Input: We investigated mechanisms contributing to R5 envelope glycoprotein (Env)-mediated cellular apoptosis by constructing a panel of retroviral vectors engineered to co-express GFP and R5 Envs derived from two HIV-1-infected subjects spanning asymptomatic (Early, E-R5 Envs) to late stages of infection (Late, L-R5 Envs).

envelope glycoprotein

asymptomatic


Input: FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.

FUS

sporadic


Input: Analyzing the risk of variant LIG4 Ile658Val genotypes for cervical carcinoma of different histologic types or HPV infection status, we found striking similarities between the squamous cell carcinoma group and the HPV-positive group and the overall carcinoma.

carcinoma


Input: The t (14; 18) translocation (MBR bcl-2-JH) and IgH rearrangement (FR3/JH) were detected by polymerase chain reaction (PCR) in peripheral mononuclear cells.

translocation


Input: The t (12; 21) translocation that generates the ETV6-RUNX1 (TEL-AML1) fusion gene, is the most common chromosomal rearrangement in childhood cancer and is exclusively associated with B-cell precursor acute lymphoblastic leukemia (BCP-ALL).

translocation


Input: F. prausnitzii, B. longum and F. prausnitzii supernatant clearly facilitated the induction of IL-10 and TGF-β1, while induced relatively mild production of IL-12p70 in both cellular and animal models.

mild


Input: RNA expression levels of CDC2L1, CDC2L2, CCNL1, CCNL2, CSNK2A1, CSNK2A2, and CSNK2B genes in breast cancer subtypes were analyzed.

breast cancer


Input: Recent analyses of autosomal dominant Char syndrome, which includes, with variable penetrance, patent ductus arteriosus as well as craniofacial and hand malformations, have shown that the syndrome is caused by mutations in the TFAP2B transcription factor gene.

malformations


Input: This preliminary report suggests that DNA ploidy does not appear to provide any additional information concerning responsiveness to IL-2 based immunotherapy beyond that obtained by performance status and pretreatment weight in this patient population.

weight


Input: In total, our findings indicate that cisplatin and doxorubicin can repress hypoxic induction of VEGF expression by inhibiting HIF-1 through different mechanisms.

VEGF

hypoxic


Input: Using a dual adenovirus system, we have reexpressed ARHI in ovarian cancer and breast cancer cells that have lost ARHI expression.

ARHI

adenovirus


Input: To study the in vivo role of CCR7 in a novel model of pulmonary fibrosis, 1. 0 x 10 (6) primary fibroblasts grown from idiopathic pulmonary fibrosis/usual interstitial pneumonia, nonspecific interstitial pneumonia, or histologically normal biopsies were injected intravenously into C. B-17 severe combined immunodeficiency (SCID)/beige (bg) mice.

severe combined immunodeficiency


Input: YY1 immunoreactivity in human colon tumor samples was found more intense in poorly differentiated tumors than in moderately and well differentiated colon cancers and lower expression levels tended to be associated with shorter survival.

colon tumor


Input: Study in xenografted mice further showed that CD24 (-) CD44 (+) Grp78 (+) cells exhibited highest tumorigenesis, compared with CD24 (-) CD44 (+) CD24 (+) CD44 (+) or the parental cells.

tumorigenesis


Input: The autosomal dominant, giant-platelet disorders, May-Hegglin anomaly (MHA; MIM 155100), Fechtner syndrome (FTNS; MIM 153640) and Sebastian syndrome (SBS), share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions (' Döhle-like' bodies).

MIM

platelet disorders


Input: Furthermore, concurrent CXCR4 + and BCL2 translocation showed dismal outcomes resembling but independent of MYC/BCL2 double-hit DLBCL.

translocation


Input: Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.

Dejerine-Sottas disease

Dejerine-Sottas disease


Input: We then analyzed metallothionein, RCAS1, CD25, CD4, and CD68 in a sampling of 50 nasal polyps using the immunohistochemistry method.

nasal polyps


Input: Adolescents with early signs of diabetic angiopathy have defective IAP and activity, which are not modified by vitamin E.

IAP

diabetic angiopathy


Input: The hallmarks of Lynch syndrome (LS) include a positive family history of colorectal cancer (CRC), germline mutations in the DNA mismatch repair (MMR) genes, tumours with high microsatellite instability (MSI-H) and loss of MMR protein expression.

MMR

microsatellite instability


Input: Dopaminergic neuronal loss, reduced neurite complexity and autophagic abnormalities in transgenic mice expressing G2019S mutant LRRK2.

abnormalities


Input: We show here that the members of the mixed lineage kinase (MLK) family (including MLK1, MLK2, MLK3, and dual leucine zipper-bearing kinase (DLK)) are expressed in FaO rat hepatoma cells and are likely to act between p38 and TGF-beta receptor kinase in death signaling.

leucine zipper-bearing kinase

hepatoma


Input: CRF resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (L-FABP), and CPT1A.

CRF

CRF


Input: VZV recombinants with mutations preventing ORF11 protein binding to ORF9 protein had no effect on 6-day growth kinetics based on plaque numbers, but plaque sizes were reduced in vitro.

plaque


Input: Treatment with hrACE2 increased plasma ACE2 activity, normalized blood pressure, and reduced the urinary albumin excretion in Akita Ins2 (WT/C96Y) mice in association with a decreased glomerular mesangial matrix expansion and normalization of increased alpha-smooth muscle actin and collagen III expression.

smooth muscle actin

blood pressure


Input: Therefore, we constructed a new B7-H3 deficient mouse strain (B7-H3 KO) and evaluated the functions of B7-H3 in the regulation of Th1, Th2, and Th17 subsets in experimental autoimmune encephalomyelitis (EAE), experimental asthma, and collagen-induced arthritis (CIA); these mouse models were used to predict human immune responses in multiple sclerosis, asthma, and rheumatoid arthritis, respectively.

asthma


Input: Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

spondyloepimetaphyseal dysplasia, Strudwick type

spondyloepimetaphyseal dysplasia, Strudwick type


Input: We screened a family with inherited ATS for the mutation in KCNJ2, using direct DNA sequencing.

