Input: The group III family of metabotropic glutamate (mGlu) receptors (mGlu (4,) mGlu (7) and mGlu (8) receptors) remains the most poorly investigated of all glutamate receptors in this regard, despite early research efforts showing that they may be major players in stress-induced pathology, genetic vulnerability to the onset of depression and in the action of pharmacotherapies.

mGlu (7

depression

mGlu (7

depression


Input: We previously identified synovial mRNA expression of a set of chemokines (CCL19, IL-8, CCL5, XCL-1, CCR7) associated with synovitis in patients with meniscal tears but without radiographic OA.

synovitis


Input: Our results support the hypothesis that WS is caused by constitutional mutations in EZH2 that alter the histone methyltransferase function of PRC2.

WS

WS


Input: To identify antigenic differences between gliomas and normal brain, we have immunohistochemically studied the expression of lymphocyte adhesion molecules (ICAM-1, ICAM-2, ICAM-3, VCAM-1, E-selectin and CD58), epidermal growth factor receptor (EGFR) and extracellular matrix proteins (collagen IV, fibronectin, laminin, merosin, tenascin and vitronectin) in these tissues.

EGFR

adhesion


Input: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Intellectual Disability

Intellectual Disability


Input: Here, we show that the soluble form of the extracellular matrix proteoglycan decorin controls inflammation and tumor growth through PDCD4 (programmed cell death 4) and miR-21 (microRNA-21) by two mechanisms.

inflammation


Input: All genes performed well in the samples of patients with low disease activity, but HPRT1, β-actin, GAPDH and 18S rRNA ranked poorly in samples with severe fibrosis or inflammation.

β-actin

inflammation


Input: This study aimed to evaluate PRL and GH secretion after metoclopramide and thyrotrophin-releasing hormone (TRH) infusion in infertile patients with minimal/mild endometriosis.

TRH

mild


Input: Available data sets suggest that RalA mRNA is also overexpressed in seminoma, glioblastoma, and carcinomas of the liver, pancreas, and prostate.

RalA

glioblastoma


Input: These data suggest seizures induce formation of the Apaf-1/cytochrome c complex prior to caspase-9 activation and caspase-9 may be a potential therapeutic target in the treatment of brain injury associated with seizures.

cytochrome c

seizures


Input: These findings of CHK2 gene mutations are consistent with osteosarcoma being a defining tumor of Li-Fraumeni syndrome.

osteosarcoma

osteosarcoma


Input: Strikingly, genetic ablation of TRPA1 inhibited allergen-induced leukocyte infiltration in the airways, reduced cytokine and mucus production, and almost completely abolished airway hyperreactivity to contractile stimuli.

airway hyperreactivity

airway hyperreactivity


Input: Ovatodiolide suppresses yes-associated protein 1-modulated cancer stem cell phenotypes in highly malignant hepatocellular carcinoma and sensitizes cancer cells to chemotherapy in vitro.

yes-associated protein 1

hepatocellular carcinoma

yes-associated protein 1

hepatocellular carcinoma


Input: The frequency of proteinuria and the percentage of proliferative retinopathy among the patients with retinopathy was higher in those with active ALDH2 and superactive ADH2.

proteinuria


Input: Despite their low combined BRAF and NRAS mutation frequency, Spitz naevi showed strong MAPK pathway activation as measured by cytoplasmic expression of dually phosphorylated ERK1/2, while blue naevi had weak pathway activation.

naevi


Input: Twenty-three single nucleotide polymorphisms located within the OAS1, OAS2, OAS3, and OASL genes were analyzed in 142 patients with Russian tick-borne encephalitis.

encephalitis


Input: De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

histone acetyltransferase KAT6B

Genitopatellar syndrome

histone acetyltransferase KAT6B

Genitopatellar syndrome


Input: Elevated alanine aminotransferase levels were associated neither with the presence of viremia nor with the RIBA pattern.

RIBA

viremia


Input: Mutations of the EGFR and HER2 genes were more frequently found in female never or light-smoking patients with adenocarcinoma, and there were no tumors that had two or more mutations simultaneously among EGFR, HER2 and KRAS.

EGFR

smoking


Input: Polymorphisms in ERCC5, RAD52, MUTYH and LIG3 correlated with the occurrence of severe neutropenia.

MUTYH

neutropenia


Input: Further, the count of CCR2 + PBMCs and CCR2 mRNA transcript in PBMCs was significantly lower in severe and moderate ALS as compared to ALS patients with mild impairments.

mild


Input: Currently, a meta-analysis is ongoing; its result will contribute to the evaluation of the importance of the INSIG2 polymorphism in body weight regulation.

body weight


Input: Using ChIP-chip analysis, we identified cell migration and adhesion genes, including Tsp-1/THBS1, ING4, PVRL3, and PPAP2B, as Myc-bound loci in medulloblastoma cells.

medulloblastoma


Input: Further analyses do not support mediating roles for smoking, alcohol consumption or physical activity but suggest that CD8 + CD28-cell telomere length may act as a partial mediator of the associations between childhood SES and infection and childhood SES and colds.

alcohol consumption


Input: To date, 11 NOD2 gene mutations causing Blau syndrome have been described.

Blau syndrome

Blau syndrome


Input: Proteolytic activity of the mucosa-associated lymphoid tissue lymphoma translocation protein-1 (MALT1) paracaspase is required for survival of the activated B cell subtype of diffuse large B cell lymphoma (ABC-DLBCL).

paracaspase

translocation


Input: These results demonstrated that microinjection of HSV-1 amplicon vector-mediated hPPE into the ventral PAG attenuates neuropathic pain in rats.

PAG

neuropathic pain


Input: In contrast, NEC/mono-DC co-cultures using NEC from smokers contained increased influenza-induced concentrations of the Th2 chemokine thymic stromal lymphopoeitin (TSLP).

TSLP

influenza


Input: Spectral karyotyping-fluorescent in situ hybridization (SKY-FISH) analysis showed no abnormal translocation; however, a bcr/abl fusion gene was detected by reverse transcriptase-polymerase chain reaction analysis.

SKY

translocation


Input: We assessed the relationships of the MRI and mammographic measures to one another, to standard anthropometric and hormonal factors, to BRCA1/2 genetic status, and to breast cancer risk (60 cases) using linear and Poisson regression.

MRI

breast cancer


Input: We have previously reported that increased messenger RNA (mRNA) stability contributes to the elevated steady state levels of bFGF mRNA in human U87-MG glioma cells.

glioma


Input: The t (8; 21) translocation fuses the DNA-binding domain of the hematopoietic master regulator RUNX1 to the ETO protein.

translocation


Input: Of the 13 cervical cancer-specific RAR, RAR gain in the 1p36. 22 locus where the PGD gene is located was the most commonly detected in cancers (P = 0. 004).

RAR

cervical cancer


Input: The dynamin-related GTPase OPA1 is mutated in autosomal dominant optic atrophy (DOA) (Kjer type), an inherited neuropathy of the retinal ganglion cells.

DOA

DOA


Input: Copy number aberration, translocation and point mutation of FAT1, FAT2, FAT3, FAT4, FRMD1, FRMD6, NF2, WWC1, WWC2, SAV1, STK3, STK4, MOB1A, MOB1B, LATS1, LATS2, YAP1 and WWTR1/TAZ genes should be comprehensively investigated in various types of human cancers to elucidate the mutation landscape of the FAT‑Hippo signaling cascades.

translocation


Input: Decreased infarct size and reduced fibrosis were observed in the ILK-MSC-CM group.

MSC

infarct


Input: We previously found an R83H missense mutation in MiRP2 that segregated with periodic paralysis in two families and diminished the effects of MiRP2 on Kv3. 4.

Kv3. 4

periodic paralysis


Input: Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.

Coffin-Lowry syndrome

Coffin-Lowry syndrome


Input: In this study we tested hypothesis that aberrant p16 might cooperate with inactive PTEN during pathogenesis of NSCLC, particularly in promoting tumor aggressiveness and invasiveness.

PTEN

aggressiveness


Input: Logistic regression models including age, gender, education, smoking and drinking status, Helicobacter pylori infection and ALDH2 genotype were evaluated to estimate the adjusted odds ratios (ORs) for the development of gastric cancer.

smoking


Input: Acute myeloid leukemia possessing jumping translocation is related to highly elevated levels of EAT/mcl-1, a Bcl-2 related gene with anti-apoptotic functions.

translocation


Input: The relationship of NAT2, CYP2E1 and GSTM1/GSTT1 polymorphisms with mild elevation of liver biomarkers was investigated in individuals under anti-tuberculosis drug therapy.

mild


Input: These data do not support the association between ACE I/D genotype and ARDS, although severe hypoxemia was less frequent in D allele carriers.

ACE

hypoxemia


Input: We analyzed the effects of LTC4S-444 A/C, ALOX5-176/-147, and ALOX5AP-169/-146 on asthma susceptibility by means of a case-control study with 193 ethnically matched, unrelated individuals.

asthma susceptibility


Input: In this paper we describe the full-length cloning and characterization of human CADPS and CADPS2, two new homologs of the mouse Cadps protein involved in large dense-core vesicle (LDCV)-regulated exocytosis.

vesicle


Input: Endorsing the expectation of a more intense response on one or more of the following items from the SHAS-E: buzzed, clumsy, dizzy, drunk, effects, high, nausea, sleepy, talkative, terrible, and/or uncomfortable after imbibing 2-3 drinks was significantly associated with having at least one minor allele for at least one of 7 SNPs (p & lt; 0. 01) in the OPRM1 receptor gene.

drunk

drunk


Input: To study such patterns in Barrett' s metaplasia and squamous cell carcinoma of the oesophagus (SCC), the distribution of MUC1, MUC2, MUC5AC and the three TFF peptides (TFF1, TFF2 and TFF3) was investigated.

squamous cell carcinoma


Input: Recently, PCT has also been associated with mutations in the HFE gene that are associated with HLA-linked hereditary hemochromatosis.

HFE

hemochromatosis

HFE

hemochromatosis


Input: Loss of annexin II heavy chain appears to be specific for prostate cancer since overexpression of annexin II is observed in a majority of human cancers, including pancreatic cancer, breast cancer and brain tumors.

heavy chain

brain tumors


Input: Thus, inappropriate activation of PKR as a consequence of certain FA mutations might play a role in bone marrow failure that frequently occurred in FA.

PKR

bone marrow failure


Input: Furthermore, rat transplanted with EPCs transfected with TERT showed significantly reduced renal interstitial fibrosis and increased endogenous creatinine clearance rate and peritubular MVD (p < 0. 05).

MVD

renal interstitial fibrosis


Input: Interventions improving insulin sensitivity--exercise and bariatric surgery--were associated with a significant (p < 0. 001) reduction in WAT NNMT expression.

NNMT

insulin sensitivity


Input: For lobar pneumonia, children with pleural effusion showed higher levels of VEGF than those without pleural effusion.

VEGF

lobar pneumonia


Input: In conclusion, our study demonstrates that gastrin precursors, known to promote colon epithelial cells proliferation and survival can also contribute to the angiogenesis process by stimulating the expression of the proangiogenic factor VEGF via the PI3K pathway and independently of hypoxia conditions.

VEGF

hypoxia


Input: After adjusting for body mass index, CYP2C9 * 2 was the only polymorphism associated with ALT, AST, and DILI (β = 2. 16, P = 0. 024; β = 1. 92, P = 0. 016; odds ratio 95% CI = 2. 29-∞, P = 0. 003, respectively).

