Input: The ic-STZ-injected rats did not have elevated blood glucose levels, and pancreatic architecture and insulin immunoreactivity were similar to control, yet their brains were reduced in size and exhibited neurodegeneration associated with cell loss, gliosis, and increased immunoreactivity for p53, active glycogen synthase kinase 3beta, phospho-tau, ubiquitin, and amyloid-beta.

STZ

gliosis


Input: To search for a novel serologic PC biomarker, we carried out an integrated proteomic analysis for a total of 185 pooled or individual plasma from healthy donors and patients with five disease groups including chronic pancreatitis (CP), PC, and other cancers (e. g., hepatocellular carcinoma, cholangiocarcinoma, and gastric cancer) and identified complement factor b (CFB) as a candidate serologic biomarker for PC diagnosis.

CFB

cholangiocarcinoma


Input: In the current study, we report the effectiveness of the peptide Ac2-26 as an antiallergic tool in a model of rat pleurisy and provide indication for some of the mechanisms involved.

pleurisy


Input: CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.

melanoma

melanoma


Input: This deletion affects not only COL3A1 but also 21 other known genes (GULP1, DIRC1, COL5A2, WDR75, SLC40A1, ASNSD1, ANKAR, OSGEPL1, ORMDL1, LOC100129592, PMS1, MSTN, C2orf88, HIBCH, INPP1, MFSD6, TMEM194B, NAB1, GLS, STAT1, and STAT4), mutations in three of which (COL5A2, SLC40A1, and MSTN) have also been associated with an autosomal dominant disorder (EDS classical type, hemochromatosis type 4, and muscle hypertrophy).

hemochromatosis type 4


Input: Human colorectal cancers relative to matched normal mucosa showed increased NR4A2 expression.

colorectal cancers

colorectal cancers


Input: Immunoblotting confirmed HIF-1α, Ets-1, VEGF and MMP-2 are up-regulated in HASMC exposed to hypoxia (p < 0. 05), while transcription for MMP-1, MT-MMP-1, MMP-9, MMP-2 and MMP-7 (p < 0. 05) increased in hypoxic HASMCs.

VEGF

hypoxic


Input: These data suggest distinct roles of the GluN2A subunit as whole vs. its intracellular domain in modulating anxiety and depression-like symptoms and reveal differential molecular targets for the therapy of mood and anxiety disorders.

depression

depression


Input: Multivariate Cox regression analysis revealed decreased FAK expression and pelvic lymph node metastasis to be significant independent factors predictive of poor disease outcome (hazard ratio, 0. 36; P = 0. 005; hazard ratio, 2. 38; P = 0. 018, respectively).

FAK

lymph node metastasis


Input: Ovarian carcinoma cells overexpress Glut1, pAkt, and pmTOR compared with benign ovarian epithelial cells.

Ovarian carcinoma

Ovarian carcinoma


Input: Tempol attenuated cardiac hypertrophy in G4H (-/-) mice (heart: tibia, Con 6. 82 ± 0. 35, G4H (-/-) 8. 83 ± 0. 34, Con + T 6. 82 ± 0. 46, G4H (-/-) + T 7. 57 ± 0. 3), without changing GSH: GSSG, glutathione peroxidase 4 or membrane translocation of the p67 (phox).

glutathione peroxidase 4

cardiac hypertrophy


Input: In this translocation, the AML1 (CBFA2/PEBP2aB) gene is disrupted and fused to the MTG8 (ETO) gene.

translocation


Input: LGB321 is active on PIM2-dependent multiple myeloma cell lines, where it inhibits proliferation, mTOR-C1 signaling and phosphorylation of BAD.

BAD

multiple myeloma


Input: We further identified a refined signature of 36 genes as the gene panel, including SOX2, POU3F2, FGFR2, GAP43, NTRK2, NTRK3, and NKX2-2, which are highly enriched in the nervous system.

nervous system


Input: In addition, intrathecal GLP-1R agonists GLP-1 (7-36) and exenatide potently alleviated formalin-, peripheral nerve injury-, bone cancer-, and diabetes-induced hypersensitivity states by 60-90%, without affecting acute nociceptive responses.

bone cancer


Input: Postmortem studies identified PKCI/HINT1 as a candidate molecule for schizophrenia and bipolar disorder.

bipolar disorder

bipolar disorder


Input: In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.

Maffucci syndrome

Maffucci syndrome


Input: We performed this study to evaluate the role of MCP-1 for the pathogenesis of PH in experimental CDH.

CDH

CDH


Input: LEW rats injected with myelin basic protein (MBP) developed experimental autoimmune encephalomyelitis (EAE) and associated anterior uveitis (AU), which was mediated by CD4 (+) T cells.

anterior uveitis


Input: Moreover, we found TGF-β-mediated down-regulation of miR-584 and increased expression of PHACTR1 to be required for TGF-β-induced cell migration of breast cancer cells.

breast cancer


Input: The K-sam-related gene, N-sam (NCC-IT-cell-derived sam), was isolated by screening of the cDNA libraries of human immature teratoma cells, NCC-IT.

NCC

immature teratoma


Input: In this study, we investigated a possible association between polymorphisms of the GSTM1, NQO1, and NQO2 genes and alcohol withdrawal symptoms such as delirium tremens, hallucination, and seizure.

delirium tremens


Input: The asymptomatic carriers were shown to have a high frequency of pro-inflammatory monocytes and anti-inflammatory IL-10 + CD4 + and IL-10 + CD8 + T-cells, as an immunoregulatory mechanism to counterbalance the monocyte-derived TNF-alpha.

asymptomatic


Input: We studied the expression level of the miRNA processing enzyme (DICER1, DGCR8, and RNASEN) in esophageal squamous cell carcinoma (ESCC).

esophageal squamous cell carcinoma


Input: A specialized subset of CD4 T cells, CD4 + CD28-T cells, are suspected to participate in tissue injury in the plaque.

plaque


Input: Mutations in the androgen receptor gene in 46, XY individuals can be associated with the androgen insensitivity syndrome, of which the phenotype can vary from a female phenotype to an undervirilized or infertile male phenotype.

androgen receptor

androgen insensitivity syndrome

androgen receptor

androgen insensitivity syndrome


Input: EMMPRIN immunoreactivity was detected in all of the cysts and DFs studied.

EMMPRIN

cysts


Input: The role of mismatch repair (MMR) in small-cell lung cancer (SCLC) is controversial, as the phenotype of a MMR-deficiency, microsatellite instability (MSI), has been reported to range from 0 to 76%.

MMR

microsatellite instability


Input: Endothelin-1 has been associated with development of hypoxia-related pulmonary hypertension and vascular endothelial growth factor (VEGF) with protection from this complication.

VEGF

hypoxia


Input: Likewise, a rapid and sustained elevation of Fn14 mRNA and protein levels in the left ventricle was observed after experimental MI.

MI

MI


Input: Polymerase chain reaction (PCR) with specific primers was performed to analyze the presence of MT1-, MT2-, MT3-, and MT4-MMP in synovial tissue and synovial fibroblasts from 10 patients with RA and 4 subjects without arthritis.

arthritis


Input: Downstream in the PI-3 kinase signaling pathway, GLP-1 (9-36) inhibited SDF-1-induced phosphorylation of MLC and cofilin and decreased f-actin formation as well as ICAM3 translocation as shown by Western blotting, flow cytometry and immunohistochemistry, respectively.

MLC

translocation


Input: We measured the serum EPO levels and the concurrent hemoglobin (Hb) concentrations in 40 patients polytransfused for beta-thalassemia major, in 18 patients with iron deficiency anemia (IDA), and 32 healthy subjects.

EPO

hemoglobin


Input: To investigate the relation between the expression of MGMT and hMLH1 and the CpG methylation within their promoters in HCCs with or without hepatitis viral infection, we performed immunohistochemistry and urea/bisulphite sequencing on 46 HCCs, corresponding noncancerous tissues, and 20 normal liver tissues.

MGMT

viral infection


Input: Therefore, we comprehensively addressed the relationship between Ucr-correction and UFR-correction of ten urinary biomarkers N-acetyl-& #946;-d-glucosaminidase (NAG), lactate dehydrogenase (LDH), total protein, albumin, kidney injury molecule-1, neutrophil gelatinase-associated lipocalin, clusterin, & #946; (2)-microglobulin, cystatin-c and glutathione S-transferase-& #945; in non-steady state situations such as AKI.

cystatin-c

AKI

cystatin-c

AKI


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

infantile spasms


Input: We analyzed CpG island hypermethylation in 15 genes (APC, CDH1, COX2, DAPK, FHIT, GSTP1, HLTF1, hMLH1, MGMT, p14, p16, RASSF1A, RUNX3, THBS1, and TIMP3) and its association with the methylene-tetrahydrofolate reductase (MTHFR) C677T and A1298C and the methionine synthase (MS) A2756G polymorphisms in 82 Korean women with uterine cervical cancer.

uterine cervical cancer


Input: Our findings indicate that the-206G > A polymorphism in the SPINK5 is associated with asthma susceptibility in a Chinese Han population.

asthma susceptibility


Input: Association between demographic and pathologic variables EGFR TKI response, time to treatment failure (TTF) and overall survival (OS) was examined using logistic regression and proportional hazards regression.

EGFR

regression


Input: In vivo expression of Toll-like receptor 2, Toll-like receptor 4, CSF2 and LY64 in Chinese chronic periodontitis patients.

chronic periodontitis


Input: PCNA labeling indexes (as% +/-SD) were 34. 8 +/-12. 2, and 28. 4 +/-9. 3 in achalasia and control groups, respectively (P > 0. 05).

PCNA

achalasia


Input: These results provide a comprehensive database of genes responsive to hPNPase (old-35) expression levels; along with the identification new potential candidate genes offering fresh insight into cellular pathways regulated by PNPT1 and which may be used in the future for possible therapeutic intervention in mitochondrial-or inflammation-associated disease phenotypes.

inflammation


Input: In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5).

calcitonin

mental retardation

calcitonin

mental retardation


Input: Human telomerase reverse transcriptase (hTERT), the human telomerase catalytic subunit, and also the key determinant of the enzymatic activity of human telomerase, is regulated both at the transcriptional level and via phosphorylation and translocation.

telomerase catalytic subunit

translocation


Input: In those patients who survive the initial phase of poisoning, filgrastim (granulocyte colony-stimulating factor) offers an effective method of treating pancytopenia and preventing overwhelming septicemia.

filgrastim

septicemia

filgrastim

septicemia


Input: RhoC regulates the proliferation of gastric cancer cells through interaction with IQGAP1.

RhoC

gastric cancer


Input: Colitis modified anxiety-and depression-related behaviour in a sex-, genotype-and test-related manner, and knockout experiments indicated that NPY and PYY were involved in some of these behavioural effects of colitis.

PYY

colitis


Input: C282Y/H63D mutations of HFE gene were evaluated in 132 patients (34 in peritoneal dialysis, 98 in HD) and correlated with biochemical parameters of iron status (ferritin (FER) concentration and transferrin saturation (TSAT)), red cell parameters (red cell size and hemoglobin content), erythropoietin (EPO) dosage, major cardiovascular events and C-reactive protein as marker of chronic inflammation, in patients without iron therapy and after i. v.

EPO

hemoglobin


Input: In summary, we propose an idea that PSAT1 may be implicated in altered serine metabolism and schizophrenia spectrum conditions.

schizophrenia

schizophrenia


Input: Exome sequencing data analysis led to the identification of IFT140 variants in multiple unrelated non-syndromic LCA and RP cases.

