Input: Interestingly, a deletion in a proline-rich repeat region (amino acids 274 to 289) of EBV commonly reported in EBV sequenced from cancer specimens was not observed in acute infectious mononucleosis (AIM) patients.

AIM

infectious mononucleosis


Input: Among the upregulated genes that were validated by quantitative PCR and western blotting we recognized several interferon-stimulated genes (ISGs: IFIT1, IFIT2, IFIT3, IFI6, IRF7, ISG15, HLA-DRA, HLA-DRB, TLR3 and CIITA), as well as genes involved in intercellular adhesion and matrix remodeling.

adhesion


Input: The present results demonstrate that the disruption of Npr1 gene activates proinflammatory cytokines leading to fibrosis, hypertrophic growth, and remodeling of the kidneys of mutant mice.

fibrosis

fibrosis


Input: AMH sequencing revealed no abnormalities.

AMH

abnormalities


Input: Successful versus failed adaptation to high-fat diet-induced insulin resistance: the role of IAPP-induced beta-cell endoplasmic reticulum stress.

IAPP

insulin resistance


Input: Okihiro syndrome is caused by SALL4 mutations.

Okihiro syndrome

Okihiro syndrome


Input: Modulation of CYP3A4 activity and induction of apoptosis, necrosis and senescence by the anti-tumour imidazoacridinone C-1311 in human hepatoma cells.

necrosis


Input: The spindle assembly checkpoint (SAC) has been established as an important mechanism of driving aneuploidy, which occurs at a high frequency in the colorectal tumorigenesis.

SAC

aneuploidy


Input: Filamin A mutations, all leading to a truncated protein, have been reported in three families and in sporadic patients.

Filamin A

sporadic


Input: In the catalepsy test, felbamate antagonized dopamine D2 receptor-but not D1 receptor-induced akinesia.

dopamine D2 receptor

catalepsy

dopamine D2 receptor

catalepsy


Input: In vitro invasiveness of U251, U87, and SNB19 glioma cells was inhibited by fascin siRNA treatment by 52. 2%, 40. 3%, and 23. 8% respectively.

glioma


Input: We have identified a 24-kilodalton protein that is the product of the human bcl-2 gene, implicated as an oncogene because of its presence at the site of t (14; 18) translocation breakpoints.

bcl-2 gene

translocation


Input: Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

retinal degeneration

retinal degeneration


Input: Besides, we found several previously reported characters in pale ear mice, including macromelanosomes in the neural crest-derived melanocytes and increased accumulation of lipofuscin in the RPE, were absent in pearl mice.

RPE

pale


Input: To date FUS mutations are responsible for 4%-6% of familial cases as well as 0. 7%-1. 8% of sporadic cases.

FUS

sporadic


Input: All 1222 CRC from the EPICOLON cohort underwent tumour MMR testing with immunohistochemistry and microsatellite instability, and those with MMR deficiency (n = 91) underwent MLH1/MSH2 germline testing.

MMR

microsatellite instability


Input: In the present study, we analyzed the expression of the MKP1, MKP2, and MKP3 isoforms in rat brain after electroconvulsive seizure (ECS), considered the most effective treatment for depression.

depression

depression


Input: Thus, the inactivation of STAT3 resulting from the loss of gp130 may be a key event in the transition from cardiac hypertrophy to heart failure.

cardiac hypertrophy


Input: Costello syndrome (CS; MIM 218040) is characterized by short stature, facial dysmorphism, cardiac defects and predisposition to embryonal rhabdomyosarcoma (CS/ERMS) and other neoplasias.

MIM

facial dysmorphism


Input: To pursue the pathogenesis of endometrial carcinogenesis, we investigated microsatellite instability, mutations in the PTEN, TGF beta RII, IGFIIR, and BAX genes, and LOHs on 10q in 18 putative endometrial premalignant lesions (11 endometrial atypical hyperplasias (ATHs), 2 complex hyperplasias, and 5 simple hyperplasias) as well as 8 endometrial cancers (ECs).

BAX

premalignant


Input: One of the genes identified was that for neural cell adhesion molecule (NCAM, CD56), a major regulator of development, cell survival, migration, and neurite outgrowth in the nervous system.

neural cell adhesion molecule

nervous system


Input: In a multivariate Cox regression model, only Rai stage, beta2-M, and sCD138 remained predictors of survival.

regression


Input: In cell culture, d12. CALP at low multiplicity of infection (0. 001 plaque-forming unit/cell) selectively killed calponin-positive human synovial sarcoma, leiomyosarcoma, and osteosarcoma cells.

leiomyosarcoma


Input: Furthermore, restoration of Nrf2 function in transformed cells decreased reactive oxygen species and impaired in vivo tumor growth (P = 0. 001) by mechanisms that included sensitization to apoptosis, and a decreased hypoxic/angiogenic response through HIF-1α destabilization and VEGFA repression.

VEGFA

hypoxic


Input: Enhanced expression of Vascular-endothelial-growth-factor-receptor (VEGF-R) and Transketolase-like-1 (TKTL1) are related to hypoxic conditions in tumours.

VEGF

hypoxic


Input: SOX17 is frequently methylated in esophageal cancer and in a progression tendency during esophageal carcinogenesis.

esophageal


Input: The results indicate that the gene expression of MASH-1, MATH-1, neuroD and NSCL-2 during neural differentiation in P19 cells is transient and the order is similar to that in the mouse embryo nervous system as previously reported.

nervous system


Input: TRK-T1 is a novel oncogene formed by the fusion of TPR and TRK genes in human papillary thyroid carcinomas.

TPR

papillary thyroid carcinomas

TPR

papillary thyroid carcinomas


Input: Guidelines recommend the use of mean corpuscular haemoglobin (MCH) alone or in combination with mean corpuscular volume (MCV) in screening for alpha-and beta-thalassaemia.

MCH

mean corpuscular volume


Input: The leukemia-associated fusion gene AML1/MDS1/EVI1 (AME) encodes a chimeric transcription factor that results from the (3; 21) (q26; q22) translocation.

translocation


Input: The convulsions induced by isoniazid (INH) were very resistant to both caerulein and diazepam; CCK-8 was not tested against isoniazid.

CCK

convulsions

CCK

convulsions


Input: Tumours of appendix, including classic carcinoid tumour (CCT), goblet cell carcinoid (GCC), low-grade appendiceal mucinous neoplasm, high-grade appendiceal mucinous neoplasm/mucinous carcinoma (MCA) and non-mucinous adenocarcinoma (NMA), show different and sometimes mixed morphological features.

NMA

low-grade appendiceal mucinous neoplasm


Input: Mutation analysis of the Gadd45 gene at exon 4 in atypical fibroxanthoma.

atypical fibroxanthoma


Input: A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.

Coppock-like cataract

Coppock-like cataract


Input: Our data provide the first evidence that blockade of ET (A) R-driven EMT can overcome chemoresistance and inhibit tumor progression, improving the outcome of EOC patients' treatment.

EMT

tumor progression


Input: A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma.

transforming growth factor-beta receptor type II

oesophageal carcinoma

transforming growth factor-beta receptor type II

oesophageal carcinoma


Input: Longitudinal evaluation of FGF23 changes and mineral metabolism abnormalities in a mouse model of chronic kidney disease.

abnormalities


Input: We describe a case of bilineal leukemia in a 5-year old boy with a rare immunophenotype and the novel translocation t (9; 17) (p11; q11) as the sole chromosomal abnormality.

chromosomal abnormality


Input: The first symptomatic bleeding leading to diagnosis of severe hemophilia (< 1%) occurred with a median (range) age of 1. 6 years (0. 5-7. 1) in children carrying defects within the protein C pathway or the PT gene mutation compared with non-carriers of prothrombotic risk factors (0. 9 years (0. 1-4. 0; p = 0. 01).

protein C

bleeding


Input: Epithelial-mesenchymal transition (EMT) contributes to tumor progression in various cancers.

EMT

tumor progression


Input: During tumour progression, EMT may enhance cancer cell invasion, promoting tumour metastasis.

EMT

tumour progression


Input: The absence of two glycosylphosphatidylinositol (GPI)-anchored proteins, CD55 and CD59, leads to uncontrolled complement activation that accounts for hemolysis and other PNH manifestations.

GPI

hemolysis


Input: Transmission disequilibrium of maternally-inherited CTLA-4 microsatellite alleles in idiopathic recurrent miscarriage.

recurrent miscarriage


Input: CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

CLAPO syndrome

CLAPO syndrome


Input: MUC1/glyceraldehyde-3-phosphate dehydrogenase messenger RNA (mRNA) ratio in intraductal papillary mucinous carcinoma (IPMC; median, 4710. 7) was significantly higher in intraductal papillary mucinous adenoma (IPMA; median, 727; P = 0. 0229).

glyceraldehyde-3-phosphate dehydrogenase

mucinous adenoma


Input: Cluster analysis however revealed that simultaneous high expression of SLC31A1, ABCC2, and ABCG2 indicates poor survival of HNSCC patients.

HNSCC

HNSCC


Input: We therefore assessed association of 6 tagging single nucleotide polymorphisms (tagSNPs), which were predicted to cover 96% the common genetic variability of GOAT plus 50 kb of the 5' and 3' flanking region, in 543 German patients with AN and 612 German normal and underweight healthy controls.

GOAT

underweight


Input: VIIc was significantly increased in renal disease states and strongly influenced by a common polymorphism of the factor VII gene, but the increase in VIIc and its correlation with lipids was not genotype specific.

factor VII

renal disease


Input: Results showed that HLA-DRB1 * 08 was negatively associated with asthma (2% vs 17%; Pc = 0. 02; OR = 0. 08) and atopy (0% vs 16%; Pc = 0. 04; OR = 0. 1), while DRB1 * 15 was positively associated with asthma (36% vs 13%; Pc = 0. 02; OR = 3. 6).

atopy


Input: The objectives of this study were to determine the influence LPL mutations Asn291Ser and Ser447Ter on plasma lipid levels, regression and progression of CAD, clinical events rate, and response to fluvastatin therapy in the Lipoprotein and Coronary Atherosclerosis Study (LCAS) population.

LPL

regression


Input: In 289 patients with T3-4 (77. 8%), node-negative (84. 1%) tumors of the larynx, high EGFR and CCND1 mRNA correlated with no or ex-smoking, (p = 0. 003 and p = 0. 029, respectively), while low Akt3 mRNA correlated with alcohol abuse, N0 stage, total laryngectomy, and absence of neck dissection.

EGFR

smoking


Input: A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.

FKRP

Walker-Warburg syndrome

FKRP

Walker-Warburg syndrome


Input: A novel role for the retinoic acid-catabolizing enzyme CYP26A1 in Barrett' s associated adenocarcinoma.

adenocarcinoma

adenocarcinoma


Input: Tetraspanins including CD9, CD37, CD63, and CD151 are linked to cellular adhesion, cell differentiation, migration, carcinogenesis, and tumor progression.

carcinogenesis


Input: We found that expression of CD151 was positively related to metastatic potential of HCC cell lines, and modified cells with CD151 (high) showed higher secretion of matrix metalloproteinase 9 and aggressiveness in vitro and higher metastatic ability in vivo.

aggressiveness


Input: However, among subjects with microalbuminuria, those with the ACE DD genotype had a significantly greater urinary albumin excretion than individuals with a non-DD genotype [median 88 (68 to 170) mg/liter vs. 67 (53 to 113) mg/liter, P < 0. 001].

