Input: In this study, we showed that the 15-PGDH-derived 15-keto-PGE2 is an endogenous peroxisome proliferator-activated receptor-γ (PPAR-γ) ligand that causes PPAR-γ dissociation from Smad2/3, allowing Smad2/3 association with the TGF-β receptor I and Smad anchor for receptor activation and subsequent Smad2/3 phosphorylation and transcription activation in human cholangiocarcinoma cells.

peroxisome proliferator-activated receptor-γ

dissociation


Input: Quantitative real-time PCR was performed for CCND2, PLAB, PCSK2, HGD1, TFF3, B4GALT, LGALS3, ETS1, ADM3, and TG in 150 thyroid specimens, including 52 benign thyroid nodules (28 follicular adenoma and 24 adenomatous nodules), 52 corresponding normal thyroid tissues, 20 follicular carcinomas, 20 papillary carcinomas, and six undifferentiated carcinomas.

follicular adenoma


Input: Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.

Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome


Input: Thus, a potential therapeutic role for CCK-A antagonists in the treatment of ethanol abuse and for CCK-B antagonists in the treatment of cocaine abuse is proposed.

CCK-B

cocaine abuse

CCK-B

cocaine abuse


Input: We demonstrate that overexpression of GLI2-β isoform, which lacks the N-terminal repressor domain (GLI2ΔN) in human keratinocytes is sufficient to induce numerical and structural chromosomal aberrations, including tetraploidy/aneuploidy and chromosomal translocations.

aneuploidy


Input: In AML, TET2 (del) occurred in CD34-positive hematopoietic precursors and preceded established genomic abnormalities, such as 5q-and-7/7q-, which were the most frequent associated changes (Fisher' s exact test P = 0. 000).

abnormalities


Input: Up-regulation of NDRG2 through nuclear factor-kappa B is required for Leydig cell apoptosis in both human and murine infertile testes.

infertile


Input: Our studies revealed nine affected individuals from four independent families in which IHH/KS is associated with inactivating CCDC141 variants, revealing a prevalence of 3. 3%.

KS

KS


Input: Because ER-α gene polymorphisms may exert different effects in childhood, in the present study we analyzed associations between the IVS1-397T > C polymorphism and indicators of inflammatory response as well as late complications in boys with type 1 diabetes mellitus (DM1).

α gene

type 1 diabetes mellitus


Input: Although hepatocytes and hepatic stellate cells (HSCs) showed respectively weak and intense NGF immunostaining in the background livers of patients suffering from liver cirrhosis (LC) or chronic hepatitis (CH), intense staining was demonstrated in HCC cells of 33 of 54 (61. 1%) tumors.

HCC

chronic hepatitis


Input: In a 4-day double-blind, randomized, placebo-controlled crossover study, we administered 80 mg daily dose of transdermal-T gel (TG) and evaluated endothelial variations with Endopat2000 (reactive hyperemia index, RHI and the augmentation index, AI); also, CAG repeat polymorphism in exon 1 of the androgen receptor gene was investigated.

androgen receptor gene

reactive hyperemia


Input: Within the last two years, genome-wide association (GWA) analyses have revealed a number of novel low-risk susceptibility variants for Parkinson' s disease, among them HLA-DRB5, BST1, ACMSD, STK39, MCCC1/LAMP3, SYT11, and CCDC62/HIP1R) and have confirmed LINGO1 as risk factor for essential tremor.

essential tremor


Input: mRNA isolated from immunomagnetically enriched CTCs was subjected to multiplex PCR for KRT19 (keratin 19; also known as CK19), ERBB2 [v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian); also known as HER2], SCGB2A2 (secretoglobin, family 2A, member 2; also known as MGB1, mammaglobin A), MAGEA3 (melanoma antigen family A, 3), TWIST-1 [twist homolog 1 (Drosophila)], and HMBS (hydroxymethylbilane synthase; also known as PBGD).

PBGD

melanoma


Input: The contribution of AQP7 to these abnormalities in humans is unknown.

abnormalities


Input: In conclusion, although we could not detect strong genetic evidence for association of common variants in MAGI2 and increased schizophrenia risk in a Japanese population, these SNPs may increase risk of cognitive impairment in schizophrenic patients.

schizophrenia

schizophrenia


Input: This study shows that elevated expression of Ki-67 is associated both with aggressive prostate cancers and with high Gleason score irrespective of whether their occurrence is against a background of BRCA1 or BRCA2 mutations or as sporadic disease.

sporadic


Input: The CHK2 gene, whose product is a checkpoint kinase that plays a central role in DNA damage response and acts upstream of TP53, has been found to be mutated in a subset of Li-Fraumeni syndrome without mutations of TP53 and in some other sporadic human tumors, earmarking this serine/threonine kinase as a candidate tumor suppressor gene.

sporadic


Input: Nuclear p53 protein was observed in 16% of the 31 in situ carcinomas, 22% of the 172 sporadic carcinomas, 34% of the 50 tumors from patients with familial breast cancer, 52% of the 23 tumors from patients with the familial breast and ovarian cancer syndrome, and all three tumors from two patients with the Li-Fraumeni syndrome.

Li-Fraumeni syndrome

sporadic


Input: We also found that CD47 activated the inflammatory genes IL-6, IL-7 and MCP-1 by a NF-κB-dependent mechanism in human astrocytoma but not in normal astrocytes.

astrocytoma


Input: Frequencies of-2548G > A LEP (rs7799039), Q223R (rs1137101) and K656N (rs8129183) LEPR, and-11377C > G (rs266729) and-11426A > G (rs16861194) ADIPOQ polymorphisms were analyzed by restriction fragment length polymorphism in 101 obese (standard deviation score [SDS]-body mass index [BMI] > 2) and 67 normal-weight (SDS-BMI <-1 + 1 >) children.

LEP

weight


Input: Our data suggest that the Ang/Tie-2 system is involved in the growth and development of metastases of GEP-NETs, and that favors the recruitment of Tie-2 (+) monocytes to the tumor site, where they can promote inflammation and angiogenesis.

inflammation


Input: The SUFU mutations were identified in two of the 16 individuals with desmoplastic medulloblastomas.

SUFU

desmoplastic medulloblastomas

SUFU

desmoplastic medulloblastomas


Input: In the Japanese population, sporadic late-onset Alzheimer' s disease (LOAD) cases had significantly higher frequencies of the A allele of alpha 1-antichymotrypsin (ACT) gene as well as the epsilon 4 allele of apolipoprotein E (APOE) gene than controls.

ACT

sporadic


Input: In the present study we investigated the effect of CRF (2) receptor activation with urocortin III on airway smooth muscle tone in vitro and in an acute model of airway inflammation in mice.

CRF (2

inflammation

CRF (2

inflammation


Input: Application of these findings to white matter injury (WMI) models revealed that Apcdd1 similarly promotes OL differentiation after gliotoxic injury in vivo and acute hypoxia ex vivo.

hypoxia


Input: Of these, four (Pten, Nmnat1, Slitrk2 and Otx2) were viewed as being crucial in the context of FASDs given their roles in the brain.

FASD

FASD


Input: Here, however, we observed that T-cell receptor (TCR) mono-/oligoclonal mature T cells from TCR transgenic (tg) mice (OT-I, P14) expressing the oncogenes NPM/ALK or ΔTrkA readily developed MTCLs in T-cell-deficient recipients.

ALK

mono


Input: In 81 sporadic gastric cancers, four mutations were detected in seven cases: one was a missense mutation and three were deletions; loss of heterozygosity at the ATBF1 locus was detected in 52. 9% of informative samples.

sporadic


Input: Activation of p53 mediated pathways in the glia of HAD patients may contribute to the neuroinflammatory processes that promote neurodegeneration by inhibiting glial proliferation and/or promoting glial cell dysfunction.

neurodegeneration


Input: MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism.

QKI

angiocentric glioma

QKI

angiocentric glioma


Input: Our findings suggest that metastatic prostate cancer cells create a metastatic niche by altering the phenotype of local stromal cells, leading to changes in the ECM.

ECM

metastatic prostate cancer


Input: Twenty-three cervical carcinomas and adjacent precursor lesions were stained with HLA-A-, HLA-B/C-, beta2-microglobulin-, TAP1-and TAP2-antibodies.

carcinomas


Input: A correlation between ATP5J expression and tumor differentiation was detected, but no correlation with gender, age, T stage, lymph node metastasis, or survival status was observed.

lymph node metastasis


Input: To study whether calcium-modulating proteins CASQ2, FKBP12. 6 and SERCA2a participate in diabetic cardiomyopathy, and whether the beneficial actions of testosterone, sildenafil or fructose diphosphate Sr (FDP-Sr) in the treatment of diabetic cardiomyopathy result from suppressing these molecules.

FDP

diabetic cardiomyopathy


Input: Triple-negative cancers also were shown to have more frequent loss of phosphatase and tensin homologue and mutation of RB1, which may contribute to genomic instability.

tensin

cancers


Input: Fifty-six patients exhibiting the STGD/FFM phenotype, 6 with arRP, and 8 with arCRD, were screened for mutations in the 50 exons of the ABCR gene by heteroduplex analysis and direct sequencing.

ABCR

STGD

ABCR

STGD


Input: Taken together, these results demonstrated that miR-129 suppressed tumorigenesis and progression by directly targeting PAK5, defining miR-129 as a potential treatment target for HCC.

tumorigenesis


Input: These results provide evidence that future therapeutic strategies against renal fibrosis should be accompanied by the modulation of the M1: M2 and T (H) 1: T (H) 2 balance, as T (H) 2 and M2 cells are predictive of fibrosis toward mechanisms that are sensed by innate immune response and triggered in a MyD88-dependent pathway.

fibrosis


Input: A large series (N = 846) of sporadic and familial cases originating from South Italy was screened for germline mutations in p16 (CDKN2A), BRCA2, and MC1R genes by DHPLC analysis and automated DNA sequencing.

sporadic


Input: No known genes were disrupted by the translocation breakpoints but several candidate TSGs (e. g., EPHB1, EPHA7, PPP2R3A RNF184, and STAG1) map within close proximity to the breakpoints.

translocation


Input: Oncogenic role of fibroblast growth factor receptor 3 in tumorigenesis of urinary bladder cancer.

fibroblast growth factor receptor 3

tumorigenesis


Input: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC, MIM 248250) is a complex renal tubular disorder characterised by hypomagnesaemia, hypercalciuria, advanced nephrocalcinosis, hyposthenuria and progressive renal failure.

MIM

nephrocalcinosis


Input: We have also investigated the effect of histamine H4 receptor antagonists on histamine H1 receptor antagonist-resistant pruritus using a mouse model.

histamine H4 receptor

pruritus

histamine H4 receptor

pruritus


Input: Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.

protective protein/cathepsin A

galactosialidosis

protective protein/cathepsin A

galactosialidosis


Input: Severe hypoinsulinaemia in diabetic LEW. 1AR1-iddm rats was associated with decreased body weight and increased melatonin plasma levels combined with mainly elevated expression of Aanat, Hiomt, pineal insulin receptor and adrenoceptor β1.

Aanat

body weight


Input: Subjects with a type-2 CALR mutation had lower hemoglobin concentrations (P = 0. 001), lower WBC counts (P < 0. 001), a higher percentage of blood blasts (P = 0. 009), and higher conventional (P < 0. 001) and Chinese-adjusted Dynamic International Prognostic Scoring System (P < 0. 001) scores compared with subjects with JAK2 mutations.

hemoglobin


Input: A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.

preproparathyroid hormone

familial isolated hypoparathyroidism

preproparathyroid hormone

familial isolated hypoparathyroidism


Input: Our results indicate that in Chinese Hans, common variants in CDKAL1, CDKN2A/B, IGF2BP2, and SLC30A8 loci independently or additively contribute to type 2 diabetes risk, likely mediated through beta-cell dysfunction.

beta-cell dysfunction


Input: The HAL-1/13-Ku80 antigen is present on the surface of leukemic and solid tumor cell lines, including T and B lymphomas, myeloid leukemias, neuroblastoma, rhabdomyosarcoma, and breast carcinoma cells.

