Input: We next confirmed that, in human HNSCC tumors, loss of KiSS1 expression was associated with metastatic human HNSCC tumors compared with non-metastatic tumors.

HNSCC

HNSCC


Input: Gene expression profiling at distinct stages of tumor progression revealed an increase in EMT-associated Sox9 and changes in the Wnt signaling pathway, including Fzd4, which was validated in human PCa.

EMT

tumor progression


Input: In linear regression models among 147 children with ferritin > 10 ng/mL that adjusted for erythropoiesis with log (10) reticulocyte count, the hypoxic response with hemoglobin concentration and iron status with log (10) ferritin concentration, positive correlations were found between log (10) transferrin receptor concentration and log (10) C-reactive protein concentration (P = 0. 012), log (10) interleukin-6 concentration (P = 0. 011) and log (10) neutrophil count (P = 0. 013).

C-reactive protein

hypoxic


Input: While AAV-and lentivirus-mediated gene replacement therapy can produce structural and functional improvements in various animal models of inherited retinal degeneration, this approach often has very limited effects on the rate of photoreceptor cell loss.

AAV

retinal degeneration


Input: We assessed the-765G > C polymorphism and COX-2 expression in 220 asymptomatic subjects free of cardiovascular disease, in relation to global vascular risk, carotid intima-media thickness (IMT), and inflammatory markers (fibrinogen, C-reactive protein [CRP], von Willebrand factor [vWF] and interleukin-6 [IL-6]).

asymptomatic


Input: Knockout of CDC4 in vitro in colorectal cancer cells causes changes suggestive of chromosomal instability (CIN).

chromosomal instability


Input: We replicated the associations between HNF1A coding variants and C-reactive protein, fibrinogen, low-density lipoprotein cholesterol, and renal function in a second population-based sample of EA adults 65 years and older from the Cardiovascular Health Study.

fibrinogen


Input: Expression of CDK5 in gastric tumor and paired adjacent noncancerous tissues from 437 patients was measured by Western blotting, immunohistochemistry, and real-time PCR.

gastric tumor


Input: We did not observe effect modification of either the GSTM1 or GSTT1 association with cancer risk by smoking status, postmenopausal hormone use, or body mass index.

body mass index


Input: Infection with gram-negative monocytotropic Ehrlichia strains results in a fatal toxic shock-like syndrome characterized by a decreased number of Ehrlichia-specific CD4 (+) Th1 cells, the expansion of tumor necrosis factor alpha (TNF-alpha)-producing CD8 (+) T cells, and the systemic overproduction of interleukin-10 (IL-10) and TNF-alpha.

toxic shock


Input: 10 μM), reduced the expression of hexokinase type-II, induced cell-cycle arrest at G1-S phase transition, altered annexin V reactivity and induced DNA fragmentation without evidence of necrosis.

annexin V

necrosis


Input: Our data showed that the PTEN/PI3K pathway was active in human ESCC tissues in vivo, particularly in ESCC with decreased E-cadherin and increased vimentin protein expression, poor differentiation, deep invasion and lymph node metastasis, which are responsible for EMT and tumor progression.

EMT

tumor progression


Input: Targeted inactivation of Dlx5 and Dlx6 in mice results in multiple developmental defects in craniofacial and limb structures, suggesting that these genes are crucial for aspects of both neural crest and nonneural crest development.

crest


Input: Many of these lymphomas have the t (14; 18) translocation, which results in increased bcl-2 expression and resistance to apoptosis.

translocation


Input: Exposure of Jurkat cells to BITC resulted in dose-and time-dependent increase in apoptosis, caspase activation, cytochrome c release, nuclear apoptosis-inducing factor (AIF) accumulation, Bcl2-associated X protein (Bax) translocation, and myeloid cell leukemia-1 (Mcl-1) downregulation.

translocation


Input: Therefore, our results did not support the involvement of the alleles at MAOA and MAOB in the etiology of mood disorder.

MAOB

mood disorder

MAOB

mood disorder


Input: We evaluated the sensitivity and false positive rate (FPR) (95% confidence interval (CI)) of three screening methods for DS and all chromosomal disorders: CT, CT + MGS, and CT + fetal echocardiography.

FPR

chromosomal disorders


Input: Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma.

nonbullous congenital ichthyosiform erythroderma

nonbullous congenital ichthyosiform erythroderma


Input: This study aimed to determine whether there is a relationship between common FTO (rs17817449) and MC4R (rs17782313) gene variants and body mass reduction or weight loss after a one-month lifestyle intervention in overweight/obese children.

FTO

overweight


Input: We confirmed the 1. 87 (p = 0. 021) increased relative risk for microalbuminuria in patients with DR3/DR3 alleles and same duration of diabetes.

microalbuminuria


Input: Associations between each GRS and a self-reported history of CVD, coronary artery calcified plaque (CAC) determined by noncontrast computed tomography scan, all-cause mortality, and CVD mortality were examined using marginal models with generalized estimating equations and Cox proportional hazards models.]

CAC

plaque


Input: We describe here the identification of a novel mutation, Arg552Trp, in the RYR1 gene, which is clearly linked to the MHS phenotype in a large, well characterised Irish pedigree.

MHS

MHS


Input: In this study, we present what we believe to be the first antibody deficiency syndrome caused by a mutation in the CD81 gene and consequent disruption of the CD19 complex on B cells.

antibody deficiency syndrome


Input: One is PIK3C3, a member of the phosphatidylinositide 3-kinase family that maps closely to markers on 18q linked to both BD and SZ in a few studies.

BD

BD


Input: As compared to findings in the normal counterparts, AdipoR1 mRNA expression, standardized by β-actin mRNA, tended to be lower (cancer 0. 488 ± 0. 039, normal 0. 955 ± 0. 281, p = 0. 0726) and AdipoR2 expression was significantly lower (0. 818 ± 0. 081, 1. 500 ± 0. 222, p = 0. 0035) in gastric cancer tissue.

gastric cancer


Input: Higher SLC6A4 promoter methylation status was independently associated with PSD both at 2 weeks and more prominently at 1 year after stroke, and was significantly associated with the worsening of depressive symptoms over one year.

PSD

stroke


Input: We hypothesized that dysferlin functions may contribute to muscle cell viability in the knock-in mice; however, pathological interactions between glycosylation abnormalities and dysferlin defects remain unexplored.

dysferlin

abnormalities


Input: However, our failure to find genetic association suggests that the differential expression of ERBB3 in schizophrenia may be environmentally driven, or involve cis-or trans-acting genetic factors beyond the boundaries of the gene itself.

schizophrenia

schizophrenia


Input: C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

titin

early-onset myopathy with fatal cardiomyopathy

titin

early-onset myopathy with fatal cardiomyopathy


Input: This inhibition prevented the activation of HIF-1 target genes under hypoxia such as vascular endothelial growth factor (VEGF) and glucose transporter-1 (Glut-1).

VEGF

hypoxia


Input: DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome.

hypocomplementemic urticarial vasculitis

hypocomplementemic urticarial vasculitis


Input: In humans, heterozygous mutations of the PHOX2B gene lead to congenital central hypoventilation syndrome (CCHS), a rare disorder characterized by a broad variety of symptoms of autonomic nervous system dysfunction including inadequate control of breathing.

PHOX2B gene

breathing


Input: SHP2, PIAS3, and SOCS3 are STAT3 negative regulators; therefore, their statuses in cervical adenocarcinoma (HeLa) and squamous cell carcinoma (SiHa and C33A) cell lines without and with resveratrol treatment and their correlation with STAT3 activation in CC specimens were investigated.

cervical adenocarcinoma


Input: Interestingly, several genes (TESK2, TIPARP, THEMIS, ABLIM1, RFX4, STON2 and LILRA1) are associated with three personality traits with p < 10 (-3) using single trait analysis and AD.

personality traits


Input: Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

retinitis pigmentosa

retinitis pigmentosa


Input: MSC-derived EV obtained in hyperglycaemic/hypoxic conditions down-regulate miR-126 expression in pericytes, leading to increased expression of angiogenic molecules, such as VEGF and HIF-1α.

VEGF

hypoxic


Input: We determined that starvation also induced DRAM expression and DRAM-mediated autophagy in both normal hepatocytes and HCC cells.

HCC

starvation


Input: We amplified these (AAAT) repeat variants from the NOS2A gene (denoted iNOS R4 and iNOS R5) from 325 Finnish men included in the Helsinki Sudden Death Study, and studied their association with indices of stenosis and atherosclerosis of the left anterior descending artery (LAD), right coronary artery (RCA) and left circumflex artery (LCX).

LCX

atherosclerosis


Input: There were no differences in p53, Ki67, CD30, and CD117 expression between testicular seminoma with and without clinical metastasis at diagnosis, regardless of the magnitude of expression.

testicular seminoma


Input: Our finding suggests that IL-18 polymorphism (rs1946518) may not be a risk factor for susceptibility to tuberculosis in a sample of Iranian population.

susceptibility to tuberculosis


Input: Instead, they were linked to the coordinated upregulation in gastrocnemius of genes that govern glucose uptake and the hexosamine pathway, namely, GLUT1 and GFAT1, which might contribute to insulin resistance.

insulin resistance


Input: In IDH lesions loss of heterozygosity (LOH) at various loci could be identified, and comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) studies delivered evidence for DNA amplification on chromosomal region 20q13 in the early stage of IDH. However, little is currently known about genetic alterations in those premalignant lesions, and the chronology of genetic alterations and histopathological changes during carcinogenesis is mainly undiscovered.

FISH

premalignant


Input: After adjusting for pre-treatment hemoglobin in a multivariate analysis, ERCC1 FL297 expression status remained statistically significant for OS [HR 1. 9 (1. 1-3. 3), p = 0. 031].

hemoglobin


Input: Consistent with the more aggressive disease associated with low expression, helicase-like transcription factor knockdown in leukemic cells promoted proliferation and chromosomal instability that was accompanied by downregulation of mitotic regulators and impaired DNA damage response.

helicase-like transcription factor

chromosomal instability


Input: Loss of PINK1 enhances neurodegeneration in a mouse model of Parkinson' s disease triggered by mitochondrial stress.

neurodegeneration

neurodegeneration


Input: Relationship of NAT2, CYP2E1 and GSTM1/GSTT1 polymorphisms with mild elevation of liver enzymes in Brazilian individuals under anti-tuberculosis drug therapy.

mild


Input: We identified inactivation of another member of the SWI/SNF chromatin-remodeling complex, its ATPase subunit SMARCA4 (also known as BRG1), due to a SMARCA4/BRG1 germline mutation and loss of heterozygosity by uniparental disomy in the tumor cells of two sisters with rhabdoid tumors lacking SMARCB1 mutations.

SWI

uniparental disomy


Input: We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H (+) ATPase, in two individuals with ZLS.

ZLS

ZLS


Input: Conversely, colon carcinoma cells that lacked DHODH expression were markedly resistant to the pro-oxidant and cytotoxic effects of 4HPR.

DHODH

colon carcinoma


Input: An increase of the ADRB2 genes expression was demonstrated in patients with severe asthma and COPD as compared with patients with mild and moderate disease.

mild


Input: In the present study, we examined the expression of the alpha5 (IV)/alpha6 (IV) chains and the methylation profiles of the bidirectional promoter region of COL4A5/COL4A6 in colon cancer cell lines and colorectal tumor tissues.

colon cancer


Input: Genes encoding proteins that are involved in the metabolism (CYP3A5) and transport (ABCB1) of drugs and hormones might contribute to blood pressure control in humans.

blood pressure


Input: We report two mutations in a rat model of inattentive ADHD, the WKY/NCrl rat, which affect the interaction of SLC9A9 with calcineurin homologous protein (CHP).