ACE

microalbuminuria


Input: A female patient with the karyotype 45, X/46, X, r (X) (p11. 2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome.

hypotonia


Input: Finally, similar levels of PGE (2) expression and p65 translocation into the nucleus were found in both patients and healthy volunteers, thus suggesting that TREM-1 regulation is neither controlled by PGE (2) levels nor by p65 activation in this case.

translocation


Input: ITGA2 haplotype 2 (807C) and ITGA2B haplotype 1 (Ile (843)) were each associated with increased bleeding severity scores (P <. 01 and P <. 01, respectively).

bleeding


Input: Furthermore, we show that the wild-type HSPB1 protein undergoes monomerization during heat-shock activation, strongly suggesting that the monomer is the active form of the HSPB1 protein.

shock


Input: Moreover, these animals exhibited renal inflammation, fibrosis, and increased cyclin E. These results indicate that FHHt-associated CUL3 Δ403-459 targets KLHL3 for degradation, thereby preventing WNK degradation, whereas general loss of CUL3 activity-while also impairing WNK degradation-has widespread toxic effects in the kidney.

fibrosis


Input: This finding supports the notion that SOX2 contributes to the tumorigenesis of lung cancer cells and can be used as a diagnostic probe.

tumorigenesis


Input: The impact of cocaine addiction on GMV, tested by (1) comparing the CUD group with controls, (2) testing diagnosis & #215; MAOA interactions, and (3) correlating GMV with lifetime cocaine, alcohol, and cigarette smoking, and testing their unique contribution to GMV beyond other factors.

MAOA

cocaine addiction

MAOA

cocaine addiction


Input: The aim of this study was to evaluate the effect of inflammation on NAD (P) H: quinone oxidoreductase-1 (NQO1), the xenobiotic metabolizing and antioxidant enzyme protecting cells against electrophiles and reactive oxygen species in biliary cancer (cholangiocarcinoma) cells.

inflammation


Input: This review summarizes what is known regarding the relationships of the ABCB1 and CYP3A5 genes with blood pressure, and discusses the potential underlying mechanisms of the association.

blood pressure


Input: Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.

thanatophoric dysplasia type I

thanatophoric dysplasia type I


Input: The A375 and C8161 melanoma cell lines were stably transfected with ODAM and assayed for properties associated with tumorigenicity including cell growth, motility, and extracellular matrix adhesion.

ODAM

adhesion


Input: Restoration of miR-7 suppresses the expression of the stemness factor KLF4 in PCSCs and inhibits prostate tumorigenesis both in vitro and in vivo.

tumorigenesis


Input: In this study, we show that mono-(2-ethylhexyl) phthalate (MEHP) induces matrix metalloproteinase 2 (MMP2) expression in testicular embryonal carcinoma NT2/D1 cells but has no significant effect on MMP9 expression.

testicular embryonal carcinoma


Input: High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.

Wilson disease

Wilson disease


Input: Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.

Pendred syndrome

Pendred syndrome


Input: LIT1 and H19 methylation defects in isolated hemihyperplasia.

hemihyperplasia

hemihyperplasia


Input: Moreover, germline and somatic gain-of-function mutations of MALT1, BCL10, and CARD11 have also been found in patients with other lymphoproliferative disorders.

lymphoproliferative disorders


Input: Activation-induced cytidine deaminase (AID) not only promotes immune diversity by initiating somatic hypermutation and class switch recombination in immunoglobulin genes but also provokes genomic instability by introducing translocations and mutations into non-immunoglobulin genes.

AID

genomic instability


Input: The frequency of the TNFA * 2 allele was significantly higher in atopic subjects compared to the control group (38. 5% vs. 10. 5%; chi2 = 32. 06; p < 0. 0001).

TNFA

atopic


Input: We analysed (n = 386, controls and n = 384, MetS subjects) for MCP-1 gene polymorphism using PCR-RFLP, its serum level using ELISA, anthropometric (body mass index, waist and hip circumferences, waist-hip ratio and blood pressure) and biochemical (serum lipids, plasma glucose and insulin levels) variables in a genetic association study.

waist-hip ratio


Input: In support of our prediction, GPR52 knockout and transgenic mice exhibited psychosis-related and antipsychotic-like behaviors, respectively.

psychosis

psychosis


Input: Lower doses of systemic morphine (50 mg/kg) were necessary to block i. c. v. morphine seizures than the dose (100 mg/kg) necessary to block seizures induced by i. c. v. Leu-enkephalin and beta-endorphin.

beta-endorphin

seizures

beta-endorphin

seizures


Input: To our knowledge, this is the first association study between ERBB3 and schizophrenia in the Caucasian population.

schizophrenia

schizophrenia


Input: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

congenital nonprogressive spinocerebellar ataxia

congenital nonprogressive spinocerebellar ataxia


Input: Murine knockouts of HIF, pVHL, PHD, and VEGF have demonstrated the essential role of these hypoxic response pathway proteins in development.

VEGF

hypoxic


Input: This report suggests that SHOX gene triplication may produce a tall stature, even in the presence of preserved ovarian function.

SHOX gene

tall stature


Input: Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay.

MIM

facial dysmorphism


Input: The translocation results in fusion of the SYT gene on chromosome 18 to either the SSX1 or the SSX2 gene, two homologous genes within Xp11. 2.

SSX2 gene

translocation


Input: Moreover, we demonstrated that myeloid differentiation primary response gene 88 (MyD88) lies downstream of LPS/TLR4 and upstream of BLT2 and that this' MyD88-BLT2' cascade mediates ERK activation and subsequent ICAM-1 expression, which is critical for the adhesion of MDA-MB-231 cells to THP-1 monocytes.

adhesion


Input: To elucidate the role of the genetic variants of cell death pathway genes in male infertility, we genotyped the polymorphisms of FAS, FASLG and caspase-8 (CASP8) genes and evaluated their effects on sperm apoptosis and semen quality in infertile men.

FASLG

male infertility


Input: The genome-wide accumulation of DNA replication errors known as microsatellite instability (MSI) is the hallmark lesion of DNA mismatch repair (MMR)-deficient cancers.

MMR

microsatellite instability


Input: In those with a non-movement presentation, language disorder was more common in PGRN subjects (18. 7%) compared to MAPT subjects (5. 4%).

PGRN

language disorder


Input: In conclusion, we have shown that a human revertant lung cancer cell line (COR-L23/Rev) has the ability to recover quickly, similar levels of MRP expression and resistance as COR-L23/R after a transient exposure to the MDR-drugs doxorubicin and vincristine.

lung cancer


Input: The data, in conjunction with previous studies, suggest that different types (Th1 and Th2 associated) of DTH responses may function differently in host defense against chlamydial infection and that the functional differences in DTH responses may account for the dual role that DTH is speculated to play in chlamydial protective immunity and immunopathology.

chlamydial infection


Input: Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.

Waardenburg syndrome type I

Waardenburg syndrome type I


Input: Importantly, ACLP-deficient mice accumulated significantly fewer myofibroblasts and less collagen in the lung after bleomycin injury, as compared with wild-type controls, despite equivalent levels of bleomycin-induced inflammation.

ACLP

inflammation


Input: We suggest that the 20210 G/A prothrombin gene mutation be measured in all women on ERT or before beginning ERT to identify those heterozygous for the thrombophilic prothrombin gene mutation (4%) in whom ERT is contraindicated because of increased risk for ATCVD and thromboembolism, and a second, much larger group of women without the 20210 G/A prothrombin gene mutation (96%) in whom ERT may possibly reduce risk for ATCVD.

ERT

thromboembolism


Input: Deletions removing exons 33 and 34 of the large splice variant of ULK4 also were enriched in Icelandic schizophrenia and bipolar patients compared with 98, 022 controls (P & #8202; = & #8202; 0. 0007 for schizophrenia plus bipolar disorder).

bipolar disorder

bipolar disorder


Input: In this study, we tested the genetic association of DGKH, DFNB31 and SORCS2 with BD.

BD

BD


Input: BRCA1-mutated tumors show genomic instability, mainly as a consequence of impaired recombinatorial DNA repair.

genomic instability


Input: When elevated thyrotropin (TSH) and/or decreased T4 are found in the blood of neonates, they are recalled, values are confirmed in venous blood and thyroxine replacement therapy (TRT) is immediately instituted, thus cretinism or severe retardation is prevented.

TRT

cretinism


Input: We have described, for the first time, that pancreatic ductal adenocarcinomas (PDACs) with an aggressive behavior and a poor outcome expressed MUC1 (pan-epithelial membrane-associated mucin) but did not express MUC2 (intestinal-type secreted mucin), whereas intraductal papillary mucinous neoplasms (IPMNs) with indolent behavior and a favorable outcome did not express MUC1 but did express MUC2.

aggressive behavior


Input: High ACP1 activity/low ADA activity joint genotype was positively associated with high glycemic levels and with high body mass index (BMI) values.

body mass index


Input: After ischemia, there was increased immunoreactivity within neurons in dentate gyrus, CA3, and cortex.

ischemia


Input: CD154 expression in the vessel wall and plaque size correlated significantly.

plaque


Input: In patients with anaplastic astrocytoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma, combination of germ-line GSTP1 * A/* A and GSTM1 null genotype confers a survival advantage.

anaplastic oligodendroglioma


Input: Taken together, Gyp induced DNA damage and inhibited DNA repair-associated gene expressions in human oral cancer SAS cells in vitro.

SAS

oral cancer


Input: Spiruchostatin B (SP-B) is a potent histone deacetylase (HDAC) inhibitor that has potential for the chemotherapy of leukemia.

SP-B

leukemia


Input: Up-regulation of CYP26A1 in adenomatous polyposis coli-deficient vertebrates via a WNT-dependent mechanism: implications for intestinal cell differentiation and colon tumor development.

adenomatous polyposis coli

adenomatous polyposis coli


Input: In situ hybridization analysis revealed that lumican mRNA was not expressed in squamous or ductal epithelial cells in non-cancerous tissues, but was expressed in most cancer cells and stromal fibroblasts in uterine cervical cancer tissues.

lumican

uterine cervical cancer


Input: In order to identify additional genotypes in primary hyperoxaluria type 1, we sequenced the AGXT genes of 9 patients. We report 5 new mutations.

AGXT

primary hyperoxaluria type 1

AGXT

primary hyperoxaluria type 1


Input: In our studies we identified the human lethal giant larvae homologue 2, Hugl-2, (Llgl2/Lgl2) polarity gene as downregulated by Snail.

giant


Input: An anti-inflammatory role for carbon monoxide and heme oxygenase-1 in chronic Th2-mediated murine colitis.

heme oxygenase-1

colitis

heme oxygenase-1

colitis


Input: The potent antiangiogenic effects of hypoxic cytotoxins can be attributed to the suppression of VEGF and HIF-1 induction through the hypoxia-inducible pathway.

VEGF

hypoxia


Input: Microinjection of NPY (160 pmol) into the areas adjacent to the LC did not attenuate the rigidity.

NPY

rigidity

NPY

rigidity


Input: Most importantly, we found that the gene silencing factor methyl CpG-binding domain protein 3 (MBD3) was not only released from cancer-selective promoter of the HDI up-regulated p21 (WAF1/Cip1) gene but also recruited to that of the HDI-down-regulated ErbB2 gene.

cancer


Input: We found that two out of eight HMG samples showed trisomy of chromosome 1q, which encompasses many genes, including AKT3, a gene known to regulate brain size.

