Input: The frequency and severity of adverse effects resulting from the administration of streptokinase and alteplase were determined in 126 consecutive patients who received standard dosages of these agents for the treatment of acute myocardial infarction.

alteplase

myocardial infarction

alteplase

myocardial infarction


Input: In the present study, we found that glycitein, a bacterial metabolite of the isoflavone glycitin, inhibits the expression of MMP-3 and MMP-9 at promoter, mRNA, and protein levels in PMA-stimulated U87MG human astroglioma cells.

astroglioma

astroglioma


Input: In the PAH rabbit model transfected with the HGF gene, hemodynamic abnormalities and right ventricular hypertrophy were prevented, as confirmed by invasive measurements and electrocardiographic examinations.

HGF gene

abnormalities


Input: We have observed the existence of promoter CpG island hypermethylation-associated silencing of PIWIL1, PIWIL2, PIWIL4, and TDRD1 in primary seminoma and non-seminoma testicular tumors, in addition to testicular germ cell tumor cell lines.

testicular tumors


Input: In this study, AIPL1 was screened for mutations in 512 unrelated probands with a range of retinal degenerative diseases to determine if AIPL1 mutations cause other forms of inherited retinal degeneration and to determine the relative contribution of AIPL1 mutations to inherited retinal disorders in populations worldwide.

retinal degeneration


Input: The roles of hypoxia and hypoxia inducible factor (HIF) in regulating the expression of CD44 and its variant isoforms (CD44v6, CD44v7/8) were investigated in human breast cancer cells, by quantitative real-time polymerase chain reaction (qRT-PCR) to determine mRNA levels, and fluorescence associated cell sorting (FACS) to determine cell surface expression of CD44, under normoxic and hypoxic conditions.

hypoxic


Input: Knockdown of eEF2 by short hairpin RNA (shRNA) significantly inhibited the growth in four eEF2-expressing cell lines, PC14 lung cancer, PCI6 pancreatic cancer, HT1080 fibrosarcoma and A172 glioblastoma cells, but not in eEF2-undetectable MCF7 cells.

pancreatic cancer


Input: Characterization of FBN1 c. 5917 + 6T & gt; C in transfected HEK293 cells demonstrated that it caused skipping of exon 47, leading to the loss of the 33th calcium binding epidermal growth factor-like domain associated with Marfan syndrome.

Marfan syndrome

Marfan syndrome


Input: Transfection of cardiomyocytes with full length or truncated chimaeric gp130 cytoplasmic domain/Erythropoietin receptor (EpoR) extracellular domain fusion constructs showed that the membrane proximal Box 1 and Box 2 containing region of gp130 was necessary and sufficient for MAPK and PI3K activation; hypertrophy; SERCA2 expression and iNOS/NO induction in the absence of JAK/STAT activation.

hypertrophy


Input: We investigated whether polymorphisms in XRCC1 alter DNA repair capacity and modify breast cancer risk associated with smoking.

smoking


Input: The detailed profile of alternative transcripts of GH2, CSH1, CSH2, and CSHL1 genes in placenta from uncomplicated term pregnancies of the REPROMETA sample collection was addressed in association with the birth weight of newborns, grouped as appropriate for gestational age (AGA; n = 23), small for gestational age (SGA; n = 15), and large for gestational age (LGA; n = 34).

birth weight


Input: A further nine novel ATP6V0A4 mutations were found in " sporadic " cases.

sporadic


Input: Renal function, diabetes prevalence, systolic blood pressure, heart rate and ejection fraction differed significantly in the high PTX3 (≥ 3. 0 ng/ml, n = 107) and low PTX3 (< 3. 0 ng/ml, n = 418) groups (all p < 0. 05).

diabetes


Input: To investigate atherosclerosis susceptibility associated with HDL deficiency alone and in combination with other risk factors, such as high levels of LDL, we have quantified diet-induced atherogenesis in a series of genetically engineered mice, including mice with low HDL levels due to targeted disruption of both apo A-I alleles (AI KO mice), mice with high LDL levels due to expression of a human apolipoprotein B transgene (Btg mice), and mice with combined high LDL and low HDL levels due to the presence of the human apo B transgene and apo A-I knockout alleles, respectively (AI KO/Btg mice).

apolipoprotein B

atherogenesis


Input: Transient transfection studies confirmed that mutant GPIX was not expressed on the transfected cells, showing that the mutation was responsible for the BSS phenotype observed in the patient.

GPIX

BSS

GPIX

BSS


Input: In schizophrenia, we confirmed and replicated significantly increased expression of TNFSF13 mRNA in the DLPFC.

schizophrenia

schizophrenia


Input: Thus, CXCR4 represents an alternative pathway for MIF-mediated signal transduction during bladder inflammation.

MIF

bladder inflammation


Input: Probing pocket depth (PPD), clinical attachment loss (CAL), plaque accumulation (plaque%) and bleeding of probing were obtained.

CAL

plaque


Input: PRDX2 was recently reported to be a negative regulator of platelet-derived growth factor signaling, and its silencing was suggested to be involved in melanomas.

melanomas

melanomas


Input: In a HFD model, DPP4-rats exhibited reduced adipose tissue inflammation and improved insulin resistance, which may be mediated in part by GIP induction of adiponectin.

GIP

insulin resistance


Input: The objective of our study was to assess the effect of promoter variations of HMOX1 and UGT1A1 genes and of serum bilirubin on the risk of sporadic colorectal cancer (CRC).

sporadic


Input: In asymptomatic KCNQ1 mutation carriers, repolarization abnormalities are more evident in the QT peak than in the QT end interval during adrenergic adaptation, possibly related to transmural differences in the degree of I (Ks) block.

asymptomatic


Input: Heterozygotes of the FMR1 premutation have a higher incidence of immune mediated disorders such as autoimmune thyroid disorder, especially when accompanied by FXTAS motor signs.

thyroid disorder


Input: Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.

Morquio A syndrome

Morquio A syndrome


Input: On the basis of the intricate network of interactions between GADD45A, p53, and BRCA1, and the fact that both BRCA1 or TP53 mutations are involved in breast cancer tumorigenesis, we undertook the characterization of the entire coding sequence, intron/exon boundaries, and p53-and ZNF350-binding sequences of this potential breast cancer susceptibility candidate gene in a sample set of 96 women affected with breast cancer from non-BRCA1 and BRCA2 French Canadian families with a high risk of breast cancer and 95 healthy controls from the same population.

tumorigenesis


Input: The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs1800470 SNPs were associated with the degree of pleural thickening calcification (p = 0. 037 and p = 0. 035), and the CARD8 rs2043211 SNP with the greatest thickness of pleural plaques (p = 0. 015).

calcification

calcification


Input: CXCR4-usage (X4) was detected in 14/27 (52%) but no differences in CD4 cell change or plasma viremia were associated with X4-usage.

viremia


Input: Investigation of manic and euthymic episodes identifies state-and trait-specific gene expression and STAB1 as a new candidate gene for bipolar disorder.

manic

manic


Input: To credential Stathmin 1 (STMN1) and p16 (INK4A) (p16) as adjunct markers for the diagnosis of serous tubal intraepithelial carcinoma (STIC), and to compare STMN1 and p16 expression in p53-positive and p53-negative STIC and invasive high-grade serous carcinoma (HGSC).

serous carcinoma


Input: As the majority of the known mutations are located in the R-SMAD binding domain of SKI, our study further emphasizes the importance of TGF & #946; signaling in the pathogenesis of SGS.

SKI

SGS

SKI

SGS


Input: In experimental immune glomerulonephritis, increased iNOS expression correlated with proteinuria levels, and appeared colocalized with NF-kappaB in glomerular and infiltrating cells.

NF-kappaB

proteinuria


Input: TNF-alpha changes the electrophysiological properties of myenteric neurones via cyclooxygenase metabolites and protein tyrosine phosphorylation; the cells primarily responding to the cytokine seem to be non-neuronal cells in the ganglion culture, which respond with a nuclear STAT5 translocation suggesting an action on gene transcription.

ganglion


Input: LIN28 and LIN28b facilitate cellular transformation in vitro, and overexpression is associated with advanced disease across multiple tumor types.

tumor

tumor


Input: The role of RAD9 in tumorigenesis.

tumorigenesis


Input: Our results in the methadone group suggest (a) near-maximal stimulation of prolactin secretion, with a blunted prolactin response to insulin hypoglycemia, (b) mild suppression of cortisol levels, but an exaggerated cortisol response to stimulation, (c) a delayed and inhibited insulin response to food ingestion with resulting mild hyperglycemia, (d) low body weight, but elevated calorie ingestion, and (e) inability to concentrate urine when dehydrated, which was partially corrected by administration of arginine vasopressin.

arginine vasopressin

dehydrated

arginine vasopressin

dehydrated


Input: Relevance of BCAR4 in tamoxifen resistance and tumour aggressiveness of human breast cancer.

breast cancer

breast cancer


Input: Recent studies showed that a 30-kDa mitochondrial phosphoprotein, designated steroidogenic acute regulatory protein (StAR), is essential for this translocation.

steroidogenic acute regulatory protein

translocation


Input: Two genome-wide association studies recently showed alcohol dependence to be associated with a single-nucleotide polymorphism (rs13273672) located on a gene (GATA4) that encodes a transcription factor of atrial natriuretic peptide (ANP).

ANP

alcohol dependence


Input: Furthermore, it has been shown that after transient forebrain ischemia, cdk5 causes specific death of CA1 neurons in the rat hippocampus by direct phosphorylation of the NR2A subunit of the NMDA receptor and subsequent excitotoxicity.

ischemia


Input: Patients with AD with FLG LOF mutations are known to have more persistent disease, more severe disease, and greater risk of food allergies and eczema herpeticum.

FLG

food allergies


Input: Genetic correlations between plasma adiponectin HDL cholesterol and plasma insulin ranged from 15 to 24% but were not significant for fasting glucose, triglycerides, blood pressure, homeostasis model assessment of insulin resistance (HOMA-IR), and C-reactive protein.

C-reactive protein

insulin resistance


Input: The human homolog of the Drosophila neural fate determination gene CASZ1, a zinc-finger transcription factor, maps to chromosome 1p36. 22, a region implicated in NB tumorigenesis.

tumorigenesis


Input: This study was designed to determine left ventricular expression of CT-1 and its glycoprotein 130 (gp130)/leukemia inhibitory factor receptor complex in human end-stage heart failure due to ischemic and dilated cardiomyopathy.

leukemia inhibitory factor receptor

dilated cardiomyopathy


Input: When the group with non-LC and no/mild fibrosis was used as controls, the ADH1B * 2-associated AORs increased according to the severity of their liver disease: 1. 67 (1. 32 to 2. 11) for the group with non-LC and serum type IV collagen values ≥ 200 ng/ml, 1. 81 (1. 24 to 2. 63) for the group of Child-Pugh class A LC, and 3. 17 (1. 98 to 5. 07) for the group with Child-Pugh class B/C LC.

mild


Input: BRCA1 heterozygotes developed EOC at a younger age compared with BRCA2 heterozygotes and women who had sporadic ovarian carcinoma.

sporadic


Input: The purpose of this study was to determine whether polymorphisms of the CYP2C9 genotype are associated with the development of serious complications of NSAID-related ulcers.

ulcers


Input: To investigate the prostaglandin E2 (PGE2) biosynthetic mechanism in bladder carcinogenesis, we established Wistar rat model of bladder papilloma and transitional cell carcinoma (TCC) induced by 5% terephthalic acid (TPA) treatment.

