Input: Baseline airway inflammation of intrinsic and extrinsic asthma is characterized by eosinophilic inflammation and the Th1 cytokine, IFN-gamma.

inflammation


Input: Supplementation with the antioxidant tempol lowered oxidative stress in STZ-treated rats, led to normalization of PKC activity, and prevented GRK2 translocation.

translocation


Input: We characterized high-grade serous ovarian carcinoma (HGSC) for the association of amplified and overexpressed genes with clinical outcome using gene expression data from 499 HGSC patients in the Ovarian Tumor Tissue Analysis cohort for 11 copy number amplified genes: ATP13A4, BMP8B, CACNA1C, CCNE1, DYRK1B, GAB2, PAK4, RAD21, TPX2, ZFP36, and URI.

ovarian carcinoma


Input: Thus, data show that M1-polarized microglial cells can engulf glioma cells via a DAP12-mediated Siglec-h dependent mechanism.

glioma


Input: An overview of the patency and stroke rates following thrombolysis with streptokinase, alteplase, and anistreplase used to treat an acute myocardial infarction.

alteplase

myocardial infarction

alteplase

myocardial infarction


Input: Overexpression of CYP2A6 in human colorectal tumors.

colorectal tumors

colorectal tumors


Input: Recent studies have identified a subgroup of undifferentiated soft tissue sarcomas with primitive round to plump spindle cell morphology and a t (4; 19) (q35; q13. 1) translocation resulting in the expression of a CIC-DUX4 fusion transcript, including 2 tumors previously reported by our laboratory (Cancer Genet Cytogenet 2009; 195: 1).

translocation


Input: To study the kinetics of plasma viraemia and HIV-infected lymph-node cells in stable asymptomatic HIV infection with high CD4 + T-cell counts.

viraemia


Input: Human Serum Cholinesterase activity and polymorphism at its two gene loci, CHE1 and CHE2, were compared in maternal serum from neural tube defect pregnancies, normal pregnancies and a non-pregnant control group.

neural tube defect


Input: Essential for high molecular weight complex formation is the nervy homology region 2 (NHR2) within ETO, which serves as interacting surface for oligomerization as well as association with members of the ETO protein family.

ETO

nervy


Input: Furthermore we demonstrate the presence of the pro-apoptotic K (+) channel, Kv2. 1, in both human medulloblastoma tissue and DAOY cells.

Kv2. 1

medulloblastoma


Input: Elimination of CNP occurs mainly by neutral endopeptidase (NEP) and NPR-C. We established a rat model of unilateral ureteral obstruction (UUO) to examine the continuous change of the CNP expression and to assess the correlations of NPR-B, NPR-C, NEP with CNP in the obstructed kidneys.

CNP

ureteral obstruction


Input: BMP4 expression is high in retinal pigment epithelium (RPE) cells in late, dry AMD patients, while BMP4 expression is low in the wet form of the disease, characterized by choroidal neovascularization (CNV).

RPE

choroidal neovascularization


Input: Best' s vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.

Best' s vitelliform macular dystrophy

Best' s vitelliform macular dystrophy


Input: The status of p53 was investigated in breast tumours arising in germ-line carriers of mutant alleles of BRCA1 and BRCA2 and in a control series of sporadic breast tumours.

sporadic


Input: Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome.

FSH receptor

ovarian hyperstimulation syndrome

FSH receptor

ovarian hyperstimulation syndrome


Input: Study of DNA topoisomerase II in ataxia-telangiectasia cells.

DNA topoisomerase II

telangiectasia


Input: We determined the effect of PP2A inhibition by genetic (PPP2R1A siRNA) and pharmacologic (LB100, a small molecule entering phase I clinical trials) approaches on radiosensitization of Panc-1 and MiaPaCa-2 pancreatic cancer cells both in vitro and in vivo.

pancreatic cancer


Input: Examination of sputum provides a direct method to investigate airway inflammation non-invasively in particular Th1 (IL-2, IFN-gamma) and Th2 (IL-4, IL-10) cytokine production.

inflammation


Input: Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.

tubular aggregate myopathy

tubular aggregate myopathy


Input: The present study, therefore, sought to clarify the expression of PTHrP, parathyroid hormone (PTH) and PTH1R in ameloblastoma, using RT-PCR (N = 8), immunohistochemistry (N = 23) and ELISA (N = 11) techniques.

ameloblastoma


Input: IHC studies also showed the decreased TBP-2 immunoreactivity in patients with endometriosis compared with the control group.

TBP

endometriosis


Input: Our results suggest that common variants in JAG1, HES1, NOTCH3 and ADAM10 are not strongly associated with diabetic nephropathy in type 1 diabetes among white individuals.

diabetic nephropathy


Input: Only trace amounts of AID transcripts were detected in the normal liver; however, endogenous AID was significantly upregulated in both HCC and surrounding noncancerous liver tissues with underlying chronic hepatitis or liver cirrhosis (p < 0. 05).

HCC

chronic hepatitis


Input: Neuropeptide Y (NPY) is a 36 amino acid peptide which was shown to enhance memory retention, recall and prevent amnesia induced by either scopolamine or anisomycin.

NPY

amnesia


Input: Demographic and clinical characteristics of the cases (age at the study period, body weight, mean dose and plasma concentration of valproate acid (VPA)/clobazam (CLB) off and on STP, mean plasma concentration of norclobazam (N-CLB) off and on STP, degree of seizure reduction, and adverse effects of STP) were examined with each CYP2C19 polymorphism.

STP

body weight


Input: Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.

CFTR

CF

CFTR

CF


Input: We obtained blood samples for measurement of serum and red blood cell folate, plasma homocysteine, and MTHFR 677C > T genotype and colonic tissue biopsies for measurement of colonic tissue folate and DNA methylation (genomic-and gene-specific, estrogen receptor 1, ESR1; myoblast determination protein 1, MYOD1; insulin-like growth factor II, IGF2; tumor suppressor candidate 33, N33; adenomatous polyposis coli, APC; mut-L homolog 1, MLH1; and O (6)-methylguanine-DNA methyltransferase, MGMT) by liquid chromatography/electrospray ionization mass spectrometry and pyrosequencing, respectively.

myoblast determination protein 1

adenomatous polyposis coli


Input: Higher levels of activated CD4 (+) HLA-DR (+) and early differentiated CD4 (+) CD45RA (-) CD28 (+) cells predicted increased risk of subsequent detectable viremia in patients with undetectable HIV RNA (P <. 05).

viremia


Input: We identified a novel heterozygous Gly166Cys mutation in TIMP3 in all affected individuals and provide strong evidence for an autosomal dominant inheritance of the SFD phenotype in this family.

SFD

SFD


Input: One BRCA1 and one BRCA2 truncating mutation each was identified in the group of 32 (6%) early-onset breast cancer patients (& lt; or = 35 years).

breast cancer

breast cancer


Input: We studied the-930A/G polymorphism of the CYBA gene promoter, the apolipoprotein E (APOE) genotype and the methylene-tetrahydrofolate reductase (MTHFR) gene C677T polymorphism in 134 healthy pregnant women, 266 pregnant with non-proteinuric hypertension (NPH) and 184 patients with preeclampsia (PE).

CYBA gene

preeclampsia


Input: Both dynorphin (1-13) and Leu-enkephalin administered s. c. to normal and morphine-tolerant rats, 30 min before blood vessel cannulation and testing, lowered the morphine ED50 for bradycardia.

Leu-enkephalin

bradycardia

Leu-enkephalin

bradycardia


Input: DNA hypermethylation of RASSF1A, APC, cytoglobin, 3OST2, PRDM14, FAM19A4 and PHACTR3 was analysed in sputum samples from symptomatic lung cancer patients and controls (learning set: 73 cases, 86 controls; validation set: 159 cases, 154 controls) by quantitative methylation-specific PCR.

lung cancer


Input: Our studies suggest that: (i) p21 deficiency might provide a selective pressure for the emergence of apoptosis-resistant progeny exhibiting genomic instability, manifested as spontaneous γH2AX foci coupled with phosphorylation and nuclear accumulation of p53; and (ii) p21 might contribute to positive regulation of WIP1, resulting in dephosphorylation of γH2AX.

genomic instability


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

schizophrenia

schizophrenia


Input: In laboratory models, downstream post-transcriptional modifiers such as TWIST and SNAIL contribute to the dissociation of the intracellular component of the cadherin-catenin complex (CCC), resulting in tumor progression and invasion.

TWIST

dissociation


Input: In contrast, patients with the TTC/TTC, TTC/CGT, TTC/TGT, CGT/CGT and TGT/CGT haplotype combinations were more likely to be seizure-free (all p-values < 0. 0001 except CGT/CGT [p = 0. 0063]).

CGT

all


Input: Loss of p38δ mitogen-activated protein kinase expression promotes oesophageal squamous cell carcinoma proliferation, migration and anchorage-independent growth.

squamous cell carcinoma


Input: Our results demonstrate clearly that the CIPA mutations cause the inactivation of the NTRK1 receptor, thus exerting a loss of function effect, and provide an experimental approach to distinguish functional mutations from genetic polymorphisms.

CIPA

CIPA


Input: In this study, to investigate the anticancer therapeutic potential of this gene, a secreted isoform of VEGI (VEGI-251) was inserted into a selectively replicating adenovirus with E1B 55 kDa gene deletion (ZD55) to construct ZD55-VEGI-251.

VEGI

adenovirus


Input: In the whole cohort and in women, univariate correlations between IL-6 concentrations and the parameters under evaluation showed that IL-6 and leptin were positively correlated with age, BMI, waist, systolic blood pressure (SBP), diastolic blood pressure (DBP), fasting glucose, fasting insulin, Delta AUC insulin area, triglyceride (TG), free fatty acids (FFA) and monocyte chemoattractant protein-1 (MCP-1) and inversely correlated with HDL cholesterol (HDL-C) and adiponectin.

DBP

systolic blood pressure


Input: Administration of the lysyl oxidase inhibitor β-aminopropionitrile attenuated the effect of hypoxia, limiting perturbations to right ventricular systolic pressure, right ventricular hypertrophy, and vessel muscularization and normalizing collagen cross-linking and vessel matrix architecture.

lysyl oxidase

hypoxia


Input: In addition, seven of seven cases with balanced EGFR/HER2 polysomy and two of three cases with balanced EGFR/HER2 trisomy responded to gefitinib (75% of responders).

EGFR

trisomy


Input: By using immunohistochemistry, NPM overexpression was detected in papillary, follicular, undifferentiated thyroid cancer, and also in follicular benign adenomas, indicating it as an early event during thyroid tumorigenesis.

NPM

tumorigenesis


Input: METHOD OF STUDY The expression of CD80 and CD86 in decidual tissues and CD28 and cytotoxic T-lymphocyte antigen-4 (CTLA-4) in the decidual T cells was compared between normal early pregnancy and miscarriage by qPCR and Western blot.

miscarriage


Input: This review briefly summarizes the current information on the pRb1-cyclin D1-cdk4/6-p16 (INK4A) alterations in sporadic uterine cancer, placing emphasis on the influence on the dualistic model of endometrial carcinogenesis.

uterine cancer


Input: Here, we investigated a mechanism that may regulate the expression of Ets-1 in vascular endothelial growth factor (VEGF)-and hypoxia-induced retinal neovascularization and that may have potential to inhibit ocular neovascular diseases.

hypoxia


Input: Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.

mitochondrial seryl-tRNA synthetase

HUPRA syndrome

mitochondrial seryl-tRNA synthetase

HUPRA syndrome


Input: The aims of the study were to determine the expression and function of K2P channel subtypes in proliferative and secretory phase endometrium obtained from normo-ovulatory women and in an endometrial cancer cell line.

endometrial cancer


Input: p53 mutations occur frequently in sporadic lymphoma, and, in mice deficient for p53, lymphoma is the most common type of malignancy.

sporadic


Input: Treatment with LDL promoted activation and translocation of endogenous sphingosine kinase 1 (SK1) from the cytosol to the plasma membrane concomitant with production of sphingosine-1-phosphate (S1P).

translocation


Input: To determine if previous results can also be applied to the Taiwanese, we analyzed 5 Taiwanese probands with clinical features of HME: 1 of them is a sporadic case, and the others are familial cases.

