Input: Thus, our data suggest that the dysregulation of the innate immune system by a TLR-2 deficiency may contribute to the development and/or pathophysiology of schizophrenia-like behaviors via Akt-GSK-3 & #945;/& #946; signaling.

schizophrenia

schizophrenia


Input: Further studies of the novel mutation in the MUT gene by means of homology modeling revealed abnormalities in the protein' s structure, which causes the protein to act malfunctioning and also the mRNA expression analysis of MUT gene confirmed these results.

MUT

abnormalities


Input: The melanocortin 1 receptor (MC1R), a key regulator of melanogenesis, is known to control inflammation, acting in concert with the MC1R ligand α-melanocyte-stimulating hormone.

inflammation


Input: Because V138F was found in the German patients with Pendred' s syndrome on at least one allele, we genotyped five microsatellite markers located in the PDS region.

PDS

Pendred' s syndrome

PDS

Pendred' s syndrome


Input: We report a novel G13513A mutation in the mitochondrial ND5 gene in a patient who had morphologically and biochemically abnormal muscle mitochondria and died at age 45 with a diagnosis of MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes).

mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes

mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes


Input: Our data indicate that RNF43 gene harbored not only exceedingly high mutations but also mutational ITH, which together might play a role in tumorigenesis of GC and CRC.

RNF43 gene

tumorigenesis


Input: In conclusion, we have identified a de novo SCN2A mutation as the etiology for Ohtahara syndrome in monozygotic twins associated with a unique dentate-olivary dysplasia in the deceased twin.

Ohtahara syndrome

Ohtahara syndrome


Input: LOH of the APC, DCC, or p53 genes was observed in six of eight informative PDNC tumors; no LOH was detected in the carcinoid control specimens.

DCC

carcinoid


Input: We hypothesize that disruption or decreased expression of CNTNAP2 could lead to a disturbed distribution of the K (+) channels in the nervous system, thereby influencing conduction and/or repolarization of action potentials, causing unwanted actions or movements in GTS.

nervous system


Input: Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.

bipolar disorder

bipolar disorder


Input: No association was established between E-cadherin immunoreactivity and p53 abnormalities (P =. 13).

E-cadherin

abnormalities


Input: Hypotension, autonomic failure, and cardiac hypertrophy in transgenic mice overexpressing the alpha 1B-adrenergic receptor.

alpha 1B-adrenergic receptor

Hypotension

alpha 1B-adrenergic receptor

Hypotension


Input: We determined the subtoxic range of selenium concentration (as sodium selenite) required to increase and maintain the expression of anti-oxidant selenoproteins gluthathione peroxidases GPX1 and GPX4 at a constant level in cultures of human lung adenocarcinoma cell lines (H460, H1703 and H1944) and in HPL1D, a non-transformed lung epithelial cell line.

lung adenocarcinoma


Input: The expression of VEGFA, which should rise in hypoxia, is significantly inhibited by eIF3i siRNA treatment.

VEGFA

hypoxia


Input: The mechanisms by which spastin, atlastin, and paraplegin mutations cause axonal degeneration that results in clinically similar forms of HSP are not known.

atlastin

axonal degeneration


Input: Clinical depression was evidenced in 68. 4% of SCA1 and 75% non SCA-1 patients.

Clinical depression

Clinical depression


Input: Disorders affecting the cornea have been mapped to human chromosome 1 (central crystalline corneal dystrophy, familial subepithelial corneal amyloidosis, early onset Fuchs dystrophy, posterior polymorphous corneal dystrophy), chromosome 4 (Bietti marginal crystalline dystrophy), chromosome 5 (lattice dystrophy types 1 and IIIA, granular corneal dystrophy types 1, 2 and 3, Thiel-Behnke corneal dystrophy), chromosome 9 (lattice dystrophy type II), chromosome 10 (Thiel-Behnke corneal dystrophy), chromosome 12 (Meesmann dystrophy), chromosome 16 (macular corneal dystrophy, fish eye disease, LCAT disease, tyrosinemia type II), chromosome 17 (Meesmann dystrophy, Stocker-Holt dystrophy), chromosome 20 (congenital hereditary endothelial corneal dystrophy types I and II, posterior polymorphous corneal dystrophy), chromosome 21 (autosomal dominant keratoconus) and the X chromosome (cornea verticillata, cornea farinata, deep filiform corneal dystrophy, keratosis follicularis spinulosa decalvans, Lisch corneal dystrophy).])

LCAT

granular corneal dystrophy


Input: However, in the absence of ligand, ALK-1 and endoglin interactions were observed by immunoprecipitation/western blot in HUVEC from normal as well as HHT1 and HHT2 patients.


Input: Of the 18 genes analyzed here, eight genes (S100A8, S100A9, MNDA, SELL, TGFB1, PSMB3, CD74, and IL12A) had higher expression and three genes (GNLY, PSMA4, and SMAD7) had lower expression in T1D patients compared with control subjects, indicating that genes involved in inflammation, immune regulation, and antigen processing and presentation are significantly altered in PBMCs from T1D patients.]

inflammation


Input: Individual SOCS3 SNPs were not associated with general or central obesity, or with two indices of insulin sensitivity (homeostasis model assessment and insulin sensitivity measure).

insulin sensitivity


Input: Gene level disturbances in cellular and molecular networks impacted by alcohol and alcoholism pathology include transketolase (TKT), transferrin (TF), and myelin (e. g., MBP, MOBP, and MOG).

MOBP

alcoholism

MOBP

alcoholism


Input: We directly sequenced the gene for steroidogenic acute regulatory protein in 15 patients with congenital lipoid adrenal hyperplasia from 10 countries.

steroidogenic acute regulatory protein

congenital lipoid adrenal hyperplasia

steroidogenic acute regulatory protein

congenital lipoid adrenal hyperplasia


Input: Mutations of GPR161 may be implicated as a potential novel cause of PSIS.

PSIS

PSIS


Input: PSACH results from mutations in the cartilage oligomeric matrix protein (COMP) gene, while SEDC is caused by mutations in the gene for type II procollagen (COL2A1).

SEDC

SEDC


Input: In multivariable analyses, IL-18 remained associated with multiple components of the MS but not with CAC or aortic plaque.

CAC

plaque


Input: In this study, we performed immunophenotypic analysis of peripheral blood NK cells with regard to CD56, CD16, Nkp46, and CD25 markers, as well as IL-10 levels quantification in the sera samples of asymptomatic, H. pylori (Hp)-infected or uninfected individuals, and combined these results with our previous findings on lymphocyte cytotoxic activity.

asymptomatic


Input: MUC5AC overexpression in metaplasia, dysplasia and normal epithelium adjacent to squamous cell carcinoma provides additional arguments for a mucous cell origin of preneoplastic squamous lesions.

metaplasia


Input: As a whole, the degree of impairment of WASP protein expression in WAS/XLT seems to correlate with anomalies of cytoskeletal organization, strongly supporting a role for WASP in the regulation of F-actin polymerization.

WASP

WAS

WASP

WAS


Input: Suppression of the genes adenosine triphosphate citrate lyase, acetyl-CoA carboxylase, fatty acid synthase, stearoyl-CoA desaturase 1, or sterol regulatory element-binding protein 1, which are involved in lipogenesis, reduced proliferation, and survival of HCC cell lines and AKT-dependent cell proliferation.

fatty acid synthase

HCC

fatty acid synthase

HCC


Input: Each family was thoroughly educated about all facets of the study, including the molecular genetics, reduced penetrance of CDKN2A mutations, and their variable expressivity.

variable expressivity


Input: Expression of GPIbα/β on GPIXW127X platelets was sufficient to support adhesion to immobilized von Willebrand factor and type III collagen and ristocetin-induced platelet agglutination.

GPIbα

adhesion


Input: Mutation analysis of the exons encoding conserved regions of CAMTA1 showed no somatic mutations in 10 gliomas, including 6 cases with and 4 cases without 1p LOH.

gliomas


Input: Allele * 2 of the HS1, 2A enhancer of the Ig regulatory region associates with rheumatoid arthritis.

rheumatoid arthritis


Input: In this study, we examined the response of human retinal pigment epithelium (RPE) cells to hypoxia and employed the small interference RNA technique to knock down gene expression of HIF-1 alpha in RPE cells.

RPE

hypoxia


Input: Most of the normal ovaries, ovarian fibromas, ovarian fibrothecomas, and ovarian leiomyomata also expressed ER-beta and PR.

ER-beta

fibromas


Input: Substitution of the SV40 polyadenylation signal sequence in the luciferase reporter plasmid with the mda-7-ARE-3'-UTR renders the Luciferase message unstable when expressed in proliferating and reversibly differentiated melanoma cells.

UTR

melanoma


Input: IL-6-induced enhancement of c-Myc translation in multiple myeloma cells: critical role of cytoplasmic localization of the rna-binding protein hnRNP A1.

rna-binding protein

multiple myeloma


Input: Ezrin, radixin and moesin are unlikely targets for autoantibodies in AIDP and CIDP, and the association of anti-moesin antibodies with cytomegalovirus-related AIDP was not confirmed.

radixin

cytomegalovirus


Input: Clinicopathological aspects of the endocervical-like mucinous borderline tumour of the ovary (EMBT), including higher frequencies of bilaterality, endometriosis and hormone receptor reactivity, and often admixtures of various Müllerian-type epithelia, closely resembles endometrioid tumour more than mucinous borderline tumour of the intestinal type (IMBT).

hormone receptor

endometrioid tumour


Input: MAA and neuraminidase prevent α (v) β (3)-dependent EC adhesion to Tat, the consequent FAK and ERK1/2 phosphorylation, and EC proliferation, migration, and regeneration in a wound-healing assay.

adhesion


Input: The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

oral-facial-digital syndrome

oral-facial-digital syndrome


Input: We found 14 novel SCN2A missense mutations in 15 patients: 9 of 67 OS cases (13. 4%), 1 of 150 West syndrome cases (0. 67%), and 5 of 111 with unclassified EOEEs (4. 5%).

OS

OS


Input: We also highlight that the appearance and the progressive increase of the sCLU in colorectal tumors correlate to a significant increase of CLU in serum and stool of patients.

CLU

colorectal tumors


Input: R723 preferentially targeted the JAK2-dependent pathway rather than the JAK1-and JAK3-dependent pathways in vivo, and its effects on T and B lymphocytes were mild compared with its effects on myeloid cells.

mild


Input: Real-time PCR analysis of human ACC (n = 8), adenoma (n = 8), and ACC cell lines (SW13, NCI-H295R, and HAC15) revealed a significant down-regulation of TLR4, MD2 (myeloid differentiation protein-2), and cluster of differentiation 14 (CD14) mRNA compared with normal human adrenal cortex and adrenocortical cells in primary culture.

adenoma


Input: ER stress in HSCs promotes liver fibrosis by inducing overexpression of SMAD2, via dysregulation of MIR18A; this dysregulation is mediated by PERK phosphorylation and destabilization of HNRNPA1.

PERK

liver fibrosis


Input: Heterozygous missense mutations in the Indian Hedgehog (IHH) gene have been identified as a cause of BDA1; however, the biochemical consequences of these mutations are unclear.

IHH

IHH


Input: Very high levels of soluble CD30 recognize the patients with classical Hodgkin' s lymphoma retaining a very poor prognosis.

Hodgkin' s lymphoma

Hodgkin' s lymphoma


Input: Epithelial to mesenchymal transition (EMT) plays a dual role in tumor progression.

EMT

tumor progression


Input: For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.

alcohol dependency

alcohol dependency


Input: Our results indicate a relationship of COMT polymorphism rs4680 with immune dysregulation in CFS providing a potential link for the association between stress and infection susceptibility in CFS.

