Input: The thiopurine drugs azathioprine, mercaptopurine and thioguanine are substrates for TPMT; these drugs exhibit well documented myelosuppressive effects on haematopoietic cells and have a track record of idiosyncratic drug reactions.

TPMT

drug reactions


Input: In order to identify new mutations in the AGXT gene we studied 79 PH1 patients using single strand conformation polymorphism analysis.

AGXT

AGXT


Input: These data suggest that ADM plays an important role in promoting bladder cancer cell growth under hypoxia and that the inhibition of ADM may provide a target for bladder cancer therapy.

ADM

hypoxia


Input: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

malformations of cortical development

malformations of cortical development


Input: The HBx-Skp2 interaction led to the accumulation of transcriptionally active E2F1 and histone methyltransferase mixed lineage leukemia 1 (MLL1) protein.

mixed lineage leukemia


Input: Recent studies of rare human translocation patients narrowed the PWS critical genes to a 121-kb region containing PWCR1/HBII-85 and HBII-438 snoRNA genes.

translocation


Input: HLA-DR3 seems a marker of the intermediate form of uveitis (p, uncorrected 0. 03); the absence of DR1 in the patient group with posterior uveitis may be a protecting factor (p. uncorrected less than 0. 01); the presence of DR4 in all cases of panuveitis is statistically significant (p, uncorrected = 0. 0006).

posterior uveitis


Input: Osteopontin (Opn) is a Th1 cytokine whose levels have been found increased in granulomas and serum samples from patients with sarcoidosis.

sarcoidosis


Input: 1LPS, but not 6LPS group, showed decreased food intake and body weight, which was associated with an increased plasma leptin and higher mRNA expression of OB-Rb, MC4R, and SOCS3 in the hypothalamus.

body weight


Input: Male subjects with iron deficiency from the general population were examined for polymorphisms or sporadic mutations in TMPRSS6 to identify genetic risk factors for iron deficiency anemia.

sporadic


Input: Polycomb-group proteins Bmi1 is regarded as a " stemness " gene involved in the maintenance of stem cells, malignant transformation, and biologic aggressiveness of several human carcinomas.

aggressiveness


Input: The present study aimed to investigate the involvement of GRP in endoplasmic reticulum (ER) stress-mediated apoptosis during colon cancer development, with focus on the correlation between AST-evoked regulation of GRP and calpain activation.

AST

colon cancer


Input: The exons 8 and 14 of ATP7B gene were analyzed in 65 unrelated Wilson disease patients by Denaturing High Performance Liquid Chromatography, and samples with abnormal peak profile were selected for direct DNA sequencing.

Wilson disease

Wilson disease


Input: The results will contribute to the expanding database of ATP2A2 & #8195; mutations in patients with DD and be useful for inherited counseling and prenatal examination for affected families.

DD

DD


Input: Familial clustering of juvenile autoimmune liver disease (AILD), including autoimmune hepatitis and autoimmune sclerosing cholangitis (ASC), is rare, despite a high prevalence of autoimmune disorders in AILD families.

ASC

autoimmune disorders


Input: We studied gene variants in the tyrosine hydroxylase (rs3842727, rs6356) and DOPA decarboxylase (rs1451371, rs1470750, rs998850) genes in a sample of 571 individuals consisting of 167 German suicide attempters (affective spectrum n = 107, schizophrenia spectrum n = 35, borderline personality disorder n = 25), 92 Caucasian individuals who committed suicide and 312 German control subjects.

tyrosine hydroxylase

personality disorder


Input: Because PRKCSH encodes GII & #946;, GANAB is a strong ADPKD and ADPLD candidate gene.

GANAB

ADPKD

GANAB

ADPKD


Input: It remains to be determined if JAK2 inhibitors can considerably impact disease progression and bone marrow histologic features (e. g., fibrosis) or significantly impact the JAK2 allele burden.

fibrosis


Input: MicroRNA-181c functions as a protective factor in a 1-methyl-4-phenylpyridinium iodide-induced cellular Parkinson' s disease model via BCL2L11.

Parkinson' s disease

Parkinson' s disease


Input: We report on a 12-year-old boy with Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) due to mutations in the SAMHD1 (sterile alpha motif domain and HD domain-containing protein 1) gene, illustrating an emerging pattern of the natural history of Aicardi-Goutières syndrome characterized by neurological disease followed by symptoms of systemic autoimmunity.

neurological disease


Input: We report somatic mutations in three genes (CSNK1 epsilon, encoding the Ser/Thr kinase casein kinase I epsilon; DLG1, encoding a membrane-associated putative scaffolding protein; and EDD/hHYD, encoding a progestin induced putative ubiquitin-protein ligase) in mammary ductal carcinoma.

ubiquitin-protein ligase

mammary ductal carcinoma


Input: These data represent the first in vivo experimental validation of the association of Adamts7 with atherogenesis, likely through modulation of vascular cell migration and matrix in atherosclerotic lesions.

atherogenesis


Input: In a large community population (n = 1000; age, 50 to 65 years), we studied the effects of the interleukin-6 (IL-6)-174 polymorphism and gene-alcohol interactions on common carotid artery intima-media thickness (CCA-IMT) and carotid plaque.

plaque


Input: CSE induced TSLP expression in the mouse lung in an oxidative stress-dependent and TNF-alpha receptor I-dependent manner, and when challenged simultaneously with an antigen, CSE promoted the development of airway inflammation in association with T (H) 2-type immune responses.

CSE

inflammation


Input: Beta 0-thalassemia due to a nonsense mutation at beta 90 (GAG----TAG) in human hemoglobin gene.

TAG

thalassemia


Input: MPP + rapidly increased the binding, followed by dissociation, which is probably needed for WOX1 to exert apoptosis.

dissociation


Input: This study investigates the immunohistochemical expression of the important cell cycle regulators phosphatase and tensin homolog deleted on chromosome 10 (PTEN), p27, Cks1, and Skp2 in 128 non-small cell lung carcinomas (64 adenocarcinomas, 46 squamous cell carcinomas, and 18 large cell undifferentiated carcinomas) and adjacent non-neoplastic lung tissue.

non-neoplastic


Input: In these organs, the SOX2 protein plays an important role in tumorigenesis and tumor survival.

tumorigenesis


Input: In monocarboxylate transporter 8 (MCT8) gene deficiency, a syndrome combining thyroid and neurological abnormalities, the central nervous system has not yet been characterized by magnetic resonance (MR) spectroscopy.

abnormalities


Input: The relationships between mismatch repair (MMR) protein expression, microsatellite instability (MSI), family history, and germline MMR gene mutation status have not been studied on a population basis.

MMR

microsatellite instability


Input: ERCC1 influence on the incidence of brain metastases in patients with non-squamous NSCLC treated with adjuvant cisplatin-based chemotherapy.

metastases

metastases


Input: Some exons of ATP7B gene mutations were analyzed in patients with WD by using biochemical methods, polymerase chain reaction-single strand configuration polymorphism (PCR-SSCP) and DNA sequence analysis.

WD

WD


Input: IL-1β, TNF-α, IL-17 and IL-23 have been reported to be involved in Hp-induced gastric mucosal inflammation, but the details and association to different patterns of inflammation and virulence factors remain unclear.

mucosal inflammation


Input: Hematopoietic stem cell expansion and distinct myeloid developmental abnormalities in a murine model of the AML1-ETO translocation.

translocation


Input: Molecular cloning of the t (18; 22) (q21. 3; q11) showed that the translocation disrupted the BCL2 promoter region and the first untranslated BCL2 exon.

translocation


Input: Downregulation of APOBEC3G by xenotropic murine leukemia-virus related virus (XMRV) in prostate cancer cells.

prostate cancer


Input: The rAAV-antiCD151 is a novel tool, which can reduce the expression of CD151 and inhibit the migration of the tumor cells, and brings us a new approach of anti-sene gene therapy targeted at CD151 in human carcinoma.

carcinoma


Input: In conclusion, abnormalities of the E-cadherin/catenin complex appear to be more pronounced in DSV than in classical PTC.

E-cadherin

abnormalities


Input: Under hypoxic conditions, HEXIM1 inhibits estrogen-induced hypoxia-inducible factor-1 alpha (HIF-1alpha) protein expression and recruitment of HIF-1alpha to the hypoxia-response element in the VEGF promoter.

VEGF

hypoxia


Input: Haplotypes that included DDX39B (-22C > G and-348C > T) and TNF polymorphisms were not directly associated with mild or complicated malaria infections; however, haplotypes AGC, ACC, GGT, AGT and ACT were associated with increased TNF levels.

GGT

infections


Input: Rats with streptozotocin (STZ)-induced diabetes exhibit alterations in cardiac function, ventricular remodeling, and changes in cell signaling, which includes protein kinase C (PKC) isoforms.

STZ

ventricular remodeling


Input: These results suggest that in male mice GHRH deficiency brings about an increased physical activity and decreased anxiety-and depression-related behaviour, possibly related to increased TRH and decreased NE levels in the brain.

TRH

depression

TRH

depression


Input: These findings suggest that the ZNF74 gene plays a role as one of the modifying factors for schizophrenia.

schizophrenia

schizophrenia


Input: In 276 stroke cases, depression was diagnosed using DSM-IV at 2 weeks after stroke, further classified to major PSD (N = 29), all (major plus minor) PSD (N = 77), and control (N = 199) groups.

PSD

stroke


Input: These results suggest that RNF43 is involved in tumorigenesis and progression of HCCs and that antagonism of RNF43 may be beneficial for HCC treatment.

tumorigenesis


Input: Furthermore, the expression of both HERV-E and ERV3 (another class of HERV) was detected in the same prostate carcinoma tissues.

prostate carcinoma


Input: In addition, the effects of cytokines on AdipoR1 and AdipoR2 expression in cultured gastric cancer cells were examined.

gastric cancer


Input: Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.

bipolar disorder

bipolar disorder


Input: To clarify the proteomic differences in LCA eyes, a cohort of retinal degeneration 12 (rd12) mice, an LCA2 model caused by a mutation in the RPE65 gene, were injected subretinally with an AAV vector (scAAV5-smCBA-hRPE65) in one eye, while the contralateral eye served as a control.

AAV

retinal degeneration


Input: The levels of a small heat shock protein (Hsp) 20 and its phosphorylation are increased on ischemic insults, and overexpression of Hsp20 protects the heart against ischemia/reperfusion injury.

ischemia


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.

VEGF

hypoxia


Input: We cultured the two cell lines under hypoxia and normoxia and examined the influence of hypoxia on the expression of hypoxia-inducible factors (HIFs) and the cancer stem-like properties of these cells, including cell cycle distribution, expression of stem cell genes (OCT4, SOX2 and NANOG) and laryngeal CSC surface marker (CD133), proliferation, invasion, colony formation and sphere formation capacity.

hypoxia


Input: It demonstrated that apoM expression was significantly positively correlated to the placental weight, fetal birth weight, pregestational body mass index (BMI), weight gain during pregnancy, maternal weight, maternal BMI and the mRNA levels of IGF-IR as well as IGF-IIR.

apoM

weight gain


Input: The Wilson disease gene, a copper transporting ATPase (Atp7b), is responsible for the sequestration of Cu into secretory vesicles, and this function is exhibited by the orthologous Ccc2p in the yeast.