ATS

ATS


Input: The effects of olmesartan or nifedipine on blood pressure (BP), bladder blood flow (BBF), urodynamic parameters, tissue levels of malondialdehyde (MDA), nuclear factor erythroid 2-related factor 2 (Nrf2), and nerve growth factor (NGF) were measured in the bladder.

blood pressure


Input: A mutation in the c-fos gene associated with congenital generalized lipodystrophy.

c-fos

congenital generalized lipodystrophy

c-fos

congenital generalized lipodystrophy


Input: To evaluate the impact of dihydrofolate reductase (DHFR) and reduced folate carrier (RFC) genes on methotrexate (MTX) resistance in osteosarcoma cells in relation to retinoblastoma (RB1) gene status.

MTX

retinoblastoma


Input: We suggest that high levels of DEFAS, DEFA6 (key elements in adenoma formation), MMP7 (marker of colon cancer onset and progression to metastasis), SPP1 (marker of progression) and IL8 could be used to diagnose an early stage colon cancer and to evaluate the prognostic of progression for colon tumors.

metastasis


Input: Similarly, OCT2 (& #8764; 2-fold) and OCT3 (& #8764; 3-fold) showed increased protein expression in the kidneys of obese patients compared with those of nonobese individuals.

obese

obese


Input: Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.

hyper-IgE syndrome

hyper-IgE syndrome


Input: Coadministration of roscovitine and ABT-737 untethers Bak from Mcl-1 and Bcl-xL, respectively, triggering Bak activation and Bax translocation.

translocation


Input: Fifteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients.

ALDOB

HFI

ALDOB

HFI


Input: The insulin resistance atherosclerosis study (IRAS) objectives, design, and recruitment results.

IRAS

insulin resistance


Input: We found that HCC and adjacent non-neoplastic cirrhotic tissue have considerable overlap in gene expression patterns compared to normal liver.

HCC

non-neoplastic


Input: In a double-blind clinical trial, 50 healthy volunteers were evaluated for minimal erythema dose of UVB irradiation, MED (J/cm2), skin types were assigned, and internal standard-controlled polymerase chain reaction (PCR) was used to identify their GST T1 and GST M1 genotypes.

GST

blind


Input: The results obtained indicate that alpha6beta1 is necessary for VEGF expression because the ability of hypoxia to activate HIF-1 and to stimulate VEGF transcription in MDA-MB-435 cells is dependent on alpha6beta1 expression by a mechanism that involves protein kinase C-alpha.

VEGF

hypoxia


Input: Severe Meesmann' s epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.

keratin 12

Meesmann' s epithelial corneal dystrophy

keratin 12

Meesmann' s epithelial corneal dystrophy


Input: Inflammation in the respiratory tract of PM10sum-treated mice has been confirmed in BALf and lung parenchyma by increased PMNs percentage, increased ET-1, MPO and cytokines levels.

MPO

Inflammation

MPO

Inflammation


Input: Premitotic destruction of PLK1 disrupts centrosome separation, causing mitotic spindle asymmetry, merotelic microtubule-kinetochore attachments, lagging chromosomes, and aneuploidy.

aneuploidy


Input: t (14: 18) (q32: q21)/IGH-BCL2 was detected in 50 of 71 (70%) cases and the presence of the translocation was not associated with the poor performance of IGH assays.

translocation


Input: Sequencing demonstrated mutation in the NH2-terminal ATPase domain of HSC70 in 2 of 15 sporadic breast carcinomas examined.

sporadic


Input: Transgenic mice overexpressing OCZF (OCZF-Tg) under the control of the cathepsin K promoter were generated, and bone mineral density and bone histomorphometric features were determined by peripheral quantitative computed tomography, calcein double-labeling, and specific staining for osteoclasts and osteoblasts.

cathepsin K

bone mineral density


Input: Ad-mda7 does not alter cell surface Her-2/neu levels, but the combination of Ad-mda7 + Herceptin results in increased expression of cell surface E-cadherin with concomitant translocation of beta-catenin from the nucleus to the cell membrane.

E-cadherin

translocation


Input: The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.

Hajdu-Cheney syndrome

Hajdu-Cheney syndrome


Input: However, patients with autism/ASP, who had taken EPA supplements, had significantly reduced PLA2 concentrations compared to unsupplemented patients with classical autism or ASP.

ASP

autism


Input: On the basis of the gene expression data, the IL6 gene was identified as a potential candidate for tacrine transaminitis susceptibility.

IL6 gene

transaminitis


Input: Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.

GNE

Distal myopathy with rimmed vacuoles

GNE

Distal myopathy with rimmed vacuoles


Input: Loss of Fhit protein activity causes replication stress through reduced Thymidine Kinase 1 expression, increased DNA breaks, and global genome instability in normal and cancer cells.

Thymidine Kinase 1

genome instability


Input: We describe a female subject (DGAP100) with a 46, X, t (X; 5) (p11. 3; q35. 3) inv (5) (q35. 3q35. 1) dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures, facial dysmorphia and cleft palate.

hypotonia


Input: GHRHR P9 together with 4 GH1 SNP genotypes contributed to 6 · 2% of height-SDS variation in the entire 308 NAHC.

height


Input: In this report, we determined how VEGF expression and release from these melanoma cell lines were affected by the following important factors associated with melanoma initiation and progression: hypoxia, UVR, activated Ras, dominant negative p53, and culture conditions mimicking radial growth phase melanoma (monolayer culture) and vertical growth phase melanoma (spheroid culture).

VEGF

hypoxia


Input: The parameters of disease activity index (DAI), percentage of positive serum anti-dsDNA antibodies, proteinuria and hematuria, and frequency of glomerular thrombi were all higher in patients with-592 AC/CC genotypes than those with AA genotype.

DAI

hematuria


Input: At 12 h after dose intake, the regression model predicted a 5. 1-fold higher olanzapine plasma level in a non-smoking female patient who did not carry the UGT1A4 142T > G SNP compared to a smoking man treated with the same dose but heterozygous for UGT1A4 142T > G SNP.

regression


Input: De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.

recurrent sinopulmonary infections


Input: Our results demonstrate that Bcl-2 and Bcl-xL antisense treatment facilitates apoptosis in mesothelioma cells and suggest the use of Bcl-2/Bcl-xL bispecific antisense treatment in combination with cisplatin or gemcitabine for therapy of malignant pleural mesothelioma.

