Input: In order to gain insight into the roles of p53 and ceramide in gamma-radiation-induced glioma cell death, we used U87-W E6 and vector-infected U87-LXSN cells.

glioma


Input: This study investigated genes involved in the regulation of neuroplasticity (BDNF, ST8SIA2), second messenger cascades (GSK3B, MAPK1, and CREB1), circadian rhythms (RORA), transcription (SP4, ZNF804A), and monoaminergic system (HTR2A and COMT) in the risk of neurological, psychic, autonomic, and other ADRs.

circadian rhythms


Input: BRCA1 is required for homologous recombination-mediated DNA repair and deficiency results in genomic instability.

genomic instability


Input: Low oxygen (hypoxia) and transforming growth factor-β (TGF-β) are two major factors responsible for increased VEGF secretion.

TGF-β

hypoxia


Input: We conclude that through regulation of expression of DNA damage response genes, CycK/Cdk12 protects cells from genomic instability.

CycK

genomic instability


Input: Iodide uptake in a panel of non-prostate tumor cell lines infected with Ad-ARR (2) PB/hNIS was no more than 2, 500 cpm, demonstrating the tissue specificity of this construct.

NIS

prostate tumor

NIS

prostate tumor


Input: Six genes (DAO, GRM3, GRM4, GRIN2B, IL2RB, and TUBA8) met this criterion for bipolar I disorder; only DAO has been previously associated with bipolar disorder.

bipolar disorder

bipolar disorder


Input: Myxoid and round cell liposarcoma share the same characteristic chromosome change: t (12; 16) (q13; p11) in most cases.

round cell liposarcoma


Input: In the entire group of breast tumors, the percentages of ER-and PR-positive cells were registered in the epithelial subfraction, in combination with DNA ploidy and S phase fraction (SPF).

SPF

breast tumors


Input: Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus.

deafness


Input: In addition, suppression of GCN5 with its specific inhibitor CPTH2 inhibited human colon cancer cell growth.

colon cancer


Input: Previous [35S] methionine-labeling studies of fibroblasts from IVA patients have revealed at least five classes of mutations within the IVD gene.

IVD

IVA

IVD

IVA


Input: As shown in this report, identification and characterization of SR-BI expression in the rabbit affords a powerful tool to elucidate the role of SR-BI in cholesterol homeostasis and atherogenesis in human.

SR-BI

atherogenesis


Input: Our findings, combined with evidence from preclinical and animal studies, suggest that HOMER1 plays a role in the etiology of major depression and that the genetic variation affects depression via the dysregulation of cognitive and motivational processes.

major depression

major depression


Input: Next, to elucidate the effects of endogenous wt-and mut-p53s, a transfection assay and Northern blot analysis for VEGF transcription under hypoxia were performed by using isogenic variants of HT1080 cells differing in their p53 status.

VEGF

hypoxia


Input: All three of these lymphomas harbored the bcl-2-Ig fusion gene associated with the chromosomal translocation t (14; 18).

chromosomal translocation


Input: One novel mutation, a G--& gt; A transition (2157G--& gt; A) in exon 15 of the PTCH2 gene, was identified in this family with NBCCS by direct sequencing and digestion with the AvaI restriction enzyme.

NBCCS

NBCCS


Input: ], miR-142-3p (AUC = 0. 668, P = 0. 002), miR-199a-3p (AUC = 0. 668, P = 0. 002), miR-23a (AUC = 0. 637, P = 0. 010), miR-27b (AUC = 0. 642, P = 0. 008), miR-324-5p (AUC = 0. 621, P = 0. 023), and miR-342-3p (AUC = 0. 644, P = 0. 007) were associated with HF diagnosis in regression and receiver operating characteristic (ROC) analyses.

regression


Input: When dermal and synovial fibroblasts were stimulated identically by hypoxia and cytokines (TGF-beta and IL-1), synovial fibroblasts secreted four times more VEGF than did dermal fibroblasts.

TGF-beta

hypoxia


Input: How HSD17B6, an enzyme involved in steroid metabolism, may influence BMI and insulin resistance in PCOS remains to be determined.

insulin resistance


Input: Nonparametric linkage (NPL) regression provided modest evidence of linkage to 9p21. 3 near D9S1121 (logarithm of odds [LOD] = 2. 03), 1q25. 1 near D1S1589 (LOD = 1. 62), and 13q33. 3 near D13S796 (LOD = 1. 02).

NPL

regression


Input: The calcium-activated chloride channel anoctamin 1 (ANO1) is located within the 11q13 amplicon, one of the most frequently amplified chromosomal regions in human cancer, but its functional role in tumorigenesis has remained unclear.

tumorigenesis


Input: Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.

BCKDHA

maple syrup urine disease

BCKDHA

maple syrup urine disease


Input: The clinical phenotype of FAF possesses several neurological characteristics with multiple cranial nerve signs, in addition to a peculiar exanthema of " lichen amyloidosus " and pendulous skin " cutis laxa ", and the carpal tunnel syndrome.

FAF

exanthema


Input: In this study, we have characterized a recurrent fusion of the first three exons of HMGA2 5' to the G protein-coupled receptor gene (RDC1) in lipomas with rearrangements involving chromosome bands 2q35-37 and 12q13-15, one of several recurrent chromosomal rearrangements in lipomas.

lipomas


Input: To correlate the presence of renal agenesis/dysgenesis to the prevalence of KAL1 gene defects in patients with sporadic Kallmann syndrome (KS).

KAL1 gene

sporadic


Input: The aim of this study was to investigate the correlation between apelin and retinopathy of prematurity (ROP), between apelin and the other known angiogenic cytokines including vascular endothelial growth factor (VEGF) and hypoxia-induced factor-1a (HIF-1a).

VEGF

hypoxia


Input: TPMT activity in children with persistent splenomegaly was also lower than that in control subjects (median difference, 1. 6 U; 95% confidence interval, 0. 3-2. 8 U; P =. 012).

TPMT

splenomegaly


Input: Furthermore, we improved the drug-like properties of WP1130 and demonstrated that the novel compound EOAI3402143 dose-dependently inhibited Usp9x and Usp24 activity, increased tumor cell apoptosis, and fully blocked or regressed myeloma tumors in mice.

tumors


Input: The abundance of oocyte-specific Bnc1, Dppa3, and Pou5f1 mRNAs as well as markers of proinflammatory signaling were significantly increased in ovaries of obese compared with lean mice which were depleted of fully grown preovulatory follicles.

obese


Input: Since in each tumour, epithelial and spindle cell components harbour the same type of translocation t (X; 18) the present findings suggest a shifting of the anti-apoptotic role from BCL2 to c-KIT gene during the transition from the uncommitted spindle to the differentiated epithelial cells.

translocation


Input: Partial silencing of JPH2 expression in HL-1 cells by a small interfering RNA probe targeted to murine JPH2 mRNA (shJPH2) resulted in myocyte hypertrophy and increased expression of known markers of cardiac hypertrophy.

cardiac hypertrophy


Input: The bcl-2 gene product is not altered by the translocation, but its expression is deregulated, presumably by the Igh enhancer E mu.

bcl-2 gene

translocation


Input: We have identified two estrogen regulated gene products in the E (2) growth inhibited human breast cancer xenograft, T61; one showing 100% homology to the human BAC clone RP11-112E16, the other 100% homology to the human CPR3/DNJ3 gene.

breast cancer


Input: Enforced expression of JAK2 V617F in mice induces myeloproliferation and bone marrow (BM) fibrosis, suggesting a causal role for the JAK2 mutant in the pathogenesis of MPNs.

fibrosis


Input: To investigate whether alteration of the phospho-BAD protein and somatic mutation of BAD gene are characteristics of human hepatocellular carcinoma.

BAD gene

somatic mutation


Input: The chromosomal translocation t (8; 21) fuses the AML1 (RUNX1) gene on chromosome 21 and the ETO gene on chromosome 8 in human acute myeloid leukemias (AMLs), resulting in expression of the chimeric transcription factor AML1/ETO.

chromosomal translocation


Input: Additionally, a mutation of the p53 gene (TP53) in exon 5 was found by sequence analysis in the ameloblastic carcinoma.

ameloblastic carcinoma


Input: Relevant to PD, STEP61 accumulates in the striatum of human sporadic PD and in 1-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine (MPTP)-lesioned mice.

sporadic


Input: For these reasons, we investigated the possibility that PPND and other FTDP-17 syndromes might be caused by mutations in the tau gene.

tau

tau


Input: Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs.

MIM

neurological disorder


Input: Furthermore, we tested whether insulin resistance is specifically associated with genetic variation in FTO in women with PCOS.

FTO

insulin resistance


Input: Novel mutation (p. L91P, c. 272T & gt; C) of keratin 17 in a case with pachyonychia congenita type 2.

keratin 17

pachyonychia congenita type 2

keratin 17

pachyonychia congenita type 2


Input: Either TWEAK treatment or Fn14 overexpression in glioma cells resulted in the activation of NFkappaB and subsequently the translocation of NFkappaB from the cytoplasm to the nucleus.

TWEAK

translocation


Input: Using data from the Collaborative Study on the Genetics of Alcoholism data set, we found evidence suggesting linkage disequilibrium between DRD2 and ADH3 and quantitative indices of alcoholism and correlated phenotypes corresponding to smoking and personality.

smoking


Input: We treated two immortalized glioma cell lines, T98 and U87, and 10 patient-derived primary glioma cell lines with trichostatin A (TSA), a histone deacetylase inhibitor, or 5-aza-2'-deoxycytidine (5-AzaC), a DNA methyltransferase inhibitor, to comprehensively identify the cohort of genes reactivated through the pharmacologic reversal of these distinct but related epigenetic processes.

glioma


Input: Interleukin-8 increases vascular endothelial growth factor and neuropilin expression and stimulates ERK activation in human pancreatic cancer.

pancreatic cancer

pancreatic cancer


Input: In offspring only, the Pro12Ala polymorphism of the PPAR-gamma2 gene appeared to enhance weight changes brought about by exercise (Deltaweight =-0. 3 +/-1. 4 kg vs.-1. 8 +/-1. 8 kg; p < 0. 05; (Pro/Pro vs. Pro/Ala + Ala/Ala)-suggesting possible gene-environment or gene-gene interactions.

PPAR

weight changes


Input: We performed molecular scanning of the human type 2 deiodinase (DIO2) gene and evaluated a novel variant for associations with obesity and insulin resistance, assessing both the main effect and interaction with the Trp64Arg beta-3--adrenergic receptor (ADRB3) variant.

insulin resistance


Input: The present review specifically discusses the role of the IGF1-PI3-K pathway in the setting of heart disease.

heart disease


Input: This study was designed to characterize a putative role of KGF in observed histomorphological changes in both, human and experimental liver fibrosis.

KGF

liver fibrosis

KGF

liver fibrosis


Input: Among 331 candidate HCC markers, the three AKT kinase family members (AKT1-AKT3) were selected for clinical validation by immunohistochemistry analysis using 130 HCC specimens and matched adjacent non-neoplastic liver tissues.

AKT

non-neoplastic


Input: Notably, expression of HCV nonstructural component NS5A in Huh7 or primary hepatocytes stimulated PEPCK gene expression and glucose output in HepG2 cells, whereas a deletion in NS5A reduced PEPCK expression and lowered cellular lipids but was without effect on insulin resistance, as demonstrated by the inability of insulin to stimulate mobilization of a pool of insulin-responsive vesicles to the plasma membrane.

insulin resistance


Input: We investigated the androgen receptor gene GGN polymorphism and its relation to male infertility and receptor function.