HME

sporadic


Input: It was shown that stable transfection of Cyr61 into the AGS cell line strongly enhanced its adhesion ability.

adhesion


Input: Here we narrow the achromatopsia locus to 1. 4 cM and show that Pingelapese achromatopsia segregates with a missense mutation at a highly conserved site in CNGB3, a new gene that encodes the beta-subunit of the cone cyclic nucleotide-gated cation channel.

Pingelapese

Pingelapese


Input: The intermediate conductance calcium-activated potassium channel KCa3. 1 contributes to a variety of cell activation processes in pathologies such as inflammation, carcinogenesis, and vascular remodeling.

KCa3. 1

carcinogenesis


Input: In the present report, we describe three new cases of AML associated with FGFR1 abnormalities: AML with minimal differentiation with 45, XY,-7, t (8; 13) (p11. 2; q12), acute myelomonocytic leukemia with eosinophilia with 48, XY, t (8; 9) (p11. 2; q33), + 19, + 21, and AML with minimal differentiation with 46, XX, add (8) (p11. 2).

eosinophilia


Input: CL1-R2 reduced fibroblast growth factor 2-induced neovascularization in the rabbit cornea, in a mouse model of oxygen-induced retinopathy, and in a mouse Matrigel plug assay.

fibroblast growth factor 2

neovascularization


Input: Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas.

Hamartomatous Polyposis

Hamartomatous Polyposis


Input: To determine directly whether this function contributes to humoral autoimmune disease, we examined whether a deficiency in the FcRn heavy chain influences autoimmune arthritis in the K/BxN mouse model.

heavy chain

autoimmune arthritis


Input: In patients with anaplastic astrocytoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma, combination of germ-line GSTP1 * A/* A and GSTM1 null genotype confers a survival advantage.

astrocytoma, anaplastic


Input: In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c. 652T & #8594; G (p. Cys218Gly).

osteoporosis

osteoporosis


Input: In one patient, hypogammaglobulinaemia with a functional antibody deficiency was identified, while the other patient had a persisting CD4 + T cell lymphopenia (with normal antibody production).

hypogammaglobulinaemia


Input: These results indicate that TAZ plays a role in the migration, invasion, and tumorigenesis of breast cancer cells and thus presents a novel target for the detection and treatment of breast cancer.

TAZ

tumorigenesis


Input: Rats with DCM showed declined systolic myocardial performance associated with myocardial hypertrophy and fibrosis, which were accompanied with metabolism abnormalities, aberrant myocardial enzymes, increased AGEs (advanced glycation end products) accumulation and RAGE (receptor for AGEs) expression, elevated markers of oxidative stress (MDA, SOD, the ratio of NADP (+)/NADPH, Rac1 activity, NADPH oxidase subunits expression of gp91 (phox) and p47 (phox)), raised inflammatory factor (TNF-α and IL-1β), enhanced apoptotic cell death (ratio of bax/bcl-2, caspase-3 activity and TUNEL), diminished Akt and GSK-3β phosphorylation.

TNF-α

hypertrophy


Input: The high-temperature requirement factor A3 (HtrA3) is associated with acquisition of the invasive phenotype in oral squamous cell carcinoma cells.

squamous cell carcinoma


Input: Staining for the p53 product was positive in 80% of the FGC group and in 38% of the sporadic group (P < 0. 05).

sporadic


Input: Melanocortin-4 receptor gene (MC4R) variants are associated with obesity and binge eating disorder (BED), whereas the more prevalent proopiomelanocortin (POMC) and leptin receptor gene (LEPR) mutations are rarely associated with obesity or BED.

binge eating disorder


Input: The population-based Baltic male cohort (Estonians, Latvians, Lithuanians; n = 1052) and Estonian oligo-/azoospermic (sperm concentration < 20 × 10 (6)/mL) idiopathic infertile patients (n = 738) were genotyped for the FSHR Asn680Ser using PCR-RFLP.

FSHR

infertile


Input: The correlation between MGMT, Ezrin expression, and the malignant behavior of one normal epithelial esophageal cell line and seven esophageal cancer lines is discussed.

MGMT

esophageal


Input: Obese mouse ovaries had decreased Irs1, Foxo3a, Cyp2e1, MiR-103, and MiR-21 but increased Kitlg, Akt1, and miR-184 levels relative to lean littermates.

Obese

Obese


Input: The functional impact on calcium release of RYR1 mutations linked to central core disease or malignant hyperthermia is different: human myotubes carrying the malignant hyperthermia-linked RYR1 mutation V2168M had a shift in their sensitivity to the RYR agonist 4-chloro-m-cresol to lower concentrations, whereas human myotubes harboring C-terminal mutations linked to central core disease exhibited reduced [Ca2 +] i increase in response to 4-chloro-m-cresol, caffeine, and KCl.

malignant hyperthermia


Input: Association of TWIST1 gene polymorphisms with bone mineral density in postmenopausal women.

TWIST1 gene

bone mineral density


Input: Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation.

TRKA

congenital insensitivity to pain with anhidrosis

TRKA

congenital insensitivity to pain with anhidrosis


Input: In this case-control study of 1091 Caucasian lung cancer patients and 1240 controls, we explored the gene-environment interactions between the XRCC1 Arg399Gln polymorphism, alone or in combination with the two ERCC2 polymorphisms, and cumulative smoking exposure in the development of lung cancer.

smoking


Input: In MCF-7 tumors treated with E2, tumor incidence, mean weight of tumors, 3H-thymidine labelling index, differentiation antigen HMFGM (human milk-fat globule membrane) and ras p21, c-myc, neu oncogene products, the level was significantly increased.

weight


Input: Functional inactivation by hypermethylation of the p16 locus and p53 mutations could play a significant, complementary role in the pathogenesis of sporadic gastric cancer.

sporadic


Input: Increased migration of metastatic prostate cancer cells to fibronectin and bone sialoprotein was regulated by VEGF via VEGFR-2.

bone sialoprotein

metastatic prostate cancer


Input: We describe 27 cases of mild-to-severe α-thalassemia (α-thal) syndrome caused by interaction of Hb Adana [α59 (E8) Gly → Asp, GGC > GAC (α2)] with deletional and nondeletional α (+)-thal mutations in Indonesian patients.

GGC

mild


Input: METHODS: A systematic Medline search was conducted using several terms related to and including the terms " androgen receptor, " " CAG-repeat polymorphism, " " male hypogonadism, " " female hypogonadism, " and " neurodegenerative disease. "

androgen receptor

female hypogonadism


Input: In this study, we investigated whether the Na (+)/Ca (2 +) exchanger (NCX) inhibitor SEA0400 (2-[4-[(2, 5-difluorophenyl) methoxy] phenoxy-5-ethoxyaniline) might have a protective effect against myocardial ischemia-reperfusion injury in rats.

NCX

myocardial ischemia


Input: Superior vena cava syndrome and hypercalcaemia in a patient with a primary mediastinal B-cell lymphoma secreting parathyroid hormone-related protein.

parathyroid hormone-related protein

Superior vena cava syndrome

parathyroid hormone-related protein

Superior vena cava syndrome


Input: Pearson' s correlation analysis demonstrated that in women, serum RBP4 levels were significantly associated with fasting blood glucose (FBG), HOMA-β, and increment of first phase insulin secretion (1PH), but not associated with age, BMI, waist circumference, WHR, systolic (SBP) and diastolic blood pressure (DBP), TC, TG, HDL-c, LDL-c, 2 h blood glucose, HOMA-IR, ALT, AST, γ-GT, hepatic fat content (HFC), and insulin sensitivity index (ISI).

AST

diastolic blood pressure


Input: Recent evidence has demonstrated that metastatic melanoma cell lines have a specific loss of IFN-alpha gene expression, a defect that appears to occur at the level of transcription.

alpha gene

metastatic melanoma


Input: The role of TP53 mutations in the tumorigenesis of sporadic medulloblastoma (MB) and the value of TP53 mutation status as a prognostic marker are not yet definitely elucidated.

sporadic


Input: CCL2 may be involved in MM pathobiology by tumor growth suppression.

MM

MM


Input: Thus, our data suggest that altered SIRT1, 2 and 6 expression is state-dependent and might be associated with the pathogenesis and/or pathophysiology of mood disorders.

mood disorders

mood disorders


Input: We analyzed the incidence of KRAS, BRAF and PIK3CA mutations, microsatellite instability (MSI) status and loss of the DNA repair proteins MLH1, MSH2, MSH6 and MGMT in a series of 89 SAC, 81 matched conventional carcinomas (CC) and 13 sporadic colorectal cancer showing histological and molecular features of high-level MSI (sMSI-H).

sporadic


Input: Progress from adhesion to detachment of EC9706 cells causes DR5 relocalization, and promotes cytoplasmic translocation of DR5 to cell surfaces via a Golgi-dependent pathway.

translocation


Input: In this boy, a mutation Ile537Thr (c. 1610C > T) in the sterile alpha motive (SAM) domain of the TP73L (p63) gene was detected.

sterile


Input: Karyotyping and fluorescence in situ hybridization analysis of the female fetus revealed an unbalanced subtelomeric translocation (karyotype 46, XX, der (18) t (7; 18) (p22. 3; p11. 32) mat resulting in a partial trisomy 7p and a partial monosomy 18p. Array comparative genomic hybridization (CGH) detected a4. 44-Mb heterozygous duplication at 7p22. 3 to 7p22. 1 and a0. 178-Mb heterozygous deletion at 18p11. 32.

partial trisomy


Input: Increased citrullination of histone H3 in multiple sclerosis brain and animal models of demyelination: a role for tumor necrosis factor-induced peptidylarginine deiminase 4 translocation.

tumor necrosis factor

translocation


Input: Pathological section and magnetic resonance imaging (MRI) analyses demonstrated a positive correlation between the development of pulmonary cancer and hVEGF expression levels, which were determined by immunohistochemistry, qRT-PCR, and western blot analyses.

MRI

pulmonary cancer


Input: Therefore, combined treatment with fenretinide and TRAIL might be a promising model for the treatment of colorectal cancer.

TRAIL

colorectal cancer

TRAIL

colorectal cancer


Input: However, SRC-1, SRC-2, and SRC-3 levels were each significantly higher in SMC compared to MEC from both myometrial and fibroid samples, although for SRC-3 there was a trend for higher levels in myometrial samples that did not reach significance.

SMC

fibroid


Input: Our results characterize two genes associated with PCD-causing mutations and elucidate two distinct mechanisms critical for motile cilia function: dynein arm assembly for C21orf59 and assembly of the nexin-dynein regulatory complex for CCDC65.

PCD

PCD


Input: Deficits in KCC2 functional expression thus play central roles in the etiology of epilepsy and ischemia.

ischemia


Input: In this study we describe the role of miR-126 in bladder cancer progression, identifying miR-126 and ADAM9 as potential clinical biomarkers of disease aggressiveness.

aggressiveness


Input: CTGF mRNA expression levels in hyperplastic lungs after TL, hypoplastic lungs and CDH after nitrofen administration, and fetal controls at E21 were analyzed with real-time polymerase chain reaction (PCR).