AST

body mass index


Input: The chronic heart failure-rescuing properties of myocardial S100A1 expression, the result of improved sarcoplasmic reticulum Ca2 + handling, included improved contractile function and left ventricular remodeling.

ventricular remodeling


Input: Our study provides strong evidence that Gent inhibits reserpine-induced pain/depression dyad by downregulating GluN2B receptors in the amygdala.

depression

depression


Input: Nonetheless, gene-based tests identified four genes significantly associated with lifetime cannabis use: NCAM1, CADM2, SCOC and KCNT2.

cannabis


Input: Thus our study demonstrates that Clc-1 RNA translation defects work coordinately with Clc-1 splice errors to synergistically enhance myotonia in mice lacking Mbnl1 and Mbnl3.

myotonia


Input: Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

recessive dystrophic epidermolysis bullosa

recessive dystrophic epidermolysis bullosa


Input: We sought to determine whether molecular abnormalities involving the IKZF1 gene were associated with resistance to tyrosine kinase inhibitors (TKIs) in Ph + acute lymphoblastic leukemia (ALL) patients.

IKZF1 gene

abnormalities


Input: This suggests that Dgcr8-microRNA-Drd2-dependent thalamocortical disruption is a pathogenic event underlying schizophrenia-associated psychosis.

psychosis

psychosis


Input: One hundred and twenty-four Australian patients with sporadic melanoma and 62 with familial basal cell carcinomas (a feature of nevoid basal cell carcinoma syndrome, NBCCS) were examined for germline homozygous deletions of GSTM1 using multiplex polymerase chain reactions.

sporadic


Input: Pan-caspase and caspase-3 inhibitors reduced cellular death (necrosis and apoptosis) 24 h after Gly-ARF.

ARF

necrosis


Input: Abca12 deficiency caused an accumulation of cholesterol in macrophages and the formation of foam cells, impaired reverse cholesterol transport in vivo, and increased the development of atherosclerosis in irradiated Apoe (-/-) mice reconstituted with Apoe (-/-) Abca12 (-/-) bone marrow.

foam cells


Input: Based on these data, we conclude that, though not causative, CFHR5 genetic alterations may play a secondary role in the pathogenesis of HUS.

secondary


Input: Silencing TACE expression in HeLa cells decreased their malignancy by decreasing the proliferation, adhesion and migration, as well as inducing apoptosis in these cells.

TACE

adhesion


Input: FISH analysis using a hotspot tumor tissue microarray of 37 paraffin-embedded neuroblastoma samples and in silico data mining for gene expression information obtained from previously published studies including up to 445 healthy nervous system samples and 123 neuroblastoma samples were used to evaluate the clinical significance and transcriptional consequences of the detected alterations and to identify subsequently activated gene (s).

FISH

neuroblastoma


Input: Additionally, lower HDL-cholesterol levels and smoking were related to MCI when assessed 7 years prior to baseline.

MCI

smoking


Input: We found that a single nucleotide polymorphism in the CAMK4 promoter was significantly associated with cocaine addiction, whereas variations in the CREB promoter regions did not correlate with drug abuse.

cocaine addiction

cocaine addiction


Input: The inhibition of macrophage ADAMTS-4 expression is likely to contribute to the anti-atherogenic, plaque stabilisation action of TGF-β.

TGF-β

plaque


Input: The exogenous administration of Insulin-like Growth Factor-I (IGF-I) induces hepatoprotective and antifibrogenic actions in experimental liver cirrhosis.

Insulin-like Growth Factor-I

experimental liver cirrhosis

Insulin-like Growth Factor-I

experimental liver cirrhosis


Input: Using a combination of loss-and gain-of-function approaches, we find that MMP13 is the cause of RKIP-mediated inhibition of local cancer invasion.

local cancer


Input: Furthermore, Hif2a heterozygosity resulted in partial protection against vascular remodeling, hemorrhage, and edema, but not inflammation, in VhlR/R lungs, suggesting a selective role for HIF-2alpha in the pulmonary pathology and thereby providing insight into the mechanisms underlying pulmonary hypertension.

vascular remodeling


Input: The finding of PVOD associated with a BMPR2 mutation reveals a possible pathogenetic connection with PPH.

PVOD

PVOD


Input: In this study, we demonstrate increased expression and production levels of VEGF in myeloma compared to non-myelomatous hematological lines, resistance to hypoxia and enhancement of VEGF-A production by hypoxia in myeloma, and direct growth inhibition of myeloma cells due to apoptosis and G1 arrest caused by TNFalpha upregulation induced by thalidomide.

VEGF-A

hypoxia


Input: We investigated the different effects of ALDH2 genotypes on the risk of cerebral infarction between the genders, because different genders had different smoking and/or dinking status which are also risk factors for cerebral infarction.

smoking


Input: Antiproliferative effects of EGFR tyrosine kinase inhibition and radiation-induced genotoxic injury are attenuated by adhesion to fibronectin.

EGFR

adhesion


Input: Pathologic TAR-DNA-binding protein 43 (TDP-43) is a disease protein in frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) and amyotrophic lateral sclerosis.

DNA-binding protein

amyotrophic lateral sclerosis


Input: This prospective study quantifies the response of hemoglobin and other blood factors to Epoetin alpha (EPO) administration in the course of pre-operative chemotherapy in breast cancer.

EPO

hemoglobin


Input: Furthermore, TSA reduced both basal levels and hypoxia-induced HIF-1α protein accumulation but not HIF-1α mRNA levels, and both protein and mRNA levels of VEGF expression.

VEGF

hypoxia


Input: Variations in the capsid protein (p24) had the strongest associations with the viral load and CD4 cell count.

viral load


Input: PON1 activity, plasma lipids, the titer of autoantibodies against malondialdehyde (MDA)-modified LDL, and atherosclerosis in AdPON1 mice were compared with these in mice that received a control recombinant adenovirus (AdRR5).

adenovirus


Input: We validated ZBTB20, CELF2, PARD3, AKAP13 and WAC, which were identified by our screens in multiple cancer types, as new tumor suppressor genes in prostate cancer.

prostate cancer

prostate cancer


Input: We examined the association of androgen receptor gene cytosine-adenine-guanine (CAG) repeat length and the 2 single nucleotide polymorphisms A49T and V89L in the type II 5 alpha-reductase gene with prostate enlargement measured as the weight of the surgically removed prostate.

androgen receptor gene

weight


Input: This current study is the first to find an interaction between OPRM1 and life stress that is associated with depression.

depression

depression


Input: Thirty-four biopsied muscles of Duchenne, Becker and congenital muscular dystrophy, congenital myotonic dystrophy and amyotrophic lateral sclerosis were examined by an immunocytochemical method with an anti-dystrophin-related protein (DRP) antibody.

DRP

congenital muscular dystrophy


Input: Moreover, 16 of the 32 patients analyzed by FISH were found to be positive for the presence of i (17q): the 2 with teratoid/rhabdoid tumors, 11 of 16 with medulloblastomas, plus 1 with ependymoblastoma and 2 with anaplastic astrocytomas.

FISH

ependymoblastoma


Input: The secretion of IL-10 by peripheral blood mononuclear cells (PBMC) and the expression of IL-10 mRNA in fractionated CD4 + and CD8 + lymphocyte subsets and non-B-non-T cells, with and without stimulation by the mitogen phytohemagglutinin-C (PHA-C) and specific Echinococcus multilocularis (E. multilocularis) antigens, were assessed in 7 patients with alveolar echinococcosis (AE) and 6 healthy subjects.

alveolar echinococcosis


Input: At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and schizophrenia, 10 of which are present at polymorphic frequencies.

PRODH

HPI

PRODH

HPI


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

bipolar disorder

bipolar disorder


Input: Allograft animals that received 5 microg/day of recombinant IL-10 as a constant infusion on day 14 showed almost complete preservation of respiratory epithelium and only mild peribronchial inflammation with only a 15% reduction in airway cross-sectional area.

mild


Input: Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2.

keratin 17

pachyonychia congenita type 2

keratin 17

pachyonychia congenita type 2


Input: CXCR4 expression, analyzed by real-time PCR and Western blot, was increased in human chondrosarcoma cell line JJ compared with normal chondrocytes and was further increased in JJ by hypoxia (2% O2), vascular endothelial growth factor A (VEGFA; 10 ng/mL), and in xenograft tumors in nude mice.

VEGFA

hypoxia


Input: A novel gene associated with nanophthalmos, TMEM98 most likely represents the cause of the disease in this family.

nanophthalmos

nanophthalmos


Input: A number of the genes found were involved in known pathways controlled by RORα, for instance LPA, NR1D2 and ADIPOQ in lipid metabolism, ADIPOQ and PLG in inflammation, PLG in fibrinolysis and NR1D2 and NR1D1 in circadian rhythm.

ADIPOQ

circadian rhythm


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

VEGF

hypoxic


Input: Neither netrin-1 protein nor mRNA was associated with the glial scar, but netrin-1 was expressed by neurons and oligodendrocytes immediately adjacent to the lesion.

scar


Input: The results from this study indicate that methylation of THBS1 and GATA-4 occurs in the early stages of chronic gastritis and gastric cancer in association with H. pylori infection; however, in gastric cancer samples, other mechanisms cooperate with the down-regulation of these genes.

GATA

chronic gastritis


Input: These results demonstrate that increased adiposity enhances the production of thrombin in adipose tissue by stimulating factor VII expression and suggest that increased thrombin activity in adipose tissue plays an important role in the development of insulin resistance via enhancing MCP-1 production, leading to macrophage infiltration and insulin receptor substrate-1-Akt pathway inactivation.

factor VII

insulin resistance


Input: Kv12. 2-/-(also known as Kcnh3-/-) mice showed signs of persistent neuronal hyperexcitability including frequent interictal spiking, spontaneous seizures and increased sensitivity to the chemoconvulsant pentylenetetrazol.

seizures


Input: Furthermore, injection of SIRT1 lentivirus in the hippocampus of p25 transgenic mice conferred significant protection against neurodegeneration.

neurodegeneration

neurodegeneration


Input: We here investigated the anticancer mechanism of 1-stearoyl-sn-glycero-3-phosphocholine (LPC), one of the lysophosphatidylcholines, in chronic myelogenous leukemia (CML) K562 cells.

LPC

chronic myelogenous leukemia


Input: High expression of TRF2, SOX10, and CD10 in circulating tumor microemboli detected in metastatic melanoma patients. A potential impact for the assessment of disease aggressiveness.

aggressiveness


Input: Abnormal DNA methylation of ITGAL (CD11a) in CD4 + T cells from infants with biliary atresia.

biliary atresia


Input: Seventy-three patients, aged 52. 4 ± 15. 4 years, with a body mass index of 25. 2 ± 4. 1 kg/m (2), mean ± SD, were grouped into sporadic, cluster 1 (SDHx, VHL) and cluster 2 (RET, NF1, MAX) mutations.

MAX

sporadic


Input: Transcription of HERV-W, ERV9 and HERV-K (HML-2) taxa was further quantified in postmortem brain samples of patients with schizophrenia, bipolar disorders and a healthy control group with regard to their medication.

bipolar disorders

bipolar disorders


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

muscular dystrophy


Input: We also showed that SIM attenuated cardiac hypertrophy in rats with pressure overload due to abdominal aortic constriction by measuring such parameters as systolic blood pressure, ratio of heart weight to body weight and ratio of left ventricular weight to body weight in rats as well as cross-sectional area of cardiomyocytes.