HMG

HMG


Input: In this study, we investigated whether the peripheral pool and the function of CD4 (+) CD25 (+) Tregs are altered in patients of myasthenia gravis (MG), a chronic autoimmune disorder that results in progressive skeletal muscle weakness.

myasthenia gravis


Input: We have further validated the protein overexpression of ErbB3, Dr5 and Znf146, using immunohistochemical (IHC) analysis on a tissue microarray that contained 75 BAs and normal gastric and esophageal mucosae samples.

esophageal


Input: A significant acceleration in mammary tumor incidence and growth was observed in the MMTV-Wnt/ILK mice.

ILK

mammary tumor


Input: In the subgroup of primary ALL cells, with low expression of caspase-8, methotrexate (MTX) upregulated the expression of caspase-8 mediated by the transcription factor p53, suggesting epigenetic silencing of caspase-8.

ALL

ALL


Input: We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein.

VHL

VHL

VHL

VHL


Input: In conclusion, we demonstrated that decreased colonic MFG-E8 expression in patients with ulcerative colitis may be associated with mucosal inflammatory activity and clinical disease activity through basal cell apoptosis and preventing tissue healing in the pathogenesis of ulcerative colitis.

ulcerative colitis


Input: Published studies suggest associations between circadian gene polymorphisms and bipolar I disorder (BPI), as well as schizoaffective disorder (SZA) and schizophrenia (SZ).

BPI

schizoaffective disorder


Input: Previously, we have associated exonic polymorphisms in a Xq13 thyroid receptor coactivator named HOPA with a modest increase in vulnerability to a broad spectrum of neuropsychiatric illness, including depression, psychosis, and hypothyroidism.

HOPA

depression

HOPA

depression


Input: To evaluate whether generalized xerosis was associated with asthma, independent of atopic dermatitis and common FLG mutations in a cross-sectional study on adult Danes.

FLG

xerosis


Input: In addition to central nervous system effects, we found that, in contrast to wild-type mice, Crhr2-/-mice fail to show the enhanced cardiac performance or reduced blood pressure associated with systemic Ucn, suggesting that Crhr2 mediates these peripheral haemodynamic effects.

blood pressure


Input: Across species, genetic variants that result in decreased expression of the Gstm1 gene are associated with increased susceptibility for vascular diseases, including atherosclerosis in humans.

Gstm1 gene

vascular diseases


Input: Of 40 patients with IL1A * 2, 18 (45%) had an unfavorable outcome (dead, vegetative state, or severe disability) compared with 7 (22. 5%) of 31 without IL1A * 2 (P =. 08).

vegetative state


Input: Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.

X-linked sideroblastic anemia

X-linked sideroblastic anemia


Input: This is the first report on Bad gene mutation in human malignancies, and our data suggest that s and that somatic mutation of Bad may contribute to the development of colon cancers.

Bad gene

somatic mutation


Input: Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease (AKAP6 in intellectual disability and UBR4 in early dementia).

intellectual disability

intellectual disability


Input: We have analyzed the expression of the three retinoic acid receptor (RAR) (alpha, beta, gamma) mRNAs and the intermediate filament protein keratin 19 (K19) mRNA in cell lines cultured from oral and epidermal human squamous cell carcinoma (SCC) and from benign, hyperplastic, and hyperkeratotic (leukoplakia) lesions arising in various regions of the oral cavity.

RAR

leukoplakia


Input: In a brief, the results support the hypothesis that polymorphisms or haplotypes in the LRRC4 may have important research significance and could be used to predict the risk of pituitary adenoma.

pituitary adenoma


Input: The activity of parenchymal aryl hydrocarbon hydroxylase (AHH) and epoxide hydrolase (EH) that had been determined previously in homogenates of non-neoplastic surgical lung specimens, was used for comparisons of the patients' survival after surgery.

AHH

non-neoplastic


Input: Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.

Denys-Drash syndrome

Denys-Drash syndrome


Input: Paradoxically, PTH also exerts anabolic actions, with intermittent injections of PTH or its amino-terminal fragments causing an increase in bone formation and bone mass, actions that form the basis for the use of PTH in the treatment of osteoporosis.

PTH

bone mass


Input: Taken together, these novel liver toxicity biomarkers, GSTA, ARG1, and HPD, add value (both enhanced specificity and sensitivity) to the measurement of ALT alone for monitoring drug-induced liver injury in rat.

HPD

drug-induced liver injury

HPD

drug-induced liver injury


Input: Overexpression analyses of the human NAT in human embryonic kidney (HEK293A) and human neuroblastoma (SH-SY5Y) cell lines show that it can function to downregulate Nav1. 7 mRNA, protein levels and currents.

NAT

neuroblastoma


Input: Mismatch repair (MMR) deficiency was determined by microsatellite instability (MSI) analysis, and immunostaining for MLH1, MSH2, MSH6, and PMS2 proteins.

MMR

microsatellite instability


Input: Owing to the parallelism between the in vitro insulin mimicry and the in vivo improvement of glucose handling elicited by benzylamine in rodents, the SSAO/VAP-1 substrates, with stronger effects on human adipocytes than benzylamine, show promising applications for the treatment of insulin resistance.

insulin resistance


Input: In contrast, alveolar macrophages from subjects with alcohol abuse had decreased MMP-9 and MMP-2 mRNA expression (p & lt; 0. 03 and p & lt; 0. 005, respectively).

alcohol abuse

alcohol abuse


Input: In addition to the Bj & #246; rnstad syndrome, BCS1L mutations cause complex III deficiency and the GRACILE syndrome, which in neonates are lethal conditions that have multisystem and neurologic manifestations typifying severe mitochondrial disorders.

GRACILE syndrome

GRACILE syndrome


Input: In the majority of the myeloma lines, the level of expression was comparable with that observed in Karpas 422, a follicular lymphoma cell line carrying a 14; 18 translocation of the bcl-2 gene.

bcl-2 gene

translocation


Input: Exposure of HTB-46 cells to heat shock, sodium arsenite, or cadmium chloride led to a 7-to 8-fold increase in MDR1 mRNA levels.

shock


Input: Our findings suggest that NKX2-5 mutations are a relatively infrequent cause of sporadic ASD and HLHS.

sporadic


Input: The mRNA expression of OSTalpha-OSTbeta was significantly reduced (OSTalpha: 3. 3-fold, P = 0. 006; OSTbeta: 2. 6-fold, P = 0. 03) in normal-weight but not overweight gallstone carriers compared with controls.

OSTalpha

overweight


Input: Loss of a part of chromosome 8p22, containing the gene LPL and amplifications of the field 8q24 comprising the c-myc oncogene are the most frequent chromosomal aberrations in prostate cancer.

myc oncogene

chromosomal aberrations


Input: Neuronal ceroid lipofuscinosis (NCL), commonly referred to as Batten disease, is a group of autosomal recessive neurodegenerative diseases of childhood characterized by seizures, blindness, motor and cognitive decline and premature death.

NCL

seizures


Input: Terminal ileal biopsies from 66 patients with prominent lymphoid hyperplasia and abnormal " lymphoma-like " morphology were evaluated by immunohistochemistry (IHC) for CD3, CD5, CD43, CD20, CD21, and CD10 expression and for IGH @gene rearrangement by polymerase chain reaction using BIOMED-2 primers.

IGH

lymphoid hyperplasia


Input: We evaluated the role of IFN-gamma in bone metastases, tumor-associated bone destruction, and hypercalcemia in human T cell lymphotrophic virus type 1-Tax transgenic mice.

IFN

hypercalcemia


Input: A silent polymorphism (707C & gt; T, rs1126616) of osteopontin was significantly associated with SLE.

osteopontin

SLE

osteopontin

SLE


Input: We describe five affected individuals with similar dysmorphic facies, and three of them had either complete situs inversus, dextrocardia, or transposition of the great arteries; similar cardiac abnormalities were previously identified in a mouse mutant for the orthologous Megf8.

dextrocardia


Input: The BCL2 gene was in germ-line configuration in all ILL. Sequential hybridization of Southern blots with JH, C mu, and BCLI probes identified comigrating fragments in only one case of ILL, which suggests that, in all the other cases, either the rearrangement of BCL1 did not result from a t (11; 14) translocation or the break on chromosome 14 occurred outside the JH or C mu regions.

BCL2 gene

translocation


Input: However, patients with end-stage liver failure respond to supraphysiological doses of GH with an increase in circulating insulin-like growth factor I levels.

insulin-like growth factor I

liver failure


Input: Chfr is linked to tumour metastasis through the downregulation of HDAC1.

Chfr

metastasis


Input: Collectively, we identified LASP1 as a hitherto unknown protein in melanocytes and as novel partner of dynamin in the physiological process of membrane constriction and melanosome vesicle release.

vesicle


Input: Significant correlations were found between the activities of GOT or GPT and fasting blood glucose, age, body mass index, heart rate and blood pressure levels.

GPT

blood pressure


Input: The incidence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC) and hyperparathyroidism (HPT) in the 37 MEN2A patients was 91. 9, 56. 8 and 10. 8%, respectively; the onset of MTC in MEN2A patients was earlier than that of PCC and HPT.

HPT

medullary thyroid carcinoma


Input: Aprataxin forms another discrete branch of the HIT superfamily, is implicated in DNA repair mechanisms and unlike the HINT and FHIT members, a defective protein can be conclusively linked to a disease, ataxia with oculomotor apraxia type 1.

HINT

ataxia with oculomotor apraxia


Input: The expression of beta2-microglobulin (beta2m), HLA-A, B, and C antigens, transporter associated with antigen processing 1 (TAP1), TAP2, low-molecular-weight protein 2 (LMP2), and LMP7 were analyzed using reverse-transcription polymerase chain reaction (RT-PCR) in microdissected tumor samples.

weight


Input: In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes.

Ellis van Creveld syndrome

Ellis van Creveld syndrome


Input: Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.

lipoprotein lipase

familial chylomicronemia

lipoprotein lipase

familial chylomicronemia


Input: This study investigated two variants, TNF-alpha-308 * 2 and lymphotoxin (LT)-alpha-NcoI * 1, which may predispose individuals to asthma and atopy pathogenesis.

TNF-alpha

atopy


Input: A DNA alteration in the merlin coding sequence caused a shift on SSCP gels that was characteristic of the disease chromosome in this NF2 pedigree, being transmitted with the disorder, present only in affected members of the pedigree, absent in unaffected members of the family, and absent from 158 unrelated individuals.

merlin

merlin


Input: The NUP98 gene at 11p15 is known to be fused to DDX10, HOXA9, HOXA11, HOXA13, HOXD11, HOXD13, LEDGF, NSD1, NSD3, PMX1, RAP1GDS1, and TOP1 in various hematologic malignancies.

hematologic malignancies


Input: We conclude that the Phe377del mutation in ANK causes impaired osteoblastogenesis and osteoclastogenesis resulting in hypomineralization and a high bone mass phenotype.

ANK

high bone mass


Input: In contrast to BL, MYC aberrations in DLBCL are usually associated with multiple cytogenetic abnormalities and other genetic lesions, such as concurrent BCL2 translocations.

MYC

cytogenetic abnormalities


Input: Long-term changes in catecholamine levels and expression of their biosynthetic enzymes are associated with several stress-related disorders such as elevated plasma norepinephrine in posttraumatic stress disorder and increased postmortem tyrosine hydroxylase in the locus coeruleus with major depression.

tyrosine hydroxylase

major depression

tyrosine hydroxylase

major depression


Input: We investigated microsatellite instability (MSI) and status of mismatch repair (MMR) gene product, MLH1, MSH2 and MSH6, in 63 sporadic endometrial cancers coexisting with colorectal or breast cancer.

sporadic


Input: Downregulation of PrP (C) makes gastric cancer cells more sensitive to hypoxia induced drug sensitivity.