RP

RP


Input: Smoking, alcoholism and genetic polymorphisms alter CYP2B6 levels in human brain.

alcoholism

alcoholism


Input: The transcription factor NF-kappaB (NF-kB) is a key regulator of cytokine and chemokine production in melanoma and is responsible for symptoms such as anorexia, fatigue, and weight loss.

NF-kappaB

fatigue


Input: A primary role of DQB1 * 0601 in determination of the susceptibility to cardiac sarcoidosis was supported by association analysis using four polymorphic microsatellite markers, in which only the TAP1 microsatellite locus, the nearest marker to the DQB1 gene among the microsatellites tested, displayed a significant positive association with cardiac sarcoidosis.

cardiac sarcoidosis


Input: We have identified a new case of glucocorticoid resistance caused by a novel mutation of the human glucocorticoid receptor (hGR) gene and studied the molecular mechanisms through which the mutant receptor impairs glucocorticoid signal transduction.

hGR

glucocorticoid resistance

hGR

glucocorticoid resistance


Input: This is the first report of congenital cerulean cataract associated with a mutation in CRYBB2 in a Chinese family.

cerulean cataract

cerulean cataract


Input: We compared the expression of the genes encoding SULF1, SULF2 and heparan sulfate proteoglycans in a large panel of cancer samples to their normal tissue counterparts using publicly available gene expression data, including the data obtained from two cohorts of newly-diagnosed multiple myeloma patients, the Oncomine Cancer Microarray database, the Amazonia data base and the ITTACA database.

multiple myeloma


Input: IKKβ as positive regulator of NF-κB is also destabilized by Keap1, which resulted in inhibiting NF-κB-derived tumor promotion.

NF-κB

tumor promotion


Input: We have previously demonstrated that bcl-2 overexpression in tumor cells exposed to hypoxia increases the expression of vascular endothelial growth factor (VEGF) gene through the hypoxia-inducible factor-1 (HIF-1).

VEGF

hypoxia


Input: Pharmaceutical inhibition of HIF-1 activation resulted in increased survival rates of mice suffering from a S. aureus peritonitis.

peritonitis


Input: DcR2 was significantly more abundant in tumor cells than in non-neoplastic ones and may contribute to partial resistance to TRAIL in some prostate tumor cells.

non-neoplastic


Input: Moreover, transfer of TRAF1 (+) but not TRAF1 (-) memory T cells at the chronic stage of infection reduces viral load.

viral load


Input: TRPC6, TRPM6, and TRPP2 have been implicated in hereditary focal segmental glomerulosclerosis (FSGS), hypomagnesemia with secondary hypocalcemia (HSH), and polycystic kidney disease (PKD), respectively.

hypomagnesemia with secondary hypocalcemia


Input: This study identified double-stranded RNA-binding protein 76/NF90 (DRBP76/NF90), a specific isoform of the DRBP family, as a VEGF mRNA-binding protein which plays a key role in VEGF mRNA stability and protein synthesis under hypoxia.

VEGF

hypoxia


Input: VAMP7 regulates constitutive membrane incorporation of the cold-activated channel TRPM8.

cold


Input: Most SH-HCC morphology appears to result from a typical HCC that retains the ability to respond to the metabolic syndrome and develops features of steatohepatitis.

HCC

metabolic syndrome


Input: Blood samples were collected at 0, 2, 4, and 6 h. Insulin with glucose infusion led to the maintenance of euglycemia and a significant suppression of reactive oxygen species (ROS) generation, p47 (phox) expression, Toll-like receptor (TLR)-4, TLR-2, TLR-1, CD14, high-mobility group-B1 (HMGB1), p38 mitogen-activated protein (MAP) kinase, c-Jun NH2-terminal kinase (JNK)-1, and platelet/endothelial cell adhesion molecule expression and a fall in serum concentrations of C-reactive protein, HMGB1, and rapid upon activation T cell expressed and secreted.

C-reactive protein

fall


Input: In both models, the induction of Notch3 and Hes1 were partially opposed by AGT251, which correlated with ameliorations in body and muscle weight, reduction of muscular atrophy markers, and improved survival.

muscular atrophy


Input: The most common partner gene was BCL2 (19 patients; 27% of IGH translocation-positive patients), followed by BCL6 (16; 23%), BCL1 (11; 16%), c-MYC (7; 10%), and PAX-5 (2; 3%).

translocation


Input: Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.

hearing impairment


Input: Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.

Hennekam lymphangiectasia-lymphedema syndrome 3

Hennekam lymphangiectasia-lymphedema syndrome 3


Input: Hereditary glomus tumour (MIM 168, 000) or paraganglioma (PGL) is a slowly progressive disorder causing benign tumour growth predominantly in the head and neck region.

MIM

benign tumour


Input: Our results suggested that DRD2 * A2/A2 genotype might be associated with a greater smoking intensity in Chinese.

smoking


Input: A high BAG-1 expression predicts improved patient outcome in ER + breast carcinoma.

breast carcinoma

breast carcinoma


Input: Given that MCI can also result from cerebrovascular disease (CVD), the authors used clinical, MRI, and cognitive measures of AD and CVD to test the hypothesis that CVD increases the likelihood of progression from MCI to dementia within 3 years.

MRI

cerebrovascular disease


Input: ELISA revealed significant elevation of CHI3L1 in the CSF of multiple sclerosis (MS) patients as well as mild elevation with aging.

mild


Input: The mutations in SLMAP may cause Brugada syndrome via modulating the intracellular trafficking of hNav1. 5 channel.

SLMAP

Brugada syndrome

SLMAP

Brugada syndrome


Input: By comparing genome-wide gene expression data from muscle biopsies of patients with FSHD to those of 11 other neuromuscular disorders, paired-like homeodomain transcription factor 1 (PITX1) was found specifically up-regulated in patients with FSHD.

transcription factor 1

neuromuscular disorders


Input: Moreover, forced expression of SSBP2 inhibited prostate cancer cell proliferation in the colony formation assay and caused cell cycle arrest.

prostate cancer

prostate cancer


Input: We genotyped 711 children for 2 FTO SNPs (rs9939973 and rs9939609), analyzed lifestyle factors, and investigated the potential involvement of FTO variants in being overweight comparing with 8842 adults in the KSNP database.

FTO

overweight


Input: This suggests that the SLC12A3 gene is involved in mediation of blood pressure levels.

SLC12A3 gene

blood pressure


Input: These results highlighted the antagonistic roles of ECM1 and miR-92a in GC development, which may serve as a new target for gastric cancer.

gastric cancer

gastric cancer


Input: SIRT1 histone deacetylase expression is associated with microsatellite instability and CpG island methylator phenotype in colorectal cancer.

microsatellite instability


Input: Since staggerer mice, which carry a deletion in the ROR alpha gene, suffer from immune abnormalities, we generated an adenovirus encoding ROR alpha1 to investigate its potential role in control of the inflammatory response.

ROR

adenovirus


Input: When stimulated with H. pylori antigens, T cells from both peripheral blood and gastric mucosa of H. pylori-infected GC patients produced high amounts of IL-10, while the IL-10 production from blood T cells of H. pylori-infected asymptomatic subjects was low.

asymptomatic


Input: AIM, SETTING AND DESIGN: In the present study, we examined the association of the GSTM1 and GSTT1 gene polymorphisms with sporadic prostate cancer patients in north Indian population.

AIM

prostate cancer


Input: The aim of the study was to assess the immunohistochemical expression of RASSF1A in normal endometrium and endometrial carcinoma, and to correlate its expression with K-RAS mutations, presence of microsatellite instability, RASSF1A promoter methylation, and clinicopathological data.

microsatellite instability


Input: Adenoviral-mediated overexpression of a mutant, hyperactive form of beta-catenin in CWR22-Rv1 CaP cells led to increased aryl hydrocarbon receptor (AhR, or dioxin receptor) and transmembrane protein 2 RNA transcript expression, as detected by cDNA-microarray analyses.

transmembrane protein 2

hyperactive


Input: Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.

CA II

Carbonic anhydrase II deficiency

CA II

Carbonic anhydrase II deficiency


Input: We report that changes in miR expression patterns during progression of normal tissues to invasive pancreatic adenocarcinoma in the p48-Cre/LSL-Kras (G12D) mouse model mirrors the miR changes observed in human pancreatic cancer tissues.

pancreatic cancer


Input: In these mice with conditional neuronal NF-κB ablation, the clinical course of MOG-EAE, parameters of inflammation and axonal densities in the spinal cord white and grey matter as well as numbers of alpha motorneurons are not different to littermate controls.

MOG

inflammation


Input: Three of five relatives had mild hypercalcemia [s-Ca, 10. 7-11. 2 mg/dl (2. 67-2. 80 mmol/liter)] and detectable serum PTH [24. 5-29. 0 pg/ml (2. 6-3. 1 pmol/liter)].

PTH

mild


Input: Mutations in the DYNC1H1 gene encoding for dynein heavy chain cause two closely related human motor neuropathies, dominant spinal muscular atrophy with lower extremity predominance (SMA-LED) and axonal Charcot-Marie-Tooth (CMT) disease, and lead to sensory neuropathy and striatal atrophy in mutant mice.

sensory neuropathy


Input: We have previously demonstrated that loss of one candidate gene at this locus, cyclin-dependent kinase inhibitor 2B (Cdkn2b), in mice promotes vascular SMC apoptosis and aneurysm progression.

aneurysm


Input: The variants of the causal genes were selected based on their functions, including: obesity (adrenergic, beta-3-, receptor: ADRB3), alcohol consumption (aldehyde dehydrogenase 2: ALDH2), water-electrolyte metabolism (guanine nucleotide binding protein [G protein], beta polypeptide 3: GNB3), glycometabolism (peroxisome proliferator-activated receptor gamma: PPARG), lipometabolism (cholesteryl ester transfer protein, plasma: CETP), atherosclerosis (5, 10-methylenetetrahydrofolate reductase [NADPH]: MTHFR), and cellular behavior (gap junction protein, alpha 4, 37 kD: GJA4).

CETP

alcohol consumption


Input: The purpose of our study was to characterize novel ASS1 gene mutations identified in CTLN1 patients.


Input: Urine albumine/creatinine ratio (ACR), mean blood pressure (MBP) and index of glomerular filtration rate (GFR) based on S-creatinine were determined.

GFR

mean blood pressure


Input: Despite identifying seven exonic variants with a minor allele frequency (MAF) > 0. 01, none was significantly associated with schizophrenia (minimum P = 0. 054), showing that the strong association we previously reported in this sample is not the result of association to a common functional variant located within the exonic sequence of any of the three major DTNBP1 transcripts.

MAF

schizophrenia


Input: An adenovirus encoding the complete Mfn2 open reading frame (Ad-Mfn2) was used to infect UBCC cells, and an adenoviral vector encoding green fluorescent protein (Ad-GFP) was used as a control.

adenovirus


Input: To determine whether the COMT gene is associated with personality traits related to genetic risk for either schizophrenia or bipolar disorder, we examined dimensions of personality psychopathology in biological relatives of individuals with the disorders.

COMT gene

personality traits


Input: We found that Hdac6-deficient mice exhibit hyperactivity, less anxiety, and antidepressant-like behavior in behavioral tests.

hyperactivity


Input: The morphology was typical of mucosa-associated lymphoid tissue lymphoma, and by immunophenotype, the tumor cells were CD20 + CD5-CD10-CD23-CD43-BCL6-BCL2 + IgM + IgD-lambda +, with moderate nuclear expression of BCL10.

mucosa-associated lymphoid tissue lymphoma


Input: We propose that inborn errors in the human ATR gene identified here result in methylmalonyl aciduria.