GGN

male infertility


Input: Two human glioma cell lines, U87 and U251, were transfected with Ad5F35-IL24 via recombinant adenovirus-mediated gene transfer and apoptosis, as well as PKR and eIF-2α expression analyzed.

glioma


Input: In adipose tissue from study participants with the DD genotype, the mutation resulted in the absence of HSL protein, small adipocytes, impaired lipolysis, insulin resistance, and inflammation.

HSL

inflammation


Input: In the present study, sequencing analysis revealed 10 different mutations in the PPOX gene in 14 out of 17 apparently unrelated Swedish VP families.

PPOX

VP

PPOX

VP


Input: PDGF-A, PDGF-B, TGFbeta, and bFGF mRNA levels in patients with essential thrombocythemia treated with anagrelide.

TGFbeta

essential thrombocythemia

TGFbeta

essential thrombocythemia


Input: Moreover, this over-expression of MCT4 was closely associated with tumor size, TNM classification, lymphatic metastasis, distant metastasis and tumor recurrence, and also poor prognosis.

lymphatic metastasis


Input: The renal tissue from patients with MGN, MCD, focal segmental glomerulosclerosis, acute tubulointerstitial nephritis, diabetic nephropathy, immunoglobulin (Ig) A nephropathy, hypertensive nephrosclerosis, IgM nephropathy, amyloidosis and glomerulosclerosis were studied for the expression of cytokines (tumor necrosis factor, [TNF]-alpha, interleukin [IL]-1 beta, IL-2, IL-4, IL-8 and IL-10) by reverse transcriptase polymerase chain reaction.

TNF

acute tubulointerstitial nephritis


Input: Microsatellite instability correlates with antrally located intestinal-type carcinoma, with little metastatic tendency and a better prognosis; microsatellite instability frequently involves the TGF beta RII, IGF II R genes or the BAX proapoptotic gene, in as much as these contain microsatellite sequences; 3) alterations of E-cadherin, both with regards to mutations and abnormal expression.

E-cadherin

microsatellite instability


Input: CISS hybridization makes it possible to detect individual chromosomes and chromosome aberrations using recombinant DNA libraries from sorted human chromosomes.

CISS

chromosome aberrations


Input: Intriguingly, the patient remained normocalcaemic throughout childhood (2. 5 mM corrected calcium, 11 pg/ml PTH (10-71), age 8 years) but exhibited mild asymptomatic hypocalcaemia at age 10 years, now treated with 1-hydroxycholecalciferol and Ca2 + supplementation.

PTH

mild


Input: De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Retinitis Pigmentosa

Retinitis Pigmentosa


Input: Androgen receptor prevalence was higher but androgenic enzymes lower in ILC than non-neoplastic lobules.

Androgen receptor

non-neoplastic


Input: We investigated the antinociceptive effect of microinjection of HSV-1 amplicon vector-mediated human proenkephalin (hPPE) into the ventral periaqueductal grey (PAG) on neuropathic pain in rats.

PAG

neuropathic pain


Input: Telomerase activity was examined in 170 human brain tumor tissues, and terminal restriction fragment (TRF) length was examined in 152 of the 170.

TRF

brain tumor


Input: Roles of versican in cancer biology--tumorigenesis, progression and metastasis.

versican

tumorigenesis


Input: We hypothesize that, in h-IBM muscle, hyposialylated NEP has a role in hampering the cellular Abeta clearing system, thus contributing to its abnormal accumulation within vulnerable fibers and possibly promoting muscle degeneration.

NEP

muscle degeneration


Input: Analysis of a larger panel of tumors from patients receiving presurgical taxane-based treatment showed that DEFA and MAP2 expression as well as histologic features of inflammation were all statistically associated with response to therapy at the time of surgery.

tumors


Input: Activating transcription factor 3 promotes colon cancer metastasis.

transcription factor 3

colon cancer


Input: The TFG-TEC fusion gene created by the t (3; 9) translocation in human extraskeletal myxoid chondrosarcomas encodes a more potent transcriptional activator than TEC.

TFG

translocation


Input: Given the known involvement of CLDN14 gene in NSHL, DNA samples from hearing-impaired members from the four families were sequenced to potentially identify causal variants within this gene.

hearing-impaired

hearing-impaired


Input: B19 infection was thus demonstrated in six out of 53 unselected children with malignancies by bone marrow examination, using the B19, DNA-specific, polymerase chain reaction (PCR).

malignancies


Input: The t (14; 18) translocation juxtaposes the bcl-2 gene on chromosome 18 to a joining (J) gene segment of the immunoglobulin heavy chain gene (IgH) on chromosome 14.

bcl-2 gene

translocation


Input: Skeletal myxoid chondrosarcoma (SMC) is considered to be either a typical chondrosarcoma with prominent myxoid alterations or an altogether unique malignant cartilage tumor.

SMC

myxoid chondrosarcoma


Input: WES in three Dutch siblings with RP revealed a complex HGSNAT variant, c. [398G & gt; C; 1843G & gt; A] on one allele, and c. 1843G & gt; A on the other allele.

HGSNAT

RP

HGSNAT

RP


Input: Our results suggest that the EMP1 gene may be implicated in the pathophysiology of MDD in the Japanese population.

MDD

MDD


Input: We demonstrated that SULF2 expression in primary multiple myeloma cells was associated with a poor prognosis in two independent large cohorts of patients.

multiple myeloma


Input: The mutator phenotype of a defective MMR system is MSI (microsatellite instability), which also occurs in approx.

MMR

microsatellite instability


Input: Cultured fibroblast ARSB mutant protein and residual activity were determined for each patient, and, together with genotype information, were used to predict the expected clinical severity of each MPS VI patient.

ARSB

MPS VI

ARSB

MPS VI


Input: Future studies should exploit DNA-based methods and molecular investigations on the role of SELENBP1 in order to gain insights into the nature of its influence on schizophrenia and psychotic symptoms.

psychotic

psychotic


Input: Thus, caspase-8 deficiency in humans is compatible with normal development and shows that caspase-8 has a postnatal role in immune activation of naive lymphocytes.

caspase-8 deficiency

caspase-8 deficiency


Input: These EBV-positive lymphoproliferative disorders (EBV (+) LPD) of childhood are related to, but distinct from the infectious mononucleosis-like CAEBV seen in Western populations.

LPD

infectious mononucleosis


Input: We found statistically significant differences between pretreatment and posttreatment body mass index and weight change in Pro12Ala polymorphism of PPAR-gamma2.

PPAR

weight change


Input: In experimental and clinical neuroblastoma NESP55 immunoreactivity was specific for regions of chronic hypoxia.

neuroblastoma

neuroblastoma


Input: While K2P1. 1, K2P3. 1, K2P5. 1, K2P6. 1, K2P7. 1 and K2P10. 1 showed significant underexpression across the cancer types examined.

K2P7. 1

cancer


Input: We performed in situ hybridization to assess hippocampal expression of the transcripts encoding NMDA receptor subunits NR1, 2A, 2B, 2C and 2D, and the transcripts for the NMDA receptor associated PSD proteins PSD95, PSD93, NF-L, and SAP102 in subjects with schizophrenia, bipolar affective disorder I, and a comparison group.

bipolar affective disorder

bipolar affective disorder


Input: To recognize patients with inhibitory and neutralizing auto-antibodies to interferon-γ (AutoAbs-IFN-γ) presenting with the sporadic phenotype of Mendelian Susceptibility to Mycobacterial Disease (MSMD) mainly characterized by recurrent intracellular mycobacterium or/and salmonella infections, we comprehensively investigated IL12/23-IFN-γ signaling, candidate genetic sequencings or/and protein expressions of IL12RB1, IFNRG1, IL12p40, IFNRG2, STAT1, IKKA, NEMO, CYBB and IRF8 in four patients.

sporadic


Input: Oxidized LDL has been shown to increase HO-1 expression in endothelial and smooth muscle cell cultures, and during atherogenesis.

atherogenesis


Input: The identified GNA11 mutation results in biochemical abnormalities typical for ADH.

abnormalities


Input: As a result of this translocation the SU-DUL5 cell line contains no detectable bcl-2 mRNA or protein but has abundant levels of c-myc mRNA.

translocation


Input: At 28 days after MI, infarct size, left ventricular dimensions, ejection fraction, E wave/A wave ratio and capillary density of the infarcted region were most improved in the VEGF group, compared with the medium group.

VEGF

infarct


Input: The purpose of this article is to correlate detailed clinical information with molecular data in order to improve our understanding of the genotype-phenotype correlation of RSH/SLOS and to report the development of PCR-based assays that will allow more rapid mutation analysis.

SLOS

RSH

SLOS

RSH


Input: A20/TNFAIP3, a new estrogen-regulated gene that confers tamoxifen resistance in breast cancer cells.

estrogen-regulated gene

breast cancer


Input: BACKGROUND AND AIM: Although gastroesophageal reflux disease (GERD) is a risk factor for esophageal adenocarcinoma (EAC), some patients develop EAC in the absence of GERD.

AIM

esophageal adenocarcinoma


Input: In 2011 he developed jaundice, pruritus and epigastric pain. He showed increased serum levels of AST, ALT, GGT, bilirubin and alpha-fetoprotein, and viral load (14, 600, 000 IU/mL).

AST

epigastric pain


Input: The most common haplotype of the TNF gene (TNF-ht1 [GGTCCGG]) was associated with total serum IgE (immunoglobulin E) levels in asthma patients, especially in non-atopic patients (P = 0. 004).

TNF

atopic


Input: We hypothesized that single nucleotide polymorphisms (SNPs) in the melatonin receptor 1A gene (MTNR1A) might influence the risk of calcium nephrolithiasis.

calcium nephrolithiasis


Input: Overall, 61 significant associations (P < or = 0. 01) were found between SNPs belonging to cytokine receptor genes regulating T helper (Th) 1 (IL12RB2, IL2RA and B) and Th2 (IL4R and IL10RB) immunity, and cytokine (IL1B, TNFA, IL6 and IFNB1) and cytokine receptor (IL1RA, IFNAR2, IL18R1, TNFRSF1A and B) genes regulating innate immunity and variations in antibody levels to measles, mumps and/or rubella.

mumps


Input: Our findings suggest that phosphorylation of PLS3 by PKC-delta is involved in the hyperthermia-induced apoptotic signal transduction pathway in Tca8113 cells, and that Hsp27 blocks this pathway to suppress hyperthermia-induced apoptosis.

hyperthermia


Input: While RUNX1 activates the LIFR general promoter, the oncogenic RUNX1-ETO fusion protein generated by the t (8; 21) translocation commonly associated with acute myeloid leukemia represses promoter activity.

translocation


Input: This report presents the preliminary results of the first phase (21 months) of a multi-centre, non-randomised, prospective study, aimed at evaluating the effectiveness of contrast-enhanced magnetic resonance imaging (MRI), X-ray mammography (XM) and ultrasound (US) in early diagnosis of breast cancer (BC) in subjects at high genetic risk.

MRI

breast cancer


Input: Diagnostic value of cytokeratin 7 and parvalbumin in differentiating chromophobe renal cell carcinoma from renal oncocytoma.

parvalbumin

chromophobe renal cell carcinoma

parvalbumin

chromophobe renal cell carcinoma


Input: Also the LEPR Q223R SNP showed a significant association with weight at birth (QQ, QR and RR (95% CI): 2492 (2431-2554), 2545 (2495-2595) and 2655 (2571-2740) gram; P (additive) = 0. 003).

