Input: The gene delivery of TRX, which plays a central role in intracellular redox control, was shown to be effective in protecting the liver against oxidative stress-induced injury.

TRX

liver

TRX

liver


Input: Genotyped and determined 5-HT (1A) binding potential (BP) by positron emission tomography (PET) using [carbonyl-C-11]-WAY-100635 in 28 medication-free MDD subjects during a current major depressive episode and 43 controls.

5-HT (1A

major depressive episode

5-HT (1A

major depressive episode


Input: To examine the hypothesis that abnormal cell-cycle regulators act as the mutators contributing to genomic instability, the present study, based on primary tumor tissues from 71 patients with breast cancer, was performed to determine whether there was an association between aberrant expression of cell-cycle regulators (cyclin A, cyclin D1, cyclin E, RB1, p21, and p27) and chromosomal instability.

cyclin E

genomic instability


Input: IGF2 gene variants have shown a strong association with weight, body mass index (BMI), and metabolic profile in adults.

IGF2 gene

body mass index


Input: Multivariate analysis with the Cox proportional-hazards model revealed the following independent risk factors for HCC: male gender [p < 0. 0001; risk ratio (RR), 3. 97], older age (p < 0. 05; RR, 2. 08), advanced fibrosis (p < 0. 0001; RR, 5. 75), absence of SVR (p < 0. 01; RR, 10. 0), high AST level (p < 0. 01; RR, 2. 08), high AST/ALT ratio (p < 0. 01; RR, 2. 21), and non-DW-type pattern (p < 0. 05; RR, 1. 96).

HCC

fibrosis


Input: HET/SAF-B overexpression causes growth arrest and multinuclearity and is associated with aneuploidy in human breast cancer.

HET

aneuploidy


Input: The documentation of variants in ACTG2 and MYH11 thus points to the involvement of the contractile apparatus of the smooth muscle in MMIHS.

MMIHS

MMIHS


Input: Finally, ABCR-mediated retinal degeneration may result from " poisoning " of the RPE due to A2-E accumulation, with secondary photoreceptor degeneration due to loss of the RPE support role.

RPE

secondary


Input: Kallistatin, but not kallistatin mutant at the heparin-binding domain, abrogated TNF-alpha-induced endothelial cell activation, as evidenced by inhibition of TNF receptor 1-associated death domain protein activation, inhibitor of nuclear factor kappaB-alpha degradation, nuclear factor kappaB translocation, and p38 mitogen-activated protein kinase phosphorylation, as well as cell adhesion molecule and cytokine expression.

TNF-alpha

translocation


Input: CCL2 expression is overexpressed in luminal B breast cancer cells and is important for regulating cell growth and survival by inhibiting necrosis and autophagy.

necrosis


Input: The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

EDA

anhidrotic ectodermal dysplasia

EDA

anhidrotic ectodermal dysplasia


Input: Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.

pilocytic astrocytoma

pilocytic astrocytoma


Input: Mutation analysis of the MSMB gene in familial prostate cancer.

MSMB

familial prostate cancer

MSMB

familial prostate cancer


Input: These findings suggest that the signal transduction pathway via the PKA-p-CREB pathway in the limbic forebrain may be functionally related to the development of sensitization of EtOH-induced place preference and provide a possible molecular basis for the pharmacological effect of acamprosate to prevent or reduce the relapse of alcohol dependence.

CREB

alcohol dependence

CREB

alcohol dependence


Input: The duos were composed of 2 relatives harboring the same heterozygous KCNQ1 or KCNH2 mutation: 1 with cardiac events and 1 asymptomatic and untreated.

asymptomatic


Input: In infected cells, poly (ADP-ribose) polymerase 1 (PARP-1), a DNA repair enzyme that also regulates HMGB1 translocation, was found to be cleaved into fragments that correspond to a necrosis like pattern of PARP-1 degradation.

DNA repair enzyme

translocation


Input: Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

Kindler syndrome

Kindler syndrome


Input: Thus, PTX3 may represent a new marker of cancer-related inflammation and glioma malignancy.

inflammation


Input: The mucosa of these cases was negative for p53 immunoreactivity except for one case showing sporadic positivity.

sporadic


Input: However, ouabain had opposing effects on the stability of TNF-α mRNA: Ouabain triggered miR-181 transcription, which promoted TNF-α mRNA degradation and induced immunoparalysis, and ouabain triggered the nuclear export of human antigen R (HuR), which stabilized TNF-α mRNA and suppressed immuno-paralysis.

TNF-α

paralysis


Input: IL13 C-1111T (rs1800925) was significantly associated with rhinitis and atopic phenotypes in rhinitis trios that were not affected by clinical asthma.

atopic


Input: These unexpected findings suggest an interesting relationship between p53 mutation, mammary cell dedifferentiation, and the concomitant acquisition of stemlike properties (as indicated by the overexpression of PROM1 and NOTCH1 genes), which improve tumor cells aggressiveness as indicated by the overexpression of genes associated with cell proliferation (CDK4, CDK6, MKI67) and migration (CXCR4, MMP1).

aggressiveness


Input: Since VPA is a drug highly successfully used in long-term epilepsy therapy, our findings open the exciting perspective for a first causal therapy of an inherited disease by elevating the SMN2 transcription level and restoring its correct splicing.

epilepsy


Input: Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China.

Budd-Chiari Syndrome

Budd-Chiari Syndrome


Input: DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

Robinow syndrome

Robinow syndrome


Input: In addition, loss of YAP results in Wnt hypersensitivity during regeneration, leading to hyperplasia, expansion of intestinal stem cells and niche cells, and formation of ectopic crypts and microadenomas.

YAP

hypersensitivity


Input: FAF1 has been shown to play an important role in normal development and neuronal cell survival, whereas FAF1 downregulation may contribute to multiple aspects of tumorigenesis.

tumorigenesis


Input: PIK3CA, HRAS and KRAS gene mutations in human penile cancer.

penile cancer

penile cancer


Input: In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.

NF-L

major depression

NF-L

major depression


Input: ECRG2 STR of highest incidence was TCA3/TCA3 [47 (51%) in pancreatic carcinoma; 59 (50%) in pancreatitis patients], followed by the TCA3/TCA4 [37 (40%); 54 (46%)] and TCA4/TCA4 [8 (9%); 4 (4%)] genotypes.

pancreatitis


Input: We show that GRIM-1 isoforms interact with NAF1 and DKC1, two essential proteins required for box H/ACA sno/sca RNP biogenesis and suppresses box H/ACA RNA levels in mammalian cells by delocalizing NAF1.

sca


Input: In the present study, we demonstrated that intraperitoneal administration of clenbuterol, a lipophilic beta (2)-adrenoceptor agonist, caused an increase in TGF-beta1 expression in non-ischemic rats and further enhanced TGF-beta1 protein levels in rat CA1 pyramidal neurones after transient forebrain ischemia.

ischemia


Input: In phenylephrine-induced cardiac hypertrophy, ang1-256 reduced left ventricle (LV)/tibia ratios, fetal gene expressions (atrial and brain natriuretic peptides, skeletal actin, beta-myosin heavy chain), and fibrosis (collagen III), and increased LV prosurvival signaling (akt, MAPK (p42/44)), and AMPK (T172).

fibrosis


Input: We report four Tunisian ARSACS patients homozygous for a novel mutation in SACS exon 9 gene, c. 12846_12850delAGAG.

SACS

ARSACS

SACS

ARSACS


Input: These results suggest that the oncogenic effect of the t (6; 22) translocation is due to the EWS-Oct-4 chimaeric protein and that fusion of the EWS NTD to the Oct-4 DNA-binding domain produces a transforming chimaeric product.

EWS

translocation


Input: Aberrant methylation of the Pleckstrin and Sec7 domain-containing gene is implicated in ulcerative colitis-associated carcinogenesis through its inhibitory effect on apoptosis.

carcinogenesis


Input: Further investigations revealed that knock-down of AGO2 by custom-made AGO2 siRNA in HEK-293 cells resulted in silencing of the expression of target genes vascular endothelial growth factor A and histone deacetylase 2, which are known to be involved in the development of myeloid leukaemia.

vascular endothelial growth factor A

myeloid leukaemia

vascular endothelial growth factor A

myeloid leukaemia


Input: However, despite these alpha-cell effects, high-fat feeding of IL-6 KO mice results in increased fed glycemia due to impaired insulin secretion, with unchanged insulin sensitivity and similar body weights.

insulin sensitivity


Input: In white CHS participants, the prespecified risk alleles of 7 of the 74 SNPs (in HPS1, ITGAE, ABCG2, MYH15, FSTL4, CALM1, and BAT2) were nominally associated with increased risk of stroke (one-sided P < 0. 05, false discovery rate = 0. 42).

ITGAE

stroke


Input: Following the improvement of cardiac function and ventricular remodeling, ICER and CREB mRNA in pre-and post-myocardial-infarction groups were down-regulated, and phosphodiesterase 3A and Bcl-2 mRNA were up-regulated (P & lt; 0. 05).

myocardial-infarction

myocardial-infarction


Input: Previously, we and others demonstrated that CD4 (+) FoxP3 (+) regulatory T cells (Tregs) infiltrate human GBM as well as mouse models that recapitulate malignant brain tumors.

brain tumors


Input: The cells carrying the translocation would retain only one functional copy of the wild-type TBL1XR1 gene while the other, rearranged allele could produce a putative truncated form of TBL1XR1 protein containing the LiSH and F-box-like domains.

translocation


Input: Intrathecal IL-1ra reversed paclitaxel-induced allodynia and intrathecal IL-10 gene therapy both prevented, and progressively reversed, this allodynic state.

allodynia

allodynia


Input: Waist circumference (WC), waist to hip ratio (WHR), percentage of body fat (% BF), systolic blood pressure (SBP), diastolic blood pressure (DBP), fasting plasma glucose (FPG), serum triglycerides (TG), total cholesterol (TC), high density lipoprotein-cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), plasma fasting insulin (FINS), homeostasis model assessment for insulin resistance (HOMA-IR), and plasma leptin were examined.

DBP

systolic blood pressure


Input: Alteration of purinergic P2X4 and P2X7 receptor expression in rats with temporal-lobe epilepsy induced by pilocarpine.

temporal-lobe epilepsy

temporal-lobe epilepsy


Input: We recorded the clinical and morphologic features of 52 MSH6-associated colorectal cancers in comparison with MLH1/MSH2-mutant tumors and sporadic mismatch repair-deficient cancers.

sporadic


Input: Here we report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive.

failure to thrive

failure to thrive


Input: A t (2; 19) (p13; p13. 2) in a giant invasive cardiac lipoma from a patient with multiple lipomatosis.

lipomatosis


Input: These results indicate that chronic fenfluramine exposure potentiates the pulmonary vasoconstrictor response to ET-1, and suggests that elevated levels of serotonin may & lt; prime & gt; the pulmonary circulation to become hyperreactive to other vasoactive substances possibly leading to the development of disease states such as primary pulmonary hypertension.

pulmonary hypertension

pulmonary hypertension


Input: Three-color automated flow cytometry was carried out on peripheral blood CD4 + and CD8 + T-lymphocytes of 42 HIV-positive patients using tri-color anti-CD4 or anti-CD8, phycoerythrin-anti-CD38, and fluorescein-anti-HLA-DR, mAbs to elucidate further the T-cell activation hypothesis recently proposed to explain CD4 + T-cell abnormalities observed during HIV infection.

abnormalities


Input: Longitudinal epigenetic variation of DNA methyltransferase genes is associated with vulnerability to post-traumatic stress disorder.

DNA methyltransferase

stress disorder


Input: Genetic manipulation of LPL may be beneficial in the treatment of hypertriglyceridemias, but it is unknown whether increased LPL activity may be effective in lowering plasma cholesterol and improving insulin resistance in familial hypercholesterolemic patients.