CHP

inattentive


Input: These findings suggest that the increased secretion of ET-1 leading to enhanced pigmentation in SK results from the co-ordinated increased expression of TNF-alpha and ECE-1alpha.

ECE

pigmentation


Input: BRCA1-and p53-deficient mouse mammary tumors exhibit dramatic genomic instability, and their molecular signatures resemble those of human BRCA1-mutated breast cancers.

genomic instability


Input: Neither receptor was detectable in normal liver by immunohistochemistry, but both LGR7 and LGR8 were readily detectable in cirrhosis.

cirrhosis


Input: The pre-osteoclast cell pool, osteoclast differentiation, and bone resorption in response to receptor activator of nuclear factor κB ligand in vitro were increased in Notch2 (Q2319X) mutants.

bone resorption


Input: The median edema fluid/plasma ratio of RAGE levels was 105 (interquartile range, 55-243).

RAGE

edema


Input: The translocation in chronic lymphocytic leukemia results in the juxtaposition of the bcl-2 gene to various regions on the immunoglobulin light chain loci.

bcl-2 gene

translocation


Input: Combined with the finding that HN derivatives upregulate mRNA expression of neuronal ChAT and vesicular acetylcholine transporter (VAChT) in vitro, it is assumed that CLN may ameliorate memory impairment of AD models by supporting cholinergic neurotransmission, which is at least partly mediated by STAT3-mediated transcriptional upregulation of ChAT and VAChT.

memory impairment

memory impairment


Input: In this study, we used differential display to investigate the alterations of gene expression in BV173, a CML cell line derived from lymphoid blast crisis, after exposure to ST1571, which selectively inhibits ABL PTK activity.

PTK

blast crisis


Input: Genetic deletion of MeCP2 function in only the nervous system was sufficient to cause long QTc and ventricular tachycardia, implicating neuronally mediated changes to cardiac electrical conduction as a potential cause of ventricular tachycardia in Rett syndrome.

nervous system


Input: A recurrent chromosomal abnormality associated with a subset of papillary renal cell carcinomas is t (X; 1) (p11; q21).

chromosomal abnormality


Input: We have also previously shown GRK3 expression to be induced by amphetamine in an animal model of mania using microarray-based expression profiling.

mania

mania


Input: We now report four different missense mutations including three novel ones, which were identified by sequence analysis of mevalonate kinase cDNA from three mevalonic aciduria patients.

mevalonate kinase

mevalonic aciduria

mevalonate kinase

mevalonic aciduria


Input: Our results provide the first evidence that GRP78 confers resistance to estrogen starvation-induced apoptosis in human breast cancer cells via a novel mechanism mediated by BIK.

starvation


Input: Our study indicates that (1) p63 and p73 expression may represent an early event in HNSC tumorigenesis, (2) the lack of correlation between p73 or p63 and p53 expression suggests an independent and/or compensatory functional role, (3) p73 expression may play a part in HNSC progression, and (4) p73 and p63 may function as oncogenes in the development of these tumors.

tumorigenesis


Input: The anti-mitotic drug griseofulvin induces apoptosis of human germ cell tumor cells through a connexin 43-dependent molecular mechanism.

connexin 43

germ cell tumor


Input: Significantly, increased MBNL1 in skeletal muscle partially corrected myotonia and splicing defects present in these mice, demonstrating the responsiveness of the model to relevant therapeutic interventions.

myotonia

myotonia


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

prodynorphin

depression

prodynorphin

depression


Input: Albers-Schönberg disease, or autosomal dominant osteopetrosis type II (ADO2), is caused by ineffective osteoclastic bone resorption resulting from mutations in the chloride channel 7 (ClCN7) gene.

bone resorption


Input: However, in patients with the TLR2 R753Q SNP, higher rates of infection recurrence (27. 8% versus 11. 8%, P = 0. 07) and initial septic shock (11. 1% versus 1. 2%, P = 0. 047) were observed.

septic shock


Input: In C57BL/6 mice, genetic immunization with recombinant adenovirus encoding xenogeneic human tyrosinase-related protein 2 (Ad-hTRP2) induces protective but not therapeutic cellular immunity against growth of transplanted B16 melanoma cells.

tyrosinase-related protein 2

adenovirus


Input: Retinal vascularization was investigated in flatmount preparations after concanavalin A labeling of endothelial cells on days P6, P14, P17, and P20.

vascularization


Input: We propose that these three RA-binding proteins can serve as biomarkers for predicting triple-negative breast cancer response to RA, with elevated levels of either cytoplasmic CRABP1 or FABP5 associated with RA resistance, and elevated levels of nuclear CRABP2 associated with sensitivity to RA.

triple-negative breast cancer


Input: Frequency of the intron 4 polymorphism of NOS3 (designated allele A) among patients with preeclampsia compared with controls.

preeclampsia


Input: Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations.

FVIII

hemophilia A

FVIII

hemophilia A


Input: In vitro study, knocking down of p300 expression in hepatoma cells recovered E-cadherin expression, inhibited the translocation of beta (β)-catenin into the nuclei, decreased cyclin D1 activity and suppressed the migration/invasion of HCC cells.

E-cadherin

translocation


Input: Given the hypothesis of a common soil for atherosclerosis, type 2 diabetes and metabolic syndrome, we tested the contribution of gene polymorphisms involved in cardiovascular diseases on fasting insulin concentration (FIC).

FIC

metabolic syndrome


Input: Podocyte-specific transgenic overexpression of Angptl4 (NPHS2-Angptl4) in rats induced nephrotic-range, and selective, proteinuria (over 500-fold increase in albuminuria), loss of glomerular basement membrane (GBM) charge and foot process effacement, whereas transgenic expression specifically in the adipose tissue (aP2-Angptl4) resulted in increased circulating Angptl4, but no proteinuria.

albuminuria


Input: In addition, the chimeric junction AML1/MDS1/EVII has been detected in cells from one of our patients with the 3; 21 translocation.

translocation


Input: We examined memory improvement with respect to the effects of gastrin-releasing peptide (GRP) in male C57BL/6J mice under conditions of experimentally induced amnesia.

gastrin-releasing peptide

amnesia

gastrin-releasing peptide

amnesia


Input: Adverse effects were seen on the total NNE-C (β =-2. 55; p =. 02) and on primitive reflexes (β =-1. 70; p =. 004), especially in grasp reflexes (β =-. 36; p =. 011) and tonic neck reflexes (β =-. 36; p =. 049).

NNE

primitive reflexes


Input: This study suggests that mesothelioma cells are sensitive to the induction of apoptosis related to the attenuation of antiapoptotic bcl-xl gene and protein expression.

bcl-xl

mesothelioma


Input: our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder; (ii) these two disorders share common disease-related mechanisms linked to dopamine signalling; (iii) the expression of these genes is closely correlated; and (iv) DRD2 provides the initial trigger in the pathogenesis of these disorders.

bipolar disorder

bipolar disorder


Input: In the vascular system, Cav3. 2 activation leads to dilation of blood vessels, whereas Cav3. 1 channels are mainly suggested to affect constriction.

Cav3. 2

dilation


Input: Synovial sarcoma is characterized by a specific recurrent translocation t (X; 18), resulting in either the SYT-SSX1 or SYT-SSX2 gene fusion.

SSX2 gene

translocation


Input: IL-10 polymorphisms in-819 and-592 positions correlated with the postoperative residual tumor mass (p = 0. 036 and p = 0. 035, respectively).

residual tumor


Input: Apoptosis signal-regulating kinase 1 regulates colitis and colitis-associated tumorigenesis by the innate immune responses.

Apoptosis signal-regulating kinase 1

tumorigenesis


Input: In this study, we examined 19 cases of LEC from the United States for evidence of microsatellite instability at the DNA level and for alterations in the DNA mismatch repair (MMR) system at the immunohistochemical staining level.

MMR

microsatellite instability


Input: Blood collections were used to measure blood glucose, bacteremia, plasma protein C, D-dimer, hormones, chemokines, cytokines, and myoglobin (as a marker of organ damage).

protein C

bacteremia


Input: Although BF treatment did not further up-regulate MDR3 expression in NAFLD patients, PPARalpha expression was significantly increased.

NAFLD

NAFLD


Input: The mRNA expression patterns of IFN-gamma and tumor necrosis factor alpha were examined in parallel, and the results revealed that cytokine mRNA (+) cells were abundant and generally localized to the granulomas.

IFN

granulomas


Input: The median left ventricular mass index measured with echocardiography was normal in all the 3 subgroups. cTnT mRNA expression in skeletal muscle was not detectable in controls but was strongly induced in patients with Pompe disease. cTnT protein was identified by mass spectrometry in patient-derived skeletal muscle tissue.

cTnT

Pompe disease

cTnT

Pompe disease


Input: Angiopoietin-1 therapy enhances fibrosis and inflammation following folic acid-induced acute renal injury.

fibrosis

fibrosis


Input: Surface expression of CD62 was also significantly increased in the depressed patients versus control subjects.

depressed

depressed


Input: Early in acute myocardial infarction the expression of miR-423-5p in plasma is significantly increased with subsequent normalization within 6 hours.

myocardial infarction

myocardial infarction


Input: Progression of follicular lymphoma to a more aggressive lymphoma is seen in the majority of patients, and approximately 10% of the transformed lymphomas have a translocation of c-myc in addition to the translocation of bcl-2 found in the original follicular lymphoma.

translocation


Input: Here we report the exclusion of five of these genes and the identification of the first mutations responsible for the development of PXE in a gene encoding a protein associated with multidrug resistance (ABCC6).

PXE

PXE


Input: This expression also destabilized the PLZF/RARα-induced high-molecular-weight complex formation and caused the degradation of the fusion protein.

PLZF

weight


Input: SSTR1 and SSTR4 immunoreactivities were increased in the hippocampus at 1 week after SE.

SE

SE


Input: We demonstrate convincing evidence that SUFU mutations can cause classical Gorlin syndrome.

SUFU

Gorlin syndrome

SUFU

Gorlin syndrome


Input: Mice that overexpress an approximately 200-kb region of human 22q11. 2, containing CDCrel, GP1Bbeta, TBX1, and WDR14, exhibited spontaneous sensitization of hyperactivity and a lack of habituation.

hyperactivity


Input: In summary, the Rho/ROCK/HIF-1alpha signaling is an essential mechanism for hypoxia-driven, VEGF-mediated autocrine loop in ECs.

VEGF

hypoxia


Input: Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.

MPS-VI

MPS-VI


Input: Hereditary angioedema (HAE) is a genetic syndrome caused by a functional deficit in complement C1 inhibitor that results in recurrent episodes of nonpruritic swelling of the hands, feet, arms, legs, trunk, face, genitalia, bowels, and larynx beginning in childhood or adolescence and continuing throughout the patient' s lifetime.

C1 inhibitor

Hereditary angioedema

C1 inhibitor

Hereditary angioedema


Input: We investigated the association of signals from previous GWAS and candidate gene meta-analyses for diabetic retinopathy (DR) or nephropathy (DN), as well as an EPO variant in meta-analyses of severe (SDR) and mild diabetic retinopathy (MDR).

EPO

mild


Input: Available tumours were analysed for microsatellite instability and expression of MMR proteins.

MMR

microsatellite instability


Input: Granulosa cells of obese pigs had increased 3-beta-hydroxysteroid dehydrogenase 1 transcript levels.