LEPR

weight


Input: Melatonin and its membrane receptor agonists (Mel1a-1b and Mel1b), but not its putative nuclear receptor agonist (Mel2), inhibited the growth of uveal melanoma cells, but not normal melanocytes, at very low concentrations.

uveal melanoma


Input: The localization of one of the X chromosome translocation breakpoints in YAC clone 957F9, that was demonstrated to map distally to the factor IX gene, revealed the complexity of this chromosomal rearrangement.

factor IX

chromosome translocation


Input: GLT-1 loss also caused an apparent compensatory increase in IDE activity in the liver, an organ that has been shown to regulate peripheral amyloid-β levels and expresses GLT-1.

amyloid


Input: In addition to identifying LTA as a major gene associated with early-onset leprosy, our study highlights the critical role of case-and population-specific factors in the dissection of susceptibility variants in complex diseases.

LTA

leprosy

LTA

leprosy


Input: To investigate the molecular mechanisms for this insulin resistance, we examined the expression of GLUT1 and GLUT4, glucose transporter genes in vastus lateralis muscle from 20 IDDM subjects and 10 nondiabetic controls.

insulin resistance


Input: As a consequence house dust mite-and IL-33-driven lung inflammation, late phase cutaneous anaphylaxis, and collagen-induced arthritis were aggravated, in contrast to experimental autoimmune encephalomyelitis and immediate anaphylaxis.

lung inflammation

lung inflammation


Input: Using telomere-FISH (telo-FISH) assays, telomere lengths in premalignant and malignant cervical and endometrial lesions were measured and compared with chromosomal arm loss or gain.

FISH

premalignant


Input: No other amygdala nuclei studied showed any significant differences for the prodynorphin mRNA levels measured in the major depression and bipolar disorder subjects.

prodynorphin

bipolar disorder

prodynorphin

bipolar disorder


Input: Semiquantitative reverse transcription-polymerase chain reaction was used to compare expression levels of osteocalcin, core-binding factor alpha 1, and MSX2 in 34 osteosarcoma, five fibrous dysplasia, and five myositis ossificans specimens, as well as in seven normal cortical bone samples.

myositis ossificans


Input: Whereas hypoxia alone moderately stimulated endoglin transcription, addition of TGF-beta under hypoxic conditions resulted in transcriptional cooperation between both signaling pathways, leading to marked stimulation of endoglin expression.

TGF-beta

hypoxic


Input: In the present study, we investigated the importance of the LKB1-AMPK pathway in regulating tumorigenesis in mice resulting from deficiency of the PTEN (phosphatase and tensin homologue deleted on chromosome 10) tumour suppressor, which drives cell growth through overactivation of the Akt and mTOR (mammalian target of rapamycin) kinases.

tumorigenesis


Input: We also provisionally suggest that dysthymia may stem from disturbances of neuroendocrine and neurotransmitter functioning (eg, corticotropin releasing hormone and arginine vasopressin within the hypothalamus, or alternatively monoamine variations within several extrahypothalamic sites), and may also involve cytokine activation.

corticotropin releasing hormone

dysthymia

corticotropin releasing hormone

dysthymia


Input: Mutations in the PI3K/PTEN/TSC2 pathway contribute to mammalian target of rapamycin activity and increased translation under hypoxic conditions.

hypoxic


Input: These results suggested that Ptx1 may be an universal transcription factor in both neoplastic and non-neoplastic conditions in human pituitaries.

non-neoplastic


Input: The possible biochemical and immunological mechanisms of the previously discovered phenomenon of significant and prolonged decrease of alcohol abuse of albino rats after the intravenous injection of the heterologous alcohol dehydrogenase (ADH) were studied.

ADH

albino


Input: The IL-8 mRNA and protein levels are increased in the esophageal mucosa, not only in reflux esophagitis (RE), but also in endoscopy-negative GERD (NERD), through activation of nuclear factor-kappaB (NF-kappaB), which is a pivotal transcription factor.

NF-kappaB

reflux esophagitis


Input: To investigate its possibility as a molecular target for future therapies directed against hepatocellular carcinoma, we constructed a tissue-specific RNA interference (RNAi) system mediated by hypoxia-inducible (HI) enhancer/alpha-fetoprotein (AFP) promoter and employed it to downregulate exogenous reporters (LUC and EGFP) and endogenous STK15 gene expression and analyzed the phenotypical changes in HCC cells.

AFP

hypoxia


Input: The role of the Th1 pathway in the pathogenesis of severe malaria is unclear.

severe malaria


Input: The relapse samples retained the translocation of ETV6-RUNX1 relative to the three-way translocation t (8; 12; 21) at diagnosis, suggesting that the three-way translocation might be an important risk factor for relapse in patients with ETV6-RUNX1-positive ALL and should be further studied.

translocation


Input: The objectives of the current study were 1) to identify the number of women in a breast cancer screening population who had > or = 20% lifetime breast cancer risk and, thus, were candidates for screening MRI; and 2) to determine the number of women who had > or = 10% risk of BRCA mutation yet had < 20% lifetime risk of breast cancer and, thus, may not have been identified as candidates for MRI screening.

MRI

breast cancer


Input: GFAP has been identified to be the only gene associated with Alexander disease since 2001.

GFAP

Alexander disease

GFAP

Alexander disease


Input: The susceptibility alleles found in Mexicans with narcolepsy are also present in Japanese and Caucasians; DRB1 * 04 linked protection has also been shown in Koreans.

narcolepsy

narcolepsy


Input: Furthermore, drug selection with sulfasalazine and topotecan induced a complete demethylation of the ABCG2 promoter in the T-ALL and ovarian carcinoma model cell lines CCRF-CEM and IGROV1, respectively.

T-ALL

T-ALL


Input: Rats were subjected to coronary artery ligation to induce MI, and adenovirus carrying the human tissue kallikrein or luciferase gene was injected into the tail vein at 1 week after surgery.

tissue kallikrein

MI

tissue kallikrein

MI


Input: We isolated a CD8 + cytotoxic T lymphocyte (CTL) clone directly from the blood of a patient with the acute hantavirus pulmonary syndrome (HPS) which recognizes a SNV specific epitope on the virus nucleocapsid protein (aa 234-242) that is restricted by HLA C7 and produces IFN gamma but not IL-4.

IFN

hantavirus pulmonary syndrome


Input: The present findings are consistent with the view that PTHrP can be generated in myeloma cells in vivo, and could contribute to osteolysis and hypercalcaemia, as in patients with cancer.

PTHrP

myeloma

PTHrP

myeloma


Input: The supplementation of FGF-2 and BDNF attenuated various parameters of inflammation, including astrocytosis, microcytosis and IL-1 & #946; expression.

inflammation

inflammation


Input: Fifty-seven gastric and colorectal cancers were stratified by autosomal STRs, and the mononucleotide marker BAT-26 into stable, low-level unstable and high-level unstable microsatellite (MSI-H) cancers, of which the last produced the majority of X-STR alleles.

STR

cancers


Input: During chromosome analysis, we identified a reciprocal translocation between chromosomes 1p and 12q, t (1; 12) (p32. 1; q21. 3), co-segregating with microcephaly, language delay, and severe psychomotor retardation in a mother and her two affected boys.

language delay


Input: In vitro, after the release of U87 cell lines from serum starvation, the expression of SYF2 was upregulated, as well as PCNA and cyclin D1.

starvation


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

Beta-Actin

Becker' s Nevus

Beta-Actin

Becker' s Nevus


Input: Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.

Parkes Weber syndrome

Parkes Weber syndrome


Input: GM2-gangliosidoses are neurological disorders caused by a genetic deficiency of either the beta-hexosaminidase A or the GM2 activator, a glycolipid binding protein.

GM2 activator

gangliosidoses


Input: There was also a significant association of a CSF3 haplotype with baseline levels of forced expiratory volume in one second.

forced expiratory volume


Input: Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.

Lafora disease

Lafora disease


Input: Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein.

cartilage oligomeric matrix protein

Pseudoachondroplasia

cartilage oligomeric matrix protein

Pseudoachondroplasia


Input: At 12, 24, and 72 h after treatments, neurological deficits were evaluated; expression of HTK and vascular endothelial growth factor (VEGF) were detected by immunohistochemistry staining; the infarction volume was measured; and rCBF was examined by (14) C-iodoantipyrine microtracing technique.

VEGF

infarction


Input: These results indicate that RhoGDI2 plays a critical role in tumor progression in gastric cancer through induction of EMT.

EMT

tumor progression


Input: Patients with multidrug-resistant tuberculosis display impaired Th1 responses and enhanced regulatory T-cell levels in response to an outbreak of multidrug-resistant Mycobacterium tuberculosis M and Ra strains.

multidrug-resistant tuberculosis


Input: The spectrum of patients included those with Stargardt macular dystrophy, macular dystrophies secondary to known mutations such as peripherin/RDS, uncharacterised macular dystrophies, Best disease, bifocal chorioretinal atrophy, Bietti crystalline retinal dystrophy and choroideraemia.

peripherin

chorioretinal atrophy


Input: The findings in the current study enrich the evidence on the OPTN gene as a causative gene for POAG and suggest a different mutation pattern of OPTN in Chinese than in whites.

OPTN

POAG

OPTN

POAG


Input: [Effects of human Cu, Zn-superoxide dismutase in aminonucleoside nephrosis--evaluation of the morphology and glomerular basement membrane anionic charge sites].

Cu, Zn-superoxide dismutase

nephrosis

Cu, Zn-superoxide dismutase

nephrosis


Input: Gastric cancers of different stages and histology were analyzed on SAGE, and one of the largest gastric cancer SAGE libraries in the world was created (GEO accession number GSE 545).

GSE

gastric cancer


Input: However, Nurr1 deletion did not induce overt abnormalities in other cardinal behavioral and cognitive functions known to be impaired in schizophrenia, including social interaction and recognition, spatial recognition memory or discrimination reversal learning.

abnormalities


Input: Interestingly, cells expressing the mutated frataxin presented a FRDA-like biochemical phenotype.

frataxin

FRDA

frataxin

FRDA


Input: Here, using a rat neuropathic pain model induced by repeated systemic paclitaxel injections, we examined whether paclitaxel upregulates proinflammatory cytokine gene expression, and whether these changes and paclitaxel-induced mechanical allodynia can be attenuated by intrathecal IL-1 receptor antagonist (IL-1ra) or intrathecal delivery of plasmid DNA encoding the anti-inflammatory cytokine, interleukin-10 (IL-10).

mechanical allodynia

mechanical allodynia


Input: Our results prove that somatic GJB2 mutation is sufficient to cause PEODDN.

PEODDN

PEODDN


Input: We also add new insights into the mechanisms linking the coagulation mediators thrombin and PAR-1 in the context of blood coagulation disorders and venous thrombosis often observed in cancer patients, as described in 1865 by Armand Trousseau.

venous thrombosis


Input: While the exact mechanism (s) for this antitumor activity of p-XSC remains to be elucidated, it appears that modulation of beta-catenin expression and COX-2 activity is associated with inhibition of intestinal polyps.

intestinal polyps

intestinal polyps


Input: In the present study, we used in situ hybridization to measure the expression of NMDA subunits (NR1, NR2A-D), and associated intracellular proteins (NF-L, PSD95, and SAP102) in a second, younger cohort from the Stanley Foundation Neuropathology Consortium, which included patients with both schizophrenia and affective disorders.

affective disorders

affective disorders


Input: We found that this plasmid, pβ-SP-ODD-VEGF, expresses the SP-ODD-VEGF protein at increased levels under hypoxic conditions compared to normoxic conditions.

VEGF

hypoxic


Input: Blood pressure was increased 50 mmHg for 20 min by arterial constriction +/-ANG II clamp or by sham operation.