CTGF

CDH

CTGF

CDH


Input: Metabolic syndrome was defined as the presence of three or more of the following criteria: fasting glucose levels ≥ 100 mg/dL, triglycerides ≥ 150 mg/dL, HDL-cholesterol < 40 mg/dL, obesity BMI ≥ 95th percentile, systolic blood pressure (SBP) and diastolic blood pressure (DBP) ≥ 95th percentile and insulin resistance HOMA-IR ≥ 2. 4.

DBP

systolic blood pressure


Input: The data suggest that such mutations occur rarely in gastric cancers and that only a small fraction of BID mutations may lead to the loss of its apoptotic function.

BID

gastric cancers

BID

gastric cancers


Input: There were no significant differences in HLA-G levels between patients with and without obstetric events, arterial thrombosis, venous thrombosis, or stroke.

HLA-G

venous thrombosis


Input: The logistic regression analysis showed significant effects of the TNF-alpha and IL-8 gene polymorphisms, beta (S)-globin gene haplotypes and α2-thal3. 7 kb on the occurrence of splenic sequestration events.

TNF-alpha

splenic sequestration


Input: TLR2 and TLR4 mediate differential responses to limb ischemia through MyD88-dependent and independent pathways.

ischemia


Input: The following specific outcome measurements were analyzed: 1) hearing loss phenotype, 2) laterality of EVA and hearing loss, 3) midpoint and operculum vestibular aqueduct measurements, and 4) genetic test results.

EVA

laterality


Input: To further analyze the consequences of hypoxic upregulation on stem cell proliferation and HIF1α signaling, CSC subpopulations from murine TRAMP-C1 cells (Sca-1 (+)/CD49f (+)) as well as from a human prostate cancer cell line (CD44 (+)/CD49f (+)) were isolated and characterized.

hypoxic


Input: The positive rate of IL-2, interferon (IFN)-gamma, and IL-15 expression showed no difference among the groups divided by clinical, endoscopic, and histological grade of inflammation.

inflammation


Input: Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

hyperplasia

hyperplasia


Input: Therefore, the Kv1. 3 channel represents a candidate gene for type 2 diabetes.

Kv1. 3

type 2 diabetes


Input: It has been shown previously that ADVIRC results from BEST1 mutations that cause exon skipping and lead to the production of shortened and internally deleted isoforms.

ADVIRC

ADVIRC


Input: We hypothesized that polymorphisms of the SNAP-25 gene (sites DdeI, MnlI and TaiI in the 3' UTR) are associated with antipsychotic drug response and induced weight gain.

weight gain


Input: P-cadherin is a direct PAX3-FOXO1A target involved in alveolar rhabdomyosarcoma aggressiveness.

aggressiveness


Input: Treatment with 1, 25D3 to streptozotocin-induced diabetic rats did not correct the hyperglycemia, hypoinsulinemia, glycosuria or ketonemia induced by the diabetes, although it partially reversed the over-expression of the insulin receptor gene in the liver and adipose tissue, without altering the normal expression of this gene in the kidney.

insulin receptor gene

glycosuria


Input: Our study suggests that the expression of these 2 mutants of NR2E3, acting as a dimer, is correlated with a mild form of ESCS in that full foveal function and retinal laminar structure are maintained, and certain rod responses are present.

ESCS

ESCS


Input: We therefore hypothesized that EphB4/ephrinB2 interactions may be involved in the preferential adhesion of EphB4-expressing tumor cells to ephrinB2-expressing endothelial cells.

adhesion


Input: The antibody titer against AnxA2 may be a potentially useful new diagnostic surrogate marker for asbestos-related lung cancer and malignant mesothelioma.

malignant mesothelioma

malignant mesothelioma


Input: Although pretreatment with IM enhanced increases in tissue levels of MPO, TNF, and TNF mRNA and exacerbated both motor disturbances and histological damage in the spinal cord of animals subjected to SCI, pretreatment with NS-398 had no effect on any of these findings.

TNF

motor disturbances


Input: These specific haplotypes were selected from our earlier work to include one haplotype bearing a short DQCAR allele (celiac disease and DR3, DQ2-DQCAR99) and two haplotypes bearing long DQCAR alleles (Diabetes Mellitus and DR4, DQ4-DQCAR 113 or 115 Idiopathic Nephrotic syndrome and DR7, DQ2-DQCAR 111-121).

celiac disease


Input: Here, we demonstrate that SK1 is overexpressed in 786-0 renal carcinoma cells lacking functional VHL, with concomitant high S1P levels that appear to be HIF-2α mediated.

renal carcinoma


Input: Hyperalgesia induced by both PLA (2) s was blocked by the histamine and serotonin receptor antagonists promethazine and methysergide, respectively, by the bradykinin B (2) receptor antagonist HOE 140 and by antibodies to tumor necrosis factor alfa (TNFalpha) and interleukin 1 (IL-1).

Hyperalgesia

Hyperalgesia


Input: Similar results were obtained in rat PFC slices pretreated with the beta-amyloid peptide (Abeta).

PFC

amyloid


Input: Orai1-deficient patients suffer from severe immunodeficiency, congenital myopathy, chronic pulmonary disease, anhydrotic ectodermal dysplasia and defective dental enamel calcification.

congenital myopathy


Input: However, it remains unknown how cyclin E-mediated replication stress promotes genomic instability during carcinogenesis.

cyclin E

genomic instability


Input: Expression of elastin, decorin, lumican and the extracellular matrix remodeling factor TIMP3 were reduced in facioscapulohumeral muscular dystrophy myoblasts.

decorin

facioscapulohumeral muscular dystrophy

decorin

facioscapulohumeral muscular dystrophy


Input: Unexpectedly, a subset of diffuse large B-cell lymphoma expressed PRDM1, lacked detectable plasmablastic or immunoblastic changes and displayed more aggressive behavior, with a shorter failure-free survival.

aggressive behavior


Input: We studied Prothrombin gene G20210A mutation, Factor V Leiden, deficiencies in protein S and C and antithrombin in 930 Caucasian infertile women referred to Fertility Center of the Department of Sciences for Woman and Child' s Health, University of Florence, of whom 230 with unexplained, 195 female and 283 male infertility, and in 240 women who have conceived naturally without hormonal stimulation therapy.

Factor V Leiden

male infertility


Input: The most sensitive sites where application of SP into the NTS evoked dose-dependent hypotension and bradycardia were at the level of the posterior tip of the area postrema (zero level) and at the level of the obex.

SP

bradycardia

SP

bradycardia


Input: Based in part on these data, PKC412 was administered to a patient with t (8; 13) (p11; q12) and was efficacious in treatment of progressive myeloproliferative disorder with organomegaly.

myeloproliferative disorder


Input: Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

Waardenburg Anophthalmia) syndrome

Waardenburg Anophthalmia) syndrome


Input: This study aimed to investigate the effects of TRIM28 on the phenotypic switching of human aortic smooth muscle cells (HASMCs), which is considered as a fundamental event during the development of atherosclerosis.

atherosclerosis

atherosclerosis


Input: Familial paroxysmal kinesigenic dyskinesia (PKD) is caused by PRRT2 mutations, but a distinct etiology has been suggested for sporadic PKD.

sporadic


Input: ABCA12, ABCA13, ABCC1, ABCC8 and ABCD2 present potential modifiers of progression and response to the chemotherapy of breast carcinoma.

breast carcinoma


Input: In this situation, we proposed that plectin, one of the intermediate filament associated proteins, might play some special roles in the tumorigenesis.

plectin

tumorigenesis


Input: A single in vivo study in Caenorhabditis elegans suggested that wild type human TTR could suppress the abnormalities seen when Aβ was expressed in the muscle cells of the worm.

TTR

worm


Input: The main conclusion of our study is that there is a reduced expression of regulatory T cell associated genes in BALF CD4 + T cells in sarcoidosis.

sarcoidosis


Input: As for non-neoplastic gastric epithelia, 1% (one of 91) from noncancer-bearing and 5% (four of 71) from cancer-bearing stomachs exhibited Chfr promoter hypermethylation.

Chfr

non-neoplastic


Input: Enhanced stability of Mcl1, a prosurvival Bcl2 relative, blunts stress-induced apoptosis, causes male sterility, and promotes tumorigenesis.

male sterility


Input: These results indicate altered regulation of transferrin and ceruloplasmin in autistic children who lose acquired language skills.

ceruloplasmin

autistic

ceruloplasmin

autistic


Input: Both the ICAM1 rs5491 and the CRP rs3091244 were shown to have significant association with MetS after adjustment for age, sex, smoking, and body mass index, but not after adjustment for levels of the respective serum marker.

smoking


Input: (2013) discover a molecular link between the Nek8 kinase, mutated in the renal ciliopathy nephronophthisis, and DNA damage control by cyclin A/Cdk2 and ATR-Chk1, providing new ideas for targeted therapies limiting tissue degeneration.

nephronophthisis


Input: A mechanism underlying ischemia-induced cell death is activation of the gene silencing transcription factor REST (repressor element-1 silencing transcription factor)/NRSF (neuron-restrictive silencing factor) and REST-dependent suppression of the AMPA receptor subunit GluR2 in CA1 neurons destined to die.

ischemia


Input: To clarify the association between a polymorphism-449 C > G (rs72696119) in 5'-UTR of NFKB1 with ulcerative colitis (UC).

UTR

ulcerative colitis


Input: Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.

drinking


Input: This work aimed to study correlation between homeostasis model assessment estimate of insulin resistance (HOMA-IR) with serum levels of inflammatory markers tumor necrosis factor alpha (TNF-alpha), interleukin 6 (IL-6), C-reactive protein (CRP), and free fatty acids (FFAs) in experimental model of induced type 2 diabetes in rats, with evaluation of effects of rosiglitazone and aspirin (low or high dose), alone or in combination.

CRP

insulin resistance


Input: Intramyocardial injection of HGF and MB in combination with insonation enhances neovascularization and reduces ventricular remodeling and infarct size.

HGF

ventricular remodeling


Input: Re-analysis of a microarray database of human postmortem prefrontal cortex (Brodmann' s Area 46/10) found that RNF41 messenger RNA expression levels were reduced significantly in patients with major depression and bipolar disorder compared with unaffected control subjects and confirmed by qRT-PCR.

bipolar disorder

bipolar disorder


Input: In an in vivo study using an isoproterenol-induced cardiac hypertrophy animal model, an acute infusion of ANG-(1-7) increased the plasma concentration of ANP by twofold without changes in blood pressure and heart rate.

ANG

cardiac hypertrophy


Input: The subependymoma tissue microarrays demonstrated tumor expression of p53, MDM2, HIF-1α, topoisomerase II-β, p-STAT3, and nucleolin, but not EGFRvIII, EphA2, IL-13RA2, CMV, CTLA-4, FoxP3, PD-1, PD-L1, EGFR, PDGF-α, PDGF-β, PDGFR-α, PDGFR-β, PTEN, IGFBP2, PI3K, MDM4, IDH1, mTOR, or Jak2.

subependymoma


Input: Diagnosis of Conradi-H & #252; nermann-Happle syndrome was confirmed by plasma sterol analysis showing markedly elevated levels of 8 (9)-cholestenol and 8-dehydrocholesterol and by detection of a missense mutation (c. 307G & gt; A; p. E103K) in the emopamil-binding protein gene.

emopamil-binding protein

Happle syndrome

emopamil-binding protein

Happle syndrome


Input: TRAIL-deficient mice exhibit delayed regression of retinal neovascularization.

TRAIL

retinal neovascularization


Input: ], hypoxia and oxidative stress [hypoxia inducible factor 1-α subunit (HIF1A) and β-site APP-cleaving enzyme-2 (BACE2)] and endothelial dysfunction [endoglin (ENG), fms-related tyrosine kinase-1 (FLT1) and vascular endothelial growth factor (VEGF)].