3-beta-hydroxysteroid dehydrogenase 1

obese


Input: Isoimmunization against CD36 can cause neonatal isoimmune thrombocytopenia (NITP), refractoriness to platelet transfusions, and post-transfusion purpura.

purpura


Input: An extensive fluorescent in situ hybridization analysis showed the tumor to be negative for the t (4; 14) FGFR3/IGH translocation as well as translocations involving the IGH, IGL, IGK, CCND1, BCL2, BCL6 and C-MYC genes.

translocation


Input: Microarray gene profiling analysis showed that HRI was required for adaptive gene expression in erythroid precursors during chronic iron deficiency.

HRI

iron deficiency


Input: Male alcoholic suicide attempters, compared to male non-attempters, had the higher frequency of Met/Met genotype or Met allele, and significantly (Kruskal-Wallis ANOVA on ranks and Mann-Whitney test) higher aggression and depression scores.

ANOVA

aggression


Input: Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.

GPIIb

glanzmann thrombasthenia

GPIIb

glanzmann thrombasthenia


Input: In 4% of cases, the IgH/BCL2 translocation was not detected by any of the two techniques tested.

translocation


Input: Herein we reported the proliferation stimulating effect of RhoC and IQGAP1 on gastric cancer cells and the interaction between two proteins in regulating the proliferation of gastric cancer cells.

RhoC

gastric cancer


Input: PURPOSE: The aims of this study were (a) to locate the breakpoints of a balanced translocation (7; 13) within a mother (B) and daughter (T); (b) to describe the language and cognitive skills of B and T; and (c) to compare this profile with affected family members of the KE family who have a mutation within FOXP2.

translocation


Input: In summary, our results show that topology of mutations predicts in part the behavior of mutant CBS, and that misfolding may be an important and frequent pathogenic mechanism in CBS deficiency.

CBS

CBS deficiency

CBS

CBS deficiency


Input: The 43-kD transactive response (TAR)-DNA-binding protein (TARDBP) mutations have been demonstrated to be causative of sporadic and familial forms of amyotrophic lateral sclerosis.

DNA-binding protein

amyotrophic lateral sclerosis


Input: Association between HTR2C and HTR2A polymorphisms and metabolic abnormalities in patients treated with olanzapine or clozapine.

abnormalities


Input: Here, we report the identification of FGFR3 mutations in 25/26 TD cases.

TD

TD


Input: The PAX5-FOXP1 translocation is a nonrandom aberration, which is recurrent in both childhood and in adult B-ALL, and may contribute to leukemogenesis by blocking differentiation of hematopoietic cells into mature B-cells.

B-ALL

B-ALL


Input: We have previously reported the cloning of a gene that encodes a copper transporting P-type ATPase (ATP7B) which is defective in Wilson disease.

Wilson disease

Wilson disease


Input: Wild-type mice had fewer viral antigen-positive cells with greater inflammation in the CNS than CD1 (-/-) mice.

inflammation


Input: Because anti-estrogens reduced PTTG expression in human pituitary tumors in vitro and suppressed experimental tumor growth in vivo, concomitantly with reduced PRL secretion, these results indicate a role for selective antiestrogens in treating pituitary tumors.

PTTG

experimental tumor


Input: These studies suggest that protein nitration during hyperoxia may be mediated in part by MPO generated from activated phagocytic cells, and such protein modifications may contribute to hyperoxia-mediated lung injury.

MPO

hyperoxia


Input: The present study was conducted to see the role of NF-kappaB in virulent (Mycobacterium tuberculosis H37Rv) and avirulent (M. tuberculosis H37Ra) mycobacterial infection in THP-1 cells.

NF-kappaB

mycobacterial infection


Input: Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

SDHD

mitochondrial complex II deficiency

SDHD

mitochondrial complex II deficiency


Input: A novel class of ncRNA-derived small RNAs, shown to be strongly induced during an early phase of learning in mouse, is also expressed in man, and at least one representative (SNORD85) was strongly down-regulated in schizophrenia synaptosomes.

schizophrenia

schizophrenia


Input: We found no mutations in HESX1, PROP1, and POU1F1 genes and four polymorphisms in PROP1 gene which were in Hardy-Weinberg equilibrium and had similar allelic frequencies in craniopharyngioma and controls.

craniopharyngioma


Input: Children with GNMT mutation have elevated liver transaminases, and Gnmt knockout mice develop liver injury, fibrosis, and HCC.

Gnmt

fibrosis


Input: RESULTS: Stable knockdown of radixin significantly suppressed migration and invasion, but enhanced adhesion in SGC-7901 cells.

radixin

adhesion


Input: TOP2A is overexpressed and is a therapeutic target for adrenocortical carcinoma.

adrenocortical carcinoma

adrenocortical carcinoma


Input: This resulted in a reduction in the DNA binding activity of RARalpha/retinoid X receptor alpha (RXRalpha) heterodimer, the separation of RXRalpha from RARalpha and the translocation of RXRalpha from the nucleus to the cytoplasm.

X receptor

translocation


Input: Patients with Asn656 allele of LEPR gene have a different response than wild-type patients, and Lys656Lys patients have a significant decrease in weight, BMI, fat mass, waist circumference, systolic blood pressure and leptin levels.

LEPR gene

weight


Input: All cases (n = 7) with the cytogenetic abnormality t (8; 21) (q22; q22) belonged to this group of IL-5 responders.

cytogenetic abnormality


Input: The least understood form of the disease is neuronopathic OP [OP and infantile neuroaxonal dystrophy, MIM (Mendelian inheritance in man) 600329] which causes rapid neurodegeneration and death within the first year.

MIM

infantile neuroaxonal dystrophy


Input: Here we studied the expression of ARG2 in pancreatic ductal carcinoma (PDC) tissue clinicopathologically by examining over 200 cases of PDC.

pancreatic ductal carcinoma

pancreatic ductal carcinoma


Input: The combination of CRM1 and BRAF inhibition synergizes and induces melanoma regression in BRAF-mutant melanoma.

regression


Input: Exon 5 is a functional domain of the PEN/MMAC1 gene, and therefore, abnormalities in this region may be important for loss of PTEN/MMAC1 gene function.

PEN

abnormalities


Input: We demonstrated that GA treatment of hypoxic DU-145 cells abolished the induction of HIF-1alpha protein in a time-dependent manner and decreased VEGF mRNA and its protein levels.

VEGF

hypoxic


Input: Phosphatidylinositol 4, 5-biphosphate (PIP2)-induced vesicle movement depends on N-WASP and involves Nck, WIP, and Grb2.

vesicle


Input: The aim of our study was to examine TGCT and testicular cancer cell lines for deletions and mutations of the p15 and p16 genes.

testicular cancer


Input: Based on MRI measurements, several phases following IL-13Ralpha2-specific T-cell adoptive transfer could be distinguished, all of which correlated well with glioblastoma regression confirmed on histology.

MRI

glioblastoma


Input: Study indicate that NO and ADA may play an important role in the pathogenesis of MTX-induced oxidative spinal cord damage.

ADA

spinal cord

ADA

spinal cord


Input: Dkk3 belongs to a novel family of Dkk proteins, which have been shown to be potent inhibitors of the neurodevelopmental wingless (Wnt) signalling pathway, and is therefore a putative candidate for further investigation into the aetiology of schizophrenia.

schizophrenia

schizophrenia


Input: To determine the identity and frequency of FUS gene mutations in a large cohort of Italian patients enriched in sporadic cases (SALS).

FUS gene

sporadic


Input: We also identified affected individuals in two apparently dominant families, diagnosed with juvenile retinitis pigmentosa or dominant cone-rod dystrophy, respectively, who are heterozygous for a 12-bp AIPL1 deletion.

cone-rod dystrophy

cone-rod dystrophy


Input: We evaluated neuropeptide Y (NPY) receptor expression in 131 primary human brain tumors, including gliomas, embryonal tumors, meningiomas, and pituitary adenomas, by in vitro receptor autoradiography using the 125I-labeled NPY receptor ligand peptide YY in competition with NPY receptor subtype-selective analogs.

peptide YY

gliomas


Input: Besides confirming all previously published loci, we discovered six new susceptibility loci, and further gene prioritization analysis of these loci implicated BATF3, CCDC88B and CIITA-SOCS1 as new susceptibility genes for leprosy.

leprosy

leprosy


Input: In a cohort of human liver samples histologically classified for non-alcoholic fatty liver disease, AKR1B10, SREBP1a and SREBP1 lipogenic target genes proved to be up-regulated in steatohepatitis, while PXR protein was reduced.

non-alcoholic fatty liver disease


Input: Clonal foci with RER (+) phenotype were detected at similar frequencies in pre-cancereous PIN (16%, 5/31) as in associated carcinoma foci (22%, 37/172), but were detected in only one of the 26 non-dysplastic prostate tissues studied (4%).

RER

carcinoma


Input: Evaluation of RANK/RANKL/OPG gene polymorphisms in aggressive periodontitis.

RANK

aggressive periodontitis


Input: Heterozygous familial or sporadic GATA2 mutations cause a multifaceted disorder, encompassing susceptibility to infection, pulmonary dysfunction, autoimmunity, lymphoedema and malignancy.

autoimmunity


Input: Here, we use RNAi technology to identify a novel oncogenic pathway that involves aberrant activation of the TYK2 tyrosine kinase and its downstream substrate, STAT1, which ultimately promotes T-ALL cell survival through the upregulation of BCL2 expression

T-ALL

T-ALL


Input: The genotype and allele frequencies of the LEPR Gln223Arg polymorphism were significantly different between normal-weight and overweight plus obese groups (P = 0. 013 and 0. 009, respectively).

LEPR

weight


Input: Our study revealed a critical role of SHP and REV-ERB & #945; in controlling rhythmic CHOP expression in alcoholic fatty liver.

CHOP

fatty liver

CHOP

fatty liver


Input: Individuals with HAA exhibited low interleukin (IL) 6 (p < 0. 05) and high IL-10 (p < 0. 05) levels compared with asymptomatic patients.

asymptomatic


Input: The identification of up-regulation and differential splicing of CD44 following p63 over-expression indicates roles in the regulation of adhesion, metastasis and the cancer stem cell phenotype.

adhesion


Input: Only in exceptional circumstances do normal, non-neoplastic T cell populations express the CD4-CD8-or the CD4 + CD8 + phenotype and/or lack one or more pan-T cell antigens.

non-neoplastic


Input: Influence of common variants near INSIG2, in FTO, and near MC4R genes on overweight and the metabolic profile in adolescence: the TRAILS (TRacking Adolescents' Individual Lives Survey) Study.

FTO

overweight


Input: Since EMT is critical for tumor progression, identification of the molecular mechanisms involved should elucidate novel therapeutic targets.

EMT

tumor progression


Input: The phenotype of renal agenesis/dysgenesis strongly indicates the existence of KAL1 gene defects in the genotype of patients with sporadic KS, providing evidence for the X-linked mode of inheritance and offering the opportunity for genetic counseling.

KAL1 gene

sporadic


Input: These data suggest that extracellular S1P signaling via its receptors is not involved in adenoma cell proliferation.

adenoma


Input: Together, our data indicate that p33ING1b may be an important marker and/or therapeutic target in the prevention and treatment of metastatic osteosarcoma.

metastatic osteosarcoma


Input: Antisense Bcl-2-mediated cytotoxicity was associated with the induction of the B cell translocation gene 1 (BTG1).

translocation


Input: The gene for NAGLU has been fully characterized and we report the molecular analysis of 18 Sanfilippo B families.

NAGLU

Sanfilippo B

NAGLU

Sanfilippo B


Input: The cell death induced by serum starvation and conditioned media was inhibited by 70%, in the presence of neutralizing tumour necrosis factor alpha (TNF-alpha) antibody.