ANG

constriction


Input: In this study, we used the cuprizone model of demyelination, characterized by oligodendrogliopathy and microglial infiltration, to define the effect of p53 inhibition.

demyelination

demyelination


Input: On a cellular level, loss of CRTAP in human OI fibroblasts led to a secondary loss of P3H1, and vice versa.

CRTAP

secondary


Input: We show that NSD3-short is an adaptor protein that sustains leukemia by linking BRD4 to the CHD8 chromatin remodeler, by using a PWWP chromatin reader module, and by employing an acidic transactivation domain.

leukemia


Input: Plasma adrenomedullin (ADM) concentrations increase in patients with hypertension, renal failure, heart failure, essential pulmonary hypertension, myocardial infarction, endotoxin shock, and many other conditions.

ADM

shock


Input: So far, miRNA expression changes associated with invasive breast cancer, like miR-21, have not been studied in FEA.

invasive breast cancer


Input: The majority of the up-regulated genes characterized were found to have an established or possible role in the innate defense against infections; these genes included the LPLUNC1, LF, VCC1, TCN1, CD55, SERPINA3, MMP1, MMP3, IL1B, LCN2, SOCS3, GDF15, SLPI, CXCL13, and MUC1 genes.

infections


Input: The genome types of B19 from the fetuses and leukemia patients were similar to the types from patients with aplastic crisis and an asymptomatic individual.

leukemia


Input: Using flow cytometry and Annexin V and propidium iodide as markers for apoptosis and necrosis, respectively, SP-D-deficient mice were found to have a 5-to 10-fold increase in the number of apoptotic and necrotic alveolar macrophages in the lungs.

Annexin V

necrotic


Input: Results presented herein provide further evidence for a role of MAGI1 and MAGI2 in BPAD and SZ etiology.

BPAD

BPAD


Input: In tumor cells, EMT is a vital step of tumor progression and metastasis.

EMT

tumor progression


Input: In models of painful peripheral neuropathy associated with vincristine chemotherapy, alcoholism, diabetes, and human immunodeficiency virus/acquired immune deficiency syndrome therapy, mechanical hyperalgesia was markedly reduced by spinal intrathecal administration of oligodeoxynucleotides antisense to TRPV4.

immune deficiency


Input: This finding emphasizes the significance of SCN1A mutations also in epileptic disorders with features of LGS, particularly in the myoclonic variant of the disorder.

LGS

LGS


Input: Rare nonsynonymous variants in alpha-4 nicotinic acetylcholine receptor gene protect against nicotine dependence.

nicotine dependence


Input: In colosphere xenografts, SHH inhibitor significantly suppressed tumorigenesis by inhibiting tumorsphere formation.

SHH

tumorigenesis


Input: PlGF-1, that is a pure agonist of VEGFR-1, is produced in ARPE-19 cells under hypoxic conditions and mimics VEGF effects on the external retinal barrier as measured by TER and inulin flux.

VEGF

hypoxic


Input: Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.

Cole disease

Cole disease


Input: Furthermore, this approach enables quantification of haploinsufficiency due to nonsense-mediated mRNA decay in normal tissue and B-lymphocytes from patients carrying MSH2 germline mutations and may be useful for identification of asymptomatic carriers of pathogenic germline mutations.

asymptomatic


Input: Here we report delayed ossification and decreased bone mineral density in caspase-3-deficient (Casp3 (-/-) and Casp3 (+/-)) mice due to an attenuated osteogenic differentiation of bone marrow stromal stem cells (BMSSCs).

bone mineral density


Input: One variant (1128 T > C), which causes an amino acid change from leucine to proline at codon 7 in the signal peptide of NPY, was associated with increased body mass index (BMI) in two separate Swedish populations of normal and overweight individuals.

NPY

body mass index


Input: There was a decrease of ANXA1 expression in myoepithelial cells in ductal carcinoma in situ lesions compared with the same cell population in either normal or hyperplastic lesions.

ductal carcinoma in situ


Input: Also, levels of the proliferation marker proliferating cell nuclear antigen (PCNA) and OX-42 were not increased in the infarct core in rats treated with SA4503.

PCNA

infarct


Input: Three cases with deletion of the whole sodium channel gene cluster (SCN3A, SCN2A, SCN1A, SCN9A, and SCN7A) exhibited a complex epilepsy phenotype that was atypical for Dravet syndrome and suggestive of migrating partial seizures of infancy: early seizure onset (before 2 months of age), severe developmental delay from seizure onset, multifocal interictal spikes, polymorphous focal seizures, and acquired microcephaly.

developmental delay


Input: We found 14 novel SCN2A missense mutations in 15 patients: 9 of 67 OS cases (13. 4%), 1 of 150 West syndrome cases (0. 67%), and 5 of 111 with unclassified EOEEs (4. 5%).

West syndrome

West syndrome


Input: The mutation R122H of the cationic trypsinogen was found in 21 index patients, N291 in six index patients, and A16V and D22G in one index patient, all from HP families.

cationic trypsinogen

HP

cationic trypsinogen

HP


Input: Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies.

seizures

seizures


Input: These stimuli also provoked microphthalmia transcription factor (MITF) translocation to the nucleus, and knockdown of MITF by short hairpin RNA indicated its absolute requirement for Gpnmb induction.

MITF

translocation


Input: Our observations thus far indicate that both angiogenic and non-angiogenic tumours experience hypoxia/HIF and vascular endothelial growth factor (VEGF) pathway protein expression in a comparable fashion.

VEGF

hypoxia


Input: KLK5-SV2 is expressed in a variety of tissues, with higher expression levels in the mammary gland, cervix, salivary gland and trachea.

trachea


Input: And in vitro, in 3T3-L1 adipocytes, insulin-induced (1. 0 mmol/liter) insulin resistance significantly decreased VLDLR mRNA expression.

VLDLR

insulin resistance


Input: To determine whether primary plasma cell leukemia (PPCL) remains a high-risk multiple myeloma feature in the context of contemporary therapy and gene-expression profiling (GEP), we reviewed records of 1474 patients with myeloma, who were enrolled in Total Therapy protocols or treated identically off protocol.

GEP

plasma cell leukemia


Input: Epicardial vessel paucity was associated with increased numbers of HIF-1alpha (+) cells (46. 8 +/-13. 1% vs. 19. 4 +/-9. 4%, p = 0. 006) indicating local epicardial hypoxia and elevation of circulating VEGF-A (394 pg/mL vs. 22 pg/mL, p = 0. 001).

VEGF-A

hypoxia


Input: Expression of NAT1, TBC1D9, IL6ST, RABEP1, PLK1 and LRBA was elevated in carcinomas of males compared to those of females, in which ER status appeared to be related to expression.

LRBA

carcinomas


Input: Our study confirms the significant association between SNP rs1063192 (CDKN2B, previously shown to influence vertical cup-to-disc ratio and POAG at 9p21) and POAG in the Afro-Caribbean population of Barbados.

cup


Input: Here we show that Arsg KO mice share common neuropathological findings with other Sanfilippo syndrome models and patients, but they can be clearly distinguished by the limitation of most phenotypic alterations to the cerebellum, presenting with ataxia as the major neurological finding.

Arsg

neurological finding


Input: Ten glyco-genes (GALNT3, GALNT6, GALNT7, GALNT14, MGAT3, MAN1A1, MAN1C1, ST3GAL2, ST6GAL1, ST8SIA3) showing changes in both methylation and expression in the same type of cancer belong to GalNAc transferases, GlcNAc transferases, mannosidases and sialyltransferases, which is in line with changes in glycan structures already reported in the same type of tumors.

cancer


Input: We hypothesised that severe pre-and post-natal growth restriction associated with insulin resistance and precocious pubarche in the absence of SRS are also caused by downregulation of IGF2 through hypomethylation, gene mutation or structural chromosomal abnormalities.

insulin resistance


Input: Wild-type and Asbt-deficient (Slc10a2 (-/-)) male mice were treated with azoxymethane (AOM) alone to examine the development of aberrant crypt foci, the earliest histological marker of colon neoplasia and a combination of AOM and dextran sulfate sodium to induce colon tumor formation.

neoplasia


Input: MicroRNAs Hsa-miR-185 * and Hsa-miR-491-3p were upregulated in suicide completers with low expression of TrkB. T1 (P (nominal): 9. 10 (-5) and 1. 8. 10 (-4) respectively; FDR-corrected p = 0. 031).

suicide


Input: Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in PAX8 and TTF2 (FKHL15).

hypoplastic thyroid

hypoplastic thyroid


Input: Here we report that related transcriptional enhancer factor-1 (RTEF-1), a member of the TEF transcriptional factor family, transcriptionally regulates the HIF-1α gene under normoxic and hypoxic conditions.

hypoxic


Input: CONCLUSIONS: These results suggest that methylation-mediated silencing of MZB1 expression leads to loss of its tumor-suppressive activity, which may be a factor in the hepatocarcinogenesis, and is a useful prognosticator in HCC.

hepatocarcinogenesis


Input: The presence of TDP-43-ir changes in AD and DS may therefore be a secondary phenomenon, relating more to ageing than to AD itself.

ageing


Input: The epithelial to mesenchymal transition (EMT) is a crucial process in tumor progression.

EMT

tumor progression


Input: The enhancement of TRAIL-induced apoptosis was associated with an upregulation of cyclin-dependent kinase inhibitor p21waf1/cip1 in pioglitazone-treated carcinoid cells.

TRAIL

carcinoid


Input: The risk of venous thrombosis is not increased, indicating that mannose-binding lectin has a specific role in providing protection against arterial thrombosis.

mannose-binding lectin

venous thrombosis


Input: MRC-cIII-generated ROS promote oxidative DNA damage to trigger genomic instability, resulting in an accumulation of chromosomal aberrations and tyrosine kinase inhibitor-resistant BCR-ABL1 mutants.

MRC

genomic instability


Input: In the present work, we examined different polygenic influences on the risk of PSD in a series of stroke patients.

PSD

stroke


Input: Fibre typing and capillary formation, together with messenger RNA (mRNA) expression of hypoxia-inducible factors (HIF1alpha and HIF3alpha), vascular endothelial growth factors (VEGF-A, VEGF-B and VEGF-C isoforms) and von Hippel-Lindau (VHL) protein, were determined.

VEGF-A

hypoxia


Input: Here, we report on a SAM domain mutation (p. Asp564His) in TP63 that predisposed the patients to have nonsyndromic cleft palate and nonsyndromic cleft lip and palate.

cleft lip and palate

cleft lip and palate


Input: A subset of normal lung function genes, including HHIP, family with sequence similarity 13, member A (FAM13A), and patched homolog 1 (PTCH1), together predict lung function abnormalities, a measure of severity in white and African American subjects with asthma.

HHIP

abnormalities


Input: Our findings show that PIK3R1 mutations are the major cause of SHORT syndrome and suggest that the molecular mechanism of disease might involve downregulation of the PI3K-AKT-mTOR pathway.

SHORT syndrome

SHORT syndrome


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

Ollier disease

Ollier disease


Input: The mother had low muscle power and marked menstrual irregularities which may indicate that she is a manifesting carrier and that the deletion may include a gene (F18 or other) for gonadal function in females.

menstrual irregularities


Input: In both CRC cell lines and tumor cells from CRC patients, the ADCC activities were significantly associated with the cell surface expression levels of EGFR [standard partial regression coefficients: 0. 911 (P = 0. 017) and 0. 660 (P = 0. 018), respectively], but not with the mutational status of KRAS and BRAF [standard partial regression coefficient:-0. 101 (P = 0. 631) and 0. 160 (P = 0. 510), respectively].