Wilson disease

Wilson disease


Input: Our data validate the concept of enhanced anti-tumor immunity by repetitive ACT of ex vivo cblb siRNA-silenced hyper-reactive CD8 (+) T cells as add-on adjuvant therapy to augment the efficacy of existing cancer immunotherapy regimens in clinical practice.

cblb

tumor immunity


Input: The RNA-binding proteins, TDP-43 and FUS, are principal components of cytoplasmic inclusions found in motor neurons of ALS patients and mutations in TDP-43 and FUS are linked to familial and sporadic ALS.

FUS

sporadic


Input: Initially the sera of 30 individuals (six normoglycemic HCC patients, three with HCC and recurrent hypoglycemia, 11 patients with noncancerous liver diseases, and 10 healthy black controls) were analyzed for the presence of insulin (and glucagon) antibodies by precipitating the bound, labeled hormone with ethanol and also by the technique of radioimmunoelectrophoresis.

HCC

liver diseases


Input: Immunomodulatory effects of secondary hyperparathyroidism on circulating CD4 + and CD8 + T-lymphocytes in chronic renal failure patients.

chronic renal failure


Input: The NLRP1 variant (rs12150220) was significantly more common in fair-skinned female patients (OR, 1. 85; CI, 1. 04-3. 33) and showed strong associations with nodular melanoma (OR, 6. 03; CI, 1. 33-25).

nodular melanoma


Input: SNPs in CHRNA6 and CHRNB3 are associated with alcohol consumption in a nationally representative sample.

alcohol consumption


Input: This targeted analysis involving NOTCH1 exons previously implicated in familial and sporadic bicuspid aortic valve demonstrates overrepresentation of NOTCH1 missense variants among patients with bicuspid aortic valves and thoracic aortic aneurysms.

sporadic


Input: Changes in VEGF-A expression during hypoxia were preceded by nuclear accumulation of hypoxia inducible factor-1alpha (HIF-1alpha).

VEGF-A

hypoxia


Input: Approximately 95% of all Friedreich' s ataxia (FA) patients are homozygous for a large GAA triplet-repeat expansion in the first intron of the Friedreich' s ataxia gene (FRDA).

Friedreich' s ataxia

FA

Friedreich' s ataxia

FA


Input: Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

Leber hereditary optic neuropathy

Leber hereditary optic neuropathy


Input: Monoammonium glycyrrhizinate (MAG) is used for the treatment of viral hepatitis or the prevention of chronic liver diseases.

MAG

viral hepatitis


Input: To establish a possible functional relationship between IL-18 and MMPs in myeloid leukemia, we used semi-quantitative PCR and zymographic analysis to examine whether IL-18 stimulates human myeloid leukemia cell line HL-60 to produce MMPs and/or specific tissue inhibitors (TIMPs), and to degrade extracellular matrix (ECM) gel in vitro.

ECM

myeloid leukemia


Input: A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.

polycythaemia vera

polycythaemia vera


Input: Female, but not male, TRH-R2 knockout mice exhibit moderately increased depression-like and reduced anxiety-like phenotypes.

TRH

depression

TRH

depression


Input: We report here on the screening of 596 sporadic ALS patients, 41 familial ALS cases and other motor neuron disease patients from Germany for mutations in the FUS/TLS gene.

TLS

sporadic


Input: Here, we tested the hypothesis that hyperglycemia mediates induction of VEGF expression in a eukaryotic initiation factor 4E (eIF4E) binding protein (4E-BP) 1 and 2 dependent manner.

hyperglycemia


Input: No correlation was found between salbutamol responsiveness and ADRB2 genotype in Northern Indian children with asthma with mild-to moderate exacerbation.

mild


Input: A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation.

congenital macrostomia

congenital macrostomia


Input: Rho family members are known to regulate malignant transformation and motility of cancer cells, but the clinicopathological significance of RhoC remains unclear yet in the case of gastric cancer.

RhoC

gastric cancer


Input: The ovarian histological findings suggest that ovarian cysts detected ultrasonographically in 46, XX individuals with STAR gene defects may be CL cysts.

STAR gene

cysts


Input: Two polymorphisms in IL-21, rs907715G/A and rs4833837A/G, were identified in 278 ischemic stroke patients and 282 healthy controls.

ischemic stroke


Input: The aim of this study was to assess the influence of genetic variability of innate immune receptors (mannose-binding lectin [MBL], mannose-associated serine-protease-2 [MASP-2], and Toll-like receptors [TLR4]) in the risk of infections after a kidney transplantation.

MASP

infections


Input: Thus, these data suggest that bcl-2 expression occurs in cervical carcinoma cell lines in the absence of chromosomal translocation or rearrangement of the bcl-2 gene.

bcl-2 gene

chromosomal translocation


Input: CAD patients showed significantly higher frequencies of dyslipidemia and smoking (P < 0. 05) than controls, but no significant association was found between overall risk factors and the OLR1 polymorphism.

smoking


Input: Furthermore, Ang II increases Atox1 binding to the copper exporter ATP7A, which obtains copper from Atox1, as well as translocation of ATP7A to plasma membranes, where it colocalizes with SOD3.

translocation


Input: In ED-treated mice, 4 weeks after METH treatment, we evaluated fear conditioning, depression-like responses in forced swim test, and the basal and METH-induced activity of AKT and GSK-3 & #946; in the ventral striatum.

AKT

depression

AKT

depression


Input: Weekly cisplatin, epirubicin, and paclitaxel with granulocyte colony-stimulating factor support vs triweekly epirubicin and paclitaxel in locally advanced breast cancer: final analysis of a sicog phase III study.

granulocyte colony-stimulating factor

breast cancer

granulocyte colony-stimulating factor

breast cancer


Input: Where absence of MMR proteins was detected, microsatellite instability and cytosine methylation of the respective gene promoter were analyzed.

MMR

microsatellite instability


Input: Repression of miR-17-5p with elevated expression of E2F-1 and c-MYC in non-metastatic hepatocellular carcinoma and enhancement of cell growth upon reversing this expression pattern.

MYC

metastatic hepatocellular carcinoma


Input: Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout.

hypoxanthine guanine phosphoribosyltransferase

Lesch-Nyhan syndrome

hypoxanthine guanine phosphoribosyltransferase

Lesch-Nyhan syndrome


Input: Genotype status at the DRD2 intron 2 simple tandem repeat was related to cigarettes per day (P = 0. 035) and heaviness of smoking index (P = 0. 049).

smoking


Input: To explain this paradox, we tested whether in the absence of NQO1 ozone exposure results in increased generation of A (2)-isoprostane, a cyclopentenone isoprostane that blunts inflammation.

inflammation


Input: The hearts of CD36-defective SHR exhibited uncoupling of glucose oxidation from its cellular entry, accompanied with the enhanced protein O-GlcNAcylation, suggesting increased glucose shunt through the HBP.

HBP

shunt


Input: The immunohistochemical results demonstrate that high expression of CYP7B1 protein occurs in high-grade prostatic intraepithelial neoplasia (PIN) and adenocarcinomas.

adenocarcinomas

adenocarcinomas


Input: Collectively, these studies indicate that podocyte VEGF-A regulates alpha (V) beta (3) integrin signaling in the glomerulus, and that podocyte VEGF knockdown disrupts alpha (V) beta (3) integrin activity via decreased VEGFR2 signaling, thereby damaging the three layers of the glomerular filtration barrier, causing proteinuria and acute renal failure.

VEGF

acute renal failure

VEGF

acute renal failure


Input: Importantly, treatment of mice with either Pcpl or EpCAM antibody solution caused 80% mortality and/or haemorrhage, respectively, thus causing unacceptable toxicity.

EpCAM

haemorrhage


Input: Expression of SP-B,-C, and ABCA3 are coregulated during late gestation by transcriptional programs influenced by thyroid transcription factor-1 and forkhead box a2, transcription factors that regulate both differentiation of the respiratory epithelium and transcription of genes required for perinatal adaptation to air breathing.

forkhead box a2

breathing


Input: Using homozygosity mapping followed by exome sequencing we identified an ST3GAL3 mutation in three infants with West syndrome.

West syndrome

West syndrome


Input: Genetically engineered disulfide bonds in B-domain-deleted factor (F) VIII variants (C662-C1828 FVIII and C664-C1826 FVIII) improve FVIIIa stability by blocking A2 domain dissociation because the new disulfide covalently links the A2 and A3 domains in FVIIIa.

FVIII

dissociation


Input: CD2 + APL was associated significantly with leukocytosis (P =. 004), shorter complete remission duration (P =. 03), and a trend toward shorter overall survival (P =. 07) than CD2-APL.

leukocytosis


Input: Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.


Input: Inhibition of farnesoid X receptor controls esophageal cancer cell growth in vitro and in nude mouse xenografts.

farnesoid X receptor

esophageal cancer


Input: Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals.

CHARGE syndrome

CHARGE syndrome


Input: An amplicon present in > 70% of the tumor samples at 20q11-20q13 contained several cancer-related genes (AHCY, POFUT1, RPN2, TH1L, and PRPF6) that were upregulated and demonstrated a significant linear correlation (P < 0. 05) for gene dosage and gene expression.

cancer


Input: Human formyl peptide receptor 1 C32T SNP interacts with age and is associated with blood pressure levels.

formyl peptide receptor 1

blood pressure


Input: TNF2, a polymorphism of the tumour necrosis-alpha gene promoter, is a component of the celiac disease major histocompatibility complex haplotype.

alpha gene

celiac disease


Input: Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

episodic ataxia type 2

episodic ataxia type 2


Input: Sequence analysis of the amplified products has revealed a single missense mutation in SGLT1 which cosegregates with the GGM phenotype and results in a complete loss of Na (+)-dependent glucose transport in Xenopus oocytes injected with this complementary RNA.

GGM

GGM


Input: We conclude that DDX1 is a critical factor for testicular tumorigenesis.

tumorigenesis


Input: Sixty-four thymic epithelial neoplasms (27 cases of benign thymoma, 20 cases of invasive thymoma, and 17 cases of true thymic carcinoma) were studied for neoplastic epithelial cell expression of CD74 and MHC class II molecules by immunohistochemical staining of paraffin-embedded tissue.

invasive thymoma


Input: Transgenic simulation of human heart failure-like L-type Ca2 +-channels: implications for fibrosis and heart rate in mice.

heart rate


Input: Further, most of these genes had corresponding reduced expression levels in gastric cancer compared with intestinal metaplasia, including novel hypermethylated genes in gastric cancer (FLI1, GALR1, SGCE, and SNRPN), suggesting that they may regulate neoplastic transformation from non-malignant intestinal metaplasia to cancer.

SNRPN

neoplastic transformation


Input: Patients have to be examined carefully for neuropsychological abnormalities, optic neuropathy, and signs of brain iron accumulation in MRI.

MRI

optic neuropathy


Input: Abnormal aggregates of transactive response DNA-binding protein-43 (TDP-43) and its hyperphosphorylated and N-terminal truncated C-terminal fragments (CTFs) are deposited as major components of ubiquitinated inclusions in most cases of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitinated inclusions (FTLD-U).

DNA-binding protein

amyotrophic lateral sclerosis


Input: Arg16 allele of ADRB2 R16G, smoking and overeating were linked to an increased risk of obesity in adults.

overeating


Input: In the discovery cohort, several LRP5 SNPs were associated with vertebral fractures (odds ratio (OR) 0. 67; P = 0. 01), with hip fractures (unadjusted ORs between 0. 59 and 1. 21; P = 0. 005-0. 033, but not significant after multiple test adjustment or age adjustment), and with height and the projected femoral neck area, but not with BMD.

height


Input: These findings implicate a novel gene and a novel mechanism in the etiology of MEB/WWS and expand the clinical spectrum of COL4A1-associated disorders.