TNF-alpha

starvation


Input: Tumors were MYCN non-amplified, with 2p copy gain consistent with the germline translocation.

MYCN

translocation


Input: We integrated the RNA-Seq results with DNA-binding sites of BRD4 generated by chromatin immunoprecipitations, correlated these with gene expressions from human prostate cancers and identified 21 top BRD4 candidate genes among which the oxidative stress pathway genes KEAP1, SESN3 and HDAC6 are represented.

prostate cancers

prostate cancers


Input: Targeted exome sequencing using the IMPACT assay was used to address whether the presence of gene fusions is mutually exclusive from TSC gene abnormalities.

IMPACT

abnormalities


Input: Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

spinocerebellar ataxia and erythrokeratodermia

spinocerebellar ataxia and erythrokeratodermia


Input: Protein and mRNA levels of Hh signaling pathway components (sonic hedgehog [Shh], protein patched homolog 1 [Ptch 1], GLI family zinc finger 1 [Gli 1] and suppressor of fused homolog [Drosophila] [Sufu]) in 127 patients with colon cancer, 36 with melanosis coli and 20 adjacent normal mucosal tissues taken from surgical specimens were evaluated using antibody staining and quantitative real-time polymerase chain reaction.

sonic hedgehog

colon cancer


Input: This translocation creates the API2-MALT1 fusion oncoprotein, which comprises the amino terminus of inhibitor of apoptosis 2 (API2 or cIAP2) fused to the carboxy terminus of MALT1.

translocation


Input: After adjustments for other risk factors, such as age, gender, drinking history and family history of cancer, the interactions between the HSP70-1 and HSP70-hom genotypes and smoking were confirmed [I (AB), 2. 56 and 5. 12, respectively].

smoking


Input: In the current work we have explored the effect of NTN4/ITGB4 interaction on TMZ induced glioblastoma cell senescence.

glioblastoma


Input: As an intervention with ER stress responses in the intestinal cancer cells, preventive exposure to flavone apigenin potentiated superinduction of a regulatory transcription factor, activating transcription factor 3 (ATF3), which is also known to be an integral player coordinating ER stress response-related gene expression.

intestinal cancer


Input: Wilson disease patients from a homogeneous ethnical background (Saxonia) were studied for distribution and phenotypes of ATP7B mutations.

Wilson disease

Wilson disease


Input: Intermittent parathyroid hormone (PTH) treatment stimulates bone remodeling and increases bone density in healthy subjects.

PTH

bone density


Input: Genes such as DSCR1 that are duplicated in Down syndrome might not play an important role in tumorigenesis of epithelial ovarian cancer.

tumorigenesis


Input: In this study, we investigated the role of low-level p53 overexpression in warfarin-induced porcine AVIC (pAVIC) calcification.

calcification

calcification


Input: Bisulfite pyrosequencing was used to quantify the methylation of 14 CpG island promoters (MINT25, RORA, GDNF, CDH1, RARAB2, ER, CDH13, MYOD1, SFRP1, P2RX7, SLC16A12, IGF2, DPYS, and N33) and LINE1 from 72 patients with gastric cancer, 67 control, and 52 healthy young individuals.

DPYS

gastric cancer


Input: Though it is known that dorsal root ganglia (DRG) sensory neurons exposed to HMGB1 and TLR4 agonists can influence excitation, the degree to which at-HMGB1 signaling through neuronal RAGE contributes to neuropathic pain is unknown.

neuropathic pain

neuropathic pain


Input: The variables significantly associated with SVR in a multivariate analysis were HCV-genotype (GT) 3 {adjusted odds ratio [aOR] = 7. 66 [95% of confidence interval (95% CI): 3. 96 to 14. 81] P < 0. 001}, HCV-viremia < 500, 000 IU/mL [aOR = 2. 20 (95% CI: 1. 16 to 4. 15] P = 0. 015), no/mild liver fibrosis (F < 2) [aOR = 1. 92 (95% CI: 1. 08 to 3. 42) P = 0. 026], IL28B rs12980275 AA genotype [aOR = 2. 70 (95% CI: 1. 54 to 4. 71) P < 0. 001], and PPARγ2 rs1801282 CG/GG genotype [aOR = 2. 93 (95% CI: 1. 27 to 6. 72) P = 0. 011].

mild


Input: AdipoR1 and AdipoR2 mRNAs were increased in monocytes of obese controls and T2D patients when compared to normal-weight controls, and AdipoR1 mRNA positively correlated to AdipoR2 mRNA, the waist to hip ratio and systemic adiponectin.

weight


Input: Similarly, in virtually all xenograft tumours of the M059K, M006 and M010b lines, VEGF ISH showed similar staining across all regions of healthy cells up to the border of necrosis.

VEGF

necrosis


Input: We also proved that HIF1 can promote osteosarcoma invasion in hypoxia by inducing VEGF-A expression.

VEGF-A

hypoxia


Input: Median pituitary height at first MRI was 4. 7 mm (range 1. 0-20. 7) and median volume was 127. 6 mm (3) (range 7. 5-3, 087. 0).

MRI

height


Input: The purpose of this article is to further characterize the mutation spectrum of SCCD and identify structural and functional consequences for UBIAD1 protein activity.

SCCD

SCCD


Input: and 58 asymptomatic) and 150 healthy control subjects were examined for TLR4 Asp299Gly and Thr399Ile polymorphisms by means of polymerase chain reaction and restriction fragment-length polymorphism.

asymptomatic


Input: Conversely, conditional gene-targeted Hand2 mice demonstrated a marked resistance to pressure-overload-induced hypertrophy, fibrosis, ventricular dysfunction and induction of a fetal gene program.

hypertrophy


Input: In this review, we discuss the underlying cellular and molecular mechanisms of the anabolic actions of PTH and the similar potential of PTH-related protein (PTHrP) to increase bone mass and improve bone regeneration.

PTH

bone mass


Input: miR-135b coordinates progression of ErbB2-driven mammary carcinomas through suppression of MID1 and MTCH2.

carcinomas


Input: Recently, a specific chromosome abnormality, t (X; 1) (p11; q21), was described for a subgroup of human papillary renal cell carcinomas.

chromosome abnormality


Input: The previously described bladder carcinoma TSU-Pr1 (T24) progression series of cell lines selected in vivo for increasing metastatic ability following systemic seeding was used in this study.

bladder carcinoma


Input: We conclude that expression changes in mitotic arrest deficiency genes (MAD1, MAD2L1, and MAD2L2) play a role in renal carcinogenesis characterized by multiple numerical chromosome abnormalities.

chromosome abnormalities


Input: Moyamoya disease (MMD) is an uncommon cerebrovascular disease characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches.

MMD

cerebrovascular disease


Input: In a genome-wide association scan, the rs738409 C > G single nucleotide polymorphism (SNP) in the patatin-like phospholipase 3 gene (PNPLA3) was strongly associated with increased liver fat but not with insulin resistance estimated from fasting values.

insulin resistance


Input: Thus, TMEM106B is an FTLD-TDP risk gene, with microRNA-132/212 depression as an event which can lead to aberrant overexpression of TMEM106B, which in turn alters progranulin pathways.

progranulin

depression

progranulin

depression


Input: It has been reported that the expression of CUL4A can be induced by hypoxic-ischemic injury.

hypoxic


Input: XBS may prove helpful in the management of asthma, various allergic disorders, sepsis, or any other condition associated with pulmonary inflammation.

XBS

allergic disorders


Input: The rate of pregnancies ending in unexplained fetal loss, early miscarriage, late miscarriage or stillbirth in women with the factor V Leiden was compared with that of women with normal genotype.

factor V Leiden

stillbirth


Input: COX 2 inhibition induced a pro-thrombotic effect that was antagonized by aspirin at 1 mg/kg or 100 mg/kg.

COX 2

thrombotic

COX 2

thrombotic


Input: Thirty-six patients with small-cell lung carcinoma (SCLC) were enrolled onto a three-arm, randomized trial to investigate the effect of r-Hu-EPO on hemoglobin (Hb) levels and RBC and platelet (Plt) transfusions during chemotherapy.

EPO

hemoglobin


Input: We have shown previously that the putative prostate carcinoma cell lines TSU-Pr1 and JCA-1 share a common origin.

prostate carcinoma


Input: PLD-induced HIF-1 activation led to the secretion of vascular endothelial growth factor (VEGF), a HIF-1 target gene involved in tumorigenesis.

tumorigenesis


Input: Using PC-3 and DU145 human prostate cancer cells, we analyzed the role of SAPKs in IL-6 mediated cell growth and found that the p38MAPK and JNK are involved in androgen-independent cancer cell growth.

prostate cancer

prostate cancer


Input: In one family with OSMED, a homozygous Gly--& gt; Arg substitution has been described in COL11A2, which codes for the alpha2 chain of type XI collagen.

OSMED

OSMED


Input: In conclusion, IKZF5 is a novel transcriptional regulator of megakaryopoiesis and the eighth transcription factor associated with dominant thrombocytopenia in humans.

thrombocytopenia

thrombocytopenia


Input: We used phosphorus magnetic resonance spectroscopy to establish whether two of these' secondary' LHON mtDNA mutations, 4216/ND1 and 13708/ND5 (haplogroup J), further affect in vivo mitochondrial oxidative metabolism in subjects with the' primary' 11778/ND4 mtDNA mutation.

secondary


Input: Addiction of pancreatic cancer cells to zinc-finger transcription factor ZIC2.

pancreatic cancer


Input: The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs.

DENN

neurodegeneration


Input: A decrease in MMP-to-TIMP expression in scar tissue may contribute to increased synthesis and deposition of collagen, leading to a severe fibrotic reaction with pathologic scar formation.

TIMP

scar


Input: Pulmonary alveolar proteinosis (PAP) is a rare disorder in which surfactant homeostasis in the lung is impaired, causing respiratory distress and, in severe cases, respiratory failure.

PAP

respiratory distress


Input: The aim of this study was to evaluate the regulation of RKIP and STAT3 after treatment with clinically relevant chemotherapeutic agents (camptothecin (CPT) and oxaliplatin (OXP)) and the cytokine interleukin-6 (IL-6) in HCT116 colon cancer cells as well as evaluate the association between RKIP and STAT3 with clinical outcome of Stage II colon cancer patients.

RKIP

colon cancer


Input: We here show that the Elmo1 hypermorphs have albuminuria, glomerulosclerosis, and changes in the ultrastructure of the glomerular basement membrane that increase in severity in parallel with the expression of Elmo 1.

albuminuria


Input: We investigated the associations of the three LEPR polymorphisms (Lys109Arg, Gln223Arg, 3' UTR Del/Ins) with the conversion to type 2 diabetes and the changes in body weight in 507 individuals with IGT participating in the Finnish Diabetes Prevention Study.

LEPR

body weight


Input: We used immunoblotting techniques and postmortem tissue samples from patients with schizophrenia and from normal control individuals to examine the expression of two major DARPP-32 isoforms, full-length (FL-DARPP) and truncated (t-DARPP), and of CaN in the striatum.

schizophrenia

schizophrenia


Input: Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency.

genomic instability


Input: This study was purposed to explore the feasibility of simultaneous analysis of telomere length and cell surface antigen by multicolor Flow-FISH to assess minimal residual disease (MRD) in leukemia.