COMT

immune dysregulation


Input: Of the more than 200 genes upregulated by these treatments, three of these, neuronatin, metallothionein 3 and cystatin E/M, were frequently hypermethylated and transcriptionally downregulated in NSCLC cell lines and tumors.

neuronatin

NSCLC

neuronatin

NSCLC


Input: By using combined high resolution copy-number variant and mutation analysis, we identified ARMC4 mutations in twelve PCD individuals whose cells showed reduced numbers of ODAs and severely impaired ciliary beating.

PCD

PCD


Input: Silencing GRP-R decreased HIF-1α expression and blocked VEGF expression and secretion in both normoxic and CoCl2 induced hypoxia.

VEGF

hypoxia


Input: To assess the frequency of t (12; 15) (p13; q25) in breast cancer, we developed complementary probe sets (fusion and split-apart probes) for the detection of this translocation by fluorescence in situ hybridization (FISH) in paraffin-embedded, formalin-fixed tissue sections.

breast cancer


Input: Impaired periamygdaloid-cortex prodynorphin is characteristic of opiate addiction and depression.

prodynorphin

depression

prodynorphin

depression


Input: The Id3 (-/-) mice with lymphoma showed splenomegaly, hepatomegaly, and lymphadenopathy with involvement of bone marrow, thymus, kidney, and lungs between 6 and 15 months of age.

hepatomegaly


Input: We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotransferase (ALT), or level of ALT alone, was associated with rs738409 (patatin-like phospholipase domain-containing protein 3 [PNPLA3]), rs2228603 (neurocan [NCAN]), rs12137855 (lysophospholipase-like 1), rs780094 (glucokinase regulatory protein [GCKR]), and rs4240624 (protein phosphatase 1, regulatory subunit 3b [PPP1R3B]) using regression modeling in an additive genetic model, controlling for age, age-squared, sex, and alcohol consumption.

GCKR

regression


Input: Annexin VIII was originally found to be a vascular anticoagulant, but evidence obtained from our recent studies suggests that it does not play a role in hemorrhage diathesis in APL.

Annexin VIII

hemorrhage


Input: We performed immunohistochemistry (IHC) for MMR proteins hMLH1, hMSH2, and hMSH6 in all 35 tumors and microsatellite instability (MSI) studies in 34/35 tumors using 10 microsatellite markers in paired normal and tumor DNA.

MMR

microsatellite instability


Input: Firstly, a quantitative PCR was done using 3 microl of a cloned B19 DNA (33. 3 pg/ml) mixed in 47 microl of sterile distilled water which were further diluted from 10 (-1) up to 10 (-7) to find the lower limit of DNA detection.

sterile


Input: Subsequently, the size of ESD-induced artificial ulcers were measured to determine the speed of gastric ulcer healing, and regenerating mucosa around the ulcers and appropriately matched controls were collected from patients by endoscopic biopsy.

ESD

gastric ulcer


Input: To further confirm this observation, in this study, we employed 89 individuals diagnosed with sporadic non-syndromic oligodontia (40 males and 49 females) to investigate the relationship between polymorphism in rs929387 of GLI3 and tooth agenesis.

tooth agenesis


Input: Stat5a nuclear expression was also detected in intraductal proliferations (10 of 21 lesions) and in ductal carcinomas in situ (13 of 15 lesions).

ductal carcinomas

ductal carcinomas


Input: Real-time RT-PCR, Western blot analysis, and enzyme-linked immunosorbent assay (ELISA) were conducted on CD18 and S2-013 human pancreatic cancer cells treated with apigenin (0-50 μM) in normoxic and hypoxic conditions to evaluate HIF-1α, GLUT-1, and VEGF mRNA and protein expression and secretion.

VEGF

hypoxic


Input: These results reveal an essential role of MKK7 in cardiomyocytes for protecting the heart from hypertrophic insults thereby preventing the transition to heart failure.

heart failure

heart failure


Input: MLL gene involvement, which has been reported in some leukemia cases, was examined by FISH in fusion partner-unknown cases.

FISH

leukemia


Input: Nerve growth factor serum concentrations increase during many inflammatory and autoimmune diseases, glomerulonephritis, chronic kidney disease, end-stage renal disease and, particularly, in renal transplant.

Nerve growth factor

end-stage renal disease

Nerve growth factor

end-stage renal disease


Input: Along with paraplegin, which causes recessive spastic paraplegia, AFG3L2 is a component of the conserved m-AAA metalloprotease complex involved in the maintenance of the mitochondrial proteome.

spastic paraplegia


Input: This study was to detect 12 BCL3-PVRL2-TOMM40 SNPs, gene-gene and gene-environment interactions on dyslipidemia in the Chinese Maonan population.

dyslipidemia

dyslipidemia


Input: A trend for association between depression severity and PDYN variation was detected.

PDYN

depression

PDYN

depression


Input: Untreated diabetes of short duration resulted in hypercalciuria and intestinal calcium malabsorption despite increased free concentrations of serum 1, 25-dihydroxyvitamin D. The concentrations of two vitamin D-dependent calcium-binding proteins were also decreased: a low duodenal calbindin-D 9K concentration corresponding to the low intestinal active calcium absorption and a low serum osteocalcin concentration, corresponding to a low bone formation and highly correlated with serum IGF-I concentration.

IGF-I

malabsorption


Input: The mutations detected so far show that various mutations in the MRP2 gene can lead to the Dubin-Johnson syndrome.

Dubin-Johnson syndrome

Dubin-Johnson syndrome


Input: Despite the absence of CCK receptors from many gastrointestinal adenocarcinomas, evidence from animal models and from tumour cell lines in vitro suggests that the CCK-2 receptor may contribute to the development of esophageal and gastric adenocarcinomas, and further experimental work in these areas is clearly warranted.

CCK

esophageal


Input: Similarly, NUCB2 mRNA content was also higher (× 1. 8) in male suicides, whereas in female suicide victims, these contents were × 2. 7 lower compared to controls.

suicide


Input: This dissociation of SLI and ChAT indicates that a cortical cholinergic deficit does not invariably lead to reduction of somatostatin.

SLI

dissociation


Input: We conclude that the increased expression of homeobox gene DLX4 may be a contributing factor to the developmental abnormalities seen in the FGR-affected placentae.

abnormalities


Input: Insulin resistance was coupled to ablation of insulin-stimulated GLUT4 translocation in skeletal muscle from PAK1 (-/-) knock-out mice, and in sharp contrast to islet beta cells, skeletal muscle PAK1 loss was underscored by defective cofilin phosphorylation but normal ERK1/2 activation.

translocation


Input: The quantitation of bcl-2/IgH translocation-positive cells was sensitive and reproducible, capable of detecting as few as five malignant cells out of 300, 000 normal cells.

translocation


Input: The HPT-JT syndrome and FIHP are autosomal dominant disorders that may be caused by abnormalities of the HRPT2 gene, located on chromosome 1q31. 2.

HPT-JT

HPT-JT


Input: Elp3 genetic ablation strongly impaired invasion and metastasis formation in the PyMT model of invasive breast cancer.

breast cancer

breast cancer


Input: Finally, the recently cloned t (12; 21) translocation has been found to involve the TEL gene (coding for a novel TF) on 12p13, and AML1 on 21q22.

translocation


Input: To explore the effects of genetic variation in the PTH pathway, we have analysed variations in PTH, PTHLH, PTHR1 and PTHR2 in relation to bone mass and fracture incidence in elderly women.

PTH

bone mass


Input: STXBP1-related encephalopathy may present as drug-responsive infantile spasms with focal/lateralized discharges.

infantile spasms

infantile spasms


Input: We also report a novel amino acid substitution mutation in codon 192 of KRT2E (asparagine to lysine) in the conserved 1A helix initiation peptide of the protein in the patient with IBS.

IBS

IBS


Input: Covariates included age, gender, diabetes, iron parameters, intravenous iron dose, parathyroid hormone, albumin, phosphorus, body mass index, vascular access type, hospitalization/missed treatments, smoking status, alcohol abuse, and gastrointestinal bleeding.

parathyroid hormone

gastrointestinal bleeding


Input: The presentations in these children include features of acrocallosal syndrome, such as hypoplasia of the corpus callosum, enlarged ventricles, facial dysmorphism with a prominent forehead and broad halluces in the first child, but included atypical findings for individuals previously reported to have truncating mutations in KIF7, including imperforate anus, infantile spasms and severe growth retardation.

hypoplasia of the corpus callosum


Input: The molecular pathway that subverts CSR to mediate trans-chromosomal joining of Myc and Smu (translocation origin) and secondary modification of Myc-Igh junctions (translocation " remodeling ") has not been elucidated, but recent evidence indicates that it includes CSR factors, such as the activation-induced cytidine deaminase (AID), that may also be involved in the ongoing neoplastic progression of the translocation-bearing tumor precursor.

AID

translocation


Input: These findings suggest that recombinant human erythropoietin may be useful as a therapy to prevent paclitaxel-induced sensory polyneuropathy in patients undergoing chemotherapy.

erythropoietin

polyneuropathy

erythropoietin

polyneuropathy


Input: Genetic epidemiology of insulin resistance and visceral adiposity. The IRAS Family Study design and methods.

IRAS

insulin resistance


Input: The frequencies of causative alterations such as loss of methylation (LOM) of KvDMR1, hypermethylation of H19-DMR, paternal uniparental disomy, CDKN1C gene mutation, and chromosome abnormality have been described for North American and European patients, but the corresponding frequencies in Japanese patients have not been measured to date.

DMR

chromosome abnormality


Input: The results of this study suggest that MAP3K6 regulates VEGF expression in both normoxia and hypoxia, and that regulation of VEGF by MAP3K6 may play a crucial role in both angiogenesis and tumorigenesis.

VEGF

hypoxia


Input: There were no significant associations between CTLA-4 exon-1 + 49 A/G polymorphism and autoimmune or lymphoid hyperplasia and granulomatous disease in this mostly Caucasian CVID patient population.

lymphoid hyperplasia


Input: We report here that high-fat-diet-fed ABHD6-KO mice show modestly reduced food intake, decreased body weight gain and glycemia, improved glucose tolerance and insulin sensitivity, and enhanced locomotor activity.

body weight gain


Input: Three hereditary gastric cancer syndromes have been described; hereditary diffuse gastric cancer (HDGC), familial intestinal gastric cancer (FIGC) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS).

FIGC

gastric cancer


Input: Haplotype analysis of CDG-Ic patients revealed a founder effect for the ALG6 allele bearing the A333 V mutation.

CDG-Ic

CDG-Ic


Input: Widespread depigmentation related to the risk of presence of autoantibodies (P = 0. 03) in sporadic cases of vitiligo (especially of PCA: P = 0. 04 and ANA: P = 0. 0002).

ANA

depigmentation


Input: Sequence analysis revealed the presence of mutations in the K2e gene in patients with ichthyosis bullosa of Siemens.

ichthyosis bullosa of Siemens

ichthyosis bullosa of Siemens


Input: The discovery that MR-1 mutations underlie PDC provides opportunities to explore this condition' s pathophysiologic characteristics and may provide insight into the causes of other paroxysmal neurologic disorders as well as the neurophysiologic mechanisms of alcohol and caffeine, which frequently precipitate PDC attacks.

neurologic disorders


Input: mRNA and protein expression and tissue distribution of P-gps, MRPs, OATP2 and NTCP were assessed in HCC and peritumorous non-neoplastic tissue by reverse transcription polymerase chain reaction, Western blotting and immunohistochemistry, respectively.

NTCP

non-neoplastic


Input: In a clinical sample of 26 patients with PSD and 25 unrelated nondepressed stroke patients of Caucasian descent, we examined the frequencies of a functional single nucleotide variant (A/G) within the promoter region (rs25531) and located in L (16-repeat) and S (14-repeat) alleles of 5-HTTLPR, and a variable number tandem repeat (VNTR) polymorphism in intron 2.