WWS

WWS


Input: Increased IP-10 levels in HCMV-positive BALF samples were significantly associated with severe airflow obstruction, as indicated by a decrease in forced expiratory volume in one second (FEV1).

forced expiratory volume


Input: Novel FUS mutation in patients with sporadic amyotrophic lateral sclerosis and corticobasal degeneration.

FUS

sporadic


Input: These results suggest that induction of autophagy pathway is involved in the cellular response to mutant Seipin in seipinopathy and that motoneuron loss is a key pathogenic process underlying the development of locomotor abnormalities.

Seipin

abnormalities


Input: The messenger RNA expression of UGT2B17 and myeloid cell leukemia-1 (Mcl-1) was significantly increased in EC tissues compared with matched normal endometrial tissues.

leukemia


Input: Fluorescence in situ hybridization showed a split signal for RUNX1, which indicated that RUNX1 was involved in this translocation.

translocation


Input: Our experiment showed that the inhibition of TXS significantly induced the death or apoptosis in lung cancer cells.

TXS

lung cancer


Input: We investigated polymorphisms of the histamine H1 (HRH1) and muscarinic acetylcholine receptor M3 (CHRM3) receptor genes for an association with body mass index (BMI) and glycated hemoglobin (HbA1c).

body mass index


Input: Continuous infusion is required for suppression of both thermal hyperalgesia and TRPV1 expression, because removal of NT-3 resulted in a prompt reestablishment of the hyperalgesic state and corresponding CCI-associated TRPV1 phenotype.

thermal hyperalgesia

thermal hyperalgesia


Input: We further show that transgenic mice overexpressing the RCAN1-1L protein exhibit accumulation of hyperphosphorylated tau protein (AT8 antibody), an early precursor to the formation of neurofibrillary tangles and neurodegeneration of the kind seen in Alzheimer disease.

neurofibrillary tangles


Input: The t (14; 18) chromosomal translocation occurring in most follicular lymphomas can be exploited by a Bcl2/JH polymerase chain reaction (PCR) to detect residual disease and to monitor the effectiveness of ex-vivo tumor cell immunological purging.

chromosomal translocation


Input: These results indicate that PBMC of recurrent cancer patients can produce HGF and that their sera may contain substances that induce HGF mRNA expression.

HGF

recurrent cancer


Input: Serum VEGF levels were not altered by either hypoxia or L-NAME infusion (P =. 348 O2 levels, P =. 205 L-NAME).

VEGF

hypoxia


Input: These findings indicate that ischemia-mediated up-regulation of CHOP down-regulates cell surface GABAB receptors by preventing their trafficking from the ER to the plasma membrane.

CHOP

ischemia


Input: MGMT methylation status, MGMT and CD133 expression profiles were assessed in 59 malignant glioma patients using methylation-specific polymerase chain reaction (MSP), and immunohistochemistry.

MSP

malignant glioma


Input: Compared with asthma patients, eosinophils from CSS patients showed a significantly lower percentage of recombinant TRAIL, less autologous T cell-induced apoptosis, and decreased level of active caspase 3.

caspase 3

asthma


Input: On the basis of the presence of transcription factor binding sequence in the promoters of differentially regulated genes (significant enrichment PE: 6 × 10 (5)) and the consistent expression of STAT3 (mRNA, P = 0. 0159 and Protein, P = 0. 0467), we hypothesize that unphosphorylated STAT3 may directly DNA bind and probably affect the genes that are involved in inflammation and late cerebral ischemia to influence the pathologic progression of SAH.

SAH

inflammation


Input: Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.

CTC1 gene

cysts


Input: Our findings suggest that seizures caused cognitive dysfunction and a decrease of ChAT and AChE activities that might be related, at least in part, to the neurological problems presented by seizures induced by pilocarpine.

AChE

seizures

AChE

seizures


Input: Furthermore, an HIF-2alpha-knockdown significantly increased Bcl-2/adenovirus E1B 19 kDa-interacting protein 3 (BNIP3) expression in an HIF-1alpha-dependent manner.

adenovirus


Input: In conclusion, bladder cancer cells express CXCR4 progressively with advanced tumorigenesis and this receptor interacts with CXCL12 to mediate tumor chemotaxis and invasion through connective tissue.

tumorigenesis


Input: Association of MiR-126 with soluble mesothelin-related peptides, a marker for malignant mesothelioma.

malignant mesothelioma

malignant mesothelioma


Input: cx43 was studied in 38 cases of sporadic and familial heterotaxy.

sporadic


Input: Lysyl oxidase (LOX) has been reported to regulate tumor metastasis and has been found to involve in modification of extracellular matrix (ECM) in the context of tumorigenesis.

ECM

tumorigenesis


Input: If these were included, ovarian cancer (SMR 5. 16, 95% CI 1. 89-11. 24, P = 0. 001), invasive cervical cancer (SMR 4. 21, 95% CI 1. 15-10. 79, P = 0. 016), male breast cancer (SMR 290. 52, 95% CI 125. 42-572. 43, P < 0. 0001), and prostate cancer (SMR 2. 21, 95% CI 0. 89-4. 56, P = 0. 042) were significantly increased.

SMR

invasive cervical cancer


Input: Hypotrichosis with juvenile macular dystrophy (HJMD) (MIM 601553) is a rare disorder characterized by the paucity of hair and progressive macular degeneration leading to blindness.

MIM

macular degeneration


Input: In contrast, CIZ-deficient mice revealed suppression in such reduction of bone mass due to unloading.

CIZ

bone mass


Input: TAF12, NFYC, and RAD54L co-located on human chromosome 1p32-35. 3 and mouse chromosome 4qD1-D3 were identified as oncogenes that are gained in tumors in both species and required for disease initiation and progression.

tumors


Input: In this study, we show, for the first time, that STIP is overexpressed in non-small cell lung cancer (NSCLC) tissues compared to adjacent normal lung tissues.

STIP

non-small cell lung cancer


Input: Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.

CLOVES syndrome

CLOVES syndrome


Input: To date, autosomal-dominant mutations have been described in the ANO5 gene for gnathodiaphyseal dysplasia (GDD, OMIM: 166260), and multiple recessive mutations have been described in the gene for muscle dystrophies (OMIM: 613319, 611307); the same amino acid (Cys) at the position 356 is mutated in GDD.

gnathodiaphyseal dysplasia

gnathodiaphyseal dysplasia


Input: In this work, we sought deeper insights into how NQO1 contributes to prostate carcinogenesis, a setting in which oxidative stress and inflammation are established contributors to disease development and progression.

inflammation


Input: CTLA-4 polymorphisms in allergy and asthma and the TH1/TH2 paradigm.

asthma


Input: TRIF (-/-) myocytes displayed a TLR4-dependent suppression of IFN-β, and pharmacological treatment of CVB3-infected TRIF (-/-) mice with murine IFN-β led to improved virus control and reduced cardiac inflammation.

TRIF

inflammation


Input: We tested the efficacy of adenovirus-mediated gene transfer of LPL as treatment of experimental hyperlipidemias associated with apolipoprotein (apoE) deficiency (apoE-/-) and low-density lipoprotein receptor (LDLr) deficiency (LDLr-/-) in mice.

LPL

adenovirus


Input: BIN1 genotypes were strongly related to atrophy of hippocampus (rs7561528: pc = 0. 011), CA1 (rs1469980: pc = 0. 029) and parahippocampus (rs72838284, pc = 0. 017) on MRI, and to glucose metabolism on FDG-PET, but not to Aβ deposition on AV45-PET imaging.

atrophy


Input: Taken together, these results indicate that downregulation of tumor suppressor miR-7 is a novel mechanism by which the inflammatory response promotes gastric tumorigenesis.

tumorigenesis


Input: ARNTL, ARNTL2, VIP and ADCYAP1 were indicated as having influence on alcohol use or abuse.

alcohol use


Input: TNFR2 may play an important role in colonic inflammation-associated alteration in the intestinal epithelium.

inflammation


Input: DPD expression levels appear to be associated with residual tumor categories and might serve as a molecular marker for complete tumor resection.

DPD

residual tumor


Input: They presented common features associated to patients affected by SMBA, such as gynecomastia, high level of CPK, muscle cramps, fasciculations, muscle wastage, and impaired swallowing.

CPK

muscle cramps


Input: We suggest that respiratory alkalosis (hypocapnia) of Leigh syndrome patients with SURF1 mutations results from compulsory hyperventilation and speculate that hypocapnia may contribute to Leigh-like brain damage in the SURF1-deficient patients as well as in other patients presenting with Leigh-like syndrome.

respiratory alkalosis


Input: The aim was to identify the functional role of endogenous IGF-I and alphaVbeta3 integrin ligands in regulating muscle cell hyperplasia in stricturing CD.

IGF-I

CD

IGF-I

CD


Input: Overall, our data confirm that SPG7 point mutations are rare causes of HSP, in both sporadic and familial forms, while underlying the puzzling and intriguing aspects of histological and biochemical consequences of paraplegin loss.

paraplegin

sporadic


Input: Human colorectal, endometrial, and gastric cancers with defective DNA mismatch repair (MMR) have microsatellite instability, a unique molecular alteration characterized by widespread frameshift mutations of repetitive DNA sequences.

MMR

microsatellite instability


Input: Because blood clotting is common after plaque rupture, we hypothesized that RANKL influenced tissue factor (TF) expression and activity to initiate the coagulation cascade.

RANKL

plaque


Input: To explore whether HO-1 has a role in cardiac remodeling response, the effect of its overexpression on angiotensin II (Ang II)-induced cardiac hypertrophy was examined.

angiotensin II

cardiac hypertrophy

angiotensin II

cardiac hypertrophy


Input: Although Pin1 is frequently overexpressed in hepatocellular carcinoma (HCC), the molecular mechanism of Pin1 in HCC has not been completely elucidated.

hepatocellular carcinoma


Input: In a subset of ROR2-negative patients with BDB, clinically defined by the additional occurrence of proximal symphalangism and carpal synostosis, we identified six different point mutations (P35A, P35S, A36P, E48K, R167G, and P187S) in the bone morphogenetic protein (BMP) antagonist NOGGIN (NOG).

proximal symphalangism


Input: Cytogenetic analysis of B cell chronic lymphoid leukemias classified according to morphologic and immunophenotypic (FAB) criteria.

FAB

lymphoid leukemias


Input: The comprehensive evaluation of gene variation, haplotype structure, and linkage disequilibrium is important in understanding the function of beta2-adrenergic receptor gene (ADRbeta2) on disease susceptibility, pulmonary function, and therapeutic responses in different ethnic groups with asthma.

pulmonary function


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

melanoma

melanoma


Input: IP (3)-sponge transgenic mice abrogated cardiac hypertrophy in response to isoproterenol and angiotensin II infusion but not pressure-overload stimulation.

angiotensin II

cardiac hypertrophy

angiotensin II

cardiac hypertrophy


Input: PD frequency was 7% in subjects without pancreatic disease, 7% in patients with alcohol-induced pancreatitis, and 5, 16, 16, and 47% in those with idiopathic, and PRSS1-, SPINK1-, and CFTR-associated pancreatitis, respectively (P < 0. 0001).

pancreatic disease


Input: Presence of high-affinity AHR enhanced thymic atrophy and liver hypertrophy in the pups.