EGFR

regression


Input: The chromosomal translocation (8; 21) (q22; q22) in the AML M2 subtype according to the FAB classification, results in the production of a novel fusion gene AML1/ETO.

chromosomal translocation


Input: The probability of missing AOA2 diagnosis, in case of sequencing senataxin gene only in non-Friedreich ataxia non-ataxia-telangiectasia ataxic patients with AFP level > or = 7 microg/l, is 0. 23% and the probability for a non-Friedreich ataxia non-ataxia-telangiectasia ataxic patient to be affected with AOA2 with AFP levels > or = 7 microg/l is 46%.

AFP

telangiectasia


Input: Peptidoglycan (PGN) was systemically administrated to PIA rats, and arthritis severity was evaluated macroscopically and microscopically.

PGN

arthritis


Input: In this study, we show that a member of the heat-shock 70 family of proteins, HSPA6, is a target gene of FOXC1.

shock


Input: The most significant SNPs resided in ROR1 and PLCB1, genes known to be involved in bipolar disorder and schizophrenia, respectively.

bipolar disorder

bipolar disorder


Input: Of the five classes of subjects with unexplained fatigue, three classes were distinguished by gene polymorphsims involved in either HPA axis function or neurotransmitter systems, including proopiomelanocortin (POMC), nuclear receptor subfamily 3, group C, member 1 (NR3C1), monoamine oxidase A (MAOA), monoamine oxidase B (MAOB), and tryptophan hydroxylase 2 (TPH2).

HPA

fatigue


Input: However, the biological function of SASH1 in melanoma cells is yet to be determined.

melanoma


Input: Here we identify TRF1 as a major conserved substrate for Pin1 during telomere maintenance and ageing.

ageing


Input: NPL regression and ordered subset analyses also identified loci on 13q13. 1 and 13q33. 3 as contributing to early-onset ESRD and ESRD in the presence of increased BMI, respectively.

NPL

regression


Input: [Prognostic implications of GP3a glucoprotein gene PLA1/PLA2 allele in prostatic cancer: pilot results of the study].

prostatic cancer

prostatic cancer


Input: In every individual with FDH, the mutation was associated with the Sac I + polymorphism in the albumin gene, strongly suggesting a founder effect.

albumin

FDH

albumin

FDH


Input: A case of hypotension probably due to an albumin infusion is described.

albumin

hypotension

albumin

hypotension


Input: This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.

AFAP

hereditary pancreatic cancer


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

PPAR

waist-to-hip ratio


Input: Therefore, UCP-2 modulates the ROS/Stat3 signaling pathway and response to chemotherapy treatment in lung cancer cells.

UCP

lung cancer


Input: Expression of alternative costimulatory receptors (inducible costimulator, OX40, 4-1BB, cytotoxic T lymphocyte associated antigen-4, programmed death-1) was quantified in CD4 (+) CD28 (null) T cells from circulation of ACS and stable angina patients.

stable angina


Input: A growing body of evidence indicates that elevated expression of CD26 correlates with disease aggressiveness and invasive potential of selected malignancies.

aggressiveness


Input: Glucagon antagonized verapamil-induced hypotension and bradycardia in rats; however, glucagon' s ability to antagonize other CCBs is unexplored.

Glucagon

hypotension

Glucagon

hypotension


Input: FMRP is a polyribosome-associated RNA-binding protein that regulates the synthesis of a set of plasticity-reated proteins by stalling ribosomal translocation on target mRNAs.

RNA-binding protein

translocation


Input: In vivo, it had an antitumor effect when injected into tumors in murine models of subcutaneous lymphoma (SCL) and primary cerebral lymphoma (PCL).

SCL

lymphoma


Input: A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.


Input: The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome without insulin resistance and with early bone complications.

insulin resistance


Input: We sought to examine the association of TET1 methylation with asthma and traffic-related air pollution (TRAP).

TRAP

asthma


Input: chromosomal instability, driven primarily by APC mutation induced deregulated Wnt signaling, and microsatellite instability (MSI) caused by mismatch repair (MMR) inactivation, together account for > 90% of late-onset colorectal cancer (CRC).

MMR

microsatellite instability


Input: However, the relationship between TRP expression and the clinicopathological characteristics of lung cancer and patient prognosis is not well understood.

TRP

lung cancer


Input: CONCLUSIONS: We conclude that down-regulation of the KLK11 gene in advanced and more aggressive tumors may open the possibility of being used as a future biological marker distinguishing the tumor aggressiveness as well as a useful prognostic biomarker for prostate cancer.

KLK11 gene

aggressiveness


Input: All 9 patients had reticulocytopenia at the time B19 DNA was detected in their serum samples.

reticulocytopenia


Input: Fused in sarcoma (FUS) is a nuclear DNA/RNA binding protein that regulates different steps of gene expression, including transcription, splicing and mRNA transport.

RNA binding protein

sarcoma


Input: Neither allele and genotype distributions nor NPL scores or the restriction of analysis to individuals older than 50 years provided evidence for association or linkage of the VIPR1 SNP and cholelithiasis.

NPL

cholelithiasis


Input: Our data demonstrate that deregulated Ras/ERK signaling is critical for the growth of NF1 peripheral nerve tumors and provide a strong rationale for testing MEK inhibitors in NF1 clinical trials.

ERK

peripheral nerve tumors


Input: RNA expression levels of CDH1, SMAD3, TGFβ1, ICAM-1, TIMP-1 and MUC12 were measured by qRT-PCR in a set of 39 tumor samples and non-cancer tissue.

cancer


Input: To investigate the molecular mechanisms underlying EMT and the emergence of cancer stem cell-like properties during neoplastic transformation of human bronchial epithelial (HBE) cells induced by chronic exposure to arsenite.

HBE

neoplastic transformation


Input: In addition, resveratrol remarkably inhibited hypoxia-mediated activation of extracellular signal-regulated kinase 1/2 and Akt, leading to a marked decrease in hypoxia-induced HIF-1alpha protein accumulation and VEGF transcriptional activation.

VEGF

hypoxia


Input: AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.

Glanzmann thrombasthenia

Glanzmann thrombasthenia


Input: We investigated the possible participation of mitogen-activated protein kinases in serum starvation induction of VEGF in the HT29 human colon carcinoma cell line.

VEGF

starvation


Input: The mutant Cdc20 protein (AAA-Cdc20) is no longer inhibited by Mad2 in response to SAC activation, leading to the dysfunction of SAC and aneuploidy.

SAC

aneuploidy


Input: Apoptosis regulator B-cell lymphoma 10 (BCL10) may show aberrant nuclear localization in some aggressive extracutaneous MALT lymphomas, often in association with a MALT1 gene t (11; 18) (q21; q21) translocation.

MALT1 gene

translocation


Input: We report a pediatric case of B lymphoblastic leukemia (BLL) with t (12; 21) (p13; q22); TEL-AML1 (ETV6-RUNX1) showing erythrophagocytosis and thrombophagocytosis by leukemic blasts.

erythrophagocytosis


Input: Both H. felis infection and K-ras mutation induced upregulation of proinflammatory cytokines, expansion of Dcamkl1 (+) cells, and progression to oxyntic atrophy, metaplasia, hyperplasia, and high-grade dysplasia.

atrophy


Input: Molecular investigations of GJB3 and GJB4 were performed in five pedigrees and three sporadic cases of EKV.

sporadic


Input: The CD rat models were established by trinitrobenzene sulfonic acid (TNBs), randomly divided into a model control (MC) group, an herb-partition moxibustion (HPM) group, a mild-warm moxibustion (MWM) group, and a salicylazosulfapyridine (SASP) group, and all were compared with a normal control (NC) group.

SASP

mild


Input: In addition, CLT inhibited the cold and menthol receptor TRPM8, and blocked menthol-induced responses in capsaicin-and mustard oil-insensitive trigeminal neurons.

cold


Input: We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myopathy and 2 patients with sporadic disease and analyzed the desmin gene for mutations, using complementary DNA (cDNA) amplified from muscle-biopsy specimens and genomic DNA extracted from blood lymphocytes.

desmin

desmin-related myopathy

desmin

desmin-related myopathy


Input: These results reveal a tumor suppressor role of p27 in chronic hepatocyte injury-induced liver tumorigenesis and, at the same time, the need to further study the mechanisms for tumor promotion by p27 inactivation.

tumorigenesis


Input: Conversely, 5-HTTVNTR influences the risk of developing BPSD or aggressiveness and genetic variations in the 5-HTT gene may be involved in the development of symptomatology for mild AD.

aggressiveness


Input: A broad spectrum of KUTM was discovered in association with AMT: adult dominant polycystic kidney disease, unilateral renal agenesis, cystic renal dysplasia, familial renal cysts, and congenital stenosis of the pyeloureteral joint.

AMT

cystic renal dysplasia


Input: The novel KCNQ1 mutation R259C is the molecular basis for I (Ks) dysfunction underlying an apparently sporadic case of hypokalemia-induced LQTS, consistent with a mild mutation likely to disclose the clinical manifestation of LQTS in a context of severe hypokalemia.

sporadic


Input: Muscle wasting in a rat model of long-lasting sepsis results from the activation of lysosomal, Ca2 +-activated, and ubiquitin-proteasome proteolytic pathways.

sepsis


Input: Literature search was conducted on PubMed using combinations of the following terms: ABC transporters, ATP binding cassette transporter proteins, inflammatory bowel disease, ulcerative, colitis, Crohn' s disease, colorectal cancer, colitis, intestinal inflammation, intestinal carcinogenesis, ABCB1/P-glycoprotein (P-gp/CD243/MDR1), ABCC2/multidrug resistance protein 2 (MRP2) and ABCG2/breast cancer resistance protein (BCRP), Abcb1/Mdr1a, abcc2/Mrp2, abcg2/Bcrp, knock-out mice, tight junction, membrane lipid function.

ulcerative


Input: We conclude that subtle variants that are central in functionally important domains of POLR2A cause a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay through a dominant-negative effect on pol-II-mediated transcription of DNA.

hypotonia

hypotonia


Input: Using transient transfection of VEGF promoter-reporter constructs, serum starvation led to an increase in VEGF promoter activity.

VEGF

starvation


Input: In the present study, we have investigated all the genes involved in the melatonin pathway by mutation screening of AA-NAT (arylalkylamine N-acetyltransferase), ASMT, MTNR1A, MTNR1B (melatonin receptor 1A and 1B) and GPR50 (G protein-coupled receptor 50), encoding both synthesis enzymes and the three main receptors of melatonin, in 109 patients with autism spectrum disorders (ASD).

NAT

autism spectrum disorders


Input: Under the hypoxic culture condition, RT-PCR analysis showed that 10% CWQ serum had down-regulated the expression of VEGF by 45. 87%, and the result of Western blot analysis provided further evidence.

VEGF

hypoxic


Input: We have studied immunological features of 200 cases of acute leukemia (109 acute myelogenous leukemia, AML, and 91 acute lymphoblastic leukemia, ALL, according to FAB criteria), including 17 (8. 5%) classified as biphenotypic by a scoring system based on the number and specificity of unexpected lineage antigens and which gives more weight to cytoplasmic markers such as myeloperoxidase, CD3, and CD22, and less to other membrane markers.

weight


Input: Specific CXCL9 variants were associated with liver fibrosis in mice and humans; CXCL9 serum concentrations correlated with genotypes and levels of fibrosis in patients.

fibrosis


Input: This study examined the expression of the bcl-2 t (14; 18) translocation, the bcl-10 gene, and high expression of bcl-6 mRNA in PIOL cells.

translocation


Input: The phenotypic profile of patients with DVC differs from that of AD patients in the following: (a) anthropometric values, (b) cardiovascular function, (c) blood pressure, (d) lipid metabolism, (e) uric acid levels, (f) peripheral calcium levels, (g) liver function (GOT, GPT, GGT), (h) alkaline phosphatase, (i) lactate dehydrogenase, (j) red and white blood cells, (k) regional brain atrophy (left temporal region, inter-hippocampal distance) and (l) brain blood flow velocity.