FISH

leukemia


Input: We conducted a prospective case-control study, comparing 195 patients presenting with DTC that were previously genotyped for GSTT1, GSTM1, GSTP1, and CYP1A1, comprising 164 papillary carcinomas and 31 follicular carcinomas, with 196 control individuals paired for gender, age, ethnicity, diet routine, lifetime occupational history, smoking history, general health conditions, and previous diseases.

carcinomas


Input: Among 52 tumors assayed for BCL2 rearrangements using the MBR, MCR, and 5' probes, seven (six with MBR and one with MCR translocation breaks) showed aberrant bands in unique enzyme digests of DNA hybridized with the 5' probe.

translocation


Input: Neither t (11; 18) (q21; q21), nor t (1; 14) (p22; q32) or any other translocation involving IGH, BCL10, MALT1, BCL2 and API2, amplification or deletion of chromosomal region 11q21, 18q21, 1p22, and 14q32 was detected.

translocation


Input: Multiple cellular and molecular events were involved in the manifestation of brain defects due primarily to the lack of ogg1.

brain

brain


Input: Conversely, antagonism of miR-34a in diet-induced obese mice restored NAMPT/NAD (+) levels and alleviated steatosis, inflammation, and glucose intolerance.

inflammation

inflammation


Input: The parental mutant H-Ras-modified astrocytes expressed four times more endogenous VEGF than normal human astrocytes, but on intracranial implantation formed hypovascular, hypoxic, small AA-like tumors.

VEGF

hypoxic


Input: We have provided a 20-year follow-up of a syndrome characterized by craniofacial anomalies, hearing loss and hand deformities and which is caused by a PAX3 missense mutation.

craniofacial anomalies

craniofacial anomalies


Input: CARASIL is associated with mutations in the HTRA1 gene.

CARASIL

CARASIL


Input: The induction of HSP70 protein in hippocampus following increasing durations of global ischemia correlates with the regional and cellular vulnerability to ischemia: CA1 neurons express HSP70 after the briefest periods of ischemia followed by CA4, CA3, dentate granule neurons, glia, and lastly, endothelial cells.

ischemia


Input: We describe a novel homozygous mutation, 1191insC, in SLC39A4 in a patient from Sierra Leone and suggest that AE should be considered within the differential diagnosis for acrodermatitis in children from Sierra Leone.

AE

AE


Input: Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities.

Meier-Gorlin syndrome

Meier-Gorlin syndrome


Input: The X-linked bleeding disorder hemophilia A is caused by mutations in the coagulation factor VIII gene.

coagulation factor VIII

hemophilia A

coagulation factor VIII

hemophilia A


Input: Like BRCA1 and BRCA2 mutant breast cancers, these tumors were defective in RAD51 focus formation, reflecting a defect in Palb2 HR-DSBR function, a strongly suspected contributor to Brca1, Brca2, and Palb2 mammary tumor development.

mammary tumor


Input: To examine the predictive role of HLA genetic markers in scleroderma renal crisis (SRC), beyond the known clinical correlates, in a large population of patients with systemic sclerosis (SSc).

SRC

systemic sclerosis


Input: The involvement of nitric oxide in the gastroprotective effect of ACEA (arachidonyl-2-chloroethylamide), a selective cannabinoid CB1 receptor agonist, on aspirin-induced gastric ulceration was studied in rats.

CB1 receptor

gastric ulceration


Input: Here we found a significant association between the GAB2 gene and morphological brain differences in 755 young adult twins (469 females) (M = 23. 1, SD = 3. 1 years), using a gene-based test with principal components regression (PCReg).

GAB2 gene

regression


Input: Protein kinase D1, PKD1, is a novel serine/threonine kinase whose altered expression and dysregulation in many tumors as well as its activation by several mitogens suggest that this protein could regulate proliferation and tumorigenesis.

tumorigenesis


Input: Targeting oncogenic HH/GLI signaling with small molecule inhibitors of the essential pathway effector Smoothened (SMO) has shown remarkable therapeutic effects in patients with advanced and metastatic basal cell carcinoma.

GLI

metastatic basal cell carcinoma


Input: Similarly, inhibition of c-Src activity by PP2 blocked both EGF-induced translocation of SphK1 and PKCdelta to the plasma membrane and up-regulation of PAI-1 expression.

translocation


Input: Furthermore, Th1 transcription factor T-box21 small interfering RNAs conjugated to cationized gelatin showed mitigating effects on alopecia in C3H/HeJ mice, resulting in the restoration of hair shaft elongation.

transcription factor T

alopecia


Input: In mice the targeted disruption of ACE2 resulted in increased systemic angiotensin II levels, impaired cardiac contractility, and upregulation of hypoxia-induced genes in the heart.

hypoxia


Input: Inhibition of rRNA synthetic activity caused either by nutritional starvation or by actinomycin D treatment resulted in a marked decrease in the number and in a significant increase in the size of UBF-positive granules.

UBF

starvation


Input: The objective was to assess the incremental cost-effectiveness per life-month gained of thiopurine methyltransferase (TPMT) genotyping to guide doses of 6-mercaptopurine (6-MP) in children with acute lymphoblastic leukemia (ALL) compared to enzymatic testing and standard weight-based dosing.

TPMT

weight


Input: The RUNX1/ETO (RE) fusion protein, which originates from the t (8; 21) chromosomal rearrangement, is one of the most frequent translocation products found in de novo acute myeloid leukemia (AML).

translocation


Input: None of the analyzed samples revealed a translocation t (14; 18) (q32; q21) in the bcl-2 gene.

bcl-2 gene

translocation


Input: TRF length decreased with a progression of chronic liver diseases and that in HCC was significantly shorter than that in other chronic liver diseases (p < 0. 05).

HCC

liver diseases


Input: Our results suggest that, although there are metabolic impairments in PD, the levels of MCT1, MCT2 and GLUT1 is not changed following dopaminergic neurodegeneration.

neurodegeneration


Input: These data imply that endogenous CNTF plays a pivotal role for the structural maintenance of hippocampal functions and thus has an important impact on the modulation of affective behavior in rodent models of anxiety and depression.

CNTF

depression

CNTF

depression


Input: Bcl-2 and MALT1 genes are located at or near the translocation breakpoints, and the aim of this study was to determine whether these genes were involved in chromosomal translocation or tumorigenesis.

chromosomal translocation


Input: The seizures occurred following the suppression of infantile spasms with adrenocorticotropic hormone therapy and disappeared following the cessation of clonazepam administration.

adrenocorticotropic hormone

seizures

adrenocorticotropic hormone

seizures


Input: We also report a sixth family in which a recurrent TPM3 mutation (p. Arg168His) was associated with histological features of CFTD and nemaline myopathy in different family members.

CFTD

CFTD


Input: Moreover, knockdown of ASK1 or inhibition of the ASK1/MKK4 cascade effectively inhibited cell death following neuronal ischemia.

ischemia


Input: This study aimed to examine the mutations of the three common deafness genes GJB2, SLC26A4, and mtDNA A1555G in Chinese sporadic outpatients with NSHL and to discuss the factors that influence the detection accuracy of mutation frequencies.

sporadic


Input: Pure autosomal dominant spastic paraplegia (SPG) is a genetically heterogeneous neurodegenerative disorder of the central nervous system clinically characterized by progressive spasticity mainly affecting the lower limbs.

SPG

autosomal dominant spastic paraplegia


Input: ] = 14. 19), ADHD and CD (LOD = 5. 34), ODD and CD (LOD = 6. 68), and CD and alcohol abuse/dependence (LOD = 3. 98).

ODD

alcohol abuse


Input: Although rearranged MYC/8q24 (R8q24) is characteristic of Burkitt lymphoma (BL), little information is available on other cytogenetic abnormalities and their prognostic importance.

MYC

cytogenetic abnormalities


Input: It has been suggested that the loss of tight junction function is related to tumor differentiation, but little is known about the roles of major proteins, such as claudin 4 and ZO-1, in gastric cancer.

gastric cancer


Input: Mutations of the DNA mismatch repair (MMR) gene hMLH1 have recently been linked to the development of some hereditary and sporadic cancers which frequently display widespread microsatellite instability (MSI).

MMR

microsatellite instability


Input: Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.

cone-rod dystrophy

cone-rod dystrophy


Input: Using in vitro assays, we show that platelet-derived growth factor alpha (PDGFA) enhances medulloblastoma migration and increases downstream MAP2K1 (MEK1), MAP2K2 (MEK2), MAPK1 (p42 MAPK) and MAPK3 (p44 MAPK) phosphorylation in a dose-dependent manner.

PDGFA

medulloblastoma


Input: Angiogenic factors such as VEGFR2 (vascular endothelial cell growth factor receptor 2), Bcl-2 (a prosurvival and proangiogenic signaling molecule), and chemokine (C-X-C motif) ligand 1 (CXCL1) (a proangiogenic chemokine) may have critical roles in enhancing the establishment of apical periodontitis.

apical periodontitis


Input: In a few patients, KCNJ11 mutations cause a triad of developmental delay, epilepsy, and neonatal diabetes (DEND syndrome).

developmental delay, epilepsy, and neonatal diabetes

developmental delay, epilepsy, and neonatal diabetes


Input: Kaplan-Meier analysis and Cox proportional hazards regression modeling were used to assess the mortality risk associated with the presence or absence of tumor SPARC and peritumoral SPARC status.

SPARC

regression


Input: The bcl-2 oncogene is activated as a consequence of the t (14; 18) chromosomal translocation in human follicular lymphomas.

chromosomal translocation


Input: HNPCC tumors are characterized by microsatellite instability (MSI) due to a defect in mismatch repair (MMR) and carry somatic frameshift mutations in mononucleotide repeats within the coding regions of key genes.

MMR

microsatellite instability


Input: YC-1 inhibits HIF-1alpha expression in hypoxic pancreatic cancer cells, which is accompanied by the translocation of HIF-1alpha from nucleus to cytoplasm, decreased mRNA expression of VEGF and GPI, reduced cell proliferative vitality, and increased apoptosis.

translocation


Input: Our interest was to test polymorphisms of IL-18 for association with a typical TH1-mediated disease--juvenile idiopathic arthritis--and the TH2-mediated disease bronchial asthma in Caucasian children.

bronchial asthma


Input: The expressions of AGK protein and mRNA were significantly up-regulated in cervical cancer cell lines and cancer tissues.

AGK

cervical cancer


Input: Ero1-L alpha plays a key role in a HIF-1-mediated pathway to improve disulfide bond formation and VEGF secretion under hypoxia: implication for cancer.

VEGF

hypoxia


Input: The expression of the transcription factors CREB and ATF-1 is upregulated in metastatic melanoma cells.

CREB

metastatic melanoma


Input: Western blot analysis showed that rosuvastatin could change the cytokine expressions in the peri-infarction region by upregulating the SDF-1 expression and downregulating the expressions of CXCR-4, ICAM-1, and VEGF in 4 to 14 days after AMI.

VEGF

infarction


Input: [Combination therapy with 5-fluorouracil (5-FU), cisplatin (CDDP) and interferon alpha-2B (IFN alpha-2B) for advanced renal cell carcinoma].

interferon alpha-2B

renal cell carcinoma

interferon alpha-2B

renal cell carcinoma


Input: Ten ovarian cancer cell lines were analyzed by methylation-specific PCR, and seven (GPR150, LOC222171, PRTFDC1, LOC339210, ITGA8, C9orf64 and HOXD11) of the 33 CGIs were methylated in one or more of the cell lines.

ovarian cancer

ovarian cancer


Input: Here, we report two families with extreme microcephaly and grossly simplified cortical gyral structure, a condition referred to as microlissencephaly, and show that they carry homozygous frameshift mutations in NDE1, which encodes a multidomain protein that localizes to the centrosome and mitotic spindle poles.

microlissencephaly

microlissencephaly


Input: In addition, a common non-sense mutation in PVRL1 was discovered more often among non-syndromic sporadic clefting cases in Northern Venezuela in a previous case-control study.

sporadic


Input: We have analysed this CAG repeat sequence in a large number of patients with typical sporadic ALS and in normal controls, in order to test the hypothesis that this polymorphism of the androgen receptor gene may influence susceptibility for ALS.

androgen receptor gene

sporadic


Input: The N251K functional polymorphism in the alpha (2A)-adrenoceptor gene is not associated with depression: a study in suicide completers.

alpha (2A)-adrenoceptor

depression

alpha (2A)-adrenoceptor

depression


Input: Epo production induced by hypoxia of HIV-1 infected Hep3B cells was depressed compared with non-HIV containing Hep3B cells when normalized for cell number, total cellular protein or albumin, but not depressed when normalized for alpha-fetoprotein production.

alpha-fetoprotein

hypoxia


Input: In this study we investigated whether partial or total MASP-2 deficiencies resulting from Asp105Gly mutation are associated with rheumatic fever (RF) and chronic rheumatic heart disease (RHD).