PSD

stroke


Input: Renal tumor xenografts, derived from subcutaneous injection of QTRRE cells into nude mice, also display increases in cytosolic mislocalization of p27 and cyclin D1.

cyclin D1

Renal tumor

cyclin D1

Renal tumor


Input: Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.

QDPR

Dihydropteridine reductase deficiency

QDPR

Dihydropteridine reductase deficiency


Input: In ATP7B-positive tumors, adjacent non-neoplastic tissue was similarly analyzed, revealing that ATP7B is upregulated in gastric carcinoma.

non-neoplastic


Input: In cases carrying a MALT1 translocation, FISH for API2-MALT1 was performed, whereas in those carrying an IGH translocation, FISH was performed for BCL10, BCL6, BCL2, c-MYC and/or CCND1.

translocation


Input: To further define the in vivo role of GPBAR1 in inflammation, we assessed GPBAR1 expression and found high levels on circulating mouse monocytes.

inflammation


Input: Dysferlin and/or dysferlin mRNA abnormalities are diagnostic for dysferlinopathy when mutational analysis detects a mutation in one allele only.

dysferlin

abnormalities


Input: Sequence analysis of the whole LGI1 gene coding regions in sporadic patients did not reveal changes in the LGI1 gene.

LGI1 gene

sporadic


Input: In tail bleeding time assays, FXI-/-animals may have slightly prolonged bleeding compared to FXI +/+ and FXI +/-animals, however, a consistent hemostatic deficit has not been identified.

FXI

bleeding


Input: Autosomal-dominant medullary cystic kidney disease (ADMCKD) is characterized by the development of cysts at the corticomedullary border of the kidneys.

ADMCKD

cysts


Input: Over time, the definition was modified and now includes diffuse large B-cell lymphoma (DLBCL) with MYC translocation combined with an additional translocation involving BCL2 or BCL6.

translocation


Input: In a mouse model of pneumonia induced by P. aeruginosa, Morf4l1 is stabilized by acetylation that protects it from Fbxl18-mediated degradation.

pneumonia


Input: Leptin is an adipocyte-secreted hormone involved in body weight regulation, acting through the leptin receptor, localised centrally in the hypothalamus as well as peripherally, amongst others on adipose tissue.

leptin receptor

body weight


Input: Here, we show that miR-340 inhibits the tumorigenic phenotype of melanoma cells.

melanoma

melanoma


Input: We hypothesized that this may be the result of a direct effect of prolactin on atherogenesis through activation of the prolactin receptor.

prolactin receptor

atherogenesis


Input: This technique would have been less helpful in nine cases, that is, bisatellited SMC, isochromosomes and translocation derivatives.

SMC

translocation


Input: Loss of heterozygosity for DMBT1 was more frequent in HCC tumour area and non-tumoral cirrhotic tissue adjacent to HCC, compared with other HBV-related liver diseases (P < 0. 05).

HCC

liver diseases


Input: Analysis of a panel of mammalian cell lines showed an increased mRNA and protein expression of specifically myosin IC isoform A in a panel of human and mouse prostate cancer cell lines but not in non-cancer prostate or other (non-prostate-) cancer cell lines.

myosin IC

cancer


Input: Our aim was to determine if incomplete ERG abnormalities would be associated with heterozygous carriers of dystrophin gene mutations.

ERG

abnormalities


Input: In order to investigate whether there is a genetic association of the biotransformation enzymes and idiopathic male fertility, we studied GSTT1, GSTM1, and CYP1A1 * 2A polymorphisms in 150 infertile men and 200 healthy men as controls from Northern Iran.

infertile


Input: Recent advances in artificial liver support have used albumin as a binding and scavenging molecule in ALF.

albumin

ALF

albumin

ALF


Input: Over 50 different TRPV4 mutations have been reported, with two codons appearing to be mutational hot spots: P799 in exon 15, mostly associated with MD, and R594 in exon 11, associated with SMDK.

MD

MD


Input: Here we describe in detail the clinical and biochemical features in a boy affected by AHDS with severe neurological abnormalities and a novel de novo SLC16A2 gene insertion, 1343-1344insGCCC, resulting in a truncated protein lacking the last four transmembrane domains (TMDs) as well as the carboxyl cytoplasmic end.

SLC16A2 gene

abnormalities


Input: We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red blood cell count (RBC).

MCH

mean corpuscular volume


Input: Introduction of FOXA1 and HOXB13 into an immortalized prostate cell line reprogrammed the AR cistrome to resemble that of a prostate tumor, functionally linking these specific factors to AR cistrome reprogramming.

prostate tumor

prostate tumor


Input: The distribution of allelic frequencies of the GABRA5 locus differed significantly between BP patients and controls with the 282-bp allele found to be associated with BP affective disorder, while no such difference was observed between the groups of UP patients and controls nor between the two patient groups.

affective disorder

affective disorder


Input: Among all the autosomal recessive rare bleeding disorders, which include afibrinogenaemia, factor (F) II, FV, FV + VIII, FVII, FX, FXI, FXIII, the combined deficiency of coagulation FV and FVIII (F5F8D or FV + FVIII) is exceptional because it is due to mutations in genes encoding proteins involved in the FV and FVIII intracellular transport (LMAN1 and MCFD2) rather than DNA defects in the genes that encode the corresponding coagulation factors.

FXI

afibrinogenaemia


Input: JMJD1A regulates the expression of adrenomedullin (ADM) and growth and differentiation factor 15 (GDF15) under hypoxia by decreasing promoter histone methylation.

ADM

hypoxia


Input: Fifty resected lung AD were included (M: F = 23: 27, smokers: non-smokers = 19: 31, EGFR mutant: wild-type = 21: 29) with LATS2 mRNA levels showed no significant difference between gender, age, smoking and pathological stages while LATS2 immunohistochemical staining on an independent set of 79 lung AD showed similar trend.

EGFR

smoking


Input: HLA DR5 was associated with relapsing thyrotoxicosis, whereas HLA DR7 and B12 were negatively correlated with relapse.

thyrotoxicosis


Input: Here, we examined the potential associations of common variants of the SLC12A3 gene with blood pressure traits in Mongolians in China.

SLC12A3 gene

blood pressure


Input: The spontaneous up-regulation of utrophin, observed in dystrophin-deficient skeletal muscle fibers, may decrease the susceptibility of such fibers to necrosis.

utrophin

necrosis


Input: To investigate the molecular mechanism of nectin-like molecule 1 (NECL1) inhibiting the migration and invasion of U251 glioma cells.

nectin

glioma


Input: The positive impact of MT5-MMP deficiency was still noticeable at 16 months of age, as illustrated by reduced amyloid burden and gliosis, and a better preservation of the cortical neuronal network and synaptophysin levels in bigenic mice.

amyloid


Input: Adrenomedullin (ADM) was identified as one of the most significantly upregulated genes in DKs5 cells that express the KRAS oncogene in hypoxia (3. 2-fold, p = 1. 47 × 10 (-5)).

ADM

hypoxia


Input: Several stromal cell subtypes including macrophages contribute to tumor progression by inducing epithelial-mesenchymal transition (EMT) at the invasive front, a mechanism also linked to metastasis.

EMT

tumor progression


Input: Cholesteryl ester transfer protein (CETP) deficiency is one of the most important and common causes of hyperalphalipoproteinemia (HALP) in the Japanese.

Cholesteryl ester transfer protein

CETP) deficiency

Cholesteryl ester transfer protein

CETP) deficiency


Input: Our data indicate that resveratrol modulates the effect of MED28 on cellular migration, presumably through the EGFR/phosphatidylinositol 3-kinase (PI3K) signaling pathway, in breast cancer cells.

breast cancer

breast cancer


Input: The existence of distinguishing molecular features was explored in a series of serrated polyps and matched normal mucosa from patients with and without hyperplastic polyposis by assessing mutation of BRAF, DNA methylation in 14 markers (MINTs 1, 2 and 31, p16, MGMT, MLH1, RASSF1, RASSF2, NORE1 (RASSF5), RKIP, MST1, DAPK, FAS, and CHFR), and immunoexpression of MLH1.

RKIP

polyps


Input: Accordingly, the present study has been initiated to investigate whether the changes in plasma level of endothelin-1 and nitric oxide along with cardiac nitric oxide are associated with the development of doxorubicin-induced cardiomyopathy.

cardiomyopathy

cardiomyopathy


Input: Angiotensin II, interstitial inflammation, and the pathogenesis of salt-sensitive hypertension.

Angiotensin II

inflammation

Angiotensin II

inflammation


Input: Cigarette smoke extract did not affect VEGF secretion neither in hypoxia nor in normoxia, whereas the secretion of all cytokines was inhibited by the extract in both conditions.

VEGF

hypoxia


Input: The finding that IL-6 and RANTES modulate, respectively, survival and migration of peripheral lymphocytes of myasthenic patients point to MAPK transcriptional and posttranscriptional abnormalities of MG-TEC as a key step in the pathological remodelling of myasthenic thymus.

RANTES

abnormalities


Input: The expression levels of GLT8D1 were significantly higher in patients with MDD than in controls (P & #160; = & #160; 0. 021).

MDD

MDD


Input: Ischemic volumes calculated from each MR images, which are related to infarction and/or vasogenic edema, respectively, were significantly smaller in the antagonist group as compared with the PBS group (P < 0. 05) Our study is the first to provide evidence that the inhibition of VEGF attenuates VP and reduces CVI in the acute stage.

VEGF

infarction


Input: Increased Cdc7 protein levels were significantly associated with arrested tumor differentiation (P = 0. 004), advanced clinical stage (P = 0. 01), genomic instability (P < 0. 001), and accelerated cell cycle progression.

genomic instability


Input: Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia


Input: Notably, interactions between cancer cells, stromal cells, and the extracellular matrix (ECM) are crucial to angiogenesis and tumorigenesis.

ECM

tumorigenesis


Input: 14q32/IGH translocation partners were identified in eight cases (BCL2 in five cases, BCL11A, CCND3 and CDK6 in one case each).

translocation


Input: The most common is the translocation t (11; 18) (q21; q21), which results in a fusion of the cIAP2 region on chromosome 11q21 with the MALT1 gene on chromosome 18q21 and is present in more than one-third of cases.

MALT1 gene

translocation


Input: Transmitted by autosomal recessive inheritance, platelets in GT have quantitative or qualitative deficiencies of the fibrinogen receptor, & #945; IIb & #946; 3, an integrin coded by the ITGA2B and ITGB3 genes.

GT

GT


Input: To address the role of the JNK2 isoform in metabolic homeostasis, we intercrossed Jnk1 (-/-) and Jnk2 (-/-) mice and examined body weight and glucose metabolism in the resulting mutant allele combinations.

body weight


Input: This methylation leads to MST1 inactivation and activation of YAP target genes in tumour cells, which elicits osteoclast differentiation and bone metastasis.

metastasis

metastasis


Input: Here we report mutation analysis of the DHCR7 gene in SLOS patients from Poland (n = 15), Germany/Austria (n = 22) and Great Britain (n = 22).

SLOS

SLOS


Input: The APC and cyclin D2 gene promoters were both unmethylated in the aspiration fluids from 19 women with nonmalignant breast disease.

cyclin D2 gene

aspiration


Input: To further understand the mechanism of the effect of PAI-1 on tumor angiogenesis, especially newly established tumor vasculature in early tumor progression, stable transfectants (TO-PAI-1) of the human prostate adenocarcinoma, PC3, were generated in which PAI-1 expression is under the control of the tetracycline-responsive promoter (Tet-On system).

prostate adenocarcinoma


Input: To genetically characterize childhood melanoma, 21 pediatric patients were studied by germ-line analysis of CDKN2A, CDK4, and MC1R genes.

childhood melanoma


Input: Using pancreatic carcinoma cell lines and gene transfectant, we measured long pentraxin (PTX3) level in culture solution and carried out cellular migration assay in vitro.

pancreatic carcinoma


Input: Vascular endothelial growth factor (VEGF) is upregulated by hypoxia and is a major stimulatory factor for choroidal neovascularization.