LPL

insulin resistance


Input: A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease.

mild


Input: African American, Caucasian, Chinese, and Japanese women in SWAN enrolled in the Sex Steroid Hormone Genetics Protocol from whom fasting glucose and insulin measures (for estimating insulin sensitivity), diabetes status, and metabolic syndrome classification were obtained.

SWAN

metabolic syndrome


Input: Since most neoplasms are considered to develop as a result of the combination of several gene mutations, these findings suggest that GISTs from NF1 patients might have somatic c-kit gene mutations and that sporadic GISTs from non-NF1 patients might have somatic NF1 gene mutations.

NF1 gene

sporadic


Input: Moreover, the expression levels of PSGL-1 on CD14 + + CD16 + monocytes were significantly higher in patients with plaque rupture or intracoronary thrombus assessed by FD-OCT. Up-regulation of PSGL-1 on CD14 + + CD16 + monocytes may be a crucial role in plaque rupture and thrombus formation.

plaque


Input: Specifically, we have shown that diabetic individuals with Hp2-2 are more likely to develop nephropathy, retinopathy, and cardiovascular disease as compared with those with Hp2-1 or Hp1-1.

retinopathy


Input: The p53 mutational spectrum of germ-line BRCA1-related cancers was shifted toward transversions, frameshifts, and non-CpG transitions relative to the spectrum of sporadic ovarian cancers.

sporadic


Input: Taken together with the present endolymphatic sac tumor (ELST) study, it is suggested that disorder of V2R signaling in the endolymphatic sac for any reason could be involved in the pathogenesis of endolymphatic hydrops.

endolymphatic hydrops


Input: Physiological and pathological roles of a multi-ligand receptor CD36 in atherogenesis; insights from CD36-deficient patients.

atherogenesis


Input: We have identified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain.

XLP

XLP


Input: Increased frequencies of HLA-A30 (16. 7 vs. 3. 8%; P < 0. 01; OR = 5. 05), A31 (9. 5 vs. 1. 9%; P < 0. 05; OR = 5. 72), B18 (31. 7 vs. 14. 3%; P < 0. 05; OR = 2. 78) and Cw7 (53. 3 vs. 21. 9%; P < 0. 01; OR = 4. 07) were observed in patients with pancreatic cancer in comparison to the control subjects.

pancreatic cancer


Input: In this study, we investigated roles for transcriptional and nontranscriptional functions of CDX2 in suppression of colonic tumorigenesis.

tumorigenesis


Input: Using the stepwise Cox regression analysis, we found that the polymorphisms in ERCC1 and XRCC1, tumor stage and chemotherapy or radiotherapy status independently predicted overall survival of non-smoking female patients with lung adenocarcinoma.

smoking


Input: Additional data suggest epigenetic molecular mechanisms in tumor specific regulation of LOXL2 expression that could be explored as a molecular target in the prevention of breast cancer progression.

breast cancer

breast cancer


Input: Whether lamin A plays any role in normal aging is unknown.

lamin A

aging


Input: In addition, ALK, CASC4, and SEMA5A were strongly associated with alcohol dependence (p & lt; 2 & #160; & #215; & #160; 10 (-5)) in the meta-analysis.

ALK

alcohol dependence

ALK

alcohol dependence


Input: In MPTP monkeys with LID, striatal RGS9-2 overexpression--achieved by viral vector injection into the striatum--diminishes the involuntary movement intensity without lessening the anti-parkinsonian effects of the D1/D2 receptor agonist L-dopa.

involuntary movement


Input: In conclusion, our report adds further evidence for the involvement of the nebulin gene in the etiology of fetal akinesia deformation sequence/lethal multiple pterygium syndrome.

nebulin

lethal multiple pterygium syndrome

nebulin

lethal multiple pterygium syndrome


Input: Decreasing membranous catenin expression in tandem with increasing levels of TWIST across the spectrum of lobular lesions suggests that CCC dissociation is a progressive process.

TWIST

dissociation


Input: IL-17A, IL-21, IL-22, TNF-α and IL-6 are also produced in excess in the early colonic lesions in a mouse model of sporadic CRC, associated with enhanced STAT3/NF-kB activation.

TNF-α

sporadic


Input: In this report, we found a novel missense mutation in the HNF-1 beta gene in a patient with neonatal cholestasis and liver dysfunction together with the common features of MODY5.

HNF-1 beta

HNF-1 beta


Input: For children with EAD, the genotype frequency of the-426C--> T SNP was no different between the groups with mild, moderate and severe SCORAD (P = NS).

EAD

mild


Input: Recent studies have suggested the HoxA10, HoxA11 and HoxD11 homeobox genes as candidate loci for the thrombocytopenia with absent radius (TAR) syndrome.

absent radius


Input: Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) and tetrahydrobiopterin deficiency (BH4D), according to the defect of enzyme activity, both of which vary substantially in severity, treatment, and prognosis of the disease.

HPA

tetrahydrobiopterin deficiency


Input: In the non-neoplastic dendritic melanocytes, PCNA is retained in the cytoplasm, resulting in the arrest of the cells in the S/G2-phase for prolonged periods, as indicated by the length and complexity of the dendritic processes.

PCNA

non-neoplastic


Input: The gene expression of the Th1 cytokines IL-12p35, IL-12p40 and IFN-γ and their related transcription factors STAT4, SOCS5 and T-bet, the Th2 cytokines IL-4 and IL-13 and transcription factors STAT6, SOCS3 and GATA-3 and the regulatory cytokines IL-10 and TGF-β and the transcription factor FOXP3 was evaluated in healthy control and atopic dogs.

atopic


Input: In multivariate analysis, AURKA was associated with cyclin D1 expression (P =. 010) and inversely with PIK3CA mutation (P =. 014), fatty acid synthase expression (P =. 028), and family history of colorectal cancer (P =. 050), but not with sex, age, body mass index, tumor location, stage, CIMP, MSI, KRAS, BRAF, BMI, LINE-1 hypomethylation, p53, p21, beta-catenin, or cyclooxygenase 2.

body mass index


Input: Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

APOE

autosomal dominant hypercholesterolemia

APOE

autosomal dominant hypercholesterolemia


Input: HLA-B27/human β2-microglobulin-transgenic (B27-transgenic) rats, a model of spondylarthritis (SpA), develop spontaneous colitis and arthritis under conventional conditions.

colitis


Input: Collectively, these findings demonstrate that TOPK upregulates iNOS gene expression in T cell leukemia Jurkat cells or macrophage leukemic Raw 264. 7 cells via NF-κB activation in response to LPS, and might act as a critical effector in LPS/TLR4-mediated signaling cascade, suggesting a possible role of TOPK in inflammatory response or inflammation-related diseases.

TOPK

inflammation


Input: CSS has 2 major clinical subsets, antineutrophil cytoplasmic antibody (ANCA)-positive, with features of small-vessel vasculitis, and ANCA-negative, in which organ damage is mainly mediated by tissue eosinophilic infiltration; analysis of HLA-DRB4 in patients categorized by different numbers of vasculitic manifestations (purpura, alveolar hemorrhage, mononeuritis multiplex, rapidly progressive glomerulonephritis, and constitutional symptoms) showed that its frequency strongly correlated with the number of vasculitis symptoms (P for trend = 0. 001).

hemorrhage


Input: We tested the hypothesis of association of CHOP 5' UTR-c. 279T > C and + nt30C > T genotypes and haplotypes with tumors/cancer and, separately, with overweight condition.

CHOP

overweight


Input: TAC1 promoter hypermethylation is a common event in both major histologic types of human esophageal carcinoma, occurs early, correlates with other progression risk factors in esophageal adenocarcinogenesis, and is a tissue biomarker of a poor prognosis in ESCC.

esophageal


Input: The high incidence of gliomas in Li-Fraumeni families and the high frequency of somatic p53 mutations in sporadic glial tumors have raised the possibility that germline p53 mutations could play an important role in familial aggregation of gliomas.

sporadic


Input: We examined the association of three resistin polymorphisms,-852A > G,-420C > G and + 157C > T, and related haplotypes with plasma resistin, cytokines, C-reactive protein (CRP), adipokines, plasma lipoproteins, metabolic syndrome and coronary artery calcification (CAC) in nondiabetic Caucasians (n = 851).

CRP

coronary artery calcification


Input: In this study, we evaluated rifampin pharmacokinetics in relation to tuberculosis, geographic region, race, and single nucleotide polymorphisms of the human transporter genes SLCO1B1, SLCO1B3, and MDR1.

tuberculosis


Input: Using an online SAGE database (http://www. ncbi. nlm. gov/SAGE), we found the tag for mesothelin to be consistently present in the mesothelioma, ovarian cancer, and pancreatic cancer libraries but not in normal pancreas libraries.

mesothelin

ovarian cancer

mesothelin

ovarian cancer


Input: Our data further corroborate the previous finding that altered PRKAR1A function, not only haploinsufficiency, is enough to elevate PKA activity which is apparently associated with tumorigenesis in tissues affected by CNC.

tumorigenesis


Input: This translocation generated an in-frame chimeric gene consisting of the N-terminal portion of AML1, retaining the Runt domain, fused to the entire length of TRPS1 on the C-terminus.

translocation


Input: Specifically, 11 sporadic tumors (26%) displayed a loss of one allele of the NF1 gene, which significantly correlated with a reduced NF1 mRNA expression.

NF1 gene

sporadic


Input: Treatment of gerbils with either α-difluoromethylornithine, an inhibitor of ODC, or MDL 72527 (N (1), N (4)-Di (buta-2, 3-dien-1-yl) butane-1, 4-diamine dihydrochloride), an inhibitor of SMOX, reduced gastric dysplasia and carcinoma, as well as apoptosis-resistant cells with DNA damage.

ODC

carcinoma


Input: While up to 20% of women under 50 years of age with TNBC harbor germline mutations in BRCA1, and these tumors are sensitive to treatment with poly (ADP) ribose polymerase inhibitors, a majority of TNBCs lack BRCA1 mutations or loss of expression.

ADP

tumors


Input: Furthermore, formation of CK8 and CK18 complexes due to CK8 phosphorylation at Ser73 and Ser431 was found to be strongly associated with promotion of hepatocarcinogenesis by PB and the development of hepatocellular carcinomas.

hepatocarcinogenesis


Input: The National Cancer Institute established the Cancer Genetics Network (CGN) to support collaborative investigations into the genetic basis of cancer susceptibility, explore mechanisms to integrate this new knowledge into medical practice, and identify ways of addressing the associated psychosocial, ethical, legal, and public health issues.

CGN

cancer


Input: We have identified the histone H3 lysine 9 mono-and di-methyl demethylase enzyme KDM3A as a positive regulator of ER activity.

mono


Input: Of 35 HIS (NEG)/PCR (POS) patients (25. 2%), five also had nodal capsular nevi.

HIS

nevi


Input: In wild-type mice, activation of PKRs by the PKR agonist Bv8 caused hyperalgesia and sensitized to the actions of capsaicin. pkr1-null mice exhibited impaired responses to Bv8 but showed normal hyperalgesic responses to bradykinin and PGE2 (prostaglandin E2).

hyperalgesia

hyperalgesia


Input: In a continuing analysis of translocations in 21 MM lines, we show that the novel, karyotypically silent t (14; 16) (q32. 3; q23) translocation is present in 5 MM lines, with cloned breakpoints from 4 lines dispersed over an approximately 500-kb region centromeric to the c-maf proto-oncogene at 16q23.

c-maf

translocation


Input: Moreover, reintroduction of LOXL1 and LOXL4 genes into human bladder cancer cells leads to a decrease of colony formation ability.

bladder cancer

bladder cancer


Input: HER-2/neu overexpression (independent of smoking) may be involved in the development/progression of lung cancer in patients with CLL, and has an associated worse outcome.

smoking


Input: We report that exposure of breast cancer cells to hypoxia stimulated hypoxia-inducible factor (HIF)-1α-and HIF-2α-dependent expression of AlkB homolog 5 (ALKBH5), an m (6) A demethylase, which demethylated NANOG mRNA, which encodes a pluripotency factor, at an m (6) A residue in the 3'-UTR.