TPA

bladder papilloma


Input: Instead, we show that HIG2 decorates the hemimembrane of lipid droplets, whose number and size increase on hypoxic inhibition of fatty acid β-oxidation, and colocalizes with the lipid droplet proteins adipophilin and TIP47.

adipophilin

hypoxic


Input: These observations suggested that genetic variants in the CCK gene might be a possible risk factor for smoking.

CCK gene

smoking


Input: IL-4 is a determining factor in immunologic mechanisms to allergy and inflammation.

inflammation


Input: Though p53 codon 72 single-nucleotide polymorphism (SNP) did not affect general cancer risk or age of onset, arginine homozygozity, in contrast to proline homozygozity, was found to decrease breast cancer risk in the later onset sporadic cases.

sporadic


Input: To test this hypothesis directly, we investigated patients displaying the classic features of Laron syndrome (familial GH resistance characterized by severe dwarfism and metabolic dysfunction), except for the presence of normal binding activity of the plasma GH-binding protein, a molecule that derives from the exoplasmic-coding domain of the GHR gene.

GHR

Laron syndrome

GHR

Laron syndrome


Input: Recombinant TGF-β1 was capable of rescuing EMT and invasion that was inhibited by siRNA for Atg3 and 7 in HepG2 and BEL7402 cells under starvation.

EMT

starvation


Input: ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: After CDDP chemotherapy, among pathologic specimens in which MGMT expression was positive, necrosis rates were as follows: grade I, 5 cases (38%); grade II, 7 cases (25%); grade III, 15 cases (21%); grade IV, 2 cases (23%).

MGMT

necrosis

MGMT

necrosis


Input: Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

TAR syndrome

TAR syndrome


Input: Therefore, modulation of MSR activity could have a beneficial effect on atherogenesis.

MSR

atherogenesis


Input: These findings have significant implications for our understanding of GAS pathogenesis, and research aimed at therapeutic targeting of plasminogen activation in invasive bacterial infections.

GAS

bacterial infections


Input: In larynx SCC, Smad7-patients did not reach mOS whereas mOS of Smad7 + patients were only 7. 0 months (P = 0. 04).

larynx


Input: The cross-sectional association between APOE genotype and ankle-brachial index (ABI) and vascular disease prevalence; and the prospective relation with incident PAD and other types of vascular disease (coronary artery disease, stroke and vascular mortality) were evaluated in 7418 patients from the Secondary Manifestations of ARTerial disease (SMART) study.

APOE

ankle-brachial index


Input: Furthermore, ≈ 20% of the altered ncRNAs mapped to three imprinted regions (Snrpn-Ube3a, Dlk1-Dio3 and Sfmbt2) that showed differential methylation and have been previously implicated in neurodevelopmental disorders.

neurodevelopmental disorders


Input: A hematological screening for alpha-thal should be considered in patients with mild developmental delay and a suggestive phenotype of ATR-16 with microcytic hypochromic anemia and normal iron status.

ATR

mild


Input: In the present study we analyzed 266 spontaneously arising breast carcinomas for allelic losses in the BRCA1 and TP53 regions on chromosome 17, the BRCA2 region on chromosome 13, the ATM (mutated in ataxia-telangiectasia) region on chromosome 11 and on the chromosomal arms 7q and 16q.

ATM

arms


Input: Forty-eight h after MCAO, infarct volume by MRI, neuronal survival, inflammation factors and neurotrophin receptor (TrkB) were analysed.

MRI

inflammation


Input: We describe a new technique, based on the host cell reactivation assay, for the rapid determination of the complementation group of NER-deficient xeroderma pigmentosum (XP), Cockayne' s syndrome (CS) and photosensitive trichothiodystrophy (TTD) human cells by cotransfection of a UV-irradiated reporter plasmid with a second vector containing a cloned repair gene.

NER

photosensitive trichothiodystrophy


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

glucose intolerance

glucose intolerance


Input: Interviews were done and records were reviewed for the following variables: gender, ethnicity, hypertension, triglycerides, cholesterol, smoking, diabetes mellitus, homocysteine, cancer, hepatitis C, hormone replacement therapy/oral contraceptives, hereditary thrombophilia, anticardiolipin antibodies IgG, IgM and IgA, and lupus anticoagulant (LAC).

LAC

smoking


Input: Expression of TRF1, TRF2, TIN2, TERT, KU70, and BRCA1 proteins is associated with telomere shortening and may contribute to multistage carcinogenesis of gastric cancer.

carcinogenesis


Input: The atherosclerotic lesion was significantly alleviated by NR1 treatment and this attenuation was marked by reduction in lipid deposition, fibrosis and oxidative stress.

atherosclerotic lesion


Input: We tested seven regions selected from the shortlist of genes hypomethylated in HCC and showed that HRM analysis of several of them distinguishes methylation states in liver cancer specimens from normal adjacent liver and chronic hepatitis in the Shanghai area.

HCC

chronic hepatitis


Input: The observed increase in the expression of CADPS2 may be related to the impaired synaptic function in schizophrenia.

schizophrenia

schizophrenia


Input: We demonstrated that Ad-IL-24 induced significant growth inhibition and apoptosis, upregulated the expression of P21, P27, and Bax, downregulated Bcl-2 expression, and activated caspase-3 in Hep-2 laryngeal tumor cells, while it exerted no direct effect on the in vitro proliferation of WI-38 normal diploid cells.

laryngeal tumor


Input: Cytogenetics and array comparative genomic hybridization (aCGH) studies have revealed the same partial Xq monosomy and partial 18q trisomy in both the 32-year-old female with DOR and the unaffected mother.

DOR

monosomy


Input: Glutathione S-transferase mu2 suppresses cancer cell metastasis in non-small cell lung cancer.

metastasis


Input: Similar outcomes were identified in BRCA2 carriers and those with sporadic disease in multivariable analyses.

sporadic


Input: Complexin I expression is dysregulated in a number of neurological diseases including schizophrenia and depression.

Complexin I

depression

Complexin I

depression


Input: Tumors samples were analyzed for methylation in LINE-1 and 16 CpG islands (CACNA1G, CDKN2A [p16], CRABP1, IGF2, MLH1, NEUROG1, RUNX3, SOCS1, CHFR, HIC1, IGFBP3, MGMT, MINT1, MINT31, p14 [ARF], and WRN); microsatellite instability (MSI); the CpG island methylator phenotype (CIMP); 18q loss of heterozygosity; KRAS, BRAF, and PIK3CA mutations; and expression of beta-catenin, p53, p21, p27, cyclin D1, fatty acid synthase, and cyclooxygenase-2.

cyclin D1

microsatellite instability


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: VEGI-armed oncolytic adenovirus inhibits tumor neovascularization and directly induces mitochondria-mediated cancer cell apoptosis.

VEGI

adenovirus


Input: In vulnerable CA1 pyramidal neurons however, protein inhibitor of neuronal nitric oxide synthase expression remained at basal level after global ischemia and was associated with an increase in nicotinamide adenine dinucleotide phosphate-diaphorase activity and subsequent DNA fragmentation indicating ischemia-mediated neuronal cell death.

ischemia


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

DMR

precocious pubarche


Input: We hypothesized that driving combined MYC overexpression and Pten loss using recently characterized Hoxb13 transcriptional control elements that are active in prostate luminal epithelial cells would induce the development of genomic instability and aggressive disease with metastatic potential.

genomic instability


Input: A selective estrogen receptor-beta agonist causes lesion regression in an experimentally induced model of endometriosis.

estrogen receptor

regression


Input: Together, these data support a role of dysregulation of an activity-dependent EGR2/MeCP2 pathway in RTT and autism.

autism

autism


Input: We examined the brains from 15 AIDS autopsies (8 with HIV encephalitis and 7 without) and 4 non-infected control autopsies for the presence of DNA strand breaks, for associated changes in the expression of the DNA repair enzymes KU80 and Poly (ADP-ribose) polymerase (PARP), and for accumulation of amyloid precursor protein (APP).

PARP

encephalitis


Input: Therefore, our data suggested that the ApoE epsilon2/epsilon4 genotype might be a susceptibility variant of moderate effect for sporadic idiopathic PD in our samples, whereas the ACT gene signal peptide polymorphism might not.

ACT

sporadic


Input: We studied 98 kidney transplant patients (KTP) with stable renal allograft undergoing sirolimus treatment: 39 with HCHL and HTRG within 90 days postsirolimus treatment (PST) and 59 without hyperlipidemia PST.

PST

hyperlipidemia


Input: PTX3 interacts with a set of self, nonself and modified self ligands and exerts essential roles in innate immunity, inflammation control and matrix deposition.

inflammation


Input: Our study provides the first demonstration of cytomorphologic differentiation between metastatic KRAS-AD and metastatic EGFR-AD in lymph node aspiration specimens.

EGFR

aspiration


Input: The regulation of cyclin D3 and cdk4 by L-Arg starvation occurs at transcriptional and posttranscriptional levels.

cyclin D3

starvation


Input: Hereditary dentin defects can be categorised into two classes according to their clinical manifestations: dentinogenesis imperfecta (DGI), which includes three types (DGI-I, DGI-II and DGI-III), and dentin dysplasia (DD), which includes two types (DD-I and DD-II).

DGI-I

DGI-III

DGI-I

DGI-III


Input: Interestingly, the upregulation of AKT1, AKT2 and AKT3 proteins were all significantly associated with tumor aggressiveness and poor prognosis in patients with HCC.

HCC

aggressiveness


Input: We have screened 28 familial or sporadic HED cases with no mutations in the EDA and EDAR genes for EDARADD, TRAF6, TAB2 and TAK1 mutations.

EDARADD

HED

EDARADD

HED


Input: ] and pathogens, illustrating the importance of HLA-E for anti-viral and anti-tumor immunity.

HLA-E

tumor immunity


Input: A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene.

calcium-sensing receptor

autosomal dominant hypocalcemia

calcium-sensing receptor

autosomal dominant hypocalcemia


Input: The present results suggest that the TGM2 gene may be involved in the development of schizophrenia.

schizophrenia

schizophrenia


Input: In the general population, the NPSR1 Asn (107) Ile polymorphism is associated with AUD and alcohol consumption, dependent on sex, environment and age.

alcohol consumption


Input: The t (11; 22) (q24; q12) chromosomal translocation is specifically linked to ES and primitive neuroectodermal tumors and results, in the majority of cases, in the fusion of the amino terminus of the EWS gene to the carboxyl-terminal DNA-binding domain of the FLI1 gene.

EWS gene

chromosomal translocation


Input: Claudin 3 antibodies also homogeneously stained human renal cell carcinoma tissue and micrometastatic tumor cells as identified by cytokeratin staining in bone marrow biopsies of breast cancer patients.