AHR

liver

AHR

liver


Input: These results suggest that SOX2 maintains stem cell pluripotency by shuttling between the nucleus and cytoplasm in cooperation with OCT4 to prevent trophectoderm differentiation and polyploid formation in ES cells.

polyploid


Input: Identification of PAH gene mutations responsible for PAH deficiency will therefore be useful in the prediction of biochemical and clinical phenotypes in HPA patients.

PAH

PAH deficiency

PAH

PAH deficiency


Input: Furthermore, the expression of the miR-200b gene targets ZEB1/2, GATA2, and KDR was confirmed by qRT-PCR as being lower in obese patients with periodontitis versus normal weight patients, suggesting a role of miR-200b in regulation of a set of gene targets and biological pathways relevant to wound healing and angiogenesis.

periodontitis


Input: Mitotic Arrest Deficient-Like 1 (MAD1L1), whose altered expression is associated with chromosomal instability, is a checkpoint gene.

chromosomal instability


Input: Five genes were expressed at lower levels in unstable angina samples: anticoagulant protein S, cyclooxygenase (COX)-1, interleukin (IL)-7 and chemokines monocyte chemotactic protein (MCP)-1 and-2.

COX

unstable angina


Input: Considered together with recent evidence pertaining to weanling protein deficiency, these results permit the conclusion that the pIgR is a focal point of the impact exerted by metabolically diverse forms of protein-energy malnutrition on mucosal humoral immunocompetence.

pIgR

protein deficiency


Input: A human study using patients with schizophrenia demonstrated an exacerbation of polydipsia by the administration of clonidine, an ADRA2A-agonist, and a relief of polydipsia by mianserin, an ADRA2A-antagonist, suggesting the involvement of the central adrenergic system in the drinking behavior of patients with schizophrenia.

drinking behavior


Input: The presence of hypoxic regions within an expanding tumor mass leads to upregulation of pro-angiogenic factors, such as vascular endothelial growth factor (VEGF), through increased activity of the transcriptional complex HIF-1 (hypoxia-inducible factor-1).

VEGF

hypoxic


Input: Cough was likely to be due to a combination of denervation hypersensitivity of the upper airways and oesophagus, and prominent GOR.

GOR

hypersensitivity


Input: Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

sonic hedgehog

colobomatous microphthalmia


Input: Differential expression data were confirmed for 5 genes by semiquantitative RT-PCR in MCC tumors: GTF2H4, RBM12, UBE2D3, DDX17, and LZTS1.

tumors


Input: Tenofovir disoproxil fumarate (TDF) may induce renal proximal tubulopathy (rPT).

TDF

proximal tubulopathy


Input: Taken together, our data suggest that type 2 diabetes and related insulin resistance manifest decreased VLDLR with elevated serum cholesterol and triglyceride levels, and overexpression of VLDLR through a single injection of rAAV · VLDLR reversed these effects and consequentially attenuated aorta atherosclerotic plaque progression.

VLDLR

insulin resistance


Input: We investigated MLH3' s role in endometrial tumorigenesis through analysis of tumor and germ line DNA from 57 endometrial cancer patients who were at increased risk for having inherited cancer susceptibility.

MLH3' s

tumorigenesis


Input: Deletions of one of these genes, DMRT1, lead to male-to-female sex reversal and are associated with development of gonadoblastoma.

sex reversal


Input: Transfection of an siRNA directed against LARP7 (anti-LARP7 siRNA) into non-neoplastic gastric epithelial cells decreased 7sk levels by 72% relative to a control siRNA (P < 0. 01).

non-neoplastic


Input: Both drugs blocked the hypoxia-induced expression of LOX and LOXL proteins, collagen cross-linking, CD11b ⁺ BMDC recruitment, and lung metastasis in an orthotopic breast cancer model.

LOXL

lung metastasis


Input: In this study, we analyzed the complex chromosomal translocation in one case with embryonal rhabdomyosarcoma by means of spectral karyotyping (SKY) and identified a novel translocation involving chromosome band 2q35, which is the locus of PAX3 gene.

SKY

translocation


Input: We found evidence that MMP-10 may be a mediator of the number of depressive phases during BD.

BD

BD


Input: Lentivirus carrying PCDH9 cDNA restored PCDH9 expression in the U87 and U251 glioma cell lines.

glioma


Input: The results show that people with schizophrenia had significantly less PPIA and SDHA mRNA and tended to have less GUSB and B2M mRNA, suggesting that these control genes may not be good candidates for normalization.

SDHA

schizophrenia

SDHA

schizophrenia


Input: Despite the proposed link between ablation of the CHOP protein and delay of the onset of ER stress-mediated disorders including diabetes, Alzheimer Disease, and cardiac hypertrophy, the role of CHOP protein in photoreceptor cell death associated with Autosomal Dominant Retinitis Pigmentosa (ADRP) has not been investigated.

CHOP

cardiac hypertrophy


Input: In five B-CLLs and one MCL with deletion of one ATM allele, a point mutation in the remaining allele was detected, which resulted in aberrant transcript splicing, alteration, or truncation of the protein.

ATM

B-CLL

ATM

B-CLL


Input: The epithelial-mesenchymal transition (EMT) has a crucial role in normal and disease processes including tumor progression.

EMT

tumor progression


Input: Multivariate regression revealed that EGFR mutation, adenocarcinoma histology, and HER2 expression were associated with EGFR expression, whereas female sex, EGFR mutation, and EGFR expression were associated with HER2 expression.

EGFR

regression


Input: We therefore investigated the role of gene variants of tight junction protein (TJP1) which encodes another slit diaphragm-associated protein zona occludens 1 as risk factors for albuminuria in the San Antonio Family Diabetes/Gallbladder Study (SAFDGS), which consists of extended Mexican-American families with a high prevalence of type 2 diabetes.

zona occludens 1

albuminuria


Input: Polycystin-1 interacts with inositol 1, 4, 5-trisphosphate receptor to modulate intracellular Ca2 + signaling with implications for polycystic kidney disease.

polycystic kidney disease


Input: To determine whether RNA interference (RNAi) could block hypoxia-induced upregulation of vascular endothelial growth factor (VEGF) in human corneal epithelial cells in vitro and inhibit and regress injury-induced murine corneal neovascularization in vivo.

VEGF

hypoxia


Input: Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.

autosomal-dominant omodysplasia

autosomal-dominant omodysplasia


Input: Interestingly, this region only partially overlapped (approximately 5 cm) with our neuroblastoma SRO in region D1S508 to D1S244.

SRO

neuroblastoma


Input: Therefore, we examined the progression of streptozotocin (STZ)-induced diabetic nephropathy in mice deficient in MCP-1 in order to explore the role of MCP-1-mediated macrophage accumulation in the development of diabetic kidney damage.

kidney damage


Input: At the baseline of BMI, body weight, body fat, waist circumference, hip circumference, the arm skin fold, resting energy expenditure, or blood lipid and glucose profiles, there was no significant difference in participants with/without mutation of the beta (3) AR gene.

AR gene

body weight


Input: Low helicase-like transcription factor expression correlated positively with French-American-British M4/M5 subtypes (P < 0. 0001) and complex cytogenetic abnormalities (P = 0. 02 for ≥ 3 abnormalities; P = 0. 004 for ≥ 5 abnormalities) but negatively with CEBPA double mutations (P = 0. 012).

CEBPA

abnormalities


Input: In individuals who drank > 30 g/d of alcohol, the CC genotype was associated with higher IL-6 levels, elevated CCA-IMT (P = 0. 001), and increased risk of carotid plaque (OR, 3. 64; 95% CI, 1. 15 to 11. 54; P = 0. 028).

plaque


Input: VEGF was also induced in HUVEC under hypoxic conditions (P < 0. 05).

VEGF

hypoxic


Input: We provide evidence that EN2 is ectopically expressed in a subset of human breast cancer and may have a causal role in mammary tumorigenesis.

mammary tumorigenesis


Input: The development of diabetic complications is associated with increased oxidative stress which may damage DNA leading to the activation of nuclear enzyme poly (ADP-ribose) polymerase (PARP).

PARP

diabetic complications


Input: However, we found that interleukin-8 (IL8), a potent chemoattractant for neutrophils, and sputum sol phase induced these LAD1 neutrophils to migrate through an endothelial cell layer in vitro, and confirmed that this migration was CD18-independent.

sol


Input: Overexpression of hBCL-2 in bcl-2-/-mice rescues growth retardation, normalizes and protects the hematolymphoid system from gamma-radiation.

growth retardation


Input: Multiple myeloma-associated chromosomal translocation activates orphan snoRNA ACA11 to suppress oxidative stress.

chromosomal translocation


Input: Genetic variation in plasma fibrinogen and the platelet receptor GP IIIa locus has been independently associated with increased risks of ischaemic heart disease, but there have been few reports on the relationship with peripheral arterial disease.

GP IIIa

ischaemic heart disease


Input: A 28-year-old man whose estrogen resistance was caused by a disruptive mutation in the estrogen-receptor gene underwent studies of pituitary-gonadal function and bone density and received transdermal estrogen for six months.

estrogen-receptor

estrogen resistance

estrogen-receptor

estrogen resistance


Input: Two GPI-anchor proteins, CD55 and CD59, are complement regulatory proteins; their absence on the surface of PNH cells leads to complement-mediated hemolysis.

GPI

hemolysis


Input: They seem to be relatively insensitive to the deleterious effects of PTH on bone mineral state, because raised concentrations of PTH were not associated with reduced bone mass.

PTH

bone mass


Input: According to multivariate regression analysis, metabolic syndrome itself and waist circumference could be used, in addition to sex and age, as predictors of serum AGF level.

AGF

waist circumference


Input: Further, dietary TCDF inhibited the farnesoid X receptor (FXR) signaling pathway, triggered significant inflammation and host metabolic disorders as a result of activation of bacterial fermentation, and altered hepatic lipogenesis, gluconeogenesis, and glycogenolysis in an AHR-dependent manner.

AHR

inflammation

AHR

inflammation


Input: We raise the possibility that genetically-driven variation in COMT may interact with childhood trauma to contribute to the risk of developing schizotypal personality traits.

COMT

personality traits


Input: Results of the present studies demonstrate a significant reduction in the B (max) value of [3H] cyclic AMP binding to the regulatory subunit of PKA in the supernatant fraction of fibroblasts from patients with major depression with no change in the K (d) values.

AMP

major depression

AMP

major depression


Input: Screening of clock gene polymorphisms demonstrates association of a PER3 polymorphism with morningness-eveningness preference and circadian rhythm sleep disorder.

circadian rhythm sleep disorder


Input: In our results, high Cdc20 and securin expression was associated with aneuploid DNA content.

securin

aneuploid


Input: We have identified 11 mutational changes in the PAX3 gene in patients with type 1 Waardenburg syndrome (WS1) including three in the paired domain, six within or immediately adjacent to the homeodomain and two previously described polymorphic variants in exons 2 and 6.


Input: Taken together, these studies provide the first data indicating that the ChlR1 helicase is essential for proper binding of the cohesin complex to both the centromere and the chromosome arms, and indicate that ChlR1 is essential for embryonic development and the prevention of aneuploidy in mammals.

aneuploidy


Input: This is the first reported chromosomal translocation where AML1 is rearranged in childhood T-cell ALL.

chromosomal translocation


Input: A middle-aged woman with recent-onset painful swollen fingers and widespread periostitis, elevated serum alkaline phosphatase (ALP) activity and erythrocyte sedimentation rate, and accelerated skeletal turnover was found not to have mutations in the gene sequences for exon 1 of receptor activator of nuclear factor-kappaB (RANK), osteoprotegerin (OPG), or sequestosome-1.