APP

hypoxia


Input: Podoplanin expression was determined immunohistochemically in 145 sporadic adult GISTs.

Podoplanin

sporadic


Input: Furthermore, the underlying mechanisms of emphysema and pulmonary hypertension due to PA occlusion are not well understood, and therefore ku70 (-/-) and Bax-deficient ku70 (-/-) mice may be useful models to study these diseases.

pulmonary hypertension


Input: FISH was used on frozen sections of 68 surgically resected lung carcinoma (20 adenocarcinoma; 37 squamous cell carcinoma; 11 large, small, and other cell carcinoma).

FISH

squamous cell carcinoma


Input: Ongoing efforts in our laboratory have identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629delG, L295P, 926-927delTG, 1130delA, 1141-1155del15, and E428X).

AHC

AHC


Input: Here, we show that neuronal insults trigger activation of REST and CoREST in a clinically relevant model of ischemic stroke and that REST binds a subset of " transcriptionally responsive " genes (gria2, grin1, chrnb2, nefh, nfκb2, trpv1, chrm4, and syt6), of which the AMPA receptor subunit GluA2 is a top hit.

nefh

ischemic stroke


Input: Mutations were also detected in two of seven sporadic Currarino syndrome patients; the remainder could be explained by undetected mosaicism for an HLXB9 mutation or by genetic heterogeneity in the sporadic patients.

Currarino syndrome

Currarino syndrome


Input: One of the many cognitive deficits reported in bipolar disorder (BD) patients is facial emotion recognition (FER), which has recently been associated with dopaminergic catabolism.

FER

bipolar disorder


Input: We recently reported that calcitonin gene-related peptide (CGRP) reversed the hypertension induced by nitric oxide inhibition in pregnant rats and that this effect appeared to be progesterone dependent.

calcitonin

hypertension

calcitonin

hypertension


Input: We investigated the role of ELF in primary biliary cirrhosis (PBC), autoimmune hepatitis C, chronic viral hepatitis and in livers from mice deficient in Smad2/Smad3.

chronic viral hepatitis


Input: Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

Fuchs corneal dystrophy

Fuchs corneal dystrophy


Input: Two typical SMA-I patients and a milder case each had 2 copies of the SMN2 gene and more restricted neuropathologic abnormalities.

SMN2 gene

abnormalities


Input: Moreover, accelerated telomere shortening may be induced by replicative stress or oxidative damage, leading to genomic instability, and inactivating polymorphisms of the gene encoding NADPH-quinone oxidoreductase (NQO1) are more frequently observed in patients with t-AML.

genomic instability


Input: The IGH translocation partner could be identified in four cHL and involved BCL2 and BCL3 in two cases each.

translocation


Input: In Patient 1 (a boy, age 1. 9 years), with delayed psychomotor development, epilepsy, deficits of body mass and height, cryptorchidism, low insulin-like growth factor (IGF-1) levels were found and magnetic resonance imaging (MRI) revealed hypoplasia of midline structures of the central nervous system (CNS).

MRI

epilepsy


Input: Furthermore, immunohistochemistry is more advantageous compared to mutator phenotyping assay in terms of simplicity, less time consuming and cost effectiveness for screening possible involvements of target MMR genes in tumorigenesis.

MMR

tumorigenesis


Input: We studied the NF1 gene in 93 unrelated patients with neurofibromatosis type1, focusing the analysis on four exons that contain the highest number of possible mutations occurring at CpG sites.

neurofibromatosis

neurofibromatosis


Input: Beclin1-induced autophagy abrogates radioresistance of lung cancer cells by suppressing osteopontin.

lung cancer

lung cancer


Input: The variants were observed only in the DNA of individuals who were either affected or who had inherited the MEN2A or FMTC allele as determined by haplotyping experiments.

FMTC

FMTC


Input: Mutations in PS1, PS2, and Aβ protein precursor are involved in the etiology of familial Alzheimer' s disease (FAD), while the cause of the sporadic form of AD (SAD) is still not known.

FAD

sporadic


Input: Despite this protection, TB granulomas are often hypoxic, and bacterial killing via NOS2 in these conditions is likely suboptimal.

hypoxic


Input: Besides genes that were already known to be highly expressed in CCSST, like S100A11 (S100 protein) or MITF (microphthalmia-associated transcription factor), this group shows an obvious portion of genes that are involved in cyclic AMP response or regulation, in pigmentation processes, or in neuronal structure and signaling.

pigmentation


Input: Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete.

HRAS

Costello syndrome

HRAS

Costello syndrome


Input: Neuronal apoE immunoreactivity was significantly increased in all hippocampal sectors (CA1, CA2, CA3/CA4, dentate fascia) and in the neocortex of the global ischemia group compared with controls (p < 0. 0001).

ischemia


Input: Here we show that LOX expression is regulated by hypoxia-inducible factor (HIF) and is associated with hypoxia in human breast and head and neck tumours.

LOX

hypoxia


Input: We have recently shown that the inflammatory transcription factor SAF-1 is, at least in part, responsible for the marked increase of VEGF levels in breast cancer.

SAF

breast cancer


Input: Southern restriction analysis revealed no evidence of amplification or rearrangement of the gene for basic FGF in schwannomas or in the astrocytoma cell line U87-MG.

astrocytoma


Input: Taken together, it is concluded that CTS may attenuate ischemia and reperfusion-induced microcirculatory disturbances by inhibition of proinflammatory cytokine production, reduction of neutrophil infiltration and possibly inhibition of adhesion molecules through inhibition of NF-kappaB-activation during ischemia and reperfusion.

NF-kappaB

adhesion


Input: We screened a group of 28 probands with familial combined hyperlipidaemia and a group of 91 population controls for two LPL gene mutations, D9N and N291S.

LPL

familial combined hyperlipidaemia

LPL

familial combined hyperlipidaemia


Input: The study population (n = 121) consisted of 95 infertile men with OAT and 26 controls with normozoospermia.

OAT

infertile


Input: With the E1a/E1b transgenic mice, tumors were found to arise near the junction between the squamous and columnar epithelia, as found in several human cancers, including cervical and esophageal carcinomas, and thus appear to be an ideal animal model for determining why the squamocolumnar junction is such a hot spot for the development of human tumors of epithelial derivation.

carcinomas


Input: Chromosomal region 5q31 harbours a number of genes associated with atopic phenotypes, for example the genes coding for interleukin (IL) 4, IL13 and the beta (2)-adrenoreceptor.

atopic


Input: LITAF protein expression was positively correlated with BMI (r = 0. 541, P < 0. 001), waist circumference (r = 0. 391, P = 0. 007), the homeostasis model assessment for insulin resistance (r = 0. 372, P = 0. 011) and fasting insulin levels (r = 0. 359, P = 0. 013).

LITAF

insulin resistance


Input: The positive rate of p16ink4a was 5. 35% in normal or inflammation cases, 56. 67% in CIN 1, 83. 78% in CIN 2-3, 100. 00% in carcinoma, respectively, with a significance between < CIN2 and ≥ CIN 2 (P < 0. 001).

inflammation


Input: To determine whether genetic polymorphisms in detoxification enzymes predispose to the development of CRC, 371 patients with sporadic CRC and 415 healthy controls were genotyped for polymorphisms in the important detoxification enzymes UDP-glucuronosyltransferase UGT1A1, UGT1A6, UGT1A7 and UGT1A8, and glutathione S-transferase GSTA1, GSTM1, GSTP1 and GSTT1.

sporadic


Input: ]) results in familial severe keratoconus combined with early-onset anterior polar cataract and endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome (MIM #614303).

MIM

keratoconus


Input: The phenotype associated with FBXO7 mutations consisted of early-onset, progressive parkinsonism and pyramidal tract signs, thereby matching clinically the pallido-pyramidal syndrome of Davison.

pallido-pyramidal syndrome

pallido-pyramidal syndrome


Input: In the present review, we discuss the close inter-relationships among deficits of lysosomal function, autophagy and Ca2 + homoeostasis as a pathogenic process in PS1-related FAD and their relevance to sporadic AD.

FAD

sporadic


Input: No evidence of significant silencing of Fanconi genes FANCF and FANCB or Nijmegen breakage syndrome gene NBS1 by DNA hyper-methylation in sporadic childhood leukaemia.

FANCF

sporadic


Input: JNK inhibition in vivo (using two JNK inhibitors with different mechanisms of action) markedly reduced mortality in murine paracetamol hepatotoxicity, with a significant reduction in hepatic necrosis and apoptosis.

JNK

hepatic necrosis


Input: Upregulation of a basolateral FXR-dependent bile acid efflux transporter OSTalpha-OSTbeta in cholestasis in humans and rodents.

OSTbeta

cholestasis

OSTbeta

cholestasis


Input: We sought to determine whether polymorphisms in the transforming growth factor (TGF)-beta3 gene are associated with risk of pregnancy-induced hypertension (PIH) in case-control mother-baby dyads.

pregnancy-induced hypertension


Input: In our cohort, no evidence of correlation between TLR-2 or TLR-4 polymorphism and eczema and food allergy incidence and/or severity was found.

food allergy


Input: T (H17) cells have been demonstrated to regulate allergic asthma in general and T-bet-deficiency-induced asthma in particular.

allergic asthma


Input: Similarly, the higher expression of PAR-2 was observed in chronic pancreatitis with severe fibrosis than with mild fibrosis.

PAR

chronic pancreatitis


Input: Twenty-two Japanese patients with glaucomatocyclitic crisis were typed for HLA-A, HLA-B, and HLA-C antigens to detect the immunogenetic factors in this disease.

HLA-B

glaucomatocyclitic crisis


Input: We show that the MLL gene is fused to the gene that codes for CBP (CREB-binding protein), the protein that binds specifically to the DNA-binding protein CREB (cAMP response element-binding protein) in this translocation.

DNA-binding protein

translocation


Input: Medial hypothalamic 5-hydroxytryptamine (5-HT) 1A receptors regulate neuroendocrine responses to stress and exploratory locomotor activity: application of recombinant adenovirus containing 5-HT1A sequences.

adenovirus


Input: Genetic p23 knockdown was found to result in decreases in steady-state PHD2 protein and activity and reduced susceptibility to MPP & lt; sup & gt; + & lt;/sup & gt; neurotoxicity.

neurotoxicity

neurotoxicity


Input: Our work provides a mechanism for the coordinate repression of let-7 miRNAs observed in a subset of human cancers, and associates activation of LIN28 and LIN28B with poor clinical prognosis.

cancers

cancers


Input: This study demonstrates for the first time that Purkinje cell loss and reactive astrocytosis of the cerebellum in FAD are more severe than in SAD, but that beta-amyloid deposition in the cerebellum in both FAD and SAD are similar.

FAD

astrocytosis


Input: In our current article, we have transiently expressed 16 previously reported missense mutations detected in the F13A1 gene of patients with mild FXIII deficiency and analyzed their respective expression phenotype.

F13A1 gene

mild


Input: Since microtubule-dependent processes are critical to the function and morphogenesis of the photoreceptors and RPE, the abundantly expressed KIFC3 was considered to be a potential candidate gene for causing human retinal degeneration.

RPE

retinal degeneration


Input: Ten ileal neuroendocrine tumours (INET) made up the control group for EWSR1-FEV translocation.

translocation


Input: miR-21 regulates triglyceride and cholesterol metabolism in non-alcoholic fatty liver disease by targeting HMGCR.