Bcl-xL

mesothelioma


Input: However, during the preclinical and clinical trials of S1P1 modulators, the undesired activation of S1P3, a subtype of sphingosine 1-phosphate (S1P) receptors family, by S1P1 modulators often results in bradycardia in patients.

bradycardia


Input: The expression of 4 thyroid tissue-specific genes [Na +/I-symporter (NIS), thyroid peroxidase (TPO), thyroglobulin (Tg), TSH receptor (TSH-R)] as well as of the glucose transporter type 1 (Glut1) gene was analyzed in 90 human thyroid tissues Messenger ribonucleic acids were extracted from 43 thyroid carcinomas (38 papillary and 5 follicular), 24 cold adenomas, 5 Graves' thyroid tissues, 8 toxic adenomas, and 5 hyperplastic thyroid tissues; 5 normal thyroid tissues were used as reference.

cold


Input: These findings indicate that NO-ASA profoundly inhibits both the expression and enzymatic activity of NOS2 and suggest that these effects may represent an important mechanism for the colon cancer chemopreventive effect of NO-ASA.

colon cancer

colon cancer


Input: Tumor Necrosis Factor Receptor Super Family 6 gene (TNFRSF6), also known as FAS, encodes the Fas antigen, a cell surface receptor mediating cell apoptosis, situated on chromosome 10q located near the region of linkage to sporadic Alzheimer' s disease (sAD).

Fas antigen

sporadic


Input: The caspase recruitment domain gene CARD15/NOD2, encoding a cellular receptor involved in an NF-kappaB-mediated pathway of innate immunity, was first identified as a major susceptibility gene for Crohn' s disease (CD), and more recently, as responsible for Blau syndrome (BS), a rare autosomal-dominant trait characterized by arthritis, uveitis, skin rash and granulomatous inflammation.

NF-kappaB

uveitis


Input: Previous studies suggest that the effects of EGR1 on tumorigenesis are critically dependent on the cellular context.

tumorigenesis


Input: CD97 was expressed by 44 of 50 gastric, 14 of 18 pancreatic, and 10 of 13 esophageal carcinomas.

esophageal


Input: Primary monophasic synovial sarcoma of the duodenum with SYT/SSX2 type of translocation.

translocation


Input: Fused in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein.

RNA binding protein

sarcoma


Input: Our findings suggest that UCP2 and UCP4 have a modest but important involvement in the genetic etiology of schizophrenia.

schizophrenia

schizophrenia


Input: We identify 2 groups of PVNS and TGCT cases by the presence of CSF1 translocation and CSF1 expression.

translocation


Input: Furthermore, we found that GluK4 is a key mediator of excitotoxic neurodegeneration: GluK4 knockout mice showed robust neuroprotection in the CA3 region of the hippocampus following intrahippocampal injection of kainate and widespread neuroprotection throughout the hippocampus following hypoxia-ischemia.

ischemia


Input: Serum samples collected from HCCLM3-R metastatic HCC tumor model at specific stages of metastasis (1 wk, 3 wks and 6 wks) were subjected to iTRAQ labeling followed by 2DLC-ESI-MS/MS analysis.

ESI

metastasis


Input: These include BCL1/cyclin D1 translocation in mantle cell lymphoma, BCL2 in follicular lymphoma and BCL6 in diffuse large B-cell lymphoma.

translocation


Input: Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome.

Muir-Torre syndrome

Muir-Torre syndrome


Input: The poliovirus receptor related-1 (PVRL1) gene encodes nectin-1, a cell-cell adhesion molecule (OMIM #600644), and is mutated in the cleft lip with or without cleft palate/ectodermal dysplasia-1 syndrome (CLPED1, OMIM #225000).

poliovirus receptor

ectodermal dysplasia


Input: Deletion of Gly723 in the insulin receptor substrate-1 of a patient with noninsulin-dependent diabetes mellitus.

insulin receptor substrate-1

noninsulin-dependent diabetes mellitus

insulin receptor substrate-1

noninsulin-dependent diabetes mellitus


Input: A polymorphism in the SLC30A8 gene is associated with susceptibility to type 2 diabetes, although the molecular mechanism through which this phenotype is manifest is incompletely understood.

type 2 diabetes

type 2 diabetes


Input: Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation.

RET proto-oncogene

multiple endocrine neoplasia type 2B

RET proto-oncogene

multiple endocrine neoplasia type 2B


Input: Duarte galactosemia is a mild to asymptomatic condition that results from partial impairment of galactose-1-phosphate uridylyltransferase (GALT).

galactose-1-phosphate uridylyltransferase

mild


Input: We demonstrate further that knocking down Cat-1 from NIH3T3 fibroblasts expressing an activated form of Cdc42 (Cdc42 F28L), or from the human cervical carcinoma (HeLa) cell line, inhibits the ability of these cells to form colonies in soft agar, an in vitro measure of tumorgenicity.

cervical carcinoma


Input: This suggests similarities in the mechanisms promoting genomic instability for BRCA1-and BRCA2-associated tumours, possibly relating to deficiency in DNA repair through homologous recombination.

genomic instability


Input: Insulin-induced gene 2 involvement in human adipocyte metabolism and body weight regulation.

Insulin-induced gene 2

body weight


Input: Our aim was to expand these searches by looking for mutations in the death domains of FAS, FADD, TNFR, TRADD, and RIP, in the promoter region of FAS, and in the protease domain of caspase 10, in a larger variety of hematological malignancies, some of which express an apoptosis-resistant phenotype.

FADD

hematological malignancies


Input: Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

dominant optic atrophy

dominant optic atrophy


Input: In addition, the NCCT genotype was a significant predictor of blood pressure, with homozygous mutant family members having significantly lower age-and gender-adjusted systolic and diastolic blood pressures than those of their wild-type relatives.

NCCT

blood pressure


Input: The frequency of pes cavus, scoliosis, axonal sensory neuropathy and areflexia increased with the size of GAA1, whereas some signs such as sphincter disturbances, cerebellar atrophy on MRI, amyotrophy, dysarthria and decreased vibration sense were associated with increased duration of the disease.

amyotrophy


Input: In infants with Down syndrome, concentrations of IL-8 levels were higher than in controls, whether or not corrected for total protein; NT-3 and CGRP were lower and VIP higher.