Claudin 3

renal cell carcinoma


Input: However, we report here on three brothers with varying degrees of renal dysfunction from mild to end-stage renal disease associated with renal barttin and ClC-K expression.

barttin

mild


Input: Matrigel invasion of malignant meningioma cells was significantly altered by modulating cathepsin B activity and by stefin B silencing.

stefin B

malignant meningioma

stefin B

malignant meningioma


Input: A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p & lt; 0. 05), EOTAXIN (p & lt; 0. 01), RANTES (p & lt; 0. 001), and in MM patients: IL-12 (p40), IL-3, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p & lt; 0. 001).

MM

MM


Input: Within gender and generation strata, we noted no consistent pattern of positive or negative correlation of plasma ANP levels with systolic blood pressure, diastolic blood pressure, or heart rate.

ANP

heart rate


Input: Interleukin-6 (IL-6) is high in RA and, together with smoking and obesity, an important contributor to the development of cardiovascular disease (CVD).

smoking


Input: This report extends the Bosley-Salih-Alorainy syndrome phenotype and documents the clinical variability resulting from identical HOXA1 mutations within an isolated ethnic population.

Bosley-Salih-Alorainy syndrome

Bosley-Salih-Alorainy syndrome


Input: Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role (s) leading to PHARC disease had not previously been characterized.

PHARC

PHARC


Input: Lung inflammation was markedly increased in SP-A-/-compared with SP-A +/+ mice and was associated with increased hemorrhage and epithelial cell injury.

SP-A

hemorrhage


Input: In the present study, we investigated the incidence of allelic imbalance at the BRCA1, BRCA2 and TP53 loci, in 82 sporadic breast carcinomas using a bank of highly polymorphic microsatellite markers located at the BRCA1, BRCA2 and TP53 regions.

sporadic


Input: Here, using intravital microscopy to evaluate mice lacking specific isoforms of the serine/threonine kinase AKT and bone marrow chimeras, we found that hematopoietic cell-associated AKT2 is important for neutrophil adhesion and crawling and neutrophil-platelet interactions on activated endothelial cells during TNF-α-induced venular inflammation.

AKT

adhesion


Input: The genotypic and allelic frequencies of the GRL Bc1I polymorphism were otherwise similar in obese and normal weight subjects.

GRL

obese


Input: We evaluated chromosome aberrations (CAs) in lymphocytes of 200 workers exposed to organic solvents and 200 referents and the influence of polymorphisms in xenobiotic-metabolism (CYP2E1, GSTM1 and GSTT1) and in DNA repair genes (XRCC1 (194) Arg/Trp, XRCC1 (280) Arg/His, XRCC1 (399) Arg/Gln and XRCC3 (241) Thr/Met).

chromosome aberrations


Input: In this paper we report two novel missense mutations in GALK1 gene, identified in two unrelated patients with galactokinase deficiency.

galactokinase deficiency

galactokinase deficiency


Input: The GSTP1 * C allelic variant should be considered a candidate for LOAD, particularly in persons having the ApoE epsilon4 allelic variant, because the GSTP1 and ApoE gene products are implicated in oxidative stress and apoptosis processes leading to beta-amyloid-mediated neurodegeneration.

neurodegeneration


Input: Although it is theoretically possible for p53 dysfunction to arise through mechanisms that do not involve TP53 mutation, such a phenomenon has not previously been demonstrated in a sporadic tumor.

sporadic


Input: In ulcerative colitis and Crohn' s colitis tissues, MUC2 and MUC3 mRNA expression displayed a normal pattern regardless of whether the mucosa manifested active or quiescent inflammation.

inflammation


Input: We prospectively studied 1750 women, age >/= 65 years, who underwent measurements of hip and calcaneal bone mineral density (BMD), were typed for APOE and followed for approximately 7. 0 years for the occurrence of fractures and falls.

APOE

bone mineral density


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

MWS

MWS


Input: The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater.

developmental delay

developmental delay


Input: FSTL1 has previously been implicated in diverse disease processes as a regulator of inflammatory cytokine expression, and we therefore evaluated the response of the genetrap strain to cisplatin-mediated acute kidney injury, a disease model with highly cytokine-dependent pathology.

acute kidney injury

acute kidney injury


Input: To study on the polymorphism of UCP2 gene in Chengdu simple obesity and normal-weight people and to initially investigate the relationship between UCP2 Ala55Val variation and gut bacteria.

weight


Input: Investigation of genetically engineered animal models confirms the role of PRKAR1A as a tumour suppressor and has begun to elaborate mechanisms underlying tumorigenesis in this disorder.

tumorigenesis


Input: This study investigated whether the CCR5Δ32 (rs333) and CCR5 59029 A/G (promoter region--rs1799987) polymorphisms of the CCR5 gene are associated with different clinical forms of chronic Chagas disease and with the severity of left ventricular systolic dysfunction in patients with chronic Chagas heart disease (CCHD).

CCR5 gene

left ventricular systolic dysfunction


Input: There was no association between bone mass parameters and the APOE allele groups.

APOE

bone mass


Input: As TNFalpha is a major contributor in intestinal inflammation, the aim of this study was to assess its effect on FOXO3 and FOXO3' s contribution to intestinal inflammation in vitro and in vivo.

FOXO3' s

inflammation


Input: Peripheral blood samples from patients with invasive cervical cancer (ICC, n = 144) and non-cancer controls (NCC, n = 179) were used to detect three biallelic IL-10 promoter polymorphisms at-1082,-819, and-592 sites by polymerase chain reaction-restriction fragment length polymorphism assay using MnlI, MaeIII and RsaI, respectively.

NCC

invasive cervical cancer


Input: This novel autosomal dominant macrothrombocytopenia associated with platelet dysfunction raises interesting questions about the role of integrin beta (3), and its betaTD domain, in platelet formation and function.

integrin beta (3

autosomal dominant macrothrombocytopenia

integrin beta (3

autosomal dominant macrothrombocytopenia


Input: Rarely, SMN1-deleted individuals are fully asymptomatic despite carrying identical SMN2 copies as their SMA III-affected siblings suggesting protection by genetic modifiers other than SMN2.

asymptomatic


Input: Autistic phenotype from MEF2C knockout cells.

Autistic

Autistic


Input: The central nervous system malformations seen in patients with ZIC2 mutations ranged from alobar HPE (most common) to middle interhemispheric fusion defect (one case).

nervous system malformations


Input: We conducted a population-based study to investigate the relationship between candidate genes for obesity (UCP1, UCP2, ADRA2B, ADRB3, LEPR, VDR and ESR1) and adiposity measures (body mass index, body fat percentage, weight, waist circumference and waist-hip ratio) in terms of individual gene and gene x gene interaction in models unadjusted and adjusted for covariates (age, years since menopause, educational level and total energy intake).

weight


Input: Maternal exposure to di-n-butyl phthalate (DBP) induces combined anorectal and urogenital malformations in male rat offspring.

DBP

malformations


Input: Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

Maffucci syndrome

Maffucci syndrome


Input: To determine whether cardiac troponin T gene (TNNT2, AY044273) is the virulence gene of idiopathic dilated cardiomyopathy (IDCM) in a Chengdu population.

T gene

idiopathic dilated cardiomyopathy


Input: TP53 is the most commonly altered oncogene in human tumours and is involved in the development of both sporadic and some hereditary breast tumours.

sporadic


Input: We also revealed that the rate of NKX2. 1, FOXE1, NKX2. 5, and PAX8 mutations were low in patients with CH and athyreosis, in contrast to the higher rate of TSHR mutations.

athyreosis

athyreosis


Input: The aim was to study the mRNA expression of the IL-12R beta (2) chain, after stimulation via the CD2 pathway in peripheral blood mononuclear cells (PBMC), of atopic and non-atopic children, and to investigate correlations to the production of Th1 and Th2 cytokines.

atopic


Input: We found a mutation in TGFBR1 or TGFBR2 in all probands with typical Loeys-Dietz syndrome (type I) and in 12 probands presenting with vascular Ehlers-Danlos syndrome (Loeys-Dietz syndrome type II).

Loeys-Dietz syndrome

Loeys-Dietz syndrome


Input: Subclinical atherosclerosis, measured by coronary artery calcification (CAC), is associated with CHD events and represents part of the biological continuum to overt CHD.

CAC

coronary artery calcification


Input: lncRNAs SPRY4-IT1 has recently been identified to be involved in tumorigenesis of several cancers such as non-small cell lung cancer and esophageal squamous cell carcinoma.

tumorigenesis


Input: The variables age ≥ 48 years, smoking and drinking can be predictors for head and neck cancer development; moreover, A313G GSTP1 polymorphism, GSTM1 and GSTT1 null genotypes can modulate the risk for this disease.

drinking


Input: Proliferating cholangiocytes that form small bile ducts may contribute to cholangiopathies in hepatolithiasis through an EMT-like phenomenon or through interactions with stromal myofibroblasts.

EMT

hepatolithiasis


Input: We suggest that the secretion defects seen in GS2 and FHL3 have a common origin, and we propose that the rab27a/Munc13-4 complex is an essential regulator of secretory granule fusion with the plasma membrane in hematopoietic cells.


Input: The latter gene, which is recurrently translocated in T-cell lymphomas, is significantly higher expressed in the biopsy with the translocation compared to cases without this genetic aberration, indicating a pathogenetic role of PVRL2 also in DLBCL.

DLBCL

DLBCL


Input: In colon epithelial cells (CCD 841, HT-29, Caco-2), direct application of 5-HT induced production of reactive oxygen species (ROS) and monocyte-epithelial adhesion, an initial event of inflammation, which were blocked not only by 5-HT receptor antagonists (tropisetron, RS39604, and SB269970), antioxidants (ascorbic acid, apocynin), and various inhibitors of NADPH oxidase (DPI), CREB (KG-501), and NF-κB (PDTC), but also by transfection with Nox2 siRNA.

NF-κB

adhesion


Input: The IL1β: IL1ra ratio in tracheal aspirates from preterm infants with respiratory failure is predictive of the development of BPD.

respiratory failure


Input: The G/G genotype of PNPLA3 rs738409 SNP was more frequently distributed, and associated with BMI and fibrosis among NBNC-HCC patients but not among HBV or HCV patients.

HCC

fibrosis


Input: Oral intakes and intranasal administration of chitin attenuated allergen-induced airway inflammation in sensitized mice, which may be due to its Th1 adjuvant properties.

inflammation


Input: The purpose of this study was to evaluate whether allelic variation of SCN5A could determine risk of sudden cardiac arrest among patients with CAD.

sudden cardiac arrest


Input: Significant increases in Y2 receptor binding (by 43-48%) were observed in the dentate hilus, sectors CA1 to CA3, and subiculum of specimens with, but not in those without, hippocampal sclerosis.

hippocampal sclerosis


Input: FGFR2 mutations in Pfeiffer syndrome.

Pfeiffer syndrome

Pfeiffer syndrome


Input: Immunofluorescence of HCT116 tumor xenografts demonstrated an inverse relationship between ischemia (as revealed by carbonic anhydrase IX staining) and DNMT1 protein.

carbonic anhydrase IX

ischemia


Input: Erythropoietin is beneficial in mitomycin-induced hemolytic-uremic syndrome.

Erythropoietin

hemolytic-uremic syndrome

Erythropoietin

hemolytic-uremic syndrome


Input: In vitro, OAdV220 provided increased transgene expression over a comparable human Ad5 vector in infected AI, murine RM1 prostate cancer cells.

prostate cancer


Input: Myotubular myopathy (MIM #310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration.