ATR gene

aciduria


Input: MC4R dysfunction in humans causes hyperphagia, impaired satiety and obesity.

obesity

obesity


Input: On this basis, we predicted that hyperplastic aberrant crypt foci (ACF), a putative precancerous lesion found in the colon, exhibiting a serrated phenotype would also harbor BRAF mutations and that non-serrated ACF would not.

BRAF

aberrant crypt foci


Input: Western blotting revealed downregulated TRPV1 and PGC1α as well as upregulated UCP2 and activation of GSK3β, GATA4, and CREB in cold-stressed WT mouse hearts, which were obliterated by ETAKO.

cold


Input: Despite these differences, the hsp25 promoter from P388 cells mediates heat shock-induced activation of a reporter gene when transfected into human HeLa cells which is comparable to that of the hsp25 promoter from EAT cells.

shock


Input: Maspin, Pdcd4, and miR-21 expressions were evaluated by a real-time polymerase chain reaction in 20 endometrial cancer and 10 normal endometrium samples.

Maspin

endometrial cancer


Input: Inhibition of SEK1 rendered hypoxic cells more sensitive to oxaliplatin in vitro, whereas the opposite effect was observed in MKK7-deficient cells.

hypoxic


Input: Overexpression of MTDH reduced anchorage-independent and-dependent growth through arresting cell cycle, inhibited migration and invasion in vitro and further suppressed tumorigenesis, tumour growth and metastasis in vivo.

MTDH

tumorigenesis


Input: JNK1-/-mice showed less ear thickening and infiltration of eosinophils and mast cells in AD-like lesions than did WT mice when treated with MC903.

AD

AD


Input: Class comparison analysis by significance analysis of microarrays on a subset of CLL samples (n = 14) indicated that a number of cell surface receptor and adhesion related genes were under-expressed in the 11q22. 3 deletion group (CD44, CD11a, PTPRC, CD79a, chemokine ligand 17 and chemokine receptor type 6).

PTPRC

adhesion


Input: When PKC-mediated MARCKS phosphorylation was determined, it was observed that MARCKS phosphorylation was significantly decreased in the membrane fraction of PFC and hippocampus obtained from total suicide subjects as well as depressed and non-depressed suicide subjects compared with control population.

MARCKS

suicide


Input: In the present study, the expression levels of stathmin and EF1α in relation to telomere length, telomere dysfunction-induced foci (TIF), γ-H2AX, and p21WAF1/CIP1 expression were assessed in specimens of hepatitis B virus (HBV)-related multistep hepatocarcinogenesis, including 13 liver cirrhosis specimens, 14 low-grade dysplastic nodules (DN), 17 high-grade DNs, and 14 hepatocellular carcinomas (HCC).

TIF

liver cirrhosis


Input: The mRNA and protein level of VEGF-A in MBT-2 cells increased by 70% at 48 hours interval under hypoxia stress condition.

MBT

hypoxia


Input: Several XLMR occur as severe early onset encephalopathies: Lowe oculocerebrorenal syndrome, ATR-X syndrome (alpha thalassemia/mental retardation X-linked), Allan-Herdon-Dudley syndrome (MCT8 gene).

encephalopathies


Input: More recently, studies have suggested expanding the spectrum of MYC/BCL2 DHL to include cases that have concurrent MYC and BCL2 cytogenetic abnormalities, but not necessarily translocations.

MYC

cytogenetic abnormalities


Input: However, the association of the TNF2 allele with carbamazepine hypersensitivity was not independent of HLA-DR3 and-DQ2, and therefore the possibility that it constitutes a passive component of the TNF2-DR3-DQ2 haplotype cannot be excluded.

hypersensitivity


Input: To identify novel JS genes, we performed whole exome sequencing on 35 individuals with JS and found biallelic rare deleterious variants (RDVs) in KIAA0586, encoding a centrosomal protein required for ciliogenesis, in one individual.

JS

JS


Input: Role of the growth arrest-specific gene 6 (gas6) product in thrombus stabilization.

thrombus

thrombus


Input: The TGFβ-509TT genotype was associated with higher plasma viral load.

TGFβ

viral load


Input: They specifically lack Phox2b-expressing glutamatergic neurons located in the parafacial region, whereas other sites known or supposed to be involved in the control of breathing are anatomically normal.

breathing


Input: Both linkage and association analysis identified several ADH1C alleles and a neighboring microsatellite marker that affected risk of alcohol dependence and were also related to binge drinking.

binge drinking


Input: Hair whitening score (2. 7 ± 1. 3 vs. 3. 3 ± 1. 2, p = 0. 002), hair losing score (1. 2 ± 0. 9 vs. 1. 5 ± 1. 0, p = 0. 038) and xanthelasma rate (24% vs. 45%, p = 0. 013) were also significantly different between NCA and CAD groups.

NCA

xanthelasma


Input: In the present study the expression of vascular endothelial growth factor (VEGF) was investigated and compared to microvessel density and necrosis of renal cell carcinomas.

VEGF

necrosis


Input: DNA was extracted from neoplasms, normal mucosa, and/or white blood cells for analyses of microsatellite instability (MSI), BRAF mutation, MLH1 methylation, and sequencing of MMR genes.

MMR

microsatellite instability


Input: Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.

depression

depression


Input: The t (14; 18) (q32; q21) chromosomal translocation, characteristic of follicular lymphoma, couples the bcl-2 protooncogene on chromosome 18 to the immunoglobulin heavy-chain joining region (JH).

chromosomal translocation


Input: We created a Markov Decision Model to evaluate, in untreated Caucasian patients age 50 years, weight 70 kg, with G (1) CHC and Metavir F2 liver fibrosis score, for a time horizon of 20 years, the cost-effectiveness of the following five competing strategies: 1) boceprevir response-guided therapy (BOC-RGT); 2) boceprevir IL28B genotype-guided strategy (BOC-IL28B); 3) boceprevir rapid virologic response (RVR)-guided strategy (BOC-RVR); 4) telaprevir response-guided therapy (TVR-RGT); 5) telaprevir IL28B genotype-guided strategy (TVR-IL28B).

BOC

weight


Input: The aim of this study was to explore the in vivo expressions of TLR2, TLR4, CSF2 and LY64 in Chinese chronic periodontitis patients.

chronic periodontitis


Input: Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia.

alpha-chain

alpha-thalassemia


Input: The early-onset of Wilson' s disease is apparently not associated with P-ATPase domain in the ATP7B protein.

Wilson' s disease

Wilson' s disease


Input: The major purposes of this study were to explore the roles of FGF-9 in the benzo (a) pyrene-induced lung cancer invasion in vitro and the metastatic development of lung adenocarcinoma in human.

lung cancer

lung cancer


Input: In our study we tested the effect of in vitro lithium treatment on SAT1 gene and protein expression in B lymphoblastoid cell lines (BLCLs) from bipolar disorder (BD) patients who committed suicide (and for which BLCLs were collected prior to their death), BD patients with high and low risk of suicide and a sample of non-psychiatric controls.

bipolar disorder

bipolar disorder


Input: They implicate CHOP as a common contributing factor in the development of HCC in a variety of chronic liver diseases.

HCC

liver diseases


Input: Our results show significantly higher (p < 0. 001) expression of CCR9 and CCL25 in serous adenocarcinoma followed by serous papillary cystadenoma, endometrioid adenocarcinoma, mucinous adenocarcinoma, cystadenoma, mucinous boderline adenocarcinoma, clear cell carcinoma, granulosa cell tumor, dysgerminoma, transitional cell carcinoma, Brenner tumor, yolk sac tumor, adenocarcinoma and fibroma cases, compared to non-neoplastic ovarian tissue.

clear cell carcinoma


Input: This suggests that the 54G variant and CD45 splicing abnormalities might be associated with HIV infection.

abnormalities


Input: Increased & lt; i & gt; JMJD6 & lt;/i & gt; expression is found in several human cancers, including melanoma, suggesting that the up-regulation of Jmjd6 is a critical event in tumor progression.

melanoma

melanoma


Input: In this study, we show that stimulation of α7nAChR on human polymorphonuclear neutrophils (PMNs) and blood mononuclear phagocytes in vitro attenuates C5aR-and FcγR-triggered generation of reactive oxygen species, expression of leukocyte markers involved in cell recruitment and adhesion, and release of TNF-α and other proinflammatory cytokines.

adhesion


Input: We found: 1, The abundant expression of the C17orf25 gene was evident in all the cell lines and tissue samples tested, showing little hepatoma-selectivity; 2, Its transcription starts at a single site, locating at-60 from the translation initiation codon; 3, A 58 bp fragment containing the transcription start, extending from-112 to-55, represents the minimal promoter; 4, The consensus sequence within this fragment recognized by SP1 contributes predominantly to the activity of the minimal promoter; 5, The bioinformatic analysis suggests that the C17orf25 gene may encode a protein in the family of the glyoxalase.

hepatoma


Input: We identified a recurrent GPR101 mutation (p. E308D) in 11 of 248 patients with acromegaly, with the mutation found mostly in tumors.

acromegaly

acromegaly


Input: Identification of ATF-3, caveolin-1, DLC-1, and NM23-H2 as putative antitumorigenic, progesterone-regulated genes for ovarian cancer cells by gene profiling.

ovarian cancer

ovarian cancer


Input: As purinergic mediators have been implicated in intestinal inflammation, we hypothesized that CD39 might protect against inflammatory bowel disease.

inflammation


Input: The encapsulated BHK-VEGF cell grafts significantly reduced the volume of the infarct and the number of apoptotic cells in the penumbral area when compared with the effect of the BHK-control cell capsule.

VEGF

infarct


Input: The objective of this study was to determine if blockade of communication via the CD40-CD40 ligand (CD40L) interaction between placental ischemia-induced CD4 (+) T cells with endogenous normal pregnant (NP) cells would improve pathophysiology that was previously observed in NP recipient rats of RUPP CD4 (+) T cells.

ischemia


Input: Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

Stickler syndrome

Stickler syndrome


Input: The results suggest that both VEGF and bFGF are major angiogenesis factors in salivary gland tumors, and hypoxia-induced angiogenesis results from upregulation of VEGF and increased release of bFGF.

VEGF

hypoxia


Input: PCNA-immunopositive cells were barely detectable in the peri-infarct zone at 2 h; however, numerous PCNA-immunopositive cells were present in this zone by 24 h (0. 7 +/-0. 3 and 10. 6 +/-1. 5 immunopositive cells/0. 25 mm2, respectively) as well as in the adjacent cortex and in the contralateral cingulate cortex.

PCNA

infarct


Input: Calcium, parathyroid hormone, vitamin D metabolites and bone mineral density (BMD, g/cm (2)) at the hip and in the spine (L (1)-L (4)) were examined.

parathyroid hormone

bone mineral density


Input: Here, results of screening of C20orf54 in three unrelated BVVLS patients are reported.

BVVLS

BVVLS


Input: It inhibited VEGF-induced activation of AKT and ERK signaling and reduced hypoxia-enhanced HepG2 cell survivability.

VEGF

hypoxia


Input: Astrocyte elevated gene-1 (AEG-1) expression is increased in diverse human cancers and plays a vital role in tumorigenesis and progression.

tumorigenesis


Input: Methylation of ALX4 was analyzed in colorectal adenomas and cancers, in the liver metastases of patients with colorectal cancer, and in 61 other neoplasias, including gastric, esophageal, and hepatocellular cancer and cholangiocarcinoma.

esophageal


Input: Atrial natriuretic peptide reverses experimental acute renal failure induced by arginine vasopressin.

arginine vasopressin

acute renal failure

arginine vasopressin

acute renal failure


Input: These results demonstrate that NAC protects against renal dysfunction, morphological damage and biochemical changes via the anti-apoptotic pathway in the glycerol-induced rhabdomyolysis model in rats.