AlkB

breast cancer


Input: HRAS mutation analysis has been undertaken in 74 predominantly British patients with a possible diagnosis of CS.

HRAS

CS

HRAS

CS


Input: CFTR suppresses tumor progression through miR-193b targeting urokinase plasminogen activator (uPA) in prostate cancer.

CFTR

tumor progression


Input: Compared to gastric cancer case, the Gab1 did not influence the step of atrophy/metaplasia-gastric cancer sequence.

metaplasia


Input: The translocation leads to the juxtaposition of BCL3 to the immunoglobulin heavy chain gene locus, resulting in high-level expression of the BCL3 transcript.

translocation


Input: It remains to be clarified what part both forms of ICAM-1 play in the course of colonic cancer, ulcerative colitis, and Crohn' s disease.

colonic cancer

colonic cancer


Input: Two polymorphisms in the apo A-IV gene and familial combined hyperlipidemia.

IV gene

familial combined hyperlipidemia


Input: These results suggest that LSF may provide therapeutic benefit for prevention or treatment of diabetic nephropathy.

LSF

diabetic nephropathy


Input: Significant interactions were observed between smoking status and SULT1A1-638 (P = 0. 02), NAT2-857 (P = 0. 01), and CYP1B1-4390 (P = 0. 04) variants and between smoking duration and NAT1-1088 (P = 0. 02), SULT1A1-638 (P = 0. 04), and NAT1-acetylator (P = 0. 03) status.

smoking


Input: These presymptomatic changes in hippocampal physiology in FAD suggest that hippocampal fMRI patterns during associative encoding may also provide a preclinical biomarker in sporadic AD.

FAD

sporadic


Input: Direct sequencing of the NF1 gene in tumor DNA identified the presence of an inactivating NF1 somatic mutation in 41% (25/61) of analyzed sporadic tumors, associated with loss of the wild-type allele in 84% (21/25) of cases.

NF1 gene

sporadic


Input: Pulmonary fibrosis was associated with HLA-B * 62 and HLA-Cw * 0602, whereas pulmonary hypertension was associated with HLA-B * 13 and HLA-B * 65.

HLA-B

pulmonary hypertension


Input: In the current study, we for the first time investigated by immunohistochemistry and fluorescence in situ hybridization (FISH) the prevalence of cyclin D3 abnormalities in follicular lymphomas (FLs), comparing the results with traditional clinicopathologic characteristics, p27 and skp2 immunoreactivity (IR) and Ki-67 labeling index (LI).

abnormalities


Input: Fifty-two of 55 Chinese subjects with deafness accompanied by enlargement of the vestibular aqueduct (EVA) exhibited at least one mutant SLC26A4 allele, whereas SLC26A4 mutations were found in only 2 of 116 deaf Chinese patients without EVA.

EVA

deafness


Input: Ten fusion genes were detected in 115 cases of leukemia, including AML1/ETO, PML/RAR alpha, PLZF/RAR alpha, dupMLL, MLL/AF6, MLL/AF10, CBFbeta/MYH11, BCR/ABL, Hox11, and EVI1 BCR/ABL was positive in all the 52 cases of chronic myeloid leukemia; PML/RAR alpha was found in 21 of 25 acute promyelocytic leukemia (APL), and PLZF/RAR alpha was detected in one case of APL.

chronic myeloid leukemia


Input: For the functional characterization of CRIP1, its endogenous expression was transiently downregulated in T47D and BT474 breast cancer cells and the effects analyzed by immunoblotting, WST-1 proliferation assay and invasion assay.

breast cancer


Input: We describe a pedigree in which 3 members in the same generation are affected by Rolandic epilepsy (RE), paroxysmal exercise-induced dystonia (PED), and writer' s cramp (WC).

PED

writer' s cramp


Input: Reverse transcriptase polymerase chain reaction analysis of the PDZRN3, CNTN3, STXBP5, PVRL3, HSPB8, and CCDC60 genes revealed slight variation in the copy number of transcripts, but without correlation to the chromosomal rearrangements in translocation-associated and sporadic conventional RCCs.

translocation


Input: The closely related Th2 cytokines, IL-4 and IL-13, share many biological functions that are considered important in the development of allergic airway inflammation and airway hyperresponsiveness (AHR).

inflammation


Input: The cytokine IL-4 is highly involved in T (H) 2 inflammation, such as that seen in allergic rhinitis.

inflammation


Input: BRCA2 tumors present a phenotype opposite to BRCA1 tumors but very similar to sporadic tumors, except that BRCA2 overexpress some DNA repair markers such as CHEK2, show high cytoplasmic expression of RAD51, and are negative for HER-2 amplification and expression.

sporadic


Input: TNF-alpha gene polymorphisms in position-238 and-308 were identified using a modified polymerase chain reaction-restriction fragment length polymorphism method in 53 patients with pemphigus (38 with pemphigus vulgaris, 15 with pemphigus foliaceus) and 87 healthy controls.

alpha gene

pemphigus foliaceus


Input: When transplanted into nude mice, ovarian cancer cells that overexpressed DAXX displayed enhanced tumorigenesis capability in vivo, whereas Daxx depletion inhibited tumor development.

DAXX

tumorigenesis


Input: We performed linkage analysis and sequencing of the entire codifying region of the UMOD gene in 4 Spanish families with MCKD/FJHN/GCKD.

UMOD

FJHN

UMOD

FJHN


Input: Because an airway-like inflammation has been reported in the gut of asthmatic patients, we sought to examine the expression of immunoregulatory cytokines like IL-4, IL-10, and IL-13 by gut mucosa.

inflammation


Input: Mutations of hCAP-C and hCAP-E were investigated in 24 leukemia-lymphoma cell lines including eight PAL cell lines, and their influences in chromosome morphology were evaluated.

PAL

lymphoma


Input: Taken together, our data indicate that Paneth cell hyperplasia and expression of their various antimicrobial products contribute to the immune response driven by TH2 cytokines, such as IL-9 and IL-13 in the intestinal mucosa.

hyperplasia

hyperplasia


Input: To elucidate the spectrum of the G6PC gene mutations, 13 unrelated Korean patients with GSD Ia were analyzed.

GSD Ia

GSD Ia


Input: Furthermore, mice bearing melanoma tumors with knockdown of IFN-γ receptor 1 (IFNGR1) have impaired tumor rejection upon anti-CTLA-4 therapy.

melanoma


Input: We found more frequent expression of CHEK2 in BRCA1 and BRCA2 tumors than in non-BRCA1/2 and sporadic tumors.

sporadic


Input: Given the considerable evidence that anxiety and depression are closely linked with abnormalities in sleep, the data presented here provide further evidence that neurotensin and Ntsr1 may be a component of a pathway involved in both sleep and mood disorders.

neurotensin

depression

neurotensin

depression


Input: Rates of gastrointestinal disorders, jaundice, dry skin, and photosensitivity were increased at 240 mg BID compared with the 240 mg QD dose.

BID

jaundice


Input: KCTD11 (REN) is a tumor suppressor gene mapping on human chromosome 17p13. 2, whose expression is frequently lost in human medulloblastoma and in several other cancer types.

REN

cancer


Input: For the first time, our results demonstrate that the JAK2-STAT3 pathway regulated by miR-375 is involved in H. pylori-induced inflammation; this pathway promotes neoplastic transformation by affecting the expression of BCL-2 and TWIST1, hence offering a potential therapeutic target for inflammation-related cancers, especially those related to H. pylori.

neoplastic transformation


Input: Arsenic trioxide can inhibit LMP1 expression and dictate apoptosis and alterations of cell cycle distribution as well as growth retardation.

growth retardation


Input: Interleukin-10 (IL-10), a potent anti-inflammatory cytokine, has been demonstrated to suppress joint swelling and deformation in RA animal model.

joint swelling


Input: C-myc oncogenes caused the down-regulation of lymphocyte function-associated antigen-1 (LFA-1) adhesion molecules (alpha L/beta 2 integrin) and loss of homotypic B cell adhesion in vitro.

adhesion


Input: We have examined the expression of five VEGF receptors (VEGR1/Flt-1, VEGFR2/KDR, Flt-4, neuropilin-1 = NRP-1, NRP-2) in leukemic cells obtained from patients with acute myeloid leukemia (n = 28), chronic myeloid leukemia (n = 14), chronic eosinophilic leukemia (n = 3), chronic myelomonocytic leukemia (n = 9), or mast cell leukemia/systemic mastocytosis (n = 3) as well as in respective cell lines.

NRP

chronic eosinophilic leukemia


Input: We describe here a novel CSID phenotype, in which pro-SI undergoes an unusual intracellular cleavage that eliminates its transmembrane domain.

SI

CSID

SI

CSID


Input: Down-regulation of the histamine H1 receptor in the frontal cortex may be involved in the pathophysiology of schizophrenia.

histamine H1 receptor

schizophrenia

histamine H1 receptor

schizophrenia


Input: These results suggest that specific astrocytic deficits in GFAP expression in corticolimbic circuits may be a general correlate of depressive-like behavior in animal models in addition to human major depression.

GFAP

major depression

GFAP

major depression


Input: Mutations in three other genes, PLA2G6 (PARK14), FBXO7 (PARK15), and Spatacsin (SPG11) also produce clinical similar phenotypes in that they presented with rapidly progressive parkinsonism, initially responsive to Levodopa treatment but later, developed additional features including cognitive decline and loss of Levodopa responsiveness.

rapidly progressive


Input: Administration of rhBNP improved hemodynamics and ventricular remodeling and reduced myocardial fibrosis, possibly by downregulating CYP11B2 transcription and reducing myocardial aldosterone synthesis.

myocardial fibrosis


Input: The GD-1-12 CAV caused high mortality, severe anemia, thymic atrophy, and subcutaneous hemorrhage in commercial broilers.

CAV

subcutaneous hemorrhage


Input: The primary aim of this study was to study the association between FGGY and sporadic ALS in large, homogeneous populations from northern Europe.

FGGY

sporadic


Input: In line with the central role of D-bifunctional protein in the beta-oxidation of these three types of fatty acids, all patients with D-bifunctional protein deficiency so far reported in the literature show elevated levels of very long chain fatty acids, branched chain fatty acids and bile acid inter-mediates.

D-bifunctional protein

D-bifunctional protein deficiency

D-bifunctional protein

D-bifunctional protein deficiency


Input: Furthermore, there was a significant difference between the group of infertile patients with azoospermia and oligoasthenoteratozoospermia (OAT) when compared by genotype distribution (-786CC vs. 786TT, 894TT vs. 894GG, and 4aa vs. 4bb) (all P < 0. 01).

OAT

infertile


Input: In this study, a more comprehensive analysis of the molecular pathology of haemophilia B in Turkey revealed one large deletion and 33 point mutations in the FIX gene of 34 unrelated patients.

FIX

haemophilia B

FIX

haemophilia B


Input: Mechanistically, CNS disease was due to edema, induced in a CD8-dependent but perforin-independent manner, and brain herniation, similar to that observed in mice challenged intracerebrally with LCMV.

edema


Input: We have measured the levels of typical end products of the processes of lipid peroxidation, protein oxidation, and total antioxidant capacity (TAC) in skin fibroblasts and lymphoblasts taken from patients with familial Alzheimer' s disease (FAD), sporadic Alzheimer' s disease (AD), and age-matched healthy controls.

FAD

sporadic


Input: Here, we show that gigaxonin controls protein degradation of tubulin folding cofactor B (TBCB), a function disrupted by GAN-associated mutations.

gigaxonin

GAN

gigaxonin

GAN


Input: Here, we report retinal thinning as an early disease phenotype in humans with GRN mutations that precedes dementia onset and an age-dependent retinal neurodegenerative phenotype in Grn-KO mice.

