Input: There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed) and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP) abnormality, leading to absent/low amplitude potentials.

SNAP

fibrillation


Input: Nucleotide excision repair (NER) enzymes are critical for the removal of bulky DNA adducts caused by environmental carcinogens such as smoking.

NER

smoking


Input: We conclude that KCNJ11 mutations are a common cause of PNDM either in isolation or associated with developmental delay.

PNDM

PNDM


Input: Hematologic findings from members of the patients' s family suggest that an alpha-thalassemia gene may be linked to that of the structurally abnormal alpha-chain.

alpha-chain

alpha-thalassemia


Input: We have tested the ability of a plasmid vector-mediated MMP-2 siRNA (p-MMP-2) to modulate ionizing radiation-induced invasive phenotype in the human glioma cell lines U251 and U87.

glioma


Input: PIGA encodes a GPI biosynthesis protein, phosphatidylinositol N-acetylglucosaminyltransferase subunit A, and erythrocytes deficient in GPI-anchored membrane proteins, including CD59, undergo complement-mediated hemolysis.

GPI

hemolysis


Input: Sickle red blood cells (SS-RBCs) have enhanced adhesion to the plasma and subendothelial matrix protein thrombospondin-1 (TSP) under conditions of flow in vitro.

TSP

adhesion


Input: The EMT-activator ZEB1 is crucial in malignant tumor progression by linking EMT-activation and stemness-maintenance.

EMT

tumor progression


Input: An additional question among the NER defective patients is how to reconcile widely different skin and central nervous system symptoms with mutations in the same biochemical pathway.

NER

nervous system symptoms


Input: In this study, we aimed to investigate the potential role and molecular mechanism of miR-148b-3p in regulating cardiomyocyte apoptosis induced by hypoxia/reoxygenation (H/R) injury in vitro, a cellular model of myocardial ischemia/reperfusion injury.

reperfusion injury

reperfusion injury


Input: Small double-stranded RNA mediates the anti-cancer effects of p21WAF1/ClP1 transcriptional activation in a human glioma cell line.

cancer


Input: We sought to determine whether total thyroidectomy in asymptomatic young members of kindreds with MEN-2A who had a mutated allele of the RET proto-oncogene could prevent or cure medullary thyroid carcinoma.

RET proto-oncogene

asymptomatic


Input: Consistently, EV71-stimulated translocation of NF-kappaB into the nucleus and degradation of IkappaBalpha in the cytosol was blocked by pretreatment with the selective inhibitors of MEK1/2 (U0126) and NF-kappaB (Bay11-7085), respectively, suggesting that MEK1/2-p42/p44 MAPK cascade linking to NF-kappaB was involved in COX-2 expression.

translocation


Input: We studied primary samples of 100 patients with lymphoid leukaemias [B-lineage acute lymphoblastic leukaemia (ALL), n = 23; T-ALL, n = 7; B-cell chronic lymphocytic (B-CLL) or prolymphocytic (B-PLL) leukaemia, n = 50; T-CLL/T-PLL, n = 20] using fluorescence in situ hybridization (FISH) with eight overlapping cosmid clones covering the region on chromosome band 9p21 containing CDKN2.

FISH

leukaemia


Input: Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.

PCCB

propionic acidaemia

PCCB

propionic acidaemia


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

bipolar disorder

bipolar disorder


Input: Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.

DMR

transient neonatal diabetes mellitus


Input: BCL2 expression was common (63%) in the absence of BCL2/IGH @translocation.

translocation


Input: By using comparative real-time PCR, Taqman gene expression assays, and the delta-delta comparative threshold method we detected a significant reduction in Kcnma1 expression in microdissected dentate gyrus at different intervals after status epilepticus (24 h, 10 days, 1 month, and more than 2 months).

status epilepticus

status epilepticus


Input: We show that deletion of either TNFR1 or TNFR2 leads to an antidepressant-like response in the forced swim test and that mice lacking TNFR2 demonstrate a hedonic response in a sucrose drinking test compared with wildtype littermates.

drinking


Input: As PTEN is a dual phosphatase mutated in autosomal inherited disorders with phenotypes similar to those of PJS (Bannayan-Riley-Ruvalcaba syndrome and Cowden disease), our study suggests a functional link between the proteins involved in different hamartomatous polyposis syndromes and emphasizes the central role played by LKB1 as a tumor suppressor in the small intestine.

PJS

PJS


Input: The CyplA1 Mspl polymorphism itself does not seem to be related to susceptibility to bronchial carcinogenesis in this area.

Mspl

carcinogenesis


Input: Filamin A studies in other children with FG syndrome would help to confirm this association.

Filamin A

FG syndrome

Filamin A

FG syndrome


Input: EPO injections improved blood counts in' anemic' patients (< or = 12. 0 g/dl) receiving chemotherapy, but had little effect when administered to patients with higher hemoglobin concentrations.

EPO

hemoglobin


Input: Our results indicated that RSV induced ultrastructural abnormalities in axonemal basal bodies and decreased the expression of β-tubulin as well as two genes involved in ciliagenesis, FOXJ1 and DNAI2.

abnormalities


Input: Inhibition of CDH11 decreases SMC migration and proliferation, two pathogenic effectors of intimal hyperplasia.

SMC

intimal hyperplasia


Input: Epithelial protein lost in neoplasm modulates platelet-derived growth factor-mediated adhesion and motility of mesangial cells.

Epithelial protein lost in neoplasm

adhesion


Input: We conclude that total myocardial apelin and APJ receptor levels increase in compensation for ischemic cardiomyopathy.

apelin

ischemic cardiomyopathy


Input: Only two DR5 + patients (20%) had cryoglobulinemia, while 6 patients (30%) in the DR5-group had cryoglobulinemia (p = 0. 02; OR = 0. 07).

cryoglobulinemia


Input: NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain.

pediatric granulomatous arthritis

pediatric granulomatous arthritis


Input: After infection of gliomas U87 cells with equal amount of the recombinant retrovirus, TNF-α, and IL-1β concentrations in the supernatant of U87 cells were determined with ELISA.

gliomas


Input: We found that, in the majority of ovarian carcinomas (61. 5%) and in a significant proportion of ovarian and breast cancer cell lines (45%), ARLTS1 is strongly down-regulated due to DNA methylation in its promoter region.

ovarian carcinomas

ovarian carcinomas


Input: Based upon these new findings, we recommend a combinatorial approach involving ASS1 sequencing and amniotic fluid citrulline/ornithine for the prenatal diagnosis of citrullinemia type I.

citrullinemia type I

citrullinemia type I


Input: In 11 patients with a recessive congenital disorder, which we refer to as " the hypotonia-cystinuria syndrome, " microdeletion of part of the SLC3A1 and PREPL genes on chromosome 2p21 was found.

hypotonia-cystinuria syndrome

hypotonia-cystinuria syndrome


Input: METHODS: We examined the effects of PARG protein knockdown by RNA interference on invasion, migration and matrix adhesion of colon carcinoma cell lines in vitro and using a murine in vivo model of liver metastasis.

PARG

adhesion


Input: The activity of p38 was enhanced by infecting RA synovial fibroblasts with a replication-defective adenovirus that expresses a constitutively active form of MAPK kinase 3 (Ad-CA-MKK3), an upstream activator of p38.

adenovirus


Input: RCAN1 overexpression promotes age-dependent mitochondrial dysregulation related to neurodegeneration in Alzheimer' s disease.

neurodegeneration


Input: The helminth product ES-62 protects against septic shock via Toll-like receptor 4-dependent autophagosomal degradation of the adaptor MyD88.

septic shock


Input: To investigate the expressions of the insulin receptor (IR), insulin receptor substrate-1 (IRS-1), insulin receptor substrate-2 (IRS-2), phosphatidyl inositol 3-kinase (PI3K) and insulin-like growth factor-1 (IGF-1) of the livers of the male adult rats born with intrauterine growth retardation (IUGR), and to find out the relationship between IUGR and insulin resistance in their adult life.

insulin resistance


Input: Prevention of apoptosis-inducing factor translocation is a possible mechanism for protective effects of hepatocyte growth factor against neuronal cell death in the hippocampus after transient forebrain ischemia.

hepatocyte growth factor

ischemia


Input: Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts.

gerodermia osteodysplastica

gerodermia osteodysplastica


Input: Analysis of tumor xenografts demonstrated that PKM1 fibroblasts greatly induced tumor inflammation, as judged by CD45 staining.

inflammation


Input: The PNK protein is a key enzyme involved in the repair of single and double stranded DNA breaks, a process which is particularly important in the nervous system.

PNK

nervous system


Input: Our findings implicate MsrA as a negative regulator of vascular smooth muscle cell proliferation and neointimal hyperplasia after vascular injury through control of the Ras/Raf/mitogen-activated protein kinase kinase/extracellular signal-regulated kinase 1/2 signaling pathway.

extracellular signal-regulated kinase 1

hyperplasia


Input: Sodium iodide symporter expression showed up in all 20 cholangiocarcinomas, but in only 2 of the 26 hepatocellular carcinomas, investigated.

Sodium iodide symporter

cholangiocarcinomas

Sodium iodide symporter

cholangiocarcinomas


Input: Prolidase deficiency is a rare recessive disorder caused by mutations in the prolidase gene and characterized by severe skin lesions.

prolidase

Prolidase deficiency

prolidase

Prolidase deficiency


Input: Multiple regression analyses performed among the entire cohort of patients demonstrated that ACE genotype significantly and independently influences the presence of retinopathy, left ventricular hypertrophy, and microalbuminuria.

ACE

microalbuminuria


Input: Ten Aza-dC and/or TSA up-regulated genes (CPEB1, CD9, GJA1, BCL7c, GADD45G, AKAP12, TFPI2, CCNA1, SPARC, and BNIP3) were selected for methylation analysis in six MM cell lines, 24 samples from patients with monoclonal gammopathy of undetermined significance (MGUS), and 111 samples from patients with MM.

monoclonal gammopathy of undetermined significance


Input: To explore the changes of vascular endothelial growth factor (VEGF), aquaporin (AQP) gene and protein expression during hypoxic encephaledema so as to provide the basis for elucidating the brain injury caused by acute hypoxic exposure and pathogenesis of the encephaledema.

VEGF

hypoxic


Input: For in vitro study MX-1 cultures were grown on dishes with a gas-permeable bottom to expose the cells to defined O2 concentrations (from 95% to 0%) for 4 h. Northern blot analysis showed significant VEGF mRNA in MX-1 cultures under normoxic conditions which was further increased by hypoxia.

VEGF

hypoxia


Input: Opposite functions of HIF-α isoforms in VEGF induction by TGF-β1 under non-hypoxic conditions.

VEGF

hypoxic


Input: Lynch syndrome is a cancer predisposition syndrome caused by germline mutations in DNA mismatch repair (MMR) genes with microsatellite instability (MSI) as its molecular hallmark.

MMR

microsatellite instability


Input: IL-17A and IL-17F are inflammatory cytokines expressed by a novel subset of CD4 + Th cells and play critical function in inflammation.

inflammation


Input: Relations of TaqIA and TaqIB DRD2 genotypes with Parkinson' s disease were investigated and tested for interactive effects with smoking and the monoamine oxidase B (MAO-B) intron 13 polymorphism previously found to be related to smoking.

smoking


Input: PTPA knockdown decreased mitochondrial membrane potential and induced Bax translocation into the mitochondria with a simultaneous release of Cyt C, activation of caspase-3, cleavage of poly (DNA ribose) polymerase (PARP), and decrease in Bcl-xl and Bcl-2 protein levels.