HAL

neuroblastoma


Input: Tumor necrosis factor (TNF)-alpha caused insulin resistance on glucose uptake and GLUT4 translocation by impairing insulin stimulation of insulin receptor (IR) and IR substrate (IRS)-1 and IRS-2 tyrosine phosphorylation, IRS-associated phosphatidylinositol 3-kinase activation, and Akt phosphorylation.

TNF

translocation


Input: Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).


Input: Because renin is an important enzyme in blood pressure regulation, we studied the possibility that an alteration in the structure of the human renin gene is genetically linked to human essential hypertension or associated with levels of plasma renin activity or blood pressure.

renin gene

blood pressure


Input: Taken together, we show that the galectin-9/Tim-3 cell signaling pathway is involved in inflammation induced by stroke, and IPostC may reduce infarction by attenuating this novel pathway as well as the inflammatory factors iNOS and nitrotyrosine, but not COX-2.

inflammation


Input: The results of this study therefore indicate an imbalance in the levels of Th1 and Th2 cytokines at the site of inflammation in RA, and draw attention to the possibility of treatment of progressive or intractable RA with IL-4 and/or IL-10.

inflammation


Input: Experiments were performed using retinas from a murine model of oxygen-induced ischemic retinopathy (OIR) that was treated with and without the LOX pathway inhibitor, baicalein, or lacking 12-LOX.

LOX

retinopathy


Input: Combined GH and IGF-I stimulated body weight gain and in naso-anal length to the same extent as IGF-I alone, whereas GH alone was less potent.

IGF-I

body weight gain


Input: The mechanisms of progression in biliary tract cancer (BTC) with inflammation, including epithelial-mesenchymal transition (EMT), are not well understood.

BTC

inflammation


Input: These observations raise the possibility that a regulatory program controlled in inhibitory interneurons by the NPAS1 and NPAS3 transcription factors may be either substantively or tangentially relevant to psychosis.

psychosis

psychosis


Input: In contrast, allergen sensitization with high-dose LPS (10 microg) induced asthma phenotypes, i. e., airway hyperresponsiveness and noneosinophilic inflammation that were not developed in IFN-gamma-deficient mice, but unaffected in the absence of IL-4.

inflammation


Input: In conclusion, the spectrum of MLL translocation partners in adult T-ALL much more resembles that of AML than that of BCP ALL and thus the mechanisms by which MLL contributes to leukemogenesis in adult T-ALL appear to differ from those in BCP ALL.

BCP

translocation


Input: This lack of positive transcriptional regulation by the hRex1 protein may be responsible for the lack of Rex1 expression in PC-3 prostate cancer cells.

prostate cancer


Input: Therapeutic targeting of Id2 reduces growth of human colorectal carcinoma in the murine liver.

colorectal carcinoma


Input: Only dipyrone inhibited IL-8, PFPF or PGF2alpha fever.

fever

fever


Input: Using this cDNA MKP-1 and a non-viral, in vivo nanoparticle transfection approach, we found that spinal cord overexpression of MKP-1 prevented development of peripheral nerve-injury-induced tactile hypersensitivity and reduced pro-inflammatory cytokines and chemokines and the phosphorylated form of p38.

hypersensitivity


Input: This study describes a new gain-of-function p. Asn252Ser variant in the human ISL1 gene, which could potentially lead to greater activation of downstream targets involved in cardiac development, dilation, and hypertrophy.

ISL1 gene

dilation


Input: The SERPINH1-656 T allele is the first example of an ancestry-informative marker associated with preterm birth in African Americans.

preterm birth


Input: Tumor genotyping using the Affymetrix Genome-Wide Human single nucleotide polymorphism (SNP) array 6. 0 Genechip identified deletions of both chromosomal regions involved in the translocation, resulting in partial deletion of ETV4, but an uninvolved EWSR1 gene.

EWSR1 gene

translocation


Input: To test whether the muscarinic and gamma-aminobutyric acid (GABA) system are interconnected in normal cognition and dementia, we examined the muscarinic regulation of GABAergic transmission in PFC of an animal model of AD.

PFC

normal cognition


Input: In contrast, mRNA of the cytoplasmic hsp70 was strongly induced at 4 h after brain injury in multiple brain regions within the injured hemisphere, and this expression was greatly enhanced by secondary hypoxia.

hypoxia


Input: C/EBP-epsilon: chromosomal mapping and mutational analysis of the gene in leukemia and preleukemia.

C/EBP-epsilon

preleukemia


Input: We found that transforming growth factor β (TGF-β) induced demethylation of the Lefty B cytosine-phosphate-guanine (CpG) island and increased Lefty expression (10-200 times) in human pancreatic cancer cells and human liver cancer cells (PLC/PRF/5 and HLF).

Lefty B

pancreatic cancer


Input: ENG transcripts were increased threefold in CF, with a twofold increase in TGF-& #946; signaling.

ENG

CF

ENG

CF


Input: Because the cyclin D1 gene was amplified in patients at an advanced stage of HCC with rapid tumor growth, it appeared to be associated with the aggressive behavior of tumors.

HCC

aggressive behavior


Input: As synapsin III protein is decreased in schizophrenic brain and because the mutant mice do not harbor obvious anatomical deficits or neurological disorders, these mutants may represent a unique neurodevelopmental model for dissecting the molecular pathways that are related to certain aspects of schizophrenia and related disorders.

synapsin III

schizophrenia and related disorders

synapsin III

schizophrenia and related disorders


Input: The c-Jun N-terminal kinases (JNKs) are stress-activated serine-threonine kinases that have recently been linked to various neurological disorders.

c-Jun

neurological disorders


Input: Mutation screening of exons and intron/exon boundaries of GRTH gene was carried out by denaturing high-performance liquid chromatography (DHPLC) in 347 infertile patients with idiopathic azoospermia and severe oligozoospermia as well as 201 fertile men.

GRTH

infertile


Input: No correlation was found between this alteration and the rest of the clinical and biological parameters studied (adenopathies, hepatomegaly, splenomegaly, lymphocyte count, staging, CD11c expression, and resistance to chemotherapy).

hepatomegaly


Input: Our goal was to investigate whether a polymorphism in the insulin-like growth factor I promoter gene (IGF-I, wild-type, 192 base pairs) and in the insulin gene (INS) variable number of tandem repeat locus influence birth weight and weight gain in infancy.

IGF-I

weight gain


Input: We conclude that Bcl-xL is required for the development and function of CD4 Treg, which ameliorate lupus following treatment with a tolerogenic peptide.

Bcl-xL

lupus


Input: Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome.

TGDS

Catel-Manzke syndrome

TGDS

Catel-Manzke syndrome


Input: Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by eczema, thrombocytopenia and increased susceptibility of infections, with mutations of the WAS gene being responsible for WAS and X-linked thrombocytopenia.

WAS gene

infections


Input: Pyk2/related adhesion focal tyrosine kinase (RAFTK) tyrosine kinase is an upstream regulator of Src family kinases in the central nervous system that is involved in alpha-synuclein phosphorylation.

alpha-synuclein

adhesion


Input: Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

neurofilament light

Charcot-Marie-Tooth disease type 2E

neurofilament light

Charcot-Marie-Tooth disease type 2E


Input: A subgroup of apparently sporadic ACC is caused by TP53 germline mutations, and family history is a strong indicator for p53 germline mutations.

sporadic


Input: Hyperthyroidism increased the basal monocyte surface GLUT3 and GLUT4; in these cells, IGF-I had a marginal but highly significant effect (P = 0. 003, with repeated measures ANOVA) on GLUT3 (11%) and GLUT4 (10%) translocation on the plasma membrane.

translocation


Input: In this study, we tested the hypothesis that the missence variation Thr136Ile in the VMAT1/SLC18A1 gene is associated with anxiety-related personality traits.

SLC18A1 gene

personality traits


Input: CCl4 at a dose of 0. 5 ml/kg of body weight was given intraperitoneally to rats to induce liver damage.

body weight


Input: Protein-disulfide isomerase (PDI) was up-regulated not only by hypoxia in glia in vitro, but also by transient forebrain ischemia in rats in vivo.

PDI

hypoxia


Input: Mutations in transmembrane activator and calcium-modulating cyclophilin ligand (TACI), are found in 8-10%, associated with autoimmunity and splenomegaly.

calcium-modulating cyclophilin ligand

autoimmunity


Input: This study was aimed at clarifying whether cannabinoid-type 1 (CB1) receptor may function as tumor-promoting or-suppressing signal in human cutaneous melanoma.

cutaneous melanoma

cutaneous melanoma


Input: The renal responsiveness was determined by the degree of changes of proteinuria at 12 months after initiation of ACE inhibitors and by the slope of reciprocal variation of the serum creatinine against follow-up duration ¿ (1/Cr2-1/Cr1)/durations ¿.

proteinuria


Input: Thus, our data demonstrate that AHR is associated with RP.

AHR

RP

AHR

RP


Input: In situ hybridization identified specific upregulation and co-expression of Gremlin, Jagged1 and Hes1 in the same tubuli of kidneys from diabetic nephropathy patients, but not controls.

diabetic nephropathy


Input: Under hypoxic conditions, induction of CTGF by TGF-beta was repressed.

CTGF

hypoxic


Input: This notion was examined in 314 adult volunteers (54% female) aged 18-45 years (M = 27. 6 years), all of whom reported at least occasional alcohol consumption, who completed online surveys assessing alexithymia (Toronto Alexithymia Scale, or TAS-20), parental alcoholism (Children of Alcoholics Screening Test, or CAST), everyday signs of frontal lobe dysfunction (Frontal Systems Behavior Scale, or FrSBe) and risky alcohol use (Alcohol Use Disorders Identification Test, or AUDIT).

CAST

alcohol use


Input: On the other hand, PCR-SSCP analysis and direct DNA sequencing have shown that a human choriocarcinoma cell line, SCH, has a mutant p53 gene at codon 249.

SCH

choriocarcinoma


Input: A significant number of patients infected with human immunodeficiency virus-1 (HIV-1) suffer cognitive impairment ranging from mild to severe HIV-associated dementia (HAD), a result of neuronal degeneration in the basal ganglia, cerebral cortex and hippocampus.

HAD

cognitive impairment


Input: Moreover, bortezomib stimulates Janus kinase (JAK) phosphorylation and activates heat-shock transcription factor-1 (HSF-1) and heat-shock protein 70 (HSP70), ultimately leading to signal transducer and activator of transcription 1 (STAT1) phosphorylation.

shock


Input: Recent studies have identified novel signalling mechanisms and revealed unexpected roles of Nrg1 isoforms in both the developing and adult nervous system.

nervous system


Input: Rigorous evaluation of the post-RFA NSE in patients who, at baseline, had BE containing early cancer high-grade intraepithelial neoplasia, showed neither persistent genetic abnormalities nor buried glandular mucosa.

NSE

intraepithelial neoplasia


Input: For PPARgamma2 Pro12Ala most traits of twin pairs sharing 2 alleles of IBS had greater correlations and statistic significance in body mass index (BMI), WHR, percent of body fat (PBF) and GLU, but there were low correlations of either insulin or HOMA-IR of twin pairs sharing 1 or 2 alleles of IBS.