MIM

neonatal hypotonia


Input: In contrast, the expression level of GAPDH in blood samples from mutant tau transgenic mice and patients with FAD was decreased as compared to sporadic cases and healthy controls.

FAD

sporadic


Input: In the present study, we employed different human tumor cell models with endogenous and exogenous expression of HMGA2 and show that upon DNA damage, the presence of HMGA2 caused an increased and sustained phosphorylation of the ataxia telangiectasia and Rad3-related kinase (ATR) and its downstream target checkpoint kinase 1 (CHK1).

ataxia telangiectasia


Input: Assays performed after MIEN1 knockdown in OSC-2 cells showed decreased migration, invasion and filopodia formation; while MIEN1 overexpression in DOK cells increased these characteristics and also up-regulated some Akt/NF-κB effectors, thereby suggesting an important role for MIEN1 in oral cancer progression.

OSC

oral cancer


Input: TSC2 germline mutations were detected in 2 (33. 3%) of 6 patients with TSC-LAM and TSC1 germline mutation in 1 (4. 5%) of 22 sporadic LAM patients.

LAM

LAM


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

leukemia


Input: Our study demonstrates the contribution of IL-17 to myocardial fibrosis in isoproterenol-induced HF.

fibrosis


Input: This study revealed that low PDCD4 expression correlates with biological aggressiveness and poor prognosis in gastric cancer.

aggressiveness


Input: This report further highlights the capacity of high-molecular cytogenetic methods, such as SNP array and FISH, in the identification of submicroscopic rearrangement, structural configuration and parental origin of aberrant while in the evaluation of children with idiopathic developmental delay and intellectual disability.

FISH

developmental delay


Input: We report a girl with a de novo deletion at Xp21. 2 on the maternal chromosome, including DAX1, the GK gene and 3' end of the dystrophin gene, who presented with salt losing adrenal insufficiency and moderate developmental delay, but relatively mild features of muscular dystrophy.

GK gene

mild


Input: HCV infected human hepatoma cells were analyzed to determine (i) ROS, (ii) 8-oxoG and (iii) DNA glycosylases NEIL1, NEIL2, OGG1.

hepatoma


Input: CDX2 and GCC maintain homeostatic regeneration in the intestine by restricting cell proliferation, promoting cell maturation and adhesion, regulating cell migration and defending the intestinal barrier and genomic integrity.

adhesion


Input: This study identifies a specific TBL1XR1 mutation as the cause of Pierpont syndrome.

Pierpont syndrome

Pierpont syndrome


Input: Both sporadic narcoleptic dogs and human narcolepsy-cataplexy subjects showed a significant decrease in hcrtR1 expression, while declines in hcrtR2 expression were not significant in these cases.

sporadic


Input: GDNF is a novel ethanol-responsive gene in the VTA: implications for the development and persistence of excessive drinking.

GDNF

excessive drinking

GDNF

excessive drinking


Input: We predict that the availability of SACS mutation analysis as well as an increasing awareness of the characteristic ARSACS phenotype will lead to the diagnosis of many additional patients, possibly even at a younger age.

SACS

ARSACS

SACS

ARSACS


Input: Both single-gene and gene-set enrichment analyses in genome-wide association data from the largest schizophrenia sample to date of 13, 689 cases and 18, 226 controls show significant association of HIST1H1E and MAPK3, and enrichment of our PSD proteome.

schizophrenia

schizophrenia


Input: Nse-Cre Pten conditional knockout mice, in which Pten is ablated in granule cells of the dentate gyrus and pyramidal neurons of the hippocampal CA3, but not CA1, recapitulate many of the symptoms of humans with inactivating PTEN mutations, including progressive hypertrophy of the dentate gyrus and deficits in hippocampus-based social and cognitive behaviors.

hypertrophy


Input: Arginine: glycineamidinotransferase (AGAT/GATM) deficiency has been described in 9 patients across 4 families.

AGAT

GATM) deficiency

AGAT

GATM) deficiency


Input: Sequencing of EFNA5 was performed in 140 sporadic ARC patients and 142 random unrelated healthy subjects.

sporadic


Input: 52 symptomatic (SPB) and 64 asymptomatic (APB) pigeon breeders were investigated for the HLA-A,-B,-C,-DR; C2, C3, C4 and Bf systems, and C3, C4 and factor B serum concentrations.

factor B

asymptomatic


Input: A role in cell proliferation has been proposed for BCHE, and since growth depends on the number of mitoses, it is not unexpected that variants of this enzyme may influence body stature in different ways.

BCHE

stature


Input: The analysis of cathepsin B-derived oligosaccharides revealed a hypermannosylation of glycoproteins in mice with alpha-mannosidosis as indicated by the predominance of extended Man3GlcNAc2 oligosaccharides.

cathepsin B

alpha-mannosidosis


Input: A diagnosis of BCR-ABL1 (p190)-positive and ETV6-RUNX1-positive B-ALL was made, and treatment was initiated according to the AIEOP-BFM-ALL2000 protocol.

BCR

B-ALL

BCR

B-ALL


Input: In this study we screened all 65 exons of the fibrillin-1 gene in 20 Marfan syndrome families where at least two affected individuals were characterised and available for analysis, another 30 families with only one affected member available for analysis, and in 10 sporadic cases.

Marfan syndrome

Marfan syndrome


Input: The placentas in Cul4b heterozygotes were disorganized and were impaired in vascularization, which may contribute to the developmental delay.

vascularization


Input: The authors examined ENG promoter hypermethylation using real-time, quantitative, methylation-specific polymerase chain reaction in 260 human esophageal tissues.

ENG

esophageal


Input: TNF-alpha induced maximal translocation of NF-kappaB into the nucleus of non-CF as well as CF airway cells within 20 minutes.

TNF-alpha

translocation


Input: These data suggest genetic, biochemical, pathophysiological, and clinical correlations among the aldose reductase gene, extracellular matrix, classic diabetic glomerulopathy, and renal insufficiency.

aldose reductase

diabetic glomerulopathy


Input: Mutations in the GDF5 gene can cause different types of skeletal dysplasia, including brachydactyly type C (BDC) and proximal symphalangism (SYM1).

proximal symphalangism

proximal symphalangism


Input: Predisposing factors include achlorhydria, Helicobacter pylori infection, oxyntic atrophy and TFF2-expressing metaplasia.

metaplasia


Input: N-myc downstream-regulated gene 2 (NDRG2) is one of the important stress-inducible genes and plays a critical role in negatively regulating PI3K/AKT signaling during hypoxia and inflammation.

hypoxia


Input: Mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS) rat results in defective phagocytosis of photoreceptor outer segments by the retinal pigment epithelium (RPE) and retinal degeneration.

RPE

retinal degeneration


Input: We have immunostained a large group of ductal carcinoma in situ and invasive breast carcinomas using a monoclonal antibody (5ST-4A9) raised against the hemopexin-like domain of human ST3.

hemopexin

ductal carcinoma in situ


Input: Through mass screening of newborn infants, we identified a novel and prevalent GALK variant (designated here as the " Osaka " variant) associated with an A198V mutation in three infants with mild GALK deficiency.

GALK

GALK deficiency

GALK

GALK deficiency


Input: In HeLa cells, RNA interference-mediated downregulation of PINK1 results in abnormal mitochondrial morphology and altered membrane potential.

abnormal mitochondrial morphology


Input: Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features.

autistic features

autistic features


Input: AD appears to have a heterogeneous etiology with a large percentage termed sporadic AD arising from unknown causes and a smaller fraction of early onset familial AD (FAD) caused by mutations in one of several genes, such as the beta-amyloid precursor protein (APP) and presenilins (PS1, PS2).

FAD

sporadic


Input: We propose that IRS-2 is needed to maintain the predominance of bone formation over bone resorption, whereas IRS-1 maintains bone turnover, as we previously reported; the integration of these two signalings causes a potent bone anabolic action by insulin and IGF-I.

IGF-I

bone resorption


Input: Our data suggest that the common germline BRCA1 and BRCA2 mutations are infrequently encountered in sporadic breast cancers.

sporadic


Input: Unexpectedly, TS patients may develop recurrent infections and bronchitis that suggests a role of CaV1. 2 channel in the immune system.

CaV1. 2

bronchitis


Input: Microsatellite instability (MSI) due to defective DNA mismatch repair (MMR) is a form of genomic instability underlying the tumorigenesis of various human neoplasms.

MMR

tumorigenesis


Input: We investigated the associations between Wnt5a and the early development of cigarette smoke related lung cancer using human bronchial epithelial (HBE) cells (NHBE, BEAS-2B, 1799, 1198 and 1170I) at different malignant stages established by exposure to cigarette smoke condensate (CSC).

lung cancer

lung cancer


Input: In this study, we investigated the relative levels of the sterol transporters ABCA1, ABCG5, and ABCG8 in human gallbladders in CAGD, and the relationship between ABCA1 and inflammation.

inflammation


Input: FMO3 genotype and allele frequency was not significantly associated with auditory hallucinations or delusions.

delusions


Input: We thus sought to evaluate whether the HCRTR2 G1246A polymorphism is associated with the risk for migraine.

migraine


Input: Suggesting that polymorphism in the MTHFR gene was involved in chromosome abnormalities of leukemia.

MTHFR gene

chromosome abnormalities


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

CAC

coronary artery calcification


Input: To study the frequency of Factor V Leiden (FVL), prothrombin gene mutation G20210A and methylenetetrahydrofolate reductase C677T in patients with acute pulmonary embolism (PE); and to investigate whether these factors are more frequent in patients who have no obvious risk factors for venous thrombo-embolism compared to those with obvious risk factors.

methylenetetrahydrofolate reductase

acute pulmonary embolism


Input: A 68-year-old man presented with hemiparesis, lymphocytosis, and cerebral lesions on MRI.

MRI

lymphocytosis


Input: Isolation and amino acid sequence of a chemotactic protein, LECT/interleukin 8, from a human myeloid leukemia cell line, ML-1.

myeloid leukemia


Input: The results suggested that cyclin D1 was involved in the earlier event and accumulated as the cancer evolved to a later stage in some esophageal carcinomas.

cyclin D1

esophageal


Input: Resistance to DSS-induced colitis was lost when wild-type (wt) BM was used to reconstitute iNOS-/-mice.

iNOS

colitis

iNOS

colitis


Input: Impaired virus killing is suggested by lower CD16 + (35/microl versus 107/microl; P = 0. 016), higher CD3 + DR + (178/microl versus 66/microl; P = 0. 006), and higher CD8 + DR + (142/microl versus 34/microl; P = 0. 017) cell counts in IC (-) patients compared to IC-patients without detectable viral load.

viral load


Input: Activated T helper (Th)-1 pulmonary CD4 + cells and their mediators are essential for the inflammation and granulomatous process in sarcoidosis.

sarcoidosis


Input: While patients with partially controlled viremia and poor CD4 T cell reconstitution manifested poor proliferative responses to anti-CD3 or HIV gag antigen stimulation, proliferative responses to Cgamma chain utilizing cytokines IL-2, IL-7, and IL-15 were robust.

viremia


Input: Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.