VEGF

hypoxia


Input: In heterozygotes with the (-alpha/-alpha) and in those with the (--/-alpha) alpha-globin genotype the imbalance was actually reversed with a mild or marked alpha-chain synthesis excess respectively.

alpha-chain

mild


Input: Genetic knockout of NRF2 demonstrates its role in developmentally regulated & #947;-globin gene expression and the ability to control oxidative stress and the phenotypic severity of SCD.

SCD

SCD


Input: The frequency and clinical correlations of MLL gene amplification in leukemia will need careful follow-up, since the frequently cryptic amplification described in these cases may not generally provoke confirmatory FISH studies.

FISH

leukemia


Input: Intrathecal injection of MC4R antagonist HS014 (5 μg/day) at the moment of CCI for seven days attenuated thermal hyperalgesia and mechanical allodynia.

mechanical allodynia


Input: Native human astrocytes were exposed to hypoxia or cytokines, including interleukin-6 (IL-6), IL-1beta, tumor necrosis factor-alpha (TNF-alpha), IL-10, transforming growth factor-alpha (TGF-alpha), and TGF-beta for 0-20 hr.

TGF-beta

hypoxia


Input: The present data indicate that ERbeta ligands in combination with TMX may have tumor static effects on colon cancer cells.

TMX

colon cancer


Input: Tumors with increased p-FADD expression showed elevated NF-kappaB (P = 0. 004) activation, a frequent molecular alteration associated with tumorigenesis and metastasis in a variety of cancers.

FADD

tumorigenesis


Input: To investigate the possible contribution of GJA7 mutations to deafness, we sequenced the GJA7 gene in 341 unrelated probands with nonsyndromic hearing loss from Turkey, South Africa, United Kingdom, United States, and China.

deafness


Input: GATA1 interacts with the TP53 tumor suppressor gene, and both GATAs have been shown to be involved in cell growth, apoptosis, and tumorigenesis of several solid tumors.

tumorigenesis


Input: Remarkably, breast cancer cells that survive reductions in levels of Mps1 have relatively less aneuploidy, as measured by copies of specific chromosomes, compared with cells that have constitutively high levels of Mps1.

aneuploidy


Input: Our results demonstrate for the first time that the STK15 polymorphism is a genetic susceptibility factor for the occurrence and aggression of ESCC.

aggression


Input: We evaluated both early and downstream T-cell receptor activation pathways after ex vivo stimulation with anti-CD3 and anti-CD28 crosslink in CD4 (+) T cells from 20 patients with non-ST-segment elevation myocardial infarction (NSTEMI), 20 with stable angina (SA), and 20 controls.

stable angina


Input: The peptidyl prolyl isomerase Pin1 frequently is overexpressed in hepatocellular carcinoma (HCC).

hepatocellular carcinoma


Input: These results suggest that IL-21 should be considered as a suitable candidate for glioma immunotherapy by local delivery.

glioma


Input: Filamin A (FLNA) mutations have been reported in some families and in sporadic patients.

FLNA

sporadic


Input: Both, AHI1 and C6orf217 appear to be highly relevant candidate genes for schizophrenia.

schizophrenia

schizophrenia


Input: We evaluated transglutaminase 5 expression in comparison with proliferating (keratin 14) and differentiating (transglutaminase 3) markers in different diseases, such as psoriasis, ichthyosis vulgaris, lamellar ichthyosis, and Darier' s disease.

keratin 14

lamellar ichthyosis


Input: Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease characterized by brain and retinal atrophy and the intracellular accumulation of autofluorescent lysosomal storage bodies resembling lipofuscin in neurons and other cells.

NCL

retinal atrophy


Input: In insulin-resistant individuals, there was an inverse correlation between insulin sensitivity and plasma MNA (r = 0. 44, p = 0. 01) or adipose tissue NNMT mRNA (r = 0. 64, p < 0. 001).

NNMT

insulin sensitivity


Input: Increased occurrence of the speA gene among scarlet fever and TSLS-associated strains does not seem to be sufficient to support the hypothesis that ETA may have a causative role in both diseases since a considerable number of strains in these groups did not possess the speA gene.

ETA

scarlet fever


Input: In addition, an independent individual with X-linked cone-rod dystrophy demonstrated a 1-nt insertion (insA) in ORF15.

cone-rod dystrophy

cone-rod dystrophy


Input: A sustained hemoglobin (Hb) level greater than 8 g/dl was considered as a response to EPO treatment.

EPO

hemoglobin


Input: Thus, the signaling cascades that regulate COX-2 expression are different in HPV-infected papilloma cells, with a significant contribution by the EGFR--Rac1--> p38 pathway.

papilloma


Input: Additional screening for CHEK2 mutations in 149 families with familial prostate cancer revealed 11 mutations (5 unique) in nine families.

familial prostate cancer

familial prostate cancer


Input: Stimulation under hypoxic conditions induced higher expression of HIF-1alpha and VEGF mRNA than treatment with either IL-1beta or hypoxia alone.

VEGF

hypoxia


Input: These results suggest that the factor V Leiden gene mutation is not a risk factor for arterial thrombosis causing stroke.

factor V Leiden

arterial thrombosis


Input: Failure to repair replication-associated errors due to a defective MMR system allows persistence of mismatch mutations all over the genome, but especially in regions of repetitive DNA known as microsatellites, giving rise to the phenomenon of microsatellite instability (MSI).

MMR

microsatellite instability


Input: Prompted by our previous findings that the potent angiogenic factor, vascular endothelial growth factor (VEGF), is hypoxia-inducible, we used in situ hybridization techniques to examine the thesis that VEGF functions as the link between retinal ischemia and a pathologic, intraocular, angiogenic response.

VEGF

hypoxia


Input: Here we report an Asian patient with prominent systemic features that we diagnosed with CDG-Ia resulting from two new mutations in the PMM2 gene (310C--& gt; G resulting in L104V and an intronic mutation IVS1-1G--& gt; A).

CDG-Ia

CDG-Ia


Input: Four tumor types implanted in the brain or subcutis in nude mice were studied: a murine rhabdomyosarcoma (M1S), a murine mammary carcinoma (EMT), and two human glioblastomas (U87 and U251).

EMT

rhabdomyosarcoma


Input: Here, we show that mutations in CSPP1, which encodes a core centrosomal protein, are disease causing on the basis of the independent identification of two homozygous truncating mutations in three consanguineous families (one Arab and two Hutterite) affected by variable ciliopathy phenotypes ranging from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occipital encephalocele.

Meckel-Gruber syndrome

Meckel-Gruber syndrome


Input: Variants at the FTO, TMEM18, FAIM2, RBJ, ZNF608 and QPCTL loci yielded nominal evidence for association with BMI and/or overweight risk (p < 0. 05).

FTO

overweight


Input: Deletions of the exons with regulatory potential of DYNC1I1 are an example of the emerging role of exonic enhancer elements and their implications in congenital malformation syndromes.

congenital malformation


Input: Although the present data do allow conclusions on the role of a superantigen in triggering the anti-AChR autoimmune response, the finding that different V beta regions were used in different patients does not support an important role of a superantigen in the maintenance of the CD4 + response in myasthenia gravis.

myasthenia gravis


Input: Interestingly, the DNMT3L promoter showed low levels of methylation in polyps and normal colonic mucosa relative to matched disease free cells with methylation level negatively correlated to expression level in normal colonic tissue.

polyps


Input: The proportion of collagen production to total protein production was much higher in all six desmoid tumors compared with human skin fibroblasts (HSF).

HSF

desmoid tumors


Input: H & E and Masson staining revealed that blockade of IL-17 can improve myocardial fibrosis in HF.

myocardial fibrosis


Input: A de novo missense mutation in the KRT6A gene, I462S, has been found in a sporadic PC-1 patient.

sporadic


Input: We also tested the hypothesis that NXY-059 would reduce alteplase-related intracranial hemorrhages.

alteplase

intracranial hemorrhages

alteplase

intracranial hemorrhages


Input: The aim of study was to compare the influence of vitamin D receptor (VDR) genotype on the PTH level and bone mineral density (BMD) in 67 patients, including 45 immunosuppressed with cyclosporine (CsA) and 22 with tacrolimus (Tac) versus 147 healthy volunteers.

PTH

bone mineral density


Input: To better understand the role and the mechanism of increased Sp1 levels on apoptosis, we used adenovirus to ectopically express GFP-Sp1 protein in various cancer cell lines.

adenovirus


Input: Sixteen pathologists of the European Working Group for Breast Screening Pathology reviewed the core biopsies of breast cancers treated with NAC and recorded the clinico-pathological findings (histological type and grade; estrogen, progesterone receptors, and HER2 status; Ki67; mitotic count; tumor-infiltrating lymphocytes; necrosis) and data regarding the pathological response in corresponding surgical resection specimens.

NAC

necrosis


Input: In this study, we measured the serum L-PGDS concentration using sandwich enzyme-linked immunosorbent assay (ELISA) and investigated the association with traditional cardiovascular risk factors and surrogate atherosclerotic indices, such as the maximum score of the intima-media complex thickness of the carotid artery (C-IMT (max)) and the brachial-ankle pulse wave velocity (ba-PWV), in 500 non-treated asymptomatic subjects.

L-PGDS

asymptomatic


Input: In situ hybridization (ISH) and immunohistochemistry (IHC) were used to detect vascular endothelial growth factor (VEGF) mRNA and protein expression in sections of glioma xenografts and spheroids in which hypoxic regions and regions with well-oxygenated necrosis were identified on contiguous sections by use of the hypoxia-specific marker, 3H-misonidazole.

VEGF

hypoxia


Input: The influence of the CEBPA status on event-free survival (EFS) and overall survival (OS) was assessed using log-rank test and a multivariate Cox proportional hazard regression model.

CEBPA

regression


Input: Findings for DAT1 intron8 were also significant for two EMD subscales, generalized anxiety (ηp (2) =. 065) and depression (ηp (2) =. 059), and for DRD2 rs2283265, depression (ηp (2) =. 053).

depression


Input: Importantly, CD4 + and CD8 + lymphocytes were shown to express T1-and T2-type cytokine message, emphasizing the potential for CD8 + T-lymphocytes to participate in periodontal disease pathology.

periodontal disease


Input: A partial trisomy 3 (bands 3q11-29) and overexpression of Bcl-2 without t (14; 18) translocation was detected in the monoclonal B cells that were classic rheumatoid factor-producing B cells bearing the WA cross-idiotype.

translocation


Input: Protein O-GlcNAcylation was intense in the hearts of CD36-defective SHR compared with that of wild-type CD36 rats [Wister Kyoto rats (WKY)], indicating the shunt of glucose through the hexosamine biosynthetic pathway (HBP).

HBP

shunt


Input: Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1. 4-1. 1/Kvbeta1. 1 and Kv1. 4-1. 1/Kvbeta1. 2.

Episodic ataxia type 1

Episodic ataxia type 1


Input: In conclusion, PRMT3 translocation by PA is coupled to the binding of LXRα, which is responsible for the onset of fatty liver.

translocation


Input: Herein, a comprehensive functional and structural analysis of 19 GLDC missense variants identified in a cohort of 26 NKH patients was performed.

GLDC

NKH

GLDC

NKH


Input: To observe the influence of different moxibustion durations on hypothalamic pro-opiomelanocortin (POMC) and prodynorphin (PDYN) mRNA expressions and plasma beta-endorphin (beta-EP) content in rheumatoid arthritis (RA) rats, to understand the mechanism of moxibustion analgesia and its dose-effect relationship.