GPT

blood pressure


Input: Intravenous injection of artemetin (0. 75 mg/kg) significantly reduced the hypertensive response to angiotensin I while increased the average length of bradykinin-induced hypotension. Artemetin (1. 5 mg/kg, p. o.) was also able to reduce plasma (about 37%) and vascular (up to 63%) ACE activity in vitro, compared to control group.

bradykinin

hypotension

bradykinin

hypotension


Input: HIP expression was particularly abundant in the anaplastic carcinoma-derived cell lines.

HIP

anaplastic carcinoma


Input: Tissue specimens derived from patients with obstructive HCM and aortic stenosis (AS) showed a universal defect of vinculin/metavinculin expression in the intercalated disc but preserved expression in the cardiac Z-disc, whereas tissue specimens derived from patients with either DCM, hypertensive heart disease (HTN), or pulmonary hypertension (PHTN) exhibited normal expression of vinculin/metavinculin in both the Z-and the intercalated disc despite being associated with hypertrophy.

metavinculin

aortic stenosis


Input: However, BRCA1-stimulated network contained BRCA1 activation with endothelium-specific to lysosomal transmembrane and carbamoyl synthetase to tastin, histone cluster and cyclin-induced growth, whereas the corresponding inhibited different complete network included BRCA1 repression with ovalbumin, thyroid stimulating hormone beta and Hu antigen C to cytochrome P450 to transducin-induced inflammation in higher HCC.

Hu antigen C

inflammation


Input: Patients lacked mutations in other genes known to cause ACTH resistance, including AAAS for patients diagnosed with triple A syndrome and MC2R and MRAP for patients diagnosed with familial glucocorticoid deficiency.

MRAP

familial glucocorticoid deficiency


Input: The prevalence of comorbid psychiatric disorders, including major depression, eating disorder, panic disorder, and borderline personality disorder, was significantly higher in female alcoholics with inactive ALDH2 or superactive ADH1B than in those with active ALDH2 or normal ADH1B.

borderline personality disorder


Input: VEGF mRNA and protein levels of two rat glioma cells lines, C6 and GS-9L, were determined after incubation with dexamethasone under normoxic and hypoxic conditions.

VEGF

hypoxic


Input: Follicular lymphoma is characterized by the t (14; 18) translocation resulting in constitutive expression of BCL-2 protein; however approximately 10-15% of follicular lymphomas do not express BCL-2 protein, and a small fraction of these cases does not exhibit translocation of the BCL-2 gene either.

BCL-2 gene

translocation


Input: GEF-H1 is important for the growth and survival of HRAS (V12)-transformed cells and pancreatic tumor xenografts.

pancreatic tumor


Input: We developed a nonallele-specific adeno-associated virus (AAV)-based RNAi knockdown strategy to rescue the retina degeneration caused by GCAP1 mutations.

AAV

retina degeneration


Input: We analyzed relationship between the A-3826G polymorphism and body mass index (BMI) or six biochemical parameters, serum concentration of total cholesterol (TC), high density lipoprotein (HDL) cholesterol, triglyceride (TG), asparatate aminotransferase (AST), alanine aminotransferase (ALT), fasting plasma glucose.

AST

body mass index


Input: Assessment of MGMT expression in neoplastic tissue required careful scrutiny because of its expression in a variety of non-neoplastic cells.

MGMT

non-neoplastic


Input: Our results indicate that mutations of the tyrosine kinase domain of the MET gene may be involved in the acceleration of the carcinogenesis in childhood HCC.

MET

HCC

MET

HCC


Input: Interestingly, ESRD-RBC induced increased expression of adhesion molecules was prevented by Annexin-V (AnV, able to mask PS on RBC surface), anti-integrin-alpha (v) beta3, anti-thrombospondin-1 (TSP-1), and PD98059 (a selective inhibitor of MAPK phosphorylation).

adhesion


Input: HPLC analysis of the RA content of 0. 1% RA-treated skin in vivo revealed significant levels at 6 h (18. 8-120. 6 ng RA/g wet weight tissue; approximately 240 nM), immediately preceding the time point at which the increased RIS-1 mRNA level was first seen.

RIS

weight


Input: In an earlier study, we used immunohistochemical detection of epithelial membrane antigen expression with flow cytometric detection of DNA aneuploidy to reduce the number of false negatives.

epithelial membrane antigen

aneuploidy


Input: Cells lacking ATM kinase activity exhibit a significant decrease in the insulin-induced dissociation of 4E-BP1 from eIF-4E.

ATM

dissociation


Input: The absence of biochemical abnormalities in the heterozygous individuals suggests that one normal allele is sufficient for secretion of intact FGF23.

abnormalities


Input: Olivopontocerebellar atrophy with retinal degeneration. Fundus characteristics and diagnostic MRI findings.

MRI

retinal degeneration


Input: To determine whether polymorphisms in NFKBIA, NFKBIB, and NFKBIE associate with susceptibility to invasive pneumococcal disease (IPD) and thoracic empyema.

NFKBIB

thoracic empyema


Input: Significant differences in mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH) and HbA2 were found between the two groups.

MCH

mean corpuscular volume


Input: GSNOR SNPs were not associated with the degree of atopy.

GSNOR

atopy


Input: The aim of our work was to study the association of genetic polymorphisms in genes involved in oxidative metabolism and detoxification mechanism, namely GSTM1, GSTT1, GSTP1, and those involved in DNA damage repair, OGG1 and XRCC1, in an Italian cohort of sporadic PD patients.

sporadic


Input: ], corresponding to a truncated alphaR654Dstop subunit, was previously described in patients with retinitis pigmentosa: when expressed in HEK-293 cells, this mutated a subunit was retained inside the cell, but had normal channel activity in one case where it reached the plasma membrane, indicating that the mechanism of targeting is altered by the mutation, but not the function of the channel.

HEK

retinitis pigmentosa


Input: Of 289, 639 SNPs tested, a variant in the CUB and Sushi multiple domains 1 (CSMD1) gene (rs11136645; MAF = 0. 49), was significantly associated with decreased scar height (regression coefficient =-0. 23, P = 7. 9 × 10).

regression


Input: Although the underlying mechanisms are still unclear, our findings are consistent with a complex relationship between height, hypertension, GH1 promoter haplotype, GHR polymorphism and the risk of stroke.

height


Input: These findings support CD1 genotype and protein expression as important risk markers for laryngeal cancer and suggest future trials targeting upstream regulators of CD1 transcription.

laryngeal cancer


Input: A series of 80 archival samples, including 20 squamous cervical carcinomas (SCC) 54 cervical intraepithelial neoplasia (CIN) lesions and 6 normal cervical tissues, were subjected for c-FLIP immunohistochemical staining and HPV HC-II analysis.

HC-II

carcinomas


Input: Highly invasive, brain-metastatic melanoma cells (70W) were transfected with the dominant-negative CREB (KCREB) and subsequently analyzed for changes in their HPSE-1 content, functionality, and cell invasive properties.

CREB

metastatic melanoma


Input: The expression of RhoC was significantly higher in gastric cancer tissues (23/42, 54. 8%) than in non-tumorous tissues (p < 0. 01).

RhoC

gastric cancer


Input: A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

Meckel Gruber syndrome

Meckel Gruber syndrome


Input: Unexpectedly the CLP 57-65 peptide, to which IgE was found in only 2 healthy donors, but not the other two peptides, was found to elicit an immediate-type hypersensitivity in all 10 healthy volunteers tested.

CLP

hypersensitivity


Input: CD4 + T cells and cytokines in the pathogenesis of acquired myasthenia gravis.

myasthenia gravis


Input: The miRNAs differentially expressed in HCV-related HCC were investigated by comparing the tumorous tissues to a wide range of liver specimens, including healthy livers obtained from liver donors and patients who underwent liver resection for angioma, in addition to tissues from various acute and chronic liver diseases, including HCV-related cirrhosis not associated with HCC, HCV-related cirrhosis associated with HCC and HBV-associated acute liver failure.

HCC

liver diseases


Input: Apelin induces enlarged and nonleaky blood vessels for functional recovery from ischemia.

Apelin

ischemia


Input: Taken together, our data suggest the inclusion of the KCNJ2 gene in the molecular screening of patients with periodic paralysis, even when the classical AS dysmorphic features are not present.

AS

AS


Input: Thus, in the hypoxic conditions, OCT4 and SOX2, both of which are induced by HIF1α/HIF2α.

hypoxic


Input: Blockage of nerve growth factor (NGF) by anti-NGF antibodies can inhibit allergic airway hyper-responsiveness in mice.

NGF

airway hyper-responsiveness


Input: The aim of this study was to examine the expression of p18INK4C in various liver diseases including HCC and to assess its clinical significance in HCC.

HCC

liver diseases


Input: The associations between genetic polymorphisms in genes from the IGF pathway on mammographic density and circulating levels of IGF1, its binding protein IGFBP3, and their ratio in postmenopausal women are reported here.

mammographic density


Input: Nevertheless, the mechanism by which DeltaNp63alpha might promote tumorigenesis remains poorly understood, and data from mouse models implies that the p63 locus might in fact function as a tumor suppressor in these same tissues.

tumorigenesis


Input: P-gp levels were 70% and 95% lower in brain metastases from melanomas and lung adenocarcinomas, respectively, than in normal brain tissue.

P-gp

brain metastases


Input: The LMO1 and LDB1 proteins interact in human T cell acute leukaemia with the chromosomal translocation t (11; 14) (p15; q11).

chromosomal translocation


Input: At 4 h following pilocarpine-induced seizures, expression of NGF, BDNF, HB-EGF, and FGF-2 increased only in the mice manifesting tonic-clonic convulsions and not in mice without seizures.

BDNF

tonic-clonic convulsions

BDNF

tonic-clonic convulsions


Input: and c. 643C > T [p. Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoacidosis and insulin-responsive hyperglycemia.

cytochrome c1

ketoacidosis


Input: The recurrent t (12; 21) (p12; q22) translocation fuses two genes, TEL and AML1, that have previously been shown to be independently involved in myeloid malignant proliferations.

translocation


Input: Mutations in PROP1 are the most frequent defect detected in patients with combined pituitary hormone deficiency (MIM #262600), characterized by a clinical phenotype of proportionate growth deficit due to impaired production of growth hormone in combination with deficiency of one or more of the additional anterior pituitary hormones.

MIM

combined pituitary hormone deficiency


Input: Local arterial knockdown of the Cybb gene significantly inhibited neointimal hyperplasia and preserved the vessel lumen without systemic toxicity.

Cybb gene

hyperplasia


Input: Administration of an adenoviral vector encoding for HIF-1alpha/VP16, a hybrid transcription factor that is stable in hypoxic and normoxic conditions, restored VEGF expression and completely reversed the cigarette smoke inhibition of angiogenesis in hypoxic conditions.

VEGF

hypoxic


Input: Factor V Leiden (FVL) mutation is a risk factor for venous and, to a degree, arterial thrombosis.

Factor V Leiden

arterial thrombosis


Input: Mice with cardiac-restricted angiotensin-converting enzyme (ACE) have atrial enlargement, cardiac arrhythmia, and sudden death.

angiotensin-converting enzyme

sudden death

angiotensin-converting enzyme

sudden death


Input: EWS gene rearrangements, present in essentially 100% of Ewing' s Sarcoma/peripheral primitive neuroectodermal tumor, were evaluated by FISH on frozen sections (FS) of tumor biopsies from 10 patients, plus a negative control, and in seven other malignant neoplasms of childhood.