PTPA

translocation


Input: In a rat stroke model, administration of IL-8-treated hBM-MSCs decreased the infarction volume and increased angiogenesis in the ischemic boundary zone compared with hBM-MSC treatment alone.

MSC

infarction


Input: In a lymphoblastoid cell line derived from a patient who developed MLL rearrangement, positive infant leukemia, defective ATM expression, and increased TOP2A expression were shown.

ATM

infant leukemia


Input: To further analyze the alpha (v) beta3 signaling in melanoma cells, we over expressed OPN in M21 cells (M21/OPN).

melanoma


Input: In this study, we examined the synuclein exprsssion in colorectal cancer (CRC) tissues, tumor-matched non-neoplastic adjacent tissues (NNAT), and CRC cell lines, and then investigated clinical significance of synucleins.

NNAT

non-neoplastic


Input: Immunohistochemical analysis for epithelial membrane antigen, calretinin, vimentin, & #946;-catenin, melan-A, glucose transporter-1, cytokeratin CAM5. 2, Wilms tumor antigen-1, D2-40, CD146, progesterone receptor, estrogen receptor, and cytokeratin 5/6 was indicative of malignant mesothelioma.

melan-A

malignant mesothelioma

melan-A

malignant mesothelioma


Input: Ongoing whole-genome association studies in bipolar disorder and major depression should further clarify the role of FKBP5 and other HPA genes in these illnesses.

HPA

major depression

HPA

major depression


Input: There was a significant difference in the frequency of the E-cadherin 3'-UTR C--> T genotypes between endometriosis and controls (P = 0. 01).

UTR

endometriosis


Input: MiR-124 inhibits neoplastic transformation, cell proliferation, and metastasis and downregulates Rho-associated protein kinase (ROCK1) in Colorectal Cancer (CRC).

neoplastic transformation, cell


Input: We demonstrated for the first time that increased protein expression level of GNG2 alone inhibits proliferation of malignant melanoma cells in vitro and in vivo, suggesting that GNG2 could be a novel molecular target for malignant melanoma therapy.

malignant melanoma


Input: We conclude that adenoviral-mediated VEGF overexpression in the lungs attenuates development of hypoxic PH, in part by protecting endothelium-dependent function.

VEGF

hypoxic


Input: Since PPARγ is known to be regulated by hypoxia in adipose tissue, we hypothesized that there may be a link between oxygen tension, PPARγ expression, and trophoblast differentiation.

PPARγ

hypoxia


Input: A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

autosomal recessive primary microcephaly

autosomal recessive primary microcephaly


Input: Our findings suggest a central role for Fgd1 in the focal degradation of the ECM in vitro and, for the first time, show a connection between Fgd1 and cancer progression, proposing that it might function during tumorigenesis.

ECM

tumorigenesis


Input: Docetaxel and epirubicin supported by granulocyte colony-stimulating factor first-line in advanced breast cancer.

granulocyte colony-stimulating factor

breast cancer

granulocyte colony-stimulating factor

breast cancer


Input: Here, we report on the role of the BH4 domain in bcl-2 functions, by showing that removal of or mutations at the BH4 domain abrogate the ability of bcl-2 to induce VEGF protein expression and transcriptional activity under hypoxia in human melanoma cells.

VEGF

hypoxia


Input: Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.

Bietti crystalline corneoretinal dystrophy

Bietti crystalline corneoretinal dystrophy


Input: This report concerns a male with a SGBS1, carrier of a GPC3 pathogenic mutation, and neonatal liver disease, who developed an early biliary cirrhosis.

biliary cirrhosis


Input: Klkb1 (-/-) mice have delayed carotid artery occlusion times on the rose bengal and ferric chloride thrombosis models.

carotid artery occlusion


Input: The functional relationship between IGFBP-6 and vascular endothelial growth factor (VEGF), a major hypoxia-inducible angiogenic molecule, was examined.

VEGF

hypoxia


Input: We searched for a mutation associated with narcolepsy in the promoter region of the TNF alpha gene by single-strand conformation polymorphism analysis.

alpha gene

narcolepsy


Input: Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin.

FUS gene

sporadic


Input: Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

congenital dyserythropoietic anemia type II

congenital dyserythropoietic anemia type II


Input: Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.

PCCB

propionic acidemia

PCCB

propionic acidemia


Input: We have assessed evidence for linkage and association involving polymorphisms in 10 circadian clock genes (ARNTL, CLOCK, CRY2, CSNK1epsilon, DBP, GSK3beta, NPAS2, PER1, PER2, and PER3) to BPAD.

BPAD

BPAD


Input: SNPs in the 5' genomic region in ITK, which show moderate linkage disequilibrium with those in TIM 3, had an independent effect on atopy.

TIM

atopy


Input: Fasting plasma glucose (FPG), postprandial plasma glucose (PPG), glycated hemoglobin (HbAlc), fasting serum insulin (FINS), postprandial serum insulin (PINS), homeostasis model assessment for insulin resistance (HOMA-IR), serum triglyceride, total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-c), and high-density lipoprotein-cholesterol (HDL-c) were determined before and after repaglinide treatment.

PINS

insulin resistance


Input: A genetic basis has been identified linking the disease to mutations in KCNH2 in the familial forms and a mutation in KCNQ1 in a sporadic form of the disease.

sporadic


Input: In conclusion, MBL genotype modulates arterial stiffness, an important cardiovascular risk factor, in children after KD.

MBL

arterial stiffness


Input: In parallel studies, human pulmonary artery endothelial cells (HPAECs) were exposed to control (21% O2) or hypoxic (1% O2) conditions for 72 h. Hypoxia increased HPAEC proliferation, miR-27a and ET-1 expression, and reduced PPARγ expression.

PPARγ

hypoxic


Input: We exposed U87 cells and mice bearing U87 glioma to experimentally imposed cycling or non-interrupted hypoxic stress in vitro and in vivo prior to treatment with ionizing irradiation.

glioma


Input: To study the correlation between a pentanucleotide repeats (PNR) polymorphism of APOA and the genesis of intracranial aneurysm.

PNR

intracranial aneurysm


Input: Myhre syndrome and the allelic laryngeal stenosis, arthropathy, prognathism and short stature syndrome are caused by a missense mutation of SMAD4, resulting in altered expression of transforming growth factor β and bone morphogenic protein, affecting cell growth and differentiation.

laryngeal stenosis


Input: Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c. 1945C & gt; T [p. Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome).

SHORT syndrome

SHORT syndrome


Input: Lung pathological analysis revealed that TNF/LT deficiency reduced CAP exposure-induced pulmonary inflammation.

TNF

pulmonary inflammation

TNF

pulmonary inflammation


Input: The aim of the present study was to investigate alterations of DNA methylation in the dopamine D2 receptor (DRD2)-gene in participants with pathologic gambling behavior.

gambling


Input: Combined GADD45A and thymidine phosphorylase expression levels predict response and survival of neoadjuvant-treated gastric cancer patients.

gastric cancer

gastric cancer


Input: Here we show that wild-type MPL expression is increased in a fraction of human AML samples expressing RUNX1-ETO, a fusion protein created by chromosome translocation t (8; 21), and that up-regulation of Mpl expression in mice induces AML when coexpressed with RUNX1-ETO.

chromosome translocation


Input: Infecting cells with adenovirus encoding constitutively active RhoA (L63) and measuring absolute amounts of RhoA-GTP in infected cells demonstrated that the lack of RhoA (L63)-induced DNA synthesis in IQGAP1-depleted cells was not due to reduced GTP-bound RhoA.

adenovirus


Input: Here we describe two unrelated individuals who have pathogenic variants in FUK and who presented with severe developmental delays, encephalopathy, intractable seizures, and hypotonia.

FUK

hypotonia

FUK

hypotonia


Input: SP1 protein and mRNA were reduced in the prefrontal cortex in schizophrenia whereas none of Sp factors were altered in the cerebellum.

schizophrenia

schizophrenia


Input: In order to evaluate bcl-2 expression in both follicular B-lymphomas carrying or not carrying the 14; 18 translocation and in lymphatic leukemias, we optimized an internal standard-based method of reverse transcriptase-polymerase chain reaction (RT-PCR) for the rapid quantitation of bcl-2 mRNA cellular levels.

translocation


Input: We determined the expression of MT1/2 and MT3 in prostate carcinoma cells by immunoblotting assays or real-time reverse transcription-polymerase chain reactions.

prostate carcinoma


Input: Two enzymes involved in the phospholipase C signalling system, namely the myo-inositol monophosphatase (IMPase) and the inositol polyphosphate 1-phosphatase (IPPase), have been postulated as targets for the therapeutic action of lithium in manic-depressive illness.

IMPase

manic-depressive illness


Input: IFN was effective in controlling purpura (80%) but was moderately effective on severe haematuria/proteinuria, renal insufficiency and neuropathy.

IFN

purpura


Input: This induction of VEGF was comparable to, if not greater than, that found after exposure of cells to hypoxia.

VEGF

hypoxia


Input: In addition, we used an in vitro model of defective MMR to demonstrate that microsatellite instability can be induced in an otherwise stable cancer cell line by transfection with a dominant negative fragment of PMS2.

MMR

microsatellite instability


Input: The sensitivity of GP5/GP6 was 74% with cold-start PCR and 78% with hot-start PCR.

cold


Input: It was shown that obesity with normal insulin sensitivity enhances the expression of IRS1, RIPK2, IL13RA2, RSPO1, IQSEC, and CCN2 genes but decreases the expression level IRS2 and DNAJC15 genes in the blood cells as compared to control group.

obesity


Input: The expression of these molecules, the activity of mitochondrial dehydrogenase and PDC, and their alterations by starvation, a treatment used to induce PGC-1α expression, were examined in cultured human biliary epithelial cells (BECs).

starvation


Input: The hypoxic stimuli were not responsible for Ang-2 upregulation, unlike that of VEGF, in human HCC cells.

VEGF

hypoxic


Input: MiroRNA-9 (miR-9) targeted NF-κB1, and miR-9 inhibitor also reversed the effects of BANCR on gastric cancer cell growth and apoptosis.

BANCR

gastric cancer


Input: HIF-1 and VEGF proteins in MDA-MB-343 cells were significantly downregulated upon the efficient knockdown of OPN expression under either hypoxia or normoxia environment.

VEGF

hypoxia


Input: Obesity-induced weight gain, increase in fasting blood glucose and insulin levels, and augmented expression of gluconeogenic genes were restored to normal only 3 months after AAV treatment.

AAV

weight gain


Input: No correlation was found between the reduced GLP-1R expression and clinical parameters including body mass index, age, glycosylated hemoglobin, and disease duration.

hemoglobin


Input: YB-1 and G3BP1 expression are highly correlated in human sarcomas, and elevated G3BP1 expression correlates with poor survival.

sarcomas


Input: Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.

Aromatase excess syndrome

Aromatase excess syndrome


Input: Similarly, methotrexate (MTX) is a first-line chemotherapy used to treat choriocarcinoma; although ~ 30% of patients are drug-resistant for MTX mono-therapy.

MTX

mono


Input: Imbalance between oxidative stress and helper T-cell (Th1)-derived cytokines is one possible cause for the pathogenesis of systemic lupus erythematosus (SLE).

systemic lupus erythematosus


Input: In hypoleptinemic diabetic rats with 4. 5-fold higher blood glucose and 15% lower body weight than controls, GALP mRNA levels in the ARC were decreased by 90%, while NPY mRNA levels were increased 9-fold (n = 5, p < 0. 001).