NAC

rhabdomyolysis


Input: For COPD severity, explanatory variables were FEV1, exacerbation history, hypoxia, respiratory symptoms, inhaled steroids, and CRP.

CRP

hypoxia


Input: Our results suggest that autosomal-dominant TWIST2 mutations cause AMS or BSS by inducing protean effects on the transcription factor' s DNA binding.

BSS

BSS


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

translocation


Input: Since the brain tissue microenvironmental niche is a prerequisite for expression of the stem cell marker CD133 antigen in brain tumors, we investigated the invasion mechanisms specific to CD133 (+) U87 glioblastoma cells in response to lysophosphatidic acid (LPA) and sphingosine 1-phosphate (S1P), two circulating bioactive lysophospholipids and potent inducers of cancer.

brain tumors


Input: It is concluded that upregulated ERalpha in prostatic stroma may have a greater modulating influence on synthesis of certain growth factors than the direct action of androgens and, by enhancing synthesis of FGF-2 and FGF-7, could play a significant role in the development of BPH.

BPH

BPH


Input: These results suggest that the RPS4X/YB-1 complex is a significant potential target to counteract cisplatin resistance in breast cancer.

breast cancer

breast cancer


Input: We found that 10 of the 14 dyslexia candidate genes (ROBO1, KIAA0319, KIAA0319L, S100B, DOCK4, FMR1, DIP2A, GTF2I, DYX1C1 and DCDC2) fit into a theoretical molecular network involved in neuronal migration and neurite outgrowth.

dyslexia


Input: Apocynin treatment reduced IP levels in SHR to 52%, NOS1 IR to 69%, and renin IR to 62% of untreated SHR, whereas renin mRNA, COX-2 IR, glomerular filtration rate, PRA, and systolic blood pressure remained unchanged.

systolic blood pressure


Input: Furthermore, using quantitative trait TDT analyses, we found significant and positive relationships between Haplotype 3 transmission and the inattentive symptoms, but not the hyperactive/impulsive symptoms, of ADHD.

TDT

inattentive


Input: Our results indicate an upregulation of ADM gene expression in human placenta and leukocytes in clinically relevant hypoxic-ischemic birth complications and suggest ADM gene expression as a promising marker for severe complications due to perinatal asphyxia such as HIE.

ADM gene

hypoxic


Input: The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, and rs734312 in WFS1 gene were associated to the male completed suicide.

HTT gene

suicide


Input: In rare cases, gene-trap homozygotes survive to postnatal stages and phenocopy both JATD and SRP type III by exhibiting growth retardation, shortening of the long bones, constriction of the ribcage and polydactyly.

SRP

growth retardation


Input: Through genome-wide linkage analysis combined with whole exome sequencing, we demonstrate that human autosomal recessive primary microcephaly is caused by a truncating mutation in MAP11.

autosomal recessive primary microcephaly

autosomal recessive primary microcephaly


Input: Nod2-/-, β-actin-hPepT1 transgenic/Nod2-/-, and villin-hPepT1 transgenic/Nod2-/-littermates had similar levels of susceptibility to DSS-induced colitis, indicating that hPepT1 overexpression increased intestinal inflammation in a NOD2-dependent manner.

β-actin

inflammation


Input: Mice lacking IFNAR expression on CD11c (+) dendritic cells and LysM (+) macrophages succumbed completely to DENV infection, while mice deficient in the receptor on either CD11c (+) or LysM (+) cells were susceptible to infection but often resolved viremia and recovered fully from infection.

viremia


Input: Our results demonstrate that somatic SDHD mutations are rare in sporadic NET.

NET

sporadic


Input: The enamelin gene (ENAM), has been mapped to chromosome 4q21, to the same region as AIH2, and was recently shown to be mutated in patients with smooth and thin hypoplastic autosomal dominant AI (ADAI).

enamelin

enamelin


Input: Interleukin-1 receptor antagonist ameliorates neonatal lipopolysaccharide-induced long-lasting hyperalgesia in the adult rats.

Interleukin-1 receptor antagonist

hyperalgesia

Interleukin-1 receptor antagonist

hyperalgesia


Input: Analogous experiments with the KCNN3 p. Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels.

ZLS

ZLS


Input: Significantly more patients with low MVD (less than 60) had carcinoma with hyperplasia than those with carcinoma without hyperplasia (P = 0. 0053).

MVD

hyperplasia


Input: Alternatively, other as yet unknown imprinted gene (s) adjacent to IMPACT could contribute to the BPAD trait, since multiple imprinted genes may occasionally form clusters.

IMPACT

BPAD

IMPACT

BPAD


Input: This study investigated the role of Nrf2 in mediating PHB-induced protection against colitis and expression of the antioxidant response element (ARE)-regulated antioxidant genes heme oxygenase-1 (HO-1) and NAD (P) H quinone oxidoreductase-1 (NQO-1).

quinone oxidoreductase

colitis


Input: In conclusion, miR-221 is important in tumorigenesis of HCC, possibly by specifically down-regulating p27 (Kip1), a cell-cycle inhibitor.

tumorigenesis


Input: In two of the genes--the tyrosine kinase 2 (TYK2) and IFN regulatory factor 5 (IRF5) genes--we identified SNPs that displayed strong signals in joint analysis of linkage and association (unadjusted P & lt; 10 (-7)) with SLE.

SLE

SLE


Input: TFR expression of the aneuploid tumors was significantly higher than that of the euploid tumors in all subpopulations.

TFR

aneuploid


Input: IL-1β (-31), IL-6 (-174,-572,-597), and IL-12B (3' + 1158) genotypes were analyzed with pyrosequencing and analyzed using a regression model for susceptibility (sterile, microbial keratitis, controls) and severity.

sterile


Input: A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.

spermine synthase

Snyder-Robinson syndrome

spermine synthase

Snyder-Robinson syndrome


Input: These data suggest ASK1 may be involved in the mechanism of seizure-induced neuronal death downstream of a TNFR1 death-signalling complex.

seizure


Input: In women, the observed changes in HSL and LPL gene expression suggest that deposition of lipids into adipose tissue might be favored after weight reduction.

LPL gene

weight reduction


Input: TMS1 expression was reduced in four HCC cell lines and correlated with methylation status.

HCC

HCC


Input: The data indicate a dual role of Lhx2 during EMT and tumor progression: by inducing the expression of PDGF-B, Lhx2 provokes an autocrine PDGF-B/PDGFRβ loop required for cell migration, invasion and metastatic dissemination and paracrine PDGF-B/PDGFRβ signaling to support blood vessel functionality and, thus, primary tumor growth.

EMT

tumor progression


Input: Using the phosphatidylinositol 3-kinase (PI 3-kinase) inhibitor LY 294002, we show that this VEGF hypoxia-inducible pathway regulated by HIF-1 alpha is distinct from a PI 3-kinase-dependent pathway, which regulates basal amounts of VEGF, but does not affect inducibility.

VEGF

hypoxia


Input: Interestingly, constitutive expression of the human epo gene affected the morphologies in transgenic plants such that vegetative growth of transgenic tobacco was retarded, and male sterility was induced in transgenic tobacco and Arabidopsis.

epo gene

male sterility


Input: In this review, we will discuss the dual role of TNF in pulmonary edema.

TNF

pulmonary edema

TNF

pulmonary edema


Input: As to the second aim, the possible association of cathepsin B along with selected molecular markers, cathepsin L, and endogenous cysteine protease inhibitors (stefins A and B and cystatin C) with meningioma malignancy was determined using enzyme-linked immunosorbent assays in tumor homogenates.

cystatin C

meningioma

cystatin C

meningioma


Input: These data suggest that IL-21 polymorphism is associated with increased susceptibility to ischemic stroke possibly by upregulating gene expression.

ischemic stroke


Input: We first demonstrated mRNA expression of GHR and of its exon 9-truncated isoform (GHR (tr)) in benign prostate hyperplasia (BPH) and prostate adenocarcinoma patient tissues, as well as in LNCaP, PC3 and DU145 human prostate cancer cell lines.

prostate adenocarcinoma


Input: Cerebral MRI showed agenesis of the optic nerves, optic tracts, and optic chiasma.

MRI

agenesis


Input: Our findings propose a new role for AVP in cocaine addiction.

AVP

cocaine addiction

AVP

cocaine addiction


Input: In this study, a plasmid expressing vascular endothelial growth factor (VEGF) was constructed with an oxygen dependent degradation (ODD) domain and a secretion signal peptide (SP) in order to stabilize the VEGF protein and facilitate the secretion of VEGF protein, specifically under hypoxic conditions.

VEGF

hypoxic


Input: Forced suppression of GPX2 expression by siRNA resulted in significant growth inhibition in both rat and human mammary carcinoma cell lines with wild-type p53 cells.

human mammary carcinoma

human mammary carcinoma


Input: Tumor and normal tissue DNA samples were obtained from 40 patients with early-onset (< 50 y) gastric carcinomas and assayed for APC and CTNNB1 mutations, microsatellite instability, and methylation of the promoters of the hMLH1, TIMP3, THBS1, DAP-K, GSTP1, APC, and MINT2.

microsatellite instability


Input: At P17, retinal flatmounts were stained with isolectin and quantified with a standard protocol to measure vasoobliteration and pathologic neovascularization.

pathologic neovascularization


Input: Rubinstein-Taybi syndrome (RTS, MIM 180849) is a multiple malformation syndrome characterized by growth retardation, developmental delay, and dysmorphic features, including down-slanting palpebral fissures, a beaked nose, broad thumbs, and halluces.

MIM

dysmorphic features


Input: A 58-year-old white woman with mild progressive gait disturbance of 15 years' duration whose examination revealed mild incoordination was analyzed for mutations in the X25 gene.

incoordination


Input: Recently we have demonstrated that one family member, Ckidelta, colocalizes with tau containing neurofibrillary tangles (NFTs) and other tau deposits in a number of neurodegenerative diseases.

Ckidelta

neurofibrillary tangles


Input: Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91 +) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.

X-linked chronic granulomatous disease

X-linked chronic granulomatous disease


Input: Primary cultures of highly purified thyrocytes and thyroid-derived fibroblasts (n = 3) and three thyroid anaplastic and one largely papillary carcinoma cell lines were exposed to different potent GM-CSF stimulators, employing interleukin 1 alpha (Il-1 alpha) and tumour necrosis factor-alpha (TNF-alpha).

interleukin 1 alpha

papillary carcinoma


Input: Meta-analysis of case-control genome-wide association studies (GWAS) for early onset and morbid obesity identified four variants in/near the PRL, PTER, MAF and NPC1 genes.

MAF

morbid obesity


Input: Our data provide new insights into the mechanisms of tumoral L1CAM induction and how PMFs contribute to malignant transformation of pancreatic duct cells early in PDAC tumorigenesis.

tumorigenesis


Input: In 18 of 19 samples studied, the rearranged bcl-2 fragment also hybridized with a probe for the joining region of the immunoglobulin heavy chain gene located on chromosome 14, indicating a 14; 18 translocation.

translocation


Input: The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2).

APOH

schizophrenia

APOH

schizophrenia


Input: Ablation of cereblon attenuates myocardial ischemia-reperfusion injury.

cereblon

myocardial ischemia


Input: To investigate whether LL-37 and human beta defensin-2 (hBD-2) is related to the patients with psoriasis seldom having skin infections and explore the role of the two peptides and CCR6 (the receptor of hBD-2) in the pathogenesis of psoriasis, the expression levels of mRNA of LL-37, hBD-2, and CCR6 in skin lesions of patients with psoriasis vulgaris were detected by using RT-PCR.

skin infections


Input: A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion.