GRN

retinal thinning


Input: Expression of ERCC1, TYMS, TUBB3, non‑muscle myosin II, myoglobin and MyoD1 genes was associated with decreased survival in patients with metastatic lung adenocarcinoma.

metastatic lung adenocarcinoma


Input: Later, a fusion of the genes PAX8 and PPARG resulting from this translocation was frequently observed in follicular carcinomas and considered as a marker of follicular thyroid cancer.

PPARG

translocation


Input: The aims of this study were to describe and compare the frequencies of polymorphisms on the interleukin (IL)-6, IL-10, tumor necrosis factor (TNF)-alpha, transforming growth factor (TGF)-beta1, and interferon (IFN)-gamma genes between patients with chronic pancreatitis (CP) and healthy individuals from Bahia, Brazil.

IFN

chronic pancreatitis


Input: Thus U87 astrocytoma cells express both CaR mRNA and protein, and the receptor activates an outward K + channel previously suggested to be involved in membrane polarization and cellular excitability.

astrocytoma


Input: ECRG4 mRNA expression was quantified by real-time RT-PCR in 63 ESCC and corresponding normal esophageal mucosal samples.

esophageal


Input: An additional 43 families and 3 sporadic patients with TGFBI dystrophies from China reported in the literature were reviewed.

TGFBI

sporadic


Input: LTBP4 haplotype influences age at loss of ambulation, and should be considered in the management of DMD patients.

DMD

DMD


Input: FBP1 was lowly expressed in 80% (8/10) human hepatocellular carcinoma, 66. 7% (6/9) liver cancer cell lines and 100% (6/6) colon cancer cell lines, but was higher in paired adjacent non-tumor tissues and immortalized normal cell lines, which was well correlated with its promoter methylation status.

hepatocellular carcinoma

hepatocellular carcinoma


Input: To the best of our knowledge, this is the first evidence showing that the promoter methylation of the GMR2 and GMR5 genes greatly decreased the risk of schizophrenia, and the expression level of the GRM2, GRM5, and GRIA3 genes increased significantly in patients in comparison to healthy controls.

schizophrenia

schizophrenia


Input: To characterize DNA mutations in a pedigree of Axenfeld-Rieger anomaly (ARA) (Online Mendelian Inheritance of Man 601631), a clinically and genetically heterogeneous, autosomal dominantly inherited disorder associated with anterior chamber abnormalities and glaucoma.

ARA

glaucoma


Input: Within nonlesional cases, autosomal dominant lateral temporal epilepsy (ADLTE) is a well-defined, albeit rare, condition characterized by onset in adolescence or early adulthood of lateral temporal seizures with prominent auditory auras sometimes triggered by external noises, normal conventional magnetic resonance imaging (MRI), good response to antiepileptic treatment, and overall benign outcome.

MRI

lateral temporal epilepsy


Input: Since HCC develop in the majority of cases in cirrhotic liver tissue and cirrhosis is the main risk factor for HCC development, we analyzed RKIP expression also in non-cancerous cirrhotic liver tissues by immunohistochemistry.

RKIP

cirrhosis


Input: mRNA ratios of DARPP32, STAT1, STAT3, STAT5A and STAT5B were assessed in routinely diagnosed gliomas s including a series of glioblastomas from patients (n = 67) treated with chemoradiotherapy (temozolomide), out of which 88% had sequencing validated IDH-negative disease.

gliomas


Input: Moreover, we found that expression of RelB was strongly upregulated during inflammation in vivo and by IL-1 in astrocytes in vitro.

RelB

inflammation


Input: These findings extend the link between mitochondrial dysfunction and tumorigenesis and suggest that germline SDHB mutations are an important cause of pheochromocytoma susceptibility.

SDHB

pheochromocytoma

SDHB

pheochromocytoma


Input: Here, we describe three patients with Lowry Wood syndrome with biallelic RNU4ATAC pathogenic variants.

Lowry Wood syndrome

Lowry Wood syndrome


Input: Promoter methylation of Reprimo was found in 79% of gastric cancers, 62% of gallbladder cancers, 57% of lymphomas, 56% of colorectal cancers, 40% of esophageal adenocarcinomas, 37% of breast cancers and 31% of leukemias.

Reprimo

lymphomas


Input: Since classical NPB is very rare, it is suggested that SMD patients with late-or mild-manifesting neurological symptoms should better be assigned to additional SMD subgroups than grouped with NPB.

NPB

mild


Input: Overexpression of serum response factor restores ocular dominance plasticity in a model of fetal alcohol spectrum disorders.

serum response factor

fetal alcohol spectrum disorders

serum response factor

fetal alcohol spectrum disorders


Input: Using a logistic model, FII G20210A mutation (odds ratio [OR] 19. 8, confidence interval [CI] 4. 5-87. 1, p = 0. 001), LAC (OR 2. 7, CI1. 1-6. 5, p = 0. 032), and fibrinogen (OR 1. 01, CI 1. 00-1. 01, p = 0. 001) were associated with CLI, whereas homocysteine, FVIII, and FV R506Q mutation were not.

FVIII

fibrinogen


Input: Based on the current evidence, mutations implicated in channelopathies have the potential to be used for genetic testing to diagnose blindness due to Kir7. 1.

Kir7. 1

channelopathies


Input: It is flanked by two genes ASZ1 [ankyrin repeat, SAM (sterile alpha-motif) and basic leucine zipper] and CTTNBP2 (cortactin-binding protein 2), which have very different expression profiles.

sterile


Input: In classic interstitial cystitis samples nonulcerative portions demonstrated a significant increase in the expression of TRPA1, TRPM2 and 8, TRPV1 and 2, ASIC1, NGF and CXCL9, and a significant decrease in UPK3A and TRPV4.

interstitial cystitis


Input: To evaluate the roles of the CDKN1C (P57KIP2) gene, which encodes for the cyclin-dependent kinase inhibitor CDNC, and the TP53 tumor suppressor gene in adrenal tumorigenesis, as a means of investigating the molecular basis of sporadic adrenal tumors, which is unknown.

sporadic


Input: Extracellular superoxide dismutase (EC-SOD) quenches free radicals and attenuates age-related cognitive decline: opportunities for novel drug development in aging.

EC-SOD

age-related cognitive decline


Input: E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

congenital adrenal hyperplasia due to 21-hydroxylase deficiency

congenital adrenal hyperplasia due to 21-hydroxylase deficiency


Input: These findings suggest that PTD-FNK reduces the volume of myocardial infarction with corresponding functional recovery, at least in part, through the suppression of myocardial apoptosis following ischemia/reperfusion.

FNK

ischemia


Input: Autism/autistic disorder (MIM number 209850) is a complex, largely genetic psychiatric disorder.

MIM

autistic disorder


Input: DSPP mutation in dentinogenesis imperfecta Shields type II.

DSPP

dentinogenesis imperfecta Shields type II

DSPP

dentinogenesis imperfecta Shields type II


Input: We describe a de novo constitutional (X; 17) (q13; p13 translocation in a girl with the clinical features of hypomelanosis of to and plexus papilloma.

papilloma


Input: The phenylpropenone derivatives inhibited NF-κB transcriptional activity, which correlated with their suppressive activity against TNF-α-induced adhesion of U937 human monocytic cells to HT-29 human colonic epithelial cells, an in vitro model of IBD.

NF-κB

adhesion


Input: The ALDH2 promoter variant was associated with binge-drinking, and the ALDH1b1 ala69val polymorphism was associated with diastolic blood pressure.

diastolic blood pressure


Input: There was no correlation between TRX and TBP-2 mRNA levels in patients with endometriosis, whereas TRX mRNA levels were positively correlated with TBP-2 mRNA levels in the control group.

TBP

endometriosis


Input: The effect of the wide spectrum P2 receptor antagonist PPADS, the selective P2X7 receptor antagonist Brilliant Blue G (BBG), the P2X1 receptor antagonist (4, 4', 4'', 4-[carbonylbis (imino-5, 1, 3-benzenetriyl-bis (carbonylimino))] tetrakis-1, 3-benzenedisulfonic acid, octasodium salt (NF449) and (8, 8'-[carbonylbis (imino-3, 1-phenylenecarbonylimino)] bis-1, 3, 5-naphthalene-trisulphonic acid, hexasodium salt (NF023), the P2Y12 receptor antagonist (2, 2-dimethyl-propionic acid 3-(2-chloro-6-methylaminopurin-9-yl)-2-(2, 2-dimethyl-propionyloxymethyl)-propylester (MRS2395), the selective P2Y1 receptor agonist ([[(1R, 2R, 3S, 4R, 5S)-4-[6-amino-2-(methylthio)-9H-purin-9-yl]-2, 3-dihydroxybicyclo [3. 1. 0] hex-1-yl] methyl] diphosphoric acid mono ester trisodium salt (MRS2365), the P2Y2/P2Y4 agonist uridine-5'-triphosphate (UTP), and the P2Y4/P2Y6 agonist uridine-5'-diphosphate (UDP) were examined on mechanical allodynia in the Seltzer model of neuropathic pain, on acute thermal nociception, and on the inflammatory pain and oedema induced by complete Freund' s adjuvant (CFA).

neuropathic pain


Input: nNOS gene deletion exacerbates pathological left ventricular remodeling and functional deterioration after myocardial infarction.

nNOS

left ventricular remodeling

nNOS

left ventricular remodeling


Input: p16 (INK4a) promoter methylation and protein expression in breast fibroadenoma and carcinoma.

breast fibroadenoma


Input: Immunohistochemistry of primary and metastatic melanoma also shows increased BMP4 and BMP7 expression compared with nevi.

nevi


Input: To evaluate the potential interaction between N-acetyltransferase 2 (NAT2) and smoking in breast cancer incidence.

smoking


Input: We present evidence that EDAR is capable of activating the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways and that these activities are impaired in mutants lacking its death domain or those associated with anhidrotic ectodermal dysplasia and the downless phenotype.

JNK

anhidrotic ectodermal dysplasia


Input: HDR syndrome is a heterogeneous syndrome most commonly associated with GATA3 haploinsufficiency.

HDR syndrome

HDR syndrome


Input: To investigate the role of ATF3 in hypertrophic process, we overexpressed ATF3 by adenovirus-mediated gene transfer.

adenovirus


Input: We screened 81 ovarian tumours (30 BRCA1 associated, 18 BRCA2 associated, and 33 sporadic) for somatic TP53 mutations using both DNA analysis and immunostaining.

sporadic


Input: Comparison of the clinical and cytogenetic findings of our patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder.

language delay

language delay


Input: JAG1 expression was significantly increased in SZ and exhibited positive correlations with mediators of the canonical Notch pathway but negative correlations with mature Ol genes.

SZ

SZ


Input: In addition to the previously reported symptoms of severe runting, abnormalities of liver nuclei and greatly reduced lifespan (which appeared less severe in the truncation mutant), both types of ERCC1-mutant mouse exhibited an absence of subcutaneous fat, early onset of ferritin deposition in the spleen, kidney malfunction, gross abnormalities of ploidy and cytoplasmic invaginations in nuclei of liver and kidney, and compromised NER and cross-link repair.

NER

absence of subcutaneous fat


Input: However, unlike fibroblast adhesion to Cyr61, cell surface HSPGs are not absolutely required for this adhesion process.

adhesion


Input: Furthermore, we demonstrate that Th-cytokines, like IL-4, IL-13 and IFNgamma, which regulate the biphasic atopic immune response, directly regulate the expression of PPARgamma1.

atopic


Input: LAMB1 encodes laminin beta-1, which is expressed during early development of the human nervous system, and could be involved in the pathogenesis of neurodevelopmental disorders.

nervous system


Input: Pfeiffer syndrome (PS; McKusick MIM 101, 600) is an autosomal dominant craniosynostosis syndrome with characteristic craniofacial anomalies and broad thumbs and big toes.