Down syndrome

Down syndrome


Input: Among the components of metabolic syndrome, subjects with high waist circumference or decreased high-density lipoprotein cholesterol had significantly increased serum AGF (271. 92 vs 313. 68 ng/mL, P =. 013; 271. 01 vs 310. 58 ng/mL, P =. 023, respectively).

AGF

waist circumference


Input: The aim of this study was therefore to examine the impact of G72 rs746187 and DAAO rs2111902 genotypes on brain function in schizophrenia, bipolar disorder and healthy volunteers.

DAAO

bipolar disorder

DAAO

bipolar disorder


Input: Our results show that PDT-induced necrosis is dependent on RIP3, which forms aggregates and colocalizes with RIP1 following photosensitization.

photosensitization


Input: Somatization was evaluated using the respective subscale of the Symptom Checklist SCL-90-R. Six monoaminergic genes were identified showing an involvement in pain perception and somatization according to the literature: COMT, HTR2A, SLC6A2, SLC6A4, DRD4, and TPH1.

somatization


Input: The t (14; 18) chromosomal translocation of human follicular lymphoma recombines the candidate transforming gene bcl-2, located at 18q21, with the immunoglobulin (Ig) H-chain joining region (JH) at 14q32.

chromosomal translocation


Input: To evaluate FOXP3 polymorphisms (rs3761549, rs3761548, rs2232368, rs2232366, and rs2280883) in a group of infertile women with and without endometriosis and controls.

infertile


Input: Seven cases of large cell lymphoma (LCL) developing simultaneously or secondarily to lymphocyte-predominant Hodgkin' s disease (nodular paragranuloma [NP]) were investigated for the presence of Epstein-Barr virus genomic material and the chromosomal translocation t (14; 18) involving the major breakpoint region of the bcl-2 gene using the polymerase chain reaction on paraffin-embedded material.

bcl-2 gene

chromosomal translocation


Input: These results suggest that excitatory afferent signals from the peripheral vestibular receptors, resulting from acute hypotension, release glutamate into postsynaptic neurons in the vestibular nuclei and the excitatory signals are transmitted through the GluR1 subunit of the AMPA receptors and the NR2B subunits of the NMDA receptors in the vestibular system.

hypotension

hypotension


Input: Clinical, colposcopic and morphological evaluation of the localization of VIN and vulvar carcinoma stage I concomitant with intraepithelial neoplasia in other parts of the lower genital tract.

VIN

intraepithelial neoplasia


Input: To investigate the role of the inducible 70-kDa heat shock protein (HSP70) in skeletal muscle atrophy and subsequent recovery, soleus (SOL) and extensor digitorum longus (EDL) muscles from overexpressing HSP70 transgenic mice were immobilized for 7 days and subsequently released from immobilization and evaluated after 7 days.

EDL

skeletal muscle atrophy


Input: Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice.

respiratory distress syndrome


Input: Ex vivo analysis of human T lymphotropic virus type 1-specific CD4 + cells by use of a major histocompatibility complex class II tetramer composed of a neurological disease-susceptibility allele and its immunodominant peptide.

neurological disease


Input: Our results show that Amerindians do not have association of PPAR-γ2 Ala12 and obesity; the latter was measured by waist circumference values after taken specific Amerindian normal waist parameters.

PPAR

waist circumference


Input: RESULTS: Within the hypoxic perinecrotic tumor area, the apoptotic fraction of endothelial cells was positively correlated with VEGFA expression (p < 0. 001).

VEGFA

hypoxic


Input: Multiple cutaneous and uterine leiomyomata syndrome (MCUL; MIM 150800) is a rare condition that sometimes predisposes to renal cancer.

MIM

uterine leiomyomata


Input: Western analysis performed on cellular fractions of resting cells and of TPA-activated cells revealed abundant expression of classical PKC-alpha (cPKC-alpha), cPKC-betaII, and atypical PKC-zeta isoforms and identified a sustained translocation of cPKC-alpha and cPKC-betaII from the cytosolic compartment to membranes.

PKC-zeta

translocation


Input: Increased concentrations in S100A8 (Calgranulin A), salivary proline-rich peptide P-C, and lysozyme C were detected in BALFs of asymptomatic smokers when compared to nonsmokers, whereas salivary proline-rich peptide P-D and Clara cell phospholipid-binding protein (CC10) were reduced in their concentration.

Calgranulin A

asymptomatic


Input: High-molecular-weight splice variants of the CD44 transmembrane protein family have been implicated in tumorigenesis and metastasis formation.

weight


Input: Moreover, we observed evidence that DDB2 functions as a barrier for EMT induced by hypoxia and TGF-β.

TGF-β

hypoxia


Input: The objective of the present study is to compare molecular analysis of angiogenetic factors with microvessel density (MVD) in bladder carcinoma.

MVD

bladder carcinoma


Input: We did not detect MEN 2 associated RET mutations in any family, but missense VHL gene mutations (V155L and R238W) were identified in two kindreds with no clinical evidence of VHL disease.

VHL

VHL

VHL

VHL


Input: We conclude that mutations in EFNB1 cause CFNS.

CFNS

CFNS


Input: Gene-gene and gene-sex epistatic interactions of MiR146a, IRF5, IKZF1, ETS1 and IL21 in systemic lupus erythematosus.

systemic lupus erythematosus

systemic lupus erythematosus


Input: We evaluated associations between smoking and incident colorectal cancer, overall and by microsatellite instability (MSI) phenotype (MSI-high vs MSI-low or microsatellite stable), CpG island methylator phenotype (CIMP positive or CIMP negative), and BRAF mutation status (BRAF mutation positive or BRAF mutation negative), among 37 399 participants in a population-based cohort study (the Iowa Women' s Health Study).

BRAF

smoking


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

LEPR

weight


Input: Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or SAMHD1.

chilblain lupus

chilblain lupus


Input: The RNA-binding motif (RRM) gene on Y chromosome (RBMY), encoding a male germ cell-specific RNA-binding protein associated with spermatogenesis, was found inserted by hepatitis B virus (HBV) DNA in one childhood hepatocellular carcinoma (HCC).