BCOR

bone sarcoma

BCOR

bone sarcoma


Input: Real-time PCR and Western blot analysis were performed to detect Notch-1, Notch-2, Notch-3 and Notch-4 receptor expression in breast cancer cells when PEA3 was knocked down by siRNA.

breast cancer

breast cancer


Input: Forced expression of HIF-1alpha in p53-expressing tumor cells increases hypoxia-induced VEGF expression and augments neovascularization and growth of tumor xenografts.

VEGF

hypoxia


Input: Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.

nonbullous congenital ichthyosiform erythroderma

nonbullous congenital ichthyosiform erythroderma


Input: The decreased expressions of BAIs in high-grade gliomas were observed, but BAI3 expression was generally lower in malignant gliomas than in normal brain.

gliomas


Input: Following sequencing of the p53 gene in U87 and U373 glioma cell lines, p53 was found to be reactive in the p53 wild-type line U87 in response to hypoxia but not in the p53 mutant line, U373.

glioma


Input: These observations define what we believe to be a new role for DBC1 as an in vivo regulator of SIRT1 activity and liver steatosis.

liver steatosis


Input: Both the index patient (BMI 42. 06 kg/m2, height 171 cm, age 19. 6 years) and her mother (BMI 37. 55 kg/m2, height 164 cm, age 42. 5 years) were heterozygous for the deletion. b) A nonsense mutation at position 35 of the MC4-R was detected in two obese probands (BMI 31. 29 kg/m2 and BMI 45. 91 kg/m2).

obese

obese


Input: The odds of dementia was two-fold higher among those with ACE II genotype, and ranged from 2. 18 to 4. 35 among those with dementia onset < or = 70 years, an APOEepsilon4 allele, systolic blood pressure < 160 mmHg, body mass index < 25 kg/m (2), and in women only, waist circumference < or = 88 cm and hip circumference < 101 cm.

ACE

waist circumference


Input: As many neurodegenerative conditions have similar clinical features we screened a number of adult and childhood onset movement disorders for PANK2 mutation.

childhood onset


Input: In samples from seven patients two distinct t (14; 18) translocations were shown to be present simultaneously; in one case the second translocation involved the minor cluster region of the BCL2 gene.

BCL2 gene

translocation


Input: These data indicate that factor IXa generation in vivo results mainly from the activity of the tissue factor mechanism rather than the contact system (factor XII, prekallikrein, high molecular-weight kininogen, factor XI).

prekallikrein

weight


Input: Using a cohort of over 700 AAV patients, two SLE case-control studies and an SLE trio collection (totalling over 1000 SLE patients), and a TaqMan genotyping approach, we tested 3 SNPs in the IL2RA locus, rs11594656, rs2104286 & rs41295061, each with a prior association with autoimmune disease; rs11594656 and rs41295061 with type 1 diabetes (T1D) and rs2104286 with multiple sclerosis (MS) and T1D.

AAV

multiple sclerosis


Input: Expression of MUC1, MUC2, MUC3 and MUC4 mucin mRNAs in human pancreatic and intestinal tumor cell lines.

intestinal tumor


Input: We tested for association of NTRK2 with COMD in two independent samples: (a) a case-control sample matched on ethnicity and gender, consisting of 120 cases who met DSM III/IV criteria for major depressive or dysthymic disorder before age 14 or bipolar I/II before the age of 18, and controls, and (b) a family based control sample of 113 families collected in Hungary, identified by a proband between the age of 7 and 14 who met DSM IV criteria for major depressive disorder or bipolar I/II disorder.

dysthymic disorder

dysthymic disorder


Input: Epiregulin (EPI) and amphiregulin (AR) are epidermal growth factor receptor (EGFR) ligands implicated in mucosal repair and tumorigenesis.

Epiregulin

tumorigenesis


Input: Quantitative real-time reverse transcription-PCR for Selenoprotein-P demonstrated a similar down-regulation of the transcript of this gene in a subset of human prostate tumors, mouse tumors, and prostate carcinoma cell lines.

Selenoprotein-P

prostate tumors

Selenoprotein-P

prostate tumors


Input: Murine MMP9 expression was induced in the circulation shortly after WNV infection, and the protein levels remained high even when viremia subsided.

viremia


Input: To describe a family with 13 members in four generations affected by early-onset isolated painful arthritis limited to the first metatarsophalangeal (MTP) joint but without evidence of generalized joint disease at follow-up.

MTP

joint disease


Input: This increased sensitivity correlated with increased expression of the gene encoding the ubiquitin hydrolase/ligase ubiquitin carboxyterminal esterase L1 (UCH-L1) and with increased degradation of the PPARgamma heterodimerization partner retinoid X receptor alpha (RXRalpha), but not RXRbeta, in visceral WAT from obese humans and mice.

retinoid X receptor alpha

obese


Input: Inhibiting PTEN may serve as a potential approach to exert cardiac protection against ischemia reperfusion injury.

PTEN

ischemia reperfusion injury

PTEN

ischemia reperfusion injury


Input: JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.

hypereosinophilic syndrome

hypereosinophilic syndrome


Input: Activation of adenosine A3 receptor alleviates TNF-α-induced inflammation through inhibition of the NF-κB signaling pathway in human colonic epithelial cells.

adenosine A3 receptor

inflammation


Input: Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

VHL

von Hippel-Lindau disease

VHL

von Hippel-Lindau disease


Input: Compared with GC with MSI-L or MSS, GC with MSI-H had a significantly higher frequency of antral location, intestinal subtype, H. pylori seropositivity, but a lower incidence of lymph node metastasis, and displayed a higher frequency of frameshift mutations of TGFbetaRII, IGFIIR, BAX, MSH3, and E2F4 genes but a lower incidence of TP53 mutations.

lymph node metastasis


Input: Interestingly, neither a deletion nor a mutation was detected in the other allele, and wild-type mRNA sequence was expressed in the tumor, suggesting that the MEN1 gene was not inactivated by a conventional two-hit mechanism.

MEN1 gene

hit


Input: The present cases are the first Japanese patients with TSH resistance in whom mutations in the TSH receptor gene have been identified.

TSH receptor

TSH resistance

TSH receptor

TSH resistance


Input: Regulation of EMT by Notch signaling pathway in tumor progression.

EMT

tumor progression


Input: One SNP (rs4499545) in the ROPN1-KALRN intergenic region and two SNPs in KALRN (rs17286604 and rs11712619) showed significant (P < 0. 05) allelic and genotypic (unadjusted and adjusted for hypertension, diabetes, and ever smoking) association with IS risk.

KALRN

diabetes


Input: Forty-nine out of 70 genes from this model, such as CSF2RB, NFKBIE, ENDOG, CASP10 and CASP3, were differentially expressed (corrected p-value < 0. 05) in periodontitis samples when compared to those of healthy controls.

NFKBIE

periodontitis


Input: The current findings confirm the genetic association of defective Cd36 with disordered insulin action and fatty acid metabolism in the SHR/NIH strain and suggest that Cd36 is linked to other gene (s) on rat chromosome 4 that regulate blood pressure.

blood pressure


Input: Furthermore, overexpression of Sirt3 increased the bax/bcl-2 and bad/bcl-x/L ratios, and promoted AIF translocation to the nucleus.

translocation


Input: The effect of ARB-associated mutations of BEST1 on the cellular localization was determined by in vitro experiments.

ARB

ARB


Input: Bcl2 translocation and Bcl6 translocation were detected and compared using fluorescence in situ hybridization (FISH).

translocation


Input: Interestingly, female offspring of SUPP and DEF fathers had a significantly lower body weight than those of CTRL fed fathers.

CTRL

body weight


Input: Role of adiponectin and inflammation in insulin resistance of Mc3r and Mc4r knockout mice.

inflammation


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

translocation


Input: The most significant predictors for pathogenic or unclassified variant changes in BRCA1 in ovarian cancer patients were a younger age of onset and a history of hyperthyroidism and infertility.

infertility


Input: The 5-HT (2B) receptor antagonist SB 204741 partially reversed cardiac hypertrophy induced by NE overload (P & lt; 0. 05) and decreased L-type calcium currents in ventricular cardiomyocytes (P & lt; 0. 05).

5-HT (2B) receptor

cardiac hypertrophy

5-HT (2B) receptor

cardiac hypertrophy


Input: A CD133 (+)-enriched U87 glioma cell population, isolated from parental U87 cells with magnetic cell sorting technology, also grew as neurospheres and showed enhanced COX-2 expression.

glioma


Input: FHH should be clearly differentiated by PHPT to avoid unnecessary surgery: CCCR could be a useful screening tool while genetic analysis should include the two novel CaSR mutations herein described.

CaSR

FHH

CaSR

FHH


Input: APOE epsilon4 is not a susceptibility gene in idiopathic or diabetic sensory neuropathy.

APOE

sensory neuropathy


Input: Decreased immunostaining for the winged helix transcription factor FOXA2 was associated with goblet cell hyperplasia in IL-1beta-expressing mice.

hyperplasia


Input: The levels of the free mutant TTR increased with the orifice corn voltage at 90 V. In contrast, increase in orifice voltage from 60 to 90 V produced a reduction in the level of normal TTR.

TTR

corn


Input: Effects of MUC20 on cell viability, adhesion, migration, and invasion were analyzed in MUC20 overexpressing or knockdown EOC cells.

adhesion


Input: beta-mannosidase, encoded by MANBA, has been suggested to be implicated in cancers, while genetic variations in the MANBA in relation to colorectal cancer (CRC) risk has not been examined.

MANBA

cancers


Input: TRPV1 mRNA was identified by quantitative RT-PCR in U373, U87, FC1 and FLS glioma cells, with U373 cells showing higher, and U87, FC1 and FLS cells lower TRPV1 expression as compared with normal human astrocytes.

glioma


Input: Knockdown of FXR expression in esophageal cancer cells in vitro and in nude mice xenografts was suppressed by FXR small hairpin RNA (shRNA) and guggulsterone (a natural FXR inhibitor).

FXR

esophageal cancer


Input: The frequency of TNF-alpha/-857T and optineurin/412A carriers was significantly higher (P = 0. 006) in patients with POAG than in control subjects.

optineurin

POAG

optineurin

POAG


Input: These findings suggest a role for KNSTRN mutagenesis in SCC development.

KNSTRN

SCC

KNSTRN

SCC


Input: The mutation in HPRTFlint disrupts a strongly conserved region among PRTases from Escherichia coli, rodents and man, suggesting an important role for this region for the normal function of HPRT.

HPRT

HPRTFlint

HPRT

HPRTFlint


Input: Taken together, these results demonstrate an unexpected role for ASC in Sonic hedgehog-driven medulloblastoma tumorigenesis, thus identifying ASC as a promising novel target for antitumor therapy.

Sonic hedgehog

tumorigenesis


Input: Expression of C5aR, inflammatory cytokines and adhesion molecules were analyzed by real-time RT-PCR.

adhesion


Input: Renal interstitial fibrosis (RIF) is the common pathological process of chronic kidney diseases leading inevitably to renal function deterioration.

RIF

chronic kidney diseases


Input: Twenty-five PTCs (11 with BRAF (V600E), 4 with RET/PTC1, and 10 without mutation in HRAS, KRAS, NRAS, BRAF, RET/PTC1, or RET/PTC3) were analyzed using Genome-Wide Human SNP Array 6. 0 which allows us to detect copy number alteration (CNA) and uniparental disomy (UPD), also referred to as copy neutral loss of heterozygosity, in a single experiment.