PDYN

rheumatoid arthritis


Input: Results from this study provide the first evidence for a direct effect of cocaine abuse on TR/RXR signaling, RA metabolism, and transcriptional regulation of Ng, a gene essential for adult neuroplasticity.

Ng

cocaine abuse

Ng

cocaine abuse


Input: Three closely related proteins, ezrin, radixin, and moesin (ERM), which primarily act as a linker between the plasma membrane and the cytoskeleton, are involved in many cellular functions, including regulation of actin cytoskeleton, control of cell shape, adhesion and motility, and modulation of signaling pathways.

radixin

adhesion


Input: HER1, stage, ER and PAR1 overexpression were robustly correlated (Cox regression, P = 0. 002, P = 0. 024 and P = 0. 002 respectively).

regression


Input: This mouse model demonstrates phenotypic overlap with Verloes Bourguignon syndrome, also caused by mutation of LTBP3, which is hallmarked by craniofacial anomalies and amelogenesis imperfecta phenotypes.

Verloes Bourguignon syndrome

Verloes Bourguignon syndrome


Input: Further work is needed to assess WAVE3 as a potential marker for predicting tumor aggressiveness.

aggressiveness


Input: Early-onset antisocial behavior in a high-risk clinical group is predicted by a specific COMT gene variant previously linked with prefrontal cortical function and birth weight, and those possessing the val/val genotype are more susceptible to the adverse effects of prenatal risk as indexed by lower birth weight.

COMT gene

birth weight


Input: As alpha defensins are important in the mucosal antibacterial barrier, their diminished expression may explain, in part, the bacterial induced mucosal inflammation and ileal involvement of Crohn' s disease, especially in the case of NOD2 mutations.

mucosal inflammation


Input: We undertook a comprehensive analysis between 100 tagging single nucleotide polymorphisms (tagSNPs) in genes encoding for DHCR7, CYP2R1, VDBP, CYP27B1, CYP27A1, CYP24A1, VDR and RXRG, and obesity traits in 5224 participants (aged 45 years) in the 1958 British birth cohort (1958BC).

obesity


Input: In previous studies, serum starvation led to induction of VEGF in human colon carcinoma cells.

VEGF

starvation


Input: Hepatic expression of MMTV-LV is evident in a wide range of non-cirrhotic and cirrhotic liver diseases, irrespective of ER-alpha, PgR or p53 status, and unrelated to complicating HCC.

HCC

liver diseases


Input: Our further results showed no difference in malignancy inhibition induced by let-7a in 4 glioma cells, including U87 (PTEN null), U251 (PTEN mutant), LN229 (PTEN wild type), and LN229 (PTEN small interfering RNA).

glioma


Input: Following a report of a linkage study that yielded evidence for a susceptibility locus for bipolar affective disorder on the long arm of chromosome 21, we studied 23 multiply affected pedigrees collected from Iceland and the UK, using the markers PFKL, D21S171, and D21S49.

PFKL

bipolar affective disorder

PFKL

bipolar affective disorder


Input: To investigate the involvement of S100A13 in human cutaneous melanoma, we analyzed a series of 87 cutaneous melanocytic lesions: 14 common acquired melanocytic nevi, 14 atypical, so-called' dysplastic' nevi, 45 melanomas (17 radial growth phase and 28 vertical growth phase) and 14 melanoma metastases.

nevi


Input: We report that GPRC5B-deficient mice were protected from diet-induced obesity and insulin resistance because of reduced inflammation in their white adipose tissue.

insulin resistance


Input: Our findings show that gliomas immunohistochemically express Topo-IIalpha that is correlated with PCNA expression, and which is significantly less frequent in long survivors.

Topo-IIalpha

gliomas

Topo-IIalpha

gliomas


Input: The pathophysiology of PRS in HPP differs from the three other genetic defects known to cause PRS, but all may lead to brain PLP deficiency reducing seizure thresholds.

PLP

seizure


Input: Linkage of c-Harvey-ras-1 and INS DNA markers to unipolar depression and alcoholism is ruled out in 18 families.

INS

unipolar depression

INS

unipolar depression


Input: GPC3 protein was immunoexpressed in 68% of cancerous tissues, but not in adjacent non-neoplastic parenchyma and control liver tissues.

non-neoplastic


Input: Heme oxygenase 1 (HO-1) and its metabolites have been implicated in the cytoprotective defense against oxidative injury in atherogenesis.

atherogenesis


Input: Bipolar affective disorder (BAD) is a psychiatric illness characterized by episodes of mania and depression.

BAD

depression


Input: Polymerase chain reaction (PCR) using primer pairs for the BCL2 exons 1 and 2, and for the constant region of the immunoglobulin kappa light chain gene (IGkappa) revealed PCR products encompassing the 5'-BCL2/IGkappa fusion, indicating that the YM cells had a t (2; 18) (p11; q21) translocation.

translocation


Input: GnRHa markedly increased the expression of Fas and induced the expression of Fas ligand in the cultured leiomyoma cells on the basis of Western blot analysis.

Fas ligand

leiomyoma


Input: Dufaston therapy of glandular cystic hyperplasia and zoladex therapy of adenomatous hyperplasia normalized expression of Fas receptor, PCNA, and insulin-like growth factor 1 genes, while the expression of IFN-gamma and IL-6 genes, which was normal in hyperplasia, decreased (p < 0. 05).

hyperplasia


Input: This study supports the notion that defects in the autophagy pathway and more specifically in mTor and Atg7 are associated with neurodegeneration in DLB cases and alpha-synuclein transgenic models and supports the possibility that modulators of the autophagy pathway might have potential therapeutic effects.

neurodegeneration


Input: We investigated whether endothelial and smooth muscle cell-derived neuropilin-like protein (ESDN) is a marker of vascular remodeling in GA. Immunostaining of human coronary arteries demonstrated high levels of ESDN in GA, but not in normal arteries.

ESDN

vascular remodeling


Input: In most specimens, the levels of CTGF mRNA correlated with the degree of inflammation as assessed by histological analysis of adjacent tissue samples and by expression analysis of the pro-inflammatory cytokine interleukin-1 beta.

CTGF

inflammation


Input: PTTG mRNA was unchanged by incubating U87 cells with the promalignant growth factor TGFbeta, apoptosis inducing TNFalpha and ligands for nuclear receptors, such as retinoic acid and retinoid X receptors and peroxisome proliferator-activated receptor-gamma, known for their growth-inhibitory and apoptosis-inducing effects on gliomas.

gliomas


Input: Such an epigenetic modification in GALR3, a hyperpolarizing receptor, might contribute to the dysregulation of noradrenergic and serotonergic neurons implicated in the pathogenesis of MDD.

MDD

MDD


Input: Pentobarbital anesthetized rats subjected to Noble-Collip drum trauma developed a shock state characterized by marked hypotension, significant increases in plasma cathepsin D (4. 2-fold), free amino-nitrogen (2. 8-fold) and myocardial depressant factor (4. 7-fold) activities and a survival time of 1. 62 +/-0. 16 h. Treatment with BN 50739 (10 mg/kg, i. v.)

cathepsin D

hypotension


Input: Two cell-binding domain adhesive peptides, 4N1K (KRFYVVMWKK) and 7N3 (FIRVVMYEGKK), failed to either inhibit or support SS-RBC adhesion to TSP.

TSP

adhesion


Input: Moreover, silencing of PTPN1 by RNA interference in Hodgkin lymphoma cell line KM-H2 resulted in hyperphosphorylation and overexpression of downstream oncogenic targets.

Hodgkin lymphoma

Hodgkin lymphoma


Input: Downregulation of GATA4 and GATA6 in the heart of rats with nitrofen-induced diaphragmatic hernia.

diaphragmatic hernia

diaphragmatic hernia


Input: Human Fli-1 was also shown to be rearranged in Ewing' s sarcoma cases, in which the amino-terminal region of the Fli-1 gene was replaced with a novel coding region of a putative RNA-binding protein, EWS.

RNA-binding protein

sarcoma


Input: Taken together, our results suggest that the anti-cancer effect of Omega-3 PUFAs on gastric cancer is at least partly dependent on activating the ADORA1-mediated apoptosis pathway.

cancer


Input: Simultaneous expression of FGF-2 and VEGF in Tet-FGF-2 cells resulted in fast-growing lesions characterized by high blood vessel density, patency and permeability, and limited necrosis.

VEGF

necrosis


Input: By defining the chromosomal breakpoint of a balanced t (10; 12) translocation from a subject with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal subjects, we have identified WDR11 as a gene involved in human puberty.

translocation


Input: Genome DNAs were extracted from the patient' s blood and small-intestinal cancer and were subjected to a polymerase chain reaction-single strand conformation polymorphism and nucleotide sequence analysis for exons of the p53 and PTEN/MMAC1 genes to search for any mutations.

intestinal cancer


Input: Attempts to create cell lines that stably expressed OVCA1 from the cytomegalovirus promoter were generally unsuccessful in a variety of different cell lines.

cytomegalovirus


Input: The patients with major depression exhibited significantly higher haptoglobin plasma levels than the healthy comparison subjects and the patients with minor depression.

haptoglobin

major depression

haptoglobin

major depression


Input: Striking similarities were found when comparing the vertebral ossification defects in SMMD patients with those observed in the Nkx3-2 null mice.

SMMD

SMMD


Input: MOR internalization was restricted to the lumbar spinal cord, regardless of whether the peptidase inhibitors were injected in a lumbar or thoracic site.

MOR

thoracic


Input: S100A7 expression was present in 63 out of 136 (46%) of DCIS lesions and was associated with estrogen receptor negative status (P = 0. 0002), higher nuclear grade (P < 0. 0001), necrosis (P < 0. 0001) and inflammation (P < 0. 0001).

necrosis


Input: The origin of NGAL from tubule cells was confirmed in cultured human proximal tubule cells subjected to in vitro ischemic injury, where NGAL mRNA was rapidly induced in the cells and NGAL protein was readily detectable in the culture medium within 1 h of mild ATP depletion.

NGAL

mild


Input: GS-9620 treatment was associated with reversible increases in serum liver enzymes and thrombocytopenia, and induced intrahepatic CD8 (+) T cell, NK cell, B cell and interferon response transcriptional signatures.

thrombocytopenia


Input: Quantitative real-time PCR demonstrated that the mean ratio of FGFR3 mRNA to glyceraldehyde-3-phosphate dehydrogenase (GADPH) mRNA in HCC tissue was 0. 250, whereas the ratio in non-neoplastic liver tissue was 0. 014.

HCC

non-neoplastic


Input: The proteasome inhibitor bortezomib repressed the transcription of Notch1 and downstream effectors including Hes1, GATA3, RUNX3 and nuclear factor-κB (NF-κB) (p65 and p50), coincided with downregulation of the major transactivator Sp1 and its dissociation from Notch1 promoter.

dissociation


Input: MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.

PTEN

muscular dystrophy


Input: Both androgen receptor (AR) and orphan receptor TR2 (TR2) belong to the steroid nuclear receptor superfamily and are expressed in prostate cancer tissue and cell lines.

prostate cancer


Input: The aim of the study was to investigate genistein as a potential regulator of C-JUN, C-FOS and FOS-B of AP-1 subunits expression in skin keratinocytes, fibroblasts and keloid fibroblasts cultured in vitro.

keloid


Input: The surgical outcome was evaluated by performing clinical investigations (IOP, bleb area, height and survival), as well as histomorphometric analyses of angiogenesis (CD31), inflammation (CD45) and fibrosis (Sirius Red).

inflammation


Input: Here, we used a microsatellite instability assay and MLH1 immunohistochemistry to identify a subset of endometrial carcinomas of the endometrioid subtype lacking MMR.