SIM

systolic blood pressure


Input: Double-hit lymphoma (DHL) has been defined by others as a B-cell lymphoma with MYC/8q24 rearrangement in combination with a translocation involving another gene, such as BCL2, BCL3, or BCL6.

translocation


Input: MOST-1 displayed cytoplasmic localization in four human cell lines (hTERT-HME1 normal mammary epithelial, MCF7 breast adenocarcinoma, PrEC normal prostate epithelial and DU145 prostate carcinoma), with polar expression during cell division.

prostate carcinoma


Input: Moreover, whereas the association between DRB1 * 0402 and pemphigus vulgaris (p < 0. 0001) has been confirmed, no significant association between a specific allele of the DR4 group and pemphigus foliaceus, has been found.

pemphigus vulgaris


Input: Comparison of miRNAs affected by Ago2 deficiency with miRNAs that are enriched and/or up-regulated in Drd2-neurons in response to cocaine identified a set of miRNAs that are likely to play a role in cocaine addiction.

cocaine addiction

cocaine addiction


Input: Here, we investigate the expression of Bcl-2/adenovirus E1B 19 kd-interacting protein 3 (BNIP3), a proapoptotic Bcl-2 family member, and its relationship to hypoxia in cervical cancer cell lines and clinical samples of cervical cancer.

adenovirus


Input: The association between 10 polymorphisms tagging SELS and coronary (CAC), carotid (CarCP) and abdominal aortic calcified plaque, carotid intima media thickness and other known CVD risk factors was examined in 1220 European Americans from the family-based Diabetes Heart Study.

CAC

plaque


Input: FISH abnormalities of genes implicated in familial cancer, tumor progression, and the 5-fluorouracil pathway were common but were not associated with specific types of pancreatic cancer.

FISH

familial cancer


Input: Deletion of the hypoxia-response element in the vascular endothelial growth factor (VEGF) promoter causes motor neuron degeneration in a mouse model.

VEGF

hypoxia


Input: MYC was one of the first oncogenes identified to be associated with chromosomal aberrations and one of the most common oncogenes involved in the pathogenesis of cancer.

MYC

chromosomal aberrations


Input: An influence of alleles of the DRD4 on the development of AN, underweight, or extreme early onset obesity was not detected.

underweight


Input: Five of 9 patients were clinically diagnosed as atypical CHARGE syndrome but demonstrated various mutations of the CHD7 gene.

CHARGE syndrome

CHARGE syndrome


Input: In conclusion, transcriptional synergy between STAT3 and NFκB functions to put weight on FAT10 in the mutually inhibitory FAT10-p53 regulatory loop and thus favors tumorigenesis under inflammatory conditions.

tumorigenesis


Input: Paternally-inherited Sgce heterozygous knockout (Sgce KO) mice exhibit myoclonus, motor impairment and anxiety-and depression-like behaviors, modeling several clinical symptoms observed in DYT11 M-D patients.

depression

depression


Input: There were no significant associations with age, serum calcium, serum PTH, bone mineral density, or parathyroid tumor weight.

PTH

bone mineral density


Input: Importantly, Epac1 expression was also reduced in lung tissue from COPD patients.

COPD

COPD


Input: BAGE hypomethylation, a new epigenetic biomarker for colon cancer detection.

BAGE

colon cancer


Input: Thus, this study aimed to investigate whether PMFs are involved in the induction of tumoral L1CAM and whether this contributes to malignant transformation of pancreatic ductal cells and PDAC tumorigenesis.

tumorigenesis


Input: Surprisingly, the review shows that HCMP was present in only about 50% of the SCO2 patients with non-neonatal onset.

neonatal onset


Input: We previously reported specific genotypes of polymorphisms in two genes, tumor necrosis factor-alpha (TNF-alpha-238G > A) and Apolipoprotein E (ApoE e2), as independent predictors of new intracranial hemorrhage (ICH) in the natural course of untreated brain arteriovenous malformations.

Apolipoprotein E

intracranial hemorrhage


Input: The increase of malondialdehyde concentration in plasma and 8-hydroxydeoxyguanosine in serum and Cu/Zn superoxide dismutase activity in erythrocyte lysate of pregnants with IUGR, reinforced by smoking, was revealed.

Cu/Zn superoxide dismutase

IUGR

Cu/Zn superoxide dismutase

IUGR


Input: Functional analysis of GNG2 in human malignant melanoma cells.

malignant melanoma


Input: Activation of astrocytes has been linked to neuronal injury in manganism resulting from overproduction of inflammatory mediators, including tumor necrosis factor-alpha (TNFalpha), interferon-gamma (IFNgamma), interleukin-1beta (IL-1beta), and nitric oxide (NO), but the signaling mechanisms by which Mn regulates these factors remain poorly understood.

interferon-gamma

manganism

interferon-gamma

manganism


Input: IGF-IR gene anomalies presenting with intrauterine and postnatal growth retardation have recently been reported in some families.

IGF

postnatal growth retardation


Input: We also compared levels of HtrA proteins in follicular thyroid carcinoma (FTC) and papillary thyroid carcinoma (PTC) and found that these types of carcinoma differed in the expression of HtrA3-S and HtrA1.

papillary thyroid carcinoma


Input: Analyses of congenic mice indicated that at least two loci, Psl1. 1 and Psl1. 2, map to distal chromosome 9 and confer susceptibility to skin tumor promotion by TPA.

tumor promotion


Input: In human colorectal adenoma and carcinoma cell lines, downregulation of β-catenin resulted in lower total DR4 and DR5 protein levels.

colorectal adenoma


Input: Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets.

vitamin D receptor

hereditary vitamin D resistant rickets

vitamin D receptor

hereditary vitamin D resistant rickets


Input: However, little is known about the relationship between the EMT and the multidrug-resistance gene in thyroid tumor progression.

EMT

tumor progression


Input: The clinical presentations of 17β hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency, 5α-reductase type 2 deficiency, and complete androgen insensitivity syndrome can be similar.

complete androgen insensitivity syndrome


Input: A pedigree analyses of HGF; and the ultrastructure of gingival overgrowth tissue was observed with electron microscopy.

HGF

gingival overgrowth


Input: In a survival analysis, patients homozygous for CYP2B6 * 5 (n = 3) or CYP2C19 * 2 (n = 4) had a higher probability of reaching ESRD (P = 0. 0005) and of doubling the creatinine level (P = 0. 0005) as well as a trend toward a lower probability of achieving a complete renal response (P = 0. 051).

ESRD

ESRD


Input: According to studies in European, North American, Australian, and Asian populations, FUS gene mutations occur in 0. 6-20. 2% of the patients with familial amyotrophic lateral sclerosis (ALS) and 0. 4-2. 0% of sporadic ALS cases.

FUS gene

sporadic


Input: Taken together, our findings suggest HPV16 induces EMT-like processes via induction of the EMT transcription factors which may contribute to tumor progression and metastasis.

EMT

tumor progression


Input: Stable over-expression of ADAMTS16 in chondrosarcoma cells led to a decrease in cell proliferation and migration, though not adhesion, as well as a decrease in the expression of matrix metalloproteinase-13 (MMP13).

adhesion


Input: Further studies should be carried out on the 5-HT1D binding site as it might represent a new tool in the understanding of the depressive illness.

depressive illness

depressive illness


Input: In this study, we investigated whether polymorphisms in AKT1 affect susceptibility to tuberculosis (TB).

susceptibility to tuberculosis


Input: Our investigations document that human thyroid cancer cell lines commonly express PPARgamma, but chromosomal translocations involving PPARgamma are uncommon.

PPARgamma

thyroid cancer

PPARgamma

thyroid cancer


Input: In contrast to the skin lesions, bone marrow infiltrates of patients with systemic mastocytosis showed only low or absent immunoreactivity for bcl-2, but marked expression of bcl-xL.

bcl-xL

skin lesions


Input: Inhibition of xCT, GCLM, FoxO3, or Nanog blocks chemotherapy-induced enrichment of BCSCs and impairs tumor initiation.

GCLM

tumor initiation


Input: In PCOS patients, visceral HSD11B1 expression correlated positively with waist circumference (p = 0. 001), BMI (p = 0. 002), plasma insulin (p < 0. 05), systolic blood pressure (p = 0. 003), and lipoprotein lipase (LPL), hormone-sensitive lipase (LIPE) and peroxisome-proliferator activated receptor γ gene expression.

LIPE

systolic blood pressure


Input: The European at-risk alleles at five loci including GNPDA2, BCDIN3D/FAIM2, SH2B1, FTO, and KCTD15 were significantly associated with increased body mass index (BMI), waist circumference (4. 5 x 10 (-8) < P < 0. 024), and/or obesity risk (odds ratio 1. 14-1. 22, 2. 0 x 10 (-5) < P < 0. 002) in our Chinese populations.

body mass index


Input: CONCLUSION: Methylation changes of GFRA1, SRF, and ZNF382 may be a potential biomarker set for prediction of gastric carcinoma metastasis.

gastric carcinoma


Input: Analgesia requires repeated administrations of ALC, suggesting that the drug regulates neuroplasticity across the pain neuraxis.

ALC

pain


Input: Mice hemizygous for the knockin allele (EA2/-mice) did exhibit motor dysfunction measurable by rotarod and pole test.

motor dysfunction


Input: Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.

SPRTN

genomic instability

SPRTN

genomic instability


Input: Several mutations have been described in the human androgen receptor gene including constitutional mutations in androgen insensitivity syndrome, somatic mutations in prostate cancer and triplet expansions in Kennedy' s disease (Gottlieb et al. 1997).

androgen receptor

androgen insensitivity syndrome

androgen receptor

androgen insensitivity syndrome


Input: The qRT-PCR results confirmed that 17 of the 66 selected genes, which were up-or down-regulated more than 10-fold by miR-197, were consistent with the microarray results, including tumorigenesis-related genes, such as DRT7, SLC549, SFMBT2, FLJ37956, FBLN2, C10orf35, HOXD12, CACNG7, and LOC100134279.

tumorigenesis


Input: Thus, the hitherto uncharacterized ZKSCAN3 adds to an expanding set of encoded products contributing to the progression of colorectal cancer.

colorectal cancer

colorectal cancer


Input: We describe a syndrome of thrombocytopenia, bleeding episodes, congenital heart disease and facial dysmorphism in a newborn infant, and trace the cause to mutations on chromosome 22 that involve the gene for platelet glycoprotein Ib beta (GPIb beta, Human Genome Organisation gene symbol GPIBB), a critical component of the von Willebrand factor (vWF) receptor.

GPIBB

thrombocytopenia

GPIBB

thrombocytopenia


Input: Plakoglobin-dependent disruption of the desmosomal plaque in pemphigus vulgaris.

Plakoglobin

pemphigus vulgaris


Input: FISH analysis confirmed a disease-associated germinal deletion on 22q which encompassed the NEFH locus, which is known to be very closely linked to NF2, but did not extend as far as the proximal Ewing sarcoma region or the distal leukaemia factor (LIF) locus.

FISH

leukaemia


Input: To understand the relationship between Trx and hypoxia-induced angiogenesis, we observed the expression level of VEGF and hypoxia-inducible factor-1alpha (HIF-1alpha) after transfection of Trx.

VEGF

hypoxia


Input: NGF expression was lower in the F1 liver fibrosis stage, and p75NTR receptor expression continuously and proportionately increased compared to the increase in the degree of fibrosis and was significantly higher in livers in fibrosis stages 3 and 4.

NGF

fibrosis


Input: DEC1 expression is found in the majority of 1p-aberrant oligodendroglial neoplasms and does not correlate with necrosis or expression of HIF-1alpha, CA9, VEGF.

VEGF

necrosis


Input: Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: In this study, transfection of siRNA against-9/+ 10 bp (siH3), but not-174/-155 bp (siH1) or-134/-115 bp (siH2) region relative to transcription start site (TSS) locating at 101 bp upstream of the translation start site, resulted in TGS of heparanase in human prostate cancer, bladder cancer, and gastric cancer cells in a sequence-specific manner.