RANK

periostitis


Input: The neuropeptide Y (NPY) is a neuropeptide with a role in the regulation of satiety and energy balance of body weight, insulin release, cardiovascular and central endocrine systems.

NPY

body weight


Input: Ten ovarian cancer cell lines were analyzed by methylation-specific PCR, and seven (GPR150, LOC222171, PRTFDC1, LOC339210, ITGA8, C9orf64 and HOXD11) of the 33 CGIs were methylated in one or more of the cell lines.

ovarian cancer

ovarian cancer


Input: Treatment of intractable pain with NP2 was well tolerated.

intractable pain


Input: At 4 weeks of age, both TGF-alpha single transgenic and TGF-alpha/Bcl-2 double transgenic mice had elevated hepatocyte proliferation and increased liver: body weight ratios.

body weight


Input: The MLL-AF6 fusion transcript and the loss of one p53 allele were proven by chromosome painting, FISH and RT-PCR analysis in both SHI-1 cells and the primary leukemia cells.

FISH

leukemia


Input: In addition to arterial pressure and insulin sensitivity (euglycaemic hyperinsulinaemic clamp), we measured the plasma concentration of leptin, insulin, cholesterol, triglycerides, free fatty acids, fibrinogen and uric acid in 10 to 12 week old eNOS-/-and wild type mice.

eNOS

insulin sensitivity

eNOS

insulin sensitivity


Input: In this study, we provide evidence that the CNR1 gene may be associated with antipsychotic-induced weight gain in chronic schizophrenia patients.

CNR1 gene

chronic schizophrenia


Input: Interestingly, NLC1-C, also known as long intergenic non-protein-coding RNA162 (LINC00162), was down-regulated in the cytoplasm and accumulated in the nucleus of spermatogonia and primary spermatocytes in the testes of infertile men with mixed patterns of MA compared with normal control.

infertile


Input: To evaluate the safety and efficacy of a plasmid (VM202) containing two human hepatocyte growth factor isoforms given by intramuscular injections in patients with painful diabetic neuropathy.

hepatocyte growth factor

painful diabetic neuropathy

hepatocyte growth factor

painful diabetic neuropathy


Input: Wild-type mice undergoing pressure overload demonstrated extensive interstitial fibrosis that was prevented by HO-1 overexpression, yet HO-1 transgenic mice had reduced capillary density, contractile reserve, and elevated end-diastolic pressure.

diastolic pressure


Input: Targeted siRNA ablated HIF-1alpha and/or HIF-2alpha expression in MG-63 cells and reduced hypoxic secretion of VEGF.

VEGF

hypoxic


Input: Two novel stem cell factor (SCF) dependent human mast cell lines, designated LAD 1 and 2, were established from bone marrow aspirates from a patient with mast cell sarcoma/leukemia.

SCF

leukemia


Input: 65 obese patients undergoing gastric banding surgery were genotyped for LEP + 19A--> G, LEP-2548G--> C, IL6-174G--> C, APM1-11377C--> G and PM1-11391G--> A common SNPs.

obese


Input: We observed that metformin and pioglitazone attenuated ovarian chemerin expression and improved insulin resistance and abnormal steroid production in PCO rats.

chemerin

insulin resistance


Input: Laser-assisted microdissection was used to assess a genotype/phenotype correlation in single liver cells from HCC and from non-neoplastic hepatocytes.

HCC

non-neoplastic


Input: The evidence suggests that ANKRD7 and CYTL1 genes may play an important role in the variance in AD risk.

AD

AD


Input: Mutations in the GHRH receptor (GHRHR) gene (GHRHR) cause autosomal recessive isolated GH deficiency (IGHD), and are usually associated with anterior pituitary hypoplasia (APH) (defined as pituitary height more than 2 SDS below normal).

APH

height


Input: A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P & lt; 1 x 10 (-3)) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3.

SLE

SLE


Input: By in situ hybridization, KCNS3 mRNA levels were 23% lower in schizophrenia subjects.

schizophrenia

schizophrenia


Input: In available genome-wide association results from the Psychiatric Genomics Consortium we found that SNPs in CTNND2 collectively showed an increased signal for schizophrenia (P & #8201; & lt; & #8201; 1e (-5)) and major depressive disorder (P & #8201; & lt; & #8201; 1e (-5)), but not for bipolar disorder.

major depressive disorder

major depressive disorder


Input: The data also identified a myriad of JAK2 rearrangements, including a novel JAK2-NF-E2 interaction, JAK2 translocation to chromosomes 3, 4, 12, 14, and 21 and detection of the previously described rare TEL/ETV6-JAK2 translocation.

translocation


Input: This is the first report of the characterization of SP-B-resistant cells and of the effect of overexpressed p21waf1/cip1 on the resistance or susceptibility of human leukemia cells to SP-B.

SP-B

leukemia


Input: The study included 183 consecutive Chinese stroke patients after loading with clopidogrel 300 mg. Platelet function was assessed by adenosine diphosphate-induced (ADP 20 micromol/L) platelet aggregation and by light transmittance aggregometry (LTA) after seven 75-mg maintenance doses of clopidogrel before discharge.

ADP

stroke


Input: MT1-MMP silencing by an shRNA-armed glioma-targeted conditionally replicative adenovirus (CRAd) improves its anti-glioma efficacy in vitro and in vivo.

adenovirus


Input: Elevated systolic blood pressure (SBP) was associated with HLA-DRB1 * 09 and TNFa 117 alleles.

systolic blood pressure


Input: However, overexpression of apolipoprotein A-I in animals has been shown to reduce progression and even induce regression of atherosclerosis, indicating that apolipoprotein A-I is directly protective against atherosclerosis.

apolipoprotein A-I

regression


Input: However, the effect of elevated expression of CUL4A on hypoxia-reoxygenation injury is currently unclear.

hypoxia


Input: This is the first mutation in Dubin-Johnson syndrome shown to cause deficient MRP2 maturation and impaired sorting of this glycoprotein to the apical membrane.

Dubin-Johnson syndrome

Dubin-Johnson syndrome


Input: While miR-100 downregulates E-cadherin by targeting SMARCA5, a regulator of CDH1 promoter methylation, this miRNA suppresses tumorigenesis, cell movement and invasion in vitro and in vivo through direct targeting of HOXA1, a gene that is both oncogenic and pro-invasive, leading to repression of multiple HOXA1 downstream targets involved in oncogenesis and invasiveness.

tumorigenesis


Input: We carried out a study of adenosine deaminase (ADA) and MN blood group genetic polymorphisms in relation to past malarial morbidity in Sardinia and in relation to susceptibility to allergic asthma (a Th2 disorder) and Crohn' s disease (a Th1 disorder) in the population of Rome.

allergic asthma


Input: A small percentage of GL261 cells were identified as CXCR3 (+), which was similar to the expression of CXCR3 in several grade IV human glioma cell lines (A172, T98G, U87, U118 and U138).

glioma


Input: Depletion of FUS/TLS from the adult nervous system altered the levels or splicing of > 950 mRNAs, most of which are distinct from RNAs dependent on TDP-43.

TLS

nervous system


Input: When the period of alcohol consumption increased, the positive rate of expression of hypoxia-inducible factor-1 alpha (HIF-1alpha) mRNA was more significantly elevated in the liver of the alcohol group than in the control group (P < or = 0. 05).

alcohol consumption


Input: This preliminary finding does not support the assumption that the presence of BRCA1 and BRCA2 mutations in some infertility patients treated by fertility drugs could explain the subsequent development of epithelial ovarian cancer in these women.

infertility


Input: The aim of this study was to determine the correlation between TS-, TP-, and DPD-gene expression and the response to 5-FU-based long-term pre-operative chemoradiotherapy assessed by histopathological tumour regression.

DPD

regression


Input: Approximately 15% of small intestinal adenocarcinomas show inactivation of DNA-mismatch repair (MMR) and display high-level microsatellite instability (MSI-H).

MMR

microsatellite instability


Input: Proliferation of GNG2-overexpressed SK-Mel28 human malignant melanoma cells was suppressed with decreased c-SRC and AKT activities and increased p21 (Cip/WAF1) expression level in vitro.

malignant melanoma


Input: In this study, we examined the sequential expression of MMP-2, MMP-9 and TIMP-1 in a rat model of pulmonary fibrosis induced by PQ.

pulmonary fibrosis

pulmonary fibrosis


Input: This study confirms that the dysferlin gene is mutated in MM and LGMD2B and extends understanding of the timing of onset of the disease.

dysferlin

MM

dysferlin

MM


Input: We conclude that carriers of factor V Leiden who are family members of probands with this mutation have a statistically significant and clinically important risk of late miscarriage or stillbirth.

factor V Leiden

stillbirth


Input: Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.

beta-hexosaminidase beta-subunit

Sandhoff disease

beta-hexosaminidase beta-subunit

Sandhoff disease


Input: TRPV1, SCN9A, and TAC1 were elevated in endometriosis lesions (P <. 05).

endometriosis


Input: However, little is known about changes in BDNF in post-stroke depression (PSD).

PSD

stroke


Input: At the molecular level, the translocation process arises from the illegitimate rearrangement between the BCL-2 proto-oncogene and the immunoglobulin heavy chain (IgH) locus.

translocation


Input: Proenkephalin mediates the enduring effects of adolescent cannabis exposure associated with adult opiate vulnerability.

Proenkephalin

cannabis

Proenkephalin

cannabis


Input: This is the first example of RUNX1 chimera in an opposing direction generated by chromosomal translocation in leukemia.

chromosomal translocation


Input: To widen the ethnic and age coverage of the FTO studies, we investigated the effects of FTO gene variants on being overweight and related phenotypes in Korean children and adult with a consideration of lifestyle factors.

FTO gene

overweight


Input: BCL2/IgH translocation was analyzed in paraffin-embedded tissues from follicular lymphoma patients by using polymerase chain reaction (PCR) analysis of the major breakpoint region (MBR), the intermediate cluster region (ICR), and the minor cluster region.

translocation


Input: Heterozygosity for GHRHR mutation causes changes in body composition and possibly an increase in insulin sensitivity, but its effects on bone quality are still unknown.

GHRHR

insulin sensitivity


Input: In addition, induction of oxidative stress with antimycin A inhibited Pax-3 expression and increased neural tube defects.

neural tube defects

neural tube defects


Input: A strong correlation between the percent of stenosis of left anterior descending coronary artery and serum cathepsin L levels in patients with stenosis (R = 0. 542, p < 0. 0001), also suggests involvement of cathepsin L in these vascular diseases.

cathepsin L

stenosis


Input: The aim of this study was to investigate the localization of AQP1 in the mouse heart and to determine the effects of ischemia and hypoxia on its expression.

ischemia


Input: Methylation status and overexpression of COX-2 in Tunisian patients with ductal invasive breast carcinoma.

ductal invasive breast carcinoma

ductal invasive breast carcinoma


Input: MDL12, 330A, an adenylate cyclase inhibitor that lowers the levels of cAMP, increased expression of fibrosis-related proteins (mammalian target of rapamycin, SMA, plasminogen activator inhibitor type 1, and type I collagen), while the cAMP activator forskolin attenuated transforming growth factor beta-elicited fibrosing end points in the cardiac fibroblasts.

mammalian target of rapamycin

fibrosis


Input: To investigate double strand break (DSB) repair and signaling in human glioma cells, we stably transfected human U87 (ATM (+), p53 (+)) glioma cells with a plasmid having a single I-SceI site within an inactive green fluorescent protein (GFP) expression cassette, allowing for the detection of homologous recombination repair (HRR) by GFP expression.

glioma


Input: Our results show that VEGF expression varies widely between cell lines and that capacity to respond to hypoxia is also cell specific, relating mostly to the hypoxic sensing of the cell and the signal transduction mechanism.