MIM

craniosynostosis syndrome


Input: The distribution of the TAP2 alleles analyzed in the different lesions demonstrated a 48. 4% homozygosity of the tumors regarding different N-SNPs.

tumors


Input: Recently, we found that glycolytic enzymes were abundant and some were increased in pseudopodia formed by U87 glioma (astrocytoma) cells.

astrocytoma


Input: Sixty participants were recruited for this study; 50 were hypertensive patients complaining of chest pain [30 of them have electrocardiogram (EKG) changes of ischemia], 20 had isolated HPN, and 10 healthy volunteers served as control.

HPN

chest pain


Input: Thus, in PTHrP-secreting prostate cancers metastatic to bone, the CaR could initiate a vicious cycle, whereby PTHrP-induced bone resorption releases [Ca (2 +)] (o) and TGF-beta stored within bone, further increasing PTHrP release and osteolysis.

TGF-beta

osteolysis


Input: At the same time, the overexpression of miR-422a in HCC tumor cells significantly inhibits tumor growth and liver metastasis in xenograft tumor models.

HCC

liver metastasis


Input: The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia.

stature


Input: Here, we report on a heterozygous mutation in EGR2 (c. 1160C > A), which results in threonine at position 387 being changed to asparagine, in a family with a mild demyelinating form of adult-onset CMT.

mild


Input: This opportunity exploits the discovery that an intestinal receptor, guanylyl cyclase C, which mediates diarrhea induced by bacterial heat-stable enterotoxins (STs), is over-expressed by metastatic colorectal tumors only.

guanylyl cyclase C

colorectal tumors

guanylyl cyclase C

colorectal tumors


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

TMX

tumor


Input: Plasma fatty acid composition, insulin sensitivity, plasma adiponectin and lipid concentrations, and ADIPOQ, ADIPOR1, and ADIPOR2 SNP genotypes were determined in a cross-sectional analysis of 451 subjects with the MetS who participated in the LIPGENE (Diet, Genomics, and the Metabolic Syndrome: an Integrated Nutrition, Agro-food, Social, and Economic Analysis) dietary intervention study and were repeated in 1754 subjects from the LIPGENE-SU. VI. MAX (SUpplementation en VItamines et Minéraux AntioXydants) case-control study (http://www. ucd. ie/lipgene).

MAX

insulin sensitivity


Input: Several biomarkers, such as multimerin 1, ficolin 1, carboxypeptidase N (CPN2), serine protease 1, and platelet factor 4, were tightly correlated with the diagnosis of sepsis.

sepsis


Input: Transcatheter arterial chemoembolization (TACE) has become the standard treatment for unresectable hepatocellular carcinoma (HCC).

HCC

unresectable hepatocellular carcinoma


Input: • Although HGPIN is considered a precursor to cancer, as no LOH was observed, this assay does not provide a genetic marker that may be considered a positive predictor of tumorigenesis in BRCA2 carriers.

tumorigenesis


Input: To analyze the role of precursor lesions in the pathogenesis of GBC we studied the immunohistochemical (IHC) expression of p53, carcino-embryonic antigen (CEA) and carbohydrate antigen 19. 9 (CA-19. 9) in GBC, chronic cholecystitis (CC), XG cholecystitis (XGC) and precursor lesions.

CEA

chronic cholecystitis


Input: In this study, we have used 11 microsatellite markers to analyse loss of heterozygosity (LOH) at chromosome 8p in 151 sporadic breast tumours and 50 tumours from subjects carrying the BRCA2 999del5 mutation.

sporadic


Input: In this study, we investigated the association of the rs7756992 of CDKAL1 and the rs4402960 of IGF2BP2 with Type 2 diabetes, diabetic complications (nephropathy, retinopathy and cardiovascular disease), obesity and hypertension in a Tunisian population.

diabetic complications


Input: TMX attenuated the elevation of pERK1/2, an effect correlated with reduced infarct size.

TMX

infarct


Input: Therefore, we concluded that inducible COX-2 facilitates the recurrence of hippocampal seizures.

seizures

seizures


Input: The COL1A1 mutation produced the most severe phenotypic effects, whereas those in the COL1A2 gene, regardless of the location or effect, produced congenital hip dislocation and other joint instability that was sometimes very marked.

COL1A2 gene

joint instability


Input: Phenotypic correlations between borderline personality and the FFM personality traits ranged from. 06 for openness to experience to. 68 for neuroticism.

FFM

borderline personality


Input: Peripheral T lymphocytes from asymptomatic HBsAg carriers and hepatitis B (HB) immune (naturally acquired or vaccine induced) donors were induced into interleukin-2 (IL-2) secretion by plasma-derived HBsAg and the translational products of the S-and pre-S2 + S gene of HB virus (HBV) in vitro.

asymptomatic


Input: In addition to hypoxia, peptide growth factors are known to regulate VEGF expression but the effect of stem cell factor (SCF), the ligand for c-Kit, on VEGF expression has not been characterized.

c-Kit

hypoxia


Input: IL-1RN genotype was then compared with the presence of bacteria in normally sterile sites in infant deaths.

sterile


Input: In order to improve understanding of the role of PTEN in mammary tumorigenesis in terms of a possible gene dosage effect, its PI3K pathway function and its association with p53, we undertook comprehensive analysis of PTEN status in 135 sporadic invasive ductal carcinomas.

sporadic


Input: SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Myhre syndrome

Myhre syndrome


Input: We concluded that GGT is positively related to age in the 20s to late 30s and to BMI in overweight subjects; both relationships of age and BMI were independent of alcohol consumption.

GGT

overweight


Input: We extend a comprehensive three-parameter linear-exponential model for the excess odds ratio (EOR) for smoking to include effects of NAT2 status, and reanalyse smoking and NAT2 status for the bladder cancer data.

smoking


Input: These findings suggest that CXCL10-CXCR3 may play an important role in the pulpal immune response to caries-related bacterial invasion.

caries


Input: Furthermore, semi-quantitative RT-PCR analyses revealed marked down-modulation of a Th1 cytokine, interferon (IFN)-gamma, in IL-4-stimulated PBMC derived from atopy patients, but not that from healthy individuals.

atopy


Input: The function of PRRT2 and its role in paroxysmal kinesigenic dyskinesia should be further investigated.

paroxysmal kinesigenic dyskinesia

paroxysmal kinesigenic dyskinesia


Input: Our results suggest that, because of the higher expression of these genes and the possible induction of these genes by DAC, patients with gastric carcinoma may, therefore, be potential candidates for tumor-specific immunotherapy directed against these antigens.

DAC

gastric carcinoma


Input: In a family expressing euthyroid hyperthyroxinemia, an increased association of plasma thyroxine (T4) with transthyretin (TTR) is transmitted by autosomal dominant inheritance and is secondary to a mutant TTR molecule with increased affinity for T4.

TTR

euthyroid hyperthyroxinemia


Input: The GC2 variant predisposed to bronchiectasis in AATD (p = 0. 04) and protected against COPD (p = 0. 05); the latter association was replicated in usual COPD versus controls (p = 0. 04).

bronchiectasis


Input: Furthermore ESR was expressed in the melanocytes which have an important role in the pigmentation.

ESR

pigmentation


Input: Anti-GPVI-associated ITP: an acquired platelet disorder caused by autoantibody-mediated clearance of the GPVI/FcRgamma-chain complex from the human platelet surface.

GPVI

platelet disorder


Input: The BRCA1 and BRCA2 gene products are believed to play an important part in the onset and/or development of many sporadic mammary cancers.

BRCA2 gene

sporadic


Input: The authors examined whether familial hamartomatous polyps harbor defects in DNA mismatch repair (MMR), and assayed for somatic mutation of PTEN, a gene inactivated in the germline of some hamartomatous polyposis syndrome patients.

MMR

hamartomatous polyposis


Input: Previously, the recurrent somatic mutation c. 548G > A (p. R183Q) in the G-α q gene (GNAQ) was identified as causative in SWS and non-syndromic port-wine stain patients using whole-genome sequencing.

GNAQ

somatic mutation


Input: These results are consistent with a possible link between genetic variations in the HPA axis and inattention and hyperactivity measures.

HPA

inattention


Input: The interaction of RasGRP3 and Arp3 was validated by immunofluorescence staining and co-immunoprecipitation, and PMA, which activates RasGRP3 and induces its translocation to the peri-nuclear region, increased the association of Arp3 and RasGRP3.

translocation


Input: Given the association of neurological diseases with autoantibodies directed to the TNR region on exon 5 of TNRC6A, this study examined whether there were TNR expansions as described in other neurological diseases and/or mutations in the nucleotide sequence of the CAG/CCA/G-rich region in seven anti-GW/P body positive patients, six control and eight breast cancer patients.

TNR

breast cancer


Input: Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13. 2-21. 3.

frontotemporal dementia


Input: Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.

Intellectual Disability

Intellectual Disability


Input: We genotyped 23 single nucleotide polymorphisms (SNPs) in the PDYN and OPRK1 genes in 816 alcohol-dependent subjects and investigated their association with: (1) negative craving measured by a subscale of the Inventory of Drug Taking Situations; (2) a self-reported history of depression; (3) the intensity of depressive symptoms measured by the Beck Depression Inventory-II.

Depression

Depression


Input: Expression of Ki-67 and HIF-1alpha, activated caspase 3, microvascular density (MVD) and tumor necrotic area assessed.

caspase 3

necrotic


Input: To estimate the overall prevalence of FAD-associated mutations in the beta A4 domain of APP, we sequenced exons 16 and 17 in 30 (20 early-and 10 late-onset) FAD kindreds and in 11 sporadic AD cases, and we screened 56 FAD kindreds and 81 cases of sporadic AD for the presence of the originally reported FAD-associated mutation, APP717 Val----Ile (by BclI digestion).

FAD

sporadic


Input: Stimulation of MSCs with recombinant AMF (rAMF) also induced the in vitro adhesion to endothelial cells in coincidence with changes in the expression levels of MMP3, AMF receptor, caveolin-1, and-2 and GDI-2.

adhesion


Input: In conclusion, these studies demonstrate that activation of c-Myc in beta-cells leads to 1) increased proliferation and apoptosis, 2) initial hyperplasia with amorphous islet organization, and 3) selective downregulation of insulin gene expression and the development of overt diabetes.

insulin gene

hyperplasia


Input: Serum PTH, 25-hydroxyvitamin D (25OHD), 1, 25-dihydroxyvitamin D (1, 25-(OH) 2D), plasma creatinine, phosphate, calcium, albumin, Bsm-1 vitamin D receptor genotype, age, weight and use of frusemide or thiazide.

PTH

weight


Input: It would therefore appear likely that HLA-G plays an important role in liver diseases.

HLA-G

liver diseases


Input: Our findings suggest that the functional polymorphisms in GSK3B promoter may be involved in the risk of developing sporadic LOAD in Han Chinese.

sporadic


Input: Microgliosis, quantified with ionized calcium-binding adapter molecule 1 (Iba-1) staining, did not differ between groups, whereas plaque associated microglia was more abundant in J20 CNR2 ⁻/⁻ mice.

ionized calcium-binding adapter molecule 1

plaque


Input: HLA-G 14-bp polymorphism: a possible marker of systemic treatment response in psoriasis vulgaris? Preliminary results of a retrospective study.

HLA-G

psoriasis vulgaris


Input: We performed single SNP tests of association using linear regressions assuming an additive genetic model adjusted for age, sex, diastolic blood pressure, systolic blood pressure, and type 2 diabetes status for several outcomes including creatinine (urinary), creatinine (serum), albumin (urinary), eGFR, and albumin-to-urinary creatinine ratio (ACR).