TGS

gastric cancer


Input: In this study, we reported that, in wild-type retinas, somatostatin, the multireceptor ligand pasireotide and the sst (2) agonist octreotide decreased ischaemia-induced cell death and that octreotide also decreased glutamate release.

somatostatin

ischaemia

somatostatin

ischaemia


Input: Foxp3 (-/ATT) polymorphism contributes to the susceptibility of preeclampsia.

preeclampsia


Input: We have previously shown that Aldh3a1 knockout mice in a C57B6/129sV mixed genetic background develop lens cataracts.

cataracts

cataracts


Input: This was lower than the prevalence of abnormalities in the exons of the PRSS1 gene (51. 92%): 12 patients with c. 361 G--> A, eight patients with c. 415 T--> A, and five patients with c. 365G--> A.

PRSS1 gene

abnormalities


Input: An important diagnostic feature of MMR-deficient tumors is the high rate of mutations that accumulate in repetitive nucleotide regions, and these mutations are known as microsatellite instability (MSI).

MMR

microsatellite instability


Input: We discuss the roles of BubR1 in the SAC and the implications of BubR1-mediated interactions that protect against aneuploidy.

SAC

aneuploidy


Input: We report that GRP-R regulates glucose metabolism in neuroblastoma by modulating HIF-1α, PDK4 and PDP2.

neuroblastoma


Input: In our study, we report the discovery of six novel missense mutations in the TUBB3 gene, including one fetal case and one homozygous variation, in nine patients that all share cortical disorganization, axonal abnormalities associated with pontocerebellar hypoplasia, but with no ocular motility defects, CFEOM3.

pontocerebellar hypoplasia


Input: Taken together, the findings suggest that ZNRD1 could act as a modulator of methotrexate chemotherapy in gastric cancer cells through the regulation of IMPDH2 and Bcl-2.

gastric cancer

gastric cancer


Input: Blockage of LIF expression or biological function can inhibit in vitro growth and induce differentiation-like phenotypes of medulloblastoma cells (Med-3), suggesting a redifferentiation potential of Med-3 cells when intrinsic dedifferentiation factor (s) is suppressed or external differentiation element (s) is exerted.

LIF

dedifferentiation


Input: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.

PAH

phenylketonuria

PAH

phenylketonuria


Input: Decreased BDNF, trkB-TK + and GAD67 mRNA expression in the hippocampus of individuals with schizophrenia and mood disorders.

mood disorders

mood disorders


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

psychosis

psychosis


Input: Together, these results suggest that elevated SRPK1 expression may play a role in ovarian tumorigenesis and SRPK1 may be a potential target for ovarian cancer therapy.

tumorigenesis


Input: These results identify a miRNA that targets both FGF2 and VEGFA in cancers, demonstrate the anti-angiogenesis role of miR-503 in tumorigenesis, and provide a novel mechanism for hypoxia-induced FGF2 and VEGFA through HIF1α-mediated inhibition of miR-503.

VEGFA

hypoxia


Input: In this report, we describe the methods of the IRAS Family Study, which was designed to identify the genetic and environmental risk factors for insulin resistance and visceral adiposity.

IRAS

insulin resistance


Input: The primary SS patients fall into two distinct groups: those with extraglandular disease in whom lymphopaenia, hypergammaglobulinaemia, antibodies to Ro and/or La and HLA DR3 were all more frequent and those patients with either glandular disease alone or only one extraglandular feature.

hypergammaglobulinaemia


Input: The product of the Wilson disease gene is a copper transporting P-type ATPase (ATP7B).

Wilson disease

Wilson disease


Input: These syndromes include congenital PNH (such as inherited complete CD59 deficiency and PNH with PIG-M mutations), because complement-mediated hemolysis and thrombosis are observed in association with defects of various factors associated with the complement regulatory pathway, including biosynthesis of the glycosylphosphatidylinositol (GPI) anchor.

GPI

hemolysis


Input: All four GNA11 mutations predicted disrupted protein structures, and assessment on the basis of in vitro expression showed that familial hypocalciuric hypercalcemia type 2-associated mutations decreased the sensitivity of cells expressing calcium-sensing receptors to changes in extracellular calcium concentrations, whereas autosomal dominant hypocalcemia type 2-associated mutations increased cell sensitivity.

autosomal dominant hypocalcemia

autosomal dominant hypocalcemia


Input: However, it is unknown to what extent ClC-7 function has to be reduced to become rate-limiting for bone resorption.

bone resorption


Input: Increased airway epithelial cell expression of CGRP, together with increased CCL17 expression, was previously observed in a model of provoked asthma in atopic human subjects.

CGRP

atopic


Input: We identify a total of 97 SMGs, including 70 not previously implicated in prostate cancer, such as the ubiquitin ligase CUL3 and the transcription factor SPEN.

SPEN

prostate cancer

SPEN

prostate cancer


Input: We further show that G-richness does not characterize translocation breakpoints in AID-negative B-and T-cell malignancies.

AID

translocation


Input: IFN-gamma genotype was related to severity of lower respiratory illness, duration of ICU stay, and frequency of otitis media.

IFN

otitis media


Input: Furthermore, the expression of the miR-200b gene targets ZEB1/2, GATA2, and KDR was confirmed by qRT-PCR as being lower in obese patients with periodontitis versus normal weight patients, suggesting a role of miR-200b in regulation of a set of gene targets and biological pathways relevant to wound healing and angiogenesis.

KDR

obese


Input: Dermatopontin (DPT) was recently found as a downstream target of vitamin D receptor, which is a key molecule in the 1, 25-dihydroxy-vitamin D (3) anti-hepatoma proliferation pathway.

DPT

hepatoma


Input: Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).

intellectual disability

intellectual disability


Input: To test whether PPT could restore ligand-dependent receptor activation, ENERKI females were treated with PPT and evaluated for spontaneous ovulation, ovarian hemorrhagic cysts, and LH serum levels.

PPT

cysts


Input: Within the hypothalamus, NPY plays an essential role in the control of food intake and body weight.

NPY

body weight


Input: The expression of mPGES-1 was strongly up-regulated in the brain and spinal cord during inflammation, whereas no change was detected for the expression of cPGES, mPGES-2, COX-1, and terminal PGD, TX, or PGI synthases.

cPGES

inflammation


Input: Our findings suggest that an impaired DDR and DNA repair may contribute to the pathogenesis of neurodegenerative diseases linked to FUS mutations.

DDR

neurodegenerative diseases


Input: However, the effect of hypoxia-induced ADM expression in bladder cancer remains unclear.

ADM

hypoxia


Input: The TNFA * 2 allele is associated with a higher risk for the development of atopy (risk ratio = 9. 44; EF = 0. 65; chi2 = 30. 06 p < 0. 0005).

TNFA

atopy


Input: Consequently, it is not unexpected that EMT has profound impacts on the neoplastic progression, patient survival, as well as the resistance of cancers to therapeutics (taxol, vincristine, oxaliplatin, EGF-R targeted therapy and radiotherapy), independent of the " classical " resistance mechanisms linked to genotoxic drugs.

EMT

neoplastic progression


Input: Affected sibling pair families (n = 120), nuclear families (n = 645) and cohorts of sporadic cases (n = 208) and controls (n = 1381) were genotyped for androgen receptor gene exon 1 CAG repeat polymorphism.

androgen receptor gene

sporadic


Input: Two linked silent dimorphisms, 807 C--> T (Phe224) and 873 G--> A (Thr246) within the glycoprotein Ia (GPIa) gene have been correlated with low and high platelet receptor density, respectively, and associated with vascular disease.

glycoprotein Ia

vascular disease


Input: Translocations were mutually exclusive and were detected in 26% of cases (17% API2-MALT1, 5% IGH-MALT1, 3% IGH-unknown translocation partner, and 1% IGH-BCL10).

translocation


Input: ACSF3 mutant alleles occur with a minor allele frequency of 0. 0058 in & #8764; 1, 000 control individuals, predicting a CMAMMA population incidence of & #8764; 1: 30, 000.

CMAMMA

CMAMMA


Input: A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.

PLP

Pelizaeus-Merzbacher disease

PLP

Pelizaeus-Merzbacher disease


Input: We conclude that administration of PHC at the time of a systemic insult can protect the lung from the damaging effects of sepsis.

PHC

sepsis


Input: EC exhibited higher expression levels of markers of oxidative stress (lipid peroxydation level and caveolin-1 mRNA), inflammation (angiopoietin-like 2 mRNA), hypoxia (vascular endothelial growth factor (VEGF)-A mRNA), and cell damage (p53 mRNA).

angiopoietin-like 2

inflammation


Input: Mutations in the gene encoding fused-in-sarcoma (FUS) have been identified in a subset of patients with sporadic and familial amyotrophic lateral sclerosis (ALS).

FUS

sporadic


Input: Mothers who consumed caffeine, oxidized CYP1A2 * 1F quickly, and acetylized NAT2 slowly had a nonsignificantly elevated estimated risk for an NTD-affected pregnancy (OR, 3. 10; 95% CI, 0. 86-11. 21).

NTD

NTD


Input: ELOVL5 mutations cause spinocerebellar ataxia 38.

spinocerebellar ataxia 38

spinocerebellar ataxia 38


Input: Although the granulocyte nadirs were significantly lower at each 5-FU dose level with the concurrent GM-CSF schedule (eg, 490 mg/m2/d: median, 879/microL v3, 286/microL; two-tailed P [P2] & lt;. 001), dose-limiting granulocytopenia complicated & lt; or = 16% of cycles with 5-FU & lt; or = 560 mg/m2/d (99 cycles); & gt; or = grade 3 mucositis occurred in & lt; or = 20% of cycles.

GM-CSF

mucositis

GM-CSF

mucositis


Input: These results indicate that TGF-beta/Smad signaling may be involved in the remodeling of the infarct scar after the completion of wound healing per se, via ongoing stimulation of matrix deposition.

TGF-beta

infarct


Input: Expression of HIF1alpha, VEGF, and another hypoxia-responsive gene, glucose transporter-1, was assessed in the irradiated rat spinal cord using immunohistochemistry and in situ hybridization.

VEGF

hypoxia


Input: We have analysed 10 single nucleotide polymorphisms in DRD2, DRD4 and DAT1/SLC6A3 genes in relation to lung cancer risk in a case-control study of smoking subjects.

smoking


Input: Overall, 82. 9% of children with Gram-negative bacterial infections were accompanied by marked increases of IL-6 and IL-10 levels [> 10 times (means ± SD)], whereas only a mild increase of IL-6 levels occurred in Gram-positive bacteria-infected children [> 2 times (means ± SD)] and only a mild increase of IFN-γ levels occurred in fungal culture-positive children [> 2 times (means ± SD)].

mild


Input: For some caspases (CASP1, CASP6 and CASP7) these correlations could be related to brain aging.

aging


Input: Traditionally, it is believed that PHM carries a better prognosis and rarely develops metastasis.

PHM

metastasis


Input: Forty consecutive patients with Brugada-pattern electrocardiogram (ECG) underwent comprehensive genetic analysis of BrS-causing genes including SCN5A, SCN1B, SCN3B, CACNA1C, CACNB2, KCNE3 and KCNE5.

BrS

BrS


Input: Thus, all of the abnormalities represent neutral polymorphisms, and not pathological mutations of the FSH receptor gene.