PrP (C)

gastric cancer

PrP (C)

gastric cancer


Input: Disrupting Abca1 or Abcg1 in mice promotes accumulation of excessive cholesterol in macrophages, and physiological manipulation of ABCA1 expression affects atherogenesis.

atherogenesis


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: More recently, additional diseases have been linked to functionally altered variants in genes encoding for other NADPH oxidases, such as for DUOX2/DUOXA2 in congenital hypothyroidism, or for the Nox2 complex, NOX1 and DUOX2 as risk factors for inflammatory bowel disease.

congenital hypothyroidism


Input: They also demonstrate that most, if not all, patients with achondrogenesis type II/hypochondrogenesis have mutations in the COL2A1 gene.

hypochondrogenesis

hypochondrogenesis


Input: In addition, intraventricular administration of TRH, LHRH or LH caused tachycardia, hypertension and a reduction in the epinephrine-induced reflex bradycardia.

TRH

bradycardia

TRH

bradycardia


Input: The WHIM-like CXCR4 (S338X) somatic mutation activates AKT and ERK, and promotes resistance to ibrutinib and other agents used in the treatment of Waldenstrom' s Macroglobulinemia.

somatic mutation


Input: The effects of thyrotropin-releasing hormone (TRH) and its analog, N-[[(3R, 6R)-6-methyl-5-oxo-thiomorpholinyl] carbonyl]-L-histidyl-L-prolinamide tetrahydrate (NS-3, CG3703) on disturbance of memory of a passive avoidance response (PAR) and an escape response in rats were investigated.

PAR

disturbance of memory


Input: Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

aneurysms-osteoarthritis syndrome

aneurysms-osteoarthritis syndrome


Input: The aim of this study was to investigate MFAP5 localization in human AT and gene expression in adipocytes and the role of MFAP5 in adipocyte metabolism and inflammation.

inflammation


Input: By the analysis of plasma mRNA levels, we tested the hypothesis that, in human atheroma, CTSS activation coexists with activation of CD40.

atheroma


Input: Studying a large family with multiple cases of neonatal ketoacidotic comas and isolated COX deficiency, we have mapped the disease locus to chromosome 17p13. 1, in a region encompassing two candidate genes involved in COX assembly-namely, SCO1 and COX10.

COX deficiency

COX deficiency


Input: Recent studies have indicated that LKB1 is related to breast tumorigenesis and breast cancer progression.

tumorigenesis


Input: In conclusion, the majority of DFSP harbor the COL1A1/PDGFB translocation and FISH technique should be recommended as a routine diagnostic tool, especially in cases showing unusual histopathological subtypes and/or immunohistochemical features.

PDGFB

translocation


Input: Recent data suggest that the caudal homeobox transcription factors CDX1, CDX2, and CDX4, developmental regulators of HOX gene expression, may contribute to HOX gene dysregulation in leukemia.

leukemia


Input: Levothyroxin restores hypothyroidism-induced impairment of LTP of hippocampal CA1: electrophysiological and molecular studies.

hypothyroidism


Input: These studies showed that dexamethasone (Dex) induced Muc-1 expression on MM cell lines, as determined by both flow cytometry and Western blot analyses.

MM

MM


Input: Children with prior mild malaria had higher plasma MIF levels and PBMC MIF transcripts than children with an identical number of previous episodes of severe malaria.

MIF

mild


Input: Recent cloning of a cold/menthol-sensitive TRPM8 channel (transient receptor potential melastatine family member 8) from rodent sensory neurons has provided the molecular basis for the cold sensation.

cold


Input: Snail is required for mesoderm and neural crest formation during embryonic development and has recently been implicated in the EMT associated with tumour progression.

EMT

tumour progression


Input: Furthermore, intraperitoneal injection of 5-fluorouracil (5-FU) markedly inhibited the growth of the TSC-22-expressing TYS tumors, but did not affect the growth of control tumors.

TYS

tumors


Input: IL-10 mRNA was not detected while IL-4 mRNA was primarily detected in naïve T-lymphocytes of patients with a mild and early lesion.

mild


Input: The ABCC6 gene was sequenced in 38 unrelated PXE Italian families. The mutation detection rate was 82. 9%.

PXE

PXE


Input: From this group, for further analysis 127 patients were selected with overt proteinuria or chronic renal failure, 335 patients with microalbuminuria, and a control group of 254 normoalbuminuric patients with a diabetes duration of at least 10 yr. No significant differences in the distribution of ACE I/D and PstI genotypes or allele frequencies were observed between the examined groups.

ACE

microalbuminuria


Input: Here, we show that heterozygous BRCA1 inactivation results in genomic instability in nontumorigenic human breast epithelial cells in vitro and in vivo.

genomic instability


Input: Functional studies will be required to determine the potential role of these newly identified genomic abnormalities in contributing to the aggressiveness of BRAF-MUT and BRAF-WT tumors.

MUT

abnormalities


Input: Aldosterone-induced upregulation of NCC, Sgk1, and ENaC likely contributes to the antinatriuretic phase of metabolic acidosis.

metabolic acidosis


Input: Notch1-Snail1-E-cadherin pathway in metastatic hepatocellular carcinoma.

E-cadherin

metastatic hepatocellular carcinoma


Input: Mulibrey nanism (for muscle-liver-brain-eye nanism, MUL; MIM 253250) is an autosomal recessive disorder that involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene.

MIM

muscle-liver-brain-eye nanism


Input: Targeting inflammation by modulating the Jun/AP-1 pathway.

inflammation


Input: To assess the role of Wee1 in development and progression of malignant melanoma we examined its expression in a panel of paraffin-embedded patient derived tissue of benign nevi and primary-and metastatic melanomas, as well as in agarose-embedded cultured melanocytes.

nevi


Input: Computer-assisted quantification revealed a significant increase in A beta 42, but not A beta 40, burden in the brains from 4 PS1-FAD patients compared with those from 12 sporadic AD patients.

AD

AD


Input: Ablation of the Chrna7: Cre cell lineage in embryos from crosses with conditionally expressed attenuated diphtheria toxin results in precise developmental defects including omphalocele (89%) and open spina bifida (SB; 80%).

open spina bifida

open spina bifida


Input: Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia.

glycine decarboxylase

nonketotic hyperglycinemia

glycine decarboxylase

nonketotic hyperglycinemia


Input: Mutation of ADSL' s arginine 303 to a cysteine is known to lead to ADSL deficiency.

ADSL

ADSL deficiency

ADSL

ADSL deficiency


Input: Treatment with the three rhubarb extracts improved renal injury and dysfunction, either fully or partially reversed the plasma metabolites abnormalities and attenuated upregulation of pro-fibrotic proteins including TGF-β1, α-SMA, PAI-1, CTGF, FN and collagen-1.

CTGF

abnormalities


Input: Rearrangements of the AML1/CBFA2 gene in myeloid leukemia with the 3; 21 translocation: in vitro and in vivo studies.

translocation


Input: As a candidate regulator of the cell cycle in leukemia cells with high EVI1 expression (EVI1 (high)), we analyzed angiopoietin1 (Ang1), which is a down-regulated gene in EVI1-deficient mice and is involved in the quiescence of hematopoietic stem cells.

leukemia


Input: Serum MIF levels were higher in severe AP patients than mild AP patients and healthy controls.

MIF

mild


Input: In the present study we examined the effect of promoter and coding single nucleotide polymorphisms (SNPs) in six major spindle checkpoint genes (BUB1B, BUB3, CENPE, MAD2L1, MAD2L2, TTK) on familial breast cancer (BC) risk.

familial breast cancer


Input: In this study, human CUL4A (hCUL4A) was expressed in rat pheochromocytoma (PC12) cells using adenoviral vector-mediated gene transfer, and the effects of hCUL4A expression on hypoxia-reoxygenation injury were investigated.

hypoxia


Input: OGC and granulomas were frequently observed in the glandular lumens with accumulated mucus.

OGC

granulomas


Input: We report a female infant with a karyotype of 46, XX, der (9) t (9; 18) (p22. 2; q21. 32) pat and the phenotypic features of craniofacial dysmorphisms, developmental delay, hypotonia, horizontal nystagmus, strabismus, congenital heart defects, clubfoot, and anorectal malformations with an anterior ectopic anus and a stenosed anal opening.

ectopic anus


Input: In 3 newborns with CK > 2, 000U/l in whom DMD gene abnormalities were not found, we identified limb-girdle muscular dystrophy gene mutations affecting DYSF, SGCB, and FKRP.

DYSF

abnormalities


Input: In several large Utah kindreds with various genetic abnormalities of lipoprotein metabolism we determined that: 1) Lp (a) levels are associated with defects at the apoB gene; 2) Lp (a) levels are not associated with defects at the LDL-receptor gene; 3) high density lipoprotein (HDL) levels are associated with genetic variation at the apo (a) locus; and 4) the DNA sequence of the apoB-100 binding domain does not vary between siblings with high and low Lp (a) levels.

apoB gene

abnormalities


Input: Hyaluronan is an essential component of the ECM, and its amount is altered in many tumors, suggesting an important role for hyaluronan in tumorigenesis.

ECM

tumorigenesis


Input: A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities.

glucocorticoid receptor

generalized glucocorticoid resistance

glucocorticoid receptor

generalized glucocorticoid resistance


Input: To date, no data have been reported concerning the influence of PTEN/PI3K signaling pathway on EMT in human esophageal squamous cell carcinoma (ESCC) and how TGF-β1 and PTEN/PI3K act through multiple interconnected signaling pathways to trigger events associated with EMT and tumor progression.

EMT

tumor progression


Input: According to the location of significant signals, our study indicated that exon 13-15 of CNTNAP2 may play important roles in both schizophrenia and major depression in the Han Chinese population.

major depression

major depression


Input: Furthermore, identification of a role for a 5-HT (2) receptor agonist as a cognition-enhancing agent in mutant mice suggests a potential avenue to explore for the personalized treatment of cognitive symptoms in humans with reduced 5-HT synthesis and TPH2 polymorphisms.

cognitive symptoms


Input: To test the possible role of SNPs in the coding region of the IKAP gene in atopic asthma or other atopic phenotypes in a highly homogenous Czech population, a case-control study including 373 patients and 309 healthy control subjects was performed.

IKAP

atopic


Input: Furthermore, the severity of fibrosis was positively related with artemin expression and neural alterations.

artemin

fibrosis


Input: We hypothesize that resveratrol inhibits the TRIF-dependent pathway through upregulation of SARM post-RSV infection.

SARM

RSV infection

SARM

RSV infection


Input: This study was undertaken (1) to investigate the gene and protein expression of cyclooxygenase-2 (COX-2), peroxisome proliferator-activated receptor-gamma (PPARgamma), interleukin-8 (IL-8), hepatocyte growth factor (HGF), gastrin, and its receptor (CCK-2) in the Barrett' s epithelium; (2) to analyze the activity of NFkappaB in Barrett' s esophagus with low-grade dysplasia; and (3) to assess the effects of PPARgamma ligand (ciglitazone) and gastrin on cell proliferation in the cell line derived from esophageal adenocarcinoma (OE-33).

hepatocyte growth factor

Barrett' s epithelium

hepatocyte growth factor

Barrett' s epithelium


Input: & lt; i & gt; Cdk6 & lt;/i & gt;-deficient cells are sensitive to drugs that interfere with the cytoskeleton, suggesting that our findings are relevant to the treatment of patients with anemia-and may be relevant to cancer patients treated with the new generation of CDK6 inhibitors.

anemia

anemia


Input: We evaluated the association between the presence of the GSTM1-null genotype and the combined presence of the GSTM1-null genotype/NAT2 rapid acetylator phenotype and the risk of developing sporadic colorectal cancer (CRC), as well as their interaction with environmental risk factors.

sporadic


Input: Furthermore, 5-FU induced the phosphorylation of p38 mitogen-activated protein kinase (MAPK) and heat shock protein 27 (HSP27).

shock


Input: SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.