HMGCR

non-alcoholic fatty liver disease


Input: We provide the first evidence of BBS12 mutations related to severe phenotypes as previously described for patients with BBS10, while BBS1 ocular phenotype should not be considered as mild as generally reported when compared with other BBS phenotypes.

mild


Input: Less frequently, mutations in the myelin protein zero gene (MPZ/P (0)) account for demyelinating CMT1B, Dejerine-Sottas syndrome (DSS), or congenital hypomyelinating neuropathy (CHN).

CHN

congenital hypomyelinating neuropathy


Input: After 5 weeks of therapy with MZ-5-156 or JV-1-36, final volume and weight of MDA-MB-468 tumors were significantly decreased (all p values < 0. 001) and serum IGF-I levels as well as tumor IGF-I mRNA expression were reduced as compared with controls.

IGF-I

weight


Input: Only 3 of 23 (13%) possible CMTX families had connexin 32 mutations.

connexin 32

CMTX

connexin 32

CMTX


Input: We analyzed the status of SMARCB1/INI1 protein expression in 93 cases of sarcomas associated with chromosomal translocation involving EWS, comprising 52 Ewing' s sarcoma/primitive neuroectodermal tumors, 24 extraskeletal myxoid chondrosarcomas (EMCS), 14 clear cell sarcomas of soft tissue, 2 desmoplastic small round cell tumors, and 1 myxoid/round cell liposarcoma.

EWS

chromosomal translocation


Input: Here, we investigated correlations between polymorphisms (-1438G/A and 102T/C) of the 5-HT2A gene and personality traits in healthy Japanese volunteers (n = 239).

personality traits


Input: Several LAAs are expressed in CML and therefore are candidate structures for specific immunotherapies: bcr-abl (100%), G250 (24%), hTERT (53%), MPP11 (91%), NEWREN60 (94%), PRAME (62%), Proteinase3 (71%), RHAMM/CD168 (83%), and WT1 (53%), but not BAGE, MAGE-A1, SSX2, or NY-ESO-1.

PRAME

CML

PRAME

CML


Input: Tumor BRCA1, RRM1 and RRM2 mRNA expression levels and clinical response to first-line gemcitabine plus docetaxel in non-small-cell lung cancer patients.

lung cancer


Input: Here we found that GAT1 (-/-) mice showed a lower level of depression-and anxiety-like behaviors in comparison to wild-type mice.

depression

depression


Input: Our results validate the clinical specificity of the facial appearance, skeletal/hand anomalies, and supernumerary nipples in patients with GPC3 deletions.

facial appearance


Input: Fluorescence in situ hybridization was positive for both EWSR1 and NR4A3 translocation in 3 cases; rearrangement for EWSR1 or NR4A3, but not both, was seen in 2 tumors.

translocation


Input: Mutations in PRKAG2, the gene for the gamma2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiological abnormalities.

cardiac hypertrophy


Input: The tissue expression of vaspin and its serum levels decrease with worsening of diabetes and body weight loss at 50 wk.

vaspin

body weight


Input: Taken together, these findings demonstrate that partial GLT-1 loss can cause insulin/Akt signaling abnormalities that are in keeping with those observed in AD.

abnormalities


Input: Here, we employed several complementary mouse models of intestinal cancers, including the Slit2 transgenic mice, the ApcMin/+ spontaneous intestinal adenoma mouse model, and the DMH/DSS-induced colorectal carcinoma model to clarify function of Slit2/Robo1 signaling in intestinal tumorigenesis.

DMH

tumorigenesis


Input: Consistent with a role for TAZ in controlling proliferation and tumorigenesis, the downregulation of NPHP9 inhibited the TAZ-dependent proliferation of hippo-responsive normal epithelial and also breast cancer cells.

TAZ

tumorigenesis


Input: COX-2 immunohistochemistry was performed in pancreata of hamsters subjected to the carcinogen N-nitrosobis-(2-oxopropyl) amine (BOP) and in human pancreatic tumors.

pancreatic tumors

pancreatic tumors


Input: The study group consisted of 187 infertile men (86 with non-obstructive azoospermia (NOA) and 101 with oligoasthenoteratozoospermia (OAT)), whereas the control group comprised of 194 fertile men.

OAT

infertile


Input: Nrf2-mediated transcriptional induction of antioxidant response in mouse embryos exposed to ethanol in vivo: implications for the prevention of fetal alcohol spectrum disorders.

fetal alcohol spectrum disorders

fetal alcohol spectrum disorders


Input: These results suggest that B27 misfolding is associated with intestinal inflammation, but that neither B27 misfolding nor intestinal inflammation is critical to the development of B27-associated arthropathy.

arthropathy


Input: We found that truncation fusions of yeast FIP1 analogous to those in cancer cause loss of function and that siRNA knockdown of FIP1L1 in human cells increases DNA damage and chromosome breakage.

chromosome breakage


Input: We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21. 31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features.

hypotonia

hypotonia


Input: Primary pulmonary MALT lymphomas show frequent and heterogeneous cytogenetic abnormalities, including aneuploidy and translocations involving API2 and MALT1 and IGH and MALT1.

cytogenetic abnormalities


Input: Immunocytochemical detection of the homeobox B3, B4, and C6 gene products in childhood medulloblastomas/primitive neuroectodermal tumors.

C6 gene

primitive neuroectodermal tumors


Input: By downregulating Bcl-w and E2F6, miR-205 and miR-31 promote chemotherapeutic agents-induced apoptosis in prostate cancer cells.

prostate cancer


Input: Our studies identify an essential function for FAK in mediating the interaction between beta3 integrin and TbetaR-II, and thus in facilitating the oncogenic conversion of TGF-beta required for mammary tumor metastasis.

FAK

mammary tumor


Input: Given the importance of Notch signaling in thymocyte development and T-ALL disease progression, we hypothesized that the activated AHR potentiates disease initiation and progression in an in vivo model of Notch1-induced thymoma.

AHR

thymoma


Input: In addition, the HIP1-ALK-rearranged tumor is sensitive to treatment with crizotinib in vivo, implicating HIP1-ALKas an oncogenic driver of lung tumorigenesis.

tumorigenesis


Input: The aim of our study was to examine the contributions of HLA and CTLA-4 to the familial clustering of GD by analyzing them for association with familial and sporadic GD.

sporadic


Input: The increased expression of TRPS1 found by three independent methods is most probably translocation allele derived and driven by the translocated enhancer element.

translocation


Input: Necrotizing enterocolitis (NEC), the leading cause of gastrointestinal death from gastrointestinal disease in preterm infants, is characterized by exaggerated TLR4 signaling and decreased enterocyte proliferation through unknown mechanisms.

gastrointestinal disease


Input: The downregulated genes coded tight junction proteins (CLDN8), solute transporters (SLCs), and adhesion proteins.

adhesion


Input: Increased inflammation was correlated to an enhancement of TH2 and, to a greater extent, TH1 responses and to increased skin expression of nuclear factor kappaB.

inflammation


Input: ALA dehydratase porphyria (ADP) and congenital erythropoietic porphyria (CEP) are autosomal recessive porphyrias, and are typically expressed at birth or in childhood.

ADP

congenital erythropoietic porphyria


Input: Polymorphisms at 3' UTR and D543N loci had statistically significant association between the NRAMP1 variants and susceptibility to tuberculosis in the East-Asia descendants, and variant in the INT4 locus failed to show statistically significant association in the East-Asia population.

susceptibility to tuberculosis


Input: A multiple logistic regression analysis showed that age (odds ratio [OR]: 1. 07, 95% confidence interval [95% CI]: 1. 06-1. 08), body mass index (BMI) (OR: 1. 18, 95% CI: 1. 13-1. 23), alcohol consumption (OR: 1. 39, 95% CI: 1. 16-1. 66), family history of hypertension (OR: 1. 57, 95% CI: 1. 18-2. 07), and combined AGT M235T Thr/Thr and ADD1 Trp/Trp polymorphisms (OR: 1. 37, 95% CI: 1. 03-1. 82) were associated with hypertension.

alcohol consumption


Input: The mechanism of FGFR3 activation in TDII was probed by constructing various point mutations in the activation loop.

TDII

TDII


Input: For the first time, we identified the distribution of ghrelin receptor in digestive system cancers.

ghrelin receptor

digestive system cancers

ghrelin receptor

digestive system cancers


Input: A particular subset of genotypes, which included the GSTM1-null and GSTT1-null genotypes, the slow acetylator type of NAT2, a variant of the NQO1 genotype and the CYP2E1 DraI and RsaI genotypes, were either separately, or in combination, associated with increased frequencies of aneuploidy among the benzene-exposed individuals after adjustments for age, alcohol consumption and smoking.

smoking


Input: Mosaicism for HRAS c. 37G & gt; C and KRAS c. 35G & gt; A mutations was found in two individuals with Schimmelpenning syndrome.

HRAS

Schimmelpenning syndrome

HRAS

Schimmelpenning syndrome


Input: A critical role of Sonic Hedgehog signaling in maintaining the tumorigenicity of neuroblastoma cells.

Sonic Hedgehog

neuroblastoma


Input: Expression of IGF-R1, glycolysis-related proteins (GLUT-1, HK 2, PFK-1, LDHA, TKTL1), mitochondrial enzymes (SDHA, SDHB, ATP synthase) were analyzed in normal oral mucosa (n = 5), oral precursor lesions (simple hyperplasia, n = 11; squamous intraepithelial neoplasia, SIN I-III, n = 35), and OSCC specimen (n = 42) by immunohistochemistry and real-time polymerase chain reaction (qPCR) analysis in OSCC cell lines.

SDHA

intraepithelial neoplasia


Input: Metallothionein is a low-molecular-weight cysteine-rich protein that has the ability to bind and sequestrate heavy metal ions.

cysteine-rich protein

weight


Input: Our results demonstrate a strikingly increased expression of Cx43 in both the pre-metastatic and metastatic melanoma cell lines that were actively migrating compared to non-migrating cells.

metastatic melanoma


Input: Inactivation of the PI3K/AKT pathway rescued DRAM translocation to mitochondria; subsequently, mitochondrial DRAM induced apoptosis in HCC cells by mediating mitophagy.

HCC

translocation


Input: The results indicate that the TERT promoter-driven CRAD is capable of tumor-selective replication and oncolysis in vitro and in vivo, and can be utilized as an adjuvant treatment agent for cancer.

CRAD

cancer


Input: alpha-and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy.

beta-Adducin

proteinuria


Input: These results are the first to identify CACNA2D1 as a novel BrS susceptibility gene and CACNA1C, CACNB2, and CACNA2D1 as possible novel ERS susceptibility genes.

BrS

BrS


Input: Remarkably, a patient with an isolated deletion at the 3'-end of SLC6A8 had a similar severe phenotype as seen in BCAP31 deficiency but without deafness.

deafness


Input: These data are the first evidence that expression of DCC transcript can be silenced in colon adenoma cell lines and tissues.

DCC

colon adenoma


Input: Vascular endothelial growth factor (VEGF) is thought to be a major player in the stimulus of this abnormal growth of blood vessels.

VEGF

abnormal growth


Input: Western blot assay also confirmed that KLF5 was up-regulated in COPD tissues and was negatively associated with miR-145-5p expression.

COPD

COPD


Input: Kid-1 mRNA levels decline after renal injury secondary to ischemia or folic acid administration, two insults which result in epithelial cell dedifferentiation, followed by regenerative hyperplasia and differentiation.

ischemia


Input: Addition of a low concentration of caffeine post-irradiation, although inefficient to restore S-phase progression, significantly decreases Chk1 activation and abrogates DNA synthesis in XP-V cells.

caffeine


Input: Activation of the endogenous receptor in prostate cancer cells by the identified ligands evoked an intracellular Ca2 + increase.

prostate cancer


Input: While-1485 (AT) n exerts significant main effects on the afternoon cortisol level and nocturnal HPA negative feedback, 2051A > C has significant main effects on the morning cortisol level and cortisol response to ACTH challenge, as well as marginally significant main effects on the daytime HPA negative feedback and self-biting rate.