VEGF

hypoxic


Input: Further studies showed that, in Epo-R/TEPC cells, Epo neither induces the synthesis of erythroid-specific mRNA nor modifies the synthesis of gamma 1 lg heavy chain, suggesting that ectopic expression of the Epo-R in plasmacytoma cells does not modify their differentiative potential.

heavy chain

plasmacytoma


Input: Consistent with molecular modeling predictions of calcium binding, CIB2 significantly decreased the ATP-induced calcium responses in heterologous cells, whereas mutations in deafness DFNB48 altered CIB2 effects on calcium responses.


Input: Our findings confirm that mutations in ATP2A2 are associated with DD.

DD

DD


Input: To evaluate the relevance of breast cancer subtypes for magnetic resonance imaging (MRI) markers for monitoring of therapy response during neoadjuvant chemotherapy (NAC).

MRI

breast cancer


Input: It was observed that down regulation of Hsp60 in virally infected cells resulted into decrease in viral RNA copy number, plaque forming units and intracellular viral load.

viral load


Input: Whereas no difference in postprandial response were observed on classical markers of endothelial function, we did observe differences between consumption of a HF/HE and an average breakfast meal on blood pressure and IL-8 in young healthy volunteers.

blood pressure


Input: In a case-control study, we identified 11 polymorphisms in the 5' flanking region of CYP2E1 in 228 schizophrenia patients and 384 healthy controls of Chinese Han origin.

schizophrenia

schizophrenia


Input: Down-regulation of AKT1 and AKT2, but not AKT3, induced activation of cell surface β1-integrins and enhanced adhesion, migration, and invasion.

adhesion


Input: Flow-cytometry analysis of TIL subset distribution revealed that the majority was composed of T lymphocytes, and double labeling with alpha-CD3 and adhesion/activation markers revealed T cell subsets expressing CD49a, CD49b, CD54, and CD15, each of which was almost absent in autologous T peripheral blood lymphocytes (T-PBL).

adhesion


Input: Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS).

Ghosal hematodiaphyseal dysplasia

Ghosal hematodiaphyseal dysplasia


Input: We describe a newborn with clinical signs of severe hypothyroidism and combined pituitary hormone deficiency due to a new mutation in the PIT-1 gene.

pituitary hormone deficiency


Input: Affected members in Family D (KCNA1 G1210A) exhibit attacks typical of EA1.


Input: A whole genome expression analysis of peripheral blood mononuclear cells yielded 12 protein-coding genes (ADM, APBB3, CD160, CFD, CITED2, CTSZ, IER5, NFKBIZ, NR4A2, NUCKS1, SERTAD1, TNF) that were differentially expressed between 29 unmedicated depressed patients with a mood disorder (8 bipolar disorder, 21 major depressive disorder) and 24 healthy controls (HCs).

mood disorder

mood disorder


Input: In contrast, reactive T lymphocytes from patients with non-neoplastic T-cell expansions and in vitro activated CD3 + or CD4 + normal T cells were found to coexpress CD40L and CD26.

non-neoplastic


Input: Overexpression of AFT-3 also enhanced caspase-3 activity in both HOSE and OVCA cells, whereas ectopic expression of caveolin-1 and DLC-1 only activated this enzyme in OCa cells.

OCa

OCa


Input: Further molecular dissection of the ADRA1A gene warrants better understanding on weight gain mechanisms in schizophrenia.

ADRA1A gene

weight gain


Input: We found that BRD4 is critical for colon cancer proliferation, and its knockdown led to differentiation effects in vivo.

colon cancer

colon cancer


Input: The aims of this study were to determine the expression of miRNAs that bind to 3? UTR of HOXB13 and IL17BR in ER (+) BC patients and asess the effects of these miRNAs on recurrence/metastasis.

UTR

metastasis


Input: IL-20 transcripts increased in hypoxic monocytes and monocytes treated with oxidized low-density lipoprotein.

hypoxic


Input: We conclude that common genetic variation in ROCK2 is unlikely to make a major contribution to the risk of pre-eclampsia, but cannot exclude the possibility of having missed non-coding functional variants or rare coding variants.

pre-eclampsia


Input: Decreased serum estradiol levels and altered PRL secretion after TRH administration in infertile patients with minimal/mild endometriosis are related to ovulatory dysfunction and infertility in this group of patients without tubal occlusion.

TRH

mild


Input: Our objective is to detect and study microsatellite instability (MSI) and mismatch repair (MMR) gene germline mutation carriers among a Chinese population with colorectal cancer.

MMR

microsatellite instability


Input: More recently, the usage of single nucleotide polymorphism arrays provided information of copy number neutral loss of heterozygosity, thus suggesting the occurrence of somatic uniparental disomy (UPD) and uniparental polysomy (UPP) events.

UPP

uniparental disomy


Input: To test the association of ITPA polymorphisms rs1127354 and rs7270101 with hemoglobin (Hb) decline, need for RBV dose reduction (RBV DR), erythropoietin (EPO) support and blood transfusions during the first 12 weeks of TVR triple therapy.

EPO

hemoglobin


Input: NCX1 full-length protein and a 75-kDa NCX1 fragment along with calpain were up-regulated in aortic stenosis patients and rats with heart failure.

aortic stenosis


Input: In a sixth family with none of the features of Albright' s osteodystrophy, N protein deficiency did not correlate with urinary cAMP responsiveness to PTH.

Albright' s osteodystrophy

protein deficiency


Input: Hyperekplexia (MIM #149400) is a rare neurological disorder characterized by an exaggerated startle response, infantile hypertonia and hyperreflexia without spasticity, a hesitant gait that usually improves by 3 years of age, and nocturnal myoclonus.

MIM

neurological disorder


Input: The PPARγ ligand rosiglitazone attenuates hypoxia-induced endothelin signaling in vitro and in vivo.

PPARγ

hypoxia


Input: In addition, the phenotypic features of patients with this CNV are consistent with a contiguous gene syndrome that extends beyond RCAD, which is caused by HNF1B mutations only.

contiguous gene syndrome


Input: Here we demonstrate that conditional inactivation of the Kif3a subunit of the kinesin-2 intraflagellar transport motor in mesenchymal skeletal progenitor cells results in severe patterning defects in the craniofacial area, the formation of split sternum and the development of polydactyly.

polydactyly

polydactyly


Input: Here we show differential protein expression patterns in surviving human malignant U87-MG glioma cells under clinically relevant chemo/radiotherapy.

glioma


Input: MIR34A inhibition of HMGB1 leads to a decrease in autophagy under starvation conditions or chemotherapy treatment.

starvation


Input: Taken together, our results show increased H (2) O (2) levels and cellular redox imbalance associated to a higher p-ERK and AIF immunocontent, which would contribute to a maladaptive hypertrophy phenotype.

ERK

hypertrophy


Input: Furthermore, the activity of a luciferase reporter containing five copies of vascular endothelial growth factor (VEGF) promoter hypoxia-responsive element (5 × HRE) and the amount of secreted VEGF, were diminished in RUNX3-expressing but increased in RUNX3-knockdown cells.

VEGF

hypoxia


Input: Low-HLJ1-expressing highly invasive CL1-5 lung adenocarcinoma cells were treated with various concentrations of DMSO.

lung adenocarcinoma


Input: In a multivariable regression model, CYP2C9, VKORC1 genotypes and age explained 55% of acenocoumarol dosing variability.

regression


Input: This elevation was clearly related to the presence of intestinal inflammation as it was less frequently observed in patients in remission (P = 0. 003 vs. active UC) whereas effective treatment resulted in disappearance or significant decrease of serum DcR3 (P = 0. 006 vs. pre-treatment).

inflammation


Input: We provide additional evidence that, truncating and frameshifting mutations in the ASXL3 gene are the cause of a newly recognized disorder characterized by severe global developmental delay, short stature, microcephaly, and craniofacial anomalies.

ASXL3 gene

short stature


Input: Thus, targeting the angiocrine FGF4-FGFR1/Jag1-Notch2 loop inhibits LC aggressiveness and enhances chemosensitivity.

aggressiveness


Input: Two genes, ARX (X-LAG; Partington syndrome) and MECP2 (Rett syndrome in females; mild MR with spastic diplegia/psychotic problems in males) are associated with various phenotypes, according to the mutation involved.

LAG

psychotic


Input: Thrombospondin-1 expression correlates with angiogenesis in experimental cirrhosis.

cirrhosis

cirrhosis


Input: The objective of this study was to investigate the association between 61 SNPs in eight CHRN genes (CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2, CHRNB3, CHRNB4) and dizziness at first inhalation.

inhalation


Input: A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.

CYLD

Brooke-Spiegler syndrome

CYLD

Brooke-Spiegler syndrome


Input: Estimated higher ratios of IFN-gamma/IL-10 and IFN-gamma/IL-12 were also observed in the symptomatic children while the asymptomatic controls had higher IL-12/IL-10 ratio.

asymptomatic


Input: Male and female wild-type, NPY (NPY (-/-)), PYY (PYY (-/-)) and NPY (-/-); PYY (-/-) double knockout mice were studied in the absence and presence of mild colitis induced by ingestion of dextran sulphate sodium (2%) in drinking water.

PYY

colitis


Input: This study reports an association between the PNPLA3-I148M polymorphism and insulin resistance and NAFLD in a normoglycaemic population.

insulin resistance


Input: ], solute carrier family 1, member 6 [SLC1A6], F-box protein 7 [FBX07] and vacuole 14 protein homolog [VAC14]) distinguished most classes of fatigued subjects from healthy subjects, whereas others (patched homolog 2 [PTCH2] and T-cell leukemia/lymphoma [TCL1A]) differentiated specific fatigue classes.

fatigue


Input: Here we showed that miR-221/222 inhibited cell apoptosis by targeting pro-apoptotic gene PUMA in human glioma cells.

PUMA

glioma


Input: Here, we investigated the expression and DNA methylation of FBP1 in primary HCC and colon tumor.

colon tumor

colon tumor


Input: The present study provides support for the existence of a neurocircuitry that connects changes in VGLUT2-mediated neurotransmission to alterations in the dopaminergic system with schizophrenia-like behavioral deficits as a major outcome.

schizophrenia

schizophrenia


Input: Despite the technological advantage of fluorescence in-situ hybridization on tissue microarray, which allows refining regions of amplification, we were not able to recognize any of the MYBL2, ZNF217, CYP24 and STK6 genes as a particular relevant gene for melanoma tumorigenesis.

melanoma


Input: Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.

facial dysmorphism, intellectual disability, and primordial dwarfism

facial dysmorphism, intellectual disability, and primordial dwarfism


Input: A lack of K-Ras & lt; sup & gt; G12D & lt;/sup & gt;-induced premature senescence in caveolin-1-null mice results in the formation of more abundant lung tumors.

lung tumors

lung tumors


Input: Possible explanations for this discrepancy include regulatory defects in the E-cadherin promoter, abnormalities at the translation or protein processing levels and mutations in other parts of the gene that were not investigated by the cDNA analysis (e. g.