FSH receptor

abnormalities


Input: In the present study, we aimed to evaluate the expression of CD11b and CD45 adhesion molecules in peripheral blood granulocytes, monocytes and lymphocytes from the patients with coronary artery ectasia as possible indicators of inflammation.

adhesion


Input: Of the 26 patients with autoimmune hepatitis, anti-HCV were detected in 23 patients (88%; CI, 70% to 98%) by ELISA-I, in 12 (46%) by both RIA-I and Sp42 ELISA, in 20 (77%) by ELISA-II, and in 9 (35%) by RIBA-II.

RIBA

autoimmune hepatitis


Input: By using a refined microarray screening approach we present three genes with cancer-specific hypermethylation in colorectal tumors, ADAMTS1, CRABP1, and NR3C1.

colorectal tumors


Input: We genotyped 656 patients with esophageal squamous cell carcinoma (ESCC) and 656 controls for the polymorphism to examine the hypothesis that the STK15 variation may affect individual susceptibility to the occurrence and aggression of ESCC.

aggression


Input: More than 95% of unrelated patients have ferrochelatase (FECH) deficiency (MIM 177000) while about 2% have X-linked dominant protoporphyria (XLDPP) (MIM 300752) caused by gain-of-function mutations in the ALAS2 gene.

MIM

protoporphyria


Input: In 219 nonobese, normotensive, normouricemic (serum UA < 6. 5 mg/dL at entry) men, serum UA, plasma norepinephrine (NE), the homeostasis model assessment of insulin resistance (HOMA-IR), body mass index, total body fat mass, the alpha2A (Lys418Asn)-, beta2 (Arg16Gly, Gln27Glu)-, and beta3 (Trp64Arg)-adrenoceptor polymorphisms were measured annually over 5 years.

body mass index


Input: The proteinase-activated receptor PAR (2) has been demonstrated to modulate tumor growth, invasion and metastasis in various tissues.

PAR

metastasis


Input: The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III.

WS-III

WS-III


Input: MMP-9 agonist and anti-miR‑15b reduced the curative effects of mangiferin in the U87 glioma cells.

glioma


Input: In ten independent cases of Denys-Drash syndrome, point mutations in the zinc finger domains of one WT1 gene copy were found.

Denys-Drash syndrome

Denys-Drash syndrome


Input: We evaluated miR-126 expression, the subsequent HIF-1α and VEGF modulation, Ang-2 and PDGF signalling pathways in human retinal pericytes (HRP) after exposure to MSC-derived EV obtained in diabetic-like conditions (high glucose and/or hypoxia).

VEGF

hypoxia


Input: The t (1; 19) chromosomal translocation in acute lymphoblastic pre-B cell leukemias involves the gene E2A for helix-loop-helix (HLH) proteins E12 and E47, ubiquitous transcriptional proteins implicated in the regulation of various lymphoid and nonlymphoid genes.

chromosomal translocation


Input: In this study, we found that DJ-1 was overexpressed in acute leukemia (AL) patient samples and leukemia cell lines, which gave the first clue that DJ-1 overexpression might be involved in leukemogenesis and/or disease progression of AL.

leukemogenesis


Input: PSMA-VRP is a propagation defective, viral replicon vector system encoding PSMA under phase I evaluation for patients with castration resistant metastatic prostate cancer (CRPC).

VRP

metastatic prostate cancer


Input: We hypothesised that functional polymorphisms in CCR5 and CCL5 influence perivascular leukocyte infiltration, inflammation, axonal loss, and remyelination, and disease course.

axonal loss


Input: We found two pathogenic LGI1 mutations with uncommonly low penetrance: the R136W mutation, previously detected in a sporadic case with telephone-induced partial seizures, gave rise to the epileptic phenotype in three of nine mutation carriers in one family; the novel C179R mutation caused epilepsy in an isolated patient from a family where the mutation segregated.

sporadic


Input: This study investigated the expressions and regulation of GRAIL in CD and murine colitis models.

GRAIL

colitis


Input: Putative ATP1A1-NKCC2 gene interaction was tested by comparing hypertensive patients (blood pressure [BP] > 165/95 mm Hg) with normotensive controls age > 60 years with BP < 140/85 mm Hg.

blood pressure


Input: These data suggest that intrarenal granulomas in urate nephropathy may be the consequence of a crystal induced DTH reaction mediated by MIF.

MIF

granulomas


Input: Prolactin levels fell from more than 2, 000 ng/ml to 340 ng/ml following infarction of the pituitary tumor.

Prolactin

infarction

Prolactin

infarction


Input: The prevalence of PVR and retinal detachment was determined by indirect ophthalmoscopy on days 3, 7, 14, and 21 after the injection of rAd-p21 into the vitreous.

retinal detachment


Input: In asymptomatic transgenic mSOD1 mice, expression of Bcl-2, Bcl-XL, Bad, and Bax does not differ from that in nontransgenic mice.

asymptomatic


Input: We hypothesized that DNA variants affecting neurodevelopment such as rs4307059 (CDH10/CDH9), rs930752 (NRXN1), rs6265 (BDNF) or rs10868235 (NTRK2) may predispose to completed suicide.

suicide


Input: Studies in mammalian cells suggest that dysregulated SAC function, centrosome cycle, and cytokinesis can all contribute significantly to aneuploidy.

SAC

aneuploidy


Input: To elucidate the role of p53/p16 (INK4a)/RB1 pathways in the tumorigenesis of primary central nervous system lymphomas (PCNSLs), we have analyzed p14 (ARF), p16 (INK4a), RB1, p21 (Waf1), and p27 (Kip1) status in a series of their 18 sporadic cases of diffuse large B-cell lymphoma, using methylation-specific PCR, differential PCR, and immunohistochemistry.

tumorigenesis


Input: Seventeen genes (ABL, APC, APAF1, BRCA1, CSPG2, DAPK1, hMLH1, LKB1, PTEN, p14ARF, p15INK4b, p27KIP1, p57KIP2, RASSF1C, RB1, SURVIVIN, and VHL) displayed a uniformly unmethylated pattern in all the astrocytoma and non-astrocytoma tissues examined.

astrocytoma


Input: Univariate analysis revealed that age, gender, weight, atrial fibrillation, deep vein thrombosis/pulmonary embolism and variant genotypes of CYP2C9 and VKORC1 loci were significantly associated with warfarin dose in the studied patient population.

pulmonary embolism


Input: Recently it has been reported that hypoxia induces VEGF mRNA expression in various cells.

VEGF

hypoxia


Input: Thus, our data provide evidence that in sarcoidosis, at the site of granuloma formation, an accumulation of Th1 cells as well as of intermediate (between Th1 and Th0) cell types occurs, whereas in the alveolar lumen, high numbers of Th1 and Th2 cells with a simultaneous decrease of Th0 cells can be observed.

sarcoidosis


Input: Multivariable logistic regression analysis showed that the NsiI polymorphism of the exon 8 of the INSR was an independent predictor for MS in Han people adjusted for total cholesterol, sex, physical activity, educational level, family income, alcohol intake and smoking (OR = 2. 55, 95% CI: 1. 31-4. 94, p = 0. 006).

INSR

smoking


Input: Specifically, mice of any genotype suckled on ZnT4-deficient mice fail to absorb intestinal zinc and ZnT4-deficient mice also develop dermatitis, alopecia and stunted growth.

alopecia


Input: The low MVD, increased HIF-1alpha protein levels, dissociation of hypoxia, and TP53 protein induction in the metastatic tumor cells (AN3CA) support a role for hypoxia in the development of recurrent endometrial carcinoma.

MVD

recurrent endometrial carcinoma


Input: This finding provides novel insight into the potential of MCP-1 in the development of novel therapeutic strategies for silicosis.

silicosis

silicosis


Input: Since PAX5 is essential for B-cell differentiation, this translocation may account for the blockage of leukemic cells at the pre-B-cell stage.

pre-B

pre-B


Input: We correlated the TLE1 expression with the t (X; 18) translocation and other established biomarkers (EMA, PanCK, CK7, CD34 and BCL2).

translocation


Input: Lynch syndrome (LS), the most common form of familial CRC predisposition that causes tumor onset at a young age, is characterized by the presence of microsatellite instability (MSI) in tumors due to germline inactivation of mismatch repair (MMR) system.

MMR

microsatellite instability


Input: Recently, molecular genetic studies have shown that this translocation results in the fusion of the API2 gene on chromosome 11 and a novel gene termed MALT1 on chromosome 18.

translocation


Input: To date, more than 40 different GFAP mutations have been reported in AD.

GFAP

AD

GFAP

AD


Input: The AGE-induced increases in VEGF expression were dose-and time-dependent, inhibited by antioxidants, and additive with hypoxia.

VEGF

hypoxia


Input: Retinoic acid (RA) is a key regulator of embryonic development and linked to several birth defects including cleft lip and palate (CLP).

CLP

birth defects


Input: Several members of the Wnt-signaling pathway and gene sets related to hypoxia, epithelial-to-mesenchymal transition (EMT) and transforming growth factor-β (TGFβ) pathway activation were induced in CAFs.

TGFβ

hypoxia


Input: In addition, PPARγ partially rescued hypoxia-induced inhibition of labyrinthine differentiation in wild-type TS cells but was not required for hypoxia-induced inhibition of TGC differentiation.

PPARγ

hypoxia


Input: Also, when we compare the FEP patients after risperidone treatment with controls, this difference remains significant, and no significant differences were observed in GCH1 mRNA levels when comparing patients before and after risperidone treatment.

FEP

FEP


Input: However, PU. 1 translocation into the nucleus was significantly higher in CF monocytes than in controls, suggesting a role for this transcription factor in the control of TREM-1 expression.

translocation


Input: These results suggest that the oncogenic effect of the t (3; 9) translocation may be due to the TFG-TEC chimeric protein and that fusion of the TFG (NTD) to the TEC protein produces a gain-of-function chimeric product.

TFG

translocation


Input: We report here the identification of a missense mutation (T44A) in the human CKIdelta gene, which results in FASPS.

CKIdelta

FASPS

CKIdelta

FASPS


Input: Therefore, we have focused our investigation on matrix metalloproteinases (MMPs), which are degradative enzymes involved in ECM degradation and ECM remodelling, thus likely contributing to the altered bone mineral density and bone metabolism values seen in five MADA patients.

ECM

bone mineral density


Input: Yet, the mechanisms of regulation between LCN2 with MMP9 in tumorigenesis is unclear.

tumorigenesis


Input: Herein, we investigate whether CB1 participates in glomerular proteinuria in CB1 transgenic mice and treatment with CB1 agonist WIN55212-2 rat, neither of which are diabetic models.

proteinuria


Input: Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.

Noonan syndrome

Noonan syndrome


Input: To determine if the prevalence of 2 prothrombotic genetic factors, factor V Leiden and prothrombin gene mutation, is increased in patients with antiphospholipid (aPL) antibodies with a history of venous/arterial thrombosis compared to patients with aPL antibodies with no history of thrombosis.

factor V Leiden

arterial thrombosis


Input: In infants with Down syndrome, concentrations of IL-8 levels were higher than in controls, whether or not corrected for total protein; NT-3 and CGRP were lower and VIP higher.

VIP

Down syndrome

VIP

Down syndrome


Input: The aim of the study was to investigate the role of MIF in the pulmonary vascular remodeling of hypoxia-induced PH.

MIF

vascular remodeling


Input: Also, an androgen receptor mutation (testicular feminization mutation [tfm]) was introduced in these rats by crossbreeding male TGR (mREN2) 27 rats with tfm rats.