FISH

peripheral primitive neuroectodermal tumor


Input: Numbers of IL-6 mRNA-expressing cells were higher in patients with clinical AIDS than in asymptomatic seropositive patients, and correlated inversely with CD4 + cell counts in blood, reflecting the involvement of IL-6 in later stages of HIV infection.

asymptomatic


Input: Immunohistochemical analysis showed that the expression of AGK significantly correlated with patients' clinicopathologic characteristics, including clinical stage and tumor-nodule-metastasis (TNM) classification.

AGK

nodule


Input: We conclude that the KBM-7 cell line will be of value for investigating molecular events underlying neoplastic transformation in CML, in particular for studying the effects of BCR-ABL and ABL-BCR on the proliferation of CML cells in the absence of normal BCR and c-ABL messages.

BCR

neoplastic transformation


Input: EGFR-activating mutations are more frequent in females, adenocarcinoma and non-smokers patients, and KRAS mutations are more frequent in smoking patients.

EGFR

smoking


Input: Aged Mstn null (Mstn (-/-)) muscles, which display reduced sarcopenia, also show an increased basal antioxidant enzyme (AOE) levels and lower NF-κB levels indicating efficient scavenging of excess ROS.

NF-κB

sarcopenia


Input: This study was purpose to investigate the frequency of HLA-DRB1 * 15 expression in children with aplastic anemia (AA) and its relation to effect of immunosuppressive therapy.

anemia


Input: Secondary HPT is a common complication of renal failure.

HPT

renal failure


Input: The dic (17; 18) (p11. 2; p11. 2) was associated with a complex (three or more unrelated cytogenetic abnormalities) karyotype in 12 patients (75%) at the time that the abnormality was first identified, and eventually associated with a complex karyotype in 94% of patients.

cytogenetic abnormalities


Input: We characterized the genetic defects in all affected families and found all patients affected by citrullinemia type 1 due to mutations of the ASS gene.

ASS

citrullinemia type 1

ASS

citrullinemia type 1


Input: On isolated DNA, microsatellite instability (MSI) and immunohistochemistry of MMR proteins were assessed.

MMR

microsatellite instability


Input: By contrast, early-onset vincristine-induced peripheral neuropathy was characterised by upregulation of genes involved in cell cycle and proliferation, including AURKA (3 & #183; 31 times; p = 1 & #183; 04 & #215; 10 (-2)) and MKI67 (3 & #183; 66 times; p = 1 & #183; 82 & #215; 10 (-3)), and the presence of SNPs in genes involved in these processes-eg, GLI1 (rs2228224 [0 & #183; 13, 0 & #183; 02-0 & #183; 97, p = 1 & #183; 18 & #215; 10 (-2)] and rs2242578 [0 & #183; 14, 0 & #183; 02-1 & #183; 12, p = 3 & #183; 00 & #215; 10 (-2)]).

AURKA

peripheral neuropathy

AURKA

peripheral neuropathy


Input: These results provide further support for a causative role for GFAP mutations in Alexander disease, and suggest DNA sequencing as an alternative diagnostic to biopsy.

GFAP

Alexander disease

GFAP

Alexander disease


Input: TLR2, TLR4, and iNOS expression was significantly (P < 0. 05) higher in C. trachomatis-positive women with FD, MPC, and asymptomatic women, respectively, than in control.

asymptomatic


Input: Blockade of Dll4-Notch signaling using neutralizing anti-Dll4 antibody attenuated the development of atherosclerosis, diminished plaque calcification, improved insulin resistance, and decreased fat accumulation.

plaque


Input: Expression of MR was demonstrated in VAT, with no difference between APA and NFA as to mRNA levels of MR, GRalpha, HSD11B1, and glucose metabolism and inflammation factors.

APA

inflammation


Input: Thus, Pin1 is an essential regulator of TRF1 stability, telomere maintenance and ageing.

ageing


Input: This longitudinal MRI study establishes unequivocally that, in the experimental murine model of ALS, muscle degeneration occurs before any evidence of neurodegeneration and clinical signs, supporting the postulate that motor neuron disease can initiate from muscle damage and result from retrograde dying-back of the motor neurons.

MRI

muscle degeneration


Input: Reduced GST alpha expression was significantly associated with steatosis in HCA and HCC (n = 12, p = 0. 006), but not in non-neoplastic liver tissue.

HCC

non-neoplastic


Input: Here we investigated whether specific inhibition of Rac1 by NSC23766 is as effective as lovastatin in preventing subacute cardiotoxicity following doxorubicin treatment.

cardiotoxicity

cardiotoxicity


Input: Here we report the first study that tries to replicate this finding and we provide further evidence that IRF6 contributes to isolated tooth agenesis.

tooth agenesis


Input: Inhibition of BMP4 and TGF-β by noggin and SB-431542, respectively, mimicked the FTS-mediated effects on adhesion, spreading, and cell morphology.

FTS

adhesion


Input: Specimens from 40 breast cancer patients (tumor tissues, adjacent normal tissues), 15 fibroadenoma were detected for their expression of the Syk gene and level of Syk mRNA by semi-RT-PCR technique.

Syk gene

fibroadenoma


Input: Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation.

somatic mutation


Input: Here, we describe a balanced translocation between chromosome 9 and an X chromosome that disrupts the minor fibrillar collagen type V gene COL5A1 in a patient with both EDS type I and hypomelanosis of Ito.

translocation


Input: In contrast, we observed Q209 mutations in GNAQ in 55% of blue nevi, 45% of uveal melanomas, and 22% of uveal melanoma metastases.

GNAQ

uveal melanoma

GNAQ

uveal melanoma


Input: Down-regulation of ADAMTS1 was observed in 30% (3/10) of the NSCLC cell lines, and this down-regulation was found to be concordant with aberrant methylation of the gene.

NSCLC

NSCLC


Input: Genes associated with both the β-catenin dependent (AXIN2, MYC, CSNK1A1) and independent arms (ROR2, JUN), as well as general Wnt secretion (PORCN) of the Wnt signalling pathway were upregulated in the TamR cells compared to the parental MCF7 cell line.

JUN

arms


Input: In vitro, the mutant protein is constitutively activated through disruption of an autoinhibitory domain in the wild-type protein, indicating that loss of WASP autoinhibition is a key event in XLN.

WASP

XLN

WASP

XLN


Input: However, the significance of the altered TGF-beta signaling in heart failure in the chronic phase of post-myocardial infarction (MI), particularly in the ongoing remodeling of the infarct scar, remains unexplored.

TGF-beta

infarct


Input: When diabetic complication were analysed as a whole, miR-126-3p and miR-21-5p levels declined significantly from CTR to T2DM NC and T2DM C patients.

CTR

diabetic complication


Input: Some cytogenetic anomalies present in UBC were found in the three cell lines, such as chromosome 20 aneuploidy and the loss of 9p21.

UBC

aneuploidy


Input: Here we show that lithium, a pharmacological agent used for the management of psychiatric disorders such as bipolar disorder, schizophrenia, and depression, regulates Akt/glycogen synthase kinase 3 (GSK3) signaling and related behaviors in mice by disrupting a signaling complex composed of Akt, beta-arrestin 2, and protein phosphatase 2A.

beta-arrestin 2

bipolar disorder

beta-arrestin 2

bipolar disorder


Input: Analysis of patients without C21orf2 mutation indicated genetic heterogeneity of axial SMD.

axial SMD

axial SMD


Input: Using logistic regression, when we adjusted for waist circumference, two SNPs (rs11465886, IRAK2, chromosome 3, OR = 3. 91, P value = 1. 10 × 10 (-04); and rs17751769, SERPINA1, chromosome 14, OR = 1. 96, P value = 2. 42 × 10 (-04)) associated positively with a CAC score of > 0 Agatston unit; one SNP (rs630014, ABO, OR = 0. 51, P value = 2. 51 × 10 (-04)) associated negatively; none remained significant after correcting for multiple testing.

ABO

waist circumference


Input: Antitumor effects of PLGA nanoparticles encapsulating the human PNAS-4 gene combined with cisplatin in ovarian cancer.

ovarian cancer

ovarian cancer


Input: We link early renal hypertrophy with significant reduction in PTEN expression in the streptozotocin-induced diabetic kidney cortex and glomeruli, concomitant with activation of Akt.

PTEN

renal hypertrophy


Input: We have evaluated seven MEFV mutations in 460 chromosomes of 230 unrelated patients with FMF living in Turkey, using PCR methods.

MEFV

FMF

MEFV

FMF


Input: Circulating anti-nephrin antibodies seem to have a pathogenic role in the development of heavy proteinuria in kidney grafts of NPHS1 patients with Fin-major/Fin-major genotype.

heavy proteinuria


Input: A potential role for sterol 27-hydroxylase in atherogenesis.

sterol 27-hydroxylase

atherogenesis

sterol 27-hydroxylase

atherogenesis


Input: In the unilateral ureteral obstruction model, we observed higher PGC-1α protein expression and IHG-1 levels with fibrosis.

fibrosis


Input: Our findings provide strong evidence that SEMA3D confers susceptibility to schizophrenia, which could contribute to the neurodevelopmental impairments in the disorder.

schizophrenia

schizophrenia


Input: Our objective was to evaluate whether polycystic ovarian syndrome (PCOS)-associated infertility is related to alterations of leptin, leptin receptor (Ob-R), and the phosphorylated signal transducer and activator of transcription 3 (p-STAT3)/suppressor of cytokine signal 3 (SOCS3) system in the ovary.

infertility


Input: A magnetic resonance imaging (MRI) revealed abnormal high intensities in the putamen and globus pallidi on T2-weighted images when he was 6 months old, and more diffuse abnormal signal intensities over bilateral hemispheres were noted when he was 3 years old.

MRI

globus


Input: The HIF-1α-p75NTR-EMT axis may play a central role in glioma tumorigenesis.

tumorigenesis


Input: This is the first study to report an association between FOXP3 polymorphisms and endometriosis and/or infertility.

infertility


Input: We demonstrated that positive CD146 expression, and average microvessel and lymph vessel counts in gallbladder adenocarcinomas were significantly higher than those in peritumoral tissues, polyps, and chronic cholecystitis (ps < 0. 01).

polyps


Input: The significant difference of infarction areas on day 3 was detected only between the MSC-HGF group and the PBS group with the superacute treatment, but was detected among each group on day 14 with both transplantations.

MSC

infarction


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

clusterin

AKI

clusterin

AKI


Input: These findings suggest that AC3 plays an important role in the regulation of body weight.

body weight


Input: In the present study, we investigated the antitumor effect of a novel hypoxic cytotoxin, 3-[2-hydroxyethyl (methyl) amino]-2-quinoxalinecarbonitrile 1, 4-dioxide (TX-2098) in inhibiting the expression of hypoxia inducible factor-1α (HIF-1α), and consequently vascular endothelial cell growth factor (VEGF) expression in pancreatic cancer.

VEGF

hypoxic


Input: With contrast enhanced magnetic resonance imaging (MRI) we can detect more cases of TMJ arthritis than ever before.

MRI

arthritis


Input: IGF-I gene polymorphisms are associated with birth weight in some studies but not in all.

IGF-I

birth weight


Input: Functionally, knockdown of ERRF in two ER-positive breast cancer cell lines, T-47D and MDA-MB-361, suppressed cell growth in vitro and tumorigenesis in xenograft models.

ERRF

tumorigenesis


Input: This study offers the first in vivo evidence of a critical role for intracellular signaling pathways downstream of the ShcA PTB domain, which both positively and negatively regulate tumorigenesis during various stages of breast cancer progression.