FADD

ear disease


Input: There were 41 cases of breast cancer in the MRI-screened cohort (9. 2%) and 76 cases in the comparison group (9. 2%).

MRI

breast cancer


Input: A real-time quantitative MPXV genome amplification system was developed for the diagnosis of MPXV infections using loop-mediated isothermal amplification (LAMP) technology.

LAMP

infections


Input: We analyzed 39 SNPs in ESR1 and 5 SNPs in ESR2 in a French case-control study of sporadic AD (1007 cases/647 controls).

sporadic


Input: Knockdown of placental Hif-1α mRNA by specific siRNA significantly attenuated hallmark features of preeclampsia induced by angiotensin II type I receptor agonistic autoantibody in pregnant mice, including hypertension, proteinuria, kidney damage, impaired placental vasculature, and elevated maternal circulating soluble fms-like tyrosine kinase-1 levels.

proteinuria


Input: In this work, two novel exonic BCKDK mutations, c. 520C > G/p. R174G and c. 1166T > C/p. L389P, were identified at the homozygous state in two unrelated children with persistently reduced body fluid levels of branched-chain amino acids (BCAAs), developmental delay, microcephaly, and neurobehavioral abnormalities.

BCKDK

developmental delay


Input: SKY confirmed 10 and refined the interpretation of three balanced aberrations recognized by G-banding and identified another nine balanced aberrations, including a novel translocation involving the RUNX1 gene.

SKY

translocation


Input: In this study, we identified a novel RAR & #945; fusion gene, TBLR1-RAR & #945; (GenBank KF589333), in a rare case of APL with a t (3; 17) (q26; q21), t (7; 17) (q11. 2; q21) complex chromosomal rearrangement.

APL

APL


Input: Gain and loss of function determined the impact of altering SOX2 and SOX9 on cell proliferation, senescence, stem cell activity, tumorigenesis and chemoresistance.

tumorigenesis


Input: IGH-BCL2 translocation was present in 84% and extra signals of BCL2 in 12% of patients.

translocation


Input: To examine the association between BSG SNPs and cerebral malaria, the allele and haplotype frequencies were compared in cerebral and mild malaria patients.

BSG

mild


Input: The novel fusion gene and its protein HIP1-ALK harboring epsin N-terminal homology, coiled-coil, juxtamembrane, and kinase domains, which could play a role in carcinogenesis, could become diagnostic and therapeutic target of the lung adenocarcinoma and deserve a further study in the future.

epsin

carcinogenesis


Input: Nevertheless, the role of GLP-1 R variants on body weight response after dietary intervention has not been evaluated.

body weight


Input: The study describes the stress response in the central cotyledon zone of placental tissue and in maternal whole peripheral blood to pregnancy related complications including gestational hypertension (n = 31), preeclampsia w or w/o fetal growth restriction (n = 95), and fetal growth restriction (n = 39) using real-time RT-PCR and genes encoding Hsp27, Hsp60, Hsp70, Hsp90 and HspBP1 proteins.

gestational hypertension


Input: We then used the Dual-Luciferase assay system, quantitative real-time RT-PCR (qRT-PCR), and Western blot analysis to determine that miR-218 targeted the 3'-UTR of the oncogenes CIP2A and BMI1 and thus regulated the biological process of melanoma.

UTR

melanoma


Input: Although we are still far from a global understanding of the molecular consequences of RAF translocation on mitochondrial physiology and metabolism, the recent description of some molecular interactions that are established by C-RAF in this organelle, principally with the proteins Bcl-2 and Bag-1, provides some clues.

translocation


Input: The aim of the present study was to investigate E-cadherin and beta-catenin expression in the endometrium of infertile patients with endometriosis, those with uterine fibromas, and patients with unexplained infertility.

E-cadherin

infertile


Input: We demonstrate that concurrent depletion of Mbnl1 and Mbnl3 results in a synergistic enhancement of myotonia, with an increase in muscle fibers showing low chloride currents.

myotonia


Input: To investigate cyclooxygenase-2 (COX-2) expression and its relationship with mismatch repair (MMR) protein expression and microsatellite instability (MSI) in hereditary nonpolyposis colorectal cancer (HNPCC).

MMR

microsatellite instability


Input: Two clinically distinct phenotypes may be drawn, a mild mental retardation or a more complex and severe phenotype, according to the presence or absence of the CHRNA4 and ARFGAP1 genes respectively.

mild mental retardation


Input: Patients with defective IL-12/23-IFN-gamma circuit may resemble or overlap CGD manifestations of refractory cutaneous atypical mycobacterial granuloma and salmonella pneumatocele.

IFN

granuloma


Input: The downregulation of Mcl-1 by Mith and RNAi increased pro-apoptotic protein Bax, resulting in the Bax translocation into mitochondria and its oligomerization.

translocation


Input: The antibodies inhibited cell migration through the Gq and Rho pathway in human glioma U87-MG cells.

glioma


Input: Two single nucleotide polymorphisms (SNPs) in the CNR1 (rs2023239) and FAAH (rs324420) genes, associated previously with substance abuse and functional changes in cannabinoid regulation, were examined in a sample of daily marijuana smokers.

FAAH

substance abuse


Input: Patients presenting slow growth and muscle weakness that could result from a mitochondrial impairment and mental retardation should be considered for sequence analysis of the CaM KMT gene.

CaM KMT

muscle weakness

CaM KMT

muscle weakness


Input: Specifically, increasing h-IAPP transgene expression by breeding or induction of insulin resistance leads to increased beta-cell apoptosis and diabetes.

IAPP

insulin resistance


Input: We studied the role of stress-inducible genes Heme Oxygenase-1 (HO-1), HSP27, HSP40, and HSP70 in the kidney following a 4 hour period of brain death.

brain death


Input: Almost 95% of these tumors are characterized by a nonrandom chromosomal abnormality, t (X; 18) (p11. 2; q11. 2), that is observed in both biphasic and monophasic variants.

chromosomal abnormality


Input: These results indicate that numerous Sp1 cis-acting sequences of the UGDH core promoter are responsible for up-and down-regulation of the gene after TGF-beta stimulation and in hypoxic conditions, respectively.

TGF-beta

hypoxic


Input: Screening for germline MLH1, MSH2, MSH6, and PMS2 mutations was performed for all incident CRC cases recruited from cancer registries (population based probands) displaying microsatellite instability (MSI) or loss of expression of MMR genes by immunohistochemistry (IHC) and probands with CRC in multi-case families recruited from clinics (clinic based probands), regardless of MSI or IHC status.

MMR

microsatellite instability


Input: Here, we show that PHF1 is recombined with a novel fusion partner, MEAF6 from 1p34, in an ESS carrying a t (1; 6) (p34; p21) translocation as the sole karyotypic anomaly.

translocation


Input: Statistical analyses revealed that BChE-K carriers showed significantly less severe aberrant motor behavioral symptoms and that ε4 non-carriers showed less severe anxiety and indifference symptoms.

BChE

indifference


Input: Nude and severe combined immunodeficient mice were implanted with human pancreatic cancer and/or melanoma cells and the effects of C10 on tumor growth were evaluated.

pancreatic cancer


Input: TSSC3 was expressed at a low level in T-ICs, while overexpression of TSSC3 could efficiently downregulate the expression of stem cell markers Nanog, Oct4 and Sox2 in T-ICs and decrease the clone formation rate, as well as downregulate tumorigenesis in MThFOB1. 19 cells, supporting a suppressive role for TSSC3 in OS T-ICs.

tumorigenesis


Input: Renal and pancreatic calcification during treatment of infantile spasms with ACTH.

ACTH

calcification

ACTH

calcification


Input: Albuminuria or microalbuminuria (albuminuria > or = 15 microg/min) showed no association with eNOS polymorphisms either per se or after accounting for the co-existing ACE I/D genetic configuration.

ACE

microalbuminuria


Input: To explore the role of EGR1 in prostate tumorigenesis, we examined the impact of EGR1 expression on the androgen receptor (AR) signaling pathway.

tumorigenesis


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).

dermatitis

dermatitis


Input: Anti-TSLP immunohistochemical staining showed preferential expression in the epithelial cells and some infiltrated cells of the giant papillae, but not in the control conjunctivae.

TSLP

giant


Input: We examined the differential gene expressions of PDGF-A,-B,-C,-D, PDGF receptor alpha (PDGFR-alpha), and receptor beta (PDGFR-beta) between uterine leiomyomata and the adjacent normal myometrium.

PDGF-A

uterine leiomyomata


Input: To investigate the association between genetic variants of ARLTS1 and the clinical-pathological characteristics of familial OC, we identified a significantly higher proportion of serous adenocarcinoma (55/67, 82. 1%) and higher rates of advanced stage tumors (88. 1% vs 55. 6%; P = 0. 004) in ARLTS1 Cys148Arg carriers.

serous adenocarcinoma


Input: In situ hybridization with 35S-labelled riboprobes showed a pronounced expression of VEGF mRNA in acutely hypoxic proximal and distal tubules of both the cortex and medulla; VEGF protein was demonstrated in the epithelia of these tubules by immunohistochemistry.

VEGF

hypoxic


Input: Moreover, putative high responder HLA-DR1, DR3 and DR4 alleles were significantly (p < 0. 001) more frequent in pre-eclampsia patients (79%) than in controls (59%).

pre-eclampsia


Input: We genotyped GSTA2_448_C > G (rs2180314), GSTA2_742_A > C (rs6577), GSTM2_-832_T > C (rs638820), GSTO1_-1242_G > A (rs2164624), GSTO1_419_A > C (rs4925), GSTO2_-183_A > G (rs2297235), GSTO2_342_A > G (rs156697), GSTZ1_-4378_A > G (rs1046428), and GSTZ1_94_G > A (rs3177427) by MALDI-TOF MS in the German GENICA breast cancer case-control collection of 1021 cases and 1015 controls and performed breast cancer risk association in general and with respect to the stratifications: menopausal status, family history of breast or ovarian cancer, use of oral contraceptives, use of hormone therapy, body mass index, and smoking as well as histopathological tumor characteristics including hormone receptor status, grade, histology, and node status.

smoking


Input: We studied the mechanisms of innate immunity to oncolytic adenovirus Ad5/3-Delta24 in conventional treatment resistant non-CIC breast cancer cells, breast cancer CD44 (+)/CD24 (-/low) CIC population and normal breast tissue CD44 (+)/CD24 (-/low) stem cells.

adenovirus


Input: Methylation of the NORE1A promoter was not observed in primary tumors and only one out of seven neuroblastoma cell lines displayed weak partial methylation.

neuroblastoma

neuroblastoma


Input: To further define the function of Daxx, we have isolated its interacting proteins in the nucleus using epitope-tagged affinity purification and identified X-linked mental retardation and alpha-thalassaemia syndrome protein (ATRX), a putative member of the SNF2 family of ATP-dependent chromatin remodeling proteins that is mutated in several X-linked mental retardation disorders.

thalassaemia syndrome


Input: Human serum specimens from previously confirmed DENV infections showed significantly enhanced positive-to-negative (P/N) ratios for NS1-MAC/GAC-ELISAs after the depletion of anti-prM/E antibodies.