MASP

chronic rheumatic heart disease


Input: We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP).

AFP

axonal sensorimotor neuropathy


Input: Moyamoya disease (MMD) is an uncommon cerebrovascular disorder characterized by progressive occlusion of the internal carotid artery causing cerebral ischemia and hemorrhage.

MMD

cerebrovascular disorder


Input: Taken together, mammary tumor cell invasiveness was stimulated by TNF-α induced activation of Hh signaling; these effects were abrogated by daidzein, which suppressed Gli1 activation, thereby inhibiting migration and invasion.

TNF-α

mammary tumor


Input: A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonyl-CoA carboxylase deficiency


Input: In order to detect the contribution of cytochrome P450 1A1 (CYP1A1), aryl hydrocarbon receptor (AhR), glutathione S-transferases M1 (GSTM1), P1 (GSTP1), and T1 (GSTT1) genes in breast cancer, genetic analysis was performed, as well as transcriptional analysis in sporadic primary tumours and corresponding adjacent normal tissues from the same patient.

sporadic


Input: After adjusting for age, height, weight, exercise, smoking, calcium and alcohol intake, BMC, scan area and BMD at all measurement sites were similar for the different XbaI and PvuII genotypes of the ER and independent of the number of the CAG repeats of the AR gene.

AR gene

weight


Input: CUGBP2, a translation inhibitor, induces colon cancer cells to undergo apoptosis.

colon cancer


Input: In the absence of functional pVHL, a series of proteins accumulate in the cells, including hypoxic-inducible factor-1a (HIF-1a) and the products of the target genes of pVHL, such as vascular endothelial growth factor (VEGF).

VEGF

hypoxic


Input: In conclusion, CHFR is frequently inactivated in acute leukemia and is a good candidate for the leukemia supper gene.

CHFR

leukemia


Input: Finally, we found that FPR2 gene expression was increased approximately sixfold in the colon of patients with Crohn' s disease, a finding reproduced in vitro by the treatment of THP-1 cells with interferon-& #947; or lipopolysaccharide.

Crohn' s disease

Crohn' s disease


Input: Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.

porcelain nails

porcelain nails


Input: Collective results imply a unified molecular mechanism for repair-independent functions of FA, RAD51, and BRCA1/2 proteins in preventing genomic instability and suppressing tumorigenesis.

genomic instability


Input: CHD7 mutations can be present in KS patients who have additional features that are part of the CHARGE syndrome phenotype.

CHARGE syndrome

CHARGE syndrome


Input: Our findings demonstrate that the prolactin receptor is present in macrophages of the atherosclerotic plaque at sites of most prominent inflammation.

prolactin receptor

inflammation


Input: Expression of EPB41L1, EPB41L2, EPB41L3 (protein: 4. 1B), EPB41L4B (EHM2), EPB41L5, EPB49 (dematin), VIL2 (ezrin), and DLG1 (summarized as " cortical cytoskeleton " genes) as well as ERG was measured by quantitative RT-PCR in a well-characterized set of 45 M0 prostate adenocarcinoma and 13 benign tissues.

prostate adenocarcinoma


Input: Main outcome measures were whole body dual x-ray emission absorptiometry at 9 yr to estimate height-corrected fat mass index (FMI), truncal FMI, and fat-free mass, and insulin secretion after oral glucose at 8 yr. Homozygous III/III children had higher BMI (P = 0. 020), FMI (P = 0. 015), and truncal FMI (P = 0. 022) at 9 yr than class I bearers, but no difference in fat-free mass (P = 0. 23).

FMI

height


Input: Expression of MyoD1 and myogenin mRNA was examined by RT-PCR in RMSs (9 alveolar RMS, 10 embryonal RMS, 1 pleomorphic RMS), and 21 other paediatric tumor samples (10 neuroblastoma, 10 Ewing sarcomas, and 1 Sarcoma (not otherwise specified) (S (NOS)).

neuroblastoma


Input: We found that pretreatment of cholecystokinin-8 (CCK-8) inhibited METH-induced brain cellular dopaminergic (DA) damage in the striatum and substantia nigra, and related behavioural deficits and hyperthermia.

cholecystokinin

hyperthermia

cholecystokinin

hyperthermia


Input: Such an effect on structures of such central importance in a broad range of cellular functions is thought to explain NAP' s activity in wide ranging models of cellular damage and neurodegeneration.

NAP' s

neurodegeneration


Input: No association was found, thus adding weight to the evidence that there are no alterations in the POMC gene in schizophrenia and bipolar illness.

POMC

bipolar illness

POMC

bipolar illness


Input: We further established that miR-191 is a critical regulator of transforming growth factor beta (TGFβ)-signaling and promotes cell migration by inducing TGFβ2 expression under hypoxia through direct binding and indirectly by regulating levels of a RNA binding protein, human antigen R (HuR).

TGFβ

hypoxia


Input: We previously mapped a novel autosomal dominant deafness locus, DFNA44, by studying a family with postlingual, progressive, nonsyndromic hearing loss.

nonsyndromic hearing loss

nonsyndromic hearing loss


Input: Molecular studies performed in primary endothelial cells overexpressing IFI16 demonstrated that it may be involved in the early steps of inflammation by modulating endothelial cell function, such as expression of adhesion molecules and chemokine production, cell growth, and apoptosis.

inflammation


Input: We demonstrate here that tumor-producing TGF-β1 induces vascular endothelial growth factor (VEGF) in prostate cancer cells, and hypoxia-inducible factor (HIF)-1α and HIF-2α has opposite functions in TGF-β1 regulation of VEGF expression under non-hypoxic conditions.

VEGF

hypoxic


Input: In a patient with mild HA we detected a duplication of exon 13, which is a rearrangement not yet described within the FVIII gene.

FVIII

HA

FVIII

HA


Input: The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.

PAH

phenylketonuria

PAH

phenylketonuria


Input: Here, the role of NK-1 receptor expressing cells in the spinal dorsal horn in morphine-induced hyperalgesia and spinal antinociceptive tolerance was assessed by ablating these cells with intrathecal injection of SP-saporin (SP-SAP).

NK-1 receptor

hyperalgesia

NK-1 receptor

hyperalgesia


Input: Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene.

coagulation factor VIII

Haemophilia A

coagulation factor VIII

Haemophilia A


Input: This finding could be due to chronic infection with virus persistence in the lower respiratory tract, also in the absence of symptoms unequivocally attributable to B19.

absence of symptoms


Input: We detail the existence of a plethora of complex splicing events and alternative poly (A) use and provide data that explain the discrepancies reported to date regarding the autoregulatory capacity of TDP-43.

plethora


Input: Factors predisposing to coma and delirium: fentanyl and midazolam exposure; CYP3A5, ABCB1, and ABCG2 genetic polymorphisms; and inflammatory factors.

coma


Input: Studies on primary rodent Sertoli cells and germ cells, as well as testes from CFTR knockout mice or a cryptorchidism model, yield findings indicating the involvement of CFTR in spermatogensis through the HCO (3) (-)/sAC/cAMP/CREB (CREM) pathway and the NF-κB/COX-2/PGE (2) pathway.

NF-κB

cryptorchidism


Input: Three stages of cytokine mRNA expression could be distinguished: (i) interleukin (IL)-12, tumor necrosis factor (TNF)-beta (= lymphotoxin-alpha) and cytolysin appeared early and before onset of clinical signs of EAE; (ii) TNF-alpha peaked at height of clinical signs of EAE; (iii) IL-10 appeared increasingly at and after clinical recovery.

TNF-alpha

height


Input: There was an increase in Mn-and Cu-Zn-SOD activity in SAH, MV, M, and Turner' s syndrome.

SOD

Turner' s syndrome

SOD

Turner' s syndrome


Input: IFN was effective in controlling purpura (80%) but was moderately effective on severe haematuria/proteinuria, renal insufficiency and neuropathy.

IFN

haematuria


Input: Finally, SGTA knockdown induced adhesion-mediated drug resistance.

SGTA

adhesion


Input: Age at diagnosis, penetrance, and clinical complications were analyzed for medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism (HPT), as well as overall survival.

HPT

pheochromocytoma


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

VEGF

necrosis


Input: A variety of previously unreported mutations in the coding region of the CHST6 gene are associated with type I MCD in a cohort of patients in southern India.

MCD

MCD


Input: In this study, we have demonstrated that hormone-sensitive lipase (HSL) mRNA is expressed at very low levels in macrophage-derived foam cells, using the unique approach of extracting mRNA from macrophage-derived foam cells purified from human and rabbit atherosclerotic plaques coupled with reverse transcriptase polymerase chain reaction (RT-PCR).

HSL

foam cells


Input: ] on estrogen replacement therapy [ERT]), we assessed whether ERT-mediated thrombophilia and heritable thrombophilia (20210 G--> A prothrombin gene [PTG], Factor V Leiden gene mutation [FV]) interacted as risk factors for atherothrombotic cardiovascular disease (ATCVD).

PTG

cardiovascular disease


Input: We report transiently increased retinal levels of BDNF, NT3, p75 (NTR), FGFR1 and HGFR and decreased levels of FGF9, HGF, TrkB, TrkC, FGFR4 and Thy1 following ischemia.

HGF

ischemia


Input: The development of colonic inflammation in IL-10 (-/-) mice was accompanied by upregulation in the expression of 10 miRNAs (miR-19a, miR-21, miR-31, miR-101, miR-223, miR-326, miR-142-3p, miR-142-5p, miR-146a, and miR-155).

inflammation


Input: The addition of pentosan polysulphate sodium (NaPPS) to thrombogenic prothrombin complex concentrates (PCC) dose-dependently reduces or abolishes thrombus formation in rats in the stasis model acc. to Wessler.

prothrombin

thrombus

prothrombin

thrombus


Input: Conversely, there is no evidence from this study that rare PALB2 missense mutations strongly influence breast cancer risk.

breast cancer

breast cancer


Input: The mammalian target of rapamycin complex 1 (mTORC1) pathway has been recently implicated in such function, due to its ability to integrate nutrient and hormonal signals to control food intake and body weight.

body weight


Input: The next best SNP was rs12201676 located at 6q15 (p = 2. 67 & #215; 10 (-4), 2. 12 & #215; 10 (-5), 3. 88 & #215; 10 (-8) for schizophrenia, bipolar disorder and meta-analysis, respectively), near two flanking genes, GABRR1 and GABRR2 (15 and 17kb away, respectively).

bipolar disorder

bipolar disorder


Input: While HSP70-1 expression constantly increased (up to 4-fold) during reperfusion, even to a higher extent with prolongation of ischemia, HSP70-2 mRNA-which was generally expressed at a far lower level than HSP70-1 mRNA-was strongly induced (3-fold) during reperfusion only after brief periods (10 min) of ischemia.

ischemia


Input: The translocation results in the juxtaposition of the bcl-2 gene on chromosome 18 with the immunoglobulin heavy chain joining region on chromosome 14.

bcl-2 gene

translocation


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: Stable expression of Testisin in the Testisin-negative Tera-2 testicular cancer line suppressed tumorigenicity as revealed by inhibition of both anchorage-dependent cell growth and tumour formation in an SCID mouse model of testicular tumorigenesis.