GALP

body weight


Input: Fifty-seven HIV-tuberculosis (TB)-coinfected and 15 HIV-1-infected patients receiving combination antiretroviral therapy (CART) with an efavirenz (600 mg once daily)-containing regimen were recruited.

CART

tuberculosis


Input: The 14; 18 chromosome translocation, characteristic of most human follicular B-cell lymphomas, juxtaposes the bcl-2 gene with the IgH locus, creating a bcl-2/IgH hybrid gene.

chromosome translocation


Input: In this study, we tested the hypothesis that mutations in the GABRA1, GABRB3, and GABRG2 genes encoding the alpha1, beta3, and gamma subunits of the GABA (A) receptor are involved in familial primary dystonia.

primary dystonia


Input: We analyzed the association between Cytosine-Adenosine (CA) 10-24 repeats polymorphism in promoter region of the IGF-I gene and early growth in infants with birth weight appropriate for gestational age (AGA) and small for gestational age (SGA).

IGF-I

birth weight


Input: Synovial sarcomas (SS) are characterized by a chromosomal translocation t (X; 18) (p11. 2; q11. 2) which usually fuses the SYT gene from chromosome 18 to SSX1 or SSX2 genes on chromosome X.

chromosomal translocation


Input: We report here that patients with Omenn syndrome, a severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T cells, hypereosinophilia, and high IgE levels, bear missense mutations in either the Rag-1 or Rag-2 genes that result in partial activity of the two proteins.

Omenn syndrome

Omenn syndrome


Input: With a regression model we explained 60. 0% of variability in warfarin dose, which was due to gene polymorphisms (CYP2C9, VKORC1), age and body-surface-area.

regression


Input: The Ala54Thr/Thr54Thr group compared with the Ala54Ala group showed significant decreases in the parameters of weight (-7. 5 versus-4. 2 kg), body mass index (-2. 1 versus-1. 2 kg/m (2)), waist circumference (-7. 6 versus-5. 2 cm), waist-to-hip ratio (-0. 04 versus-0. 02), and C-reactive protein (-1. 4 versus-0. 76 mg/L), respectively (P < 0. 05).

C-reactive protein

waist-to-hip ratio


Input: PARP2 levels were unchanged between normal and tumor tissues and few tumors showed overexpression of PARG (3. 8%) or ARH3 (3. 4%).

tumors


Input: Using lentiviral delivery of Sox2 specifically to the mouse lung, we tested the ability of Sox2 to promote tumorigenesis in multiple tumor suppressor backgrounds.

tumorigenesis


Input: Our results suggest that IL-10 and IL-13 contribute to the pathogenesis of PSS and might explain the B cell abnormalities and the development of lymphoma observed in this autoimmune disease.

abnormalities


Input: Common genetic polymorphisms within the promoter and exonic sequences of CYBA, the gene that encodes the p22 (phox) subunit of NADPH oxidase, have been characterized in the context of cardiovascular diseases.

cardiovascular diseases


Input: Infusion of angiotensin II resulted in an increase in mean arterial pressure, serum aldosterone levels and GFR, and in a decrease in RPF (all P < 0. 001).

GFR

mean arterial pressure


Input: Biallelic mutations in & lt; i & gt; USP45, & lt;/i & gt; encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis.

Leber congenital amaurosis

Leber congenital amaurosis


Input: Human U87 MG glioma cells were transduced with AdCMV-TK75 and exposed to ACV followed by single-dose irradiation and colony-forming survival assays.

glioma


Input: Thiazide therapy for ACTH-induced hypercalciuria and nephrolithiasis.

ACTH

nephrolithiasis

ACTH

nephrolithiasis


Input: However, the roles of other genes, such as CSF3 (colony stimulating factor 3 receptor), CD40, TNFSF14 (tumor necrosis factor receptor superfamily, member 14), IFNB1 (interferon-β1), TIRAP (toll-interleukin 1 receptor domain containing adaptor protein), IL2RA (interleukin 2 receptor α), ETS1 (v-ets avian erythroblastosis virus E26 oncogene homolog 1), GADD45B (growth arrest and DNA-damage-inducible 45 β), BIRC3 (baculoviral IAP repeat containing 3), VAV1 (vav 1 guanine nucleotide exchange factor), COL5A1 (collagen, type V, α1), and C3 (complement component 3), have not been investigated thoroughly in the process of periodontitis.

periodontitis


Input: Periostin interacts with multiple cell-surface receptors, most notably integrins, and signals mainly via the PI3-K/Akt and other pathways to promote cancer cell survival, epithelial-mesenchymal transition (EMT), invasion, and metastasis.

metastasis


Input: We detected four 3' UTR variants (c. * 48 G > A, c. * 59 G > A, c. * 108 C > T and c. * 110 G > A) in four sporadic and in one familial ALS patients compared with none in controls (P = 0. 02). We investigated whether these variants impaired FUS expression in primary fibroblast cultures from three patients harbouring the c. * 59 G > A, c. * 108 C > T and c. * 110 G > A variants, respectively.

FUS

sporadic


Input: Overexpression of CTGF is linked to many fibrotic diseases, but its exact role in airway remodelling is unknown.

CTGF

airway remodelling


Input: Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia.

iron-refractory iron deficiency anemia

iron-refractory iron deficiency anemia


Input: We have analysed the association of single-nucleotide polymorphisms (SNPs) in CD40 and CD40L genes with bone mineral density (BMD) in our women.

bone mineral density


Input: Analysis of HOXD1, MYC, TIPARP and SKAP1 at these loci and of BNC2 at 9p22 supports a functional role for these genes in ovarian cancer development.

MYC

ovarian cancer

MYC

ovarian cancer


Input: These Hdac3-deficient mice have reduced bone formation and lower circulating levels of total and undercarboxylated osteocalcin, coupled with decreased bone resorption activity.

bone resorption


Input: Consistent with the RNA expression profiles, Active cancer-adjacent tissues exhibited higher density of TWIST nuclear staining, predominantly in epithelium, and no evidence of increased fibrosis.

TWIST

fibrosis


Input: In this review, we summarize a growing body of preclinical and clinical data that indicate that while NEDD9 is itself non-oncogenic, changes in expression of NEDD9 (most commonly elevation of expression) are common features of tumors, and directly impact tumor aggressiveness, metastasis, and response to at least some targeted agents inhibiting NEDD9-interacting proteins.

aggressiveness


Input: WDR4 maps between PDE9A and NDUFV3, a region where several genetic disorders, including a form of manic-depressive psychosis, also map, and seven sequence variants observed in the WDR4 gene could be used in association studies.

manic-depressive psychosis

manic-depressive psychosis


Input: In children with recurring otitis media, MEF samples were positive for HPeV in 15% of episodes.

MEF

otitis media


Input: We investigated the methylation status in the promoter regions of the CDKN2A/p16, hMLH1, and MGMT genes in human non-neoplastic rectal mucosa and evaluated whether these methylation markers may predict the presence of adenomatous polyps in the colon.

MGMT

non-neoplastic


Input: Under hypoxia, the induction by macrophages for IL-8 expression was increased significantly in distant metastatic cell lines NCI-N87 and HS-746T, VEGF-A was increased in HGC-27 cell line.

VEGF-A

hypoxia


Input: Because the mRNA expression of cyclooxygenase-2 (COX-2) is up-regulated by arecoline in human gingival fibroblasts, as shown in our previous study, we further investigated the mRNA expression level of COX-2 and its upstream effectors in three oral epithelial carcinoma cell lines (KB, SAS, and Ca9-22) by using areca nut extract (ANE) and saliva-reacted ANE (sANE).

SAS

epithelial carcinoma


Input: Our results suggest that hypertension in IEX-1 knockout mice may arise primarily from impaired cAMP signaling induced by overproduction of mitochondrial reactive oxygen species in vascular smooth muscle cells and demonstrate a causal relationship between mitochondrial dysfunction and cAMP-dependent vasorelaxation.

hypertension

hypertension


Input: TAT-CARP-1 (1-198) as well as (896-1150) peptides also suppressed growth of WSU-DLCL2 cell-derived tumor xenografts in SCID mice, while administration of TAT-CARP-1 (1-198) also inhibited growth of WSU-FSCCL cell-derived ascites and prolonged host survival.

ascites


Input: Conversely, with the " knockdown " of ras and RPS2 in malignant PC-3ML cells (i. e., in pLKO. TRC. shRNA. ras. PC3-ML, pLKO. TRC. shRNA. RPS2. PC-3ML transfected cells), there was both a loss of these functions and a loss of tumorigenesis in SCID mice.

tumorigenesis


Input: Mutations of the K2e gene involving five different residue positions (Q187P, T485P, L490P, E493D, E493K and E494K) are known to cause ichthyosis bullosa of Siemens.

ichthyosis bullosa of Siemens

ichthyosis bullosa of Siemens


Input: Immunohistochemistry was used to analyse expression of key HR pathway proteins (ATM, ATR, BRCA1, MDC1, MRE11) and PARP-1 in 100 serous ovarian cancer (SOC) and 100 triple-negative breast cancer (TNBC) tumour samples from Japanese patients.

SOC

triple-negative breast cancer


Input: None of BIRC5, FGFR3, IGF2, KRT20, UPK2, EBF1, CDH1, FXYD3, HTERT, TP53, AGR2, HER2 and VEGF were correlated either tumour progression or survival.

tumour progression


Input: Thus, to clarify genetic alterations in the early stage of pancreatic carcinogenesis, we analyzed K-ras gene mutations and loss of heterozygosity (LOH) at the p53 gene locus using 37 cases of MPTs harboring dysplastic epithelium.

MPTs

carcinogenesis


Input: Here, we designed an antibody mimetic fused with diphtheria toxin to target the U87 MG glioma cell line.

glioma


Input: Since there is a pathophysiological link between SIRT1 and PGC-1alpha and mitochondrial energy, the implication of the study is that mitochondrial dysfunction due to alcohol abuse can be treated by dietary modifications.

alcohol abuse

alcohol abuse


Input: By CCK-8 assay and flow cytometry assay, overexpression of SULT1E1 and PAPSS1 by adenovirus blocked the estrogen pro-proliferating effect and promoted cell apoptosis induced by H (2) O (2) in MCF-7 cells.

adenovirus


Input: Macrophage production of VEGF is upregulated by hypoxia and TGFbeta-1, both of which occur in the tumor environment.

VEGF

hypoxia


Input: A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.

RET

multiple endocrine neoplasia type 2A

RET

multiple endocrine neoplasia type 2A


Input: We conclude that differential expression of MS4A1 in this comparative gene expression study of ARLC-SCC versus NARLC-SCC is a stromal signal of uncertain significance, and an example of the rationale for tumor cell enrichment in preparation for gene expression studies where the aim is to identify markers of particular tumor phenotypes.

ARLC-SCC

ARLC-SCC


Input: NME1 suppression promotes growth, adhesion and implantation of endometrial stromal cells via Akt and MAPK/Erk1/2 signal pathways in the endometriotic milieu.

adhesion


Input: Individuals affected with the neurofibromatosis 1 (NF1) tumor predisposition syndrome are prone to the development of multiple nervous system tumors, including optic pathway gliomas (OPG).