RNA-binding protein

childhood hepatocellular carcinoma


Input: Novel role of IL-13 in fibrosis induced by nonalcoholic steatohepatitis and its amelioration by IL-13R-directed cytotoxin in a rat model.

fibrosis


Input: Recent investigations suggest a link between aggression in people with intellectual disabilities the functionality of the serotonin transporter.

serotonin transporter

aggression


Input: Furthermore, we found the mRNA level of hypoxia-inducible factors 1α (HIF-1α) (1. 54 ± 0. 13 fold in PC-3, p = 0. 002, 1. 62 ± 0. 12 fold in LNCaP, p = 0. 001) and HIF-1β (1. 67 ± 0. 23 fold in PC-3, p = 0. 007; 1. 75 ± 0. 26 fold in LNCaP, p = 0. 008) were upregulated in prostate cancer bone metastasis PC-3 and LNCaP cell lines in response to hypoxia, and revealed that the regulation of VEGF by HIF-1α and HIF-1β was possibly mediated by the activation of phosphatidylinositol 3-kinase pathway.

VEGF

hypoxia


Input: In non-neoplastic mucosa, maspin was expressed in cytoplasm and cell membrane of foveolar epithelia, fundic glandular cells and pyloric glandular cells.

maspin

non-neoplastic


Input: SNAP-23 and VAMP-3 contribute to the release of IL-6 and TNFα from a human synovial sarcoma cell line.

SNAP

synovial sarcoma


Input: Here, we show that a human X-chromosomal neurological disorder characterized by intellectual disability and microcephaly is caused by a missense mutation in eIF2γ (encoded by EIF2S3), the core subunit of the heterotrimeric eIF2 complex.

neurological disorder


Input: Two weeks after the aneurysm induction procedure, ETBR was rarely detected in anterior cerebral artery-olfactory artery bifurcations, but it was weakly expressed in experimental cerebral aneurysms at 1 month after the procedure, and markedly expressed at 3 months.

ETBR

aneurysm


Input: The impact of MRP was tested in vivo in a murine MSU crystal-induced peritonitis model.

MRP

peritonitis


Input: Compared with control group, the mRNA expressions of VEGF and Flk-1, and the density of neovascularization in the border area of infarct myocardium were increased in MI group and G-CSF group, whereas those in G-CSF group were significantly augmented compared with MI group (P < 0. 05).

VEGF

infarct


Input: Variegate porphyria (VP) is a low-penetrance, autosomal dominant disorder characterized clinically by skin lesions and acute neurovisceral attacks that occur separately or together.

Variegate porphyria

VP

Variegate porphyria

VP


Input: Laboratory and anthropometric measurements were included FBG, OGTT, HbA1C, lipid Profile, fasting serum visfatin, fasting serum insulin, weight, height, Body Mass Index (BMI) and waist hip ratio (WHR).

visfatin

waist hip ratio


Input: Taken together, our data suggest that hijacking of the proangiogenic property of Hey1 by LANA is an important strategy utilized by KSHV to achieve pathologic angiogenesis and that Hey1 is a potential therapeutic target in Kaposi sarcoma.

pathologic angiogenesis


Input: The genes involved in the translocation t (1; 2) (p13; q37) were recently identified: the colony-stimulating factor-1 (CSF1 or M-CSF1) at 1p13 and the collagen type VI alpha-3 (COL6A3) at 2q37.

translocation


Input: To better interpret the results, we also studied four other experimental groups: the turpentine oil-induced acute-phase response (AP group), AP group followed by GdCl3 administration (AP/Gd group), CCl4-induced cirrhosis (CCl4 group) and normal group.

acute-phase response


Input: Moreover, all female heterozygotes had clinical and ERG abnormalities.

ERG

abnormalities


Input: The effect of APS on glomerulonephritis rats induced by cationic Bovine Serum Albumin (C-BSA) was evaluated by flow cytometry using Nuclear Transcription Factor-kappaB (NF-kappaB) as marker.

Serum Albumin

glomerulonephritis

Serum Albumin

glomerulonephritis


Input: Overall, the results appear to sustain the importance of the FSL rats as an animal model of depression in view of the impairment of NPY genes and the ability of fluoxetine treatment to normalize NPY-related gene expression selectively in this strain.

NPY

depression

NPY

depression


Input: Moreover, reintroduction of LOXL1 and LOXL4 genes into human bladder cancer cells leads to a decrease of colony formation ability.

bladder cancer

bladder cancer


Input: In addition, the GATA4/GATA6 double heterozygous mutant embryo model displayed a spectrum of cardiovascular malformations similar to those seen in human CDH and nitrofen-induced animal models, including ventricular and aortopulmonary septal defects and thin ventricular myocardium.

aortopulmonary septal defects


Input: Here, we studied the ATP1A2 FHM2 gene in a young girl with episodes of both very severe and transient neurological symptoms that were triggered by mild head trauma as well as permanent mental retardation.

mild


Input: Correlation and factor analyses revealed that mRNA levels for genes that did exhibit differential expression in schizophrenia (MAG, CNP, SOX10, CLDN11, and PMP2), as opposed to those that did not (MOBP and MBP), loaded on separate factors.

schizophrenia

schizophrenia


Input: CA9 and CA12 mRNA levels were analyzed by semi-quantitative RT-PCR in comparison with VEGF as an indicator of hypoxia that uncouples the pVHL control.

hypoxia


Input: These results indicate that a combination treatment of UCMS-IFN-beta cells and 5-FU is a potentially effective therapeutic procedure for breast cancer.

IFN-beta

breast cancer

IFN-beta

breast cancer


Input: The mean TRF length tended to decrease as the mucosa underwent chronic atrophy gastritis, intestinal metaplasia, dysplasia and into gastric cancer.

TRF

intestinal metaplasia


Input: GRAIL-overexpressing T cells were intravenously injected in mice with DSS-induced colitis.

GRAIL

colitis


Input: Moreover, Plac8 deficiency significantly inhibited tumor formation in genetically engineered mouse models of pancreatic cancer.

pancreatic cancer


Input: The results of the micronucleus test indicated that the mean micronuclei rate (MNR) and mean micronucleated cells rate (MCR) in the cancer patients prior to radiotherapy were 12. 46 and 11. 29 per thousand, respectively, which were significantly higher than those (6. 65 and 5. 96 per thousand) in controls (P < 0. 01).