Testisin

tumorigenesis


Input: The phenotypes included were systolic and diastolic blood pressure (SBP and DBP), body mass index (BMI), waist-to-hip ratio (WHR), plasma renin activity (PRA), plasma aldosterone concentration (PAC), plasma brain natriuretic peptide (BNP) concentration and alcohol consumption (AC).

PRA

alcohol consumption


Input: Two SNPs in Intron 1 of MTNR1A were significantly associated with calcium nephrolithiasis: rs13140012 (P = 0. 0004) and rs6553010 (P = 0. 009).

calcium nephrolithiasis


Input: These findings implicate the loss of caspase-1 protein as a potential step in the loss of apoptotic control during prostate tumorigenesis.

tumorigenesis


Input: Down-regulation of the co-stimulatory molecules CD70 (TNFSF7) and CD80 may contribute to tumor cell survival; however, the mechanism of down-regulation of the TNFSF7 gene during tumorigenesis is poorly understood.

tumorigenesis


Input: The histological findings and the expression of TPM3-ALK fusion gene confirmed a diagnosis of an inflammatory myofibroblastic tumor.

ALK

inflammatory myofibroblastic tumor

ALK

inflammatory myofibroblastic tumor


Input: Sex and age modified the pattern of concordance of high IgE levels, SPT positivity, and eosinophilia among asthmatic cases, with the greatest overlap in male children (64%) and the lowest in male adults (18%).

SPT

eosinophilia


Input: Prospectively collected cremaster muscle and/or hernia sac tissues from boys with congenital (79) or acquired (66) nonsyndromic cryptorchidism and hernia/hydrocele (controls, 84) were analyzed for hormone receptor (RXFP2, AR, ESR1, ESR2) and myosin heavy chain specific (MYH1, MYH2, MYH7) mRNA expression using real-time reverse transcriptase polymerase chain reaction.

cryptorchidism


Input: We report that a subset of UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repeats and immunoglobulin-like domains 2, a protein implicated in neural cell signaling and tumorigenesis.

tumorigenesis


Input: Consequently, Smad4 mono-ubiquitination and nuclear export are favoured and thus TGF-β1-Smad4 pro-fibrotic activity is inhibited.

mono


Input: We sequenced the genes encoding superoxide dismutase (SOD1), TAR DNA-binding protein 43 (TARDBP) and FUS in 99 sporadic and 17 familial ALS patients ascertained at Mayo Clinic.

FUS

sporadic


Input: Impaired migration of these cells was associated with failure of uropod retraction likely due to altered contractility and adhesion, evidenced by reduced expression of the myosin light chain 9 (MYL9) component of myosin II complex and overexpression of CD11b integrin.

adhesion


Input: Expression of MLH1, MSH2, PMS1 and PMS2 was investigated immunohistochemically in 31 melanoma metastatic tumors.

melanoma metastatic


Input: Role of the PI3K/Akt, mTOR, and STK11/LKB1 pathways in the tumorigenesis of sclerosing hemangioma of the lung.

tumorigenesis


Input: Reduced bone resorption occurs due to faulty activity of the sclerostin molecule, a product of the recently discovered SOST gene in chromosome 17.

SOST gene

bone resorption


Input: An association among the Thr92Ala DIO2 variant and type 2 diabetes, indices of insulin resistance (HOMA-IR), insulin secretion, free thyroid hormones, and thyrotropin (TSH) was found.

insulin resistance


Input: Fifty-four pancreatic adenocarcinomas, 13 intraductal papillary mucinous neoplasms, and 6 chronic pancreatitis cases were stained with antibodies against enhancer of zeste homologue 2 and E-cadherin.

E-cadherin

chronic pancreatitis


Input: These data suggest that in the absence of the serine protease inhibitor spink5, there is an abnormal increase in the processing of profilaggrin, resulting in an overabundance of filaggrin monomers, and that this may play a direct role in the observed deficit in the adhesion of the stratum corneum and the severely compromised epidermal barrier function.

filaggrin

adhesion


Input: They presented common features associated to patients affected by SMBA, such as gynecomastia, high level of CPK, muscle cramps, fasciculations, muscle wastage, and impaired swallowing.

CPK

impaired swallowing


Input: Variability of thrombotic disease among individuals homozygous for factor V Leiden has been described.

factor V Leiden

thrombotic

factor V Leiden

thrombotic


Input: The expression levels of hPER1, hPER2, hPER3, hCRY1, hCRY2 and hBMAL1 were significantly impaired in both chronic phase and blastic crisis of CML cases compared with those in healthy individuals (P & lt; 0. 001).

CML

CML


Input: Platelet beta3-integrin deficiency was sufficient to disrupt hemostasis but had no effect on bone mass or tumor growth.

bone mass


Input: Newly ascertained familial and sporadic LTE patients were clinically investigated, and interictal EEG and MRI findings were obtained; probands were tested for LGI1 mutations by direct exon sequencing or denaturing high performance liquid chromatography.

sporadic


Input: These results indicate that the inhibition of EP300 might be a common therapeutic mechanism between CR and RSV in adipose tissues of obese individuals.

obese

obese


Input: The bcl-2 oncogene was originally found in the translocation in a pre-B cell acute lymphocytic leukemia cell line.

translocation


Input: We studied 11 unrelated individuals with sclerosing bone disorders where LEMD3 mutation was a potential etiology: familial OPK (1), familial BOS (2), previously reported familial OPK with MEL (1), sporadic MEL (3), sporadic MEL with mixed-sclerosing-bone dystrophy (1), and patients with other unusual sclerosing bone disorders (3).

mixed-sclerosing-bone dystrophy

mixed-sclerosing-bone dystrophy


Input: Furthermore, EPCs exposed to either short-or long-term BMP9 stimulation demonstrated these functions in EPC-mediated neovascularization.

neovascularization


Input: These results illuminate a novel mechanistic pathway linking hemolysis and erythroid hyperplasia to increased PlGF, endothelin-1, and pulmonary hypertension in SCD, and suggest that strategies that block PlGF signaling may be therapeutically beneficial.

PlGF

pulmonary hypertension


Input: Mutation of a single allele of the cancer susceptibility gene BRCA1 leads to genomic instability in human breast epithelial cells.

genomic instability


Input: A nonsignificant increased risk of thyroid carcinoma was observed in individuals lacking either GSTM1 (OR, 2. 9; 95% CI, 0. 8-10. 9) or GSTT1 (OR, 3. 7; 95% CI, 0. 6-23. 5).

carcinoma


Input: TRKA, a receptor tyrosine kinase cloned from a human colon cancer was later found to be expressed in the nervous system and phosphorylated in response to NGF.

TRKA

nervous system


Input: Forty-five women with adverse pregnancy outcome defined as severe pre-eclampsia, abruptio placentae, intrauterine growth restriction and stillbirth, were tested for factor V Leiden and prothrombin G20210A mutations.

factor V Leiden

stillbirth


Input: Thus, SLIT2 may be useful as a therapeutic target in the treatment of HCC.

HCC

HCC


Input: The present study aimed to assess the impact of smoking and sex for the risk of non-small-cell lung cancer (NSCLC) with or without epidermal growth factor receptor (EGFR) mutation.

EGFR

smoking


Input: We conclude that molecular genetic analysis of the GFAP gene is feasible for antemortem diagnosis of Alexander disease in Japanese patients.

GFAP

Alexander disease

GFAP

Alexander disease


Input: We show here that AID acts promiscuously, generating widespread DNA double-strand breaks (DSBs), genomic instability and cytotoxicity in B cells with less homologous recombination ability.

AID

genomic instability


Input: As an intervention with ER stress responses in the intestinal cancer cells, preventive exposure to flavone apigenin potentiated superinduction of a regulatory transcription factor, activating transcription factor 3 (ATF3), which is also known to be an integral player coordinating ER stress response-related gene expression.

transcription factor 3

intestinal cancer


Input: The primary skin lesion scores were identical in severity and kinetics, and there were no differences in viral load at dorsal root ganglionic (DRG) neurons at day 4 postinfection (p. i.)

DRG

skin lesion


Input: Nebula/DSCR1 upregulation delays neurodegeneration and protects against APP-induced axonal transport defects by restoring calcineurin and GSK-3β signaling.

neurodegeneration


Input: Genetic alterations in the dopaminergic system are frequently observed in association with attention deficit hyperactivity disorder (ADHD) and a 40 bp variable number of tandem repeats (VNTR) in the 3'-untranslated region (3'-UTR) of the dopamine transporter gene (DAT1) has been investigated in different populations.

UTR

attention deficit hyperactivity disorder


Input: More recently, erythrocytosis patients with heterozygous point mutations in the HIF2A gene have been identified; whether these mutations were polymorphisms unrelated to the phenotype could not be ruled out.

erythrocytosis


Input: Sirtuin 1 (SIRT1), a class III histone deacetylase (HDAC), has been reported to have the function of antiatherosclerosis, but its role in neointima formation remains unknown.

neointima formation


Input: On initiation of apoptosis or necrosis, p43 was cleaved by calpains and released as truncated protein p43 (apoptosis-released factor [ARF]).

ARF

necrosis


Input: Modification of ORs for smoking by single and combined NER genotypes was investigated.

NER

smoking


Input: These results suggest that the p53 codon 72 PRO/PRO genotype is potentially associated with early paracentral visual field defects in primary open-angle glaucoma patients.

visual field defects


Input: In addition, there is coordinated loss of both HOXA5 and RARbeta expression during neoplastic transformation and progression in the breast epithelial cell model, MCF10A.

neoplastic transformation


Input: Herein we report that inhibition of the polyol pathway enzyme aldose reductase (AR) prevents the increase in ICAM-1 and VCAM-1 in human umbilical vein endothelial cells (HUVECs) and decreases monocyte adhesion to these cells.

aldose reductase

adhesion


Input: To better elucidate the pathogenesis of lymphocyte recruitment of memory CD4 (+) T cells in inflammatory myopathies, we studied the expression of CCR5 and CCR7 on CD4 memory T cells in muscle tissue from 11 patients with juvenile dermatomyositis, six adult patients with polymyositis, two patients with Duchenne muscular dystrophy, and two patients with spinal muscular atrophy.

juvenile dermatomyositis


Input: To assess the functional significance of phospholipid hydroperoxidase glutathione peroxidase (PHGPx) under cryptorchidism, PHGPx expression was spatiotemporally analyzed in testes and epididymis excised at 1, 4, 7, 14, 21, and 28 days after experimental bilateral cryptorchidism in adult mice.

phospholipid hydroperoxidase

cryptorchidism

phospholipid hydroperoxidase

cryptorchidism


Input: This adenovirus-mediated LIGHT therapy induced substantial splenic natural killer (NK) and cytotoxic T lymphocyte (CTL) activity, enhanced tumor infiltration by inflammatory cells and increased chemokine expression of CC chemokine ligand 21 (CCL21), IFN-inducible protein-10 (IP-10) and monokine induced by IFN-gamma (Mig) from tumor tissues.

adenovirus


Input: That VHL 598C > T homozygosity causes elevated normoxic levels of the transcription factor hypoxia inducible factor-1alpha (HIF-1alpha), serum erythropoietin and hemoglobin is known, but the disease phenotype has not been documented in a controlled manner.

hemoglobin


Input: By using interphase fluorescent in situ hybridization methodology, we analyzed PLCB1 gene, which codifies for the PI-PLC & #946; 1 enzyme, in paraffin embedded samples of orbito-frontal cortex of 15 patients affected with major depression and in 15 normal controls.

major depression

major depression


Input: TSA treatment did not alter the DNA-binding activity of Sp1 toward the P-Rex1 promoter; however, it facilitated the dissociation of the repressive HDAC1 and HDAC2 from the Sp1 binding region.

dissociation


Input: The 4 patients had the PRKAR1A deletion that has been associated with the isolated form of primary pigmented nodular adrenocortical disease.

primary pigmented nodular adrenocortical disease

primary pigmented nodular adrenocortical disease


Input: In contrast, inhibition of the constitutive NF-kappaB in HSC-2 cells by adenovirus-mediated gene transfer of a dominant-negative IkappaBalpha suppressed the IFNgamma-induced expression of the CXCL9 and CXCL10 mRNAs.

adenovirus


Input: Both CA9 and CA12 were strongly induced by hypoxia in a range of tumor cell lines.

hypoxia


Input: Deletion analysis of the human VEGF 5' flanking region-2018 and + 50 demonstrated induction of VEGF promoter activity under hypoxic conditions which was significantly decreased following deletion of the region-1286 and-789 suggesting a substantial contribution of the-975 putative hypoxia inducible factor 1 binding site to hypoxia mediated transcriptional activation of the VEGF gene.