PBF

body mass index


Input: The Schizophrenia Proneness (SzP) scale: an MMPI-2 measure of schizophrenia liability.

SzP

schizophrenia


Input: Our objective was to define the function of GIP in human adipose tissue in relation to obesity and insulin resistance.

GIP

insulin resistance


Input: Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.

breast cancer

breast cancer


Input: Gene silencing assay demonstrated that reduced expression of PRDX2 was associated with increased sensitivity of OS cells to chemotherapeutic drugs such as methotrexate, doxorubicin and cisplatin.

OS

OS


Input: We performed a case-control association study between sporadic AD and the common proline/arginine polymorphism at codon 72 in the pro-apoptotic gene p53, in 109 sporadic AD patients and in 111 controls.

gene p53

sporadic


Input: NOTCH4 rs367398 was not statistically significantly associated with the occurrence of treatment-resistant schizophrenia after the correction for multiple testing.

treatment-resistant schizophrenia

treatment-resistant schizophrenia


Input: We found mutations of VPS13A, VPS13B, VPS13C, VPS33A, VPS35, VPS37B, VPS41, and VPS54 in 9, 3, 12, 3, 5, 9, 2, and 2 cancers, respectively, all in cancers with high microsatellite instability.

cancers


Input: Anti-Th/To and PM-Scl, in contrast, are associated with limited skin disease, but anti-Th/To might be a marker for the development of pulmonary hypertension.

PM-Scl

pulmonary hypertension


Input: The SH-HCC in all cases showed diffuse moderate to marked fatty change, abundant balloon cells often containing Mallory-Denk bodies, and pericellular fibrosis.

HCC

fibrosis


Input: NKX2. 2 overexpression by GBM-derived glioma-initiating cells (GIC) induced oligodendroglial differentiation and suppressed self-renewal capacity.

NKX2. 2

glioma


Input: This equilibrium shift may be significant in promoting a pathological condition of RPE cells and contributing to choroidal neovascularization in age-related macular degeneration.

RPE

choroidal neovascularization


Input: Following removal of the thymic mass, skin pigmentation disappeared and plasma ACTH levels fell to normal.

ACTH

skin pigmentation


Input: It has been demonstrated that this chromosomal breakage syndrome results from mutations in the NBS1 gene that cause either a loss of full-length protein expression or expression of a variant protein.

chromosomal breakage


Input: The β-amyloid (Aβ) peptide, which plays a crucial role in the pathogenesis of Alzheimer' s disease, alters hippocampal-dependent synaptic plasticity and memory and mediates synapse loss through the CREB signaling pathway.

CREB

amyloid


Input: In surveying a number of tumor types for differences in intrinsic levels of HIF under hypoxia, we find that the reduction of the upstream pathways of HIF, AKT, and mammalian target of rapamycin (mTOR) correlates with increased toxic effects of 2-deoxy-D-glucose (2-DG) in lung cancer cell lines when treated under hypoxia.

mammalian target of rapamycin

hypoxia


Input: The non-TT genotype at GGH T16C was associated with a high risk of liver dysfunction (P = 0. 028, odds ratio = 6. 90, 95% confidence interval 1. 38-34. 5), even after adjustment for the duration of MTX treatment.

MTX

liver dysfunction


Input: There was no effect of the LEP genotypes on weight or BMI Z-scores before risperidone was started.

LEP

weight


Input: Overexpression of ErbB2 receptors and losses on chromosome 17p have been proposed as independent indicators of aggressive behaviour, while high TrkC receptor expression indicates a favourable outcome.

aggressive behaviour


Input: These techniques were successfully used to detect loss of SMARCB1 in tumor cells of the ascites in a 3-month-old patient in which tumor biopsy could not initially be made due to life threatening intraabdominal bleedings.

ascites


Input: Animals of 4 transgenic lines (HLA-DR2. Ab (0), DR4. Ab (0), DQ6. Ab (0), and DQ8. Ab (0)) developed severe toe inflammation accompanied by progressive bone resorption, hyperkeratosis, alopecia, loss of nails, and shortening and thickening of the distal phalanges.

inflammation


Input: The immunoexpression of MUC5AC and MUC6 was evaluated in 75 adults presenting Helicobacter pylori gastritis (n = 22; 11 cagA positive), duodenal ulcer (DU, n = 11), gastric ulcer (GU, n = 9), gastric carcinoma (GC, n = 20), and normal mucosa (H. pylori negative, n = 13).

duodenal ulcer


Input: PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.

left ventricular noncompaction

left ventricular noncompaction


Input: Similarly to immunohistochemical results, PAR-1 mRNA expression was significantly higher in atypical nevi and melanomas in comparison with common nevi and controls.

atypical nevi


Input: In addition to known Stat3 transcriptional targets (Twist, Snail, Tenascin-C and IL-8), we identified ENPP2 as a novel Stat3 regulated gene, which encodes autotaxin (ATX), a secreted lysophospholipase which mediates mammary tumorigenesis and cancer cell migration.

ATX

mammary tumorigenesis


Input: FISH analysis for TET2 deletion in a cohort of 362 Brazilian myeloid malignancies: correlation with karyotype abnormalities.

abnormalities


Input: RLPs (50 microg/mL) significantly increased superoxide formation in HUVECs associated with elevated gp91phox mRNA and protein expression and Rac1 translocation, accompanied by increased production of tumor necrosis factor (TNF)-alpha and interleukin-1beta, DNA fragmentation, and cell death.

TNF

translocation


Input: SUMMARY To detect the expression of pro-fibrotic molecules, such as heat shock protein 47 (Hsp47), transforming growth factor-beta 1 (TGF-β1) and connective tissue growth factor (CTGF) in liver specimens, and analyse their correlations with the progression of schistosomal hepatic fibrosis, liver biopsy was performed in 42 chronic schistosomiasis (CS) patients, 16 chronic hepatitis B (CHB) patients and five healthy individuals (HI).

CTGF

schistosomiasis


Input: We evaluated the relationship of insulin sensitivity (assessed with the quantitative insulin sensitivity check index, QUICKI) to adiponectin and pro-inflammatory markers, levels of high-sensitivity C-reactive protein (hs-CRP) and interleukin-1 receptor antagonist (IL-1 Ra).

CRP

insulin sensitivity


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

MNS

depression

MNS

depression


Input: No significant differences in the percentages of IL-3, IL-4 and IL-5 mRNA positive cells were observed between active and nonactive sarcoidosis patients and normal controls (p > 0. 05).

sarcoidosis


Input: CD82 is recognized as a wide-spectrum tumor metastasis suppressor that inhibits cancer cell motility and invasiveness.

tumor metastasis

tumor metastasis


Input: Short telomeres correlated with ER-negative tumors in sporadic cases but not in familial cases, whereas a high level of apoptosis was associated with shorter telomeres in hereditary BRCA1 and BRCA2 tumors.

sporadic


Input: Improving the resistance of astrocytes to ischemic stress by targeting either the cytosolic or mitochondrial compartment was thus associated with preservation of CA1 neurons following forebrain ischemia.

ischemia


Input: However, clinico-pathological parameters, including stage, differentiation, amount of ascites, and serum levels of CA125, did not show any correlation to mRNA expression of any given-type ST. Our results suggest that altered mRNA expressions of alpha2, 3-sialyltransferase ST3Gal I, ST3Gal III, ST3Gal IV, ST3Gal VI, andalpha2, 6-sialyltransferase ST6Gal I are of importance in malignant ovarian cancers.

ST3Gal I

ascites


Input: We used denaturing high performance liquid chromatography (D-HPLC) and direct sequencing to screen 216 patients (134 with autosomal recessive or sporadic retinitis pigmentosa (RP) and 82 with other retinal dystrophies) for RBP1 and RBP3, and 331 patients for RGR (79 cases with autosomal dominant RP and 36 RP cases with undetermined inheritance were added to the 216 previous patients).

sporadic


Input: Several new recurrent genetic molecular abnormalities have recently been identified, including TET2, ASXL1, IDH1, IDH2, DNMT3A, and PHF6.

abnormalities


Input: Eotaxin and monocyte chemotactic protein (MCP)-4 are 2 eosinophil-associated chemokines shown to be upregulated at sites of allergic inflammation.

MCP

inflammation


Input: These analyses revealed that 5 genes, i. e., AMOG (ATP1B2, 17p13. 1), APOD (3q26. 2-qter), DMXL1 (5q23. 1) DRR1 (TU3A, 3p14. 2) and PSD3 (KIAA09428/HCA67/EFA6R, 8p22), were expressed at significantly lower levels in secondary glioblastomas as compared to diffuse astrocytomas of WHO grade II.

secondary


Input: No significant association between sporadic ALS and the six previously reported associated SNPs in FGGY was observed: rs6700125 (p = 0. 56), rs6690993 (p = 0. 30), rs10493256 (p = 0. 68), rs6587852 (p = 0. 64), rs1470407 (p = 0. 28) and rs333662 (p = 0. 44).

FGGY

sporadic


Input: Several studies have been suggesting annexin A1 protein as an active player in tumorigenesis of many organs.

annexin A1

tumorigenesis


Input: Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.

arginine vasopressin

neurohypophyseal diabetes insipidus

arginine vasopressin

neurohypophyseal diabetes insipidus


Input: To elucidate the functional state of T cells in guttate psoriasis, we analysed mRNA expression levels of T-bet and GATA-3 for Th1 and Th2 differentiation, respectively together with Th1 (IFN-γ) and Th2 (IL-4) cytokine mRNA expression.

guttate psoriasis


Input: Inhibition of SHH signaling by cyclopamine induced apoptosis and blocked proliferation in all major types of neuroblastoma cells, and abrogated the tumorigenicity of neuroblastoma cells.

SHH

neuroblastoma


Input: During attacks a vigorous acute-phase response was detected, including elevated erythrocyte sedimentation rate, C-reactive protein, serum amyloid A and leukocytosis.

C-reactive protein

elevated erythrocyte sedimentation rate


Input: For detection of chlamydial infection, HC2-RCS had a sensitivity and a specificity similar to those of PCR (P > 0. 5) and an improved sensitivity compared to that of culture (P = 0. 007).

RCS

chlamydial infection


Input: A significant OR for interaction between GCKR rs1260326 T/T and current smoking (OR = 1. 79, p = 0. 041) was also observed.

GCKR

smoking


Input: Nine of 10 tumor samples showed LMP7 gene downregulation, and four of 10 presented TAP2 dysregulation.

tumor


Input: Using a mouse model of MDA-MB-231 human breast cancer cell metastasis to bone, here we show that fish oil diet enriched in DHA (docosahexaenoic acid) and EPA (eicosapentaenoic acid) prevents the formation of osteolytic lesions in bone, indicating suppression of cancer cell metastasis to bone.

EPA

metastasis to bone


Input: We examined the association between 36 genotyped and 193 imputed SNPs within four lipid-lowering drug target genes (HMGCR, PPARA, HM74A/GPR109A and CETP) and four non-lipid drug target genes (ACE, AGTR1, P2RY12, and ATP4B) and lipid phenotypes, blood pressure, and coronary artery disease in 5635 adult participants of the Lausanne, Switzerland, CoLaus study, genotyped using the Affymetrix 500K SNP chip technology.

HMGCR

blood pressure


Input: In this study, we analyzed the composite expression of cancer-testis antigens (CTA) and melanocyte-differentiation antigens (MDA) in malignant glioma tissue and primary glioma cell lines and compared them with normal brain specimens and meningioma.