OPG

tumor predisposition syndrome


Input: OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

autosomal dominant optic atrophy

autosomal dominant optic atrophy


Input: Retinoic acid-related Orphan Receptor alpha (RORα; NR1F1) is a widely distributed nuclear receptor involved in several (patho) physiological functions including lipid metabolism, inflammation, angiogenesis, and circadian rhythm.

circadian rhythm


Input: A mutated transketolase transcript (TKTL1) has been found up-regulated in different human malignancies, and strong TKTL1 protein expression has been associated with aggressiveness and poor patient survival in several epithelial cancers.

aggressiveness


Input: Mutant Huntingtin induces activation of the Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3).

adenovirus


Input: ], retinal ganglion cell death, and axonal degeneration) closely resembling those seen in patients with POAG caused by the Y437H MYOC mutation.

MYOC

axonal degeneration


Input: Carvedilol reduced collagen I, III and fibronectin by 40/60/35% (0. 1 microM; P & lt; 0. 001) irrespective of LVH.

fibronectin

LVH

fibronectin

LVH


Input: In light of the evidence for linkage between the chromosomal location of the CDKN1B gene (12p13) and prostate cancer susceptibility in several hereditary prostate cancer (HPC) populations, we hypothesized that sequence variants of CDKN1B play a role in HPC.

prostate cancer susceptibility


Input: Arousal from sleep was diminished, and breathing drives accentuated in mutant mice indicating that these protective responses are partially regulated by beta2-containing nAChRs.

breathing


Input: Importantly, DIO3 silencing was associated with decreases in cell proliferation, thus suggesting a D3 role in tumor growth and aggressiveness.

aggressiveness


Input: The methylation status of eleven genes (ADAMTS1, CDKN2A, CRABP1, HOXA9, MAL, MGMT, MLH1, NR3C1, PTEN, RUNX3, and SCGB3A1) was determined in 154 tissue samples including normal mucosa, adenomas, and carcinomas of the colorectum.

carcinomas


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: These K14/IL-7 mice develop dermal and epidermal T cell infiltrates associated with alopecia.

alopecia


Input: During hypoxia a significant upregulation of in VEGF mRNA, GLUT-1 mRNA, and Glut-1 and-3 protein occurred with a distinctly different time course in the two cell lines.

VEGF

hypoxia


Input: Prooxidant states were found in white blood cells and body fluids from FA patients as excess luminol-dependent chemiluminescence, 8-hydroxy-deoxyguanosine, reduced glutathione/oxidized glutathione imbalance, and tumour necrosis factor-& #945;.

tumour necrosis factor

FA

tumour necrosis factor

FA


Input: Our aim was to characterize the molecular and genotypic profile of eight thyroid carcinoma-derived cell lines-TPC1, FB2, B-CPAP, K1, XTC-1, C643, 8505C, and Hth74-in order to use them as in vitro models of thyroid carcinogenesis.

CPAP

carcinogenesis


Input: This is to our knowledge the first demonstration of a PAH missense variant with no apparent association to PAH deficiency.

PAH

PAH deficiency

PAH

PAH deficiency


Input: In the present study, we focused on the localization of apoptosis-inducing factor (AIF), which is an important protein in the signal-transduction system through caspase-independent pathways, to investigate the possible mechanism for the protective effect of HGF after transient forebrain ischemia.

HGF

ischemia


Input: GATA-1 platelets within platelets and attached to platelets, as well as giant platelets, suggest that proplatelet formation may be abnormal, or that GATA-1 platelets are unable to pinch off from megakaryocyte proplatelets in a normal manner.

giant platelets


Input: We conclude that hypoxia plays an important role in human sarcomas but hypoxic up-regulation of VEGF-A expression does not attenuate the efficacy of VEGF-A RNA interference.

VEGF-A

hypoxic


Input: Hepatic regulation of VLDL receptor by PPAR & #946;/& #948; and FGF21 modulates non-alcoholic fatty liver disease.

VLDL receptor

non-alcoholic fatty liver disease

VLDL receptor

non-alcoholic fatty liver disease


Input: EKA/B 10-mers displayed equivalent affinity for the three tachykinin receptors as substance P (SP), whereas a 32-mer N-terminal extended form of EKB was significantly more potent than EKA/B or SP.

substance P

mers


Input: Adenoviral constructs encoding full length IQGAP1, the C‑terminal fragment of IQGAP1, and the constitutively active RhoC gene were used to infect gastric cancer cells to increase the expression of the proteins.

RhoC gene

gastric cancer


Input: Our results suggest that a point mutation at codon 569 of MPO gene represents one molecular form of MPO deficiency.

MPO

MPO deficiency

MPO

MPO deficiency


Input: Polymorphisms in 3' untranslated region (UTR) of cancer-related genes might affect regulation by microRNA (miRNA) and contribute to carcinogenesis.

UTR

carcinogenesis


Input: To test whether single nucleotide polymorphisms (SNPs) of the 4 vitamin D family genes (DHCR7, CYP2R1, CYP27B1, and CYP24A1) previously associated with several autoimmune diseases are associated with ocular Behçet disease, Vogt-Koyanagi-Harada (VKH) syndrome, acute anterior uveitis (AAU) with ankylosing spondylitis, or pediatric uveitis in the Chinese Han population.

acute anterior uveitis


Input: Our results show that the siRNAs directed against total LMW-PTP and LMW-PTP slow isoform enhanced cell motility in an invasive breast cancer cell line, MDA-MB-435, with no changes in the proliferation and invasive potential of cells.

LMW-PTP

invasive breast cancer


Input: In 2011, we conducted this genetic association analysis between 11 SNPs in YWHAE and bipolar disorder, involving a male group and a female group.

YWHAE

bipolar disorder

YWHAE

bipolar disorder


Input: Genes associated with immune function (CTLA4, CTSS), reflexive coupling within Schwann cells (GJE1), drug binding (PSMB1), and neuron function (TCF4, DYNC1I1) associated with bortezomib-induced PN in this study.

PN

PN


Input: We analyzed the morphology and motility of invasive cancer cells that were treated with exogenous exosomes in the presence or absence of hsp90alpha.

invasive cancer


Input: We also examined periostin expression in neonatal lung mesenchymal stromal cells and lung tissue of hyperoxia-exposed neonatal mice and human infants with BPD.

periostin

BPD

periostin

BPD


Input: Serum levels of surfactant protein D are increased in mice with lung tumors.

surfactant protein D

lung tumors

surfactant protein D

lung tumors


Input: It was recently demonstrated that phosphorylation of RalA S194 by Aurora A kinase (AAK) is critical for PDAC tumorigenesis.

RalA

tumorigenesis


Input: Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with " mild " mutation (s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.

Mitochondrial acetoacetyl-CoA thiolase

mild


Input: FISH, RT-PCR, and sequence analyses revealed an EWSR1-ATF1 fusion gene that has previously been reported in clear cell sarcoma (CCS), a soft tissue sarcoma that is morphologically and clinically distinct from AFH.

FISH

clear cell sarcoma


Input: A wrist actigraph was worn for 72 h on weekdays to estimate sleep duration or total sleep time (TST), sleep disruption or percentage of wake after sleep onset (WASO) and several circadian rhythm parameters: mesor, amplitude, the ratio of mesor to amplitude (circadian quotient), and 24-h autocorrelation.

TST

circadian rhythm


Input: Profound left ventricular remodeling associated with LAMP2 cardiomyopathy.

ventricular remodeling


Input: In this report, we describe two adult brothers with chronic granulomatous disease treated successfully with IFN-gamma for acute liver abscesses.

IFN

chronic granulomatous disease


Input: In conclusion, H19 and SNRPN may play significant roles in the tumorigenesis of MMMT and H19 may have tumor-promoting activity in addition to its known tumor-suppressing activity, probably depending on the tissue and the local milieu.

SNRPN

tumorigenesis


Input: RBP56 has not previously been shown to be involved in tumorigenesis but it encodes a putative RNA-binding protein similar to the EWS and FUS (TLS) proteins known to play a pathogenetic role in several sarcomas.

RNA-binding protein

sarcomas


Input: We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46, XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries.

aromatase deficiency

aromatase deficiency


Input: This translocation creates a fusion between the acute myelogenous leukemia 1 (AML1, a transcription factor) gene on chromosome 21 and the eight-twenty-one (ETO, a zinc finger nuclear protein) gene on chromosome 8, leading to the repression of certain AML1 target genes.

translocation


Input: The amounts of both alpha-fetoprotein mRNA and protein were decreased under hypoxic conditions in HepG2 hepatoma cells.

alpha-fetoprotein

hypoxic


Input: Given that mammographic density is associated with both IGF levels and breast cancer risk, we also stratified these associations by mammographic density.

IGF

mammographic density


Input: We conclude that Bcl-xL expressed in human HCC cells inhibits apoptosis produced by various cellular stresses, such as staurosporine treatment, serum starvation, and p53 activation, and may play an important role in their survival.

HCC

starvation


Input: When p27 inactivation has a positive effect on tumorigenesis, de-regulated activation of cyclin-dependent kinases (Cdks) is generally believed to be the underlying mechanism since the function of p27 as an inhibitor of Cdks is firmly established.

tumorigenesis


Input: Upregulation of Hsp27, Hsp90 and HspBP1 appears just in case of long-term deteriorated conditions (usually in mild preeclampsia, that enable further continuation of gestation, when properly treated).

preeclampsia


Input: RASSF1A, regarded as a TSG, has been extensively studied in lung cancer and other malignant tumors, whereas RASGRF2 has only been reported to possibly play a role in the pathogenesis of pancreatic cancer cell lines.

pancreatic cancer


Input: FGFR2 is an oncogene amplified in diffuse-type gastric cancer, and WDR11 is a tumor suppressor gene disrupted in glial tumor.

gastric cancer


Input: HCN1 channels: a new therapeutic target for depressive disorders?

depressive disorders

depressive disorders


Input: Birds exposed to a combination of LPS + BGL at 7 wk of age had significantly lower secondary total and IgG Ab responses at 13 wk of age.

BGL

secondary


Input: Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene.

GALT

Classical galactosemia

GALT

Classical galactosemia


Input: Furthermore mice lacking either tph1 or htr1B, the receptor for serotonin on the osteoblasts, were reported to have an increased bone mass due to increased bone formation.

bone mass


Input: Loss of RGS2 also significantly enhanced IL-13-induced mouse airway remodeling, including peribronchial smooth muscle thickening and fibrosis, without effects on goblet cell hyperplasia or airway inflammation in mice.

inflammation


Input: The potential role of genetic variability of GLP-1R on body weight response to GLP-1 RAs in obese women with polycystic ovary syndrome (PCOS) has not yet been evaluated.

body weight


Input: The YWHAE-FAM22 transcript was detected in six of 50 further CCSKs tested, therefore showing an overall incidence of 12% in our cohort.

YWHAE

CCSK

YWHAE

CCSK


Input: The surface density of CD10 was significantly higher on neutrophils from CINCA patients as compared to those of JIA and controls (P & lt; 0. 0005).

CINCA

CINCA


Input: Also in humans, ANGPTL4 was unmethylated and expressed in normal mammary epithelial cells, but was methylated in 11 of 91 (12%) primary breast cancers.

breast cancers

breast cancers


Input: Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

benign neonatal epilepsy

benign neonatal epilepsy


Input: Thus, HERV-K10 antibodies are detected frequently with testicular cancer and seem to resolve rapidly with effective therapy of the malignancy.

testicular cancer


Input: Additionally, we demonstrate that juvenile onset SMARD1 may also be caused by mutations of IGHMBP2.


Input: In the present study, stable overexpression of IDH1WT or IDH1R132H was established in the U87 glioma cell line.

glioma


Input: A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.