HRAS

uniparental disomy


Input: Our findings indicate that GNPAT, SUMO1, SPINT2, FLI1, and SSX1 play critical roles in synergy with inflammation pathways in modulating melanoma cell survival and could serve as sensitizing targets to enhance CDDO-Me efficacy in melanoma growth control.

melanoma


Input: This study provides a reference for elucidating the complex miRNA-mediated regulatory networks of PRL/PRLR signaling pathway that affect breast cancer tumorigenesis and progression.

PRLR

tumorigenesis


Input: Altogether, these results suggest that SKP2 and the ubiquitin-proteasome pathway may be a potential target for therapeutic intervention in DLBCL.

DLBCL

DLBCL


Input: Expression of PAX8 in nephrogenic adenoma and clear cell adenocarcinoma of the lower urinary tract: evidence of related histogenesis?

clear cell adenocarcinoma


Input: In one MCD II family, a homozygous deletion in the upstream region of CHST6 gene was found.

MCD

MCD


Input: One hundred sixty-one suitable patients were identified and tested for the bcl-2 MBR translocation, with 27 (17%) found to be positive; 153 of these patients were tested with immunocytochemistry, and 84 (55%) showed evidence of Bcl-2 expression.

translocation


Input: Intranasal " painless " human Nerve Growth Factor [corrected] slows amyloid neurodegeneration and prevents memory deficits in App X PS1 mice.

Nerve Growth Factor

neurodegeneration

Nerve Growth Factor

neurodegeneration


Input: Hb Johnstown [beta 109 (G11) Val--> Leu]: second case described and associated for the first time with beta (0)-thalassemia in two Spanish families.

thalassemia


Input: Both inhibitors, applied just before and during 1-wk hypoxia, equally reduced pulmonary arterial pressure (PAP) measured under ketamine + xylazine anesthesia.

PAP

hypoxia


Input: In patients with only coma (n = 15), only delirium (n = 7), and neither ever (n = 14), we measured plasma levels of tumor necrosis factor-& #945;, interleukin (IL)-1 & #946;, IL-1RA, IL-6, IL-8, IL-10, IL-17, macrophage inflammatory protein-1 & #946;, and monocyte chemotactic protein-1.

delirium

delirium


Input: There is a greater relationship between merosin and the former proteins; among MP-CMD patients, no remarkable immunohistochemical/phenotypical correlations were found, although the reduced expression of beta-DG had showed statistically significant correlation with severe phenotype and marked fibrosis on muscular biopsy.

merosin

fibrosis


Input: TGFBIp increased both CCL21 expression in LECs, a chemokine that actively recruits tumor cells expressing the cognate chemokine receptors to lymphatic vessels and LEC permeability by inducing the dissociation of VE-cadherin junctions between LECs via the activation of SRC signaling.

dissociation


Input: The AML1/EVI-1 chimeric gene is generated by the t (3; 21) (q26; q22) translocation and plays a pivotal role in progression of hematopoietic stem cell malignancies such as chronic myelocytic leukemia and myelodysplastic syndrome.

translocation


Input: We propose that the expression of selected RNA-based HIV-1 inhibitors in the CD4 + cells derived from GM-HSPC will protect them from HIV-1 infection and results in a sufficient immune repertoire to control HIV-1 viremia resulting in a functional cure for HIV-1/AIDS.

HSPC

viremia


Input: Gene expression signatures were used as surrogates for the expression versus loss of the translocation in AML1-ETO-expressing cells.

translocation


Input: In sera from 35 persons with autism, among cytokines, only tumor necrosis factor receptor II was elevated compared with controls (P & lt; 0. 02).

tumor necrosis factor receptor II

autism

tumor necrosis factor receptor II

autism


Input: Our results demonstrate that mutations in ATP2A2 cause DD and disclose a role for this pump in a Ca (2 +)-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis.

DD

DD


Input: We have analysed the gene encoding the kidney isozyme of 11 beta HSD and found mutations on both alleles in nine of 11 AME patients (eight of nine kindreds).

11 beta HSD

AME

11 beta HSD

AME


Input: We determined the expression levels of mRNAs for haematopoietic PGD synthase (H-PGDS) and lipocalin-type PGDS (L-PGDS), MIP-1 alpha, IFN-gamma, IL-4, and CDX2 in H. pylori-induced gastritis mucosa by quantitative RT-PCR.

IFN

gastritis


Input: These data support a positive contribution of MKK7/JNK to oxaliplatin cytotoxicity and identify SEK1 as a potential target for reversal of hypoxic resistance to oxaliplatin.

hypoxic


Input: The translocation t (8; 21) (q22; q22), which results in the fusion of the AML1 (RUNX1) and ETO (CBFA2T1) genes, is a recurrent aberration in acute myeloid leukemia (AML), preferentially correlated with FAB M2, and has the highest incidence in childhood AML.

translocation


Input: We have now analysed the p53 gene in a family affected by Li-Fraumeni syndrome, a rare autosomal dominant syndrome characterized by the occurrence of diverse mesenchymal and epithelial neoplasms at multiple sites.

Li-Fraumeni syndrome

Li-Fraumeni syndrome


Input: Specimens of the primary carcinoma were available for analysis of hormone receptor, Ki67 labelling index, epidermal growth factor receptor (EGFR), c-erbB-2, p53 and ras p21.

primary carcinoma


Input: We conclude that structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia.

RAR

schizophrenia

RAR

schizophrenia


Input: To evaluate whether somatic mutations of LKB1 contribute to the tumorigenesis of yet unstudied tumor types, we screened 14 cell lines and 129 tumor specimens from different cancers for a genetic defect in LKB1.

tumorigenesis


Input: We also describe an original mouse model of invasive keratoacanthoma driven by skin-specific expression of the truncated Zmiz1 transcript.

keratoacanthoma


Input: Altogether, our data show that in leukemic cells adhesion to fibronectin increases CDC25A expression through proteasome-and Chk1-dependent mechanisms, resulting in enhanced proliferation.

adhesion


Input: Treatment of minimal residual disease after surgery or chemotherapy in mice carrying HPV16-associated tumours: Cytokine and gene therapy with IL-2 and GM-CSF.

minimal residual disease

minimal residual disease


Input: Coexpression of CCK2R and phospho-FAK associated with invasion and lymph node metastasis.

FAK

lymph node metastasis


Input: PI-3K generates phosphatidylinositol-3, 4, 5-trisphosphate (PIP (3)), a lipid second messenger essential for the translocation of PKB/Akt to the plasma membrane where it is phosphorylated and activated by phosphoinositide-dependent kinase-1 (PDK-1) and possibly other kinases.

PKB

translocation


Input: Specialized cancer-associated fibroblasts (CAFs) in the ECM influence tumorigenesis.

ECM

tumorigenesis


Input: We now report a Cx26 mutation in three families with mutilating keratoderma and deafness [Vohwinkel' s syndrome (VS; MIM 124500), as originally described].

MIM

mutilating keratoderma


Input: Moreover, TrkC significantly inhibits apoptosis via induction of the expression of PLK-1 and Twist-1 through activation of AKT/mTor pathway; therefore, it plays a key role in leukemogenesis.

TrkC

leukemogenesis


Input: To compare the wild-type (Pro/Pro) carriers in diabetics from each ethnic group, Ugyur subjects, who carry PPAR-g Pro12Ala (Pro/Ala), had a larger waist circumference and lower low-density lipoprotein-cholesterol level, Kazaks subjects showed larger waist circumference and higher high-density lipoprotein levels and Han subjects exhibited a high waist-to-hip ratio and body mass index.

PPAR

waist circumference


Input: The proportion of breast carcinomas that were MMR-deficient based on absent MMR protein, presence of microsatellite instability, or both was significantly (P = 0. 00016) higher among breast carcinomas from mutation carriers (13/20, 65%) compared to non-carriers (0/14, 0%).

MMR

microsatellite instability


Input: Recently, astrocyte-elevated gene-1 (AEG-1) and insulin-like growth factor 1 (IGF-1) have been involved in the regulation of multiple signaling pathways in tumorigenesis.

tumorigenesis


Input: SMRT-GPS2 corepressor pathway dysregulation coincides with obesity-linked adipocyte inflammation.

inflammation


Input: We have tested the hypothesis that the angiotensin-converting enzyme (ACE) DD genotype and the angiotensin II type I receptor (AT1R) gene C allele represent the common link between microalbuminuria and coronary heart disease.

ACE

microalbuminuria


Input: Our results suggest that troglitazone may exert beneficial effects on insulin resistance by increasing the expression of GLUT4 in adipose tissue.

insulin resistance

insulin resistance


Input: In addition to regulating tumorigenesis through modulation of the phosphoproteome, Rho kinase signaling also contributes to the regulation of the tumor transcriptome.

Rho kinase

tumorigenesis


Input: Cultured monkey RPE cells were exposed to low oxygen and chemical hypoxia mimetics.

RPE

hypoxia


Input: The aim of our study was to determine ACT signal peptide polymorphism (A/T) as a possible risk factor for post-stroke dementia (PSD).

PSD

stroke


Input: As IL-21 regulates IgE production, a key mediator of various allergic disorders and asthma, it is a prime candidate gene for studying atopic asthma.

atopic asthma


Input: Knockdown of MFF attenuated hydrogen peroxide-and I/R injury-induced cardiomyocyte apoptosis and myocardial infarction.

MFF

myocardial infarction

MFF

myocardial infarction


Input: Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.

sporadic


Input: It was suggested that aberrant inhibitor of growth 5 expression may contribute to pathogenesis, growth, and invasion of colorectal carcinomas and could be considered as a promising marker to gauge aggressiveness of colorectal carcinomas.

inhibitor of growth 5

aggressiveness


Input: Mutations in the gene coding for fused in sarcoma/translocated in liposarcoma (FUS) are responsible for some cases of both familial and sporadic forms of ALS.

FUS

sporadic


Input: 133 isolates (86. 9%) were resistant to both RIF and Isoniazid and 4 isolates (2. 6%) were RIF mono-resistant in MGIT SIRE liquid culture-based DST.

DST

mono


Input: The molecular basis of mitochondrial acetoacetyl-CoA thiolase (T2) deficiency was studied in two patients (GK11 and GK16).

mitochondrial acetoacetyl-CoA thiolase

T2) deficiency

mitochondrial acetoacetyl-CoA thiolase

T2) deficiency


Input: XLDCM is a rapidly progressive, almost exclusively myocardial disorder, starting in teenage males as heart failure due to dilative cardiomyopathy (CMP), leading to death from intractable heart failure within 1-2 years after diagnosis.

CMP

myocardial disorder


Input: A search for thrombophilia in RAO is advisable in patients without evident source of emboli even when vascular risk factors are identified.

RAO

thrombophilia


Input: We concluded that differential expression of miR-93/106b and their direct and/or indirect regulatory functions on F3, IL8, CTGF, and PAI-1 expression, with key roles in inflammation and tissue turnover may be of significance in the outcome of leiomyoma growth and associated symptoms.

CTGF

inflammation


Input: ERβ-dependent neuroglobin up-regulation impairs 17β-estradiol-induced apoptosis in DLD-1 colon cancer cells upon oxidative stress injury.

neuroglobin

colon cancer


Input: As the K320 p53 acetylation is the site predominantly affected in hypoxia, the PCAF histone acetyltransferase activity is the key regulator of the cellular fate modulated by p53 under these conditions.

PCAF

hypoxia


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

melanoma metastatic


Input: We analyzed the invasive activities of cervical carcinoma cell lines (CAC-1, CaSki, and SiHa) and the gene expression of various matrix proteinases (matrix metalloproteinase-1 [MMP-1], MMP-2, MMP-9, membrane-type MMP type 1 [MT1-MMP], MT2-MMP, and MT3-MMP) and their inhibitors (tissue inhibitor of metalloproteinase type 1 [TIMP-1] and TIMP-2).

cervical carcinoma


Input: This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans.