CTA

meningioma


Input: An inverse relationship between p21 and p53 was observed wherein mutant p53 proteins were detected in 4 of 15 (27%) HNPCCs versus 22 of 32 (69%) sporadic carcinomas.

sporadic


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

mammographic breast density


Input: The results demonstrate that in the human skin the activation of mitogen-activated protein kinase pathway and up-regulation of CK17 and TGK may play roles in the pathogenesis of chloracne related to dioxin exposures.

TGK

chloracne

TGK

chloracne


Input: This is the first reported case of a child with a mutation in IFT172 who presented with growth retardation in early childhood and was initially managed as a case of functional GH deficiency that responded to rhGH therapy.

growth retardation


Input: They include deficiencies of adenine or hypoxanthine-guanine phosphoribosyltransferases, adenosine deaminase, nucleoside phosphorylase, and hyperactivity of ribosephosphate pyrophosphokinase.

nucleoside phosphorylase

hyperactivity


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

FISH

nervous system


Input: A novel mutation L619F in the cardiac Na + channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating.


Input: The aim of this study was to investigate the association between Apolipoprotein E (ApoE) gene polymorphism in the development of diabetic foot ulcers in Type 2 diabetes Turkish patients.

Apolipoprotein E

diabetic foot ulcers


Input: We investigated the antitumor activity of treatment with IFN-α, with the oncolytic adenovirus SG600-IL-24, or the combination of both in HCC in vitro and in vivo.

HCC

adenovirus


Input: As a tumor suppressor, FEN1 plays an essential role in keeping genomic instability and preventing tumorigenesis.

genomic instability


Input: This FDG-PET study with SPM99 compared 46 patients with sporadic Alzheimer disease (SAD) to 40 patients with familial AD (FAD) and to 35 matched controls.

FAD

sporadic


Input: Multivariate analysis revealed that acute respiratory failure (odds ratio = 8. 9; 95% confidence interval = 2. 6-30. 9; P = 0. 001) and serotype 19A infection (odds ratio = 5. 0; 95% confidence interval = 1. 2-22. 1; P = 0. 03) were risk factors for the development of BPF.

acute respiratory failure


Input: In PBC, HCV, and submassive necrosis, the expression levels of MDR1, MRP1, and MRP3 were increased.

necrosis


Input: Overexpression of CLPTM1L and depletion of NMM-II induced aneuploidy, indicating that CLPTM1L may interfere with normal NMM-II function in regulating cytokinesis.

aneuploidy


Input: We have analyzed three regulatory IL-4 polymorphisms;-590C > T,-34C > T and 70 bp intron-3 VNTR, in 4216 individuals; including: (1) 430 ethnically matched case-control groups (173 severe malaria, 101 mild malaria and 156 asymptomatic); (2) 3452 individuals from 76 linguistically and geographically distinct endogamous populations of India, and (3) 334 individuals with different ancestry from outside India (84 Brazilian, 104 Syrian, and 146 Vietnamese).

asymptomatic


Input: The aim was to assess the contribution of FLG null-alleles to pediatric IBD susceptibility and to coexistent atopy (eczema, asthma, allergic rhinitis, or food allergy).

FLG

food allergy


Input: We studied 46 cases of extramedullary plasmacytoma by immunostaining with anti-ALK antibody and fluorescence in situ hybridization (FISH) analysis using an ALK break-apart probe and found one case to be ALK protein-positive and demonstrated the disruption of the ALK gene in this case.

FISH

extramedullary plasmacytoma


Input: Pdcd4 repression of lysyl oxidase inhibits hypoxia-induced breast cancer cell invasion.

lysyl oxidase

hypoxia


Input: We found a new PGAM-M mutation in a Japanese family with partial PGAM deficiency: a G-to-A transition at nucleotide position 209, resulting in the substitution of a highly conserved glycine at codon 97 with aspartic acid (G97D).

PGAM-M

PGAM deficiency

PGAM-M

PGAM deficiency


Input: The identification of novel mutations in COH1 in an ethnically diverse group of patients demonstrates extensive allelic heterogeneity and explains the intriguing clinical variability in Cohen syndrome.

Cohen syndrome

Cohen syndrome


Input: Hereditary xerocytosis (HX, MIM 194380) is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration.

MIM

dehydration


Input: Lupus erythematosus (LE) and dermatomyositis (DM) are interface dermatitis, histologically characterized by formation of colloid bodies and a CD4 + CD8 + lymphocyte infiltrate.

interface dermatitis


Input: We evaluated the association between this SNP in PNPLA3 and fibrosis progression and development of HCC among HCV-infected patients.

HCC

fibrosis


Input: By molecular cytogenetics and direct sequencing, we searched for USB1 deletions/duplications and point mutations in 141 bone marrow DNA samples from patients with myelodysplastic syndromes (n = 126), myelodysplastic/myeloproliferative neoplasms (n = 12) and acute myeloid leukaemia (n = 3).

acute myeloid leukaemia


Input: A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.

glycogen storage disease type Ib

glycogen storage disease type Ib


Input: These data suggest that NAAG-mediated signaling is disrupted in the AH in schizophrenia and localize the defect to the CA1 and CA3 regions.

schizophrenia


Input: We found that XRCC1 399Gln and XRCC3 241Met were deficient in the repair of gamma-ray-but not UV-light-induced DNA damage that led to the expression of chromosome aberrations; therefore the variant genotypes are defective in base excision repair.

chromosome aberrations


Input: We conducted a comprehensive analysis of the APA products in glioblastoma multiforme (GBM, one of the most lethal brain tumors) and normal brain tissues and further developed a computational pipeline, RNAelements (http://sysbio. zju. edu. cn/RNAelements/), using covariance model from known RNA binding protein (RBP) targets acquired by RNA Immunoprecipitation (RIP) analysis.

RIP

glioblastoma multiforme


Input: However, the underlying mechanism is still poorly understood, and conflicting data on the levels of overexpression of 5'-cytosine DNA methyltransferase in sporadic colon carcinoma have been published.

DNA methyltransferase

sporadic


Input: For smoking initiation, there was no significant association with the four DRD5 markers we studied; however, maximum likelihood analyses suggested the presence of a haplotype protective against smoking initiation.

smoking


Input: Glutathione-S-transferase A4-4 modulates oxidative stress in endothelium: possible role in human atherosclerosis.

Glutathione-S-transferase A4-4

atherosclerosis

Glutathione-S-transferase A4-4

atherosclerosis


Input: Decreased lung fibroblast growth factor 18 and elastin in human congenital diaphragmatic hernia and animal models.

fibroblast growth factor 18

diaphragmatic hernia

fibroblast growth factor 18

diaphragmatic hernia


Input: In contrast to findings in prostate and testicular cancer and similar to breast cancer, p44 shows strong cytoplasmic localization in morphologically normal ovarian surface and fallopian tube epithelia, while nuclear p44 is observed in invasive ovarian carcinoma.

testicular cancer


Input: Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.

adolescent idiopathic scoliosis

adolescent idiopathic scoliosis


Input: Congenital adrenal hyperplasia arising from 21-hydroxylase deficiency is associated with mutations in the CYP21 gene on chromosome 6p.

21-hydroxylase deficiency

21-hydroxylase deficiency


Input: The protein expression of eight cancer-testis antigens [MAGEA, NY-ESO-1, GAGE, MAGEC1 (CT7), MAGEC2 (CT10), CT45, SAGE1, and NXF2] was evaluated by immunohistochemistry in 61 esophageal carcinomas (40 adenocarcinoma and 21 squamous cell carcinoma), 50 gastric carcinomas (34 diffuse and 16 intestinal type), and 141 colorectal carcinomas.

carcinomas


Input: Taken together, these findings indicate that sensitivity of p38 MAPK signaling pathways to immune stimulation is associated with depressive symptoms during chronic IFN-alpha treatment.

depressive symptoms

depressive symptoms


Input: NANOG phosphorylates NUMB by atypical protein kinase C zeta (aPKCζ), through the direct induction of Aurora A kinase (AURKA) and the repression of an aPKCζ inhibitor, lethal (2) giant larvae.

protein kinase C zeta

giant


Input: UBD-positive expression accompanied with p65 nuclei translocation was a significant independent predictive high risk factor for overall survival (HR 8. 76; 95% CI, 5. 35-14. 27; P = 0. 004) and disease-free survival (HR 5. 70; 95% CI, 1. 43-11. 55; P = 0. 016).

UBD

translocation


Input: Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.

keratin 5

Weber-Cockayne epidermolysis bullosa

keratin 5

Weber-Cockayne epidermolysis bullosa


Input: This paper is to study implications of apoptotic versus necrotic cascades for the development of hippocampal CA1 neuronal death in the primate brain undergoing complete global ischemia.

ischemia


Input: SUMO-1 may be useful as a novel target for therapy in colon cancer as well as a clinical indicator for tumor aggressiveness.

aggressiveness


Input: Here, we show that, in human cancer cells, RBX1 silencing causes the accumulation of DNA replication licensing proteins CDT1 and ORC1, leading to DNA double-strand breaks, DDR, G (2) arrest, and, eventually, aneuploidy.

DDR

aneuploidy


Input: The superior prefrontal, temporal and occipital networks were positively related to DCDC2 in the schizophrenia, but not the control group.

schizophrenia

schizophrenia


Input: Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: The primary tumors of MCP-1 (-/-) mice consistently developed necrosis earlier than those of WT mice and showed decreased infiltration by macrophages and reduced angiogenesis.

necrosis


Input: This study replicates the previous finding of a high rate of conversion from BD-NOS to BD-I or II among youth, and suggests conversion is related to symptoms of bipolar disorder or depression diagnoses in the family history.

NOS

depression

NOS

depression


Input: We therefore suggest that screening for intragenic deletions and duplications by qPCR or MLPA should be considered for patients with CCD phenotype in whom DNA sequencing does not reveal a causative RUNX2 mutation.

CCD

CCD


Input: AC2 and SDA were far superior to culture for the detection of C. trachomatis and N. gonorrhoeae in the rectum, with both tests detecting at least twice as many infections.

SDA

infections


Input: Dermal fibroblasts exposed to hypoxia (1% O (2)) or CoCl (2) (1-100 microM) enhanced expression of CTGF mRNA.

CTGF

hypoxia


Input: The protein and mRNA levels of VEGF-A and EphA2 in the residual tumor tissues group that received HIFU were significantly decreased until 1 week compared with the control group (P < 0. 01).

residual tumor


Input: We have examined the expression of mRNAs for epidermal growth factor (EGF), transforming growth factor-alpha (TGF-alpha), EGF receptor (EGFR), PDGF-A chain (PDGFA), PDGF-B chain (PDGFB) and PDGF receptor (PDGFR) genes in seven human colorectal carcinoma cell lines and 18 human colorectal carcinomas.

PDGFB

colorectal carcinoma


Input: RA-V inhibits breast cancer cell migration, adhesion and ECM degradation in vitro, implying that RA-V is a potential anti-metastatic agent in breast cancer, and likely acts via PI3K/AKT and NF-κB signaling pathways in both ER-positive and ER-negative breast cancer cells.

NF-κB

adhesion


Input: Primary sclerosing cholangitis (PSC) is an inflammatory disease of the biliary tree associated with an increase in the HLA alleles DR3, DR52a, DR2, Dw2, and a decrease in DR4.

inflammatory disease


Input: These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.

major depression

major depression


Input: Our results show a significant decrease in the activity of GAPDH in blood samples from patients with FAD as compared to sporadic cases and healthy controls.

FAD

sporadic


Input: PDGF-A, PDGF-Rbeta, TGFbeta3 and bone morphogenic protein-4 in desmoplastic small round cell tumors with EWS-WT1 gene fusion product and their role in stromal desmoplasia: an immunohistochemical study.