Input: Three human malignant glioma cell lines (U251, U251-NG2, and BT325) were irradiated with single doses of 0, 5, 10, and 20 grays of gamma-rays from a (137) Cs source.

malignant glioma


Input: To directly implicate HGFL in prostate tumorigenesis, TRAMP mice deficient in HGFL (HGFL-/-TRAMP +) were generated.

HGFL

tumorigenesis


Input: C3c, C3 activation status (C3c/C3 ratio) and properdin levels increased with higher lobular inflammation scores as determined according to the Kleiner classification (C3c: p < 0. 01, C3c/C3 ratio: p < 0. 05, properdin: p < 0. 05).

properdin

inflammation


Input: Thus, CLU gene expression might play a crucial role in prostate tumorigenesis by exerting differential biological effects on normal versus tumor cells through differential processing of CLU isoforms in the two cell systems.

CLU

tumorigenesis


Input: Among the congenital sideroblastic anemias (CSAs), the most common form is X-linked sideroblastic anemia, due to mutations in 5-aminolevulinate synthase (ALAS2).

X-linked sideroblastic anemia

X-linked sideroblastic anemia


Input: Airspace enlargement, goblet cell hyperplasia, increased mucin and neutrophilic infiltration were observed in lungs of the Foxa2-deleted mice.

hyperplasia


Input: In a papillary thyroid carcinoma, we identified a novel gene (ELKS), the 5' portion of which is fused to the RET gene by gene rearrangement due to the translocation t (10; 12) (q11; p13).

papillary thyroid carcinoma


Input: The most frequent ATP7B mutation was c. 2333 G & gt; T (p. Arg778Leu), followed by c. 2975 C & gt; T (p. Pro992Leu), which accounted for 63. 6% of the WND mutated alleles.

WND

WND


Input: We report a case of acute nonlymphoblastic leukemia (M5) with a rare cytogenetic abnormality involving chromosomes 8 and 16, t (8; 16) (p11; p13).

cytogenetic abnormality


Input: Loss of serotonin 5-HT (2B) receptor function may predispose to fenfluramine-associated PPH in man.

5-HT (2B) receptor

PPH

5-HT (2B) receptor

PPH


Input: The purpose of this study was to quantitatively evaluate the expression of two adiponectin receptors, AdipoR1 and AdipoR2, in gastric cancer tissue.

gastric cancer


Input: The genotyping for DRD3 and apolipoprotein E (ApoE) was determined using restriction fragment length polymorphism in 210 patients with mild DAT and 224 age-and sex-matched non-demented controls.

mild


Input: In patients with partial androgen insensitivity syndrome the type of androgen receptor mutation and responses to short-term androgen treatment can be correlated with the individual' s potential to virilize.

androgen receptor

partial androgen insensitivity syndrome

androgen receptor

partial androgen insensitivity syndrome


Input: We undertook the first comprehensive association analysis of SCNN1G and systolic pressure.

systolic pressure


Input: Treatment of these rats with IL-13R-directed cytotoxin caused a substantial decline in fibrosis and liver enzymes without organ toxicity.

fibrosis


Input: Urinary COL1A1 mRNA level is elevated in nephrotic patients irrespective to the pathological diagnosis, and it correlates with proteinuria, histological scarring, and inversely with renal function.

proteinuria


Input: B19-DNA was detected more frequently in patients with HBV-associated hepatocellular carcinoma compared to patients with acute and chronic HBV, HBV-associated liver cirrhosis and healthy subjects (P < 0. 006).

hepatocellular carcinoma


Input: These findings provided convincing evidence that epistasis between the COMT and ALDH3B1 genes plays an important role in the pathogenesis of schizophrenia.

schizophrenia

schizophrenia


Input: Leptin, an adipocyte-derived hormone, has a pivotal role in the regulation of body weight through acting on its specific leptin receptor (LEPR).

LEPR

body weight


Input: To determine if angiogenic growth factors including vascular endothelial growth factor (VEGF) and platelet-derived endothelial cell growth factor (PD-ECGF) are expressed in human paragangliomas.

endothelial cell growth factor

paragangliomas


Input: These changes in RASF appeared to be related to reduced tumor necrosis factor-α secretion, G0/G1 arrest, and altered expression of various proteins including those involved in angiogenesis (matrix metalloproteinase 9, nitric oxide synthase trafficking), hypoxia (hypoxia-inducible factor-α, thioredoxin domain containing 5), proliferation (chromosome 10 open reading frame 116), and inflammation [CCL7, chemokine (C-X-C motif) ligand 9, interleukin 26].

nitric oxide synthase trafficking

inflammation


Input: Transient overexpression of the DRBP76/NF90 protein increased both VEGF mRNA and protein levels synthesized under normoxic and hypoxic conditions.

VEGF

hypoxic


Input: SNPs were also analyzed in genes where their expression pattern or their association with syndromes conveys myopia as part of the phenotype (FGF2, BDNF, COL2A1, COL18A1, and PAX6).

myopia


Input: No statistically significant difference was found for the allelic and genotypic distributions of the polymorphisms in XRCC1 gene between mild and moderate asthmatic patients.

XRCC1 gene

mild


Input: These disorders share the feature of mood instability, so that this phenotype might be associated with genetic variation in DGKH.

DGKH

mood instability

DGKH

mood instability


Input: We report a case of leukemic transformation from myelodysplastic syndrome (MDS) with a sole chromosome abnormality of del11 (p11-13).

chromosome abnormality


Input: UGT2B15 and B17 genes were not expressed in AR negative prostate cancer cell lines, PC3 and DU145, while they were expressed in AR positive cell lines, LNCaP, LNCaP-abl (an androgen independent LNCaP sub-line), and VCaP.

prostate cancer


Input: Taken together, the results indicated that sorafenib had protective effects against renal fibrosis; its mechanism of action was associated with inhibition of macrophage infiltration via the CXCR3/CXCL11 pathway.

renal fibrosis


Input: Thus, NKX2-5 appears to be hypermutable, yet the overall detection frequency in sporadic CHD is about 2% and NKX2-5 mutations are one-time detections with single-positives or private to families.

sporadic


Input: The present study examined the possibility that ACE insertion (I)/deletion (D) functional polymorphism might be associated with particular personality traits.

ACE

personality traits


Input: Targeting of mTORC2 may have advantages over selective targeting of mTORC1 in the treatment of malignant pheochromocytoma.

malignant pheochromocytoma


Input: Results support the role of LOXL2 in selectively promoting a metastatic phenotype in breast tumor cells.

breast tumor

breast tumor


Input: Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations.

CCD

CCD


Input: Interestingly, in SKBR3 breast cancer cells, HSP90alpha promoted survival in the presence of serum but appeared to have little effect during starvation.

starvation


Input: We fine mapped this region by genotyping 11 additional polymorphic markers in the same ASP and investigated a total of 68 single nucleotide polymorphisms (SNPs) in functional candidate genes (GCK1, IL6, IGFBP1 and IGFBP3) for association with age of T2D diagnosis, age of ESRD diagnosis, duration of T2D to onset of ESRD, body mass index (BMI) in African American cases and T2D-ESRD in an African American case-control cohort.

body mass index


Input: The protein expressions were determined by immunohistochemistry in paraffin-embedded human HCC tissues and corresponding non-neoplastic tumor surrounding tissues (NTST) of 57 patients.

HCC

non-neoplastic


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

drinking


Input: This study aims to analyse the expression of Notch3, Notch4 and HES1 and HES6 as Notch-target genes in HCC, matched non-neoplastic tissue and HEPG2 cells.

non-neoplastic


Input: The P values of odds ratios to habitual smoking for CYP17A1, ESR1, EPHX1, GSTT2, ALDH2, NOS2A, OGG1, and SLC6A4 and those of odds ratios to habitual drinking for CYP1B1, ESR1, HSD17B3, GSTM3, COMT, ADH1C, ALDH2, NOS3, and NUDT1 were under 0. 05.

smoking


Input: Histological type, sex, and radiological manifestations (P-LC vs non-P-LC) but not smoking or sequencing method can be served as the independent predictor of EGFR mutations.

EGFR

smoking


Input: Measurements of resistance (tolerance) to methylating agents, mutation rate at HPRT, microsatellite instability (MSI), and steady-state levels of DNA 8-oxoguanine were used to define the MMR status of transfected clones.

MMR

microsatellite instability


Input: Since human fibrosarcoma (HT1080) cells produce little fibronectin and LC3, we used these cells to investigate how LC3-mediated Fn1 mRNA translation might alter tumor growth.

fibrosarcoma


Input: Using in vivo models and 3D ex vivo organoid cultures of mouse adenomas and human CRC, we found that Prox1 deletion reduced the number of stem cells and cell proliferation and decreased intestinal tumor growth via induction of annexin A1 and reduction of the actin-binding protein filamin A, which has been implicated as a prognostic marker in CRC.

filamin A

intestinal tumor


Input: Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

brachydactyly-syndactyly syndrome

brachydactyly-syndactyly syndrome


Input: Immunocytochemistry confirmed the vulnerability of the substantia nigra, demonstrating that there was a significant decrease in the number of NR1 and TH-positive (+) cells/mm2, as well as a decrease in the length of TH + processes, suggesting neurite atrophy.

atrophy


Input: In the present study, we evaluated the therapeutic efficacy of acetyl-l-carnitine (ALC) administration on mitochondrial dysfunction following tenth thoracic level contusion spinal cord injury (SCI) in rats.

ALC

thoracic


Input: Complete correction of hyperbilirubinemia in the Gunn rat model of Crigler-Najjar syndrome type I following transient in vivo adenovirus-mediated expression of human bilirubin UDP-glucuronosyltransferase.

bilirubin UDP-glucuronosyltransferase

adenovirus


Input: Consistent with these findings, STAT3 inhibition attenuated the hypoxic induction of VEGF.

VEGF

hypoxic


Input: The knockdown of HIF-1α under hypoxic conditions downregulated VEGF, GLUT1, and Survivin mRNA.

VEGF

hypoxic


Input: A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.

abnormalities


Input: Venous hypoxemia (but not other ischemia indicators, such as venous hypercapnia or low glucose) predicts increased Kir6. 1 (P < 0. 003) and Kir6. 2 (P < 0. 03) protein.

Kir6. 1

hypoxemia


Input: We identified alterations in the mRNA level of a wide range of genes, including some that are involved in Wnt signalling (Wnt5a, Wif1, Dixdc1, Wnt11, Ccnd1, and Ccnd2), although we did not observe nuclear localization of β-catenin in over 93 human PJS intestinal polyps or in 24 gastric polyps from Lkb1 (+/-) mice.

intestinal polyps


Input: The Chudley-Lowry syndrome (ChLS, MIM 309490) is an X-linked recessive condition characterized by moderate to severe mental retardation, short stature, mild obesity, hypogonadism, and distinctive facial features characterized by depressed nasal bridge, anteverted nares, inverted-V-shaped upper lip, and macrostomia.

MIM

anteverted nares


Input: These results indicate that the levels of expression of CtBP and p300 are critical for the action of SNAIL and ZEB1, which have a pivotal role in EMT, and show the importance of CtBP and p300 for tumor progression.