X-linked adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita


Input: Oxr1 is essential for protection against oxidative stress-induced neurodegeneration.

neurodegeneration


Input: Since TGF-beta' s prometastatic role may be linked to its ability to induce tumor cell epithelial-to-mesenchymal transition (EMT), we explored TGF-beta' s EMT-promoting pathways by analysing the transcriptome changes occurring in BRI-JM01 mammary tumor epithelial cells undergoing a TGF-beta-induced EMT.

EMT

mammary tumor


Input: In order to advance our knowledge towards establishing genotype-phenotype correlations in Farber' s disease, detailed analysis of the ASAH1 gene is needed.

Farber' s disease

Farber' s disease


Input: Set/TAF-Ibeta was co-precipitated with glucocorticoid response elements (GREs) of these promoters in the absence of dexamethasone, while addition of the hormone caused dissociation of Set/TAF-Ibeta from and attraction of the p160-type coactivator GRIP1 to the promoter GREs.

TAF-Ibeta

dissociation


Input: The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI, has the potential to provide new insights into the roles of metal transport in visual function and biomineralization.

Jalili syndrome

Jalili syndrome


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: A loss-of-function mutation in DAG1 can result in Walker-Warburg syndrome and is not embryonic lethal.

Walker-Warburg syndrome

Walker-Warburg syndrome


Input: Mice receiving SOD2-MSCs showed progressive reduction in body weight and improved glucose tolerance (GTT) at 4 weeks, post MSCs transplantation compared to the GFP-MSC group (control).

body weight


Input: REDD1 mutants that fail to bind 14-3-3 are defective in eliciting TSC2/14-3-3 dissociation and mTORC1 inhibition, while TSC2 mutants that do not bind 14-3-3 are inactive in hypoxia signaling to mTORC1.

hypoxia


Input: To investigate whether this is a common finding in MFH, microsatellite instability and nuclear MSH2 protein staining was tested for in 5 and 6 sporadic MFHs, respectively.

sporadic


Input: We analyzed for LINE-1 hypomethylation and hypermethylation at 7 CIMP-specific CpG islands (CACNA1G, CRABP1, IGF2, MLH1, NEUROG1, RUNX3 and SOCS1); microsatellite instability (MSI); KRAS, BRAF and PIK3CA mutations; and expression of TP53 (p53), CTNNB1 (β-catenin), CDKN1A (p21), CDKN1B (p27), CCND1 (cyclin D1), FASN (fatty acid synthase) and PTGS2 (cyclooxygenase-2).

cyclin D1

microsatellite instability


Input: The data show that in CRF (a) the mRNA of hepatic lipase is downregulated, and hepatic lipase production, activity and release are impaired, (b) that this is due to the state of secondary hyperparathyroidism of CRF since both acute and chronic excess of PTH were associated with these abnormalities, (c) and that prevention of excess PTH by PTX of CRF rats or blocking the effect of PTH by treatment with verapamil corrected the derangement in hepatic lipase metabolism.

hepatic lipase

secondary hyperparathyroidism


Input: To report mutations of PRRT2 in BFIS, infantile convulsions and choreoathetosis (ICCA), and in sporadic cases affected by benign infantile epilepsy (BIE).

sporadic


Input: There was a statistically significant difference in CD99 expression (p = 0. 0013) and EWS/FLI1 translocation (p = 0, 002) between cPNETs and ESFTs cases.

EWS

translocation


Input: Vaccination of mice with protein transferred GPI-HER-2-VLPs induced a strong Th1 and Th2-type anti-HER-2 antibody response and protected mice against a HER-2-expressing tumor challenge.

GPI

tumor


Input: PTPRO-mediated autophagy prevents hepatosteatosis and tumorigenesis.

PTPRO

tumorigenesis


Input: The location of mutations within the p53 gene was found to be similar to that of somatic mutations in sporadic tumors.

p53 gene

sporadic


Input: The biologic characteristics of the two human giant-cell lung carcinoma strains with high (strain D) and low metastatic potential (strain C) were studied, including karyotype of chromosome, intracellular free calcium ([Ca2 +] i), morphologic changes of cell surface and the expression of nm23-H1, p53, ras, c-myc, c-erbB2, bcl-2 genes and PCNA.

lung carcinoma


Input: Three hypoxia-related microRNAs, hsa-miR-210, hsa-miR-21, and hsa-miR-10b, were measured in 46 samples from patients with HNSCC.

hypoxia


Input: Development of effective new therapies for distinctive manifestations, e. g., a high rate of malignancy in SDHB-or predisposition to multifocal PGLs in SDHD patients, mandates improved stratification.

PGLs

malignancy


Input: Indications of linkage between familial pure depressive disease and MNS and depression spectrum disease and ORM were found, as had been previously suggested.

MNS

depression

MNS

depression


Input: Phosphorylated Smad2 increased within the ischemia-reperfusion region.

ischemia


Input: Surprisingly, in lung adenomas Cx32 and Cx43 expressions were not detected, although the expression of connexins 26 and 46 was present.

adenomas

adenomas


Input: Reduced activity of ferrochelatase in erythropoietic protoporphyria (EPP) results in protoporphyrin (PP) accumulation in erythrocytes and liver.

ferrochelatase

erythropoietic protoporphyria

ferrochelatase

erythropoietic protoporphyria


Input: Nine subjects are described with the clinical features of the Pitt-Rogers-Danks (PRD) syndrome confirming pre-and postnatal growth failure, microcephaly, severe mental retardation, seizures, and a distinctive facial appearance; a deletion of 4p16. 3 was seen in all eight patients studied with fluorescence in situ hybridisation (FISH).

PRD

severe mental retardation


Input: Over 30 mutations have been described in the DTDST gene, which result in a continuous clinical spectrum of recessively inherited chondrodysplasias, including, in order of increasing severity, a recessive form of multiple epiphyseal dysplasia (rMED), diastrophic dysplasia (DTD), atelosteogenesis type II (AO-II) and achondrogenesis 1B (ACG-1B).

ACG

diastrophic dysplasia


Input: This study assessed gene mutations (factor V Leiden, prothrombin G20210A, plasminogen activator inhibitor, methylenetetrahydrofolate reductase) and serologic thrombophilias (high levels of factors VIII and XI, homocysteine, anticardiolipin immunoglobulin G and immunoglobulin M antibodies, and lupus anticoagulant; low antigenic protein C, S, and free S; and antithrombin III deficiency).

methylenetetrahydrofolate reductase

lupus anticoagulant


Input: CD4 (+) FOXP3 (+) gingival T-cell clones were established from three patients with advanced periodontitis by using immunomagnetic beads.

periodontitis


Input: We have investigated the expression of RAGE in the moderate hypoxic-ischemic (HI) rat brain injury model in order to determine if this receptor is involved in the cellular perturbation mediated by ischemic stress.

RAGE

hypoxic


Input: The absence of polymorphisms in ADRB3, UCP1, PPARγ, and ADIPOQ genes protects morbid obese patients toward insulin resistance.

insulin resistance


Input: Our study demonstrated that PTOV1 overexpression is correlated with increased aggressiveness of HCC and could be a prognostic biomarker for patients with HCC.

HCC

aggressiveness


Input: Mutational analysis of the PS2 cleavage site indicates that the principal endoproteolytic cleavage occurs at residues Met-298/Val-299 and that the N terminus is subsequently modified by secondary proteolytic cleavages.

secondary


Input: We also evaluated differences in risk by estrogen receptor (ER) and progesterone receptor (PR) status in tumors, and the potential modification of the smoking association by N-acetyl transferase 2 (NAT2) genotype.

smoking


Input: In addition, no significant association was detected between the reconstructed PTTG1 haplotypes and pituitary adenoma cases or the controls.

pituitary adenoma


Input: Herein, we sought mutations in six consanguineous BS families and detected changes in either PLOD2 or FKBP10 in all cases.

BS

BS


Input: Subcutaneous and intracranial GBM xenografts were generated using 3 established astrocytoma cell lines (U87, U373, and U343) that were transfected to stably over-express Ang1.

astrocytoma


Input: Furthermore, there was a higher level of nTregs in brain tumors that expressed the proliferative marker Ki67 compared with iTregs and conventional CD4 (+) T cells.

brain tumors


Input: Using suppression subtractive hybridization and a microarray analysis to identify drug resistance-associated DNA repair-related genes, we found that the mRNA levels of ERCC1, MSH-3, MSH-6 and XPC were significantly increased in LADC patients.

LADC

LADC


Input: We found that the induction of some Hsps but not others was profoundly altered in scrapie-infected cells and that the distribution of Hsp73 is unusual in these cells.

scrapie


Input: In asthmatic patients, elevated levels of interleukin-4 and up-regulated Bcl-2 expression were detected.

asthmatic

asthmatic


Input: We tested the hypothesis that sEHi could reduce the occurrence of ACS by regulating FAS.

FAS

ACS

FAS

ACS


Input: Lysyl oxidase-like 4 is alternatively spliced in an anatomic site-specific manner in tumors involving the serosal cavities.

Lysyl oxidase-like 4

cavities


Input: We find that the uncoupling of ER stress and insulin resistance in KLF15 (-/-) liver is associated with the maintenance of a low energy state characterized by decreased mTORC1 activity, increased AMPK phosphorylation and PGC-1α expression and activation of autophagy, an intracellular degradation process that enhances hepatic insulin sensitivity.

insulin sensitivity


Input: The disruptive nature of two mutations (i. e., the frameshift and the nonsense mutation) in patients with biochemically proved childhood ALD and AMN further strongly supports the hypothesis that alterations in this gene play a crucial role in the pathogenesis of X-ALD.

ALD

X-ALD

ALD

X-ALD


Input: To avoid selection bias, we confined analysis of total and free protein S levels and thrombotic risk to the patients' relatives.

protein S

thrombotic

protein S

thrombotic


Input: Moreover, upregulation of FOXA2 suppressed HCC metastasis to bone, brain and lung in two distinct mouse models.

metastasis to bone


Input: Pathway analysis revealed significant upregulation of genes involved in G-protein coupled receptor signalling and response to stimulus (in particular the immune response), while genes relating to the ubiquitin cycle and intracellular transport showed coordinated downregulation in bipolar disorder.

G-protein coupled receptor

bipolar disorder

G-protein coupled receptor

bipolar disorder


Input: Recently, PAR-1 has been described to regulate the gap junction protein Connexin 43 and the tumor suppressor gene Maspin to promote the metastatic melanoma phenotype.

Connexin 43

metastatic melanoma


Input: Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.

aminolevulinate dehydratase

acute hepatic porphyria

aminolevulinate dehydratase

acute hepatic porphyria


Input: Recently, the IL-6 promoter polymorphism, at position-174 (G > C), has been associated to insulin sensitivity although contrasting data have been reported.

insulin sensitivity


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

CGRP

Down syndrome

CGRP

Down syndrome


Input: Mutations in the gene encoding the gamma2 subunit of AMP-activated protein kinase (PRKAG2) cause familial cardiac hypertrophy and electrophysiological abnormalities, with glycogen accumulation in the heart of affected patients.

cardiac hypertrophy


Input: These alterations were followed by inflammation; release of profibrogenic factors, such as IL-4, insulin-like growth factor 1, and CXCL5; progressive fibrosis; and premature mortality.

inflammation


Input: The BCL3 gene was identified on chromosome 19 adjacent to the breakpoint of the translocation, and has been proposed to be a candidate proto-oncogene which may play a role in leukemogenesis.