PDGF-A

desmoplastic


Input: PGC-1β overexpression leads to the attenuation of macrophage-mediated inflammation.

PGC

inflammation


Input: Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.

renal hypouricemia

renal hypouricemia


Input: In cancer cell lines, SEMA3F overexpression decreases hypoxia-induced factor 1alpha protein and vascular endothelial growth factor mRNA, and inhibits multiple signaling components.

hypoxia


Input: The genotypes of ACAT-1 AC, LIPC GA and AA, and SCARB1 TT; LDL-R A-A-and LIPC GA; and SCARB1 TT were interacted with overweight/obesity to increase systolic, diastolic blood pressure (SBP, DBP) and pulse pressure (PP) levels; respectively.

diastolic blood pressure


Input: Correcting diastolic dysfunction by Ca2 + desensitizing troponin in a transgenic mouse model of restrictive cardiomyopathy.

restrictive cardiomyopathy


Input: The purpose of this study was to investigate the pro-apoptotic effect of camptothecin (CPT) on Y79 retinoblastoma cells and the role of Forkhead box, class O (FOXO1) in CPT-induced apoptosis.

CPT

retinoblastoma


Input: Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations.

sporadic


Input: The results indicate that there exists possible interrelation between TH and TPH gene expression and epigenetic histone acetylation in CUS-induced depressive rats, which at least partly contributes to the etiology of depression.

TH

depression

TH

depression


Input: When combining the effects of HLA-DP rs3077 and rs9277535, subjects carrying " ≥ 1 " variant alleles had a 1. 55-fold increased risk of cervical cancer (95% CI = 1. 32-1. 81), compared with those carrying " 0 " variant allele.

HLA-DP

cervical cancer


Input: A number of oncogenes and tumor suppressor genes participating in tumorigenesis have been identified, one of them being nm23.

tumorigenesis


Input: Here, we report the first occurrence of compound heterozygous PINK1 mutations in a sporadic patient with a phenotype indistinguishable from idiopathic Parkinson' s disease (PD), with onset in the late seventh decade, rapid progression and good response to levodopa that waned with time.

sporadic


Input: Patients were divided into compensated hypertrophy and failure groups, based on preoperative echocardiography, catheterization, and/or MRI data.

MRI

hypertrophy


Input: The down-regulation of EPC1 by specific-shRNA with lentivirus vector was significantly decreased the survival rate and apoptosis of A549 cells, and the tumors in EPC1 shRNA transfection group had a significant lower size and weight compared with the ones with control shRNA.

weight


Input: systolic blood pressure (SBP), diastolic blood pressure (DBP) and pulse pressure (PP) were markedly higher in MS and EH compared with those in DM and control (P < 0. 01).

DBP

systolic blood pressure


Input: ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.

Menkes disease

Menkes disease


Input: The antiviral activity has been associated with the induction of a 70-kDa heat-shock protein (HSP70), via activation of the heat-shock transcription factor (HSF) in infected cells.

shock


Input: We have treated 14 patients with either metastatic melanoma or kidney cancer, using CY 350 mg/M (2) intravenously (i. v.) over 1 hour followed by a continuous infusion IL-2 9 MIU/M (2)/24 hours for 72 hours and famotidine 20 mg i. v. twice per day.

kidney cancer

kidney cancer


Input: After demonstrating that MYH14 is highly expressed in mouse cochlea, we performed a mutational screening in a large series of 300 hearing-impaired patients from Italy, Spain, and Belgium and in a German kindred linked to DFNA4.


Input: Overall, this study defines Hsp27 as a critical regulator of IL-6-dependent and IL-6-independent EMT, validating this chaperone as a therapeutic target to treat metastatic prostate cancer.

EMT

metastatic prostate cancer


Input: Enforced expression of MnSOD by adenovirus transfection in the rapid growing cell line MIA PaCa-2 increased MnSOD immunoreactivity and MnSOD activity and decreased growth rate.

MIA

adenovirus


Input: [Frequent epigenetic inactivation of XAF1 by promotor hypermethylation in human colon cancers].

colon cancers

colon cancers


Input: Apaf1-deficient mice exhibited reduced apoptosis in the brain and striking craniofacial abnormalities with hyperproliferation of neuronal cells.

craniofacial abnormalities

craniofacial abnormalities


Input: Sarcolipin (SLN) is a low-molecular-weight protein that copurifies with the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2 + ATPase (SERCA1).

weight


Input: The Asian variant of intravascular lymphoma (AIVL) is characterized by hemophagocytic syndrome, pancytopenia and hepatosplenomegaly but usually lacks any neurological abnormality and skin lesions, which are typical features of classical intravascular lymphoma (IVL).

IVL

lymphoma


Input: The constellation of features in these AD and GD cases, including postnatal growth retardation of long bones and lung involvement, is reminiscent of the null ltbp3 mice phenotype.

AD

AD


Input: We evaluated BRG1 and INI1 expression in 12 SCCOHTs and in a series of 122 tumors that could mimic SCCOHT morphologically: 9 juvenile granulosa cell tumors, 47 adult granulosa cell tumors, 33 high-grade ovarian serous carcinomas, 9 desmoplastic round cell tumors, 13 Ewing sarcomas (5 from the pelvis and 8 from soft tissues), 1 round cell sarcoma associated with CIC-DUX4 translocation from soft tissue (thigh), 1 case of high-grade endometrial stromal sarcoma of the ovary, and 9 melanomas.

endometrial stromal sarcoma


Input: We hypothesized type-2 inflammation driven by IL-4 and IL-13 is necessary for Schistosoma-induced TGF-β-dependent vascular remodeling.

inflammation


Input: Deregulation of the planar cell polarity genes CELSR3 and FZD3 in Hirschsprung disease.

Hirschsprung disease

Hirschsprung disease


Input: Our findings indicate that the combined effect of antiangiogenesis and apoptosis-induction activity makes the VEGI-251-armed oncolytic adenovirus a promising therapeutic agent for cancer.

VEGI

adenovirus


Input: In several lymphoma lines, methylation of NFATC1 promoter DNA resulted in a " window of hypomethylation, " which is flanked by Sp1-binding sites.

lymphoma


Input: The methylation levels of ID4, CCND2, and CDH13 increased significantly from normal breast tissue to CCL and to DCIS/invasive carcinoma.

invasive carcinoma


Input: Moreover, DDX3 expression correlated with hypoxia-related proteins EGFR, HER2, FOXO4, ERα and c-Met in a HIF-1α dependent fashion, and with COMMD1, FER kinase, Akt1, E-cadherin, TfR and FOXO3A independent of HIF-1α.

hypoxia


Input: We previously found plasma levels of CD40 ligand (CD40L), chemokine (C-X-C motif) ligand 5 (CXCL5), chemokine (C-C motif) ligand 5 (CCL5) and epidermal growth factor (EGF) to be low in aplastic anemia (AA) patients and to be correlated with platelet count.

anemia


Input: We investigated the prevalence of common polymorphisms that have been associated with diseases, such as atherosclerosis (ALOX5), hypertension (CYP3A5, AGT, GNB3), diabetes (CAPN10, TCF7L2, PTPN22), prostate cancer (DG8S737, rs1447295), Hirschsprung disease (RET), and age-related macular degeneration (CFH, LOC387715).

age-related macular degeneration


Input: Identification of COL3A1 and RAB2A as novel translocation partner genes of PLAG1 in lipoblastoma.

translocation


Input: In male patients, the X-linked IGSF1 deficiency syndrome is characterized by CeH, hypoprolactinemia, delayed puberty, macro-orchidism, and increased body weight.

hypoprolactinemia

hypoprolactinemia


Input: The immune-related pathways, ribosome pathway, immune-related genes including (HLA-DRB1, HLA-DPA1, HLA-DPB1, HLA-DOA and HLA-DRA) and ribosome-related genes (RPL31, RPS3A and RPL9) might be involved in systemic vasculitis.

systemic vasculitis


Input: To elucidate the cellular role of BRCA2 in sporadic breast tumors, we studied the cellular localization and the expression of BRCA2 in carcinomas presenting or not allelic loss of BRCA2.

sporadic


Input: Mosaic IDH1 mutations are described as the cause of metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate (MC-HGA), and mutations in IDH2 as the cause of D-2-hydroxyglutaric aciduria (D-2HGA) type II.

chondromatosis


Input: The study was sought to delineate the activity of GGH and expression FPGS in tissues involved in folate homeostasis during alcoholism and the epigenetic regulation of these enzymes and transporters regulating intracellular folate levels.

GGH

alcoholism

GGH

alcoholism


Input: In the present work 156 feline mammary lesions consisting of feline mammary carcinomas (FMCs), benign neoplasms, and hyperplastic/dysplastic tissues were evaluated histologically and by immunohistochemistry for expression of basal and luminal cytokeratins (CK), vimentin, alpha-smooth muscle actin, calponin, estrogen receptor (ER) alpha (a), and progesterone receptor (PR).

smooth muscle actin

benign neoplasms


Input: After excluding 149 persons with glaucoma, male sex, higher IOP, lower diastolic blood pressure, lower body mass index, and diabetes mellitus were significant predictors of greater CDR.

CDR

diastolic blood pressure


Input: However, BRCA2-associated HBCs are without distinctive clinicopathologic features compared with sporadic breast carcinomas.

sporadic


Input: ], exit site infections [IRR 5. 59 (95% CI: 3. 50-8. 92)], and peritonitis [IRR 2. 19 (95% CI: 1. 39-3. 45)], as well as increased antibiotic use [IRR 3. 43 (95% CI: 2. 50-4. 72)], including vancomycin [IRR 2. 15 (95%: 2. 13-2. 16)].

IRR

peritonitis


Input: Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome).

MHC class II transactivator

bare lymphocyte syndrome

MHC class II transactivator

bare lymphocyte syndrome


Input: Thus, the findings of our study suggest that there are no significant associations between GSTM1 and GSTP1 polymorphisms and sperm parameters at conventional or at molecular levels including OS status, sperm chromatin integrity or maturity in Iranian infertile men with OAT and normozoospermia.

OAT

infertile


Input: Collectively, these data suggest that there may be a mechanistic link between T cell activation, CD4 + T cell counts, and viremia and lends support for the hypothesis of altered predator-prey dynamics as a possible explanation of the stability of CD4 + T cell counts in the presence of sustained multi-drug resistant viremia.

viremia


Input: IL-4 operates through the IL-4 receptor (IL-4R, a heterodimer of IL-4Ralpha and either gammac or IL-13Ralpha1) and IL-13 operates through IL-13R (a heterodimer of IL-4Ralpha and IL-13Ralpha1) to promote IgE synthesis and IgE-based mucosal inflammation which typify atopy.

mucosal inflammation


Input: We further observed a significant decrease of TGF-beta 1 mRNA levels in BD by RT-PCR in individual post-mortem samples.

TGF-beta 1

BD

TGF-beta 1

BD


Input: The relationship between the apolipoprotein E (apoE) and beta-fibrinogen G/A-455 polymorphisms and cerebrovascular disease (CVD) was examined in the present study.

apolipoprotein E

fibrinogen


Input: We also genotyped the DCLK1 region in additional samples of cases with SCZ, BP or ADHD and controls that had not been whole-genome typed.

BP

BP


Input: Fifteen of the 20 genes were methylated in more than one of 21 primary breast cancers in Stages I or II, and especially, those of LOC346978, HOXD11, SIM1, PCDHGB6 and FLJ25161 were methylated in more than 10 cancers.

breast cancers

breast cancers


Input: Several previously unidentified disease marker genes and drug targets, such as SBNO2 (schizophrenia), SEC24C (bipolar disorder), and SRRT (major depression), were identified based on statistical and topological analyses of the PPI network.

schizophrenia

schizophrenia


Input: 1x10 (6) MSC, isolated from green fluorescent protein (GFP) transgenic rats, into Rif-1 fibrosarcoma-bearing C3H/HeN mice.