EMT

tumor progression


Input: Breast cancer resistance protein (BCRP/ABCG2) is currently the only ABC transporter that exports mono-and polyglutamates of folates and methotrexate (MTX).

mono


Input: Quercetin glucuronide prevents VSMC hypertrophy by angiotensin II via the inhibition of JNK and AP-1 signaling pathway.

angiotensin II

hypertrophy

angiotensin II

hypertrophy


Input: The TDT for allelic association demonstrated that, in male, a weak association was detected in SNP rs475827 with p = 0. 0294, suggesting that the genetic polymorphisms within PLP1 in male are likely to confer an increased susceptibility to schizophrenia in the Chinese population.

increased susceptibility to schizophrenia

increased susceptibility to schizophrenia


Input: These findings suggest that Rantes and IFN-gamma contribute to the selective accumulation of macrophages and memory T helper lymphocytes inside the granulomas and inflammatory infiltrates that are characteristic of CD.

IFN

granulomas


Input: The benefits of sc-Y733F-AAV were evident following viral administration during the active phase of retinal degeneration, where only sc-Y733F-AAV treatment achieved functional vision rescue.

AAV

retinal degeneration


Input: Immunohistochemical analysis showed that Gal-3 was predominantly expressed by mononuclear cells infiltrating into necrotic areas.

necrotic

necrotic


Input: In addition, the mean RBP serum concentration of 21 offspring of the patients with amyloidosis was significantly depressed.

RBP

amyloidosis


Input: Forebrain-specific CNB knockout mice display a spectrum of behavioral abnormalities related to altered behaviors observed in schizophrenia patients.

CNB

schizophrenia

CNB

schizophrenia


Input: Azole derivatives, ketoconazole, itraconazole, miconazole, and nonazole terbinafine hydrochloride, and tolnaftate reduced interleukin-4 and interleukin-5 secretion without altering that of interferon-gamma and interleukin-2 in anti-CD3/CD28-stimulated T cells from both atopic dermatitis patients and normal donors.

atopic dermatitis

atopic dermatitis


Input: Hb Johnstown [β109 (G11) Val → Leu, GTG > TTG] has previously been described as a high oxygen affinity variant in a heterozygous state and in combination with β (0)-thalassemia (β (0)-thal).

thalassemia


Input: Molecular analysis of the reciprocal chromosomal translocation t (12; 22) (p11. 2; q13. 3) cosegregating with a complex type of synpolydactyly showed involvement of an alternatively spliced exon of the fibulin-1 gene (FBLN1 located in 22q13. 3) and the C12orf2 (HoJ-1) gene on the short arm of chromosome 12.

chromosomal translocation


Input: Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment due to retinitis pigmentosa.

high-frequency hearing impairment


Input: Previously, we showed that trisomy 8 MDS patients had clonally expanded CD8 (+) T-cell populations that recognized aneuploid hematopoietic progenitor cells (HPC).

aneuploid


Input: Twelve SH-HCC cases occurring in individuals without metabolic syndrome were identified and examined pathologically.

HCC

metabolic syndrome


Input: We recruited 226 CVD patients (atherothrombotic infarction, lacunar infarction, and transient ischemic attack) and 301 control subjects and analyzed C242T polymorphism of p22 PHOX by detection of restriction fragment length polymorphism.

lacunar infarction


Input: Mutation in the CAAT/enhancer binding protein-α (CEBPA) gene has been reported as being one of the common genetic abnormalities in acute myeloid leukemia (AML) and is associated with a good clinical outcome.

CEBPA

abnormalities


Input: Altered emotionality and neuronal excitability in mice lacking KCTD12, an auxiliary subunit of GABAB receptors associated with mood disorders.

mood disorders

mood disorders


Input: It was recently reported that lipocalin 2 (Lcn2) is up-regulated in a wide array of malignant conditions, which facilitates tumorigenesis partly by inhibiting cell apoptosis.

tumorigenesis


Input: Whether UTR-related pathway plays a role in colon carcinogenesis is unknown.

UTR

carcinogenesis


Input: Effects of hypothyroidism on expression of CRMP2B and ARPC5 during development of the rat frontal cortex.

hypothyroidism


Input: Although substantial previous data have revealed the role of several protein tyrosine phosphatases (PTPs) in various cancers, the function of protein tyrosine phosphatase receptor R (PTPRR) and protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1) proteins in oral cavity squamous cell carcinoma (SCC) has not been studied to date.

PTPRR

oral cavity squamous cell carcinoma


Input: We also assessed 4 recently published gene associations for sudden cardiac arrest, validating NOS1AP (p = 4. 50 × 10 (-2), OR = 1. 15, 95% CI: 1. 003, 1. 326), CSMD2 (p = 6. 6 × 10 (-3), OR = 2. 27, 95% CI: 1. 681, 2. 859), and AGTR1 (p = 3. 00 × 10 (-3), OR = 1. 13, 95% CI: 1. 042, 1. 215).

sudden cardiac arrest


Input: The EWS gene, which encodes an RNA binding protein, was also shown to be involved in Ewing sarcoma, related primitive neuroectodermal tumors and desmoplastic small round cell tumors.

RNA binding protein

sarcoma


Input: The Medullary Thyroid Carcinoma was asymptomatic and the mutation of RET protooncogene has been also documented pre-operatively in all of them.

RET protooncogene

asymptomatic


Input: IGH-BCL2 translocation and CREBBP mutations are early events, whereas MLL2 and TNFSFR14 mutations represent late events during disease evolution.

translocation


Input: mRNA levels for 3-hydroxy-3-methylglutaryl-coenzyme A reductase decreased in hyperplasia and increased in HCC, whereas low-density lipoprotein receptor mRNA increased in hyperplasia and decreased in HCC.

HCC

hyperplasia


Input: To confirm these results, we stably overexpressed EDI3 in MCF-7 cells which led to elevated integrin & #946; 1 expression associated with enhanced cell attachment and spreading-two processes critical for metastasis.

metastasis

metastasis


Input: In addition, forced expression of C/EBPepsilon in the U937 myelomonoblastic leukemia cells mimicked terminal granulocytic differentiation, including morphologic changes, increased CD11b/CD66b expression, and induction of secondary granule protein expression.

leukemia


Input: Detection of new mutations in the ATP7B gene increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.

WD

WD


Input: Finally, in primary human breast cancer, NDY1/KDM2B expression correlates negatively with the expression of the NDY1-regulated miRNAs and positively with the expression of their PRC targets.

PRC

breast cancer


Input: We identified a novel KCNJ11 mutation, R50Q, that causes permanent neonatal diabetes (PNDM) without neurological problems.

PNDM

PNDM


Input: Serum follistatin was also increased in acute liver failure patients (median 2. 84 ng/ml, range 0. 57-13. 24 ng/ml) compared to normal controls (median 0. 68 ng/ml, range 0. 32-3. 70 ng/ml; 0. 01).

follistatin

acute liver failure

follistatin

acute liver failure


Input: Resistin and fractalkine (CX3CL1) are found in human atheroma and not in normal arteries.

atheroma


Input: This study investigated differences in 5-HT (4) receptor and 5-HT transporter (5-HTT) binding by quantitative autoradiography of [(3) H] SB207145 and (S)-[N-methyl-(3) H] citalopram in two murine models of depression-related states, olfactory bulbectomy and glucocorticoid receptor heterozygous (GR (+/-)) mice.

5-HT (4

depression

5-HT (4

depression


Input: By comparison, the 18: 1n-9 and 20: 4n-6 values were significantly lower in patients with regressive autism compared to controls while 22: 5n-3, total n-3 and total dimethyl acetals were significantly lower in both regressive autism and ASP groups compared to controls.

ASP

autism


Input: Although previous attempts to target therapy to colorectal cancer using the carcinoembryonic antigen (CEA) promoter have demonstrated specificity, this has been achieved at the cost of 10-to 300-fold loss in activity compared with strong but nonspecific rous sarcoma virus (RSV) or cytomegalovirus promoters.

CEA

cytomegalovirus


Input: In the majority of HNPCC families, microsatellite instability (MSI) and germline mutation in one of the DNA mismatch repair (MMR) genes are found.

MMR

microsatellite instability


Input: AMCase neutralization ameliorated Th2 inflammation and airway hyperresponsiveness, in part by inhibiting IL-13 pathway activation and chemokine induction.

AMCase

inflammation


Input: In this study, we examined the efficacy of targeted PUMA gene therapy in human oral cancer (SAS) cells using polyethylenimine (PEI)-mediated transfection for gene delivery.

SAS

oral cancer


Input: Oxalate is then excreted by the kidneys via the basolateral sat-1 (males & gt; females) and the apical CFEX (Slc26a6; GD unknown) in PT and eliminated in the urine (males & gt; females), where it may contribute to the male-prevailing development of oxalate urolithiasis.

urolithiasis

urolithiasis


Input: We found that protein kinase C epsilon is rapidly increased in the human lung adenocarcinoma cell line A549 following irradiation.

protein kinase C epsilon

lung adenocarcinoma


Input: From these data, the chromosomal abnormality of t (16; 21) (p11; q22) seems to be specifically associated with a unique subtype of ANLL.

chromosomal abnormality


Input: A specific missense mutation (c. 823C & gt; T, R275C) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia, which is quite a unique situation among the COL2A1 disorders.

Czech dysplasia

Czech dysplasia


Input: The novel adipokine chemerin, encoded by the RARRES2 gene, has been suggested to be linked to insulin resistance and to the metabolic syndrome (MetS).

RARRES2 gene

insulin resistance


Input: ROMK null mice were polyuric and natriuretic with an elevated hematocrit consistent with mild extracellular volume depletion.

ROMK

volume depletion


Input: Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: Overexpression of a DEAD box/RNA helicase protein, rck/p54, in human hepatocytes from patients with hepatitis C virus-related chronic hepatitis and its implication in hepatocellular carcinogenesis.

chronic hepatitis


Input: We demonstrate IL-6-mediated activation of STAT3 occurs in conjunction with the phosphorylation of RKIP in vitro in human colon cancer cells.

RKIP

colon cancer


Input: Because endothelial nitric oxide synthase (NOS3) activity influences homocysteine concentration and because smoking compromises NOS3 activity, genetic variation in NOS3 might interact with smoking and folic acid use in clefting risk.

smoking


Input: The other mutation is a novel one in the Japanese, an amber mutation (TGG-TAG) in codon 15, causing a beta zero-thalassemia phenotype by premature termination of the beta-globin chain synthesis.

TAG

thalassemia


Input: These new data from ncx2-/-and ncx3-/-mice may open new experimental avenues for the development of effective therapeutic compounds that, by selectively inhibiting or activating these molecular targets, could treat patients affected by cognitive impairment including Alzheimer' s, Parkinson' s, Huntington' s diseases, and infarct dementia. More importantly, knockout and knockin mice also provided new relevant information on the role played by NCX in maintaining the intracellular Na (+) and Ca (2 +) homeostasis and in protecting neurons during brain ischemia.

NCX

cognitive impairment


Input: This current study is the first to find an interaction between OPRM1 and life stress that is associated with depression.

depression

depression


Input: IMP2/p62 induces genomic instability and an aggressive hepatocellular carcinoma phenotype.

genomic instability


Input: OASIS mRNA was detected in three distinct glioma cell lines (U373, A172 and U87) and expression levels were increased upon treatment with ER stress-inducing compounds in the U373 and U87 lines.

glioma


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: Prognostic and therapeutic impact of RPN2-mediated tumor malignancy in non-small-cell lung cancer.

malignancy


Input: In this study, we designed a plasmid vector with a hypoxia-responsive element sequence incorporated into it with the phiC31 integrative system (pVHAVI) to allow long-term VEGF gene expression and to be activated under hypoxia.

VEGF

hypoxia


Input: NF-κB p65 and c-Rel subunits promote phagocytosis and cytokine secretion by splenic macrophages in cirrhotic patients with hypersplenism.