ACR

systolic blood pressure


Input: Transient global ischemia results in selective neuronal damage of hippocampal CA1 neurons.

ischemia


Input: That such diverse stimuli can lead to activation of Rho kinase, which may cause hypercontraction of smooth muscle by promoting both actomyosin interaction and remodeling of the cytoskeleton, may explain why in various rat models of pulmonary hypertension Rho kinase inhibitors are more effective pulmonary vasodilators than conventional agents such as nitric oxide, prostacyclin, and nifedipine.

Rho kinase

pulmonary hypertension


Input: Because caffeine (a nonselective adenosine receptor antagonist) and selective adenosine A2A receptor (A2A R) blockade alleviate neurodegeneration in different brain diseases, namely at early stages of another polyglutamine-related disorder such as Huntington' s disease, we now tested their ability to control MJD-associated neurodegeneration.

adenosine A2A receptor

brain diseases


Input: Elp3 links tRNA modification to IRES-dependent translation of LEF1 to sustain metastasis in breast cancer.

breast cancer

breast cancer


Input: Our study aimed to test the hypothesis that overexpression of ANT1 in cardiomyocytes has cardioprotective effects in diabetic cardiomyopathy induced by streptozotocin (STZ).

diabetic cardiomyopathy

diabetic cardiomyopathy


Input: The neuroendocrine impact of ART on the offspring includes slight elevations of systolic blood pressure (SBP) and diastolic blood pressure (DBP), as well as increased circulating triglyceride concentrations, in children born after ART, especially in those with rapid catch-up growth in weight during early childhood.

DBP

systolic blood pressure


Input: Dystrophic forms of epidermolysis bullosa (DEB), characterized by mutations in the type VII collagen gene (COL7A1), are inherited either in an autosomal dominant or autosomal recessive fashion, and sporadic, de novo cases have also been reported.

sporadic


Input: When L-arginine (2. 25 g/kg/day), pentoxifylline (10 mg/kg/day), or sildenafil (10 mg/kg/day) was given individually in the drinking water for 45 days to rats with a PD-like plaque induced by TGF beta1, each treatment resulted in a 80-95% reduction in both plaque size and in the collagen/fibroblast ratio, as determined by Masson trichrome staining.

TGF beta1

PD

TGF beta1

PD


Input: A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules.

anhidrotic ectodermal dysplasia

anhidrotic ectodermal dysplasia


Input: Both germline and somatic loss-of-function CHEK2 mutations occur in human tumours, the former linked to the Li-Fraumeni syndrome, and the latter found in diverse types of sporadic malignancies.

Li-Fraumeni syndrome

sporadic


Input: We describe two cases of acute myelomonocytic leukemia with eosinophilia (AML-M4Eo) that were diagnosed with an inv (16) (p13q22) based on conventional cytogenetics (CC) and fluorescence in situ hybridization (FISH) technique using a chromosome 16p arm specific paint probe.

FISH

eosinophilia


Input: The cytoprotective effects of overexpressed Hsp70 and Hsp27 were observed not only in the case of infection before hypoxia but also when EC were infected at the start of reoxygenation or 1-2 hours later.

hypoxia


Input: These site-specific GAS infections involved meningitis, arthritis, necrotizing fasciitis, and puerperal sepsis.

GAS

arthritis


Input: In conclusion, our findings provide supporting evidence that the C-2399A variant in XPNPEP2 is associated with reduced APP activity and a higher incidence of AE-ACEi.

AE-ACEi

AE-ACEi


Input: Similar observations were made with a MTX-resistant subline of the promyelocytic leukemia cell line, HL-60R, with 200 gene copies of DHFR.

MTX

promyelocytic leukemia


Input: While SAG is a bona fide anti-caries factor, DMBT1 was proposed as a candidate tumor-suppressor for brain, digestive tract, and lung cancer.

SAG

lung cancer


Input: Antagonism between interleukin 3 and erythropoietin in mice with azidothymidine-induced anemia and in bone marrow endothelial cells.

interleukin 3

anemia

interleukin 3

anemia


Input: Disease-associated FANCC mutants do not bind to FANCE, cannot accumulate in the nucleus and are unable to prevent chromosome breakage.

FANCE

chromosome breakage


Input: A previous study found that brain natriuretic peptide (BNP) inhibited inflammatory pain via activating its receptor natriuretic peptide receptor A (NPRA) in nociceptive sensory neurons.

natriuretic peptide receptor A

pain

natriuretic peptide receptor A

pain


Input: Taken together, we identified interesting novel candidate genes that likely contribute to glioma progression and provide first evidence for a role of epigenetic silencing of AMOG in malignant glioma cells.

AMOG

glioma

AMOG

glioma


Input: We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16. 3, 8q24. 21 and 8q24. 3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10 ⁻ ¹¹) and a tag SNP for NAT2 acetylation status (P = 4 × 10 ⁻ ¹¹), and found interactions with smoking in both regions.

smoking


Input: Thirty-seven FMCs with 27 matched non-neoplastic controls were also investigated for gene expression of ERa, ER beta, PR, and HER2.

ER beta

non-neoplastic


Input: Here, we show that gene transfer-induced p75 (NTR) expression impairs the survival, proliferation, migration, and adhesion capacities of cultured ECs and endothelial progenitor cells (EPCs) and inhibits angiogenesis in vitro.

NTR

adhesion


Input: To investigate the molecular heterogeneity of tyrosinemia, the geographic distribution and the genotype-phenotype relationship, we have analyzed the FAH genotype of 25 HT1 patients.

FAH

FAH


Input: Mutation analysis of the MECP2 gene in patients with Rett syndrome.

Rett syndrome

Rett syndrome


Input: Recruitment of endothelial progenitor cells to the lung and subsequent neovascularisation was also IL-25 dependent, demonstrating a direct role for IL-25 during angiogenesis in vivo.

neovascularisation


Input: The diabetogenic, insulin-specific CD8 T cell response primed in the experimental autoimmune diabetes model in RIP-B7. 1 mice.

autoimmune diabetes


Input: A novel I247T missense mutation in the haptoglobin 2 beta-chain decreases the expression of the protein and is associated with ahaptoglobinemia.

haptoglobin

ahaptoglobinemia

haptoglobin

ahaptoglobinemia


Input: We have already mapped the macular drusen susceptibility locus in rhesus macaques to the homolog of human chromosome 6q14-15 and shown that a particular IMPG1 gene SNP haplotype was apparently associated with drusen formation in the rhesus macaques maintained by the Caribbean Primate Research Center (CPRC), Puerto Rico, USA.

IMPG1 gene

macular drusen


Input: Gln/Gln alleles of both XRCC1 and XPD genes appear to amplify the effects of household exposure, smoking and betel quid chewing on lung cancer risk in the study population.

smoking


Input: We identified protein tyrosine kinase 6 (PTK6) as a transcript that was significantly down-regulated in ESCC tissues and cell lines compared with nontumor tissues or immortalized normal esophageal cell lines.

esophageal


Input: Pretreatment of MPO-high leukemia cells with a MPO-specific inhibitor, 4-aminobenzoic acid hydrazide, or a MPO-specific small interfering RNA (siRNA) abrogated the PTL-induced ROS generation and apoptosis, indicating that MPO plays a crucial role in PTL-induced apoptosis in leukemia cells.

PTL

leukemia


Input: The primary lesion of NKH at gene level was investigated, using cDNA encoding human glycine decarboxylase.

glycine decarboxylase

primary lesion


Input: Moreover, we found that cytoplasmic p27 bound to a cleaved intermediate (p43/p41) of caspase 8 and that inhibition of cytoplasmic translocation of p27 reduced gefitinib-induced cell death in HCC827 cells.

caspase 8

translocation


Input: PCNA expression was negative in normal or inflammation of the cervix, but an increased in expression was seen in 63. 2% in CIN and 100% in SCC (P < 0. 01, P < 0. 05).

PCNA

inflammation


Input: Choroideremia (CHM) is an X-linked retinal degeneration of photoreceptors, the retinal pigment epithelium (RPE) and choroid caused by loss of function mutations in the CHM/REP1 gene that encodes Rab escort protein 1.

RPE

retinal degeneration


Input: In the present study, we have identified a large number of mutations in SLC17A5 in patients presenting with either Salla disease or the ISSD phenotype.

ISSD

ISSD


Input: The susceptibility of prostate cancer cell lines (PC-3, DU-145, and LNCaP) to measles virus infection was demonstrated using an MV-Edm derivative expressing green fluorescent protein (GFP).

virus infection


Input: The severe visual impairment of individuals with mutations in RDH12 is in marked contrast to the mild visual deficiency in individuals with fundus albipunctatus caused by mutations in RDH5, encoding another retinal dehydrogenase.

mild


Input: Therefore, we conclude that TOPK has a protective function in solar UV light-induced inflammation.

TOPK

inflammation


Input: After 5-week insulin therapy, there was a significant decrease in the expression of CCR5 on the surface of these cells and a significant fall in serum levels of RANTES, IL-6, TNF-alpha and hsCRP.

RANTES

fall


Input: Using matrix-assisted laser desorption/ionization mass spectrometry, we identified six proteins in the NIL (four down, two up) and nine proteins in the SON (four up, five down) that are regulated as a consequence of chronic dehydration.

SON

dehydration


Input: Multivariate linear regression analysis indicated that the-1131T > C polymorphism remained an independent predictor of triglyceride, HDL-C, and FER (HDL) following adjustment of several variables including age, gender, body mass index, diabetes, lipid lowering and beta-blocker medication.

FER

diabetes


Input: We used a flow cytometric assay to detect annexin V-, apoE-, apoAI-, apoJ-, and amyloid (A) β42-positive particles in CSF from 131 research volunteers who were neurologically normal or had mild cognitive impairment (MCI), Alzheimer disease (AD) dementia, or Parkinson disease.

annexin V

dementia


Input: Postzygotic Mutations in Beta-Actin Are Associated with Becker' s Nevus and Becker' s Nevus Syndrome.

Beta-Actin

Becker' s Nevus Syndrome

Beta-Actin

Becker' s Nevus Syndrome


Input: Variants of RARS include refractory cytopenia with multilineage dysplasia and ring sideroblasts, and RARS associated with marked thrombocytosis; these variants involve additional genetic lesions.

RARS

refractory cytopenia with multilineage dysplasia and ring sideroblasts


Input: In addition, we describe new and recurrent, albeit less frequent, genetic defects including mutations in FYN, ATM, B2M and CD58 implicating SRC signaling, impaired DNA damage response and escape from immune surveillance mechanisms in the pathogenesis of PTCL.

PTCL

PTCL


Input: To address the role of TREM-1 in a murine model of fungal allergic airway disease, A. fumigatus-sensitized CBA/J mice received by intratracheal injection a mixture of live A. fumigatus conidia and one of a control adenovirus vector (Ad70), an adenovirus containing a gene encoding for the extracellular domain of mouse TREM-1 and the F (c) portion of human IgG (AdTREM-1Ig; a soluble inhibitor of TREM-1 function), or an adenovirus containing mouse DAP12 (AdDAP12; DAP12 is an intracellular adaptor protein required for TREM-1 signaling), and examined at various days after challenge.

adenovirus


Input: These results indicate that epigenetically mediated inhibition of Ahcy expression may be a driving force in causing SAH elevation and subsequent downstream disturbances in transsulfuration and transmethylation pathways during the development and progression of NASH.-Pogribny, I. P., Dreval, K., Kindrat, I., Melnyk, S., Jimenez, L., de Conti, A., Tryndyak, V., Pogribna, M., Ortega, J. F., James, S. J., Rusyn, I., Beland, F. A. Epigenetically mediated inhibition of S-adenosylhomocysteine hydrolase and the associated dysregulation of 1-carbon metabolism in nonalcoholic steatohepatitis and hepatocellular carcinoma.

S-adenosylhomocysteine hydrolase

nonalcoholic steatohepatitis

S-adenosylhomocysteine hydrolase

nonalcoholic steatohepatitis


Input: Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome.