ShcA

tumorigenesis


Input: We hypothesized that breast tumor-associated macrophages produce VEGF and that macrophage production of this factor is regulated by both hypoxia and TGFbeta-1.

VEGF

hypoxia


Input: To elucidate the role of Hsp20 in DOX-triggered cardiac toxicity, Hsp20 was first overexpressed ex vivo by adenovirus-mediated gene delivery.

adenovirus


Input: As far as is known, the present study is the first to identify a potential association between POU5F1 and the development of POF.

POF

POF


Input: Relaxin 3 (RLN3, also known as INSL7) is a recently identified member of the insulin/relaxin superfamily that plays a role in the regulation of appetite and body weight control.

body weight


Input: As expected the therapeutical effect of PSD was only transient and most patients experienced an exacerbation of depressive symptoms on day 2.

PSD

depressive symptoms


Input: In total, the genes CNRIP1, FBN1, INA, MAL, SNCA, and SPG20 were methylated in 53%, 23%, 52%, 69%, 97%, and 92% of the tumor samples, respectively, and were unmethylated in all healthy controls.

tumor


Input: Individuals with tuberous sclerosis complex (TSC) develop astrocytoma-like tumors resulting from mutations in the TSC2 protein, tuberin, which is hypothesized to function as a Rap1 GTPase activating protein (GAP).

Rap1 GTPase activating protein

astrocytoma


Input: We have previously shown significantly more DYRK1A-positive NFTs in DS brains than in sporadic Alzheimer disease (AD) brains.

sporadic


Input: Inhibition of Shp2 activity through AKAP-Lbc-anchored PKA is a previously unrecognized mechanism that may promote pathological cardiac hypertrophy.

AKAP-Lbc

cardiac hypertrophy


Input: We conclude that Gas6-induced Axl signaling is a critical driver of pancreatic cancer progression and its inhibition with low-dose warfarin or other Axl-targeting agents may improve outcome in patients with Axl-expressing tumors.

Axl

pancreatic cancer

Axl

pancreatic cancer


Input: Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1.

white matter disease


Input: Functional consequences of LMWPTP overexpression or downregulation were determined using migration and adhesion assays, confocal microscopy, Western blotting, and proliferation assays.

LMWPTP

adhesion


Input: TAR-DNA-binding protein-43 (TDP-43) C-terminus encodes a prion-like domain widely presented in RNA-binding proteins, which functions to form dynamic oligomers and also, amazingly, hosts most amyotrophic lateral sclerosis (ALS)-causing mutations.

DNA-binding protein

amyotrophic lateral sclerosis


Input: Functional comparison of PRSS1 variants found in sporadic and hereditary cases is needed to resolve this dilemma.

sporadic


Input: Furthermore, although both PTCH1 and SUFU play a key role in the sonic hedgehog signalling pathway, PTCH1 does not make an appreciable contribution to non-familial sporadic medulloblastoma, whereas inactivating germline mutations of SUFU cause ~ 2-3% of sporadic medulloblastomas and > 10% of desmoplastic medulloblastomas.

SUFU

sporadic


Input: We sought to further investigate the contribution of germline PTCH1 and SUFU mutations to familial and sporadic medulloblastoma.

SUFU

sporadic


Input: Here, we describe two distinct PIEZO2 mutations in patients with a subtype of Distal Arthrogryposis Type 5 characterized by generalized autosomal dominant contractures with limited eye movements, restrictive lung disease, and variable absence of cruciate knee ligaments.

restrictive lung disease


Input: These may, in part, explain the decreased omentin-1 levels observed in our overweight women with PCOS.

omentin

overweight


Input: The depletion of IQGAP1 expression by siRNA significantly blocked the proliferative activity of constitutively active RhoC, while RhoC silencing by siRNA had no effect on IQGAP1-induced proliferation in gastric cancer cells.

RhoC

gastric cancer


Input: Recurrent group A Streptococcus (GAS) tonsillitis and associated autoimmune diseases indicate that the immune response to this organism can be ineffective and pathological.

GAS

autoimmune diseases


Input: In hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, more than 90% of the carcinomas show microsatellite instability (MSI) due to a loss of mismatch repair (MMR) function.

MMR

microsatellite instability


Input: RHOA G17V-mutated cases had a significantly higher incidence of splenomegaly and B symptoms at diagnosis, but there was no difference in overall survival between mutated and wild-type subgroups.

RHOA

splenomegaly


Input: Taken together, our results demonstrated that 6-shogaol enhances TRAIL-mediated apoptosis in renal carcinoma Caki cells via ROS-mediated cytochrome c release and down-regulation of c-FLIP (L) expression.

cytochrome c

renal carcinoma


Input: This translocation fuses two genes, TEL and AML1, and results in the production of the TEL-AML1 fusion protein.

translocation


Input: Furthermore, the presence of EML4-ALK appears to be mutually exclusive for EGFR and KRAS mutations (P = 0. 00018), whereas coexisting with TP53 mutations at a low frequency (1/11 = 9. 1%), and correlating with non-or light smoking (P = 0. 040), in line with the TTF-1 immunoreactivity.

EGFR

smoking


Input: Polymorphisms in the proinflammatory cytokine genes tumor necrosis factor-alpha (TNF) and lymphotoxin-alpha (LTA, also called TNF-beta) have been associated with asthma and atopy in some studies.

TNF

atopy


Input: Apelin and apelin receptor levels were independently predicted by body mass index.

Apelin

body mass index


Input: There were no significant differences in the genotype and allele distributions for any of five SNPs in the IKAP gene (T819C, G2295A, A2490G, T3214A and C3473T) between patients with atopic asthma or other atopic diseases and healthy controls.

IKAP

atopic


Input: Genetic ablation of VIAAT in glycinergic neurons causes a severe respiratory phenotype and perinatal death.

VIAAT

perinatal death


Input: Since the lifelong persistence of B19 DNA in bone marrow, skin, synovia, tonsils, and liver was previously reported, the aim of our study was to investigate the possibility of asymptomatic B19 DNA persistence in heart tissue.

asymptomatic


Input: There is compelling evidence to indicate an important role for increased local renin-angiotensin system activity in the pathogenesis of cardiac hypertrophy and heart failure.

renin

cardiac hypertrophy

renin

cardiac hypertrophy


Input: Pro-inflammatory pathways activated by interferon gamma (IFNγ) and toll-like receptor 4 (TLR4) ligands are profoundly involved in plaque formation and have been shown to involve cross-talk in all atheroma-interacting cell types leading to increased activation of signal transducer and activator of transcription-1 (STAT1) and elevated expression of pro-inflammatory mediators.

interferon gamma

atheroma


Input: Current-smoking and the ALDH2 * 2 allele additively increased the risk of MI (adjusted odds ratio 4. 54, 95% confidence interval 2. 25-9. 15), although this combination was not associated with the risk of SA.

smoking


Input: The identification of the proteins that form tip links have shed new light on the molecular basis of MET and the mechanisms causing hereditary deafness, noise-induced hearing loss and presbycusis.

MET

presbycusis


Input: Interestingly, RNAi-mediated knockdown of RIP1 expression is sufficient to sensitize human breast tumor cells to TRAIL-induced apoptosis through a NF-kappaB-independent, mitochondria-operated pathway.

breast tumor


Input: Pseudomonas aeruginosa keratitis destroys the cornea in susceptible Th1 responder C57BL/6 (B6), but not resistant Th2 responder (BALB/c) mice.

keratitis


Input: We hypothesized that the OPG/RANK/RANKL axis could be involved in the pathogenesis of heart failure (HF), and this hypothesis was investigated in both experimental and clinical studies.

RANKL

heart failure


Input: Taken together, our data suggest that RTP801 is an important RA-regulated gene involved in myeloid differentiation, which could represent a therapeutic target in leukemia.

leukemia

leukemia


Input: The early stimulatory and late inhibitory effect exerted by IL-6 and TGF-beta respectively on fibrinogen mRNA level may play a role in the regulatory mechanism (s) of clot formation in a variety of conditions.

TGF-beta

fibrinogen


Input: Brca1 (-/-) BM cells also show FA-like hypersensitivity to the DNA crosslinking agent mitomycin C, and karyotypes feature genomic instability.

genomic instability


Input: We have extended our LOH analysis of chromosome 3p to include 102 ovarian tumor specimens (29 and 73 samples were previously examined for LOH of chromosome 3p and 17 markers, respectively), using additional polymorphic markers, to assess the coordinate LOH of loci representing the three chromosome 3p minimal regions of deletions [von Hippel-Lindau syndrome (VHL), thyroid hormone receptor beta, and fragile histidine triad (FHIT)] and LOH of other important loci [tumor protein 53 (TP53), breast cancer 1 early onset (BRCA1), breast cancer 2 early onset, retinoblastoma 1, ornithine carbamoyltransferase, and androgen receptor] or somatic mutations in TP53.

ornithine carbamoyltransferase

ovarian tumor


Input: Loss of CDX2 expression and microsatellite instability are prominent features of large cell minimally differentiated carcinomas of the colon.

microsatellite instability


Input: Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

VHL

Von Hippel-Lindau disease

VHL

Von Hippel-Lindau disease


Input: Among normal-weight patients only, both carriers of the APE1 148Glu and the XRCC1 399Gln alleles had decreased risk of acute skin reactions after radiotherapy (HR, 0. 49 and 0. 51, respectively).

weight


Input: The seminal observations leading to these discoveries were the following: 1) mutations in FGF23 cause ADHR by limiting cleavage of the bioactive intact molecule, at a subtilisin-like protein convertase (SPC) site, resulting in increased circulating FGF23 levels and hypophosphatemia; 2) mutations in DMP1 cause ARHR, not only by increasing serum FGF23, albeit by enhanced production and not limited cleavage, but also by limiting production of the active DMP1 component, the C-terminal fragment, resulting in dysregulated production of DKK1 and β-catenin, which contributes to impaired bone mineralization; and 3) mutations in PHEX cause XLH both by altering FGF23 proteolysis and production and causing dysregulated production of DKK1 and β-catenin, similar to abnormalities in ADHR and ARHR, but secondary to different central pathophysiological events.

SPC

hypophosphatemia


Input: The aim of the present study was to assess the impact of the DIO2 Thr92Ala variant on type 2 diabetes (T2D), obesity, and related quantitative metabolic traits including measures of insulin resistance.

insulin resistance


Input: The prevalence of the Arg allele of the Arg16Gly polymorphism in the beta2-ADR gene was higher (49%) in males with a body mass index (BMI) of 35 kg/m2 or higher versus those with a BMI less than 35 kg/m2 (33%; P =. 010).

body mass index


Input: Promoter hypermethylation of HOXA9, RASSF1A, APC, CDH13, HOXB5, SCGB3A1 (HIN-1), CRABP1, and MLH1 was found in 51% (26/51), 49% (23/47), 24% (12/51), 20% (10/51), 12% (6/52), 10% (5/52), 4% (2/48), and 2% (1/51) of the carcinomas, respectively, whereas ADAMTS1, MGMT, NR3C1, p14ARF, and p16INK4a were unmethylated in all samples.

carcinomas


Input: The IL1RN expression level was lower in the OPL cases with severe dysplasia compared to those with mild/moderate dysplasia.

mild


Input: We analyzed 18 single nucleotide polymorphisms (SNPs) in the GAD2-gene region for associations with psychiatric diagnosis and behavioral inhibition (BI) derived from the personality traits neuroticism and extraversion as defined by the Eysenck Personality Questionaire (EPQ).

personality traits


Input: Trpm2-deficient mice exhibited mood disturbances and impairments in social cognition.

mood disturbances

mood disturbances