NF-κB

hypersplenism


Input: Since the genes superoxide dismutase (SOD2), myeloperoxidase (MPO), and NAD (P) H: quinone oxidoreductase 1 (NQO1) are involved in inflammation and oxidative stress, we investigated whether variants of these genes are associated with risk of ovarian cancer.

inflammation


Input: The translocation t (14; 18) IgH/BCL2 is the molecular hallmark of follicular lymphomas (FL).

translocation


Input: We genotyped six ADIPOQ SNPs, nine ADIPOR1 SNPs and six ADIPOR2 SNPs using the Sequenom technique in a hospital-based case-control study of patients with gastric cancer and cancer-free controls in the Chinese Han population.

gastric cancer


Input: In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P = 2. 5 x 10 (-13) overall; P = 6. 9 x 10 (-12) replication), and rs16892766, at 8q23. 3 (P = 3. 3 x 10 (-18) overall; P = 9. 6 x 10 (-17) replication), which tags a plausible causative gene, EIF3H.

CRC

CRC


Input: Recent studies have shown increased insulin sensitivity and resistance to obesity in PTP1B knockout mice, thus pointing to this enzyme as a potential drug target in diabetes.

increased insulin sensitivity

increased insulin sensitivity


Input: Deregulation of DUX4 and ERG in acute lymphoblastic leukemia.

acute lymphoblastic leukemia

acute lymphoblastic leukemia


Input: Epithelial-to-mesenchymal transition (EMT) contributes significantly to tumor progression and metastasis.

EMT

tumor progression


Input: In vitro transfection showed that pEpo-SV-VEGF, not pSV-VEGF-Epo, induced the VEGF expression in hypoxic cells.

VEGF

hypoxic


Input: At the end of the 28-week experiment after STZ injections, wild-type diabetic mice showed severe glomerular hypertrophy and mesangial matrix accumulation occasionally featuring nodular glomerulosclerosis.

STZ

nodular glomerulosclerosis


Input: STK39 interacts with OXSR1 and phosphorylates the sodium-chloride co-transporter (SLC12A3), which plays a critical role in regulating the salt/water balance and blood pressure.

blood pressure


Input: Using a loss-of-function genetic mouse model, we demonstrated that the lack of Mmp17 resulted in the presence of dysfunctional vascular smooth muscle cells and altered extracellular matrix in the vessel wall; and it led to increased susceptibility to angiotensin-II-induced thoracic aortic aneurysm.

thoracic aortic aneurysm


Input: Short hairpin RNA knockdown of endogenous PTPRU in human and rat glioma cell lines suppressed proliferation, survival, invasion, migration, adhesion and vasculogenic tube formation in vitro, as well as intracranial tumor progression in vivo.

PTPRU

adhesion


Input: Restoration of SP-B expression following administration of doxycycline rapidly reversed SP-B-dependent abnormalities in lung mechanics and inflammation.

SP-B

abnormalities


Input: Twenty-four ADLTE families and 140 sporadic LTE patients with no evidence of point mutations in LGI1 were screened for copy number alterations using multiplex ligation-dependent probe amplification (MLPA).

sporadic


Input: Our aim was to characterize in vitro and in vivo effects of a novel homozygous CYP11A1 gene mutation identified in a patient with an unusual presentation of P450scc deficiency.

P450scc deficiency

P450scc deficiency


Input: CDC25B is a cell-cycle regulatory protein, which is considered to be related to tumorigenesis and progression of tumours.

tumorigenesis


Input: Kallistatin is a serine proteinase inhibitor that has been shown to reduce joint swelling and to inhibit inflammation in a rat model of arthritis.

Kallistatin

joint swelling


Input: No statistically significant differences were found between the levels of IL-23, Il-22 or IL-10 in PV or ET subjects with or without thrombosis, in patients with or without pruritus, or according the JAK2V617F burden.

pruritus


Input: Variants at the FTO, TMEM18, FAIM2, RBJ, ZNF608 and QPCTL loci yielded nominal evidence for association with BMI and/or overweight risk (p < 0. 05).

overweight


Input: Studies on alpha-1 antitrypsin deficiency in white (Caucasian) COPD and non-COPD populations in 6 countries were combined to obtain estimates of the prevalence of the PIS and PIZ deficiency alleles in the combined COPD and non-COPD cohorts.

PIS

alpha-1 antitrypsin deficiency


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

bipolar disorder

bipolar disorder


Input: The epithelial-mesenchymal transition (EMT) plays a critical role in tumor progression.

EMT

tumor progression


Input: In the present study, we used NOG mice bearing primary adult T cell leukemia/lymphoma (ATLL) cells and a therapeutic chimeric anti-CCR4 mAb, the Fc region of which is defucosylated to enhance ADCC.

NOG

lymphoma


Input: Canonical WNT signals are transduced through Frizzled (FZD) family receptor and LRP5/LRP6 co-receptor to upregulate FGF20, JAG1, DKK1, WISP1, CCND1 and MYC genes for cell-fate determination, while non-canonical WNT signals are transduced through FZD family receptor and ROR2/PTK7/RYK co-receptor to activate RHOA/RHOU/RAC/CDC42, JNK, PKC, NLK and NFAT signaling cascades for the regulation of tissue polarity, cell movement, and adhesion.

adhesion


Input: Cells, derived from a mammary carcinoma and from a glioblastoma, with reduced ASAP3 expression had fewer actin stress fiber, reduced levels of phosphomyosin, and migrated more slowly than control cells.

glioblastoma


Input: Vascular endothelial growth factor (VEGF) is a family of cytokines for which the dysregulation of expression is involved in many diseases; for some, excess VEGF causes pathological hypervascularization, while for others VEGF-induced vascular remodeling may alleviate ischemia and/or hypoxia.

VEGF

hypoxia


Input: Post-stroke depression (PSD) has become a prominent negative factor of stroke recovery.

PSD

stroke


Input: Interleukin 6 may be an important mediator of trimethoprim-induced systemic adverse reaction resembling aseptic meningitis.

Interleukin 6

aseptic meningitis

Interleukin 6

aseptic meningitis


Input: Our data support that ADM may be associated with the pathophysiology of schizophrenia, although the cause of the association needs further study.

ADM

schizophrenia

ADM

schizophrenia


Input: The CC genotype of rs4633 (C/T) and the GG genotype of rs4680 (G/A) showed a significantly higher degree of PAI and the association remained positive after adjustment for age, hypertension, diabetes, smoking and drinking (p = 0. 035 and p = 0. 031, respectively).

PAI

drinking


Input: Genetic studies in the systemic sclerosis (SSc), an autoimmune disease that clinically manifests with dermal and internal organ fibrosis and small vessel vasculopathy, have identified multiple susceptibility genes including HLA-class II, PTPN22, IRF5, and STAT4 which have also been associated with other autoimmune diseases, such as systemic lupus erythematosus (SLE).

fibrosis


Input: Based on these findings, altered expression of PLP1 in most areas of the striatum suggests that widespread changes to the myelin structure could be associated with the adaptive changes following chronic cocaine abuse.

cocaine abuse

cocaine abuse


Input: To understand the functional consequence of the translocation, we determined the pattern of expression of API2 and MALT1 through B lineage differentiation.

translocation


Input: In addition, although transcript abundance of various forms of DNMT was highly correlated in normal control subjects, this coordination of DNMT isoform expression was diminished in suicide brain.

DNMT

suicide


Input: Branchio-oto-renal (BOR) and Branchio-otic (BO) syndromes are dominant disorders characterized by variable hearing impairment (HI) and branchial defects.

BOR

hearing impairment


Input: These findings suggest that LKB1 may inhibit tumorigenesis by regulating Hh signaling in certain cancers.

tumorigenesis


Input: Furthermore, we examined whether the MRP2 protein is overexpressed after experimentally induced seizures in rats, using the pilocarpine model of temporal lobe epilepsy.

temporal lobe epilepsy


Input: 4-HEB (IC (50) 48h, 75muM) showed selective toxicity towards five melanocytic melanoma cell lines SK-MEL-28, SK-MEL-5, MeWo, B16-F0 and B16-F10, which express functional tyrosinase, compared to four non-melanoma cells lines SW-620, Saos-2, PC3 and BJ cells and two amelanotic SK-MEL-24, C32 cells, which do not express functional tyrosinase.

HEB

melanoma


Input: Reduced apelin expression and serum concentration may contribute to improved insulin sensitivity beyond significant weight loss.

apelin

insulin sensitivity


Input: Epigenetic changes of HIN-1 were examined throughout the progression of carcinogenesis in esophageal squamous lesions through analysis of archived surgical specimens from patients with normal esophageal mucosa (n = 17), grade I dysplasia (n = 39), grade II dysplasia (n = 12), grade III dysplasia (n = 9), and invasive squamous esophageal cancer (n = 126).

esophageal


Input: In conclusion, we used a NASBA/ECL-based technique to quantify TF mRNA in whole blood during human endotoxemia and observed a 125-fold increase in TF mRNA levels.

ECL

endotoxemia


Input: The number of pack-years of smoking at baseline was identified to be a significant predictor of airway obstruction only in the ALDH2 * 2 allele carriers.

smoking


Input: Two paradigms of pain modulation were administered to 191 healthy participants in a random order: Conditioned Pain Modulation in response to painful stimuli (CPM (painful)) tested by the coadministration of repeated short painful heat stimuli and a conditioning tonic cold pain stimulation; and Conditioned Pain Modulation in response to nonpainful stimuli (CPM (nonpainful)) tested similarly, except for using a painless conditioning stimulation.

CPM

cold


Input: TRF assays confirmed insulin-stimulated GLUT4 translocation, which can be inhibited by PI3K (phosphoinositide 3-kinase) or Akt [also called PKB (protein kinase B)] inhibitors.

protein kinase B

translocation


Input: The aim of this study was to investigate the relationship between the β3-AR gene mutation and the prevalence of MS. A seven-year follow-up study was initiated in 2000, with 496 samples of simplex obese subjects (body mass index ≥ 25 kg/m (2)) and 248 normal-weight subjects.

AR gene

weight


Input: The GAA trinucleotide repeats in the FXN gene were analyzed by triplet repeat-primed PCR (TP-PCR) in 122 unrelated hereditary ataxia (HA) and 114 unrelated hereditary spastic paraplegia (HSP) patients.

GAA

hereditary spastic paraplegia


Input: Activating transcription factor 1 (ATF1) may be involved in essential hypertension (EH) by induction of NADPH oxidase 1 (NOX1) and radical oxygen species (ROSs) production.

transcription factor 1

essential hypertension


Input: Analyses with MAC-1 and F4/80 antibodies as well as in vivo labeling with bromodeoxyuridine demonstrate that microglia in the plaque vicinity are in an activated state and that proliferation contributes to their accumulation at the plaque periphery.

plaque


Input: Our recent results show that all-trans retinoic acid (ATRA), an active metabolite of vitamin A, induces COX-dependent hyperalgesia and allodynia in rats.

COX

allodynia


Input: We used a siRNA-mediated loss-of-function in MDA-MB-435 breast cancer cell line to study the role of the two main LMW-PTP isoforms, fast and slow, in breast cancer tumorigenesis and migration.

LMW-PTP

tumorigenesis


Input: PCI-32765 blocked RANKL/M-CSF-induced phosphorylation of Btk and downstream PLC-γ2 in OCs, resulting in diminished TRAP5b (ED50 = 17 nM) and bone resorption activity.