MMR

microsatellite instability


Input: Thus, additional steps must be involved in the clonal expansion of the FL tumor cell beyond the activation of bcl-2 as a consequence of the t (14; 18) translocation.

translocation


Input: Factor XI (FXI) deficiency is an inherited autosomal recessive disorder associated with bleeding of variable severity.

FXI

bleeding


Input: Activation of GCN2 suppressed proinflammatory cytokine production in glomeruli and reduced macrophage recruitment to the kidney during the incipient stage of Ab-induced glomerular inflammation.

inflammation


Input: Altogether, these data suggest local roles for epithelial BV8 and EG-VEGF in the CF airway peribronchial vascular remodeling and highlighted the role of CFTR activity in both ligand biosynthesis and secretion.

CFTR

vascular remodeling


Input: This is the first report that shows that CSNB-associated mutations in three different domains of mGluR6 abolish proper protein trafficking.

CSNB

CSNB


Input: A recombinant lentivirus expressing NOB1 short hairpin RNA (shNOB1) was constructed and infected into U251 and U87-MG human glioma cells.

glioma


Input: At codon 16 of the beta2-AR gene, maternal Arg-16 homozygosity protects against, and Gly-16 predisposes to spontaneous preterm birth.

AR gene

spontaneous preterm birth


Input: MRC was associated with less discomfort than CC.

MRC

discomfort


Input: We propose that individuals with EP300 mutations may exhibit a slightly different phenotype compared to individuals with CREBBP mutations, with milder cognitive impairment, more pronounced microcephaly, absent or mild downslanting of palpebral fissures, distinct arched eyebrows, and greater degree of retrognathia.

CREBBP

mild


Input: The incidence of RER was 15. 7% (17/103) in nonfamilial colorectal carcinomas, and only 1 case, which was found in the ascending colon, showed a somatic mutation at exon 12 in the hMSH2 gene.

RER

somatic mutation


Input: In humans, FGF21 correlates with body mass index (BMI), but studies evaluating other parameters show inconsistent results.

body mass index


Input: Moreover, mutations in the gene encoding NDP, a ligand for these Wnt receptors, cause Norrie disease and FEVR.

NDP

Norrie disease

NDP

Norrie disease


Input: Because hypoxia and 5-HTT gene polymorphism control 5-HTT expression, we examined 5-HTT gene polymorphism and PH in hypoxemic patients with advanced chronic obstructive pulmonary disease (COPD).

HTT gene

hypoxia


Input: At an effector cells/target cells ratio (E/T) of 5, it was proved by dual-color FACS with propidium iodide (PI) and FITC-annexin V that both necrosis and apoptosis of tumor cells were causes of tumor specific cytolysis.

annexin V

necrosis


Input: A comprehensive study of polymorphisms in the ABCB1, ABCC2, ABCG2, NR1I2 genes and lymphoma risk.

lymphoma


Input: Moreover, MYC rearrangements occurred as the sole translocation in the majority of cases (77%), whereas across all DLBCLs the majority of MYC-rearranged cases carry additional rearrangements of either BCL2 and/or BCL6 genes (between 58% and 83% of cases).

translocation


Input: We report a 5-year-old Japanese boy diagnosed with cerebral infarction and unilateral MMD.

MMD

cerebral infarction


Input: We examined the expression of eotaxin, eotaxin-2, RANTES, monocyte chemoattractant protein-3 (MCP-3), MCP-4, and CCR3 in the bronchial mucosa from atopic (AA) and nonatopic (intrinsic; NAA) asthmatics and compared our findings with atopic (AC) and nonatopic nonasthmatic controls (NC).

atopic


Input: The generally null effect of TRAP on allergic rhinitis and aeroallergen sensitization was not modified by the studied variants in the GSTP1, TNF, TLR2, or TLR4 genes.

TRAP

rhinitis


Input: EGF-SubA was well tolerated in mice and led to a significant tumor growth delay in a glioma xenograft mouse model.

EGF

growth delay


Input: We show here that CDKL5 is a nuclear protein whose expression in the nervous system overlaps with that of MeCP2, during neural maturation and synaptogenesis.

nervous system


Input: Multiple infections were more common among women with no (32%) or LSIL (51%) [versus 23% in high-grade SIL/cancer], partially explaining the lack of a dose response using a cumulative HC2 viral load measure.

viral load


Input: We hypothesize that increased levels of pantetheinase activity are part of the inflammatory-regenerative epidermal differentiation program, and may contribute to the phenotype observed in psoriasis.

pantetheinase

psoriasis

pantetheinase

psoriasis


Input: In total, 34 B27 + patients with SpA, 28 age-and sex-matched healthy controls (20 B27-and 8 B27 +), and 9 patients with rheumatoid arthritis were studied.

rheumatoid arthritis


Input: Concentric dyskeratotic cells in CIS keratin pearls became positive for keratin (K) 10, K17, heme oxygenase-1 (HO-1), or protease activated receptor-2 (PAR-2), a candidate regulator for hemophagocytosis.

PAR

hemophagocytosis


Input: Detection of ASPL/TFE3 fusion transcripts and the TFE3 antigen in formalin-fixed, paraffin-embedded tissue in a series of 18 cases of alveolar soft part sarcoma: useful diagnostic tools in cases with unusual histological features.

ASPL

alveolar soft part sarcoma

ASPL

alveolar soft part sarcoma


Input: Although the in vitro studies demonstrated the ability of viperin to restrict influenza H1N1 virus replication, the viperin-deficient mouse model indicated that absence of viperin enhanced neither the viral load nor pulmonary damage in the lungs of infected mice.

viperin

viral load


Input: The results showed that Ct-OATP1B3 mRNA could be found in all serum EV and CRC tissue samples of the mice examined.

CRC

CRC


Input: Adoptive transfer of SOCS3-short interfering RNA-silenced macrophages into a peritonitis model demonstrated the importance of SOCS3 in driving production of pro-inflammatory IL-6 and nitric oxide, while curtailing expression of anti-inflammatory IL-10 and SOCS1.

peritonitis


Input: A number of mutations in GATA4 and NKX2. 5 have been identified to be causative for a subset of familial congenital heart defects (CHDs) and a small number of sporadic CHDs.

NKX2. 5

sporadic


Input: BAM8-22 or MSH, given i. t., generated instant short and delayed long-lasting attenuations of CFA-induced thermal hyperalgesia, but not mechanical allodynia.

MSH

mechanical allodynia


Input: To detect the t (11; 18) chromosome translocation in different stages of mucosa-associated lymphoid tissue (MALT) lymphoma, we established a RT-PCR method by adopting three new primer pairs and using the RNA extracted from the paraffin tissues to amplify the t (11; 18) fusion gene API2-MALT1 in shorter lengths.

chromosome translocation


Input: Protein kinase A potentiates adrenal 4 binding protein/steroidogenic factor 1 transactivation by reintegrating the subcellular dynamic interactions of the nuclear receptor with its cofactors, general control nonderepressed-5/transformation/transcription domain-associated protein, and suppressor, dosage-sensitive sex reversal-1: a laser confocal imaging study in living KGN cells.

transformation/transcription domain-associated protein

sex reversal


Input: We then sequenced RARB in 15 subjects with anophthalmia and/or microphthalmia and at least one other feature of PDAC syndrome.

RARB

PDAC

RARB

PDAC


Input: The present case is the first individual described with DPM1-CDG (CDG-Ie) to also have clinical and muscle biopsy findings consistent with dystroglycanopathy.

CDG-Ie

CDG-Ie


Input: The authors demonstrated that RIZ1 expression is lost in thyroid tumor cell lines and is also significantly reduced in thyroid carcinomas, when compared with normal thyroid tissues (P & lt;. 0001) and benign tumors (P =. 0003).

thyroid tumor

thyroid tumor


Input: The aim of this study was to investigate the relationship between genetic variants of the adrenergic beta3 receptor (ADRB3) and the G-protein beta3 subunit (GNB3) and clozapine-induced body weight change (BWC).

body weight change


Input: The results demonstrated that thyroxin therapy normalized the electrophysiological and molecular effects of hypothyroidism on the CA1 region and emphasized the critical role P-CaMKII plays in hypothyroidism-induced LTP impairment.

hypothyroidism


Input: Exposure to hypoxia induced significant expression of CXCR4 and HIF-1alpha in glioma cells, whereas treatment with exogenous VEGF increased CXCR4 expression in HBMECs.

VEGF

hypoxia


Input: The direct sequencing of the polymerase chain reaction-amplified product of reverse-transcribed HPRT mRNA enabled the rapid identification of the mutations found in 17 previously uncharacterized cell lines derived from patients with the Lesch-Nyhan syndrome.

HPRT

Lesch-Nyhan syndrome

HPRT

Lesch-Nyhan syndrome


Input: Patients with this genetic form of KS have been reported to have a possible increased prevalence of obesity and sleep disorders, which may be related to the role of PROK2 and PROKR2 in food intake and circadian rhythms.

circadian rhythms


Input: Thus, ARF can suppress cell migration by antagonizing CtBP2 and the phosphatidylinositol 3-kinase pathway, and these data may explain the increased aggressiveness of ARF-null tumors in mouse models.

aggressiveness


Input: Here we show that human mammary epithelial cells (HMECs) from BRCA1-mutation carriers (BRCA1 (mut/+)) exhibit increased genomic instability and rapid telomere erosion in the absence of tumour-suppressor loss.

genomic instability


Input: Compared to subjects with previously reported ARS-related diseases, individuals with bi-allelic CARS variants are unique in presenting with a brittle-hair-and-nail phenotype, which most likely reflects the high cysteine content in human keratins.

CARS

brittle-hair

CARS

brittle-hair


Input: In addition, EGF (rs10029654), EGFR (rs12718939), CXCL12 (rs197452), and VCAM1 (rs3917018) genes showed an association with hand dermatitis (P & #8202; & lt; & #8202; 0. 005).

EGF

dermatitis

EGF

dermatitis


Input: To detect cisplatin-induced autophagy, cell morphology (autophagic vacuole) and LC3 localization were examined.

autophagic vacuole


Input: In this study, we screened a cohort of 398 patients with frontotemporal dementia, progressive non-fluent aphasia, semantic dementia or mixture of these syndromes for mutations in the C9ORF72 gene.

C9ORF72 gene

aphasia, semantic


Input: With recovery from paralysis, levels of cathepsin A remained high in upper cord, and cathepsin C levels fell to about half.

cathepsin A

paralysis


Input: Mutated BRCA1 leads to disease by causing genome instability via multiple mechanisms including epigenetic changes.

genome instability


Input: Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin.

wolframin

Wolfram syndrome

wolframin

Wolfram syndrome


Input: In this prospective cohort study, we examined 46 subjects with PD without dementia, of whom 35 had normal cognition and 11 met criteria for PD-MCI at study baseline.

MCI

normal cognition


Input: The human X/autosome translocation, designated KOP, was discovered by Dr. Philip D. Pallister in Montana in 1967 in a young man with apparent Klinefelter syndrome.

KOP

translocation


Input: The expression levels of DEC1 were also correlated with age, tumor embolus, depth of invasion of ESCC, lymph metastasis status and pTNMs.

tumor embolus


Input: We reported here that the ratio between non-coding and coding SRA isoforms increased during myogenic differentiation of human satellite cells but not myotonic dystrophy patient satellite cells, in which differentiation capacity is affected.