ACTH

self-biting


Input: These results suggest that overexpression of SOD1 may affect the PRAS pathway after tFCI by reducing the direct oxidative reaction to pPRAS after reperfusion injury.

reperfusion injury

reperfusion injury


Input: David Norris has proposed a four step model for the pathogenesis of LESSD (1): (1) exposure to UV light induces the release of proinflammaotry epidermal and dermal mediators such as IL-1 and TNF-alpha; (2) these mediators induce changes in epidermal and dermal cells including the induction of adhesion molecules and promotion of the translocation of normally intracellular autoantigen such as Ro/SS-A to the surface of epidermal cells; (3) autoantibody from the circulation binds to autoantigens such as Ro/SS-A that have been translocated to the surface of epidermal keratinocytes and (4) keratinocyte cytotoxicity ensues as the results of lymphoid cells that have been recruited from the circulation recognizing and responding to the Fc domains of autoantibody molecules bound to autoantigen expressed on the surface of keratinocytes (i. e.

TNF-alpha

translocation


Input: These results underscore the rapidity with which latent reservoirs are established in primary HIV-1 infection and indicate that it is unlikely that early treatment during primary infection can prevent establishment of a pool of latently infected, resting CD4 (+) T cells as long as treatment is initiated after plasma viremia becomes evident.

viremia


Input: In the PHP group, no statistical associations were found between different allelic distribution and age, creatinine, hematocrit, phosphorus, alkaline phosphatase (ALP), total calcium, serum parathyroid hormone (PTH), or gland weight.

PTH

weight


Input: The recently identified aspartate protease gene ALP56 is up-regulated in human malignant tumors, including colorectal cancers, but the relationship remain unclear between ALP56 gene expression and clinicopathological findings, as well as when genetic alterations in ALP56 occur during the colorectal adenoma-carcinoma sequence.

carcinoma


Input: We compared the frequency of antiphospholipid antibodies, protein C, protein S, and antithrombin deficiencies, factor V Leiden, prothrombin gene mutation G20210GA, and methylenetetrahydrofolate reductase C677T in 36 patients (23 men, 13 women; mean age, 64. 8 years) with colon ischemia, 18 patients with diverticulitis, and 52 healthy controls.

methylenetetrahydrofolate reductase

ischemia


Input: Thus, pancreatitis risk showed complex inheritance and was highest in individuals who have abnormalities in both the pancreatic ducts (CFTR) and acini (PSTI).

PSTI

abnormalities


Input: We report here a disease-related variant in the ABCD1 gene in a 19-year-old Tunisian boy with childhood cerebral adrenoleukodystrophy.

adrenoleukodystrophy

adrenoleukodystrophy


Input: The expression of RANTES mRNA was significantly elevated in the atopic asthmatic group as compared to the atopic nonasthmatic controls (p = 0. 013) and the nonatopic nonasthmatic controls (p = 0. 007).

RANTES

atopic


Input: In addition, we find a significant positive correlation between GCPII and mGluR3 mRNA in the CA3 of the control AH (r = 0. 66, p = 0. 008) which is not present in schizophrenia (r = 0. 096, p = 0. 76).

GCPII

schizophrenia

GCPII

schizophrenia


Input: BRM and BRG1 subunits of the SWI/SNF chromatin remodelling complex are downregulated upon progression of benign skin lesions into invasive tumours.

skin lesions


Input: The level of SRIF in the SME was lower and the plasma concentration of GH was higher in the depression-model group than in the other groups.

GH

depression

GH

depression


Input: CER1 gene variations associated with bone mineral density, bone markers, and early menopause in postmenopausal women.

CER1 gene

bone mineral density


Input: Our findings show an important role for p53 in the progression of SBOT to an invasive carcinoma, and suggest that downregulation of E-cadherin by DNMT1-mediated promoter methylation contributes to this process.

invasive carcinoma


Input: CXCL1, which was responsible for hemangioendothelioma progression by stimulating angiogenesis, was impaired by endostatin via inactivation of NF-κB in an animal model.

NF-κB

hemangioendothelioma


Input: Children with autism/ASD had significantly higher levels of many growth-related hormones: IGF-1, IGF-2, IGFBP-3 and GHBP.

GHBP

autism

GHBP

autism


Input: This study aims to report the willingness of different populations of high-risk couples to undergo preimplantation genetic diagnosis (PGD) for beta-thalassaemia as an alternative to prenatal genetic diagnosis (PND), and the willingness of infertile couples to undergo PGD for aneuploidies.

PND

infertile


Input: Activation of the aryl hydrocarbon receptor suppresses sensitization in a mouse peanut allergy model.

aryl hydrocarbon receptor

peanut allergy

aryl hydrocarbon receptor

peanut allergy


Input: Expression analyses of fibrosis, pancreatitis, or desmoplasia associated markers (α-SMA, Shh, COX-2, Muc6, Col1a1, and Ctgf) were performed by IHC and/or qRT-PCR.

pancreatitis


Input: Gel mobility-shift analysis of nuclear extracts from hypoxia-exposed cells showed an increase in AP-1 binding activity.

hypoxia


Input: In order to evaluate the role of the NF2 gene in sporadic meningiomas, we analyzed the entire coding regions of the NF2 gene in a group of 42 sporadic meningiomas: 17 meningothelial, 11 transitional, 11 fibrous, one secretory, one atypical, and one malignant subtype, using denaturing high-performance liquid chromatography (DHPLC) and sequence analysis.

NF2 gene

sporadic


Input: We now report that c-FLIP (L) transgenic (Tg) mice develop splenomegaly, lymphadenopathy, multiorgan infiltration, high titers of auto-antibodies, and proliferative glomerulonephritis with immune complex deposition in a strain-dependent manner.

FLIP

proliferative glomerulonephritis


Input: We have screened the 43 exons of the FAA gene and their flanking intronic sequences in 38 Italian FA patients, using RNA-SSCP.

FAA

FA

FAA

FA


Input: A prevailing hypothesis for the mechanism of the toxicity of fALS-SOD1 variants, or the gain of toxic function, involves dimer destabilization and dissociation as an early step in SOD1 aggregation.

dissociation


Input: We propose that sporadic intramedullary ependymomas should also be analyzed for this region of NF2 gene.

NF2 gene

sporadic


Input: The group of 103 patients showed higher median values of FVIII than 206 controls [FVIII: Ag, 115 versus 96 IU/dL, P < 0. 0001; FVIII: C, 119 versus 106 IU/dL, P = 0. 0009], and had a significantly increased odds ratio (OR) for fibrinogen-adjusted elevated FVIII levels [FVIII > 90th percentile versus values below the cut-off: FVIII: Ag, OR 4. 3, 95% confidence interval (CI) 1. 5 to 12. 1; FVIII: C, OR 5. 5, CI 2. 03 to 15. 06].

FVIII

fibrinogen


Input: Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.

cytochrome P450c17

17 alpha-hydroxylase deficiency

cytochrome P450c17

17 alpha-hydroxylase deficiency


Input: Our results support the concept that RER + and RER-colorectal cancers represent different pathways of carcinogenesis and may give a hint for clarifying the specific mechanism of DCC inactivation in RER-colorectal cancers.

RER

carcinogenesis


Input: Sixty-seven patients with GPL confirmed by gastroscopy and pathology were studied, including 39 cases of moderate gastric mucosal dysplasia, 19 cases of severe gastric mucosa dysplasia, 9 cases of incomplete colon metaplasia.

GPL

metaplasia


Input: We screened 556 infertile patients and 487 normozoospermic controls for partial AZFc deletions with a combined method based on STS +/-followed by CDY1-DAZ gene dosage and copy analysis.

DAZ

infertile


Input: As a whole, our results do not support a clear role of FAAH, CNR1 and NAPE-PLD in BD and lithium response.

BD

BD


Input: Copy number of DAZ genes in infertile men.

DAZ

infertile


Input: CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.

tubular aggregate myopathy

tubular aggregate myopathy


Input: We report the analysis of the role of one of the known DNA repair systems, nucleotide excision repair (NER), in somatic mutation.

NER

somatic mutation


Input: The contribution of PML to mutant p53 driven cancer was evaluated in a mouse model harboring a p53 mutation (p53 (wild-type/R172H)) that recapitulates a frequent p53 mutation (p53 (R175H)) in human sporadic and Li-Fraumeni cancers.

sporadic


Input: High OPG expression was found in 1 of 6 primary glioma cell cultures and in 1 of 12 established glioma cell lines, T98G.

OPG

glioma


Input: The increased insulin secretion may compensate for hepatic insulin resistance possibly mediated by elevated GIP secretion.

GIP

insulin resistance


Input: These studies indicate that IL-13 induces AD and atopic march via a TSLP dependent mechanism.

atopic


Input: The identification of new CMTX-causing mutations is a critical step for carrier detection and presymptomatic diagnosis, and should provide essential information on the structure-function relationship of Cx32 in vitro as well as in vivo.

CMTX

CMTX


Input: Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.

herpes simplex encephalitis

herpes simplex encephalitis


Input: With this system, we observed that overexpression of FAS in obese rat adipocytes was ADD1/SREBP-dependent.

obese


Input: Similarly, liver fibrosis was significantly reduced in PAR-1 (-/-) mice fed an ANIT diet.

liver fibrosis

liver fibrosis


Input: Inhibition of myosin light chain kinase reduces brain edema formation after traumatic brain injury.

myosin light chain kinase

brain edema

myosin light chain kinase

brain edema


Input: The prevalence of IgG anti-UACA antibodies in patients with uveitis is significantly higher than healthy controls, suggesting its potential role as an autoantigen.

UACA

uveitis


Input: The mutation we have identified in gene OS-9 might therefore participate in the oncogenic process by affecting the function of this potential tumor-suppressor gene.

tumor


Input: Plasma LPA level and serum ATX activity were increased in carbon tetrachloride-induced liver fibrosis correlatively with fibrosis grade, in dimethylnitrosamine-induced acute liver injury correlatively with serum alanine aminotransferase level or in 70% hepatectomy as early as 3 h after the operation.

LPA

fibrosis


Input: The combination of cytology and FISH using the three-probe set for chromosomes 3 + 7 + 8 significantly improved the sensitivity of bronchial brushing examination for lung cancer detection (P = 0. 00003), especially squamous cell carcinoma (SCC), which increased from 78. 0 to 98. 2%.

FISH

squamous cell carcinoma


Input: Decreased barrier function suggests that defects in the epithelium may represent the primary source of SAMP ileitis susceptibility.

SAMP

ileitis


Input: At both the protein and mRNA levels, MAOA and COMT are detected less often in PHEO compared with adrenal medulla, conversely to tyrosine hydroxylase, L-amino acid decarboxylase, and dopamine & #946;-hydroxylase, much more expressed in tumor tissue.

tyrosine hydroxylase

PHEO

tyrosine hydroxylase

PHEO


Input: Sequencing showed a CGT--> TGT missense mutation (R280C) in exon 7, previously reported to cause EEC in four families, and ectrodactyly alone (split hand-foot malformation) in one sporadic case and one large kindred.

TGT

sporadic


Input: These data demonstrate that SOD1 protects retinal cells against paraquat-and hyperoxia-induced oxidative damage and suggest that overexpression of SOD1 should be considered as one component of ocular gene therapy to prevent oxidative damage-induced retinal degeneration.

retinal degeneration

retinal degeneration


Input: However, vaspin mRNA decreased with worsening of diabetes and body weight loss.

vaspin

body weight


Input: We also found increased expression of HIF-1 & #945; and LDHA mRNA in MDD patients in a remissive state, whereas the mRNA expression levels of other genes in a remissive state were comparable to those in healthy control subjects.