SOBP

psychosis

SOBP

psychosis


Input: A novel mutation in KLHL3 gene causes familial hyperkalemic hypertension.

familial hyperkalemic hypertension

familial hyperkalemic hypertension


Input: No associations between non-synonymous NLRP7 variants and primary recurrent miscarriage or partial hydatidiform molar pregnancies were detected.

recurrent miscarriage


Input: The NCC inhibitor chlorothiazide abrogates FGF23-induced volume expansion and heart hypertrophy.

heart hypertrophy


Input: Small interfering RNA knockdown of TRPV4 in mouse primary afferent neurons inhibited the hypersensitivity caused by supernatants from IBS biopsies.

hypersensitivity


Input: We analyzed the complete cag-PAI of 174 representative Helicobacter pylori (H pylori) clinical isolates obtained from patients with duodenal ulcer, gastric ulcer, gastric cancer, and non-ulcer dyspepsia using eight different oligonucleotide primers viz cagA1, cagA2, cagAP1, cagAP2, cagE, cagT, LEC-1, LEC-2 spanning five different loci of the whole cag-PAI by polymerase chain reaction (PCR).

LEC

gastric ulcer


Input: Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.

craniofacial-deafness-hand syndrome

craniofacial-deafness-hand syndrome


Input: A renal biopsy sample showed marked glomerular enlargement, collapse of glomerular capillaries, mesangial matrix expansion, and tubulointerstitial change, demonstrating typical histologic features of RCS.

RCS

enlargement


Input: The upregulation of several of these genes, IFITM1, IFITM2, IFITM3, APOL1 (Apolipoprotein L1), ADORA2A (adenosine receptor 2A), IGFBP4 and CD163 were validated in the schizophrenia subjects using data from the SNCID database and with quantitative RT-PCR.

schizophrenia

schizophrenia


Input: Kaplan-Meier and Cox regression models demonstrated that patients with low-miR-218 tumors or high-PXN tumors exhibited shorter overall survival (OS) and relapse-free survival (RFS) than those with high-miR-218 tumors or low-PXN tumors.

PXN

regression


Input: Overexpressing BCL-XL mesothelioma clones were created by plasmid transfer.

BCL-XL

mesothelioma


Input: Northern blot and immunohistochemical analyses of MX-1 tumor transplants showed that VEGF mRNA and VEGF protein levels were increased in mice 17 h after the induction of inspiratory hypoxia.

VEGF

hypoxia


Input: Adult brain tissues from NPAS3-and NPAS1/NPAS3-deficient mice exhibited a distinct reduction in reelin, a large, secreted protein whose expression has been reported to be attenuated in the postmortem brain tissue of patients with schizophrenia.

schizophrenia

schizophrenia


Input: Despite a modest in vitro effect, Bcl-2 ASO alone caused the regression of established xenograft tumors in mice, extending survival by 15 days in a C666-1 and by 6 days in a C15 model.

regression


Input: By means of a comparative genetic strategy within the human homologous region, we describe an association for TLL2 with bipolar disorder using the genome-wide association study (GWAS) data set generated by the Wellcome Trust Case Control Consortium (WTCCC).

bipolar disorder

bipolar disorder


Input: NMNAT1 mutations cause Leber congenital amaurosis.

Leber congenital amaurosis

Leber congenital amaurosis


Input: Evidence supporting the presence of the DNAJB1-PRKACA chimeric transcript in 100% of the FL-HCCs examined (15/15) suggests that this genetic alteration contributes to tumor pathogenesis.

FL-HCC

FL-HCC


Input: To clarify individual differences in susceptibility to gallbladder carcinogenesis, we investigated the frequency of the Mspl and Ile-Val polymorphisms of the CYP1A1 gene, in 52 patients with gallbladder cancer (32 females, 20 males) and 104 healthy controls (64 females, 40 males).

Mspl

carcinogenesis


Input: Clonal cytogenetic abnormalities other than Ph were present in 13 patients and did not predict for lack of response to IFN.

IFN

cytogenetic abnormalities


Input: Taken together, our results suggest that eIF3i is induced by HIF1A under hypoxia and controls normal and tumorigenic angiogenesis through regulating VEGFA protein translation.

VEGFA

hypoxia


Input: However, data from an animal model of HIV neurologic disorders may not be consistent with robust miRNA-mediated regulation of SAMHD1 in vivo.

neurologic disorders


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: HIF-1alpha protein and VEGF mRNA decreased when chondrosarcoma cells were transfected with siRNA targeting HIF-1alpha prior to hypoxia exposure, suggesting that HIF-1alpha expression resulted in increased VEGF expression.

VEGF

hypoxia


Input: Furthermore, we demonstrate that TOP2B influences the separation between RUNX1 and two translocation partners (RUNX1T1 and EVI) in the nucleus of lymphoid cells.

translocation


Input: To delineate the mechanisms that facilitate leukocyte migration into the cystic fibrosis (CF) lung, expression of chemokines, including interleukin-8 (IL-8), monocyte chemoattractant protein-1 (MCP-1), and RANTES, was compared between CF and non-CF airway epithelia.

cystic fibrosis


Input: To examine the role of FKBP5-trauma interactions in the partly stress-related psychosis phenotype.

psychosis

psychosis


Input: We identified bi-allelic deleterious mutations in MEI1, TOP6BL/C11orf80, and REC114, with roles in meiotic double-strand breaks formation in women with recurrent androgenetic complete hydatidiform moles.

complete hydatidiform moles

complete hydatidiform moles


Input: Our data thus indicate that mutations in the CSF3R gene can be responsible for hereditary neutrophilia mimicking a myeloproliferative disorder.

hereditary neutrophilia

hereditary neutrophilia


Input: EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.

EDNRB

Waardenburg syndrome type II

EDNRB

Waardenburg syndrome type II


Input: The macrophage migration inhibitory factor (MIF) is a pro-inflammatory cytokine that plays an important role in the pathogenesis of immune diseases.

MIF

immune diseases


Input: The region on chromosome 3p13-p14 known to contain several chromosomal translocation breakpoints in families with " pure familial renal cell carcinoma " is quite proximal to the VHL locus in 3p25-p26 we have identified.

familial renal cell carcinoma


Input: Comparison of clinico-biological characteristics of patients with and without thrombosis revealed in the former group higher median white blood cell (WBC) count (17 x 10 (9)/l, range 1. 2-56, P = 0. 002), prevalence of the bcr3 transcript type (72 vs 48%, P = 0. 01), of FLT3-ITD (64 vs 28%, P = 0. 02), CD2 (P = 0. 0001) and CD15 (P = 0. 01) expression.

thrombosis

thrombosis


Input: The SDC1 expression profile varies among cancer types, but the differential expression signatures between normal and cancer cells in epithelial and stromal compartments are directly associated with aggressiveness of tumors and patient' s clinical outcome and survival.

aggressiveness


Input: The mRNA of GPAT was increased in islets of obese rats.

GPAT

obese


Input: It is concluded that combined administration of low doses of Sbv plus IFN-gamma may provide a novel therapeutic approach for the treatment of antimony-resistant cutaneous or mucocutaneous leishmaniasis.

IFN

mucocutaneous leishmaniasis


Input: Substantially stable IL-4 release was detected by ELISA in the supernatant of transduced cells, ranging from 1. 6 to 4. 6 ng/ml per 10 (5) cells per 24 hr; such a cytokine displayed a specific biologic activity, as revealed by the stimulation of blast cell proliferation and the inhibition of lymphokine activated killer cell (LAK) induction by IL-2.

LAK

blast cell proliferation


Input: Their male sibling and mother presented a very mild asymptomatic form of CAH, characterized by elevated basal plasma levels of 17-hydroxyprogesterone (17-OHP) and exaggerated responses of progesterone and 17-OHP to ACTH stimulation.

ACTH

asymptomatic


Input: Pathological investigations revealed that medial thickening of the pulmonary arterioles, which is a characteristic of hypoxia-induced PH, was absent in Pyk2-deficient mice, suggesting that Pyk2 is involved in the hypoxia-induced aberrant proliferation of vascular smooth muscle cells in hypoxia-induced PH.

hypoxia


Input: Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

Myosin binding protein C1

distal arthrogryposis type 1

Myosin binding protein C1

distal arthrogryposis type 1


Input: Methylation of the promoter regions of p16 and CDH13 in both tumor and mediastinal lymph nodes was associated with an odds ratio of recurrent cancer of 15. 50 in the original cohort and an odds ratio of 25. 25 when the original cohort was combined with an independent validation cohort of 20 patients with stage I NSCLC.

NSCLC

NSCLC


Input: The differentiation-related gene 1, Drg1, is markedly upregulated by androgens in LNCaP prostatic adenocarcinoma cells.

prostatic adenocarcinoma


Input: We conducted cross-sectional analyses within the Nurses' Health Study (n = 538), to investigate variation in mammographic breast density, by 10 polymorphisms in eight candidate genes (CYP17, CYP19, CYP1A1, CYP1B1, COMT, UGT1A1, AR, and AIB1).

mammographic breast density


Input: The approach of single-strand conformational polymorphism analysis established for all the 20 exons of the RET proto-oncogene, and previously used to screen for point mutations in Hirschsprung patients allowed us to identify seven additional mutations among 39 sporadic and familial cases of Hirschsprung disease (detection rate 18%).

RET proto-oncogene

Hirschsprung disease

RET proto-oncogene

Hirschsprung disease


Input: Because oxidative stress inhibits the LKB1/AMPK signaling axis to promote abnormal cell growth in cancer cells, we investigated whether oxidative stress associated with hypertension also results in the inhibition of this kinase circuit to contribute to left ventricular hypertrophy.

hypertension

hypertension


Input: SCF significantly reduced the induced apoptosis by more than 50% in all CD34 + human leukemia cells treated by any of the three chemotherapeutic drugs.

SCF

leukemia


Input: A potential role of PCP-2 in cell-cell recognition and adhesion is supported by its co-localization with cell adhesion molecules, such as catenin and E-cadherin, at sites of cell-cell contact.

adhesion


Input: None of 20 non-neoplastic cervices showed p16 INK4A and MGMT gene hypermethylation, whereas at least one of these genes was hypermethylated with 50. 0% (5/10) of CIN I, 65. 0% (13/20) of CIN II-III, 70. 2% (33/47) of SCC and 85. 0% (17/20) of adenocarcinoma.

MGMT gene

non-neoplastic


Input: Recent studies have suggested that one or more of the neuroblastoma tumor suppressor genes reside in this region and have identified the shortest region of overlap (SRO) on 1p36.

SRO

neuroblastoma


Input: Differential expression of pentraxin 3 in fibroblasts from patients with major depression.

pentraxin 3

major depression

pentraxin 3

major depression


Input: Over-expression of Trim16 by plasmid injection increased pulmonary fibrosis, and bronchoalveolar lavage levels of both interleukin 12/23-p40 and neutrophils, in bleomycin treated B6. C3H-Blmpf2 subcongenic mice compared to subcongenic mice treated with bleomycin only, which follows the C57BL/6J versus C3H/HeJ strain difference in these traits.

pulmonary fibrosis


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

medullary thyroid carcinoma


Input: We report here a 14 bp deletion in the paired domain encoded by exon 2 of HuP2 in an Indonesian family segregating for WS1.


Input: The increase in pulmonary arterial pressure (PAP), PVR, RVM, and pulmonary vascular remodeling in response to chronic hypoxia was attenuated in animals overexpressing prepro-CGRP, whereas systemic pressure was not altered while in chronically hypoxic mice, angiotensin II and endothelin-1-induced increases in PAP were reduced, whereas decreases in PAP in response to CGRP and adrenomedullin were not changed and decreases in PAP in response to a cAMP phosphodiesterase inhibitor were enhanced by AdRSVCGRP.