BCL3 gene

translocation


Input: We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4.

autistic

autistic


Input: While NAT2-smoking interaction gave an odds ratio of only 1. 70 (p = 0. 117), a disproportionate number of cancer cases were genotypically rapid: 12 of 17 cancer cases vs. 13 of 34 controls (odds ratio 3. 88; p = 0. 040).

smoking


Input: ACE regulates the synthesis of endothelial nitric oxide (NO), which modulates autonomic nervous activity involved in the development of AF.

ACE

nervous


Input: The ETV6/GOT1 fusion, resulting from t (10; 12) (q24; p13), has been recently described in a myelodysplastic syndrome.

myelodysplastic syndrome


Input: These findings suggest that aberrantly expressed CARM1 in tumor marker-positive cells promotes tumorigenesis in the early stages of hepatocarcinogenesis.

tumorigenesis


Input: Moreover, LV-LMP-1 abrogated TNF-α induced MMP-3 and MMP-13 expression via inhibiting p65 translocation and MMP-3 and MMP-13 promoter activity.

TNF-α

translocation


Input: IL-6 and IL-11 as markers for tumor aggressiveness and prognosis in gastric adenocarcinoma patients without mutations in Gp130 subunits.

aggressiveness


Input: Previous study of transgenic mice with long-term expression of pleiomorphic adenoma gene-like 2 (PLAGL2), a surfactant protein C (SP-C) transactivator, in type II cells showed the manifestation of centrilobular emphysema in vivo.

adenoma


Input: Germline mutations of BRCA2 and NBS1 genes cause inherited recessive chromosomal instability syndromes and predispose to prostate cancer of poor prognosis.

chromosomal instability


Input: The enhanced aggressiveness was based on MVP-mediated stabilization of the epidermal growth factor receptor (EGFR)/phosphatidyl-inositol-3-kinase (PI3K) signalling axis.

aggressiveness


Input: The present study examined whether SPP1 gene polymorphisms are associated with total serum IgE levels, atopy and asthma in a Japanese population.

SPP1 gene

atopy


Input: Overall, our findings implicate the neuronal leucine-rich genes LRRN3 and LRRTM3 in ASD susceptibility.

ASD

ASD


Input: These data suggest that one of the important mechanisms of triggering myocardial stunning is diastolic Ca (2 +) overload caused by activation of the reverse mode of NCX of cardiomyocytes during the initial period of reperfusion following brief ischemia.

NCX

myocardial stunning


Input: CCN3, acting downstream of TGF-beta to block CCN2 and the up-regulation of ECM, may therefore serve to naturally limit fibrosis in vivo and provide opportunities for novel, endogenous-based therapeutic treatments.

ECM

fibrosis


Input: To evaluate a possible association between wrist and periodontal destruction in rheumatoid arthritis, and between periodontal destruction, dry mouth, and labial salivary gland biopsy and the contribution of genetic factors (the shared epitope (SE) and IL1B (+ 3954) or TNFA (-238 or-308) gene polymorphisms).

dry mouth


Input: We found that the length of telomere DNA decreased and hTERT protein expression increased in the carcinogenesis of esophageal epithelial cells; telomerase activity was significantly upregulated followed by a decrease of PinX1 expression in esophageal carcinoma compared with dysplasia and normal patients, which notably correlated with grade and lymph node metastasis.

esophageal


Input: We then used short hairpin RNA to knock down NLRC3 expression in HCC cell lines and evaluated its effect on cell proliferation and apoptosis.

HCC

HCC


Input: Among the earliest genetic events are translocations of the immunoglobulin heavy-chain gene locus, which leads to dysregulation of oncogenes at translocation partner regions (cyclin D1 at 11q13, FGFR3/MMSET at 4p16. 3, c-MAF at 16q23, and cyclin D3 at 6p21), and deletions of 13q14, the site of a putative tumour suppressor gene, which is an adverse prognostic indicator.

MAF

translocation


Input: Initial analysis suggested that several SNPs in the FTO and PFKP genes were associated with increased BMI, hip circumference, and weight.

PFKP

weight


Input: In this study, we examined the relation among C3, C-reactive protein (CRP), factor B, and features of the insulin resistance (IR) syndrome in 143 first-degree relatives of South Asian subjects with ischemic stroke, 141 South Asian controls, and 121 white controls.

CRP

insulin resistance


Input: Developmental abnormalities in mouse embryos lacking the HDL receptor SR-BI.

SR-BI

abnormalities


Input: Both our patients had additional bilateral cryptorchidism, a key phenotypic feature in males with FGF8 associated Kallmann syndrome.

bilateral cryptorchidism


Input: In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features, behavioral abnormalities, and variable dysmorphisms.

behavioral abnormalities

behavioral abnormalities


Input: The goal of the present study was to investigate the role of connective tissue growth factor (CCN2/CTGF), a profibrotic cytokine of the CCN (Cyr61, CTGF, and Nov) family, and its functional interactions with brain natriuretic peptide (BNP), an antifibrotic peptide, in the development of myocardial fibrosis and diastolic heart failure.

CTGF

myocardial fibrosis


Input: Upregulation of microRNA 21 (MIR21) and DICER1 transcripts suggests roles for microRNAs (miRNAs) in the pathogenesis of severe versus mild endometriosis, potentially through regulation of gene silencing and epigenetic mechanisms.

endometriosis

endometriosis


Input: These findings suggest that HDAC6-mediated reversible acetylation might contribute to maintain proper neuronal activity in serotonergic neurons, and also provide a new therapeutic target for depression.

depression

depression


Input: Tripartite motif (TRIM)-62 is a putative tumor suppressor gene whose role in leukemia is unknown.

TRIM

leukemia


Input: Herein we report that a panel of serotype-matched GAS, which were clinically isolated from severe invasive but not from non-invaive infections, could abrogate functions of human polymorphnuclear neutrophils (PMN) in at least two independent ways; due to inducing necrosis to PMN by enhanced production of a pore-forming toxin streptolysin O (SLO) and due to impairment of PMN migration via digesting interleukin-8, a PMN attracting chemokine, by increased production of a serine protease ScpC.

SLO

necrosis


Input: This type of mutation is the same as those found in two Japanese XPA patients with mild clinical symptoms.

XPA

mild


Input: r the TC C776G polymorphism has a significant effect on the hematological and neurological manifestations of B12 deficiency or on vascular and other morbidities associated with hyperhomocysteinemia.

neurological manifestations


Input: A microRNA, miR-34b, that suppresses the expression of & #945; 4 through specific binding to the 3'-untranslated region of & #945; 4 is downregulated in transformed or human lung tumors.

lung tumors

lung tumors


Input: PHC patients with hypersplenism who displayed elevated levels of alanine transaminase (ALT), aspartate transaminase (AST), γ-glutamyltransferase (GGT), ALK, phosphatase, and prolonged prothrombin time (PT) had a significantly increased risk of HCC.

AST

hypersplenism


Input: Encapsulation in hollow fibres of xenogeneic cells engineered to secrete IL-4 or IL-13 ameliorates murine collagen-induced arthritis (CIA).

collagen-induced arthritis

collagen-induced arthritis


Input: We here show that genetic ablation of keratin 17 (Krt17) protein, which is induced in basaloid skin tumors and co-polymerizes with Krt5 in vivo, delays basaloid follicular hamartoma tumor initiation and growth in mice with constitutive Hh signaling in epidermis.

tumor initiation


Input: Moreover, myosin light chain phosphorylation, a determinant of SMC tone, was higher in PASMCs isolated from SM22α-HIF-1α (-/-) mice compared with wild-type PASMCs, during both normoxia and after acute hypoxia.

SMC

hypoxia


Input: Chlamydia trachomatis modulates expression of tumor suppressor gene caveolin-1 and oncogene C-myc in the transformation zone of non-neoplastic cervical tissue.

C-myc

non-neoplastic


Input: Clinically visible conjunctival inflammation was associated with increased S100A7, IL1B, CXCL5, MMP9 and MMP12 expression.

inflammation


Input: Allelic variation of the 5-HT2C receptor (HTR2C) in bulimia nervosa and binge eating disorder.

binge eating disorder


Input: p53 mutations and microsatellite instability in sporadic gastric cancer: when guardians fail.

sporadic


Input: In secondary analyses among Parkinson disease subjects with GBA mutations, maximal area of nigral echogenicity did not differ based on GBA mutation severity or mutation number.

GBA

secondary


Input: These findings suggest that cells responding to estrogen will proliferate despite impaired in DNA2 activity, potentially promoting genomic instability and triggering cancer development.

genomic instability


Input: Most cases harbor the (11; 22) (q24; q12) chromosomal translocation that encodes the EWS/FLI oncoprotein.

EWS

chromosomal translocation


Input: By contrast, Ccdc11 localizes exclusively to the basal bodies of cilia within Kupffer' s vesicle, the organ of laterality of teleost fishes, and within the spinal canal.

laterality


Input: For example, in an acetaminophen (APAP)-induced hepatocellular injury model, plasma let-7b-5p was up-regulated as early as 3 & #8201; h after dosing, whereas a significant change in ALT level was observed at 12 & #8201; h. We then focused on the DILI type-specific miRNAs in plasma that were up-regulated at the early stage of injury.

DILI

DILI


Input: To address these issues, we studied 17 patients with plasma cell dyscrasias (16 MM, 1 plasmacytoma) by Southern blotting using the major breakpoint region (MBR), minor cluster region (MCR), and 5' cDNA (pB16) BCL2 breakpoint probes; with the BCL1 major translocation cluster (MTC) breakpoint probe; and with a probe to the MYC-associated MLVI-4 region (PA1. 3SB).

MYC

plasma cell dyscrasias


Input: Chronic infusion of IGF1 alone had no effect on any of these parameters, but coinfusion of IGF1 with the antagonist completely reversed JB-1 effects on food intake and estrous cyclicity and partially reversed the effects on body weight.

body weight


Input: Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).

EMARDD

EMARDD


Input: Expression of GLUT-1 and transglutaminase 2 is increased in aggressive breast cancer, whereas claudin-1, which is expressed in normal tissues, is absent in such tumors.

breast cancer

breast cancer


Input: The current results indicated that CRM1 expressed in a subpopulation of GC with aggressive behavior and could serve as a prognosis marker for poor outcome.

aggressive behavior


Input: Moreover, MCPIP1 induction in vivo resulted in complete regression of established tumors and a significant reduction in metastatic disease.

regression


Input: MR-1 was up-regulated at both mRNA (5. 459 ± 0. 639 vs 1. 233 ± 0. 238, P < 0. 001) and protein levels (34. 2% vs 13. 2%, P = 0. 003) in gastric cancer tissues.

gastric cancer


Input: Expression of CXCL17, CXCL10, CXCL9 and CCL2 was assessed in primary colon cancer tumours, colon carcinoma cell lines and normal colon tissue at mRNA and protein levels by real-time qRT-PCR, immunohistochemistry, two-colour immunofluorescence and immunomorphometry.

colon carcinoma


Input: Metastatic lymph nodes were frequently more positive for HBB compared to the corresponding primary tumors, whereas BO metastases had a lower expression than BV metastases, suggesting a positive correlation between HBB and ability of bone metastasis to rapidly spread to other organs.