CTSC

Papillon-Lefevre syndrome

CTSC

Papillon-Lefevre syndrome


Input: Our results suggest that LAB might be a new therapeutic agent for the prevention of nephropathy in type 2 diabetes.

LAB

type 2 diabetes


Input: We compared mRNA levels of these genes in the dentate gyrus (DG) and cornu ammonis (CA) 1 and CA3 of AH and PH in 20 matched pairs of control and schizophrenia cases.

schizophrenia


Input: RECQL4-p53 interaction is disrupted after stress, allowing p53 translocation to the nucleus.

translocation


Input: The identified biomarkers differentiated HCC from chronic hepatitis in another set of samples from Dhaka.

HCC

chronic hepatitis


Input: Functionally inactivating point mutation in the tumor-suppressor IRF-1 gene identified in human gastric cancer.

gastric cancer

gastric cancer


Input: Our aim was to establish a sensitive method which is able to identify all combinatorially possible EWSR1-FLI1 and EWSR1-ERG translocation transcripts in FFPE tissue samples despite significant RNA-degradation.

translocation


Input: Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families.


Input: In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome.

PORCN

Goltz-Gorlin syndrome

PORCN

Goltz-Gorlin syndrome


Input: Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.

gelatinous drop-like corneal dystrophy

gelatinous drop-like corneal dystrophy


Input: In contrast, methylated ppENK and pi6 were not detected in 20 patients with non-malignant periampullary disease including 12 patients with chronic pancreatitis.

chronic pancreatitis


Input: We examined the expression of leptin (ob) and leptin receptor (ob-R) genes in the rat heart following ischemia/reperfusion, which was induced by coronary artery ligation, and mRNA was obtained from hearts 0. 5 to 36 h after initiating reperfusion.

leptin receptor

ischemia


Input: Tamoxifen treatment significantly accelerated Twist1 degradation in multiple cell lines including HEK293 human kidney cells, 4T1 and 168FARN mouse mammary tumor cells with either ectopically or endogenously expressed Twist1.

mammary tumor


Input: Samples of sectors CA3/2 and CA1 were obtained from patients with schizophrenia, patients with bipolar disorder, and healthy controls.

schizophrenia


Input: Linkage analysis followed by association show NRG1 associated with cannabis dependence in African Americans.

cannabis dependence

cannabis dependence


Input: Content of DNA and telomerase as well as multi-gene expressions such as p53, p21 and cyclin D1 in esophageal precancer cells were quantitatively analysed by flow cytometry (FCM) with indirect immunofluorescence technique and DNA propidium iodide fluorescence staining.

cyclin D1

esophageal


Input: The IGFBP3 promoter region was highly methylated in human melanoma samples as compared with normal nevi.

nevi


Input: By contrast, in the second patient who declined treatment, the Tat-specific CD8 (+) T cells disappeared below detection, in conjunction with Gag-specific CD4 (+) T cell loss, as plasma viremia reached a set point.

viremia


Input: The translocation does not interrupt the transcriptional integrity of BCL3, but is associated with overexpression of this gene, which encodes an I kappa B-like protein and modulates the activity of the NF-kappa B transcription factors.

translocation


Input: We sought to determine whether hypoxia is an initiating factor in the matrix metalloproteinase-2 (MMP-2) up-regulation observed in abdominal aortic aneurysm (AAA) and whether hypoxia-inducible factor-1α (HIF-1α) or Ets-1 are mediating factors.

hypoxia


Input: Thus, pancreatitis risk is highest in individuals who have abnormalities in both the pancreatic ducts (CFTR) and acini (PSTI).

PSTI

abnormalities


Input: The chromogranin B (secretogranin I) belongs to a series of acidic secretory proteins that are widely expressed in endocrine and neuronal cells, and its cerebrospinal fluid levels have been reported to decrease in patients with chronic schizophrenia.

chromogranin B

chronic schizophrenia

chromogranin B

chronic schizophrenia


Input: Two SNPs (in NR1H4 and SMARCA2 in women only) were significantly associated with both BMI and waist circumference.

waist circumference


Input: Statistical analysis indicated that six genes, NFATC2, SCP2, CACNA1C, TCRA, POLE, and FAM3D, were associated with narcolepsy (P < 0. 001).

narcolepsy


Input: To evaluate the association between vascular endothelial growth factor (VEGF) gene polymorphisms and the risk of recurrent spontaneous abortion (RSA), a meta-analysis of published case-control studies for the VEGF gene polymorphisms (gene polymorphisms reported more than three times were selected) and the risk of RSA.

VEGF

spontaneous abortion


Input: Here, we identify homozygous nonsense and missense mutations in the orphan gene C20orf72 in three families with a mitochondrial syndrome characterized by external ophthalmoplegia, emaciation and respiratory failure.

emaciation

emaciation


Input: Individuals with one or two XRCC1 (R280H) variant alleles exhibited significantly higher TM values, and these differences were enhanced by alcohol consumption and aging, whereas smoking and poor HPI may cover up the differences.

smoking


Input: In cell and animal models, C-terminus-truncated DISC1 disrupts intracellular transport, neural architecture and migration, perhaps because it fails to interact with binding partners involved in neuronal differentiation such as fasciculation and elongation protein zeta-1 (FEZ1), platelet-activating factor acetylhydrolase, isoform Ib, PAFAH1B1 or lissencephaly 1 protein (LIS1) and nuclear distribution element-like (NUDEL).

lissencephaly 1


Input: Furthermore, Epo increased the secretion of interleukin (IL)-4, IL-5, IL-6, IL-8, IL-10, IL-12, IL-13, GM-CSF and interferon-γ by A2780 cells that grew in hypoxic conditions.

GM-CSF

hypoxic


Input: We conclude that the spermatogenic failure observed in infertile patients with SCO histology and elevated FSH serum levels can be explained neither by a change in FSH bioactivity nor by mutations in the FSHR.

FSHR

infertile


Input: Strong membrane/cytoplasmic CA9 expression, noted in 20/75 (26. 6%) tumors, mainly occurred in tumors with very poor vascularization (expression in 63% versus 14%; P < 0. 0001), was located around areas of focal necrosis, and was related to poor complete response rate (40% versus 70%; P = 0. 02).

vascularization


Input: In both asymptomatic cases we found an increased number of SMN2 copies in the healthy carriers and a biallelic SMN1 absence.

asymptomatic


Input: Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.

luteinizing hormone receptor

Gonadotropin-independent precocious puberty

luteinizing hormone receptor

Gonadotropin-independent precocious puberty


Input: This could elevate blood pressure by increasing the expression of WNK4 thereby stimulating inappropriate salt retention in the kidney by promoting activation of the NCC/NKCC2 ion co-transporters.

blood pressure


Input: For the G × E interaction, the estimated OR of oral cancer for two (drinking-BQ chewing), three (XRCC1-XRCC2-BQ chewing), four (XRCC1-XRCC2-age-BQ chewing), and five factors (XRCC1-XRCC2-age-drinking-BQ chewing) were 32. 9 [95% CI = 14. 1-76. 9], 31. 0 [95% CI = 14. 0-64. 7], 49. 8 [95% CI = 21. 0-117. 7] and 82. 9 [95% CI = 31. 0-221. 5], respectively.

drinking


Input: The present report describes the identification via whole-exome sequencing of five different mutations in the gene LSS in three unrelated families with unexplained, potentially autosomal-recessive HS.

LSS

HS

LSS

HS


Input: Unexpectedly, we found that deleting exons 2-4 of Dyx1c1 in mice caused a phenotype resembling primary ciliary dyskinesia (PCD), a disorder characterized by chronic airway disease, laterality defects and male infertility.

male infertility

male infertility


Input: The DQw1c subtype, found in linkage disequilibrium with DR1, w10, w14, and some Pacific Island variants of DRw6 and DRw8, was significantly reduced in leprosy patients.

leprosy


Input: In the family with syndactyly type V, we identified a missense mutation in the HOXD13 homeodomain, c. 950A--& gt; G (p. Q317R), which leads to substitution of the highly conserved glutamine that is important for DNA-binding specificity and affinity.

syndactyly type V

syndactyly type V


Input: We therefore speculated that the Aurora-A/STK15/BTAK gene, implicated in the regulation of centrosome duplication, may be associated with breast tumorigenesis.

BTAK

tumorigenesis


Input: The differential expression of NPM1 along the normal colon-adenoma-carcinoma progression and its involvement in resisting p53 related senescent growth arrest in CRC cell lines implicate its role in supporting CRC tumorigenesis.

tumorigenesis


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

ASC

albuminuria

ASC

albuminuria


Input: Long-term blockade of AT1 receptors in chronic nephritis has beneficial effects both on albuminuria and blood pressure being as effective as ACE inhibition or their combination.

ACE

chronic nephritis


Input: Finally, engagement of GITR in NFATc2 ((-/-)) mice induced IFN-gamma levels in the airways, reversed the suppression by T (reg) cells, and costimulated effector CD4 (+) CD25 (+) (IL-2Ralpha) and memory CD4 (+) CD127 (+) (IL-7Ralpha) T cells, resulting in abrogation of carcinoma progression.

carcinoma


Input: It indicates that MeCP2 may be an attractive target for human HCC.

HCC

HCC


Input: Children with autism/ASD had significantly higher levels of many growth-related hormones: IGF-1, IGF-2, IGFBP-3 and GHBP.

autism

autism


Input: We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.

ICCA) syndrome

ICCA) syndrome


Input: The average relative risk for the development of systemic vasculitis in C3F homozygotes was 5. 1, indicating a gene dosage effect.

systemic vasculitis


Input: Three weeks later, the systolic pressure of the caudal artery was measured, catheterization through carotid artery was conducted to measure the systolic blood pressure (SBP) and diastolic blood pressure (DBP), and the left ventricular pressure curve was drawn.

DBP

systolic blood pressure


Input: The number of GAT-1-immunoreactive (ir) neurons was increased in several forebrain regions 24 h after induction of seizures by CRH as compared to the control group.

GAT

seizures


Input: These findings represent the first demonstration that the ITSN1-PI3K-C2β pathway has a requisite role in human cancer, specifically neuroblastomas.

cancer


Input: Proximal symphalangism (SYM1) is an autosomal-dominant developmental disorder of joint fusion.

developmental disorder


Input: The EMT of cancer cells induced by hypoxia was inhibited by treatment with LOX siRNA.

LOX

hypoxia


Input: In this study, we tested the leukocyte mRNA expression levels of genes belonging to glucocorticoid receptor (GR) function (FKBP-4, FKBP-5, and GR), inflammation (interleukin (IL)-1 & #945;, IL-1 & #946;, IL-4, IL-6, IL-7, IL-8, IL-10, macrophage inhibiting factor (MIF), and tumor necrosis factor (TNF)-& #945;), and neuroplasticity (brain-derived neurotrophic factor (BDNF), p11 and VGF), in healthy controls (n = 34) and depressed patients (n = 74), before and after 8 weeks of treatment with escitalopram or nortriptyline, as part of the Genome-based Therapeutic Drugs for Depression study.

VGF

Depression

VGF

Depression


Input: The PTB cutoff value for association with grade 3-4 neutropenia occurrence was set at 0. 8 mg/dL.

PTB

neutropenia


Input: Here, we demonstrate that the hypoxia induces HIF-1α expression, which in turn mediates the up-regulation of GPER and its downstream target CTGF in estrogen receptor-negative SkBr3 breast cancer cells and in HL-1 cardiomyocytes.

CTGF

hypoxia


Input: In single variant analyses, untreated hypertensives, carrying the AGT-532T or-6A alleles had significantly higher systolic blood pressure (SBP) and diastolic blood pressure (DBP), as well as ambulatory BP values compared to respective non-carriers.

DBP

systolic blood pressure


Input: As such, overt diabetes is not related to SLC2A10 mutations associated with ATS.