PAP

vascular remodeling


Input: The FISH results were compared with the results of cytogenetic and RT-PCR analyses in 75 patients with leukemia or other myeloproliferative syndromes (chronic myeloid leukemia, 30; acute lymphoblastic leukemia, 24; acute myelogenous leukemia, 6; essential (hemorrhagic) thrombocythemia, 12; chronic myelomonocytic leukemia, 2; and polycythemia vera, 1).

FISH

leukemia


Input: Genotype-phenotype analysis implies that phenotypic severity of AEXS is primarily determined by the expression pattern of CYP19A1 and the chimeric genes and by the structural property of the fused exons with a promoter function (i. e., the presence or the absence of a natural translation start codon).

AEXS

AEXS


Input: The high-mobility group A1 gene up-regulates cyclooxygenase 2 expression in uterine tumorigenesis.

cyclooxygenase 2

tumorigenesis


Input: We found a novel GJA1 mutation (W25C) as the possible causative gene in this sporadic ODDD patient with neurological features of motor deficits by pyramidal tract signs, and sensory deficits due to peripheral nerve disturbance.

sporadic


Input: We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome.

Beare-Stevenson cutis gyrata syndrome

Beare-Stevenson cutis gyrata syndrome


Input: We conclude that DAF and C3 mRNAs are synthesized in human diseased kidneys, and that a balance between locally synthesized DAF and C3 may be important in the progression of glomerulonephritis.

DAF

glomerulonephritis


Input: The expression of each of these mRNAs was lower in the gray matter of the subjects with schizophrenia compared to the control subjects, although only the reductions in Cdc42 and Duo remained significant after corrections for multiple comparisons.

schizophrenia

schizophrenia


Input: We present here a case of Follicular Lymphoma with leukemic presentation and a complex translocation involving the IgH, BCL2 and BCL6 loci.

translocation


Input: Changed expression of brain CMKLR1 is suggested to be involved in the mechanism of depression.

depression

depression


Input: Stargardt disease-3 (STGD3) is an autosomal dominant juvenile-onset macular dystrophy characterized by progressive decreasing visual acuity, bilateral atrophic changes in the macula and absence of characteristic dark choroids.

Stargardt disease

atrophic


Input: We identified 2 previously described PAPA syndrome-associated PSTPIP1 mutations, A230T and E250Q, and a novel change, E250K.

PAPA syndrome

PAPA syndrome


Input: However, this does not explain how MTMR2 mutants specifically produce demyelination in the peripheral nerve.

demyelination


Input: In AD mice deficient for TREM2, the CD45 (hi) Ly6C (+) macrophages are virtually eliminated, resulting in reduced inflammation and ameliorated amyloid and tau pathologies.

inflammation


Input: The BDNF val66met polymorphism was independently associated with prevalent PSD, but not with persistent and incident PSD nor with depressive symptoms severity.

PSD

depressive symptoms


Input: In the present study, the mRNA expressions of Sonic hedgehog (SHH), Indian hedgehog (IHH), Patched, Smoothened, and Gli1 were examined in four cultured colon cancer cell lines by reverse transcription-PCR.

SHH

colon cancer


Input: Knockdown of p53 in p53 wild-type U87 glioma cells displayed microtubule misalignment, multiple centrosomes, and mitotic catastrophe cell death.

glioma


Input: We now show a second function for DRA relevant to colon tumorigenesis, i. e., growth suppression.

DRA

tumorigenesis


Input: Furthermore, our data demonstrate that the migration profile of frataxin depends on the experimental conditions, a behavior which most likely contributed to the confusion concerning the endogenous mature frataxin.

frataxin

confusion


Input: Light and electron microscopic immunohistochemistry revealed a translocation of insulin receptor from the plasma membrane (normal tissue) into the cytoplasm in clear-cell FAHs and an increase in insulin receptor expression in HCAs and HCCs.

insulin receptor

translocation


Input: Thus, we have attempted to create a gradient, starting at the left with the most severely affected MECP2-deviant subgroups, represented by boys who are diseased in the intrauterine phase or as neonates, and at the right, the most mildly affected subgroup, female asymptomatic carriers.

asymptomatic


Input: A siRNA CD44 cell clone xenografted in nude mice generated tumors with a reduced tumor volume and wet weight, as compared to control vector clone.

weight


Input: ], fragile X and CF simultaneously, and two disorders for which PGD had not been previously attempted, namely neurofibromatosis type 2 (NF2) and Crouzon syndrome.

PGD

neurofibromatosis type 2


Input: In our study population hepatic TRIB3 mRNA expression was associated with surrogate markers of insulin resistance.

insulin resistance

insulin resistance


Input: We have screened for SGCE mutations in index cases from 76 French patients with myoclonic syndromes, including myoclonus dystonia (M-D), essential myoclonus (E-M), primary myoclonic dystonia, generalised dystonia, dystonia with tremor, and benign hereditary chorea.

SGCE

generalised dystonia


Input: Information for each participant was reviewed by an adjudication panel and a diagnosis of normal cognition, MCI, or dementia was made using published criteria.

MCI

normal cognition


Input: Synergistic interactions between interferon-gamma and TRAIL modulate c-FLIP in endothelial cells, mediating their lineage-specific sensitivity to thrombotic thrombocytopenic purpura plasma-associated apoptosis.

FLIP

thrombocytopenic purpura


Input: Kaempferol regulates OPN-CD44 pathway to inhibit the atherogenesis of apolipoprotein E deficient mice.

apolipoprotein E

atherogenesis

apolipoprotein E

atherogenesis


Input: PTEN expression induced decreased Sp1 DNA binding by dephosphorylating Sp1 and interfered with transcriptional transactivation of IGF-II by HBx in hepatoma cells.

hepatoma


Input: RNA from MDA-MB-435 human breast cancer cells transduced with RARbeta2 or empty retroviral vector (LXSN) was analyzed using Agilent Human 1A Oligo microarrays.

breast cancer

breast cancer


Input: The mRNA levels of the long form of the leptin receptor in adipose tissue were not correlated to body weight, fasting plasma insulin, plasma glucose, or plasma leptin levels.

leptin receptor

body weight


Input: These data suggest that down-regulation of DCBLD2, often associated with promoter hypermethylation, is a frequent event that may be related to the development of gastric cancer.

gastric cancer

gastric cancer


Input: Our findings support the concept that dysregulated eIF2α phosphorylation, whether decreased by mutation of the kinase (EIF2AK3) in Wolcott-Rallison syndrome or increased by mutation of the phosphatase (PPP1R15B), is deleterious to β-cells and other secretory tissues, resulting in diabetes associated with multisystem abnormalities.

abnormalities


Input: Involvement of HGF and its receptor (c-met) is evident in animal models of acute lung injury produced by hydrochloride inhalation.

HGF

inhalation


Input: In this study we describe a novel point mutation in exon 15 of the NF2 gene, which is found in lymphocyte DNA of two NF2 patients from one family.


Input: For BM, LGD, HGD, and EAC, respectively, the average numbers of chromosome arms with loss per sample were 0. 30, 3. 21, 7. 70, and 11. 90 (P for trend = 4. 82 x 10 (-7)), and the mean percentages of single nucleotide polymorphisms with allele loss were 0. 1%, 1. 8%, 6. 6%, and 17. 2% (P for trend = 2. 64 x 10 (-6)).

HGD

arms


Input: To better understand sialoglycan functions in the nervous system, we studied brain anatomy, histology, biochemistry, and behavior in mice with engineered mutations in St3gal2 and St3gal3, sialyltransferase genes responsible for terminal sialylation of gangliosides and some glycoproteins.

nervous system


Input: Genomic instabilities (GI), illustrated by a higher GI Index (GII), microsatellite instability (MSI), loss of heterozygosity (LOH) and defects in mismatch repair (MMR) systems, are also expressed.

MMR

microsatellite instability


Input: Recently, two fusion genes were described in mesenchymal chondrosarcomas: a recurrent HEY1-NCOA2 found in tumors that had not been cytogenetically characterized and an IRF2BP2-CDX1 found in a tumor carrying a t (1; 5) (q42; q32) translocation as the sole chromosomal abnormality.

translocation


Input: Although the symptoms of myasthenia gravis (MG) and experimental MG (EAMG) are caused by autoantibodies, CD4 (+) T cells specific for the target antigen, the nicotinic acetylcholine receptor, and the cytokines they secrete, have an important role in these diseases.

myasthenia gravis


Input: This study was aimed to validate whether the polymorphisms in the GABRP gene are associated with the susceptibility to systematic lupus erythematosus (SLE).

GABRP gene

lupus erythematosus


Input: Here we identify mutations in the genes encoding PLK4 kinase, a master regulator of centriole duplication, and its substrate TUBGCP6 in individuals with microcephalic primordial dwarfism and additional congenital anomalies, including retinopathy, thereby extending the human phenotypic spectrum associated with centriole dysfunction.

microcephalic primordial dwarfism

microcephalic primordial dwarfism


Input: As Taspase1 was shown to cleave MLL which forms complexes with E2F transcription factors to regulate Cyclins E, A, and B expression in mouse embryonic fibroblasts (MEFs), we investigated whether the cleavage of MLL by Taspase1 constitutes an essential in vivo axis for HER2/neu-induced mammary tumorigenesis.

MLL

mammary tumorigenesis


Input: Two siblings, a 10-year-old boy and a 32-year-old woman, born from consanguineous parents, presented with central vision loss and macular pigmentary atrophic changes suggestive of Stargardt disease.

Stargardt disease

atrophic


Input: In this study we assessed if targeting phosphatase and tensin homologue (PTEN) deletion to airway basal cells could initiate lung tumor formation or increase lung SCC formation.

tensin

lung tumor


Input: In this study, we sequenced SOD1, FUS and TARDBP in a central-southern Chinese cohort of 173 patients with ALS (15 familial ALS and 158 sporadic ALS) to detect mutations.

FUS

sporadic


Input: In this cross-sectional study we compared the central aortic systolic pressure (CASP), peripheral brachial systolic pressure (PSP), peripheral brachial diastolic pressure (PDP) and augmentation index (AIx) between normotensive offspring of nonhypertensive parents (ONT) and normotensive offspring with at least one hypertensive parent (OHT).

PDP

diastolic pressure


Input: When combined pituitary hormone deficiency includes hypogonadotropic hypogonadism as a feature, PROP1 mutations are the most common of the six genes involved.

pituitary hormone deficiency


Input: To further explore the role of iASPP-SV in glioma, U87 cells were transfected with iASPP-SV by lentivirus and then treated with temozolomide (TMZ).

glioma


Input: In addition, the intranasal exposure of CSE simultaneously with OVA induced OVA-specific T (H) 2-type immune responses and airway inflammation, which were inhibited by the blockade of the TSLP activity.

CSE

inflammation


Input: 1, 25 (OH) 2D3 also induced amphiregulin mRNA in estrogen receptor-positive and-negative human breast cancer cell lines, but not in LNCaP human prostate cancer cells.

amphiregulin

breast cancer

amphiregulin

breast cancer


Input: Hypoxic culture alone also stimulated VEGF secretion, but more importantly, hypoxic culture conditions doubled the rate of VEGF secretion stimulated by the cytokines TGF-beta and IL-1.

VEGF

hypoxic


Input: We examined patterns of microsatellite instability (MSI) and MMR genes among patients < 50 years old with non-familial CRC (patients with not more than 1 family member with CRC).

MMR

microsatellite instability