MSC

fibrosarcoma


Input: Exposure of A549 lung cancer cells to CCL18 in various concentrations decreases the epithelial marker E-cadherin, whereas FSP-1, a marker of the mesenchymal phenotype increases.

lung cancer

lung cancer


Input: Injection of clonidine (1 micrograms/kg) into the cisterna magna decreased PRA from levels stimulated by prior hemorrhage into a blood reservoir to reduce mean blood pressure by 25% (21. 7 ng/ml/hr +/-6. 6 SE leads to 11. 1 ng/ml/hr +/-2. 4 SE; p less than 0. 05).

PRA

hemorrhage


Input: Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.

FLNA

Melnick-Needles Syndrome

FLNA

Melnick-Needles Syndrome


Input: We further identified KDM5B, a histone demethylase known to be involved in breast cancer tumorigenesis, as a target of miR-137.

tumorigenesis


Input: Here we present a possible mechanism that explains how these substances result in apoptosis in cancer cells by ENOX2-mediated alterations of cytosolic amounts of NAD (+) and NADH.

cancer

cancer


Input: Manganese superoxide dismutase modulates interleukin-1alpha levels in HT-1080 fibrosarcoma cells.

Manganese superoxide dismutase

fibrosarcoma


Input: Furthermore, our data suggest that 93% of patients who have been clinically diagnosed with Sotos syndrome have identifiable NSD1 abnormalities, of which 83% are intragenic mutations and 10% are 5q35 microdeletions.

abnormalities


Input: Silibinin exhibits inhibitory effects on basal and cytokine-induced expression of sPLA2s in cancer cells and therefore, may have the potential to protect against up-regulation of hGIIA and other sPLA2 isoforms during inflammation and cancer.

inflammation


Input: We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome.

Jackson-Weiss syndrome

Jackson-Weiss syndrome


Input: Treatment with the first-line chemotherapy agent for GBM, Temozolomide, paradoxically enriches for both FOXM1 (+) and MELK (+) cells in GBM cells, and addition of Siomycin A to Temozolomide treatment in mice harboring GSC-derived intracranial tumors enhances the effects of the latter.

GSC

intracranial tumors


Input: Protein expression of ABCA12, ABCC8 and ABCD2 in tumor tissues of patients with breast carcinoma was observed by immunoblotting for the first time.

breast carcinoma


Input: We identified three de novo point mutations in MPZ exon 3 in a sporadic DSS patient.

MPZ

DSS

MPZ

DSS


Input: Involvement of adropin and adropin-associated genes in metabolic abnormalities of hemodialysis patients.

adropin

abnormalities


Input: For DISC1-related sporadic psychiatric disease, we propose a mechanism whereby impaired cellular control over self-association of DISC1 leads to excessive multimerization and subsequent formation of detergent-resistant aggregates, culminating in loss of ligand binding, here exemplified by NDEL1.

sporadic


Input: The treatment of choice for profound sensorineural hearing loss (SNHL) is direct electrical stimulation of spiral ganglion cells (SGC) via a cochlear implant (CI).

SGC

profound sensorineural hearing loss


Input: Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients.

factor V Leiden

Budd-Chiari syndrome

factor V Leiden

Budd-Chiari syndrome


Input: In CAPS we found associations of common carotid artery (CCA)-IMT with 2 CX3CL1 (rs170364, rs614230) and 1 CX3CR1 (rs3732378) variants, and significant interactions of CX3CR1 rs11129820, rs3732378, and rs614230 variants with smoking and alcohol consumption in relation with CCA-IMT.

alcohol consumption


Input: Clinical and MRI findings in spinocerebellar ataxia type 5.

MRI

spinocerebellar ataxia type 5


Input: Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.

aspartoacylase

Canavan disease

aspartoacylase

Canavan disease


Input: MCP-1 has been reported to be dynamically regulated in IDC and may contribute to the deterioration of left ventricular function.

left ventricular function


Input: Not only does IL-6 decrease the insulin sensitivity of human cells such as adipocytes, but it also regulates the lineage commitment of naïve T cells into interleukin (IL)-17A-producing CD4 (+) T (Th17) cells.

insulin sensitivity


Input: Our results demonstrate that MSH6 missense mutations can effectively separate the two functions, and that increased mutation rates associated with the loss of DNA repair are sufficient to drive tumorigenesis in MMR-defective tumors.

MMR

tumorigenesis


Input: The TP53 gene has been shown to have an important role in the genesis of sporadic, presumably mainly sunlight-related, basal cell carcinoma (BCC).

TP53 gene

sporadic


Input: Weak association of the platelet-derived growth factor beta (PDGFB) and PDGF receptor beta (PDGFRB) genes with schizophrenia and schizoaffective disorder.

PDGFRB

schizophrenia

PDGFRB

schizophrenia


Input: PGE (1)-induced hypotension has an effect on IL-6 response to oral and maxillofacial surgery.

hypotension

hypotension


Input: This manuscript describes euthyroid hyperthyroxinemia secondary to elevated serum T4-binding prealbumin (TBPA) concentrations in a patient with islet cell carcinoma and reports serum TBPA measurements in other patients with islet cell carcinoma.

TBPA

euthyroid hyperthyroxinemia


Input: Resistin concentrations were significantly correlated with white blood cell count (r = 0. 326, P <. 001), hs-CRP concentrations (r = 0. 293, P =. 005), MCP-1 concentrations (r = 0. 251, P =. 005), body mass index (r = 0. 193, P =. 033), and high-density lipoprotein cholesterol (r =-0. 182, P =. 044).

body mass index


Input: The effects of 10, c12-CLA and c9, t11-CLA on VEGF-A mRNA and protein expression in MCF-7 cells, which were co-cultured with human breast stromal cells isolated from breast tissues of surgical specimens of mammoplasty and breast cancer patients, were detected by RT-PCR and Western blot analysis.

breast cancer


Input: Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.

non-small cell lung cancer

non-small cell lung cancer


Input: De novo DAZ microdeletions in an infertile male can be transmitted to a male offspring via ICSI.

DAZ

infertile


Input: K-ras mutation (GGT--> GAT, G12D) was detected in five (31%) gastric cancer cell lines and in 1 (1. 6%) gastric cancer tissue sample.

GAT

gastric cancer


Input: MRI revealed a hypoplastic anterior pituitary in the girl at 14 years and pituitary enlargement in the boy at 18 years.

MRI

enlargement


Input: Subsequently, SM treatment increased the binding activities of TNF-alpha and TNF-beta to the lung cancers, and the intrinsic TNFs-resistant cancer cells became susceptible to TNF-alpha and-beta.

TNF-alpha

resistant cancer


Input: Furthermore, RYBP expression was induced by cisplatin, and adenovirus-mediated RYBP expression inhibited HCC tumor growth and sensitized HCC to conventional chemotherapy in vivo.

HCC

adenovirus


Input: We tested this hypothesis in ex vivo hearts, human mastocytoma cells, and bone marrow-derived MCs from wild-type and H4R knockout mice.

mastocytoma


Input: IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

asphyxiating thoracic dystrophy

asphyxiating thoracic dystrophy


Input: Oncostatin M (OSM) is a member of the interleukin-6 (IL-6) cytokine family and known to be induced in the nervous system as a result of cell stress.

OSM

nervous system


Input: We studied the effects of NF-κB inhibition on IDD, using a DNA repair-deficient mouse model of accelerated aging (Ercc1 mice) previously been reported to exhibit age-related IDD.

NF-κB

aging


Input: The results imply that BPA has a detrimental effect on female health by promoting uterine tumorigenesis.

BPA

tumorigenesis


Input: The results showed that the levels of sL-selectin were significantly higher in untreated and therapy-resistant acute leukemia patients, and expression of L-selectin mRNA and cell surface L-selectinin in untreated and NR patients were significantly lower than that in CR patients and control group (P < 0. 05).

L-selectin

acute leukemia


Input: Notably, colons of human ulcerative colitis patients, as well as colorectal tumors, reveal downregulation of RNF20/RNF40 and H2Bub1 in both epithelium and stroma, supporting the clinical relevance of our tissue culture and mouse model findings.

ulcerative colitis


Input: Expression of autotaxin and lysophosphatidic acid receptors increases mammary tumorigenesis, invasion, and metastases.

autotaxin

mammary tumorigenesis


Input: In addition, IL-5 showed a significant inverse correlation with forced expiratory volume (FEV1) (P < 0. 04, n = 5), whereas IL-4 positively correlated with PC20adenosine-monophosphate (AMP) (P < 0. 02, n = 8).

forced expiratory volume


Input: Among 154 known leukaemia-related genes, several oncogenes were found to be upregulated, including LARG, TAL1 and MLL, and of several tumour suppressor genes were downregulated, including DLEU1, RUNX1, FANCD2 and DKC1.

leukaemia


Input: Apart from the frequent occurrence of contralateral BC and a positive ER-status, BRCA2-associated BC did not markedly differ from other hereditary or sporadic BC.

sporadic


Input: This report examined the TCR beta-chains expressed by purified CD4 + and CD8 + T cells from normal colonic lamina propria and from the intestinal mucosa of patients with active ulcerative colitis (UC).

ulcerative colitis


Input: When thrombin is not bound to thrombomodulin, it can convert fibrinogen to fibrin, factor V to factor Va, and factor VIII to factor VIIIa but will not convert protein C to APC.

factor VIII

fibrinogen


Input: In order to study the expression of MMP2, MMP3 and MMP9 in breast cancer brain metastasis, we used a syngeneic rat model of distant metastasis of ENU1564, a carcinogen-induced mammary adenocarcinoma cell line.

mammary adenocarcinoma


Input: The suppressive effects of nm23-1 transfection on metastatic potential are also associated with increased TSP expression; ras transfection, which results in increased tumorigenesis, is associated with decreased TSP expression.

tumorigenesis


Input: Compared with smoking referents, there was a significant over-representation of the GSTM1-null genotype among patients with squamous cell carcinoma (SQ) [odds ratio (OR) = 1. 7, 95% confidence interval (95% CI) = 1. 1-2. 7], and the NAT2-slow genotype among patients with large cell carcinoma or mixed histological diagnosis (LM) (OR = 2. 5, 95% CI = 1. 0-6. 1).

smoking


Input: Our study provides the first evaluation of the relationship between SNPs of the OPG/RANK system and sporadic PHPT.

OPG

sporadic


Input: A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex.

keratin 5

Weber-Cockayne epidermolysis bullosa

keratin 5

Weber-Cockayne epidermolysis bullosa


Input: The mRNA levels of pain-related neurotrophic factors, NGF, GDNF and IL-6, were examined in the sural nerves of 22 painful and non-painful patients with acute necrotizing vasculitic neuropathies, together with their concomitant soluble receptors (p75, GFR (alpha)-1 and IL-6R (alpha)).

GFR

painful


Input: RASSF1A was also methylated in two out of two fibrosis and in three (75%) out of four cirrhosis; the latter carries an increased risk of developing HCC.

HCC

fibrosis


Input: Autocrine production of interleukin-8 confers cisplatin and paclitaxel resistance in ovarian cancer cells.

ovarian cancer

ovarian cancer


Input: CLP resulted in circulatory failure and a significant downregulation of AT (1)-receptors.