MAC

infections


Input: These results strongly implicate the cMOAT gene as responsible for the defects in DJS patients.

cMOAT

DJS

cMOAT

DJS


Input: RT-PCR and Western blot were used to detect the expressions of SUMO-1 in HCC cell lines, clinical HCC samples, and the non-neoplastic liver tissues adjacent to HCC.

HCC

non-neoplastic


Input: Based on these findings, we conclude that in addition to the previously reported role of F11R in the initiation of plaque formation, F11R plays also an important role in the subsequent growth of atherosclerotic plaques.

plaque


Input: Clinical characteristics of SUR were: history of atopy; transient, mono or oligoarticular synovitis and widespread, longlasting pain.

SUR

pain


Input: Importantly, Act1 deficiency in epithelial cells reduced the phenotype of allergic pulmonary inflammation due to loss of IL-17-induced neutrophilia and IL-25-induced eosinophilia, respectively.

neutrophilia


Input: As a sensor of proteinases, proteinase activated receptor 2 (PAR2) plays critical roles in tumorigenesis.

tumorigenesis


Input: Our objective was to confirm the occurrence of microsatellite instability (MSI) in insulinomas, to identify alterations of mismatch repair (MMR) genes in the tumors, and to evaluate the possibility to distinguish benign and malignant insulinoma or to predict the clinical outcome of patients with these alterations.

MMR

microsatellite instability


Input: PAPP-A is present in unstable plaques, and circulating levels are elevated in acute coronary syndromes; these increased levels may reflect the instability of atherosclerotic plaques.

PAPP-A

acute coronary syndromes

PAPP-A

acute coronary syndromes


Input: Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion.

adenocarcinomas

adenocarcinomas


Input: In kidney, the ubiquitin carboxy-terminal hydrolase 1 (UCH-L1) is involved in podocyte injury and proteinuria but details of the mechanism underlying its regulation are not known.

proteinuria


Input: Overexpression of p53 was observed only in the ameloblastic carcinoma.

ameloblastic carcinoma


Input: Two single nucleotide polymorphisms (SNPs), Ser311Cys and TaqIA, within the DRD2 gene were genotyped by allelic discrimination PCR in subjects who had provided evidence of linkage to diabetes and obesity in an autosome-wide scan.

DRD2 gene

diabetes


Input: MMPs play a critical role in the process of stromal invasion and metastasis, and these findings suggest that the association between increased Sod2 and poor prognosis in certain cancers may be attributed to elevated MMP production.

metastasis

metastasis


Input: Additionally, loss of S100A2 attenuates the transcription of TGF-β/Smad3 target genes involved in tumor promotion, such as PA1-1 and vimentin.

tumor promotion


Input: We have reported elsewhere nine point mutations in the IVD gene in fibroblasts of patients with IVA, which lead to abnormalities in IVD protein processing and activity.

IVD

abnormalities


Input: The RT-PCR and the HRP2 RDT detected most cases of malaria during pregnancy, whereas microscopy, the Plasmodium lactate dehydrogenase RDT, and enzyme-linked immunosorbent assays for dihydrofolate reductase-thymidylate synthase and heme-detoxification protein antibodies did not detect several low-density infections.

thymidylate synthase

infections


Input: Natural mutations in the human glucocorticoid receptor (hGR, NR3C1) gene cause Chrousos syndrome, a rare condition characterized by generalized, partial, target-tissue insensitivity to glucocorticoids.

Chrousos syndrome

Chrousos syndrome


Input: The effect of clozapine on CLC-4 expression was examined in neuroblastoma (SH-SY5Y) and glioma (U87) cells.

glioma


Input: In blood samples obtained, we analyzed mutations in mismatch repair (MMR) genes, as well as protein expression by immunohistochemistry and microsatellite instability (MSI) in tumour tissue.

MMR

microsatellite instability


Input: We found that v6v expression with special direct link of exons 10 (v6) and 14 (v10) was highly expressed in PBMC from patients with HAM/TSP and that v6v and CD4 double positive T-cell infiltration into the spinal cord lesion of HAM/TSP.

TSP

spinal cord lesion


Input: These cases can either be explained by germline mosaicism or by asymptomatic carrier mothers with skewing of X-inactivation towards the wild-type MECP2 allele.

asymptomatic


Input: The results suggest that the E. coli infection induces intestine P-gp expression, altering the absorption of orally administered enrofloxacin in broilers.

P-gp

E. coli infection

P-gp

E. coli infection


Input: Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.

Prodynorphin

spinocerebellar ataxia type 23

Prodynorphin

spinocerebellar ataxia type 23


Input: CD4/CD8 double negative mycosis fungoides with PD-1 (CD279) expression--a disease of follicular helper T-cells?

mycosis fungoides


Input: The genes selected for methylation analysis covered a wide range cellular processes including cell cycle control (p16), apoptosis (DAPK and RASSF1A), Wnt signaling (APC, WIF1 and RUNX3), cell-cell adhesion (E-cad), and DNA repair (MGMT and hMLH1).

cad


Input: FUT6 (rs3760776) AA genotype was present in four (4. 8%) autoimmune gastritis patients (all pernicious anaemia) and three (1. 7%) controls (p = 0. 007).

autoimmune gastritis


Input: We now report that the chromatin-targeting E3 ubiquitin ligase RNF20/RNF40, driving histone H2B monoubiquitylation (H2Bub1), modulates inflammation and inflammation-associated cancer in mice and humans.

inflammation


Input: Double labelling with alpha-CD3 and adhesion/activation markers revealed T cell subsets expressing CD49a, CD49b, CD54, and CD15, some of which were almost absent in autologous T peripheral blood lymphocytes (T-PBL).

adhesion


Input: Reciprocal t (16; 21) (p11; q22) is a rare chromosomal abnormality in acute myeloid leukemia (AML).

chromosomal abnormality


Input: In this study, we inoculated two forms of atypical BSE (BASE and H-type BSE), a chronic wasting disease (CWD) isolate and seven isolates of atypical scrapie into gene-targeted transgenic (Tg) mice expressing the human prion protein (PrP).

BASE

chronic wasting disease


Input: Association between Polymorphism of Exportin-5 and Susceptibility to Lead Poisoning in a Chinese Population.

Lead Poisoning

Lead Poisoning


Input: Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.

liver cancer

liver cancer


Input: Because basal endoglin transcription is sustained by Sp1, and TGF-beta and hypoxia signaling pathways are mediated by Smad proteins and hypoxia-inducible factor-1 (HIF-1), respectively, the involvement of these transcription factors was analyzed.

TGF-beta

hypoxia


Input: Hsp60 levels correlated significantly with viral load, CD4 counts, and circulating soluble CD14 and lipopolysaccharide levels.

viral load


Input: When dermal and synovial fibroblasts were stimulated identically by hypoxia and cytokines (TGF-beta and IL-1), synovial fibroblasts secreted four times more VEGF than did dermal fibroblasts.

VEGF

hypoxia


Input: Recently, circulating microRNAs (miRNAs) such as miR-122 and miR-192 have emerged as promising biomarkers of liver injury in preclinical species and in DILI patients.

DILI

DILI


Input: In the autistic group, increased TBARS levels (p & lt; 0. 001) and XO (p & lt; 0. 001) and SOD (p & lt; 0. 001) activity, decreased CAT (p & lt; 0. 001) activity and unchanged ADA activity were detected.

CAT

autistic

CAT

autistic


Input: To determine the association of Nramp1/Slc11a1 with tuberculosis and leprosy, we analyzed using polymerase chain reaction restriction fragment length polymorphisms three variants (D543N, 3' UTR and INT4) of Nramp1/Slc11a1 gene in 58 tuberculosis patients (mean age, 34. 0 +/-13. 1), 42 leprosy patients (mean age, 35. 0 +/-14. 3) and 198 healthy controls (mean age, 32. 0 +/-12. 9) from South Sulawesi, Indonesia.

leprosy


Input: No significant correlations were found between disease duration, erythrocyte sedimentation rate, and C-reactive protein values with either OPG or RANK-L serum levels.

OPG

erythrocyte sedimentation rate


Input: We have evidence that 12-LOX increases the protein level, mRNA, and functional activity of HIF-1alpha under hypoxic conditions, one of the mechanisms by which it upregulates VEGF secretion and activity.

VEGF

hypoxic


Input: These results strongly suggest that the S89N polymorphism in the UTS2 gene is associated with the development of Type 2 diabetes, via insulin sensitivity, in Japanese subjects.

UTS2 gene

insulin sensitivity


Input: Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7.

SRS

SRS


Input: After intervention with MFN2 expressing adenovirus for 3 wk, the expression of MFN2 mRNA and protein levels were up-regulated (P < 0. 01).

adenovirus


Input: We also detected decreased EAAT3 transcript expression in schizophrenia and decreased EAAT4 transcript expression in major depressive disorder.

major depressive disorder

major depressive disorder


Input: PAR1-type thrombin receptor stimulates migration and matrix adhesion of human colon carcinoma cells by a PKCepsilon-dependent mechanism.

thrombin receptor

adhesion


Input: Brain-derived neurotrophic factor/tyrosine kinase B signaling regulates human trophoblast growth in an in vivo animal model of ectopic pregnancy.

Brain-derived neurotrophic factor

ectopic pregnancy


Input: HOXD10, HOXD11, HOXD13, CCL8 and LIM homeobox 2 were highly and exclusively expressed in RA and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA.

OA

OA


Input: The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (rs2287161) associate with depressive disorder, those of RORB (rs7022435, rs3750420, rs1157358, rs3903529) and NR1D1 (rs2314339) with bipolar disorder, and those of NPAS2 (rs11541353) and CRY2 (rs10838524) with seasonal affective disorder or winter depression.

bipolar disorder

bipolar disorder


Input: With regard to the molecular mechanisms underlying drug addiction, Cav1. 3 channels are necessary for the development and Cav1. 2 channels for the expression of cocaine and amphetamine behavioural sensitisation.

Cav1. 3

drug addiction


Input: Loss of such control in response to estrogen-induced DNA damage after BRCA1 inactivation may be a key initial event that triggers genome instability and carcinogenesis.

genome instability


Input: We therefore studied the expression of UPA, UPAR, IGF2R, ALK5 (TGFBR1), TGFBR2, TGFBR3, ENG, ALK1, TGFB1, TGFB2, and TGFB3 in a series of 14 pancreatic carcinoma cell lines.

pancreatic carcinoma


Input: In this report, novel mutations are described in three subjects with HFM: A335D/N68Kfs (c. 1004C & gt; A/c. 204-205delCC), compound heterozygous mutations, and two homozygous PCFT mutations, G338R (c. 1012G & gt; C) and E9Gfs (c. 17-18insC).

PCFT

HFM

PCFT

HFM


Input: To test the role of SAA and APCS in MEF and MEF-amyloidosis, we studied 17 informative families (15 Armenians, 2 non-Ashkenazi Jews) and 8 MEF patients with amyloidosis using a candidate gene approach.

MEF

amyloidosis


Input: The TGF-β/ALK1/ENG signaling pathway plays a key role in iPAH and experimental hypoxic PH via a direct effect on PECs leading to production of growth factors and inflammatory cytokines involved in the pathogenesis of PAH.

TGF-β

hypoxic


Input: Quantitative reverse-transcription polymerase chain reaction analysis also showed that c-Maf was overexpressed in 8/31 cases of AILT, 0/19 cases of PTCL (U), 0/11 cases of anaplastic large cell lymphoma, 0/10 cases of extranodal NK/T-cell lymphoma, nasal type, and 2/8 cases of multiple myeloma, presenting significant difference between AILT and PTCL (U) (P = 0. 016, chi test).

c-Maf

large cell lymphoma


Input: Our results support the notion that particular features of the c-Myc locus select it as a preferential translocation/amplification target, compared to the endogenous N-myc locus, in Lig4/p53-deficient pro-B cell lymphomas.