ATS

ATS


Input: One hundred and sixty four consecutive patients with thrombosis (42. 1% arterial (AT), 36% venous (VT), 4. 9% both venous and arterial thrombosis (AVT) and 17% unusual site (UST)) were included.

UST

arterial thrombosis


Input: We describe the case of a 10-year-old girl with chronic myelomonocytic leukaemia with the chromosomal translocation t (8; 9) (p11; q34), who had developed tonsillar lymphoma as extramedullary involvement at the initial presentation.

chronic myelomonocytic leukaemia


Input: PU. 1 levels were increased in hypoxic endothelium by RUNX-1 and C/EBPα.

PU. 1

hypoxic


Input: The degree of short stature was related to the site of the mutation in the COMP gene, but there was no correlation between bony deformity and height or gene mutation.

COMP gene

height


Input: MRI showed hypertrophy, predominantly at the apex of the heart.

MRI

hypertrophy


Input: Pharmacological inhibition of cAMP-dependent protein kinase (PKA) and siRNA-mediated depletion of PKA greatly reduced B-Raf activity, ERK1/2 activation, and cell proliferation in (WT) B-Raf cells, whereas it did not affect (V600E) B-Raf cells, demonstrating a key role of PKA in mediating (WT) B-Raf/ERK signaling for uveal melanoma cell growth.

ERK

uveal melanoma


Input: The present study was undertaken to analyze the changes in the proportion of CD4 (+) CD25 (bright) regulatory T (Treg) cells and the expression of costimulatory molecules, CTLA-4 and CD28, in the peripheral blood and deciduas in the setting of non-pregnancy, normal early pregnancy and miscarriage.

miscarriage


Input: Expression of inhibitor of apoptosis protein (IAP) livin/BIRC7 in acute leukemia in adults: correlation with prognostic factors and outcome.

IAP

acute leukemia


Input: Glyoxylase 1 (GLO1) and guanine nucleotide-binding protein 1 (GNB1) mostly account for baseline anxiety-like and depressive-like behavior, indicating a common biological link between depression and anxiety.

depression

depression


Input: Despite their severe iron overload, the livers of Bmp6-deficient mice have low levels of phosphorylated Smad1, Smad5 and Smad8, and these Smads are not significantly translocated to the nucleus.

iron overload


Input: The findings show, for the first time in humans, that PEDF concentrations decrease significantly after weight loss in association with blood pressure.

PEDF

blood pressure


Input: TGF alpha and EGF are the ligands of the tumor cells that overexpress EGF receptor in esophageal carcinomas.

EGF

esophageal


Input: We identified significant associations of childhood ALL risk with haplotypes of ABCB1, ARNT, CYP2C8, CYP1A2, CYP1B1, and IDH1.

ARNT

ALL

ARNT

ALL


Input: After ischemia, GADD34 protein levels were significantly increased in the cortex but not in the CA1 subfield, and these changes occurred earlier in SOD1 transgenic than in wild-type animals.

ischemia


Input: The prenatal diagnosis (PND) of severe hereditary skin diseases started in the early 1980s using fetal skin biopsy techniques based on ultrastructural and immunohistochemical abnormalities of the fetal skin.

PND

abnormalities


Input: We report a comparative analysis of the connections among 5-HT2CR editing, genome-wide gene expression and DNA methylation in suicide victims, individuals with major depressive disorder and non-psychiatric controls.

major depressive disorder

major depressive disorder


Input: Furthermore, the authors examined the alterations of other mitotic checkpoint genes, BUBR1, BUB3, MAD2B, and CDC20, using direct sequencing in HCC cell lines with aneuploidy.

aneuploidy


Input: We have assessed evidence for linkage and association involving polymorphisms in 10 circadian clock genes (ARNTL, CLOCK, CRY2, CSNK1epsilon, DBP, GSK3beta, NPAS2, PER1, PER2, and PER3) to BPAD.

BPAD

BPAD


Input: Barth syndrome is an X-linked disorder characterized by cardiomyopathy, skeletal myopathy, neutropenia, organic aciduria, and growth retardation caused by mutations in tafazzin.

tafazzin

organic aciduria


Input: We performed routine karyotyping, IGF2 gene sequencing and investigated DNA methylation of the IGF2 differentially methylated region (DMR) 0 and H19 DMR using pyrosequencing, in four women selected for very low birth weight (<-3 SDS for gestational age), precocious pubarche, short adult stature (<-2 SDS), and insulin resistance (defined as HOMA-IS < 80%); and compared their methylation results to those of 95 control subjects.

stature


Input: TRL-01 had the same immunophenotype as the original leukemia cells: positive for CD13, CD33, CD11a, CD18, CD29, CD49d, CD49e, CD54, CD62L, and CD117, and negative for CD3, CD4, CD8, CD19, CD34, CD41a, CD41b, CD135, and myeloperoxidase.

leukemia


Input: The CYP1B1 codon 432 polymorphism (CYP1B1 * 3) has been identified as a susceptibility factor in smoking-related head-and-neck squameous cell cancer.

smoking


Input: The results demonstrated that NAT activity percent of NAT in examined cells, gene expression (NAT1 mRNA) and AF-DNA adduct formation in human osteogenic sarcoma cells were inhibited and decreased by paclitaxel in a dose-dependent manner.

osteogenic sarcoma


Input: Interlaboratory trials on rabies diagnosis were organised in 2009 and in 2010 by the European Union Reference Laboratory (EURL) for rabies.

EURL

rabies


Input: The re-expression of CADM2 in the renal cancer cell line 786-O significantly suppressed tumor cell growth in vitro and in mouse xenografts by a G1 phase cell cycle arrest and the induction of apoptosis.

renal cancer


Input: We found elevated LPO-induced DNA damage in the liver of thalassemic mouse and in lymphocytes, implicating that massive DNA damage occurs in the liver of thalassemia patients.

LPO

thalassemia


Input: OVOL2 was also expressed in pilomatricoma, with only partial expression of OVOL1.

pilomatricoma

pilomatricoma


Input: Transcriptional targeted suicide gene (SG) therapy driven by the insulinoma-associated 1 (INSM1) promoter makes it possible to target suicide toxin production and cytotoxicity exclusively to small cell lung cancer (SCLC) cells and tumors.

suicide


Input: A defining characteristic of DSRCT is a specific chromosomal translocation, t (11; 22) (p13; q12), that fuses EWS with WT1, leading to a production of two isoforms of chimeric transcription factor, EWS/WT1 (-KTS) and EWS/WT1 (+ KTS).

EWS

chromosomal translocation


Input: Thus, APC2 is a crucial target of NSD1, which provides an explanation for the intellectual disability associated with Sotos syndrome.

Sotos syndrome

Sotos syndrome


Input: In mice mimicking human allergic bronchopulmonary aspergillosis, SP-A and SP-D suppressed IgE levels, eosinophilia, pulmonary cellular infiltration and cause a marked shift from a pathogenic Th2 to a protective Th1 cytokine profile.

SP-D

allergic bronchopulmonary aspergillosis


Input: The objective of this study was to explore the genetic polymorphisms and serum protein levels of MBL in Chinese pediatric patients with common infectious diseases, including recurrent respiratory infection (RRI), acute respiratory infection (ARI), active cytomegalovirus (CMV) infection, localized abscess, and otitis media.

ARI

otitis media


Input: Antagonism of P2Y12 or GPIIb/IIIa receptors reduces platelet-mediated myocardial injury after ischaemia and reperfusion in isolated rat hearts.

ischaemia


Input: Taken together, in the absence of information on human papillomavirus (HPV) infection, the TNFAIP8-rs11064 SNP may function by affecting the affinity of miR-22 binding to the 3'-UTR of TNFAIP8 and regulating TNFAIP8 expression, thus contributing to cervical cancer risk.

UTR

cervical cancer


Input: Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.

cystic fibrosis transmembrane conductance regulator

CF

cystic fibrosis transmembrane conductance regulator

CF


Input: The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.

GH receptor

Laron syndrome

GH receptor

Laron syndrome


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

metallothionein 3

NSCLC

metallothionein 3

NSCLC


Input: Lpin1 (1Hubr) rats developed hypomyelination and mild lipodystrophy rather than the pronounced demyelination and adipocyte defects characteristic of Lpin1 (fld/fld) mice, which carry a null allele for Lpin1.

mild


Input: To investigate the role of an impaired TPO gene expression in the pathogenesis of thrombocytopenia in pediatric patients suffering from liver failure, we measured hepatic TPO mRNA in children with acute or chronic end-stage liver disease undergoing orthotopic liver transplantation.

TPO

end-stage liver disease


Input: Furthermore, IFITM1 knockdown significantly inhibited migration and invasion of glioma cells, which could be attributed to decreased expression and enzymatic activity of matrix metalloproteinase 9.

glioma


Input: The administration of the anti-Mac-1-saporin antibody or the neutralizing anti-IL-18 antibody resulted in a dramatic attenuation of mucosal inflammation in this model.

mucosal inflammation


Input: OCTN2 expression is selectively reduced in dilated cardiomyopathy patients and predicts the impairment of cardiac function.

dilated cardiomyopathy

dilated cardiomyopathy


Input: Moreover, they provide additional in vivo evidence that C3a and C5a have divergent biological functions in Gram-negative bacteremia and shock.

shock


Input: We identified 70 genes that were recurrently mutated in Burkitt lymphomas, including ID3, GNA13, RET, PIK3R1 and the SWI/SNF genes ARID1A and SMARCA4.

Burkitt lymphomas

Burkitt lymphomas


Input: Together these findings identify germline ESR2 mutation as a novel cause of familial MTC/CCH and provide important insights into a novel mechanism causing increased RET expression in tumourigenesis.

MTC

MTC


Input: A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1.

multiple endocrine neoplasia type 1

multiple endocrine neoplasia type 1


Input: The findings provide the first evidence of an overactive Stat1-dependent gene network in asthmatic airways and a novel molecular link between mucosal immunity and inflammation.

inflammation


Input: In addition, her husband was found to be an asymptomatic carrier of GAS in his oropharynx.

GAS

asymptomatic


Input: Stratified analysis by occupational exposure showed a significant MN increase with smoking in occupationally exposed carriers of the Arg/Gln XRCC1 (399) genotype (P < 0. 001).

smoking


Input: Our data implied the involvement of the ifngr1 gene in susceptibility to tuberculosis.

ifngr1 gene

susceptibility to tuberculosis


Input: A small transient bradycardia was observed after i. c. v. administration of 10 micrograms of beta-endorphin (1-26), alpha, and gamma-endorphin.

beta-endorphin

bradycardia

beta-endorphin

bradycardia


Input: There is a considerable amount of evidence supporting a role for the 5-HT (7) receptor in depression.

5-HT (7

depression

5-HT (7

depression


Input: Whereas specific inhibition of mimitin expression did not affect cell proliferation in human cervical carcinoma, colon adenocarcinoma, and hepatocarcinoma cell lines, it did suppress cell proliferation in human glioblastoma, esophageal squamous cell carcinoma (ESCC), and embryonic lung fibroblastic cells, with the greatest suppression efficiency in ESCC cells.

mimitin

hepatocarcinoma


Input: Structural equation modeling showed that the covariation among EDR lability measures and resistance to specific EDR habituation operated through a single latent phenotype, which was influenced in approximately equal measure by genetic and unique environmental factors.

EDR

habituation


Input: Another TG mouse model expressing a constitutively activating mutant form of the follicle-stimulating hormone receptor (FSHR) presents with a strong ovarian phenotype inducing advanced follicular development and depletion, haemorrhagic follicles, teratomas and infertility.

FSHR

infertility


Input: Kaplan-Meier analysis of all 148 premutations showed that the age at menopause was significantly lower in the women with a PIP than in the woman with a MIP (Breslow test in Kaplan-Meier analysis; P =. 003).

PIP

age at menopause