TGR

testicular feminization


Input: Taken together, our findings suggest that CHD1 deletion may underlie cell invasiveness in a subset of prostate cancers, and indicate a possible novel role of altered chromatin remodeling in prostate tumorigenesis.

tumorigenesis


Input: Antisense oligonucleotides directed at the bcl-xl gene product engender apoptosis in mesothelioma cell lines.

bcl-xl

mesothelioma


Input: Our results show that in DEN-treated rats, although the progression of liver fibrosis is associated with hepatocellular hypoxia and angiogenesis, VEGF and Flt-1 expressions in the liver are increased and correlated with the density of microvessels.

VEGF

hypoxia


Input: Thus, increased VPF/VEGF mRNA stability induced by hypoxia is mediated, at least in part, by specific interactions between a defined mRNA stability sequence in the 3' untranslated region and distinct mRNA-binding proteins in human tumor cells.

VEGF

hypoxia


Input: The present study assessed the utility of ABCB1 and NAD (P) H quinone oxidoreductase 1 (NQO1) polymorphism as a predictor of amrubicin-induced neutropenia.

quinone oxidoreductase

neutropenia


Input: Both the clinical presentations of these two families and the identification of COMP-gene mutations provide evidence of phenotypic overlap between PSACH and MED.

COMP

PSACH

COMP

PSACH


Input: We aimed to evaluate a diagnostic strategy for LS based on routine analysis of microsatellite instability (MSI) and immunohistochemical (IHC) staining for mismatch repair (MMR) proteins in tumour tissue of all newly diagnosed EC patients ≤ 70 years.

MMR

microsatellite instability


Input: The RON receptor tyrosine kinase and its ligand macrophage stimulating protein (MSP) play a role in epithelial tumorigenesis.

MSP

tumorigenesis


Input: We compared DPD activity and DPD mRNA expression in resected tumors between two groups of patients, i. e., a group of 14 patients with advanced gastric cancer who received preoperative chemotherapy (neoadjuvant chemotherapy; NAC) and surgery and a group of 24 patients with advanced gastric cancer who underwent surgery without preoperative chemotherapy.

NAC

gastric cancer


Input: Subset 1A, characterized by ATF3 and DUSP2, and subset 1B, characterized by EGR3 and MXD1, were shared between BD and SZ patients (up-regulated in 67% and 51%, and 34% and 41%, respectively).

BD

BD


Input: We examined how ionizing radiation (IR) delivered under either severe hypoxia (< 0. 1% O2) or normoxia affects the expression of hypoxia inducible factor 1alpha (HIF-1alpha) and the angiogenic factors vascular endothelial growth factor (VEGF) and angiopoietins 1, 2 and 4 in U87 human glioblastoma cells.

VEGF

hypoxia


Input: In IgA nephritis, the population of glomerular cells positive for c-Fos and c-Myc and the grade of c-Raf immunoreactivity were significantly correlated with the proportion of proliferating cell nuclear antigen (PCNA)-positive glomerular cells, with histological grading of mesangial hypercellularity and matrix increase, and with the magnitude of proteinuria.

PCNA

nephritis


Input: The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.

breast tumors

breast tumors


Input: Treatment successes have been particularly impressive for melanoma with small molecule inhibitors directed against the mutated BRAF oncogene and in basal cell carcinoma with inhibitors directed against the hedgehog signaling pathway.

BRAF

basal cell carcinoma


Input: Gout was diagnosed by the 1977 ARA gout classification criteria.

ARA

gout


Input: An increased frequency of the angiotensin converting enzyme (ACE) D variant has recently been reported in patients with atheromatous renal artery disease (RAD), whereas controversy exists on the risk of coronary artery disease (CAD) associated with this polymorphism.

RAD

renal artery disease


Input: Schwartz-Jampel syndrome (SJS, MIM 255800), also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia, skeletal abnormalities and facial dysmorphism.

MIM

facial dysmorphism


Input: Spindle assembly checkpoint (SAC) is a critical cellular mechanism that prevents chromosome missegregation and therefore aneuploidy by blocking premature separation of sister chromatids.

SAC

aneuploidy


Input: Rats were fed with a control or HFD for 4 or 8 wk, and were then infected with a control or an MFN2 expressing adenovirus once a week for 3 wk starting from the 9 (th) wk.

adenovirus


Input: In female GARP patients with severe familial OA, d3-GHR was associated with OA (adjusted OR 1. 36 (95% CI 1. 01 to 1. 83), p = 0. 043), independently of age and body mass index.

GARP

body mass index


Input: Recently, a new syndrome characterized by multiple PGLs and somatostatinomas associated with congenital polycythemia due to somatic mutations in HIF2A has been reported.

PGLs

polycythemia


Input: We analyzed 28 variants of ATP7B from patients with Wilson disease that affected different functional domains; the gene products were expressed using the baculovirus expression system in Sf9 cells.

Wilson disease

Wilson disease


Input: The incidence of p21 expression by hepatocytes was significantly higher in macronodular cirrhotic patients than in those with micronodular cirrhosis (p less than 0. 05) and tended to be higher in those positive for hepatic hepatitis B virus markers than in those that were negative (p less than 0. 1).

micronodular cirrhosis


Input: In cultured rat intestinal epithelial and human colon cancer cell lines, suppression of CDX2 by antisense RNA caused marked increases in ABI and chromosomal aberrations.

chromosomal aberrations


Input: By sequencing GJA1, GJA4, and GJC2 in a group of families with dominantly inherited lymphedema, we identified six probands with unique missense mutations in GJC2 (encoding connexin [Cx] 47).

lymphedema


Input: PROP1 gene mutations cause multiple pituitary hormone deficiency (MPHD).

PROP1 gene

pituitary hormone deficiency


Input: In contrast, all three (100%) of the testicular lymphoma tissues demonstrated hypermethylation of E-cadherin, RASSF1A, and RARB, but not CDKN2B, CDKN2A, BRCA1, RB1, VHL, and GSTP1.

testicular lymphoma


Input: These results demonstrate that duplications of the PLP gene are the major cause of PMD.

PLP

PMD

PLP

PMD


Input: In the triple-negative breast cancer cell line MDA-MB-231, the mild starvation also reduced rRNA transcription in a KDM2A-dependent manner.

mild


Input: To assess the direct correlation of HIF-1α and NF-κB, and the actual mechanism of MDM2 involved in the control over VEGF transcription, we exposed the LNCaP and LNCaP-MST cells (MDM2 transfected) to hypoxia.

VEGF

hypoxia


Input: The depletion of FGL2 expression inhibited tumor progression and epithelial-to-mesenchymal transition (EMT) in vitro and in vivo, while ectopic overexpression of FGL2 enhanced cell invasion and induced EMT in vitro.

EMT

tumor progression


Input: The 3 recognized subtypes include MEN 2A, characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (pheo), and hyperparathyroidism (HPT); MEN 2B, by MTC, pheo, and characteristic stigmata; and familial MTC (FMTC), by the presence of MTC only.

HPT

pheochromocytoma


Input: The proto-oncogene BCL-2 was discovered with the cloning of the t (14; 18) chromosomal translocation responsible for human follicular lymphoma.

chromosomal translocation


Input: SLC9A3 missense, splicing and truncation mutations, including an instance of uniparental disomy, and whole-gene deletion were identified in nine patients from eight families with CSD.

CSD

CSD


Input: A homozygous nonsense CEP250 mutation, in combination with a heterozygous C2orf71 nonsense mutation, causes an atypical form of USH, characterised by early-onset SNHL and a relatively mild RP.

mild


Input: Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.

Syndrome of coronal craniosynostosis

Syndrome of coronal craniosynostosis


Input: The aim of the present study was to analyse the antiproliferative effects and mechanisms of action of protein kinase inhibitors (PKIs) in human glioblastoma multiforme (GBM) cells with different epidermal growth factor receptor (EGFR) and phosphatase and tensin homologue (PTEN) status.

tensin

glioblastoma multiforme


Input: Mammalian sterile-20-like kinase 4 (MST4) has been implicated in cell proliferation and differentiation.

sterile


Input: We have observed that an early increase in the CD4 +/CD8 + ratio of metastatic melanoma patients during chemoimmunotherapy is the most favourable independent prognostic factor.

metastatic melanoma


Input: Gene probes for insulin receptor (INSR) and c-ets-1 were hybridized to metaphase cells from three leukemic patients with the t (11; 19) (q23; p13) translocation.

INSR

translocation


Input: However, the receptor was also identified in CD34-marked endothelia of neurofibromas but not in endothelia of MPNST.

neurofibromas


Input: Our study identifies mutations in ADCY5, the gene previously linked to familial dyskinesia with facial myokymia, as a cause of familial and sporadic BHC.

BHC

BHC


Input: In an animal model, B16 cells treated with both p19Arf and nutlin-3 yielded increased necrosis and decreased BrdU marking.

necrosis


Input: Two siblings with the abnormal hemoglobin also demonstrated increased pulmonary artery pressures on exercise echocardiography suggestive of early PPH.

PPH

abnormal hemoglobin


Input: Mutated GLT8D1 exhibits in & #160; vitro cytotoxicity and induces motor deficits in zebrafish consistent with ALS.

ALS

ALS


Input: Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.

mannosyltransferase I

Congenital disorder of glycosylation type Ik

mannosyltransferase I

Congenital disorder of glycosylation type Ik


Input: VEGF (165) enhanced human myoblast survival in vitro under hypoxic conditions.

VEGF

hypoxic


Input: The decidual T cells in the miscarriage appeared higher in responsiveness and IL-2 and IFN-gamma production in comparison with the decidual T cells in the early pregnancy.

IFN

miscarriage


Input: For example, early efforts to study, in families, the co-occurrence of the P300 marker and alcoholism have yielded results indicating that the P300 abnormality precedes significant exposure to alcohol and that relatives of alcoholics are more likely to have this trait.

alcoholism

alcoholism


Input: This stimulation of MDM2 sumoylation is accomplished through a direct interaction of SKI with SUMO-conjugating enzyme E2, Ubc9, resulting in enhanced thioester bond formation and mono-sumoylation of Ubc9.

mono


Input: AtT20 cells and a human pituitary null cell adenoma cell line (HP75), which expressed abundant p27, had a methylation pattern similar to the NP.

pituitary null cell adenoma


Input: In contrast to the broad expression of both CMTM3 and CMTM4 in normal human adult tissues, only CMTM3 is silenced or down-regulated in common carcinoma (gastric, breast, nasopharyngeal, esophageal, and colon) cell lines and primary tumors.

carcinoma


Input: The translocation t (11; 18) (q21; q21) is the most frequent chromosomal aberration associated with MALT lymphoma and results in constitutive NF-kappaB activity via the expression of an API2-MALT1 fusion protein.

translocation


Input: As an extension of our previous observation, relating a serotonin transporter gene-linked promoter region (5-HTTLPR) diallelic functional polymorphism (short [S] and long [L] alleles) to the risk of post-stroke major depression (PSD), this study investigated the role of 2 other functional polymorphisms of the serotonin transporter gene (5-HTT) in the same sample of subjects with PSD.

PSD

stroke


Input: In all tumors, an exclusive cytoplasmic localization of SEMA3F correlated with high levels of vascular endothelial growth factor and was related to the grade and aggressiveness.

aggressiveness


Input: CONCLUSIONS: Dicer, Drosha, and Exportin 5 are promising biomarkers and therapeutic targets for urothelial carcinoma of the bladder.

Exportin 5

carcinoma of the bladder


Input: Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability.

microsatellite instability


Input: Two cases originally classified as embryonal carcinoma were OCT4 and CD30 negative and showed glypican 3 positivity.

glypican 3

embryonal carcinoma


Input: Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick' s disease.

frontotemporal dementia

frontotemporal dementia


Input: Semiquantitative reverse-transcription polymerase chain reaction was used to analyze intralesional cytokine gene expression in 28 patients with post-kala azar dermal leishmaniasis (PKDL) and 14 patients with kala azar (KA).