CLP

circulatory failure


Input: We investigated a case of MEM by molecular, cytogenetic, and gene array analyses and compared results with our previously unpublished series of 51 pediatric tumors including conventional RMS, Ewing sarcoma (EWS), medulloblastoma (MED), atypical teratoid rhabdoid tumor (ATRT), and malignant peripheral nerve sheath tumor (MPNST); the latter is a sarcoma also with potential for divergent differentiation.]

MED

malignant peripheral nerve sheath tumor


Input: Myosin binding protein C: structural abnormalities in familial hypertrophic cardiomyopathy.

protein C

familial hypertrophic cardiomyopathy


Input: Mucopolysaccharidosis type II (Hunter syndrome) is an X linked lysosomal storage disorder resulting from heterogeneous mutations in the iduronate-2-sulphatase (IDS) gene.

IDS

Hunter syndrome

IDS

Hunter syndrome


Input: We hypothesized that controlled submaximal endurance training would not adversely affect ventricular repolarization in asymptomatic carriers of a KCNQ1 gene mutation of type 1 long QT syndrome (LQT1).

KCNQ1 gene

asymptomatic


Input: LIF expression and localization was measured in human ischaemic stroke autopsy specimens, in a rat model of middle cerebral artery occlusion (MCAO) and in human foetal neural cell cultures following oxygen-glucose deprivation (OGD) by Western blotting and immunohistochemistry.

LIF

middle cerebral artery occlusion


Input: A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.

RET proto-oncogene

familial medullary thyroid carcinoma

RET proto-oncogene

familial medullary thyroid carcinoma


Input: These results demonstrate long-term efficacy of AAV-mediated PEDF overexpression in counteracting retinal neovascularization in a relevant animal model, and provides evidence towards the use of this strategy to treat angiogenesis in DR and other chronic proliferative retinal disorders.

PEDF

retinal neovascularization


Input: Secondary endpoints included changes in the international cooperative ataxia rating scale (ICARS), the FA rating scale (FARS), and a survey of activities of daily living (ADL).

ADL

ataxia


Input: We conclude that, of the three AMPA genes analyzed here, only GRIA3 seems to be involved in the pathogenesis of schizophrenia, but only in females.

schizophrenia

schizophrenia


Input: Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.

glucose 6-phosphate translocase

glycogen storage disease type Ib

glucose 6-phosphate translocase

glycogen storage disease type Ib


Input: Parallel physicochemical and functional investigations of L68Q-cystatin C and wild-type cystatin C revealed that both proteins effectively inhibit the cysteine proteinase cathepsin B (equilibrium constants for dissociation, 0. 4 and 0. 5 nM, respectively) but differ considerably in their tendency to dimerize and form aggregates.

cathepsin B

dissociation


Input: This study aims to determine if a p53 codon 72 arginine-to-proline polymorphism, found to be correlated with cancer development and cancer patient survival in other tumors, is associated with sporadic meningioma initiation or progression.

sporadic


Input: Transgenic mice that were heterozygous for a porcine HSP70i gene ([+] HSP72), transgene-negative littermate controls ([-] HSP72), and normal Institute of Cancer Research strain mice (ICR) under pentobarbital sodium anesthesia were subjected to heat stress (40 degrees C) to induce heatstroke.

heat stress

heat stress


Input: The level of an acidic, probably phosphorylated, Ywhag isoform is down-regulated in the SON by dehydration, although total levels are unchanged.

SON

dehydration


Input: Finally, we will discuss how this epigenetic inactivation of HIC1 might " addict " cancer cells to altered survival and signaling pathways or to lineage-specific transcription factors during the early stages of tumorigenesis.

tumorigenesis


Input: It was observed that H2AX gene expression was negatively correlated with miR-24-2 expression and not in accordance with the gene copy number status, both in cell lines and in sporadic breast tumor tissues.

breast tumor

breast tumor


Input: We herein report the first successful in vivo transfer of STAT6 decoy ODN to reduce the late-phase reaction, thereby providing a new therapeutic strategy for AD.

AD

AD


Input: Therefore, therapeutic up-regulation of HO-1 could represent a mode for inhibition of PSC proliferation and thus may provide a novel strategy in the prevention of pancreatic fibrosis.

fibrosis

fibrosis


Input: Finally, we found that 5-aminoimidazole-4-carboxamide ribonucleoside (AICAR), an AMPK activator known to increase mitochondrial biogenesis, markedly stimulates OAT expression, thus representing a possible treatment for a subset of GA patients with hypomorphic alleles.

OAT

GA

OAT

GA


Input: Some T cell leukaemia patients have chromosomal abnormalities involving both genes, implying that LMO2 and TAL1 act synergistically to promote tumorigenesis after their inappropriate co-expression.

tumorigenesis


Input: In conclusion, simultaneous mutations in K-ras and TP53 are indicative of a worse prognosis in sporadic colorectal cancer.

sporadic


Input: Compared with non-tumour tissues of vocal cords polyps, MICA and ULBP-3 were strongly overexpressed on both the human laryngeal carcinoma cell line Hep-2 and fresh human laryngeal carcinoma tissues.

MICA

laryngeal carcinoma


Input: Transcriptional targets of IGF-I represent pathways of increased aggressiveness and possibly hormone independence in clinical breast cancers.

IGF-I

aggressiveness


Input: Since COX enzyme has been involved, with different mechanisms, in the development and progression of malignancies we decided to investigate the expression and localization of COX-1 and COX-2 in normal human oral mucosa and three different pathologies (hyperplasia, dysplasia and carcinoma) by immunohistochemistry and RT-PCR.

COX

hyperplasia


Input: N-Myc downstream-regulated gene 2 (NDRG2), a new HIF-1 target gene identified in our lab, was found to be upregulated by hypoxia and radiation in a HIF-1-dependent manner.

hypoxia


Input: Although the majority of Alzheimer' s disease (AD) cases are sporadic, about 5% of cases are inherited in an autosomal dominant pattern as familial AD (FAD) and manifest at an early age.

FAD

sporadic


Input: Contribution of CACNA1A locus has also been studied in the common forms of migraine, migraine with (MA) and without aura (MO), but the results have been contradictory.

aura


Input: The frequency of autoantibodies in the three myositis subgroups mirrored the frequency of DR4.

myositis


Input: Our studies reveal an unforeseen extranuclear function for Ezh2 in regulating adhesion dynamics, with implications for leukocyte migration, immune responses and potentially pathogenic processes.

adhesion


Input: We hypothesize that resveratrol inhibits the TRIF-dependent pathway through upregulation of SARM post-RSV infection.

TRIF

RSV infection

TRIF

RSV infection


Input: Therefore, in this study, we analyzed the risk of ESCC associated with tobacco and alcohol consumption and with polymorphisms of CYP2A6 (CYP2A6 * 2), CYP2E1 (CYP2E1 * 5B, CYP2E1 * 6), GSTP1 (Ile105Val), GSTM1 and GSTT1 null genotypes in 126 cases and 252 age-and gender-matched controls.

alcohol consumption


Input: In this review we discuss the multiple functions of p53 and how these correlate between cancer and neurodegeneration, focusing on various factors that may have a role in regulating p53 activity.

neurodegeneration


Input: Morphological studies included analysis of growth pattern, cell proliferation (Ki-67/MIB1 expression) and parameters of intra-and peri-tumoral remodelling (inflammation, fibrosis and necrosis).

fibrosis


Input: Interestingly, several genes (TESK2, TIPARP, THEMIS, ABLIM1, RFX4, STON2 and LILRA1) are associated with three personality traits with p & #8201; & lt; & #8201; 10 (-3) using single trait analysis and AD.

AD

AD


Input: The BRAF-V600E hotspot mutation was found in 40% (82/206) of the sporadic MSI-H tumours analysed but in none of the 111 tested HNPCC tumours or in the 45 cases showing abnormal MSH2 immunostaining.

sporadic


Input: STXBP1 was screened in a multicenter cohort of 52 patients with early onset epilepsy (first seizure observed before the age of 3 months), no cortical malformation on brain magnetic resonance imaging (MRI), and negative metabolic screening.

MRI

epilepsy


Input: Despite this significance, mechanisms that regulate ALCAM gene expression and ALCAM' s role in adhesion of pre-metastatic circulating tumor cells have not been defined.

ALCAM' s

adhesion


Input: Downregulation of ALOX5 expression in myocardial tissue by 19% (P < 0. 05) resulted in a 3. 8-fold reduction of infarct size in an open chest rat model of heart IR (P < 0. 05).

infarct


Input: Of the astrocytoma associated hypermethylated genes, the methylation pattern of the CDH13, cyclin a1, DBCCR1, EPO, MYOD1, and p16INK4a genes changed in no more than 5. 66% (3/53) of astrocytoma tissues compared to non-astrocytoma controls, while the RASSF1A, p73, AR, MGMT, CDH1, OCT6, MT1A, WT1, and IRF7 genes were more frequently hypermethylated in 69. 8%, 47. 2%, 41. 5%, 35. 8%, 32%, 30. 2%, 30. 2%, 30. 2% and 26. 4% of astrocytoma tissues, respectively.

cyclin a1

astrocytoma


Input: However, the first change induced by PA was the change of podocin localization from a linear pattern to a dot-like one prior to the onset of albuminuria.

podocin

albuminuria

podocin

albuminuria


Input: To determine if functional polymorphisms of folate/homocysteine pathway enzymes are associated with homocysteine concentrations and/or coronary artery calcification (CAC) scores in patients with systemic lupus erythematosus (SLE) and controls.

CAC

coronary artery calcification


Input: Furthermore, an effect of GSTO1 rs4925 on the age-at-onset (AAO) of AD was found in different studies on sporadic and familial AD cases, but with contrasting findings.

sporadic


Input: LMW-E/CDK2 deregulates acinar morphogenesis, induces tumorigenesis, and associates with the activated b-Raf-ERK1/2-mTOR pathway in breast cancer patients.

tumorigenesis


Input: Five of these genes (CDKN1A, GADD45A, PMP22, BEX2, CGREF1, CYR61), were associated with cell cycle arrest and growth regulation and had been previously identified in studies relating muscle wasting and ageing.

muscle wasting


Input: Our results strongly support previously reported association studies, implicating GRID1 in the etiology of schizophrenia.

schizophrenia

schizophrenia


Input: Both SSTR2B and SSTR4 immunoreactivities were increased within microglia following SE.

SE

SE


Input: Utility of neutrophil Fcγ receptor I (CD64) index as a biomarker for mucosal inflammation in pediatric Crohn' s disease.

mucosal inflammation


Input: High levels of Nrf2 determine chemoresistance in type II endometrial cancer.

endometrial cancer

endometrial cancer


Input: Sequence analysis of the GRXCR1 gene in hearing-impaired family members revealed splice-site mutations in two Dutch families and a missense and nonsense mutation, respectively, in two Pakistani families.

hearing-impaired

hearing-impaired


Input: In summary, our study identified RhoE as a novel prognostic biomarker and metastatic-promoting gene of gastric cancer.

RhoE

gastric cancer


Input: Using the hypoxia response element of the human EPO enhancer, we conducted electrophoretic mobility shift assays that showed accumulation and binding of HIF-1 complexes containing both ARNT1 and ARNT2 in NB cells.

hypoxia


Input: We delineate syndromic CSD as a distinct disease entity caused by SPINT2 loss-of-function mutations.

CSD

CSD


Input: The ELISA, using recombinant MDA-5 protein as the antigen, showed an analytical sensitivity of 85% and analytical specificity of 100%, in comparison with the " gold standard " immunoprecipitation assay, and was useful for identifying patients with C-ADM and/or rapidly progressive ILD.