MNR

cancer


Input: For the first time, we demonstrate that 4-AAQB significantly suppress Atg-5 and Atg-7 expression with decreased autophagic flux in ovarian cancer cells via inhibition of the PI3K/Akt/mTOR/p70S6K signaling pathway.

ovarian cancer

ovarian cancer


Input: There was weak evidence to implicate the following: IL13, IFNGR2, EDN1, and VDR in asthma; IL18, TBXA2R, IFNGR2, and VDR in atopy; TLR9, TBXA2R, VDR, NOD2, and STAT6 in airway hyperresponsiveness; TLR10, IFNGR2, STAT6, VDR, and NPSR1 in atopic asthma.

atopy


Input: However, AdipoR1 and AdipoR2 proteins were lower in monocytes of T2D compared to normal-weight donors.

weight


Input: Comparisons of MRG expression in cells growing in vitro with those seen in tumors generated by the same lines in vivo showed that the levels of activity of these genes are influenced by the surrounding environment.

MRG

tumors


Input: Our results suggest that the difference of expression of IDO and dysfunctional activation of IDO in villi may play an important role in unexplained recurrent miscarriage.

IDO

recurrent miscarriage


Input: In addition, DSG1 deficiency was associated with increased expression of a number of genes encoding allergy-related cytokines.

allergy

allergy


Input: We attempted to address these questions by evaluating amplification of Her-2/neu in benign, premalignant, and malignant lesions using fluorescence in situ hybridization (FISH).

FISH

premalignant


Input: We investigated the effects of calmodulin (CaM) antagonists, trifluoperazine (TFP) and tamoxifen (TMX), on TRA-8-induced apoptosis and tumorigenesis of TRA-8-resistant pancreatic cancer cells, and underlying mechanisms.

TFP

tumorigenesis


Input: CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the acquired mutation in the PIGA gene leads to membrane loss of glycosylphosphatidylinositol-anchored membrane proteins, including CD59.

CD59 deficiency

CD59 deficiency


Input: Recently, fibrillin-1 (FBN1) was reported to play an important role in maintaining the physiological arterial stiffness of essential hypertension (EH).

arterial stiffness


Input: At day 10, Smad6 increased dramatically, Smad2, Smad3, and Smad4 remained elevated while Smad1 and Smad5 decreased in the fracture callus.

callus


Input: The gene Disrupted-In-Schizophrenia-1 (DISC1) has been indicated as a determinant of psychopathology, including affective disorders, and shown to influence prefrontal cortex (PFC) and hippocampus functioning, regions of major interest for affective disorders.

PFC

affective disorders


Input: Inducing cell proliferation inhibition and apoptosis via silencing Dicer, Drosha, and Exportin 5 in urothelial carcinoma of the bladder.

Exportin 5

carcinoma of the bladder


Input: Inhibitory effect of prolactin on the development of fatty liver induced by ACTH in thrat.

ACTH

fatty liver

ACTH

fatty liver


Input: In order to clarify the role of periostin in neovascularization, we examined the effect of periostin in angiogenic potentials of human endothelial colony forming cells (ECFCs) in vitro and in an ischemic limb animal model.

periostin

neovascularization


Input: Charcot-Marie-Tooth disease type 4J (OMIM 611228) is a recessive, potentially severe form of the disease caused by mutations of the lipid phosphatase FIG4.

Charcot-Marie-Tooth disease type 4J

Charcot-Marie-Tooth disease type 4J


Input: Steady-state levels of VEGF mRNA were inducible in CD3 + T cells by hypoxia, a known inducer of VEGF mRNA accumulation.

VEGF

hypoxia


Input: Our findings provided evidence that the SNP rs2071504 in the exon of POLR2A gene would not only confer a decreased risk of gastric cancer, but also influence lymph node metastasis and TMN stage of gastric cancer in the Chinese population.

POLR2A gene

lymph node metastasis


Input: Macrophages infiltrating granulation and adjacent disc tissues express ADAMTS-4, suggesting its involvement in herniated disc regression.

regression


Input: Accordingly, antagonists of 5-HT (2B) receptors might represent novel therapeutics for sympathetic overstimulation-dependent heart failure.

5-HT (2B

heart failure

5-HT (2B

heart failure


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).

NPY

body weight


Input: On multivariate analysis, neuropathy following d4T exposure was associated with increasing age, increasing height, and TNFA-1031 * 2 (model p = 0. 0009).

TNFA

height


Input: CTC genomic signatures clustered into two groups independent of subtype: a dormancy-related signature with 16 MCRs (AKT2, PTEN, CADM2); and a tumor-aggressiveness related signature with 358 MCRs (ANGPTL4, BSG, MIR-373).

PTEN

aggressiveness


Input: In the present study, we observe that hypoxia and reoxygenation, a component of ischemia, effectively induces apoptosis in the cardiac myocytes from neonatal rats and it concomitantly leads to induction of GADD153, an apoptosis-related gene.

ischemia


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.

diabetes


Input: In vitro studies using the Reed-Sternberg cell lines L428 and KM-H2 were also performed in both normoxia and hypoxia and VEGF protein production was assessed by flow cytometry (FACS), immunoassay of cell culture supernatant, and RT-PCR.

VEGF

hypoxia


Input: IgG antibodies against KU-MEL-1 were detected in the sera from 9 of 26 melanoma patients and from some patients with other cancers, including brain tumor, esophageal cancer, colon cancer, and chronic myelogenous leukemia, but were not detected in sera from 30 healthy individuals.

esophageal cancer


Input: In addition to β-catenin, immunoreactivity for phosphorylated SMAD2/3 (indicative of active TGFβ signaling) and COX2 was significantly increased in desmoid tumors compared with healing scar and quiescent fibrous tissue.

desmoid tumors


Input: Stable transfection of the U87 cell line with either a plasmid for over-expression of human ADAM17, or a siRNA to ADAM17 was employed in this study to establish high-or low-ADAM17 expression in glioma cells, respectively.

glioma


Input: Hypoxic-ischemic injury, which mimics stroke, has been shown to result in changes in connexins (Cxs), however, changes in Cxs have not been studied in the P10 hypoxia model.

hypoxia


Input: In this study, we elucidate some of the molecular mechanisms behind sporadic pheochromocytoma by performing a comprehensive analysis of copy number alterations, gene expression, promoter methylation and somatic mutations in the genes RET, VHL, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2, KIF1Bβ, TMEM127 and MAX, which have been associated with hereditary pheochromocytoma or paraganglioma.