N-myc

translocation


Input: Multiple linear regression analysis after adjustment for age, BMI, and smoking revealed that a positive relationship between the amount of drinking and MCV but inverse relationships for drinking and red cell count, as well as hemoglobin and hematocrit values, were significantly stronger for men with ALDH2 * 1/2 * 2 than for those with ALDH2 * 1/2 * 1, demonstrating a gene-environment interaction.

smoking


Input: To further define CYP26A1 induction mechanisms in the NB4 leukemia cells, we used RARs and RXR selective agonists.

leukemia


Input: A mutation of the p63 gene in non-syndromic cleft lip.

cleft lip

cleft lip


Input: Logistic regression analysis including DRD2 genotype, FTND score, age at smoking initiation, marital status, and education as predictors showed that maximum duration of quit time was associated with FTND score (p =. 003), DRD2 genotype (p =. 01), marital status (p =. 03), and age at smoking initiation (p =. 04).

smoking


Input: We demonstrate that these mutations impair the integrity and activity of this complex and that they impair cell proliferation, providing likely molecular and cellular mechanisms by which POP1 mutations cause this severe skeletal dysplasia.

skeletal dysplasia


Input: The above data indicate that the absence of the GSTM1 gene is associated with a greater risk of sporadic colorectal cancer.

GSTM1 gene

sporadic


Input: In the present study, inhibition of Rac2 by genetic deletion or a small-molecule inhibitor and down-regulation of mitochondrial ROS by disruption of MRC-cIII, expression of mitochondria-targeted catalase, or addition of ROS-scavenging mitochondria-targeted peptide aptamer reduced genomic instability.

MRC

genomic instability


Input: However, the mechanisms underlying the regulation of VEGF expression remain virtually unknown and the only major regulator of VEGF expression has been reported to be hypoxia.

VEGF

hypoxia


Input: However, several studies involving rodent models and human prostate cell lines and specimens have supported the contribution of the canonical PRLR-Jak2-Stat5a/b pathway to prostate cancer tumorigenesis and progression.

PRLR

tumorigenesis


Input: Potential genotype/phenotype correlations were examined by classifying the patients into three groups according to the CYP21 allelic combinations: A (mild/mild), B (mild/severe), and C (severe/severe).

mild


Input: This may suggest a different disease mechanism with more prominent axonal degeneration in these two types of HSP when compared with HSP due to spastin and atlastin mutations.

atlastin

axonal degeneration


Input: Patients with RAI1 mutation were more likely to exhibit overeating, obesity, polyembolokoilamania, self-hugging, muscle cramping, and dry skin and less likely to have short stature, hearing loss, frequent ear infections, and heart defects when compared with patients with deletion, while a subset of small deletion cases with deletions spanning from TNFRSF13B to MFAP4 was less likely to exhibit brachycephaly, dental anomalies, iris abnormalities, head-banging, and hyperactivity.

head-banging


Input: The deleted in colorectal cancer (DCC) gene, a candidate tumor suppressor gene on chromosome 18q21, encodes a neural cell adhesion molecule family protein that is most highly expressed in the nervous system.

neural cell adhesion molecule

nervous system


Input: Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher disease


Input: Pretreatment of cells with progesterone receptor-encoding adenovirus and progestin inhibited the development of s. c. tumors in athymic mice.

progesterone receptor

adenovirus


Input: Both cell lines were stimulated with Angiotensin II and Angiotensin II receptor type 1 (At (1) R) blocker Candesartan, and gene expression of vascular endothelial growth factor (VEGF), Angiopoietin 1 and 2 (Ang-1 and Ang-2), tissue inhibitor of matrix metalloproteinases 1 (TIMP-1), and hypoxia inducible transcription factor 2alpha (HIF-2alpha) were quantified by TaqMan-Real-Time PCR analysis.

VEGF

hypoxia


Input: A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome.

Fas ligand

autoimmune lymphoproliferative syndrome

Fas ligand

autoimmune lymphoproliferative syndrome


Input: The gene encoding beta2-AR (ADRB2) displays a moderate degree of heterogeneity in the human population and the distributions of single-nucleotide polymorphisms (SNPs) at amino acid positions 16, 27, and 164 are changed in asthma, obesity, and hypertension and in the autoimmune disease myasthenia gravis.

autoimmune disease


Input: Our results suggest that FUS mutations are the most frequent genetic cause in early-onset sporadic ALS patients of Chinese origin.

FUS

sporadic


Input: We hypothesized that expression of the EAATs and the EAAT regulating proteins ARHGEF11, JWA, G-protein suppressor pathway 1 (GPS1), and KIAA0302 are altered in the brain in schizophrenia.

schizophrenia

schizophrenia


Input: LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

Cenani-Lenz syndrome

Cenani-Lenz syndrome


Input: Immunohistochemical studies of postmortem brain sections revealed decreased staining by MBP-and TAL-specific antibodies in MS plaques, indicating a concurrent loss of these antigens from demyelination sites.

TAL

demyelination


Input: Mfn2 protein over-expression, mediated by an adenovirus, has a significant anti-tumour effect in A548 and HT-29 cells.

adenovirus


Input: A mutant SKI defective in transformation fails to increase p53 ubiquitination and is unable to increase MDM2 levels and to increase mono-sumoylation of Ubc9, suggesting that the ability of SKI to enhance Ubc9 activity is essential for its transforming function.

mono


Input: Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

WASP

Wiskott-Aldrich syndrome

WASP

Wiskott-Aldrich syndrome


Input: As a conclusion, CacyBP/SIP may play a role in cardiomyogenic differentiation and possibly protection of cardiomyocytes during hypoxia/reoxygenation injury.

SIP

hypoxia


Input: Comparison of REA patterns with ribotyping for 18 S. typhi isolates involved in sporadic cases of infection showed a good correlation, in that 72% of the isolates were in the same group.

REA

sporadic


Input: In this study, we investigated the role of NGAL in the tumorigenesis and progression of CRC and evaluated the clinical value of NGAL expression.

NGAL

tumorigenesis


Input: Furthermore, we did not observe any statistically significant interactions between GST copy number variation and exposure to indoor sources of PM in relation to respiratory symptoms and markers.

GST

respiratory symptoms


Input: Polymerase chain reaction analyses of DNA isolated from several endometrial carcinomas were negative for (14; 18) translocation involving the bcl-2 gene.

bcl-2 gene

translocation


Input: Angiogenesis in pancreatic ductal adenocarcinomas depends on the presence of angiogenic factors such as vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) and is thought to be stimulated by hypoxia.

VEGF

hypoxia


Input: Furthermore, prospective studies carried out with patients that underwent biliopancreatic diversion surgery showed that subjects with high levels of GLP-1R expression in AT, which indicates a deficit of GLP-1 in this tissue, were those whose insulin sensitivity improved after surgery, suggesting the potential relationship between AT GLP-1R and insulin sensitivity amelioration in obese subjects.

insulin sensitivity


Input: Osteopetrosis is an inherited disorder of impaired bone resorption, with the most commonly affected genes being CLCN7 and TCIRG1, encoding the Cl (-)/H (+) exchanger CLC-7 and the a3 subunit of the vacuolar H (+)-ATPase, respectively.

bone resorption


Input: Darier disease (DD) (MIM 124200) is an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and by abnormal keratinization.

MIM

adhesion


Input: Patients with genotype C and GSTM1 deficiency contracted carcinoma after fewer cigarettes than those with other genotypes.

carcinoma


Input: Here, we analyzed eight probands with clinically suspected WS by whole-exome sequencing and identified three mutations: a 25. 4-kb deletion partially involving EZH2 and CUL1 (individual 1), a missense mutation (c. 707G & gt; C, p. Arg236Thr) in EED (individual 2), and a missense mutation (c. 1829A & gt; T, p. Glu610Val) in SUZ12 (suppressor of zeste 12 homolog) (individual 3) inherited from her father (individual 4) with a mosaic mutation.

WS

WS


Input: However, low-frequency alterations such as EIF4G1 might participate in MEN2A-associated tumorigenesis, possibly by regulating the activity of the RET pathway.

tumorigenesis


Input: Here we review recent advances in the role of ABCA1 and ABCG1 in HDL metabolism, macrophage cholesterol efflux, inflammation, and atherogenesis.

atherogenesis


Input: Real-time imaging with the use of biophotonic transactive response DNA-binding protein 43 transgenic mice carrying a glial fibrillary acidic protein-luciferase reporter revealed that the behavioural defects were preceded by induction of astrogliosis, a finding consistent with a role for reactive astrocytes in amyotrophic lateral sclerosis pathogenesis.

DNA-binding protein

amyotrophic lateral sclerosis


Input: Thus, osteoclast formation may be determined principally by the relative ratio of OPG-L/ODF to OPG/OCIF in the bone marrow microenvironment, and alterations in this ratio may be a major cause of bone loss in many metabolic disorders, including estrogen deficiency and glucocorticoid excess.

ODF

metabolic disorders


Input: The therapeutic potential of beta2-adrenergic receptor (AR) agonists in the treatment of autoimmune diseases has been reported.

autoimmune diseases


Input: We found that this approach reduced weight gain and improved lipid profiles in the AAVS1-mice on high-fat diet challenge.

weight gain


Input: Herein, we have tested the association of single nucleotide polymorphisms (SNPs) at TNF, IL10, MIF, DCSIGN, CLEC5A, NOD2, CCR5 and MRC1 as candidate genes using a matched case-control study design including 88 severe children cases of dengue patients and 335 healthy unrelated subjects that was also separated in IgG (+) and IgG (-) controls.

MIF

dengue


Input: In this study, we examined the NF-kappaB binding activity and the expression of the signal-transduction-related proteins of NF-kappaB in head and neck carcinoma cell lines.

NF-kappaB

head and neck carcinoma


Input: Real-time reverse transcription polymerase chain reaction, in accordance with the microarray analysis, indicated that PEDF treatment caused an upregulation in the mRNA expression level of stanniocalcin 2, brain-specific angiogenesis inhibitor 2 and growth arrest, DNA-damage-inducible, alpha, and downregulation in the messenger ribonucleic acid level of fibroblast growth factor 3, teratocarcinoma-derived growth factor, neuropilin1, and endothelial Per/ARNT/Sim domain protein1, respectively.

brain-specific angiogenesis inhibitor 2

teratocarcinoma


Input: We tested the hypothesis that calstabins mutations may cause dilated cardiomyopathy in humans screening 186 patients with idiopathic dilated cardiomyopathy for genetic alterations in calstabins 1 and 2 genes (FKBP12 and FKBP12. 6).