HBB

bone metastasis


Input: The copper content of areca nut is high and the possible role of copper as a mediator of fibrosis is supported by the demonstration of up regulation of lysyl oxidase in OSF biopsies.

OSF

fibrosis


Input: NAT2 slow acetylation status was not associated with risk among never (1. 04; 0. 71-1. 51), former (0. 95; 0. 75-1. 20) or current smokers (1. 33; 0. 91-1. 95); however, a relationship emerged when smoking intensity was evaluated.

smoking


Input: Using a segmental allergen challenge model, we have examined the in vivo expression of IL-13 in the bronchoalveolar lavage (BAL) cells of atopic patients.

atopic


Input: Interestingly, Egr2 (I268N/I268N) mutant mice maintain normal weight and have only mild tremor until 2 weeks after birth, at which point they rapidly develop worsening weakness and uniformly die within several days.

mild


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).

PACAP

cerebral palsy


Input: The D52-86 is associated with varied phenotypes including pulmonary disease (pulmonary fibrosis) as the first presentation.

pulmonary fibrosis


Input: The defining cytogenetic abnormality of Ewing' s sarcoma is the presence of a balanced t (11; 22) translocation expressing the EWS/FLI-1 chimeric fusion protein.

EWS

translocation


Input: These findings imply AP4 as a new regulator of EMT that contributes to metastatic processes in CRC and presumably other carcinomas.

carcinomas


Input: Our recent microarray analysis suggested downregulation of three fibulins, FBLN1, FBLN4, and FBLN5, in prostate cancer, while two further ECM genes, SPOCK1 (testican) and TENC (tenascin C), appeared upregulated or unchanged.

prostate cancer

prostate cancer


Input: Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

6q terminal deletion syndrome

6q terminal deletion syndrome


Input: Defects of Chk2 occur in subsets of diverse sporadic malignancies and predispose to several types of hereditary carcinomas.

sporadic


Input: To distinguish this subset of affected individuals from the DRPLA diagnosis, we suggest using the term CHEDDA (congenital hypotonia, epilepsy, developmental delay, digit abnormalities) to classify the condition.

CHEDDA

hypotonia

CHEDDA

hypotonia


Input: It included five genes: CETN3, AC093510. 2, POLR3G, LYSMD3 and the proximal part of GPR98/MASS1, a known epilepsy gene.

epilepsy


Input: The study provides evidence for significant changes of expression of AT1aR mRNA, V1aR mRNA and NOS1 mRNA in the specific brain regions of rats with the renovascular hypertension.

renovascular hypertension


Input: A statistically significant effect was seen for SULT1A2 genotype on a 24DNT Hb-adduct; GSTP1 genotype on a 2, 4, 6-trinitrotoluene Hb-adduct; and SULT1A1, SULT1A2, NAT1, GSTT1, and GSTP1 genotypes on chromosomal aberrations in the exposed workers.

chromosomal aberrations

chromosomal aberrations


Input: Our finding of a pathogenic MOG mutation highlights a major role for myelin and oligodendrocytes in narcolepsy and further emphasizes glial involvement in neurodegeneration and neurobehavioral disorders. [corrected].

MOG

narcolepsy

MOG

narcolepsy


Input: Here we report that 89% of RED products (CAG/CTG repeats) & gt; 120 nt (n = 202) detected in affective disorder patients as well as unaffected family members and controls correlate with expansions at two repeat loci, ERDA1 on chromosome 17q21. 3 and CTG18. 1 on 18q21. 1.

affective disorder

affective disorder


Input: The aims of this study are to learn if NCTD has a protective action against severe proteinuria and consequent interstitial inflammation and fibrosis, and if the inhibition of nuclear factor-kappaB (NF-kappaB) and connective tissue growth factor (CTGF) by NCTD might be involved.

NF-kappaB

proteinuria


Input: The human SP4 gene is therefore examined for its association with both bipolar disorder and schizophrenia in European Caucasian and Chinese populations respectively.

bipolar disorder

bipolar disorder


Input: Specifically, the expression of LOX and HIF-1α markedly increases under hypoxic conditions and decreases after reoxygenation.

LOX

hypoxic


Input: This study selected 25 single nucleotide polymorphisms in 23 loci identified from recently published kidney-related genome-wide association studies in individuals of European ancestry to evaluate their associations with kidney function (estimated GFR; individuals 18 years or older, up to 3282 individuals) and albuminuria (urinary albumin to creatinine ratio; n = 3552) in the Strong Heart Family Study.

GFR

albuminuria


Input: To assess the extent of functional conservation we have tested the capacity of a human DAZ gene contained in a 225-kb yeast artificial chromosome to complement the sterile phenotype of the Dazl null mouse (Dazl-/-), which is characterized by severe germ-cell depletion and meiotic failure.

DAZ

sterile


Input: A locus on 1p35-36 (RSMD1) was recently found to segregate with rigid spine muscular dystrophy 1 (ref. 1).

rigid spine muscular dystrophy 1

rigid spine muscular dystrophy 1


Input: We demonstrate mitochondrial localization of PANK2 and speculate on mechanisms of secondary iron accumulation in PKAN.

secondary


Input: Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2).

Microcytic anemia and hepatic iron overload

Microcytic anemia and hepatic iron overload


Input: We examined four different families and two sporadic cases and detected missense sequence variants in SCN9A to be present in primary erythermalgia patients.

primary erythermalgia

primary erythermalgia


Input: We studied whether CXCR4-MIF associations occur in rat bladder and the effect of experimental cystitis.

MIF

cystitis


Input: Overexpression of soluble biglycan in MRL/lpr mice raised plasma and renal levels of CXCL13 and caused accumulation of B cells with an enhanced B1/B cell ratio in the kidney, worsening of organ damage, and albuminuria.

biglycan

albuminuria


Input: In summary, KGF increases pigment production and deposition in vitro and in vivo.

KGF

pigment


Input: Enpp2 (+/-) mice and adipocyte-specific Enpp2 knockout mice fed a high-fat diet showed smaller body weight gains and less insulin resistance than control mice fed the same diet.

insulin resistance


Input: When the HCC was smaller, the L-FABP-negative area often corresponded to a " nodule-in-nodule " appearance.

HCC

nodule


Input: NAT2 activity may be particulary critical in smoking related hepatocarcinogenesis.

smoking


Input: We conclude that differential regulation of RA, TGFB and PR pathway transcription occurs in fibroid-associated SMC and-fibroblasts and that investigation of paracrine interactions between different cell types within the fibroid microenvironment provides an important new paradigm for understanding the pathophysiology of this common disease.

SMC

fibroid


Input: CDK2 has been implicated in maintenance of gonadal homeostasis, as knockout mice display reproductive abnormalities.

abnormalities


Input: Immunofluorescent labelling of paxillin and vinculin, another component of focal contact, revealed that these structures were conserved upon serum starvation when MARCKS was overexpressed but not in the control cells.

MARCKS

starvation


Input: Humans with FSH beta gene mutations tend to have a more severe phenotype than those with FSHR gene mutations, although infertility and varying degrees of impaired sex steroid production occur in both types of mutations.

FSHR gene

infertility


Input: In patients with critical limb ischemia, the increase in Cp concentration and activity correlated significantly with CRP concentration (r = 0. 46; P = 0. 0007) (r = 0. 62; P = 0. 0001), respectively.

Cp

ischemia

Cp

ischemia


Input: Therefore, we analyzed clinicopathological characteristics, microsatellite instability (MSI), and expression of MUC1, MUC2, MUC5AC mucin core proteins, and p53 by immunohistochemistry in relation to tumor location.

microsatellite instability


Input: For EGFR IHC, 20, 11, 11 and 17 cases showed a negative, a low, an intermediate or a high staining level, respectively, and seven cases showed gene amplification by FISH, with two, 19, 11 and 20 cases showing balanced monosony, disomy, trisomy, and polysomy respectively.

EGFR

trisomy


Input: Interestingly, the up-regulation of miR-23a and down-regulation of miR-106b in this study reflected miRNA changes previously reported in post-mortem autistic cerebellum by Abu-Elneel et al. in 2008.

autistic

autistic


Input: SREBP isoforms expression was assessed in lean and obese rat fat cells and showed no differences in the level of ADD1/SREBP1 mRNA.

obese


Input: Sall1 is expressed in the metanephric mesenchyme in the developing kidney, and mice deficient in Sall1 show kidney agenesis or dysgenesis.

agenesis


Input: The new findings add to an emerging pattern of SFD mutations which all seem to affect the C-terminal region of the mature TIMP3 protein.

SFD

SFD


Input: We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).

ADCA

hereditary sensory and autonomic neuropathy


Input: Some of these mutated genes (ADCY9, ADCY2, GNB5, K-ras, HDAC6 and ARHGEF17) also belong to the' Phospholipase C Signaling' network, which suggests that this pathway and its mutated genes may contribute to a lung metastasis from colon cancer.

lung metastasis


Input: Thus, we conclude that mutations in the Myoclonin1/EFHC1 gene are an important cause of JME in Mexican patients.

JME

JME


Input: Indomethacin and ASA, which suppressed PGE (2) generation both in the non-ulcerated and ulcerated gastric mucosa, significantly delayed the rate of ulcer healing and this was accompanied by the fall in GBF at ulcer margin and further elevation of plasma IL-1beta and TNFalpha levels, which was sustained up to the end of the study.

GBF

fall


Input: Interestingly, the expression of presenilin-1 in human U87 MG astrocytoma and human SK-N-SH neuroblastoma cells is only increased when cells are treated with glial cell line-derived neurotrophic factor or transforming growth factor-beta3.

neuroblastoma


Input: The t (8; 16) (p11; p13) translocation, associated with poor prognosis acute monocytic leukemia, fuses MYST3 on chromosome region 8p11 to CBP on chromosome region 16p13.

acute monocytic leukemia


Input: We also show that NF-κB is a central player in MDV induced neoplastic transformation of CD30-expressing lymphocytes in vivo.

neoplastic transformation


Input: We conclude that EPB41L3, RASSF2 and TSP-1 genes are involved in the pathogenesis of diffuse gliomas, and that EPB41L3 and TSP-1 hypermethylation are of prognostic significance.

gliomas


Input: Gabexate mesilate treatment also significantly improved survival rate after a lethal dose of CCl4 (0. 5 ml/100 g rat weight) from 0% to 20%.

weight


Input: Pure SPG is characterised by progressive spasticity and weakness of the lower-limbs, and occasionally sensory disturbances or bladder dysfunction.

SPG

progressive spasticity


Input: A novel missense mutation in LHCGR, p. N400S, was homozygous in sisters with EFS and/or infertility, but not in their unaffected siblings or parents.

EFS

infertility


Input: Notably, Bmp6-null mice have a phenotype resembling hereditary hemochromatosis, with reduced hepcidin expression and tissue iron overload.

hemochromatosis

hemochromatosis


Input: GLUT2 mutations, translocation, and receptor function in diet sugar managing.

translocation


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

WWOX

dementia

WWOX

dementia


Input: These results suggest OLFM4 is downregulated by miR-486-5p, which contributes to ovarian cancer tumorigenesis.

tumorigenesis


Input: To our knowledge, this is a new AICDA mutation found in HIGM2 patients.