PLC

bone resorption


Input: DEGs also indicate overproduction of matrix proteases (MMP9, ADAM9, and ADAM19) and proteolytic enzymes (CTSG, ELA2, CPA3, TPSB2, and CMA1) that may contribute to epidermal splitting and blister formation.

blister


Input: The present work aimed at evaluating putative dysregulation of interleukin-18 (IL-18), a pro-inflammatory cytokine of the IL-1 family in the sera of patients with ASD of different grades, compared to healthy controls, as well as in postmortem brain samples obtained from patients with tuberous sclerosis as well as acute inflammatory diseases.

tuberous sclerosis


Input: Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer.

sporadic


Input: These data demonstrate that IFN-gamma suppressed tumor-induced bone loss and hypercalcemia in Tax (+) mice by inhibiting both Tax (+) tumor cell growth and host-induced osteolysis.

IFN

hypercalcemia


Input: To better elucidate the pathogenesis of lymphocyte recruitment of memory CD4 (+) T cells in inflammatory myopathies, we studied the expression of CCR5 and CCR7 on CD4 memory T cells in muscle tissue from 11 patients with juvenile dermatomyositis, six adult patients with polymyositis, two patients with Duchenne muscular dystrophy, and two patients with spinal muscular atrophy.

spinal muscular atrophy


Input: This study was conducted to investigate the significance of ATAD3A in glioblastoma multiforme (GBM).

glioblastoma multiforme


Input: To determine the chemokine receptor expression profile in gastric mucosa-associated lymphoid tissue (MALT) lymphoma, we performed an expression analysis of 19 chemokine receptors at mRNA levels by using real-time RT-PCR, as well as of five chemokine receptors--CCR8, CCR9, CXCR4, CXCR6 and CXCR7--by immunohistochemistry on human tissue samples of Helicobacter pylori-associated gastritis, gastric MALT lymphoma and gastric extranodal diffuse large B-cell lymphoma originating from MALT lymphoma (transformed MALT lymphoma).

lymphoma


Input: Using a series of DNA array membranes, we identified a group of hypoxia-induced genes that included plasminogen activator inhibitor-1 (PAI-1), insulin-like growth factor-binding protein 3 (IGFBP-3), endothelin-2, low-density lipoprotein receptor-related protein (LRP), BCL2-interacting killer (BIK), migration-inhibitory factor (MIF), matrix metalloproteinase-13 (MMP-13), fibroblast growth factor-3 (FGF-3), GADD45, and vascular endothelial growth factor (VEGF).

VEGF

hypoxia


Input: Clonal B cell expansion was assessed by two polymerase chain reaction (PCR) assays: (i) semi-nested PCR, against sequences encoding framework regions FR3, FR2 and FR1c of the variable chain IgH gene in B cells present in the MSG infiltrate; and (ii) the PCR-enzyme-linked immunosorbent assay (ELISA) technique, against the major and minor breakpoint regions of the Bcl-2 oncogene coupled with a variable segment of the IgH to assess the Bcl-2/JH translocation.

translocation


Input: AIM, SETTING AND DESIGN: In the present study, we examined the association of the GSTM1 and GSTT1 gene polymorphisms with sporadic prostate cancer patients in north Indian population.

sporadic


Input: The present study suggests that the BstB I polymorphism of PTH gene is closely related to bone mineral density and that PTH gene polymorphisms do not seem to affect the development of primary hyperparathyroidism but may relate to the severity of primary hyperparathyroidism.

PTH gene

bone mineral density


Input: Here we studied the expression of NKR (i. e., NKG2C, NKG2A, LILRB1, CD161) and the frequency of the NKG2C gene deletion in children with past congenital infection, both symptomatic (n = 15) and asymptomatic (n = 11), including as controls children with postnatal infection (n = 11) and noninfected (n = 20).

asymptomatic


Input: No evidence of novel GATA4 and NKX2. 5 mutations was found both in sporadic and familial patients.

NKX2. 5

sporadic


Input: Nuclear transport of the viral tegument protein VP16, transport of viral capsids to the nuclear pore, and downstream events (including expression of immediate-early genes and viral plaque formation) were substantially reduced in cells transfected with dominant-negative mutants of FAK or small interfering RNA designed to inhibit FAK expression.

FAK

plaque


Input: We found that recombinant Hsp90 expression in the ischemic region of the heart led to a 33% reduction in infarct size and prevented the increase in postischemic left ventricular end diastolic pressure observed in mock-transfected animals.

infarct


Input: Finally, we found that SMARCA2 interactors and the genome-wide supported SZ-associated genes are considerably enriched in genes displaying positive selection in primates and in the human lineage which suggests the occurrence of novel protein interactions in primates.

SZ

SZ


Input: In defining the functional relevance of STS induction in metabolic disease, we showed that overexpression of STS in the liver of transgenic mice alleviated HFD and ob/ob models of obesity and type 2 diabetes, including reduced body weight, improved insulin sensitivity, and decreased hepatic steatosis and inflammation.

STS

hepatic steatosis

STS

hepatic steatosis


Input: However, the existence of CSCs in U87, a most commonly used glioma cell line, is still controversial.

glioma


Input: The findings indicate that the three-way translocation involved BCL2, IGH, and BCL6 and that the der (3) t (3; 16) (q27;?)

translocation


Input: Decreased expression of dermatopontin was also associated with keloid formation, a fibrotic disease that shares epidemiologic similarities with leiomyoma.

dermatopontin

keloid formation


Input: Six SNPs from the first of three COMT/TXNRD2 haploblocks interacted with depressive symptoms on TMD pain (smallest p-value: 2. 7 & #215; 10 (-10)).

depressive symptoms

depressive symptoms


Input: The discovery of activation-induced cytidine deaminase (AID) and the use of murine models to study translocation have led to a new understanding of how these events contribute to the genesis of lymphomas.

AID

translocation


Input: Moreover, OPN-c Mu showed the strongest effect on glioma cell invasion, while OPN-b Mu showed no effect on the invasion of U251 and U87 cells.

glioma


Input: In this study, we explored if the protein phosphatase PP6 is involved in DSB repair by depletion of its expression in human cancer cell lines, and determined PP6 expression in human breast cancer tissues by immunohistochemistry staining.

breast cancer


Input: To determine whether neuroadaptations that produce anhedonia subsequently affect vulnerability to stress-induced behavioral adaptations, we subjected rats with altered CREB function in the NAS to fear conditioning.

CREB

anhedonia


Input: Tumors originated from Tm1G3 were larger in tumor volume with enlarged functional vessels, decreased necrotic areas, and increased vascular endothelial growth factor (VEGF) protein levels.

VEGF

necrotic


Input: These data suggest that the level of anti-RHA diminishes over time, and that anti-RHA is regulated via a mechanism different from that for other lupus-related autoantibodies.

RHA

lupus


Input: Hypomethylation of MOS in GC tissues was associated with tumour invasion, nodal metastasis, and undifferentiated histology (p < 0. 05).

MOS

metastasis


Input: Our study demonstrated that three candidate pancreatic ductal adenocarcinoma biomarkers identified in previous studies, fructose-bisphosphate aldolase A, alpha-smooth muscle actin and vimentin, were also overexpressed in pancreatic cystadenoma, which might lower their further utility as biomarkers for pancreatic cancer.

smooth muscle actin

pancreatic cystadenoma


Input: We used homozygosity mapping in two families with autosomal-recessive short-rib polydactyly syndrome Majewski type to identify mutations in NEK1 as an underlying cause of this lethal osteochondrodysplasia.

short-rib polydactyly syndrome Majewski type

short-rib polydactyly syndrome Majewski type


Input: In this study, normal colon and colonic lesions (hyperplastic polyp, adenoma, and colonic adenocarcinoma) were examined by immunohistochemistry using antibodies against Hh signalling molecules: the secreted protein Sonic hedgehog (SHH), its receptor Patched (PTCH), and the PTCH-associated transmembrane protein Smoothened (SMOH).

SMOH

hyperplastic polyp


Input: The effectiveness of combined chemoimmunotherapy with ifosfamide derivative CBM-4A and granulocyte-macrophage colony-stimulating factor (GM-CSF) was investigated in two experimental tumor models, 3MC-induced MHC class I + sarcoma Mc12 and HPV16 E6/E7 oncogene-induced MHC class I-carcinoma MK16, transplanted in syngeneic mice.

granulocyte-macrophage colony-stimulating factor

sarcoma

granulocyte-macrophage colony-stimulating factor

sarcoma


Input: The expression of ERbeta in the liver of 42 patients with HCC (10 with paired extratumoral tissues) and 26 with chronic liver disease without HCC was studied by a reverse transcriptase-polymerase chain reaction method, and correlated with the expression of ERalpha and severity of the liver disease.]

HCC

liver disease


Input: Some recurrent cytogenetic abnormalities, such as t (8; 16) (p11; p13), are so rare that collaborative studies are required to define their prognostic impact.

cytogenetic abnormalities


Input: We have cloned and characterized human WNT2B/WNT13, WNT3, WNT3A, WNT5B, WNT6, WNT7B, WNT8A, WNT8B, WNT10A, WNT10B, WNT11, WNT14 and WNT14B/WNT15 using bioinformatics and cDNA-PCR, and also reported frequent up-regulation of WNT2 in primary gastric cancer.

gastric cancer


Input: Inhibition of the FKBP family of peptidyl prolyl isomerases induces abortive translocation and degradation of the cellular prion protein.

prion protein

translocation


Input: The lack of GPI-anchored complement regulatory proteins, such as decay-accelerating factor (DAF) and CD59, results in complement-mediated hemolysis and hemoglobinuria.

GPI

hemolysis


Input: Clonal TCR gamma gene rearrangements were found in 66% of patch/plaque-stage MF and 100% of tumor-stage MF and pleomorphic CTCL, but not in any of 10 pseudo-T-cell lymphomas studied.

TCR gamma gene

plaque


Input: Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.

mulibrey nanism

mulibrey nanism


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

urocortin III

inflammation

urocortin III

inflammation


Input: Severe sepsis resulted in a 42. 4-fold increase in median GAPDH expression (P < 0. 001), whereas median HPRT expression was raised more modestly (2. 9-fold; P < 0. 001), and there was no significant difference in SDHA expression between sepsis and control patients.

SDHA

sepsis


Input: We determined the effect of forced CAR expression on the invasion and growth of the human glioma cell line U87-MG, which does not express any CAR.

glioma


Input: We examined the possible contribution to cocaine dependence of 16 genes involved in the cellular machinery that controls neurotransmitter release: genes encoding proteins of the SNARE complex (STX1A, SNAP25, VAMP1 and VAMP2), fusion control elements (SYT1, SYT2, CPLX1, CPLX2, CPLX3 and CPLX4) and regulatory elements (STXBP1, SYP, SNPH, NSF, NAPA and RAB3A).

cocaine dependence


Input: The higher mRNA expressions of TLR2, TLR4 and CSF2, and the lower mRNA expression of LY64 were detected in chronic periodontitis patients.

chronic periodontitis


Input: Increased TNF-alpha or IL-8 expression in the placenta was associated with intrauterine growth retardation but not with preterm delivery.

preterm delivery


Input: RELM-β has the potential to contribute to airway remodelling in diseases such as asthma by acting on epithelial cells to increase proliferation, mucin and growth factor production, at least partly via ERK/MAPK-PI3K/Akt signalling pathways.

airway remodelling


Input: The aim of the present study was to investigate the relationship between G protein beta3 polymorphisms and clozapine-induced body weight change in a Chinese population during long-term treatment.

body weight change