MAX

sporadic


Input: SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis.

BFNIS

BFNIS


Input: Our study therefore identifies POPDC1 as a disease gene causing a very rare autosomal recessive cardiac arrhythmia and LGMD, expanding the genetic causes of this heterogeneous group of inherited rare diseases.

LGMD

LGMD


Input: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Colobomas

Colobomas


Input: Hb Johnstown [beta109 (G11) Val--> Leu], a high oxygen affinity hemoglobin (Hb) variant associated with beta0-thalassemia (thal) [IVS-I-1 (G--> A)], was identified in an 8-year-old girl referred to our laboratory because of erythrocytosis and a left-shifted oxygen dissociation curve (ODC).

thalassemia


Input: The mRNA levels of AdipoR1 and AdipoR2 were evaluated by quantitative reverse transcription polymerase chain reaction (RT-PCR) and immunohistochemical staining in 67 gastric cancer tissues and their normal counterparts.

gastric cancer


Input: The aneuploid changes detected at early stages of MYH-driven tumorigenesis may underlie accelerated tumor progression, increased cancer risk, and poor prognosis in MAP.

MYH

tumorigenesis


Input: The frequency of hypotension associated with streptokinase was significantly higher than that with alteplase.

alteplase

hypotension

alteplase

hypotension


Input: Despite its implied tumour suppressor (TSG) functions, its exact role in carcinogenesis remains unclear as CYGB upregulation is also associated with tumour hypoxia and aggressiveness.

CYGB

aggressiveness


Input: Mutation altering the miR-184 seed region causes familial keratoconus with cataract.

familial keratoconus with cataract

familial keratoconus with cataract


Input: The present study was aimed at investigating 1) the putative translocation of IGF-IR and the related insulin receptor (IR) to the nucleus in breast cancer cells, 2) the impact of IGF-IR and IR levels on IGF-IR biosynthesis in estrogen receptor (ER)-positive and ER-depleted breast cancer cells, and 3) the potential transcription factor role of IGF-IR in the specific context of IGF-IR gene regulation.

insulin receptor

translocation


Input: We investigated these families for any indication of predisposition to colorectal cancer or other HNPCC spectrum cancers by means of detailed questionnaires, interviews, and examination of EXO1-null skin leiomyomata for microsatellite instability (MSI).

microsatellite instability


Input: Low gene expression of bone morphogenetic protein 7 in brainstem astrocytes in major depression.

bone morphogenetic protein 7

major depression

bone morphogenetic protein 7

major depression


Input: We demonstrated that Ad-IL-24 induced significant growth inhibition and apoptosis, upregulated the expression of P21, P27, and Bax, downregulated Bcl-2 expression, and activated caspase-3 in Hep-2 laryngeal tumor cells, while it exerted no direct effect on the in vitro proliferation of WI-38 normal diploid cells.

laryngeal tumor


Input: Evaluation of patients for Lynch syndrome includes assessment of age and family cancer history as well as testing for microsatellite instability and alterations in mismatch repair (MMR) genes.

MMR

microsatellite instability


Input: Developmental, malignancy-related, and cross-species analysis of eosinophil, mast cell, and basophil siglec-8 expression.

malignancy


Input: In the present study, we investigated the association of genetic polymorphisms in vascular endothelial growth factor (VEGF), transforming growth factor beta (TGF-β), and interferon γ (IFN-γ) genes, which may be responsible for the hypoxia-induced VEGF-mediated neovascularization pathway for the pathogenesis of PDR.

TGF-β

hypoxia


Input: A study was undertaken to analyse systematically the clinical presentation, pulmonary function, diagnostic imaging, pathological features and outcomes of children with ABCA3 mutations.

pulmonary function


Input: The finding recapitulates the previously reported phenotype of nitric oxide synthase 1-deficient mice, which have achalasia.

nitric oxide synthase 1

achalasia

nitric oxide synthase 1

achalasia


Input: We examined the relationship between D40 expression and clinico-pathological characteristics of tumours in primary lung cancer.

lung cancer


Input: Subarachnoid hemorrhage (SAH) causes secondary brain injury due to vasospasm and inflammation.

SAH

inflammation


Input: While immunostaining intensity for HIF-1alpha and VEGF was significantly enhanced in 75% of PCa specimens when compared to matched benign specimens (p < 0. 0001), the CT genotype did not modulate the kinetics of HIF-1alpha protein expression in hypoxia in vitro, and was not associated with enhanced expression of hypoxic biomarkers.

VEGF

hypoxic


Input: Besides monosomy 7 and large 7p abnormalities encompassing IKZF1, most IKZF1 alterations are short, intragenic deletions.

abnormalities


Input: These observations suggest a role for Wnt-4 in the pathogenesis of renal fibrosis.

renal fibrosis


Input: Here, we have studied the roles of the tumor suppressor gene p53 and the proto-oncogene c-Src in regulating the transcription of VPF/VEGF in breast cancer cell lines MCF-7 and MDA-MB 435 under both normoxic and hypoxic conditions.

VEGF

hypoxic


Input: We conclude that block of SUR1 by glibenclamide may ameliorate several pathologic effects associated with inflammation that lead to cortical dysfunction after SAH.

SAH

inflammation


Input: In fact, blocking cyclooxygenase-2 with NS398 in hypoxic-1833 cells, not only HIF-1α decreased but also molecular-mechanism (s) upstream of the Hippo pathway were triggered: LATS-dependent TAZ phosphorylation seemed responsible for TAZ nucleus/cytoplasm translocation and degradation.

translocation


Input: Cole Disease Results from Mutations in ENPP1.

Cole Disease

Cole Disease


Input: To derive a precise estimation of the associations between the cytochrome P450 1B1 (CYP1B1) 4326C/G variants and prostate cancer (PCa) risk or aggressiveness, a meta-analysis was performed using all eligible published studies.

aggressiveness


Input: Genetic risk factors for sporadic neuroendocrine tumors (NET) are poorly understood.