E-cadherin

abnormalities


Input: Northern analysis showed that the degree of TGF-beta1,-beta2,-beta3 mRNA expression varied considerably in melanoma cells, whereas TGF-beta expression was very low in melanocytes.

melanoma


Input: Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of ketone body and isoleucine catabolisms.

Mitochondrial acetoacetyl-CoA thiolase

T2) deficiency

Mitochondrial acetoacetyl-CoA thiolase

T2) deficiency


Input: Chromosomal abnormalities commonly found using conventional cytogenetics and FISH are del (11) (q22-23), trisomy 12, del (13) (q14), and del (17) (p13).

trisomy 12


Input: Here we found that in melanoma cells ET-1, ET-2, and ET-3 through ET (B) R, enhance the expression and activity of HIF-1alpha and HIF-2alpha that in turn regulate the expression of vascular endothelial growth factor (VEGF) in response to ETs or hypoxia.

VEGF

hypoxia


Input: This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in K6a), confirming that laryngeal obstruction can occur in PC-1.

pachyonychia congenita


Input: Short stature homeobox-containing gene duplication on the der (X) chromosome in a female with 45, X/46, X, der (X), gonadal dysgenesis, and tall stature.

Short stature homeobox

tall stature


Input: Hexarelin suppressed the formation of atherosclerotic plaques and neointima, partially reversed serum HDL-c/LDL-c ratio and increased the levels of serum NO and aortic mRNAs of eNOS, GHSR and CD36 in As rats.

neointima


Input: For example, juvenile idiopathic arthritis (JIA) is a TH1 disease, and bronchial asthma is a TH2 disease.

bronchial asthma


Input: Detection of the ETV6-NTRK3 chimeric RNA of infantile fibrosarcoma/cellular congenital mesoblastic nephroma in paraffin-embedded tissue: application to challenging pediatric renal stromal tumors.

cellular congenital mesoblastic nephroma


Input: Myocardin-dependent hypertrophy can also be partially repressed by histone deacetylase 5, a transcriptional repressor of myocardin.

histone deacetylase 5

hypertrophy


Input: Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the CB1 receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension.

hypotension

hypotension


Input: Top SNPs affecting glucose metabolism variables were as follows: fasting glucose, rs26125 (PPARGC1B); fasting insulin, rs4759277 (LRP1); C-peptide, rs4759277 (LRP1); homeostasis assessment of insulin resistance, rs4759277 (LRP1); quantitative insulin sensitivity check index, rs184003 (AGER); sensitivity index, rs7301876 (ABCC9), acute insulin response to glucose, rs290481 (TCF7L2); and disposition index, rs12691 (CEBPA).

insulin resistance


Input: This translocation juxtaposes the BCL2 oncogene at 18q21 with the IGH @at 14q32, and leads to overexpression of BCL2 protein which protects the cells from apoptosis.

translocation


Input: Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD.

Moyamoya disease

Moyamoya disease


Input: Epithelial-mesenchymal transition (EMT) has an established role in promoting tumor progression and the acquisition of therapeutic resistance.

EMT

tumor progression


Input: The patient described here presented with aggressive high-grade lymphocytic leukemia, FAB subtype L2 (ALL-L2), and three reciprocal translocations, t (14; 18) (q32; q21), t (8; 14) (q24. 1; q32), and t (1; 2) (q22-23; p13).

FAB

lymphocytic leukemia


Input: Incubation of isolated pancreatic acini with purified S100A8/A9-heterodimers resulted in a rapid dissociation of acinar cell-cell contacts which was highly calcium-dependent.

dissociation


Input: Likewise, the induction of iNOS protein was observed in damaged proximal tubule epithelial cells of rats with HgCl2-induced ARF.

iNOS

ARF

iNOS

ARF


Input: AML1/MDS1/EVI1 (AME) is a chimeric transcription factor produced by the (3; 21) (q26; q22) translocation.

translocation


Input: Everolimus for women with trastuzumab-resistant, HER2-positive, advanced breast cancer (BOLERO-3): a randomised, double-blind, placebo-controlled phase 3 trial.

blind


Input: Animal studies have illustrated the importance of the expression in adipose tissue of the leptin receptor (OB-R), and of SOCS3 an inhibitor of the leptin signaling pathway, in body weight regulation.

leptin receptor

body weight


Input: Orbital imaging in CFEOM1 due to various amino acid substitutions in the kinesin KIF21A demonstrates consistent abnormalities of motor and sensory innervation in the orbit.

abnormalities


Input: Task2 activation by reactive oxygen species generated during hypoxia could silence RTN neurons, thus contributing to respiratory depression.

depression


Input: When leprosy types were divided, the allele frequency of TNF-308A was significantly increased in multibacillary leprosy compared to the normal controls (p = 0. 04, OR = 2. 93).

TNF

multibacillary leprosy


Input: We describe a novel GLMN mutation in an Italian family with GVM in which some members present with the less commonly observed phenotype of solitary lesions.

GLMN

GVM

GLMN

GVM


Input: Thus, in progressed tumors, areas of TGF-beta1 activation and hypoxia may overlap and hence cooperate to induce VEGF expression and angiogenesis.

VEGF

hypoxia


Input: Interestingly, loss of Gfi-1 mimics SCA1 phenotypes in Purkinje cells.


Input: The chromosomal translocation t (3; 21) (q26; q22), which is found in blastic crisis in chronic myelogenous leukemias and myelodysplastic syndrome-derived leukemias, produces AML1/Evi-1 chimeric transcription factor and is thought to play important roles in acute leukemic transformation of hemopoietic stem cells.

chromosomal translocation


Input: To examine whether polymorphisms within the ESR1, FSHR, ESR2, CYP19A1, and NRIP1 genes are susceptibility factors for human male idiopathic infertility and to test the joint effects of these genes on male reproductive function.

infertility


Input: Altogether, our results demonstrate, for the first time, the involvement of angiogenesis in ALK + ALCL and strongly suggest an important role for hypoxia-miR-16 in regulating VEGF translation.

VEGF

hypoxia


Input: However, after 6 hours of hypoxic exposure, EPCs from SSc patients exhibited lower induced expression of VEGFR-1 at the messenger RNA and protein levels, but similar VEGF and VEGFR-2 expression, compared with HUVECs or EPCs from healthy controls.

VEGF

hypoxic


Input: Our results suggest that induction of GADD45A expression might play a role in mediating the apoptotic response of ovarian cancer cells to the synthetic retinoid CD437.

ovarian cancer

ovarian cancer


Input: We propose that KCNJ5 is a second gene causing Andersen-Tawil syndrome.

Andersen-Tawil syndrome

Andersen-Tawil syndrome


Input: The results of the TRH test and the DST point to similar endocrinological patterns in alcoholics as in depressive patients and thus support the hypothesis of a link between alcoholism and depression.

TRH

depression

TRH

depression


Input: Localization of TSP-1, TGF-beta1,-beta2, and-beta3 was examined immunohistochemically in surgically resected glioma tissues, including 11 glioblastomas, six anaplastic astrocytomas, and eight astrocytomas.

astrocytomas


Input: Expression of GAD65 and GAD67 mRNA in the DLPFC and in the occipital cortex was significantly elevated in patients with schizophrenia, whereas the expression of the corresponding proteins and GAT-1 mRNA was unchanged.

GAT

schizophrenia


Input: We assessed the expression of apoptosis genes (GSK3-B, AKT-1, Bcl-2), inflammatory cytokines (TNFalpha, TNF-RI, TNF-RII, IL-6, IL-6R), anti-inflammatory IL-10, CRP and alphaFP by reverse transcription-polymerase chain reaction (RT-PCR) in 33 HCC, 25 chronic hepatitis and 16 asymptomatic HCV carrier positive for HCV subjects.

asymptomatic


Input: Similar enhancement of VEGF expression by miR-181a was found during hypoxia.

VEGF

hypoxia


Input: The cellular retinoic acid-binding protein II (CRABP-II), together with nuclear receptors such as the retinoid X receptor (RXR) and retinoic acid receptor (RAR), is involved in the transcriptional regulation of genes that control lipid metabolism via the retinoid signaling pathway and, as such, may be associated with disorders of lipid metabolism.

RAR

disorders of lipid metabolism


Input: To determine changes in expression and localization of TJ proteins during intestinal-barrier recovery, we induced intestinal ischemia-reperfusion injury in rats, measured mucosa-to-blood permeability of fluorescein isothiocyanate-dextran-4 kDa, and compared it with spatiotemporal changes of ZO-1, occludin, and claudin-1,-2,-3,-4, and-5 by immunoconfocal microscopy.

intestinal ischemia


Input: Both mRNA and protein levels of HIF-1alpha and VEGF were upregulated under hypoxic conditions.

VEGF

hypoxic


Input: GRK2 mRNA and protein expression were evaluated in the lymphocytes of AD patients with mild or moderate/severe cognitive impairment and in age-matched healthy subjects.

mild


Input: Whilst follistatin expression is unchanged, FLRG is down-regulated in endometrial carcinoma.

FLRG

endometrial carcinoma


Input: The UHR + T group showed more social anhedonia and withdrawal, more bizarre thinking and a lower GAF score at baseline than the UHR + NT group.

GAF

social anhedonia


Input: Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37.

syndromic diarrhea

syndromic diarrhea


Input: HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

renal magnesium wasting

renal magnesium wasting


Input: Heterozygous cells with known deleterious BRCA1 mutations (185delAG, C61G and R71G) demonstrated consistent phenotypes in radiation sensitivity and genomic instability assays, but showed variability in other assays.

genomic instability


Input: High CXCR4 and CCR4 gene expression levels were detected in the giant papillae of all (CXCR4) and four out of five (CCR4) patients.

giant


Input: Aging and age-associated degenerative diseases, such as AMD, are intimately associated with decreased levels of tissue oxygenation and hypoxia that may induce accumulation of detrimental RPE-associated deposits, inflammation and neovascularization processes in retina.

RPE

hypoxia


Input: ATP1A1 and Dear are candidate genes for 2 closely linked rat chromosome-2 blood pressure quantitative trait loci.

blood pressure


Input: Tumors arise initially as avascular masses in which central hypoxia induces expression of vascular endothelial growth factor-A (VEGF-A) and subsequently tumor vascularization.

VEGF-A

hypoxia


Input: Deguelin decreased expression of HIF-1alpha protein and its target genes, such as VEGF, in a subset of cancer cell lines, including H1299 lung cancer cells, and vascular endothelial cells in normoxic and hypoxic conditions.

VEGF

hypoxic


Input: We hypothesized that urocortin 3 (UCN3) and corticotropin-releasing hormone receptor 2 (CRHR2) are associated with IMCL and subcutaneous fat depth (SFD), because the corticotropin-releasing hormone family of peptides are capable of strong anorectic and thermogenic effects.

hormone receptor

anorectic


Input: Ancient origin of the CTH alelle carrying the c. 200C & gt; T (p. T67I) variant in patients with cystathioninuria.

CTH

cystathioninuria

CTH

cystathioninuria


Input: DHPR deficiency, caused by mutations in the QDPR gene, results in hyperphenylalaninemia and deficiency of various neurotransmitters in the central nervous system, with severe neurological symptoms as a consequence.