VEGF

hypoxia


Input: These included the chemokines Cxcl9, Ccl12, Ccl8, Ccrl2, Cxcl10 and Ccl5, adhesion molecules Cd40, Cd74, and antiviral and antibacterial genes Rsad2, Mx1, Oasl1, Gbp5, Nos2, Batf2 and Tnfrsf11a.

adhesion


Input: We addressed the expression of Fas, DR4, and DR5 in thyroid carcinoma cell lines and in 31 thyroid carcinoma specimens by Western blot analysis and immunohistochemistry, respectively, and tested the sensitivity of thyroid carcinoma cell lines to Fas-and TRAIL-induced apoptosis.

thyroid carcinoma


Input: Together, interleukin-1beta and amyloid beta42 peptide [IL-1beta + Abeta42] synergistically activated COX-2 and PS1 gene expression preceded by increases in AP1-, STAT1alpha-, and in particular NF-kappaBp50/p65-and HIF-1alpha-DNA binding.

amyloid


Input: The Bcl-x, Mcl-1, Bad, and Bax proteins were also expressed in all CTCL skin lesions tested.

Bax

CTCL

Bax

CTCL


Input: These results strongly suggest that HBx may play a critical role in the hypoxia-induced angiogenesis through transcriptional activation of VEGF during hepatocarcinogenesis.

VEGF

hypoxia


Input: Endothelial cell OPG mRNA levels were regulated by TNF-alpha and VEGF, but not by hypoxia.

VEGF

hypoxia


Input: We investigated a series of patients with locally diagnosed anaplastic oligodendroglial tumors included in the EORTC phase III trial 26951 on procarbazine/lomustine/vincristine (PCV) chemotherapy to explore the diagnostic, prognostic, and predictive value of targeted next-generation sequencing (NGS) in diffuse glioma and to assess the prognostic impact of FUBP1 and CIC mutations.

CIC

diffuse glioma


Input: Loss of CHFR in human mammary epithelial cells causes genomic instability by disrupting the mitotic spindle assembly checkpoint.

CHFR

genomic instability


Input: In patients suffering from schizophrenia we found ALDH1 expression at normal levels in DA cells of SN but at significantly reduced levels in those of the VTA.

schizophrenia

schizophrenia


Input: Our data establish YB-1 as a critical regulator of hypoxia-inducible factor 1α (HIF1α) expression in sarcoma cells.

sarcoma


Input: The χ2 test, ANOVA, nonparametric tests and logistic regression were used to investigate the relationship between the c. 3321delA genotype and atopic dermatitis clinical phenotypes in the Chinese Han population.

ANOVA

atopic dermatitis


Input: In LPK rats, tempol treatment reduced immunofluorescence for 3-nitrotyrosine and HIF1A mRNA while upregulating VEGF and p47phox mRNA expression, but otherwise had little impact on disease progression, renal tissue hypoxia or hypertension.

VEGF

hypoxia


Input: Multiple regression analyses confirmed chemerin as the strongest predictor of ICAM-1 and E-selectin independent of body mass index sd score.

chemerin

body mass index


Input: There was no somatic mutation of BAD gene in the 60 gastric cancer samples.

BAD gene

somatic mutation


Input: These results strongly suggest that, as opposed to distinct KIR expressed by CTL, the in vitro KIR3DL2/p140 engagement does not result into inhibitory (nor activatory) effects on tumor-specific CTL.

tumor


Input: In contrast, the neointima formation, proliferating cell nuclear antigen-positive cells, and phospho-epidermal growth factor receptor-positive cells were markedly enhanced by wild-type ADAM17 adenovirus.

neointima formation


Input: The ADH1C * 2/* 2/MTHFR 677TT genotype combination showed the maximum risk (odds ratio 20; 95% CI = 13. 45-26. 64) in the heavy drinker group.

MTHFR

heavy drinker

MTHFR

heavy drinker


Input: DNA vaccines encoding xenogeneic differentiation antigens, such as tyrosinase (TYR), mediate tumor protection and regression in implantable mouse models, and dogs with spontaneous melanoma.

TYR

regression


Input: Human U87 gliomas were implanted in the brain of adult scid mice, and weekly i. v.

gliomas


Input: First, at nuclear envelope breakdown, Cdk1 triggers the translocation of STIL from centrosomes to the cytoplasm.

translocation


Input: Further, we monitored microvascular density, tumor hypoxic fraction, and collagen covered tumor vessels at three different time points following the treatment of rh-endostatin, as well as the transcription of angiogenesis related factors (vascular endothelial growth factor-A and thrombospondin-1) and vasculature markers (regulator of G-protein signaling 5 and platelet/endothelial cell adhesion molecule-1).

endothelial cell adhesion molecule

hypoxic


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.

brachycephaly


Input: Keratosis Follicularis Spinulosa Decalvans (KFSD) is a rare genetic disorder characterized by development of hyperkeratotic follicular papules on the scalp followed by progressive alopecia of the scalp, eyelashes, and eyebrows.

Keratosis Follicularis Spinulosa Decalvans

KFSD

Keratosis Follicularis Spinulosa Decalvans

KFSD


Input: The present study examines the role of ALDH1B1 in colon tumorigenesis and signalling pathways mediating its effects.

tumorigenesis


Input: This study shows that the IL-6-174G > C variant is independently associated with carotid plaque formation in the whole population and an increased carotid IMT in older subjects within a randomly selected, cross-sectional Australian population.

plaque


Input: The results suggested that JNK-AP1 signaling pathway is responsible for Abeta-induced neuroinflammation in HBEC and Alzheimer' s brain and that this signaling pathway may serve as a therapeutic target for relieving Abeta-induced inflammation.

inflammation


Input: Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.

Wiskott-Aldrich syndrome protein

Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome protein

Wiskott-Aldrich syndrome


Input: Here we describe a new case of Sotos syndrome with a 5q35 microdeletion, affecting the fibroblast growth factor receptor 4 (FGFR4) gene, presenting with infantile hypercalcemia.

infantile hypercalcemia


Input: Some studies show that a catechol-O-methyltransferase (COMT) polymorphism affecting enzyme activity was associated with personality characteristics and diseases, such as novelty-seeking personality, substance abuse, and heroin addiction, whose features are similar to ADHD or are associated with ADHD.

COMT

personality characteristics


Input: The molecular characteristics of HERV-W env also differ from what was observed in Multiple Sclerosis (MS) and may represent distinct features of the genome of patients with BD and SZ.

HERV-W env

SZ

HERV-W env

SZ


Input: Therefore, this in vivo study shows that the expression of cyclin A RNA and protein in human hematological malignancies correlates with the percentage of cells in S plus G2-M phase and identifies cyclin A as a new potential cell proliferation index in oncology.

cyclin A

hematological malignancies


Input: At the age of 20 months, the boy presented with a severe complication with a translocation of Escherichia coli and developed sepsis leading to severe hypoxic-ischemic encephalopathy with persistent vegetative state (PVS).

PVS

translocation


Input: All of the abnormalities due to MSH2 and PMS2 were detected by the screening algorithm, but 1 of the 4 MSH6 cases was not.

abnormalities


Input: Also, translocation of p53 to the nuclei and expression of the pro-apoptotic protein PUMA (Bcl2 binding component 3) was observed after induction of FDH expression.

Bcl2 binding component 3

translocation


Input: Juvenile Batten disease should be considered in children with a retinal dystrophy, especially where there is a bull' s eye maculopathy and an abnormal full field ERG.

ERG

bull' s eye maculopathy


Input: All patients stopped ERT and received mild chemotherapy before infusion of gene-modified cells.

ERT

mild


Input: Some sporadic colon cancers and hereditary nonpolyposis colorectal cancer (HNPCC) have been known by a constitutional defect in mismatch gene repair (MMR) and dysfunction in of this MMR system, which lead to an aberrant phenotype that can cause microsatellite instability.

MMR

microsatellite instability


Input: A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.

Postaxial Polydactyly

Postaxial Polydactyly


Input: We demonstrate that cisplatin and doxorubicin abolish hypoxia-induced VEGF mRNA expression in all cell lines, while basal VEGF mRNA expression was also downregulated.

VEGF

hypoxia


Input: Moreover, tissue expression of RAGE was analyzed using immunohistochemistry on two independent tissue microarrays (TMA) containing 35 or 257 primary melanomas, and 41 or 22 benign nevi, respectively.

RAGE

nevi


Input: To gain insight into the differential mechanism of gene promoter hypermethylation in acute and chronic leukemia, we identified the methylation status on one part of 5' CpG rich region of 8 genes, DAB2IP, DLC-1, H-cadherin, ID4, Integrin alpha4, RUNX3, SFRP1, and SHP1 in bone marrows from acute myeloid leukemia (AML) and chronic myeloid leukemia (CML) patients.

chronic leukemia


Input: Human diffuse large B-cell lymphomas (DLBCLs) often aberrantly express oncogenes that generally contain complex secondary structures in their 5' untranslated region (UTR).

UTR

secondary


Input: After adjusting for hypertension, diabetes, hypertriglyceridemia, and hypercholesterolemia, MMP2-1306 T allele carriers (CT + TT) also had a significantly increased risk of RVO (B = 1. 453; p < 0. 001; odds ratio = 4. 275; 95% CI: 2. 529-7. 224).

hypertriglyceridemia


Input: The increase in pulmonary microvascular leakage after reperfusion was also prevented by GTN: BAL protein without GTN was 992 micrograms ml-1 and with GTN 579 micrograms ml-1; BAL neutrophil count without GTN was 3219 cells mm-3 and with GTN 820 cells mm-3; the wet: dry lung weight ratio without GTN was 3. 8 and with GTN 3. 3.

weight


Input: These results suggest that the clinical data linking IGFBP-2 expression to poor prognosis may arise, at least in part, because high levels of IGFBP-2 expression correlate with loss of function of PTEN, which is well known to lead to aggressive behavior of gliomas.

PTEN

aggressive behavior


Input: In hypoxia conditions, VEGF expression level in Hep3B cell was suppressed, while that in SNU387 cell was increased by NS-398 (P < 0. 001).

VEGF

hypoxia