PKDL

leishmaniasis


Input: A review of the literature and the assay of FVIII antigen in 5 hemophilia A patients with previously identified missense mutations from this laboratory yielded a total of 20 other unique CRM-reduced and CRM-positive mutations.

FVIII

hemophilia A

FVIII

hemophilia A


Input: One hundred twenty women, including 20 cases of normal (control), 14 cases of cervical intraepithelial neoplasia grade I (CIN I), 35 cases of CIN II, 36 cases of CIN III, and 15 cases of squamous cervical cancer diagnosed by histopathologic evaluation, were subjected to cytopathologic examination, TERC detection by fluorescence in situ hybridization (FISH), and HPV DNA testing by Hybrid Capture II.

FISH

squamous cervical cancer


Input: The aim of the present study was to investigate the relation between TG-related parameters considered in different clinical guidelines used in industrialized countries for the management of lipid disorders (namely fasting plasma TG, high density-lipoprotein cholesterol (HDL-C), non-HDL-C concentrations and total-C/HDL-C ratio) and the presence of LPL-null (P207L), LPL-defective (D9N), PPARalpha-L162V, apolipoprotein (apo) E and PPARgamma-P12A gene mutations, in a sample of 292 hypertriglyceridemic subjects treated with fenofibrate for 3 months.

lipid disorders


Input: To determine the functions of p54 (nrb) in breast cancer, we performed a biochemical screen and identified SREBP-1a, a master activator for genes involved in lipid biosynthesis, as a novel interacting protein of p54 (nrb).

breast cancer


Input: We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene in a patient with Fabry' s disease.

alpha-galactosidase A

Fabry' s disease

alpha-galactosidase A

Fabry' s disease


Input: Aberrant methylation of Reprimo correlates with genetic instability and predicts poor prognosis in pancreatic ductal adenocarcinoma.

Reprimo

pancreatic ductal adenocarcinoma


Input: Constitutive Angptl2 activation in vivo induced inflammation of the vasculature characterized by abundant attachment of leukocytes to the vessel walls and increased permeability.

inflammation


Input: In the present study, we examined a possible association of the CCK STR with mood disorders.

STR

mood disorders


Input: It has been published that antibeta2-glycoprotein I (beta2-GPI) antibodies, with lupus anticoagulant activity (LAC), highly correlate with thrombosis.

GPI

lupus anticoagulant


Input: In vitro models, including invasion, cellular migration (Electrical Cell substrate Impedance Sensing based method), cell growth and matrix adhesion assays were employed in order to assess the biological influence of EPLIN-α expression on KYSE150 oesophageal cancer cells.

EPLIN

adhesion


Input: Virus-mediated shRNA knockdown of prodynorphin in the rat nucleus accumbens attenuates depression-like behavior and cocaine locomotor sensitization.

prodynorphin

depression

prodynorphin

depression


Input: Several genes, including SOD1, TDP-43, FUS, Ubiquilin 2, C9orf72 and Profilin 1, have been linked with the sporadic and familiar forms of ALS.

FUS

sporadic


Input: Expression of MPLW515L in 32D, UT7, or Ba/F3 cells conferred cytokine-independent growth and thrombopoietin hypersensitivity, and resulted in constitutive phosphorylation of JAK2, STAT3, STAT5, AKT, and ERK.

ERK

hypersensitivity


Input: In hypophosphatasia, extracellular accumulation of TNSALP natural substrates includes inorganic pyrophosphate, an inhibitor of mineralization, which explains the dento-osseous and arthritic complications featuring tooth loss, rickets or osteomalacia, and calcific arthopathies.

TNSALP

tooth loss


Input: There was no difference in MPI values between pterygium epithelium and superior conjunctival epithelium (3. 55; P = 0. 12).

MPI

pterygium


Input: The von Hippel-Lindau tumor suppressor protein (pVHL) negatively regulates hypoxia-inducible mRNAs such as the mRNA encoding vascular endothelial growth factor (VEGF).

VEGF

hypoxia


Input: Clinical and laboratory features were similar in the obese children with and without an MC4R mutation.

obese

obese


Input: The expression of ANXA2 in the U87 glioma cell line was interrupted using short interfering RNA duplexes, and the role of ANXA2 in the migration and invasiveness of glioma cells was assessed.

glioma


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

depression

depression


Input: The 39-year-old white male proband, with amaurosis fugax and transient ischemic attacks (TIA), was found to be a compound heterozygote for FVL and PTG mutations.

PTG

amaurosis fugax


Input: Rituximab, given weekly after tumors had reached 250 mm2, led to complete disappearance of the lymphoma within 2-3 wk.

lymphoma


Input: The plasmid vectors containing ODD significantly improved the expression level of VEGF protein in hypoxic conditions.

VEGF

hypoxic


Input: A nonsynonymous single nucleotide polymorphism rs13266634 in the SLC30A8 gene, encoding the secretory granule zinc transporter ZnT8, is associated with type 2 diabetes.

type 2 diabetes

type 2 diabetes


Input: NPM expression was found significantly upregulated in CRC compared to adjacent colorectal tissue, villous adenoma, tubular adenoma and normal colorectal mucosa (p < 0. 05 for all).

NPM

tubular adenoma


Input: In contrast, the MAPK/Erk1/2 signaling triggered by adhesion increased during at least 4 h and was independent of cholesterol disturbing.

adhesion


Input: Regulation of macrophage production of vascular endothelial growth factor (VEGF) by hypoxia and transforming growth factor beta-1.

VEGF

hypoxia


Input: The surface antigen expression of oMSCs was consistent with that of MSCs; they lacked the hematopoietic and common leukocyte markers (CD34, CD45) while expressing those related to adhesion (CD29, CD166, CD44) and stem cells (CD90, CD105, CD73).

adhesion


Input: In a Cox regression model, the adjusted hazard ratios for the risk of progression with epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) were 0. 24 (95% CI, 0. 14-0. 42; p < 0. 001) for the EGFR mutation and 1. 27 (95% CI, 0. 58-2. 79; p = 0. 537) for the KRAS mutation.

EGFR

regression


Input: Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.

SUOX

sulfite oxidase deficiency

SUOX

sulfite oxidase deficiency


Input: To investigate whether a common polymorphism in the cholesteryl ester transfer protein (CETP) gene modifies the relationship of alcohol intake with high-density lipoprotein cholesterol (HDL-C) and risk of coronary heart disease (CHD).

CETP

alcohol intake


Input: The cyclin-dependent kinase inhibitor p27 (Kip1) (p27) plays a pivotal role in controlling cell proliferation during development and tumorigenesis.

tumorigenesis


Input: Crouzon syndrome (MIM 123500) is a common autosomal dominant form of craniosynostosis with shallow orbits, ocular proptosis, and maxillary hypoplasia.

MIM

ocular proptosis


Input: Surgical procedure (PH, Portal vein stenosis (PVS), bile duct ligation (BDL), spinal cord lesion (SCL)) and treatments (capsaicin, bile acids (BA), oleanolic acid (OA)) were performed on rats and/or wild type or TGR5 (GPBAR1) knock-out mice.

stenosis


Input: A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

APC

Cenani-Lenz syndrome

APC

Cenani-Lenz syndrome


Input: Some hyperoxia-exposed mice had one eye injected intravitreally with 150 ng/1. 5 microL of soluble EphrinB2/Fc or EphB4/Fc chimeras during transition from high O (2) to room air (P12) and injected again on P14.

hyperoxia


Input: In this study we show that expression of VEGF is regulated by hypoxia in human endometrium.

VEGF

hypoxia


Input: The kinetics of Trim62, Atrogin1 and MuRF1 expression were determined in the gastrocnemius/plantaris and tibialis anterior muscles from mouse models of inflammation-, denervation-and starvation-induced muscle atrophy to differentiate between these contributors to ICUAW.

muscle atrophy


Input: To perform molecular prenatal diagnosis in a family with partial androgen insensitivity syndrome, we studied the Hind III polymorphism of the androgen receptor gene on the trophoblastic DNA.

androgen receptor

partial androgen insensitivity syndrome

androgen receptor

partial androgen insensitivity syndrome


Input: Multiple Endocrine Neoplasia (MEN) 2A is an inherited disease characterized by the development of medullary thyroid carcinoma (MTC), pheochromocytoma (PHCH) and hyperparathyroidism (HPT).

HPT

medullary thyroid carcinoma


Input: We performed a case-control study to analyze possible associations of HLA-A, HLA-B, HLA-Cw, HLA-DRB1 and HLA-DQB1 alleles with clinical disease severity caused by dengue virus infection.

virus infection


Input: The authors investigated the impact of the genetic polymorphisms cytochrome P450 (CYP) family 2, subfamily D, polypeptide 6, allele 10 (CYP2D6 10) and CYP family 2, subfamily C, polypeptide 19, allele 2, 3 (CYP2C19 2, 3) on disease recurrence in patients with breast cancer who received adjuvant tamoxifen and evaluated the impact of those polymorphisms on endometrial thickness, bone mineral density (BMD), and serum total cholesterol levels.

bone mineral density


Input: One haplotype variant in the IGF1 gene was found to be associated with mammographic density.

IGF1 gene

mammographic density


Input: The Rae1-Nup98 complex prevents aneuploidy by inhibiting securin degradation.

securin

aneuploidy


Input: Both facilitated allergen sensitization and secondary degradation of filaggrin following T-helper cell 2 inflammation might be key elements to understanding this relationship.

filaggrin

secondary


Input: This review focuses on the molecular characterization of ABCA4 and ELOVL4 and their role in photoreceptor cell biology and the pathogenesis of Stargardt disease.

Stargardt disease

Stargardt disease


Input: OBJECTIVES: The purpose of this study was to investigate immunohistochemical differences in testicular tissue due to STZ induced diabetes regarding pluripotency via transcription factors like Klf4, Sox2, c-Myc and Oct4, and to determine weight changes in both the subjects and the testes during the experiment.

weight changes


Input: Airway epithelial cells isolated from PCD-affected individuals had markedly reduced HEATR2 levels, absent dynein arms, and loss of ciliary beating.

PCD

PCD


Input: We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer' s or dementia.

dementia

dementia


Input: We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense mutation (Ser305Asn) in the tau gene.

tau

frontotemporal dementia

tau

frontotemporal dementia


Input: A fluorescence in situ hybridization (FISH) study was performed in 56 patients with short stature of unknown cause in order to establish the role of deletion of the SHOX gene in this population.

FISH

short stature


Input: We have recently found an increased expression of amyloid precursor protein (APP) in cold thyroid nodules that are difficult to classify as a truly benign thyroid neoplasm or a lesion with the potential for further dedifferentiation.

APP

cold


Input: Previously, autosomal-recessive loss-of-function mutations in ATR have been demonstrated in Seckel syndrome, a developmental disorder.

ATR

developmental disorder


Input: Our findings define the molecular pathology of homozygous VP and suggest that mild PPOX mutations occur in the general population but have very low or no clinical penetrance in heterozygotes.