LDHA

MDD

LDHA

MDD


Input: Using either hapten or ovarian carcinoma-specific monoclonal antibodies, we constructed chimeric receptor genes and retrovirally introduced them into CD8 + TIL.

TIL

ovarian carcinoma


Input: Twenty-four sporadic colorectal adenomas were analysed for the presence of allelic loss on the short arm of chromosome 17 as well as mutations in the K-ras and p53 genes.

p53 genes

sporadic


Input: The cellular expression of TNP1 mRNA in spermatids was quantified by in situ hybridisation on paraffin sections of testis biopsies from 21 men with obstructive azoospermia and 23 men with non-obstructive azoospermia.

obstructive azoospermia


Input: Fundus imaging demonstrated that R172W mice developed severe clinical signs of disease nearly identical to those seen in human MD patients, including retinal degeneration, retinal pigment epithlium (RPE) defects and loss of the choriocapillaris.

RPE

retinal degeneration


Input: About half the HCCs with AXIN1 or AXIN2 mutations showed beta-catenin accumulation in the nucleus, cytoplasm or membrane.

HCC

HCC


Input: Because of the importance of NEDD4L to Na + balance, many of these studies have proposed that mutations in NEDD4L may be responsible for these blood pressure phenotypes.

blood pressure


Input: We used a panel of behavioral assays to assess TNFR1 (-/-) and TNFR2 (-/-) mice for anxiety and depression-like behaviors.

depression

depression


Input: Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

Elsahy-Waters syndrome

Elsahy-Waters syndrome


Input: These findings with ADCY8 and ST3GAL1 warrant further investigation in order to confirm the observed associations and their functional significance for BP susceptibility.

BP

BP


Input: Corticosteroid-induced kidney dysmorphogenesis is associated with deregulated expression of known cystogenic molecules, as well as Indian hedgehog.

Indian hedgehog

dysmorphogenesis


Input: Among the significantly regulated miRs, the increased expression of miR-29 family members was associated with a profound downregulation of numerous extracellular matrix (ECM) components in aortas of aged mice, suggesting that this miR family contributes to ECM loss, thereby sensitizing the aorta for aneurysm formation.

ECM

aneurysm


Input: This study examined whether variation in exonic and flanking sequences of the human HLA-F adjacent transcript 10 (FAT10) gene might be associated with susceptibility and clinicopathological development of hapatocellular carcinoma (HCC).

HLA-F

carcinoma


Input: We discovered rare variants in three genes that are clinically associated with sudden cardiac death-TMEM43, DSP, and MYBPC3.

sudden cardiac death

sudden cardiac death


Input: This study paves the way for an alternative gene therapy treatment of status epilepticus, and provides the rationale for studies of AAV-TREK-M' s effect on spontaneous seizures in chronic models of temporal lobe epilepsy.

AAV

temporal lobe epilepsy


Input: Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries.

PHARC

PHARC


Input: In addition to a number of established ischemia-related genes, many genes not previously implicated in transient focal ischemia-induced brain damage [suppressor of cytokine signaling (SOCS)-3, cAMP responsive element modulator (CREM), cytosolic retinol binding protein (CRBP), silencer factor-B, survival motor neuron (SMN), interferon-gamma regulatory factor-1 (IRF-1), galanin, neurotrimin, proteasome subunit RC8, synaptosomal-associated protein (SNAP)-25 A and B, synapsin 1a, neurexin 1-beta, ras-related rab3, vesicular GABA transporter (VGAT), digoxin carrier protein, neuronal calcium sensor-1 and neurodap] were observed to be altered in the ischemic cortex.

neurexin 1

ischemia


Input: Hypothesizing that iron restriction improved her symptoms by decreasing ALAS2 activity and subsequent porphyrin production, we treated the patient with off-label use of deferasirox to maintain iron deficiency, with successful results.

iron deficiency


Input: Collectively, our results support the idea that modulation of RAD9A and other cell cycle arrest and DNA repair proteins contribute to the risk of developing a second malignancy in childhood cancer patients.

second malignancy

second malignancy


Input: TRIM37 transcript was found in all sporadic fibrothecomas examined, but 80% (20/25) of the tumors showed reduced or absent expression of TRIM37 protein.

sporadic


Input: Notably, the regeneration of the CD4 (+) subset was associated with regeneration of the naive T-cell population and was concordant with clearance of plasma viremia.

viremia


Input: Most MYBPC3 mutations may cause haploinsufficiency and with it they may cause a primary increase in calcium sensitivity which is potentially able to explain major features observed in HCM patients such as the hypercontractile phenotype and the well known secondary effects such as myofibrillar disarray, fibrosis, myocardial hypertrophy and remodelling including arrhythmogenesis.

fibrosis


Input: To gain insight into the role of IF proteins in podocytes, we investigated the expression of nestin, vimentin, and desmin in puromycin aminonucleoside (PAN) nephrosis.

desmin

nephrosis

desmin

nephrosis


Input: Marked changes in the expression of the tachykinin peptide neurokinin B (NKB) have been recently observed in animal models of epilepsy.

NKB

epilepsy


Input: In lung cancer patients high serum miR10b values associated with lymph node metastasis (p < 0. 03) and elevated levels of TPA (tissue polypeptide antigen, p = 0. 01), whereas high serum miR141 values associated with elevated levels of uPA (urokinase plasminogen activator, p = 0. 02).

TPA

lymph node metastasis


Input: IL-4 mRNA was detected more frequently, while IL-12 mRNA expression was lower, in the preterm labor group than in the term labor group.

preterm labor


Input: The authors evaluated the TP53 and KRAS2 genes for mutations in sporadic endometrial carcinomas with microsatellite instability (MSI) and matched MSI negative controls to determine whether defective DNA mismatch repair impacts the patterns of mutations in two genes known to be involved in endometrial tumorigenesis.

sporadic


Input: Epidermodysplasia verruciformis (EV) is also a rare autosomal recessive genodermatosis involving susceptibility to human papillomavirus (HPV) infections and squamous cell carcinoma, caused in most cases by homozygous mutations in EVER1 or EVER2.

genodermatosis


Input: We also found that a demethylating agent, 5-aza-2'-deoxycytidine, could enhance PEPP2 expression in leukemia cells but not in blood mononuclear cells from healthy donors.

leukemia


Input: The purpose of this study was to test the hypothesis that germline or somatic mutations of BRCA2 are associated with hereditary and/or sporadic ovarian cancers, respectively.

sporadic


Input: In expanding keratoacanthoma there was little expression of p27 (kip) in nuclei of atypical keratinocytes composing the tumor (1. 25 +/-2. 1 labeled cells per high-power field); in regressing keratoacanthoma the nuclei of most suprabasilar keratinocytes in atypical tumor aggregates contained p27 (kip) (55. 1 +/-28. 6 labeled cells per high-power field).

keratoacanthoma


Input: Among genes markedly and equally over-expressed in carcinomas of both the aggressive and classic PtC groups, compared to normal thyroid tissue, were CBP/p300 transactivator (CItED1), fibronectin, growth/differentiation factor 15, potassium inwardly rectifying channel KCNJ2, glutaminyl peptide cyclotransferase, WNT7A, and dipeptidyl peptidase IV.

carcinomas


Input: Fifty male subjects were included in this study: 30 infertile men with idiopathic severe OAT and 20 healthy fertile men as controls.

OAT

infertile


Input: Differential expression of CCN1/CYR61, CCN3/NOV, CCN4/WISP1, and CCN5/WISP2 in neurofibromatosis type 1 tumorigenesis.

neurofibromatosis type 1


Input: A novel disease-causing mutation in the VMD2 gene (T990C) was found in Japanese patients with Best disease.

Best disease

Best disease


Input: Congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, a segmental overgrowth syndrome, is caused by post zygotic somatic mutations in PIK3CA, a gene involved in the receptor tyrosine kinase phosphatidylinositol 3-kinase (PI3)-AKT growth-signaling pathway.

epidermal nevi


Input: We report a case of a 9 year-old boy with leukemic presentation of ALCL with the typical translocation t (2; 5) (p23; q35); in this patient, the only positive antigens identified by immunophenotyping were CD13, NG2 HLA-DR, and CD38.

translocation


Input: Reduced NIS gene expression in thyroid cancer is likely due in part, to impaired trans-activation at the proximal promoter and/or the upstream enhancer.

NIS

thyroid cancer

NIS

thyroid cancer


Input: Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

Kindler syndrome

Kindler syndrome


Input: Neither of these inhibitors, however, affected tumor necrosis factor alpha, prostaglandin E2 or epinephrine hyperalgesia.

tumor necrosis factor alpha

hyperalgesia

tumor necrosis factor alpha

hyperalgesia


Input: METHODS: The expression of MYH, MSH2, MLH1, and MSH6 proteins was studied by immunohistochemistry in 20 samples (colorectal adenomas or cancer) from 18 patients with biallelic MYH mutation, in 11 samples from patients with germline adenomatous polyposis coli (APC) mutations, in 20 samples from patients with sporadic colorectal cancers, and in 10 samples from patients with normal colonic mucosa without malignancies.

sporadic


Input: The missense mutation reported here suggests that the BRCA2 domain including and surrounding glycine 2901 may be more important in preventing neoplastic transformation in ovarian epithelium than in breast epithelium.

neoplastic transformation


Input: Asparagine synthetase (ASNS) is deemed to be a promising therapeutic target for the treatment of several cancers, but its functional role in human breast cancer is still unknown.

ASNS

cancers


Input: This is important in NP because NF-kappaB can induce the transcription of cytokines, chemokines and adhesion molecules, which play an important role in the inflammatory process.

NF-kappaB

adhesion


Input: Rats injected with interleukin-1 (10 micrograms) and tumor necrosis factor (10 micrograms) and then exposed continuously to hyperoxia (greater than 99% O2, 1 atm) survived longer, had increased lung reduced/oxidized glutathione ratios, smaller pleural effusions, less pulmonary hypertension and improved arterial blood gases.

tumor necrosis factor

pleural effusions

tumor necrosis factor

pleural effusions


Input: No correlation was seen between CaR mRNA in the adenoma and preoperative serum calcium, PTH, or weight of the adenoma.

PTH

weight


Input: LPL-deficient mice with severe hypertriglyceridaemia display enhanced susceptibility to acute pancreatitis.

LPL

acute pancreatitis


Input: For secondary VTE, a Q360H apolipoprotein A4 gene polymorphism (OR, 0. 34; 95% CI, 0. 18 to 0. 65; P = 0. 001; FDR, P = 0. 07) and an I50V interleukin-4 receptor polymorphism (OR, 0. 66; 95% CI, 0. 52 to 0. 84; P = 0. 0009; FDR, P = 0. 07) were moderately, but not statistically and significantly, associated with reduced risk after adjustment for multiple comparisons.

apolipoprotein A4 gene

secondary


Input: Genetic and immunohistochemical studies of available tumors were then carried out to confirm SDHD-related tumorigenesis.

SDHD

tumorigenesis


Input: The association of genes from the RANK/RANKL/OPG pathway and BMDC provides new insight into how this system might affect the skeleton, confirming it to be associated with volumetric cortical bone density but observing no relationship with bone size.

RANKL

bone density


Input: Our findings indicate that inhibitors of the IGF/PI3K/mTOR pathway may be promising novel therapies for these fatal embryonal tumors.