SRA

myotonic dystrophy


Input: While AC V/VI and β-arrestin 2 mRNA levels were decreased in males, mRNA level for GRK2 was increased in females post-AV-shunt.

shunt


Input: We proposed that miR-145-5p, being an important regulator of SOX2, carries a crucial role in PCa tumorigenesis.

tumorigenesis


Input: In summary, we have identified SGNE1 as a novel epigenetically silenced gene in medulloblastomas.

medulloblastomas

medulloblastomas


Input: Treatment of BXSB-Yaa mice with IL-21R-Fc fusion protein minimally attenuates systemic lupus erythematosus.

systemic lupus erythematosus

systemic lupus erythematosus


Input: The ZZ domain of dystrophin in DMD: making sense of missense mutations.

dystrophin

DMD

dystrophin

DMD


Input: Expression of cyclin E was analyzed by immunohistochemistry in specimens of invasive ductal breast cancer tissue obtained from 189 women during radical mastectomy.

cyclin E

invasive ductal breast cancer


Input: In both patient groups prominent IFN-γ expression was found in and around granulomas, and TNF-α and IL-23 receptor expression was moderate.

IFN

granulomas


Input: Consistent with a role for Atad5 in suppressing tumorigenesis, we also identified somatic mutations of ATAD5 in 4. 6% of sporadic human endometrial tumors, including two nonsense mutations that resulted in loss of proper ATAD5 function.

tumorigenesis


Input: This FISH assay is useful for diagnostic screening of NUP98-positive leukemias.

FISH

leukemias


Input: The overexpression of miR-7 in the cervical cancer cell lines HeLa and C-33A suppressed cell viability and promoted cell apoptosis, whereas the inhibition of miR-7 had opposite effects.

cervical cancer


Input: Although PC2 was present in all adenomas, there was a differential distribution of PC1 with PRL adenomas expressing lower levels of PC1 compared to other adenoma types by RT-PCR analysis, in situ hybridization and immunostaining.

adenoma


Input: In 1, 916 premenopausal women within the Prospect-EPIC cohort, we examined associations of 14 haplotype tagging SNPs in the ALS, IGFBP1, and IGFBP3 genes with IGF-I circulating levels and mammographic density.

IGF-I

mammographic density


Input: Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.

NFKBIE

melanoma

NFKBIE

melanoma


Input: A neuropeptide precursor VGF has potent antidepressant effects and has been reportedly associated with bipolar disorder.

VGF

bipolar disorder

VGF

bipolar disorder


Input: These results indicate that deregulation of E2F1 may be a key factor in eugenol-mediated melanoma growth inhibition both in vitro and in vivo.

melanoma

melanoma


Input: We also identify six families with ANKS6 mutations affected by nephronophthisis, including severe cardiovascular abnormalities, liver fibrosis and situs inversus.

cardiovascular abnormalities

cardiovascular abnormalities


Input: Point mutations in the androgen receptor gene cause androgen insensitivity syndromes, clinically characterized by masculinization defects in karyotypic males due to endorgan resistance to androgenic steroids.

androgen receptor

androgen insensitivity syndromes

androgen receptor

androgen insensitivity syndromes


Input: Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate.

cleft lip and palate

cleft lip and palate


Input: However, the serum concentration of PEDF, as measured by enzyme-linked immunosorbent assay, was decreased in patients with cirrhosis or HCC complicated by cirrhosis compared to healthy volunteers and patients with chronic hepatitis.

PEDF

chronic hepatitis


Input: Using reverse transcriptase-polymerase chain reaction, we examined the expression levels of AR coactivators (ARA55, SRC1, ARA54, TIF2, RAC3) in four prostate cancer cell lines (DU145, PC3, LNCaP, and LN-TR2), nine benign prostatic tissue samples, and 21 prostate cancer tissue specimens.

prostate cancer


Input: We propose that familial cortical myoclonus is a novel movement disorder that may be caused by mutation in NOL3.

familial cortical myoclonus

familial cortical myoclonus


Input: The AMPK chemical inhibitor, 5-iodotubericidin, effectively repressed the hypoxic induction of VEGF mRNA levels and hypoxia inducible factor-1 dependent transcription.

VEGF

hypoxic


Input: In one atopic patient, we identified an additional 27-bp repeat in the NOS3 gene (NOS3c), which occurred in heterozygous combination with the NOS3b allele (NOS3b/c genotype).

NOS3 gene

atopic


Input: Expression of growth arrest and DNA damage-inducible protein, GADD34 and proliferating cell nuclear antigen (PCNA) have been investigated in the core and peri-infarct zone at 2 and 24 h after middle cerebral artery occlusion (MCAO).

PCNA

infarct


Input: AAT may also be a' switch' for copper metabolism and low' free' copper would be theorized to provide protection for lipid oxidation and favorably affect beta-amyloid and other aggregation, but possibly alter early' critical' period of CNS development.

AAT

amyloid


Input: In a subset of 18 patients, the bcl-2 [t (14; 18)] translocation was positive in eight patients; seven of these patients had complete remissions and converted to polymerase chain reaction (PCR) negativity by completion of therapy.

translocation


Input: Lymphoid abnormalities associated with those diseases in this strain are thymic atrophy and abnormal proliferation of CD3 + CD4-CD8-' double-negative' T cells, resulting in massive generalized lymph node enlargement.

generalized lymph node enlargement


Input: Hodgkin' s lymphoma (HL) is a lymphoid neoplasm characterized by Hodgkin' s and Reed-Sternberg (H/RS) cells, which is regulated by CD99.

lymphoid neoplasm


Input: Markedly higher expression of mRNA, protein, and activity of MnSOD in skin fibroblasts from patients with Farber disease, a human disorder with pathognomonic accumulation of ceramide due to a deficiency of ceramidase, than in normal skin fibroblasts indicate that ceramide may act as a physiological inducer of MnSOD gene expression.

MnSOD

Farber disease

MnSOD

Farber disease


Input: Both TNF-alpha receptors were related to waist-to-hip ratio (WHR), fat-free mass (FFM), plasma total cholesterol, HDL cholesterol, LDL cholesterol, and nonesterified fatty acids (NEFAs).

TNF-alpha

waist-to-hip ratio


Input: In conclusion, our study demonstrated overexpression of NS in most HCC tissues compared with their matched surrounding tissues, and silencing NS promoted UV-and serum starvation-induced apoptosis of MHCC97H and Bel7402 cells.

HCC

starvation


Input: Availability of the human CPT I cDNA should open the way to an understanding of the genetic basis of inherited CPT I deficiency syndromes, how the liver CPT I gene is regulated, and which tissues other than liver express this particular variant of the enzyme.

CPT I

CPT I deficiency

CPT I

CPT I deficiency


Input: Ten genes of importance for HNK-1 biosynthesis (B3GAT1, B3GAT2, and CHST10) or for the formation of perineuronal nets (TNR, BCAN, NCAN, HAPLN1, HAPLN2, HAPLN3, and HAPLN4) were investigated for potential involvement in schizophrenia (SCZ) susceptibility, by genotyping 104 tagSNPs in the Scandinavian Collaboration on Psychiatric Etiology sample (849 cases; 1602 control subjects).

schizophrenia


Input: Our investigation shows active smoking is associated with increased risk of TP53, BRAF and MSI + in rectal tumors and is suggestive of increased risk of CIMP + tumors.

BRAF

smoking


Input: We selected three human cancer cell lines [human melanoma (SEKI), human melanoma (G361), and human neuroepithelioma (NAGAI)] that have an ability to develop cancer cachexia syndrome with and without accompanying anorexia and examined the hypothalamic levels of mRNAs for neuropeptide Y (NPY), melanin-concentrating hormone, and orexin.

melanin-concentrating hormone

neuroepithelioma


Input: In melanoma cells in which an elevated level of c-Yes is observed, a protein of 39 kD is heavily phosphorylated on tyrosine.

c-Yes

melanoma


Input: There were no significant gender effects, and relative reductions in FADS1, HELO1, and SCD expression were greater in patients that did not commit suicide compared with patients that did commit suicide.

suicide


Input: Oxidized protein level, translocation of Bcl-2, Bax and cytochrome c between cytosol and mitochondria, and expression of peroxisome proliferator-activated receptors γ (PPARγ) and UCP2 were examined in the hippocampal CA3 subfield following KA-induced status epilepticus.

translocation


Input: Transgenic mice harboring two alleles of the mutated human COL2A1 were examined for morphological abnormalities and for alterations of their skeletal development.

abnormalities


Input: Pathologically, hHcys-associated albuminuria, foot process effacement of podocytes, loss of podocyte slit diaphragm molecules, and glomerulosclerosis at the late stage were significantly improved by local ASC gene silencing or by caspase 1 inhibition.

caspase 1

hHcy

caspase 1

hHcy


Input: In Tunisian women with idiopathic RPL, factor V Leiden polymorphism and homozygous FV HR2 haplotype are not a risk factor for very early pregnancy loss, before 8 weeks of gestation, but are thereafter associated with significant clinical risks, which gradually increase from the 8th week onwards.

factor V Leiden

early pregnancy loss


Input: The aim of this study is to investigate the effects of the peptides ADNF-9 and NAP on neurodegeneration and cerebral nitric oxide (NO) production in a neonatal rat model of hypoxic-ischemic brain injury.

NAP

neurodegeneration


Input: Neuregulin-1 (NRG1) is a potential therapeutic agent for the treatment of doxorubicin (Dox)-induced heart failure.

heart failure

heart failure


Input: As a means of investigating the risk of smoking associated with genetic polymorphisms in the dopamine transporter (SLC6A3) and the D2 dopamine receptor (DRD2) genes, a case-control study of 289 smokers and 233 nonsmoking controls and a case series analysis of smokers were conducted.

smoking


Input: Ectopic expression of satellite DNA can phenocopy BRCA1 loss in centrosome amplification, cell-cycle checkpoint defects, DNA damage and genomic instability.

genomic instability


Input: In this study, we investigated the methylation status of BCL2L10 and its expression in 21 gastric cancer tissues and corresponding non-neoplastic mucosae along with the methylation status of p16, RUNX3, and hMLH1 genes by using methylation specific PCR.

non-neoplastic


Input: Further, we show that CD40L or CD40 deficiency reduces the mean ratio of dystrophic neurite area to congophilic plaque area and the level of expression of cdk5 and p35/p25 in mice.

plaque


Input: This is consistent with BAV/AscAA-associated findings in patients and in animal models deficient for ROBO4.

BAV

BAV


Input: Stable expression of hHSS1 in glioma-derived A172 and U87 cell lines greatly reduced their proliferation rates compared to mock-transfected cells.

glioma


Input: This functional alteration may affect binding of factor H to polyanionic patterns on host surfaces, potentially influencing complement activation, immune complex clearance, and inflammation in the macula of AMD patients.

factor H

inflammation


Input: An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda.

osteopenia

osteopenia


Input: Chromosomal haplotyping with two proximal and two distal polymorphic markers flanking ABCC6 demonstrated that most chromosomes that carry these relatively frequent PXE mutations have related haplotypes specific for these mutations, which suggests that these chromosomes originate from single founder mutations.

PXE

PXE


Input: Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil.

choroid plexus carcinoma

choroid plexus carcinoma


Input: Here, we report the identification of UHS-causative mutations located in the three genes PADI3 (peptidylarginine deiminase 3), TGM3 (transglutaminase 3), and TCHH (trichohyalin) in a total of 11 children.

UHS

UHS


Input: In follicular lymphomas with the t (14; 18) translocation, there is increased expression of the bcl-2 gene, which is dependent upon regulatory elements within the bcl-2 5' flanking region and the immunoglobulin heavy-chain gene enhancers.

translocation


Input: Taken together, our findings indicate that hypoxia induces NMB-R expression through a novel mechanism to regulate HIF-1 & #945; expression in breast cancer cells.

NMB-R

breast cancer

NMB-R

breast cancer


Input: This variability in bleeding has been attributed to a number of factors including the presence of a novel form of FXI associated with platelets, which ameliorates the bleeding in some cases of FXI deficiency.