FKBP12. 6

idiopathic dilated cardiomyopathy


Input: Several previous studies have demonstrated that the CDX2-negative (CDX2) and/or CK20-negative (CK20) phenotypes of colorectal cancers (CRCs) might be associated with high levels of microsatellite instability (MSI-H).

microsatellite instability


Input: Moreover, hypoxia triggered a significant decrease of Notch 1 and Notch 2 mRNA and protein expression, with subsequent downregulation of Notch-mediated signaling, as shown by reduced levels of the Notch target genes, Hes1 and Hey1.

hypoxia


Input: Cyclooxygenase 2 (Cox2), a regulator of inflammation signaling, has been found to be involved in tumorigenesis of various tumor types.

tumorigenesis


Input: We investigated the effect of inhibition of 11beta-HSD with glycyrrhetinic acid (GE), an effective 11beta-HSD inhibitor, on body weight regulation in obese Zucker rats, which have a defect in the leptin receptor gene.

leptin receptor gene

body weight


Input: These studies indicate that SIRT1 serves as a negative regulator of UPR signaling in T2DM and that SIRT1 attenuates hepatic steatosis, ameliorates insulin resistance, and restores glucose homeostasis, largely through the inhibition of mTORC1 and ER stress.

hepatic steatosis

hepatic steatosis


Input: Among all candidate substrates, DPP4 displays highest affinity for NPY, an endogenous anxiolytic neurotransmitter that is suggested as a candidate biomarker in post-traumatic stress disorder (PTSD) and depression.

depression

depression


Input: The above results suggest that the overexpression of DNMT1 in the BLA is responsible for the etiology of anxiety associated with BPA exposure via GABAergic disinhibition.

anxiety

anxiety


Input: Here the EGFR tyrosine kinase inhibitor PKI166 and EGFR blocking antibody C225, both of which are used clinically to treat head and neck cancers, were used to determine the effects of EGFR inhibition on intercellular junction assembly and adhesion in oral squamous cell carcinoma cells.

EGFR

adhesion


Input: The results of increased H1R and H2R expression in complicated sigmoid diverticulitis were also detected on mRNA level in a subset of patients (RT-PCR, p = 0. 009).

diverticulitis


Input: Five distinct partners of IGlambda translocation were identified by SKY analysis: 3q27 in three patients, and 1p13, 6p25, 17p11. 2 and 17q21 in one patient each.

SKY

translocation


Input: We conclude that the gene encoding CAV-1 plays an important role in the promotion of mammary tumorigenesis in Kashmir.

CAV

mammary tumorigenesis


Input: In this study, we found that hsa-miR491-5p (miR491-5p) displays a significantly high level of expression in normal human pancreas tissue versus pancreatic cancer cells.

pancreatic cancer


Input: The RaSH approach identified differential expression of Annexin A1 (ANXA1), p16, RPL6, PBEF1 and KIAA1033 in high-risk HPV positive penile carcinoma; ANXA1 and p16 were overexpressed in penile squamous cells positive for high-risk HPVs compared to normal penile samples by qPCR.

penile carcinoma


Input: Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

Dysferlin

Miyoshi myopathy

Dysferlin

Miyoshi myopathy


Input: Conditional ablation of Supv3L1 in keratinocytes confirmed atrophic changes in the skin and ichthyosis-like changes.

ichthyosis

ichthyosis


Input: The molecular structure of exon 7 of the ATP7B gene from 141 WD patients was analyzed.

WD

WD


Input: LD mapping showed nominally significant association in NTRK3, FLJ12484, RHCG, DKFZp547K1113, VPS33B, SV2B, SLCO3A1, RGMA, and MCTP2 with MDD-RE.

MDD-RE

MDD-RE


Input: MUC1 is a counter-receptor for myelin-associated glycoprotein (Siglec-4a) and their interaction contributes to adhesion in pancreatic cancer perineural invasion.

adhesion


Input: We previously demonstrated that a mutation in the 5' untranslated region of Diaphanous homolog 3 (DIAPH3) results in 2 to 3-fold overexpression of the gene, leading to a form of delayed onset, progressive human deafness known as AUNA1 (auditory neuropathy, nonsyndromic, autosomal dominant, 1).

deafness


Input: We hypothesised that this increase in motility displayed by the hK4 and PSA-expressing PC-3 cells may be related to the observed change in structure in these cells from a typical rounded epithelial-like cell to a spindle-shaped, more mesenchymal-like cell, with compromised adhesion to the culture surface.

adhesion


Input: Mutations in MRAP, an interacting partner of the ACTH receptor, have been shown recently to cause familial glucocorticoid deficiency (FGD) in kindreds with confirmed FGD and no ACTH receptor mutations.

MRAP

familial glucocorticoid deficiency


Input: p38 activation by both adenovirus-mediated gene delivery of constitutively active p38 activator MKK6 and by arsenite selectively induces cell death in K-ras-activated human colon cancer HCT116 cells but not in the K-ras-disrupted HCT116-derived sublines.

adenovirus


Input: The aim of this study was to determine the CDKN1B V109G polymorphism frequency in the low incidence Taiwanese population and investigate its potential role on prostate cancer susceptibility and disease progression.

prostate cancer susceptibility


Input: A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.

patent foramen ovale

patent foramen ovale


Input: One copy of the gene for p27kip1 (KIP1), involved in cell cycle entrance, was found to be lost in all cases in which deletions could be detected by other probes and in one case with a translocation as the only detectable change.

translocation


Input: All mutations identified were heterozygous amino acid substitutions or small in-frame deletion mutations with the exception of an unusual mutation in a sporadic case of PC-1.

sporadic


Input: Forty-six months later the patient suffered a blast crisis characterized by absolute basophilia; the cytogenetic study demonstrated 48, XY, + 8, t (9; 22) (q34; q11), + der (22) t (9; 22) (q34; q11), + i (17) (q10) in 18% of the mitoses, 46, XY, t (9; 22) (q34; q11) in 34% and hyperdiploidy in 23%.

blast crisis


Input: Using the yeast two-hybrid system with fragments of human BRCA2, we identified an interaction with the human DSS1 (deleted in split hand/split foot) gene.

split foot


Input: In the villi with characteristic hypoxic/ischemic changes (HIC), including increased syncytial knots, infarction, or hypercapillarization, intense immunostaining for VEGF was detected in the media of blood vessels, and increased staining for KDR was demonstrated in the endothelial cells.

VEGF

infarction


Input: New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

neural cell-adhesion molecule L1

MASA syndrome

neural cell-adhesion molecule L1

MASA syndrome


Input: A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR-125b-2, let-7c and miR-99a.

down syndrome

down syndrome


Input: Survival as it relates to p16 overexpression and MIB-1 (Ki-67) proliferation in primary squamous cell vaginal carcinoma was studied.

vaginal carcinoma


Input: In all xenografts, disruption of VEGF led to marked expansion of the hypoxic compartments and growth delay.

VEGF

hypoxic


Input: In KSHV-infected effusion lymphoma lines, K10. 5/vIRF3 and K11/vIRF2 mRNAs are readily detected during latency, whereas K9/vIRF1 and K10/vIRF4 mRNAs are upregulated during reactivation.

lymphoma


Input: The genetic complexity of HVR1, together with viral load and the anti-HCV IgM titer, are independent predictors of a sustained virological response to IFN alfa in patients with chronic hepatitis.

viral load


Input: Multivariate regression modelling was applied to assess the association of T4 dosing with polymorphisms in UGT1A1 (rs8175347), UGT1A3 (rs3806596 and rs1983023), DIO1 (rs11206244 and rs2235544) and DIO2 (rs225014 and rs12885300), demographic and clinical variables.

regression


Input: Homozygous PVRL1 loss-of-function mutations result in an autosomal recessive CL/P syndrome, CLPED1, and a PVRL1 nonsense mutation is associated with sporadic nsCL/P in Northern Venezuela.

sporadic


Input: A novel human multiple myeloma-derived cell line, NCU-MM-1, carrying t (2; 11) (q11; q23) and t (8; 22) (q24; q11) chromosomal translocations with overexpression of c-Myc protein.

multiple myeloma


Input: The involvement of these cells in cCSNB and the specific function of GPR179 remain to be elucidated.

CSNB

CSNB


Input: Smith-Lemli-Opitz syndrome (MIM 270400) is an autosomal recessive malformation and mental retardation syndrome that ranges in clinical severity from minimal dysmorphism and mild mental retardation to severe congenital anomalies and intrauterine death.

MIM

mild mental retardation


Input: MEL exposure modulated the mitotic and apoptotic indices in the colonic adenocarcinomas that developed and lowered the immunohistochemical expression of nuclear factor kappa B, tumor necrosis factor alpha, interleukin-1beta and STAT3 in the epithelial malignancies.

adenocarcinomas

adenocarcinomas


Input: These results indicate an essential role for iPLA2 in cell cycle progression and tumorigenesis of ovarian carcinoma cells.

tumorigenesis


Input: This study investigated genes involved in the regulation of neuroplasticity (BDNF, ST8SIA2), second messenger cascades (GSK3B, MAPK1, and CREB1), circadian rhythms (RORA), transcription (SP4, ZNF804A), and monoaminergic system (HTR2A and COMT) in the risk of neurological, psychic, autonomic, and other ADRs.

RORA

circadian rhythms


Input: Nine of 50 MS patients became hypomanic or manic during treatment with ACTH or prednisone.

ACTH

MS

ACTH

MS


Input: To determine whether endogenous IL-15 is involved in activation of i-IEL during intestinal infection, we examined IL-15 synthesis by intestinal epithelial cells (i-EC) after infection with Listeria monocytogenes in rats.

intestinal infection


Input: Astemizole in the treatment of granulocyte colony-stimulating factor-induced bone pain.

granulocyte colony-stimulating factor

pain

granulocyte colony-stimulating factor

pain


Input: Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia


Input: Genes for sonic hedgehog (SHH), TNF-receptor-associated-factor 3 (TRAF3), rhoGTP-ase-activating protein 4 (ARHGAP4), deleted in colorectal carcinoma (DCC), cadherins 12 and 13 (CDH12 and 13), teratocarcinoma-derived growth-factor-1 (TDGF1), and transforming growth-factor-beta1 (TGFB1) were underexpressed in all tumors.

SHH

teratocarcinoma


Input: This study investigated the efficacy and safety of vorinostat, a deacetylase (HDAC) inhibitor, in the treatment of laser-induced corneal haze following photorefractive keratectomy (PRK) in rabbits in vivo and transforming growth factor beta 1 (TGFβ1)-induced corneal fibrosis in vitro.

PRK

corneal haze


Input: Although a number of significant associations were determined in both the total group and in the nevirapine (NVP) exposed group, the most significant findings involved KIR2DL2 and KIR2DL3 and HLA-C. KIR2DL2/KIR2DL3 was underrepresented in intrapartum (IP)-transmitting mothers compared to non-transmitting (NT) mothers (P = 0. 008) and remained significant (P = 0. 036) after correction for maternal viral load (MVL).

viral load


Input: Clinical trials are revealing aspects of HPP pathophysiology not yet fully understood, such as craniosynostosis and muscle weakness when HPP is severe.

HPP

craniosynostosis


Input: In this study, we aimed to explore the impact of DNA methylation profile in BCL2/E1B adenovirus interacting protein 3 (BNIP3), extracellular superoxide dismutase (EC-SOD) and glutathione-S-transferase P1 (GSTP1) on the oxidative stress in CAD.

adenovirus


Input: This study confirms that defects in the ORNT1 gene cause the HHH syndrome and that the genetic basis in Japanese patients is heterogeneous.

HHH syndrome

HHH syndrome


Input: Wnt4, in turn, acts through the noncanonical pathway to activate epithelial cell remodeling and IL8 gene expression, leading to neutrophil infiltration and inflammation.

inflammation


Input: We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds.

Roberts syndrome

Roberts syndrome


Input: In view of these findings it is conceivable as one of possibilities that a mild and small mutation in the structural or promotor region of the P450c21 gene may cause the decreased 21-hydroxylase activity in this adenoma.

mild


Input: TIL/PBMC were stimulated with peptides (gp100209, gp100pool, MART-127-35, or influenza-M1 and negative control peptide HIV) to further assess assay performance characteristics for real time RT-PCR and ELISPOT methods.

TIL

influenza