QDPR

DHPR deficiency

QDPR

DHPR deficiency


Input: Stable expression of truncated, hyperactive ASXL1-BAP1 complexes in a haematopoietic precursor cell line results in global erasure of H2AK119Ub, striking depletion of H3K27me3, selective upregulation of a subset of genes whose promoters are marked by both H2AK119Ub and H3K4me3, and spontaneous differentiation to the mast cell lineage.

hyperactive


Input: We evaluated vascular inflammation in wild-type and MRP-14-deficient (MRP-14 (-/-)) mice that lack MRP-8/14 complexes with experimental arterial injury, vasculitis, or atherosclerosis.

MRP

vasculitis


Input: Additional data suggest epigenetic molecular mechanisms in tumor specific regulation of LOXL2 expression that could be explored as a molecular target in the prevention of breast cancer progression.

breast cancer

breast cancer


Input: Reassuringly, the autozygomes of all probands overlap on the same chr16q23. 1 locus, further supporting the positional mapping of MMCAT to ADAMTS18.

MMCAT

MMCAT


Input: The risk allele in SRR showed a trend toward a reduction of birthweight (P = 0. 085).

SRR

birthweight


Input: Taken together, our results support that PD2 is overexpressed in the ducts of PDAC tissues, and results in tumorigenesis and metastasis via upregulation of oncogenes such as c-Myc and cyclin hence D1 implicating PD2 upregulation in pancreatic oncogenesis with targeted therapeutic potential.

tumorigenesis


Input: A novel threonine--& gt; proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens.

keratin 2e

ichthyosis bullosa of Siemens

keratin 2e

ichthyosis bullosa of Siemens


Input: Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.

dystonia 6

dystonia 6


Input: The effect of EIF4G1 on cell invasion and tumorigenesis were investigated.

tumorigenesis


Input: To assess the validity of different objective and subjective parameters [soluble E-selectin (sE-selectin), soluble vascular cell adhesion molecule-1 (sVCAM-1), eosinophil cationic protein (ECP), urinary nitrate excretion (reflecting endogenous nitric oxide formation) and the patients' impressions of pruritus, sleeplessness and skin status] as markers of AD disease activity.

ECP

pruritus


Input: Runx1-expressing SCs, but not other cells that ectopically upregulate Runx1 by injury and inflammation, are at the skin tumour origin.

inflammation


Input: The t (12; 21) translocation, which generates the TEL-AML1 (ETV6-RUNX1) fusion gene, is the most common structural chromosome change in childhood cancer and is exclusively associated with the common B cell precursor subset of acute lymphoblastic leukemia (ALL).

translocation


Input: The late Victor McKusick considered the discovery of the KOP translocation, as he determined personally in Montana, one of the major transforming events in human genetics.

KOP

translocation


Input: In adolescents, IGF2 rs680 (A) was associated with higher glucose (P = 0. 012) and higher risk in overweight adolescents for altered insulin (OR = 10. 08, P = 0. 005) and homeostasis model of insulin resistance (HOMA-IR) (OR = 6. 34, P = 0. 010).

insulin resistance


Input: Coal workers' pneumoconiosis (CWP) is the most common occupational disease in South Korea and is an important factor in the development of infections with Mycobacterium tuberculosis (MTB) and non-tuberculous mycobacteria (NTM).

MTB

occupational disease


Input: In this study, 199 patients with HBV-associated cirrhosis, 203 with HBV-associated HCC, and 184 healthy controls with no liver diseases were enrolled as participants.

HCC

liver diseases


Input: The CXCR3 chemokine receptor, a member of the CXCR family, has been linked to a pathological role in autoimmune disease, inflammatory disease, allograft rejection, and ischemia.

ischemia

ischemia


Input: In conclusion, urinary exosomal miRNA content is altered in type 1 diabetic patients with incipient diabetic nephropathy and miR-145 may represent a novel candidate biomarker/player in the complication.

diabetic nephropathy

diabetic nephropathy


Input: AKAP95 pathway and pantothenate and CoA biosynthesis were unique to MD.

MD

MD


Input: Thus, we analyzed 18 esophageal cancer cell lines for HIN-1 expression and methylation by reverse transcription PCR (RT-PCR) and methylation specific PCR (MSP).

MSP

esophageal cancer


Input: Eight patients had no evidence of myocardial ischaemia, as measured by electrocardiographic and/or echocardiographic criteria, during dipyridamole infusion: among them, ANF values were similar while they were at rest and at peak dipyridamole administration (23. 9 +/-9. 5 vs 23. 4 +/-6. 9 pg ml-1, P = ns).

ANF

myocardial ischaemia


Input: To test this hypothesis, human pulmonary artery endothelial cells (HPAECs) were exposed to normoxia or hypoxia (1% O (2)) for 72 h and treated with or without the PPARγ ligand rosiglitazone (RSG, 10 μM) during the final 24 h of exposure.

PPARγ

hypoxia


Input: In conclusion, by antagonizing the influence of TGF-beta in brain tissue subjected to excitotoxic or ischemic lesion, the authors markedly exacerbated the resulting extent of necrosis.

TGF-beta

necrosis


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

TNF-beta

MM

TNF-beta

MM


Input: HZ-6d targeted HERC5 to regulate p53 ISGylation in human hepatocellular carcinoma.

hepatocellular carcinoma

hepatocellular carcinoma


Input: Taken together, the results of our study suggest that SIRT7 is involved in protecting neurons against OGD/R-induced injury, possibly through regulation of the p53-mediated proapoptotic signaling pathway, indicating a potential therapeutic target for cerebral ischemia/reperfusion injury.

ischemia/reperfusion injury

ischemia/reperfusion injury


Input: Immunohistochemical analysis of UCN was performed in 112 surgical specimens (21 normal gastric mucosa specimens and 91 gastric adenocarcinoma specimens varying in histologic grade and pathologic stage).

UCN

gastric adenocarcinoma


Input: The crypt isolation technique coupled with DNA cytometric sorting and polymerase chain reaction assay using 10 microsatellite markers tightly linked to the ATM gene were used to study ATM allelic imbalance in 55 colorectal carcinomas (15 diploid, 13 aneuploid, 27 multiploid).

ATM

aneuploid


Input: Sixteen variants were identified (3 in ENPP1 and 13 in TNAP) and were subsequently genotyped in 128 sporadic Caucasian CPPD CC patients and 600 healthy controls using a combination of polymerase chain reaction/restriction fragment-length polymorphism analysis or using Taqman.

sporadic


Input: Down-regulation of plakoglobin in soft tissue sarcoma is associated with a higher risk of pulmonary metastasis.

plakoglobin

pulmonary metastasis


Input: In 12 patients the cause was clarified. Diagnoses included Drash syndrome with Wilms tumor in infancy (3 patients), partial androgen insensitivity resulting from androgen receptor mutations (2), true hermaphroditism (2), chromosomal aberration (1), deficiency of antim & #252; llerian hormone (1), gonadal dysgenesis (1), partial 5 alpha-reductase deficiency caused by a novel point mutation (1), and XX-male syndrome (1).

androgen receptor

partial androgen insensitivity

androgen receptor

partial androgen insensitivity


Input: In an attempt to dissect the role played by mGluR2 and mGluR3 in cue-induced reinstatement, we analyzed the mRNA expression patterns in several relevant brain areas but did not find any significant differences between cocaine addict-like and non-addict-like rats, suggesting that the behavioral differences observed are due to translational rather than transcriptional regulation.

cocaine addict

cocaine addict


Input: We investigated the effects of COX and NOS inhibitors on the healing of duodenal ulcers, in comparison with gastric ulcers, in rats.

NOS

gastric ulcers

NOS

gastric ulcers


Input: Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).

pituitary hormone deficiency


Input: Biodistribution studies reported here, using 131I-labeled cCC49 delta CH1 and 125I-labeled cCC49 in athymic mice bearing human colon carcinoma xenografts, demonstrated that both cMAbs localized to the tumor and cleared from the normal tissues similarly.

colon carcinoma


Input: These results indicate that cyclin I and GDI2 may be potential molecular targets for pancreatic cancer diagnostics and therapeutics.

pancreatic cancer


Input: FISH analyses showed three cases with more than one rearrangement: one MYC/BCL2 and two BCL2/BCL6, in addition to which one case with BCL2/IGH translocation and another with MYC rearrangement were also detected.

translocation


Input: The tumor suppressor adenomatous polyposis coli (APC) is an essential negative regulator of Wnt signaling through its activity in the destruction complex with Axin, GSK3β, and CK1 that targets β-catenin/Armadillo (β-cat/Arm) for proteosomal degradation.

adenomatous polyposis coli


Input: Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.

depression

depression


Input: Expression of HMP/AN2, a melanoma associated antigen, in murine cerebral gliomas: potential for radioimmunotargeting.

HMP

melanoma


Input: The regulation of RhoA on p53, the p53 binding protein homolog murine double minute 2 (MDM2), and VEGF was analyzed in hypoxic MCF-7 cells using Western blot analysis, real-time polymerase chain reaction (PCR) analysis, coimmunoprecipitation, and immunofluorescence staining assays.

VEGF

hypoxic


Input: Association of rheumatoid arthritis with Kartagener' s syndrome in a patient with HLA-DR1-DR4-B27 haplotype.

rheumatoid arthritis


Input: Hence, we propose that downregulation in the expression of the PCFT and the RFC in colon results in reduced levels of these transporters in colon apical membrane LR as a mechanism of folate malabsorption during chronic alcoholism.

PCFT

chronic alcoholism

PCFT

chronic alcoholism


Input: Inherited isolated nail anomaly manifesting with onychauxis and onycholysis is a rare condition, caused by mutations in the gene FZD6, encoding membrane-bound Wnt receptor protein.

Wnt receptor

onycholysis


Input: Five young, obese individuals (body mass index [BMI] 33 to 45 kg/m2, age 14 to 30 years); five adult, lean individuals (BMI 20 to 26 kg/m2, age 39 to 65 years); and five sibling pairs sharing no alleles that were identical by descent at a marker locus proximal to NPY were selected for fluorescence-based sequencing of approximately 1100 base pairs (bp) immediately 5' from the start site and all four exons of NPY.

NPY

body mass index


Input: The TCR delta gene was deleted in 22 cases and was in the germline configuration in 13 lymphomas.

TCR delta gene

lymphomas


Input: One of the key functions of CHC was to bind with the hypoxia-inducing factor (HIF)-1α protein, increasing the stability of this protein and facilitating its nuclear translocation, thereby regulating the expression of VEGF.

VEGF

hypoxia


Input: The severity of DSS-induced colitis, assessed by colonic myeloperoxidase content, was attenuated in NPY (-/-) but not PYY (-/-) mice.

PYY

colitis


Input: We have investigated the possible role of adenosine deaminase (ADA) genetic polymorphism in human fertility through a comparative study of couples with recurrent spontaneous abortion (RSA) and healthy puerperae.

ADA

recurrent spontaneous abortion


Input: When tumor cells are exposed to hypoxia, hypoxia-inducible factor-1alpha (HIF-1alpha) is stabilized and activated to promote the transcription of several genes such as vascular endothelial growth factor (VEGF), but in the presence of E1A hypoxia-induced VEGF m-RNA synthesis is inhibited by E1A binding to p300.

VEGF

hypoxia


Input: Here we show that the expression of EphA2 in in vitro cultured cells, is restricted to cells growing adherently and that adhesion-induced EphA2 expression is dependent upon activation of the epidermal growth factor receptor (EGFR), mitogen activated protein kinase kinase (MEK) and Src family kinases (SRC).

EGFR

adhesion