FXI

bleeding


Input: We also tested in vitro the effects of five LD missense mutations on laforin' s affinity to Lafora body.

laforin

LD

laforin

LD


Input: Therefore, the relative accuracy of each method for disease monitoring in Ph1-positive leukemia was: 83% (24 of 29) for karyotyping, 82% (27 of 33) for Southern blotting, 92% (34 of 37) for FISH, and 92% (34 of 37) for multiplex RT-PCR.

FISH

leukemia


Input: Overexpression of TweakR was observed in infiltrating tumors compared to normal adjacent breast tissues, and strong staining of TweakR was observed in all subtypes of invasive ductal breast cancer.

TweakR

invasive ductal breast cancer


Input: Frontotemporal dementia with parkinsonism, chromosome 17 type (FTDP-17), a recently defined disease entity, is clinically characterized by personality changes sometimes associated with psychosis, hyperorality, and diminished speech output, disturbed executive function and nonfluent aphasia, bradykinesia, and rigidity.

Frontotemporal dementia with parkinsonism

Frontotemporal dementia with parkinsonism


Input: Taken together, mutations in CTLA4 resulting in CTLA-4 haploinsufficiency or impaired ligand binding result in disrupted T and B cell homeostasis and a complex immune dysregulation syndrome.

immune dysregulation

immune dysregulation


Input: CCN2 (connective tissue growth factor/CTGF) is a profibrotic factor that is secreted by endothelial cells, involved in atherogenesis, promoting fibroblast proliferation and matrix production.

CTGF

atherogenesis


Input: These findings suggest that increased mGluR5 expression on primary afferent neurons contributes to increased glutamatergic input to spinal dorsal horn neurons and nociceptive transmission in diabetic neuropathic pain.

neuropathic pain

neuropathic pain


Input: Although the role of HO1 in tumorigenesis remains controversial, recent evidence suggests NGF and HO1 as tumor-progressing factors.

NGF

tumorigenesis


Input: Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.

autosomal recessive axonal neuropathy with neuromyotonia

autosomal recessive axonal neuropathy with neuromyotonia


Input: The development of disturbed substrate utilization of FASN transgenic cardiomyocytes and signs of heart failure were retarded by the transgenic expression of GRKInh, a peptide inhibitor of GRK2.

FASN

heart failure

FASN

heart failure


Input: The results presented in this report significantly advance our understanding of the regulatory mechanism that links copper-translocation activity with copper-induced intracellular trafficking of ATP7B, which is central to hepatic and hence systemic copper homoeostasis.

translocation


Input: These are the first cases of primary hyperoxaluria type 1 to be diagnosed by clinical manifestations and AGXT gene mutations in mainland China.

AGXT

primary hyperoxaluria type 1

AGXT

primary hyperoxaluria type 1


Input: The results revealed that PMQ could downregulate the expression of the NADPH oxidase gene and reduce angiotensin II-induced cardiac hypertrophy and apoptosis in rats.

angiotensin II

cardiac hypertrophy

angiotensin II

cardiac hypertrophy


Input: The acinar regulator Gata6 suppresses KrasG12V-driven pancreatic tumorigenesis in mice.

tumorigenesis


Input: Mutations in the FUS gene were identified in patients with familial ALS (FALS) and patients with sporadic ALS (SALS) from a variety of genetic backgrounds.

FUS gene

sporadic


Input: We conclude that loss of PTEN and subsequent activation of AKT impair CHK1 through phosphorylation, ubiquitination, and reduced nuclear localization to promote genomic instability in tumor cells.

AKT

genomic instability


Input: The high frequency of aberrant persistence of IGF2R imprinting in the kidneys of Wilms' tumor patients, which may be an embryonic feature, suggests that it is a predisposing factor in tumorigenesis.

tumorigenesis


Input: mRNA and protein levels of complex I subunits NDUFV1, NDUFV2 and NADUFS1, were assessed in striatal and lateral cerebellar hemisphere postmortem specimens and analyzed together with our previous data from prefrontal and parieto-occipital cortices specimens of patients with schizophrenia, bipolar disorder, major depression and healthy subjects.

major depression

major depression


Input: Increased tropoelastin and procollagen expression in the lung of nitrofen-induced diaphragmatic hernia in rats.

tropoelastin

diaphragmatic hernia

tropoelastin

diaphragmatic hernia


Input: The present study suggests that, at least in our panel of TGCT cell lines, hypersensitivity for cisplatin-induced apoptosis might not be necessarily correlated with the presence of wild-type p53 and is probably not associated with Bcl-2 and Bax expression.

hypersensitivity


Input: The results suggest that EGFR mutations are common in female, never-smoking lung cancer cases from the United States, and EGFR mutations are unlikely due to exposure to radon or passive smoking.

EGFR

smoking


Input: Furthermore, CG8316 and CG15599-genes identified in a retinal degeneration screen to modify mutant YARS, also modified the mutant GARS phenotypes.

GARS

retinal degeneration


Input: The authors characterized the pharmacokinetics of lamivudine (n = 27), zidovudine (n = 16), and stavudine (n = 11) in human immunodeficiency virus (HIV)/tuberculosis (TB)-coinfected Ghanaians and evaluated associations between zidovudine metabolism and UDP-glucuronosyltransferase (UGT) 2B7 polymorphisms.

UGT

tuberculosis


Input: Mutations in the ATP7B gene were analysed in a total of 64 individuals from 40 different WD families by PCR amplification, single-strand conformation polymorphism (SSCP) analysis and sequencing.

WD

WD


Input: The authors used real-time methylation-specific polymerase chain reaction analysis to determine methylation status of the RUNX3 promoter in a spectrum of gastric lesions, including 220 samples of chronic atrophic gastritis, 196 samples of intestinal metaplasia, 134 samples of gastric adenoma, 102 samples of dysplasia, and 202 samples of GC with paired noncancerous mucosa tissues and corresponding blood specimens.

gastric adenoma


Input: The steady-state mRNA expression levels for epidermal growth factor receptor (EGFR; growth), basic fibroblast growth factor (bFGF) and interleukin (IL)-8 (angiogenesis), 72-kd and 92-kd type IV collagenase (invasion), E-cadherin (adhesion), and multidrug resistance (mdr-1; drug resistance) were measured by Northern blot and colorimetric in situ hybridization techniques in human PC-3M cells and selected cell variants with different metastatic potentials.

EGFR

adhesion


Input: Therefore, in glioblastoma cells, transcriptional regulation of the VEGF promoter by EGFR appears to involve Ras/PI (3) kinase and to be distinct from signals induced by hypoxia.

VEGF

hypoxia


Input: We show that combined Rae1 and Nup98 haploinsufficiency in mice results in premature separation of sister chromatids, severe aneuploidy and untimely degradation of securin.

securin

aneuploidy


Input: We conclude that, in obesity, insulin resistance in adipocytes is due to depletion of GLUT 4 glucose transporters, and that the cellular content of GLUT 4 is determined by the level of encoding mRNA over a wide range of body weight.

GLUT

insulin resistance


Input: In these tumors BOB. 1/OBF. 1 is typically coexpressed with high levels of Bcl6.

OBF

tumors


Input: The frequency of the 5HTTLPR and of HTR2A T102C genotypes or alleles was similar between three groups of pregnant women and was not associated with low platelet 5-HT concentrations observed in pregnant women with PIH or pre-eclampsia.

eclampsia


Input: Colorectal cancer (CRC) cell lines displaying microsatellite instability (MSI) are resistant to 5-fluorouracil in vitro, which can be overcome by restoring DNA mismatch repair (MMR) competence.

MMR

microsatellite instability


Input: We conclude that that 45% of a subgroup of children with autism suffers from low NK cell activity, and that low intracellular levels of glutathione, IL-2 and IL-15 may be responsible.

autism

autism


Input: Using polymerase chain reaction, the authors examined both Hodgkin' s disease (n = 60) and reactive lymph nodes (n = 34) for the presence of bcl-2/JH breakpoint fragments, which are indicative of the t (14; 18) chromosomal translocation in the major breakpoint region of the bcl-2 gene.

bcl-2 gene

chromosomal translocation


Input: The molecular alteration of TP53, p16INK4A, and p15INK4B genes may be useful as a prognostic marker in scrotal cancer.

scrotal cancer


Input: Moreover, protein and mRNA expressions of MLN64 that regulating cholesterol transport and activating protein 2 & #947; (AP2 & #947;/Tfap2c) that controlling P450scc/CYP11a gene expression in placenta were both decreased following maternal cocaine use in pregnancy.

cocaine use

cocaine use


Input: MCT8 knockout mice lack neurological damage, but mimic TH abnormalities of MCT8 patients.

abnormalities


Input: The disease is caused by mutations in the ABCC6 gene and characterized by ectopic calcification and extracellular matrix (ECM) alterations.

ABCC6 gene

ectopic calcification


Input: These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously, with notable similarities to the phenotype of the Gnat1 knockout mouse.

mild


Input: Tumors with PLK1 overexpression were associated more frequently with CIN (p < 0. 0001), DNA aneuploidy (p = 0. 0007) and centrosome amplification (p = 0. 0013) than those without.

aneuploidy


Input: Whether the IL-17A expression was originated from Th17 and could be stimulated by hypoxia remained unknown.

hypoxia


Input: Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.

acid beta-galactosidase

corneal clouding

acid beta-galactosidase

corneal clouding


Input: The upregulated genes were NF-kappaB genes (NFKB1, RELA, IKBKG, NFKBIB, NFKB2, REL, CHUK), apoptosis genes (MCL1L, TNFAIP3/A20, GADD45B, FASLG, MCL1S, IER3L, TNFRSF10B/TRAILR2), immune response genes (CD40, CD48, TNFSF11/RANKL, TNFRSF11A/RANK, CCL2/MCP-1, CD40LG, IL15, GBP1), proliferation genes (CCND2, CCND3, CSF1R, CSF1, SOD2), tumor-promoting genes (CXCL12, SELE, TNC, VCAM1, ICAM1, PLAU/UPA) or angiogenesis genes (PTGS2/COX2, CXCL1/GRO1).

NFKBIB

tumor


Input: Direct intradermal administration of IL-23 in mouse skin, but not IL-12, initiates a tumor necrosis factor-dependent, but IL-17A-independent, cascade of events resulting in erythema, mixed dermal infiltrate, and epidermal hyperplasia associated with parakeratosis.

erythema


Input: STAB1 is located in close proximity to PBMR1 and the NEK4-ITIH1-ITIH3-ITIH4 region, which are the top findings from GWAS meta-analyses of mood disorder, and a combined BD and schizophrenia data set.

BD

BD


Input: Translocation t (15; 19) (q13; p13. 1) defines a lethal midline carcinoma arising adjacent to respiratory tract in young people.

carcinoma


Input: Our previous study demonstrated that STAT3 (signal transducer and activator of transcription 3) up-regulates HIF-1alpha (hypoxia inducible factor-1alpha) protein stability and enhances HIF-1-mediated VEGF expression in hypoxic solid tumor cells, thus suggesting that the inhibition of STAT3 signaling may have clinical applications.

VEGF

hypoxic


Input: Inclusion-body myopathy, Paget' s disease of bone and frontotemporal dementia is an adult-onset autosomal dominant illness (IBMPFD) caused by mutations in the valosin-containing protein (VCP) on chromosome 9p21. 1-p12.

frontotemporal dementia


Input: The distribution of DR3 and DR4 risk alleles was not associated with cardiovascular autonomic neuropathy both in patients with normal albumin excretion rate and microalbuminuria (1. 6 vs 2. 1; p = 0. 21).

microalbuminuria


Input: Similarly, transcripts associated with cholesterol and lipoprotein metabolism showed a differential expression, with APOE and ABCA being decreased and VLDLR being increased in obese versus lean subjects.

VLDLR

obese

VLDLR

obese