PPOX

VP

PPOX

VP


Input: Our study indicates that BRCA1 + can cause genome instability with both germline and somatic mutations in non-breast cells.

genome instability


Input: We investigated the expression of basic fibroblast growth factor (b-FGF) and platelet-derived endothelial cell growth factor (PD-ECGF) in squamous cell carcinoma of the esophagus in order to clarify the mechanism of angiogenesis.

endothelial cell growth factor

squamous cell carcinoma of the esophagus


Input: Significant levels of TNF (578 +/-917 pg/ml versus 24 +/-29 pg/ml) (p = 0. 01), GM-CSF (24 +/-41 pg/ml versus less than 8 pg/ml) (p = 0. 02), and IL-6 (225 +/-327 pg/ml versus 7 +/-12 pg/ml) (p = 0. 01), but not IL-1 alpha or IL-4, were detected in the bronchoalveolar lavage fluid (BALF) of patients with symptomatic compared with BALF of patients with asymptomatic asthma.

asymptomatic


Input: We studied 351 randomly selected healthy postmenopausal women, with mean age of 55. 43 +/-2. 75 years and mean body mass index (BMI) of 27. 5 +/-4. 78 kg/m2, to evaluate the frequency of BsmI polymorphism (by restriction fragment length polymorphism-polymerase chain reaction) in the VDR gene and to find out whether there is an association between this polymorphism and BMI, total fat volume and visceral fat (as determined by total body dual-energy X-ray absorptiometry), blood pressure, lipid profile (total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, triglycerides) glucose and fasting insulin in the whole group, as well as subgroups of obese and non-obese women.

VDR gene

blood pressure


Input: Animal models suggest that RERE deficiency might contribute to many of the structural and developmental birth defects and medical problems seen in individuals with 1p36 deletion syndrome, although human evidence supporting this role has been lacking.

RERE

1p36 deletion syndrome

RERE

1p36 deletion syndrome


Input: Results revealed that while most genes investigated showed near equivalent expression levels, both Apolipoprotein E (APOE) and the beta2 subunit of the voltage-gated sodium channel (SCN2beta) were significantly underexpressed in brains of the seizure-prone embryos.

seizure


Input: The genotype (s) of TTV responsible for the liver dysfunction could not be determined.

TTV

liver dysfunction


Input: Mutant alleles on TPMT and the variant c. 94C > A on ITPA gene predict side effects induced by AZA in our population (myelosuppression and arthralgia).

ITPA gene

myelosuppression


Input: Eight protein-coding regions were involved: ras-responsive element binding protein 1, calmodulin 1, mixed lineage leukemia 2 (MLL2), FLJ333655, LOC220272, LOC255345, LOC220220, and LOC168991.

ras-responsive element binding protein 1

mixed lineage leukemia


Input: The expressions of CDK4 and Cyclin D1 increased along with progression of gallbladder mucosa hyperplasia; and showed highest expression in cancer group.

hyperplasia


Input: We determined the expression profile of PTK genes in normal skin and keloid fibroblasts using the homology cloning method with a degenerated primer.

PTK

keloid


Input: B-cell lymphomas with concurrent IGH/BCL2 and MYC gene rearrangements, termed dual-translocation or double-hit lymphomas (DTLs), rarely are identified.

translocation


Input: By contrast, there was no association between having a father with schizophrenia and APA.

APA

schizophrenia


Input: There have been lower Bcl-2 levels and increased Bax/Bcl-2 ratio in the temporal cortex of patients with schizophrenia compared with those in controls.

schizophrenia

schizophrenia


Input: NCM demethylation increased with aging in patients with single tumors, but decreased in those with multiple tumors.

NCM

multiple tumors


Input: Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.

UMP synthase

hereditary orotic aciduria

UMP synthase

hereditary orotic aciduria


Input: PAR-1 and PAR-2 in the cells forming the tumor microenvironment suggest that these receptors mediate the signaling of secreted thrombin and trypsin in the processes of cellular metastasis.

PAR

metastasis


Input: TTV-DNA detection by amplification of a segment of the ORF-1 region, presented a prevalence of 11. 9% in 270 serum samples from blood donors, of 46. 2% in 18 samples from patients with coagulopathies, and of 31. 8% in 15 samples from patients with hemoglobinopathies.

TTV

hemoglobinopathies


Input: Genes encoding endothelin-converting enzyme-1 and endothelin-1 interact to influence blood pressure in women: the EVA study.

EVA

blood pressure


Input: The results show that stimulation of 5-HT 1A receptors exerts anticonvulsant actions in stressed and unstressed mice, while stimulation of 5-HT 2A/2C receptors does not interfere with the effect of stress on picrotoxin-induced convulsions.

5-HT 1A

convulsions

5-HT 1A

convulsions


Input: The plasma elafin concentration in the highest quartile (≥ 12. 69 ng/mL) was inversely associated with asthma (adjusted odds ratio 0. 122 [95% confidence interval, 0. 053-0. 278]) compared with the lowest quartile (< 5. 82 ng/mL) after adjusting for age, sex, smoking status, waist-to-hip ratio, percentage predicted forced expiratory volume in 1 second, cockroaches in the home, incense burning, and family history.

elafin

waist-to-hip ratio


Input: Several growth factors, including EGF, PDGF, and TGF-β1, are involved in pulmonary vascular remodeling during pulmonary hypertension.

EGF

vascular remodeling


Input: PPAR gamma gene mutations have been found in 4 of 55 sporadic colon cancers, and a chimeric PAX8-PPAR gamma 1 gene frequently generates a chromosomal translocation in thyroid follicular carcinomas, implicating PPAR gamma in tumor suppression.

sporadic


Input: In some specimens, CD40L (+) platelets were identified in the intima and in plaque ruptures.

plaque


Input: Additionally, it has a significant effect on tumorigenesis by limiting angiogenesis and invasion of tumours through the ECM.

ECM

tumorigenesis


Input: These results suggest that a PWSI-mediated impairment in antioxidant defense mechanisms, presumably mediated by PGC-1 & #945; downregulation in the NMDAR-deleted PV-positive interneurons, results in oxidative stress, which, in turn, might contribute to exacerbation of schizophrenia-like behavioral phenotypes.

schizophrenia

schizophrenia


Input: This study investigated L1 cell adhesion molecule (L1CAM) expression and its role in tumorigenesis of ATCs.

tumorigenesis


Input: Promotion of inflammation was also involved because lower TSP-1 was able to up-regulate the adhesion molecules intercellular adhesion molecule-1 and vascular cell adhesion molecule-1.

adhesion


Input: Hypoxia-inducible factor 1 (HIF-1) promotes extracellular matrix remodeling under hypoxic conditions by inducing P4HA1, P4HA2, and PLOD2 expression in fibroblasts.

hypoxic


Input: Chondrodysplasia Grebe type (CGT) is an autosomal recessive disorder characterized by severe limb shortening and dysmorphogenesis.

CGT

dysmorphogenesis


Input: Taken together, these results implicate SIRT2 as an important regulator of programmed necrosis and indicate that inhibitors of this deacetylase may constitute a novel approach to protect against necrotic injuries, including ischaemic stroke and myocardial infarction.

necrotic


Input: The frequency of human leukocyte antigen (HLA)-B27 has been found to be increased in rheumatoid arthritis (RA) in Finland and marginally also in some other populations.

rheumatoid arthritis


Input: In this report, we describe a missense mutation in the keratin 17 gene, M88T, in a Korean patient whose phenotype included early onset steatocystoma multiplex and Hutchinson-like tooth deformities along with other typical features of PC-2 such as hypertrophic nails, natal teeth and follicular hyperkeratosis.

keratin 17

keratin 17


Input: We have investigated the possibility that mutations in the gene LHX9, whose murine ortholog causes isolated gonadal agenesis when inactivated, might be responsible for gonadal dysgenesis and agenesis in humans.

gonadal agenesis


Input: Dominant-negative mutations of CEBPA have been found in some patients with acute myeloid leukemia (AML), but not in AML with the t (8; 21) translocation which gives rise to the fusion gene RUNX1-CBF2T1 (also known as AML1-ETO) encoding the AML1-ETO fusion protein.

translocation


Input: The full-length transcript of the gene (LAMA3-B) did not appear to be hypoxia-associated.

hypoxia


Input: We asked whether Pdx1 is a target of anti-islet autoimmunity in type I diabetes (T1D).

autoimmunity


Input: About 15% of sporadic gastrointestinal and endometrial tumors show the microsatellite instability (MSI) phenotype because of loss of DNA mismatch repair (MMR) function.

MMR

microsatellite instability


Input: Mutations in other regulatory genes such as HESX1, PROP1, PIT1/POU1F1, and GLI2 have been shown to be additional causes of pituitary hormone deficiency, but overall, the etiology of many cases of hypopituitarism is not understood.

pituitary hormone deficiency


Input: In this study, CRC from 329 Alaska Native people (165 Eskimo, 111 Indians, and 53 Aleut) were evaluated for evidence of defective DNA mismatch repair (MMR) by testing tumors for altered protein expression (hMLH1, hMSH2, and hMSH6) and for the presence of microsatellite instability.

MMR

microsatellite instability


Input: Differences in mean body mass index (BMI) and other anthropometric measures including weight, waist circumference, and waist-to-hip ratio were assessed by a general linear model in individuals categorized by INSIG2 rs7566605 genotype.

weight


Input: These data show a relation between the E-cadherin 3'-UTR C--> T polymorphism, the-160 A/-347 GA haplotype of two promoter polymorphisms and risk of endometriosis, suggesting a potential role in endometriosis development, at least in North Chinese women.

UTR

endometriosis


Input: Transgenic expression of Cd36 in the new lines was associated with significantly decreased serum fatty acids, amelioration of insulin resistance and glucose intolerance but failed to induce any consistent changes in blood pressure as measured by radiotelemetry.

blood pressure


Input: Strikingly, a mutation in p150 (Glued) causal for the lethal neurodegenerative disorder Perry syndrome abrogates this anti-catastrophe activity.

p150 (Glued

Perry syndrome

p150 (Glued

Perry syndrome


Input: Moreover, silibinin reduced hypoxia-induced vascular endothelial growth factor (VEGF) release by HeLa and Hep3B cells, and this effect was potentiated by the PI3K/Akt inhibitor LY294002.

VEGF

hypoxia


Input: Constitutive expression of Fas ligand (Fas L) was found in the basal layer of the normal esophageal mucosa and in IEUs and cytomegalovirus ulcerations.

Fas ligand

cytomegalovirus


Input: These data indicate that sKlotho levels are not affected in type 2 diabetes patients with and without MVD.

MVD

type 2 diabetes


Input: Our analysis effectively identified clonal events, including a novel translocation of a super enhancer to the TERT promoter, as well as subclonal LOH and multiple EGFR mutational variants within tumors.

TERT

translocation


Input: These findings suggest that secretin promotes the metabolism of serotonin and dopamine in the central nervous system, which may contribute to improvement in clinical symptoms of autism.

secretin

autism

secretin

autism


Input: While 30 days of obstruction in utero between 75 and 105 days gestation resulted in overall growth of the fetal bladder as assessed by weight, protein, and DNA measurements, we found that apoptosis, as assessed by in situ end-labeling, was up-regulated in fetal bladder detrusor muscle and lamina propria cells and that this was accompanied by a down-regulation of the anti-death protein Bcl-2 and an up-regulation of the pro-death protein Bax.

weight


Input: One case showed prominent mucinous differentiation, which, coupled with high-molecular-weight keratins (HMWK) positivity, mimicked mucoepidermoid carcinoma (MEC).

HMWK

weight


Input: VEGF expression decreased under acidic conditions in 2 cell lines, but the hypoxia stimulus remained effective under acidic conditions.

VEGF

hypoxia


Input: Here, we show stable expression and functional analysis of rat NaV1. 8 (rNaV1. 8) in the rat DRG/mouse N18Tg2 neuroblastoma hybridoma cell line ND7-23.

DRG

neuroblastoma