AICDA

AICDA


Input: This study investigates the role of PGC-1α during normal and pathological vascularization in the retina.

vascularization


Input: GSPE also significantly reduced the expression levels of TNF-α, p-IKKα/β, p-IκBα and the translocation of NF-κB in the colon mucosa.

TNF-α

translocation


Input: Unlike the non-tumoral controls, PRND was aberrantly expressed in glioblastoma multiforme and in two glioblastoma multiforme-derived cell lines, even in the absence of the PRND gene amplification.

PRND gene

glioblastoma multiforme


Input: Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

Martsolf syndrome

Martsolf syndrome


Input: The type 2 diabetes susceptibility alleles at HHEX-IDE and CDKAL1 loci are associated with low BMI at age 8 years in children who were born large for gestational age.

IDE

large for gestational age


Input: Upregulation of NFATc2 with concomitant downregulation of KV1. 5 channels may contribute to abnormal vascular remodeling resulting in PH in this model.

PH

PH


Input: The objective of this study is to examine the relationship among serum levels of 25-hydroxyvitamin D (25 [OH] D), polymorphisms in vitamin D-associated genes, and the presence and progression of coronary artery calcification (CAC) in adults with type 1 diabetes.

CAC

coronary artery calcification


Input: These results provide genetic evidence that overexpression of human S100B acts to exacerbate brain damage and periinfarct reactive gliosis (astrocytosis and microgliosis) during the subacute phase of pMCAO.

astrocytosis


Input: Additionally, JMJD2A cooperated with ETV1 to increase expression of yes associated protein 1 (YAP1), a Hippo pathway component that itself was associated with prostate tumor aggressiveness.

aggressiveness


Input: Mutations in the small integral membrane protein of lysosome/late endosome, the myotubularin-related protein 2 (MTMR2), and MTMR13/set-binding factor 2 are involved in vesicle and membrane transport and the regulation of protein degradation.

small integral membrane protein of lysosome/late endosome

vesicle


Input: Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

Marfan syndrome

Marfan syndrome


Input: In contrast, in patients with diverticulitis, an enhanced number of B7-1 and B7-2 and CTLA-4 was observed.

diverticulitis


Input: Older MG (+)-fed mice, similar to old Reg controls, developed MS, increased brain amyloid-β42, deposits of AGEs, gliosis, and cognitive deficits, accompanied by suppressed SIRT1, nicotinamide phosphoribosyltransferase, AGE receptor 1, and PPARγ.

PPARγ

cognitive deficits


Input: In contrast, no association between NAT1 * 10 genotype and 3-or 4 ABP-hemoglobin adduct levels was observed after adjustment for NAT2 phenotype, smoking, and race.

smoking


Input: A limited number of MSH2 and MLH1 mutations have been described for sporadic colorectal cancers.

sporadic


Input: Our data show that PI3Kgamma is critical for the induction of hypertrophy, fibrosis, and cardiac dysfunction function in response to beta-adrenergic receptor stimulation in vivo.

fibrosis

fibrosis


Input: In a cross-sectional, hospital-based setting, we compared the amino acid sequences of NS5A-PKR-binding domain and E2-PePHD in the sera of 104 chronic hepatitis, 44 cirrhosis and 96 HCC patients.

HCC

chronic hepatitis


Input: Myocilin is expressed in the glomerulus of the kidney and induced in mesangioproliferative glomerulonephritis.

Myocilin

glomerulonephritis


Input: The present study was designed to consider whether amino acid substitution polymorphisms in O6-methylguanine-DNA methyltransferase (MGMT) and DNA methyl transferase 1 (DNMT1) genes may be associated with the genetic susceptibility to sporadic colorectal cancer.

sporadic


Input: We investigated whether gene delivery with the human cytochrome P450 epoxygenase 2J2 (CYP2J2) ameliorates monocrotaline (MCT)-induced pulmonary hypertension in rats.

pulmonary hypertension


Input: We isolated rat UCP2 cDNA, which has been proposed to play an important role in mammalian thermogenesis and body weight regulation.

body weight


Input: These findings suggest that structural variations at the PLA2 gene or the chromosomal region around it may confer susceptibility for unipolar affective disorder.

affective disorder

affective disorder


Input: The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region.

DCT

pigmentation


Input: More recently, we have implicated duplications of SOX3 and mutations of both SOX2 and SOX3 in the aetiology of variants of SOD.

SOD

SOD


Input: We show that one intronic SNP in PDCD1 is associated with development of SLE in Europeans (found in 12% of affected individuals versus 5% of controls; P = 0. 00001, r. r.

SLE

SLE


Input: There was a positive correlation between the activating a isoform and liver stiffness and an inverse relationship between the immunosuppressive c isoform and the fibrosis 4 score, suggesting a potentially important role of NKp30 isoforms in influencing liver damage and ensuing fibrosis.

fibrosis


Input: Fraser syndrome (MIM 219000) is a rare genetic disorder with major features including cryptophthalmos, syndactyly, and genital anomalies.

MIM

syndactyly


Input: Interestingly, aberrant alternative splicing of the LMNA gene via the usage of a cryptic splice site has been shown to be the cause of most cases of Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic condition characterized by an accelerated aging phenotype due to the accumulation of a truncated form of lamin A known as progerin.

progerin

aging


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: We determined the distribution of hippocampal FGF-2 and its receptor (FGFR1) mRNA in post-mortem brains of people who suffered from major depression, bipolar disorder and schizophrenia and those of controls.

major depression

major depression


Input: These results show that KCa3. 1 confers an invasive phenotype that significantly worsens a patient' s outlook, and suggests that KCa3. 1 represents a viable therapeutic target to reduce glioma invasion.

KCa3. 1

glioma


Input: The progesterone may down-regulate IGF-I expression through PRB, and PRA appears to inhibit this function of progesterone by inhibiting the transcription of PRB; thus, the action of progesterone on leiomyoma growth may depend on different ratios of PRA and PRB.

PRA

leiomyoma


Input: K-Ras (K-Ras gene) siRNA transfection of EC9706 esophageal squamous carcinoma cells decreased the expression of K-Ras, MAPK1 and cyclin D1 at the mRNA and protein level.

cyclin D1

esophageal


Input: GRP78, activating transcription factor 6, p50, and p65 were increased in symptomatic versus asymptomatic ZZ monocytes.

asymptomatic


Input: A few mutations have been described in the CRYGC gene in autosomal dominant cataract, none of them with pulverulent cataract making clear the clinical heterogeneity of congenital cataract.

CRYGC

pulverulent cataract

CRYGC

pulverulent cataract


Input: We found that thrombin-induced COX-2 expression, PGE2 release and cardiomyocyte hypertrophy markers (increase in ANF/BNP, α-actin expression and cell surface area) was attenuated by pretreatment with CORM-2 which was partially reversed by hemoglobin (Hb) or ZnPP (an inhibitor of HO-1 activity), suggesting that HO-1/CO system may be of clinical importance to ameliorate heart failure through inhibition of inflammatory responses.

BNP

cardiomyocyte hypertrophy


Input: A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

PIGA

Ferro-Cerebro-Cutaneous syndrome

PIGA

Ferro-Cerebro-Cutaneous syndrome


Input: The aim of the study was to analyze the distribution of the follicle-stimulating hormone (FSH) receptor (FSHR) Ala307Thr and Asn680Ser polymorphisms in infertile Brazilian men and evaluate the possible role of these polymorphisms on the serum levels of FSH and in sperm count.

FSHR

infertile


Input: Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions.

FUS

juvenile amyotrophic lateral sclerosis

FUS

juvenile amyotrophic lateral sclerosis


Input: Relative levels of transcripts for tumour necrosis factor (TNF)-alpha and IL-4 also decreased with regression of lesions, although they were similar to or lower than the corresponding levels in healthy individuals.

regression


Input: Top canonical pathways up-regulated in nasal brushings from patients with GPA included granulocyte adhesion and diapedesis (P = 8. 6 (-22)), agranulocyte adhesion and diapedesis (P = 1. 3 (-14)), IL10 signaling (P = 3. 0 (-11)), LXR/RXR activation (P = 4. 3 (-11)), and TREM1 signaling (P = 9. 0 (-11)).

adhesion


Input: Ewing sarcoma (ES) and peripheral primitive neuroectodermal tumors (PNETs) are associated with a chromosomal translocation resulting in a fusion of the amino-terminus of EWS with the DNA-binding domain of an ETS transcription factor (most commonly FLI1 or ERG).

EWS

chromosomal translocation


Input: Pioglitazone improved adiponectin levels significantly (P = 0. 0001), and resulted in the further significant enlargement of adipocytes (P = 0. 05), without effect on the percentage CD14 +/CD16 + or ATM number.

ATM

enlargement


Input: Fifty-six consecutive sporadic colorectal tumors were analyzed for their p53 status.

sporadic


Input: Eighty-three Jordanian recurrent aphthous stomatitis patients and 83 age, gender and ethnically matched controls were genotyped for three NOS2 single-nucleotide polymorphisms, rs10459953, rs1060822 and rs2297518.

recurrent aphthous stomatitis


Input: The results suggest that AAV may be a useful vector for genetic therapy of sickle cell disease and other hematopoietic disorders.

AAV

sickle cell disease


Input: Whether the HMW-MAA-specific mAb can be used as carriers of toxins or chemotherapeutic agents against 11q23-acute leukemia remains to be determined.

HMW-MAA

acute leukemia


Input: CRP was associated with many other cardiovascular risk factors, particularly markers of obesity and insulin resistance, markers of inflammation and acute phase reaction, and hormone replacement therapy.

CRP

insulin resistance


Input: The same somatic mutation was found in the Brenner tumor, together with a novel missense CYLD mutation (D889N), which has never been reported in the literature.

CYLD

somatic mutation


Input: To elucidate the role of MMR genes in the tumorigenesis of prostate cancer, we evaluated the expression of these genes in human cancer cell lines and in tumor specimens.

MMR

tumorigenesis


Input: Furthermore, silencing of tensin-3 was associated with enrichment of H4K20me3 immediately upstream of the tensin-3 transcription start site, suggesting that the loss of H4K20me3 in tumor cells induced the expression of cancer-promoting genes.

tensin

cancer


Input: Four family members (S100A2, S100A4, S100A6 and S100A10) demonstrated evidence of upregulated expression in multiple medulloblastoma cell lines, following treatment with the DNA methyltransferase inhibitor, 5'-aza-2'-deoxycytidine.

medulloblastoma

medulloblastoma


Input: Indeed, recent evidence suggests that targeting PAR-2 helps reduce joint swelling observed in animal models of arthritis.

PAR

arthritis


Input: Both HUVEC proliferation and tube formation were strongly enhanced by coculture with metastatic pancreatic cancer cells and were enhanced to a similar extent by culture in the presence of IL-1alpha and IL-8.

metastatic pancreatic cancer


Input: Consistent with its profile of metabolic actions, an association has been reported between a single nucleotide polymorphism (SNP) in the 3' untranslated region of the IGF2 gene (ApaI) and body mass index.

IGF2 gene

body mass index