IGF

embryonal tumors


Input: When arterial medial calcification was induced in PiT-1 (Δsm) and PiT-1 (flox/flox) by chronic kidney disease followed by dietary phosphate loading, the degree of aortic calcification was not different between genotypes, suggesting compensation by PiT-2.

aortic calcification


Input: The absence of TLR2, MyD88, and MyD88xTrif conferred both physiologic and histologic protection against sublethal ischemia at 24 h. Interestingly, TLR2-deficient mice were better protected from ischemic renal injury than those deficient for the adapter protein MyD88, raising the intriguing possibility that TLR-2-dependent/MyD88-independent pathways also contribute to kidney injury.

ischemia


Input: Increased CCR2 was observed in the hippocampus after SE.

SE

SE


Input: c-di-GMP turn-over in Clostridium difficile is controlled by a plethora of diguanylate cyclases and phosphodiesterases.

GMP

plethora


Input: A tight linkage between generalized resistance to thyroid hormone (GRTH) and the thyroid hormone receptor-beta (TR beta) gene is indicated.

thyroid hormone receptor-beta

GRTH

thyroid hormone receptor-beta

GRTH


Input: CD4 (+) T lymphocytes were the predominant infiltrate cell subset present in gingival tissues of periodontitis patients.

periodontitis


Input: In vivo: T beta RII immunolocalization in liver tissues was significantly decreased in patients with HCC compared with that of patients with chronic hepatitis or liver cirrhosis.

HCC

chronic hepatitis


Input: Ten genes (LPA, NOX3, SNX9, VIL2, VIP, ADAM8, DOCK1, FANK1, GPR123 and PTPRE) were selected for a subsequent association study performed in a large SLSJ sample (n = 1167) of individuals tested for asthma and atopy related phenotypes.

PTPRE

atopy


Input: Blood levels of homocysteine, factor VIII, and fibrinogen were significantly higher and factor II levels were significantly lower in hemodialysis patients than in controls, whereas factor VII, factor IX, and natural coagulation inhibitor levels were similar in patients and controls.

factor VIII

fibrinogen


Input: Compared with the control diet, the HM/LF diet diminished endothelium-dependent dilation to 10 micromol/L acetylcholine in cerebral arterioles of both wild-type (12 + or-2 versus 29 + or-3%; P < 0. 001) and DDAH1 Tg (14 + or-3 versus 28 + or-2%; P < 0. 001) mice.

dilation


Input: The association between 82 common single nucleotide polymorphisms (SNPs) in six lipid-related or statin-related genes (ABCB1, CETP, HMGCR, LDLR, LIPC, NOS3) and incident nonfatal myocardial infarction (MI) and ischemic stroke was analyzed according to current statin use and overall in a population-based case-control study (856 MI, 368 stroke, 2686 controls).

stroke


Input: We have studied two tissue microarrays that include 103 familial and 104 sporadic breast tumors, with a panel of DNA repair markers including ATM, CHEK2, RAD51, RAD50, XRCC3, and proliferating cell nuclear antigen.

sporadic


Input: Serum positivity and level of HP-NAP-specific antibodies in sera from 43 patients with gastric cancer, 28 with chronic gastritis, 28 with peptic ulcer, and 89 healthy controls were measured by rHP-NAP-based ELISA.

NAP

peptic ulcer


Input: We suggest that in addition to the inactivation of the ARF-MDM-2-p53 protective checkpoint function other antiapoptotic mutations may occur in a substantial part of children with sporadic BL.

sporadic


Input: In conclusion, SHP partially protects FXR (-/-) mice from HCC formation by reducing tumor malignancy.

SHP

HCC

SHP

HCC


Input: Human ovarian cancer, cell lines, and primary ascites cells express the human Mullerian inhibiting substance (MIS) Type II Receptor, bind, and are responsive to MIS.

MIS

ascites


Input: Genetic deletion of mTOR complex 1 (mTORC1) in mouse podocytes induced proteinuria and progressive glomerulosclerosis.

proteinuria


Input: There was selective expression in paraffin-embedded sections of alpha B-crystallin (CRYA2) in oligodendroglia in all areas of the nervous system examined.

nervous system


Input: Importantly, in using either transiently silenced ATR cells, cells expressing an inactive form of ATR or cells exposed to an ATR inhibitor (CGK733), we demonstrate that hypoxic ATR activation positively regulates the key transcription factor HIF-1 independently of the checkpoint kinase Chk1.

hypoxic


Input: We suggest that in adolescent girls with primary amenorrhea, müllerian duct abnormalities, and hyperandrogenism, a WNT4 mutation should be sought.

abnormalities


Input: nm23, a tumor metastasis suppressor gene, has been linked to protection against tumorigenesis and tumor metastasis.

tumorigenesis


Input: The purpose of this study was to evaluate the effects of partial sleep deprivation (PSD) on circulating concentrations of interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-α) in relation to the secretory profiles of growth hormone (GH), cortisol, and testosterone during a repeated brief sprint interval exercise.]

TNF-α

sleep deprivation


Input: Importantly, Wwox KO mice displayed histopathological and hematological signs of impaired hematopoiesis, leukopenia, and splenic atrophy.

Wwox

leukopenia


Input: Therefore, a reduced GIP-induced insulin secretion in patients with type 2 diabetes and their first-degree relatives at hyperglycemia is more likely due to a general defect of B-cell function than to a specific defect of the GIP action.

GIP

hyperglycemia


Input: A strong correlation between the expression of N-cadherin, vimentin and JAK2/STAT3 levels were detected in high-grade ovarian tumors and was consistent with the previously reported enhanced expression of alpha6 integrin subunit in advanced tumors [Ahmed N, Riley C, Oliva K, Rice G, Quinn M. Ascites induces modulation of alpha6beta1 integrin and urokinase plasminogen activator receptor expression and associated functions in ovarian carcinoma.

N-cadherin

ovarian carcinoma


Input: Interestingly, the induced cyclin E1 and cyclin A2 caused by Pdk4 deficiency was repressed by arsenic treatment in mouse liver and in HCC cells.

HCC

HCC


Input: Genes such as ELTD1 on chromosome 1, in addition to genes on chromosomes 4 (eg, GABRA2) and 6 (eg, CNR1), may be associated with the genetic risk for cannabis use disorders.

cannabis use

cannabis use


Input: While mutation in a number of genes encoding complex I subunits essentially result in neurological symptoms, this first mutation in NDUFV2 is strikingly associated with cardiomyopathy, as previously observed in the unique case of NDFUS2 mutations.

neurological symptoms


Input: MTP mRNA levels also had an inverse correlation with serum insulin (P =. 0002), homeostasis model assessment-insulin resistance (HOMA-IR) (P =. 005), and body mass index (P =. 02) in patients with HCV-1 and HCV-2 and with serum HCV-RNA (P =. 02) in HCV-3 patients.

MTP

insulin resistance


Input: Upregulation of MiR-369-3p suppresses cell migration and proliferation by targeting SOX4 in Hirschsprung' s disease.

Hirschsprung' s disease

Hirschsprung' s disease


Input: To examine the possible mechanisms leading to high levels of PLTP expression in vivo, we exposed the pre-type II cells to hypoxia and demonstrated induction of PLTP mRNA and a coordinate increase in secreted PLTP activity.

PLTP

hypoxia


Input: There were no significant interactions between LIPC and smoking, BMI, or lutein.

LIPC

smoking


Input: We also found a highly significant association between plasma apolipoprotein B concentration and variation in diastolic pressure but not systolic pressure.

apolipoprotein B

systolic pressure


Input: Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

microsomal glucose-6-phosphate transporter

Glycogen storage disease type Ib

microsomal glucose-6-phosphate transporter

Glycogen storage disease type Ib


Input: Together, these findings point to the role of HER2-positive exosomes in modulating sensitivity to Trastuzumab, and, consequently, to HER2-driven tumor aggressiveness.

aggressiveness


Input: Gene organization in t (14; 16) patients may influence translocation potential of MAF with IGH.

MAF

translocation


Input: We recently described mutations of the neuronal sodium-channel alpha-subunit gene, SCN1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS +) type 2.

GEFS +) type 2

GEFS +) type 2


Input: To investigate the relationship between the expression of FOXM1, CEP55, and HELLS in oropharyngeal squamous cell carcinoma to human papillomavirus (HPV), smoking, and tumor stage.

HELLS

smoking


Input: In conclusion, CD99 expression and EWS/FLI1 translocation are specific and sensitive markers in the diagnosis of ESFTs.

EWS

translocation


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

body fat percentage


Input: Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis.

cone-rod dystrophy and amelogenesis imperfecta

cone-rod dystrophy and amelogenesis imperfecta


Input: We investigated the frequency of promoter region CpG island methylation (CIM) of hMLH1, MGMT, MINT1, MINT2, and p16 and K-ras mutations in a total of 79 hyperplastic (serrated) polyps (HPs) from 75 patients and correlated the molecular profiles to polyp location in the colorectum, histologic variation, and other factors.

polyps


Input: Absence of Metallothionein 3 Expression in Breast Cancer is a Rare, But Favorable Marker of Outcome that is Under Epigenetic Control.

Metallothionein 3

Breast Cancer

Metallothionein 3

Breast Cancer


Input: Molecular amplification of genomic VH genes and Southern hybridization with somatic CDR2-specific oligonucleotide probes showed that the configuration of the VH genes corresponding to VH sequences in the nephritogenic antibodies is not present in the patient' s own germ-line DNA, implying that the B-cell clones underwent somatic mutation in vivo.

somatic mutation


Input: Finally, while screening for somatic alterations in TP53 in a series of 141 sporadic breast tumors, we detected a constitutional missense mutation in codon 235 in a woman diagnosed with breast cancer at age 26 and a recurrence 4 years later.

sporadic


Input: We studied factor (F) VIII deficient individuals (11 mild, 4 moderate and 12 severe) with a well-characterized 5-year bleeding history that included haemarthrosis, soft tissue haematoma and annual FVIII concentrate usage.

VIII

haemarthrosis


Input: Most notably, the severe chromosomal abnormality did not cause cell death owing to the activation of AKT pathway, including elevated levels of phosphorylated AKT and mammalian target of rapamycin, and nuclear accumulation of cyclin D1, which enabled continuous proliferation of the tetraploid cells.

mammalian target of rapamycin

chromosomal abnormality


Input: Only one Asian case with molecular demonstration of the NUP98-HOXA9 fusion has been reported in therapy-related leukemia.

therapy-related leukemia


Input: However, it is still unclear whether the TNF-alpha polymorphism is related to the sporadic Alzheimer' s disease (SAD) in China as well.

TNF-alpha

sporadic


Input: Study participants with a complete data set in terms of smoking and the TNF-alpha G-308A polymorphism were 300 middle-aged male and female industrial employees.

TNF-alpha

smoking


Input: (In this study, working with a bleomycin (BLM)-induced scleroderma model mice, we performed two transfections of human hepatocyte growth factor (HGF) cDNA into the skeletal muscle and showed that this treatment not only helped to prevent the dermal sclerosis simultaneously injected BLM but also improved the symptoms of dermal sclerosis induced by BLM 4 weeks previously.)

HGF

sclerosis


Input: Behavioral tests demonstrate that AS ODN targeting NaV1. 9, but not NaV1. 8, reverses melittin-induced heat hypersensitivity.

NaV1. 8

hypersensitivity


Input: Defective DNA topoisomerase II in ataxia-telangiectasia cells.

DNA topoisomerase II

telangiectasia


Input: X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T & gt; G (Leu55Arg)

hypohidrotic) ectodermal dysplasia

hypohidrotic) ectodermal dysplasia


Input: Weight, relative weight (relative to NCHS median for age, sex, and stature), subcutaneous fatfolds, various indices of obesity, and other measures of body size were significantly correlated with systolic blood pressure (SBP) and DBP in each sex (r = 0. 3 to 0. 7).

DBP

systolic blood pressure