ADM

rapidly progressive


Input: Taken together, these studies showed that ET-1-mediated MIP-1β gene expression is regulated via hypoxia-response elements, AP-1, and NF-κB cis-binding elements in its promoter and negatively regulated by microRNA-195, which targets the 3' untranslated region of MIP-1β RNA.

hypoxia


Input: The proinflammatory, prooncogenic protein cyclooxygenase (COX)-2 has been shown to be markedly induced in the Apcdelta716 polyps at an early stage of polyp development (M. Oshima et al., Cell, 87: 803-809, 1996).

COX

polyp


Input: Importantly, hypoxia regulated expression of alarmin receptors such as the receptor for advanced glycation end products (RAGE) and the purinoreceptor (P2X7R), and up-regulated inflammatory response (IR) genes such as the inducible enzymes nitric oxide synthase (NOS2), cycloxygenase (COX2), and the acute-phase protein pentraxin-3 (PTX3).

hypoxia


Input: We report the results of a long-term follow-up of one patient presenting severe bradycardia and cardiomyopathy at birth, diagnosed in the third day of life and successfully treated by ERT.

ERT

cardiomyopathy


Input: Fourteen markers were genotyped within two alcohol metabolism genes [Alcohol dehydrogenase (ADH) gene clusters (ADH1B and ADH1C) and Aldehyde dehydrogenase (ALDH2)], one microsomal ethanol oxidizing enzyme cytochrome p450 (CYP2E1) and three oxidative stress response (OSR) genes (MnSOD, GSTT1 and GSTM1) among 490 Bengali individuals (322 ALD and 168 control) from Eastern and North-Eastern India and validation was performed in a new cohort of 150 Bengali patients including 100 ALD and 50 advanced non-alcoholic steatohepatitis (NASH).

alcoholic steatohepatitis


Input: In the present study we chose to investigate 7 genes involved in the synthesis, degradation and transportation of RA, ALDH1A1, ALDH1A2, ALDH1A3, CYP26A1, CYP26B1, CYP26C1 and Transthyretin (TTR), for their roles in the development of schizophrenia.

schizophrenia

schizophrenia


Input: An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.

chronic mucocutaneous candidiasis

chronic mucocutaneous candidiasis


Input: RIP-B7. 1 mice expressing the costimulator molecule B7. 1 (CD80) on pancreatic beta-cells are a well established model to characterize preproinsulin-specific CD8 T-cell responses and experimental autoimmune diabetes (EAD).

autoimmune diabetes


Input: T-helper 1 and 17 (Th1/Th17) responses are important in inflammatory bowel disease (IBD), and research indicates that Toll-like receptor 6 (TLR6) stimulation leads to Th17 cell development within the lung.

inflammatory bowel disease


Input: Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.

down-regulated in adenoma

congenital chloride diarrhea

down-regulated in adenoma

congenital chloride diarrhea


Input: To investigate whether the reported association between SLC11A1 (also NRAMP1) polymorphisms and susceptibility to tuberculosis (TB) can be confirmed in a different population, and whether polymorphisms in SLC11A2 (also NRAMP2, DCT1, DMT1) are associated with TB.

susceptibility to tuberculosis


Input: We here report that the prevalent TRB3 missense Q84R polymorphism is significantly (P < 0. 05) associated with several insulin resistance-related abnormalities in two independent cohorts (n = 178 and n = 605) of nondiabetic individuals and with the presence of a cluster of insulin resistance-related cardiovascular risk factors in 716 type 2 diabetic patients (OR 3. 1 [95% CI 1. 2-8. 2], P = 0. 02).

abnormalities


Input: This still-experimental intervention requires a close monitoring of patients' plasma viremia and CD4 (+)-T-cell counts during the treatment interruption phase.

viremia


Input: PMP22 +/-mice developed only mild conduction slowing at an old age and a mild reduction of the M-amplitude, which indicates mild axonal dysfunction.

mild


Input: The myophosphorylase gene has been sequenced and assigned to chromosome 11, but the molecular basis of McArdle' s disease is not known.

myophosphorylase

McArdle' s disease

myophosphorylase

McArdle' s disease


Input: We identified a 3-megabase region on human chromosome 21 containing 6 candidate genes associated with herpes simplex labialis (HSL, " cold sores ").

HSL

cold sores


Input: Immunohistological and pathological studies were performed to evaluate allograft adventitial inflammation, arteriosclerosis, and expression of proliferating cell nuclear antigen (PCNA).

PCNA

inflammation


Input: To explore the time sequence in acquisition of MSI, and the role it plays during tumor progression in sporadic CRC, we compared the incidence of MSI in tissue samples from 40 Dukes'-B and 30 Dukes'-D CRC patients with liver metastases, at 4 different microsatellite loci, representing sites on the APC, DCC and p53 genes respectively as well as the D2S123 site.

p53 genes

sporadic


Input: Saccade latency discriminated PMGC from NGC, whereas saccade disinhibition discriminated PMGC from HD patients.

NGC

disinhibition


Input: Genomic DNA from 106 normotensive individuals (117. 4 ± 13. 1, 75. 2 ± 10. 5; systolic blood pressure (SBP) and diastolic blood pressure (DBP) levels, respectively) and 101 hypertensive subjects (152. 3 ± 18. 0, 92. 5 ± 11. 6; SBP and DBP levels, respectively) were studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing methods for these polymorphisms.

DBP

systolic blood pressure


Input: To correlate the expression of matrix metalloproteinases (MMPs) with melanoma-associated spongiform scleropathy (MASS) and scleral tumor invasion in eyes with uveal melanoma.

MASS

uveal melanoma


Input: Concentrations of NT-4/5 and CGRP were correlated in infants with autism but not in Down syndrome or controls.

autism

autism


Input: After eight weeks, pravastatin significantly prevented atherosclerotic lesion and reduced levels of IL-6 in serum and lesion, and significantly decreased expressions of phosphorylated STAT3 (pSTAT3) and increased suppressor of cytokine signaling 3 (SOCS3) expressions in lesions.

atherosclerotic lesion


Input: This difference persisted after adjustment for body mass index (BMI) and after exclusion of patients with a condition known to increase SHBG levels.

SHBG

body mass index


Input: Our work shows that TFAP2B has a role in ductal, facial and limb development and suggests that Char syndrome results from derangement of neural-crest-cell derivatives.

Char syndrome

Char syndrome


Input: Promoter methylation of ITF2, but not APC, is associated with microsatellite instability in two populations of colorectal cancer patients.

microsatellite instability


Input: The WAVE3 transcript is mainly expressed in the nervous system and, like all the members of the WASP gene family, WAVE3 is a key element in actin polymerization and cytoskeleton organization.

WASP

nervous system


Input: Human CNT1 was not detected in 33% and 39% of the ovarian and uterine cervix carcinomas, respectively, whereas hENT1 and hENT2 expression was significantly retained in a high percentage of tumors (91% and 96% for hENT1, 84% and 98% for hENT2, in ovarian and cervix carcinomas, respectively).

carcinomas


Input: Combination treatment with MAb C225 and oligonucleotide HYB 190 caused regression of ACHN tumor xenografts, whereas single-agent treatment only delayed tumor growth.

ACHN

regression


Input: Early postnatal hyperkalemia, sometimes severe, may complicate antenatal BS associated with ROMK mutations.

ROMK

hyperkalemia


Input: Experiments were carried out to test the hypothesis that familial aortic aneurysms, either thoracic or abdominal, are caused by mutations in the gene for type III procollagen (COL3A1) similar to mutations in the same gene that have been shown to cause rupture of aorta and other disastrous consequences in the rare genetic disorder known as Ehlers-Danlos syndrome type IV.

Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome type IV


Input: Potentially functional V (H) genes were amplified from 6/12 of the tumour masses and all of these were derived from the V (H) 3 family, with 4/6 being derived from the most commonly used V (H) 3 family member, V3-23.

tumour


Input: Moreover, a different homozygous deletion of the CTRC locus was found in an unrelated patient with asymptomatic chronic pancreatitis.

CTRC

asymptomatic


Input: Follistatin expression was also observed in cell lines derived from human hepatocellular carcinomas.

Follistatin

hepatocellular carcinomas

Follistatin

hepatocellular carcinomas


Input: A small percentage of female patients with a DS-like phenotype might carry PCDH19 mutations.

DS

DS


Input: Our data indicate that the mutations in the signal peptide and latency-associated peptide facilitate TGF-beta1 signaling, thus causing Camurati-Engelmann disease.

latency-associated peptide

Camurati-Engelmann disease

latency-associated peptide

Camurati-Engelmann disease


Input: p16INK4A sensitizes human leukemia cells to FAS-and glucocorticoid-induced apoptosis via induction of BBC3/Puma and repression of MCL1 and BCL2.

leukemia


Input: Adie' s pupil and deafness were often present, and serum creatine kinase concentrations were often raised irrespective of which MPZ mutation was present.

MPZ

deafness


Input: These findings are consistent with the view that RHBDF1 is a critical component of a molecular switch that regulates HIF1α stability in cancer cells in hypoxia and that RHBDF1 is of potential value as a new target for cancer treatment.

hypoxia


Input: This study examined nociceptive responding to mechanical and thermal stimuli prior to and following L5-L6 spinal nerve ligation (SNL), a model of neuropathic pain, in the olfactory bulbectomized (OB) rat model of depression.

SNL

depression


Input: We have identified four novel mutations in the MEN1 gene in patients with MEN1 in Taiwan.


Input: However, patients with PWS carrying a d3 allele had significantly greater height standard deviation scores (SDS) (P = 0. 025) and higher insulin-like growth factor I (IGF-I) level (P = 0. 041), although the age at the start of GH therapy, weight, BMI, and body fat were not different.

IGF-I

weight


Input: Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.

connexin 40

atrial standstill


Input: Male TPL2KO and wild-type (WT) littermates were fed a low-fat diet or a high-fat diet to investigate the effect of TPL2 deletion on obesity, inflammation, and insulin sensitivity.

insulin sensitivity


Input: Interaction effect of serum 25-hydroxyvitamin D levels and CYP1A1, CYP1B1 polymorphisms on blood pressure in an elderly population.

blood pressure


Input: Menin mutations in MEN1 patients.

Menin

Menin


Input: The purpose of this study was to evaluate if the life styles such as drinking and smoking and the genetic variations of alcohol-metabolizing enzymes (ADH2, ALDH2, CYP2E1, and CAT) were associated with the immunological biomarkers.

CAT

drinking


Input: Thus, XRCC2 acts late in the FA-BRCA pathway as also suggested by hypersensitivity of 900677A cells to ionising radiation.

FA

FA


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.

focal segmental glomerulosclerosis


Input: Leber congenital amaurosis, caused by mutations in RPE65 and LRAT, is a severe form of inherited retinal degeneration leading to blindness.

LRAT

retinal degeneration


Input: Several studies have reported on the occurrence of JAK2 (V617F) in approximately 50% of patients with essential thrombocythemia and its presence has been associated with advanced age at diagnosis, higher hemoglobin and leukocyte levels, and increased rate of polycythemic transformation.

hemoglobin


Input: The Hodgkin and Reed/Sternberg cell-expressed epigenetic regulators KDM4C and PCGF2, as well as the phosphatase DUSP1 were partially induced in hypoxic B cells.

hypoxic


Input: The purpose of this investigation was to test the genetic association between the RANTES-28C/G and-403G/A polymorphisms and asthma/atopy in a cohort of Chinese children, with particular emphasis on those patients who had experienced life-threatening asthma attacks.

RANTES

atopy


Input: We tested the association between polymorphisms and haplotypes of the renin gene and the risk of hypertension and blood pressure levels in two Spanish populations.

renin gene

blood pressure