NET

sporadic


Input: It increased the plaque collagen and elastin contents, and reduced plasma angiotensin II levels and plaque macrophage infiltration and cathepsin S (CatS) protein.

cathepsin S

plaque


Input: In this study, Bcl-2/adenovirus E1B 19-kDa-interacting protein 3 (BNIP3) is identified as a downstream transducer of the Ras/Raf/ERK signaling pathway to induce autophagy.

adenovirus


Input: The current study evaluated whether three previously reported AS-associated single-nucleotide polymorphisms (SNPs), rs6908425 T & gt; C in CDKAL1, rs11584383 T & gt; C near KIF21B, and rs11175593 C & gt; T near LRRK2/MUC19, have any genetic overlap across multiple autoimmune diseases including SAPHO syndrome, RA, AS, and SPA.

SAPHO syndrome

SAPHO syndrome


Input: In transient transfection assays, introduction of dominant-negative constructs for both MKK7 and SEK1 abolished hypoxia-induced AP-1 activation.

hypoxia


Input: Circulating miR-21 levels are significantly increased in patients with severe IF/TA grade (IF/TA grade 3: 3. 0 & #177; 1. 0 vs lower grade of fibrosis: 1. 5 & #177; 1. 2; p & #8202; = & #8202; 0. 001).

fibrosis

fibrosis


Input: Treatment of these patients with granulocyte colony-stimulating factor results in normalization of neutrophil chemotaxis against C5a and significant clearing of infections.

infections


Input: Thus, LKB1-mutant lung cancers have deficits in nucleotide metabolism that confer hypersensitivity to DTYMK inhibition, suggesting that DTYMK is a potential therapeutic target in this aggressive subset of tumors.

DTYMK

hypersensitivity


Input: The peritoneal damages, such as neoangiogenesis and submesothelial fibrosis, were significantly reduced in icodextrin-based PDF compared to high-glucose-based PDF.

PDF

fibrosis


Input: Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

platyspondylic skeletal dysplasia, Torrance type

platyspondylic skeletal dysplasia, Torrance type


Input: Because p53, a tumor suppressor gene, has an important pathophysiologic role in the regulation of lung epithelial cell DNA damage responses, we hypothesized that p53 may be involved in the oxidative stress-mediated apoptosis induced by marijuana smoking.

marijuana

marijuana


Input: Here, CYP1A1 polymorphisms were investigated in 134 infertile Caucasian men.

infertile


Input: Primary analyses included age, smoking, alcohol, parity, weighted GRS using 31 non-HLA alleles and 8 HLA-DRB1 alleles, and the HLA × smoking interaction.

GRS

smoking


Input: This study was aimed at investigating the changes in neurochemical mechanisms such as lipid peroxidation levels, nitrite content, glutathione reduced (GSH) concentration, superoxide dismutase and catalase activities in the frontal cortex and the striatum of Wistar adult rats after seizures and SE induced by pilocarpine.

catalase

seizures

catalase

seizures


Input: That the incidence of follicular lymphoma and the previously reported frequency of BCL2 translocation are lower in Asians than in Caucasians implies a different molecular pathology.

translocation


Input: We studied a series of 68 subjects diagnosed with childhood acute myeloid leukemia (AML) using conventional cytogenetics and fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR) to analyze mutations in FLT3 and NPM1 genes, and/or array comparative genomic hybridization (CGH).

FISH

childhood acute myeloid leukemia


Input: Tumor cell-specific overexpression of EphB2 was detected in human cSCCs and in chemically induced mouse cSCCs with immunohistochemistry, whereas the expression of EphB2 was low in premalignant lesions and normal skin.

premalignant


Input: Using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing, postmortem genetic testing of CAV3 was performed on genomic DNA isolated from frozen necropsy tissue on a population-based cohort of unrelated cases of SIDS (N = 134, 57 females, average age = 2. 7 months).

SIDS

SIDS


Input: In animal studies that employ a transgenic adenocarcinoma of the mouse prostate (TRAMP), which is a model that mimics progressive forms of human prostatic disease, we observed that oral infusion of a polyphenolic fraction isolated from green tea (GTP) at a human achievable dose (equivalent to 6 cups of green tea/d) significantly inhibits PCa development and metastasis.

TRAMP

prostatic disease


Input: As was the case in schizophrenia, no changes in NR3A expression were observed in the inferior temporal cortex in bipolar disorder.

bipolar disorder

bipolar disorder


Input: Although human and experimental acquired myasthenia gravis (MG) are prototypic antibody (Ab)-mediated autoimmune diseases, synthesis of the pathogenic anti-acetylcholine receptor (AChR) Abs, which are high affinity IgG, requires intervention of CD4 (+) T helper cells and their cytokines.

myasthenia gravis


Input: In MDD, the expression of HDAC2 and-5 mRNA was increased in a depressive state, but not in a remissive state, compared to controls.

depressive state

depressive state


Input: Our study not only provides new clues to understand the role of mRNP biogenesis in preventing genome rearrangements and the mechanism of AID-mediated genome instability, but also shows that, once uracil residues are produced by AID-mediated deamination, these are processed into DSBs and chromosomal rearrangements by the general and conserved DNA repair functions present from yeast to human cells.

AID

genome instability


Input: VWF and FVIII levels returned to baseline by day 14. rhIL-11 was well tolerated with less than grade-1 hypertension, hypokalaemia and fluid retention.

VWF

hypokalaemia


Input: Twenty-eight candidate genes were identified, including IGFBP-3, ADM, ANGPTL4, PLOD2, DSIPI, NDRG1, ENO2, HIG2 and BNIP3L, which are known to be hypoxia-inducible genes.

ADM

hypoxia


Input: We previously found that a long non-coding RNA, the plasmacytoma variant translocation 1 (PVT1), increases plasminogen activator inhibitor 1 (PAI-1) and transforming growth factor beta 1 (TGF-β1) in mesangial cells, the two main contributors to ECM accumulation in the glomeruli under hyperglycemic conditions, as well as fibronectin 1 (FN1), a major ECM component.

plasminogen activator inhibitor 1

plasmacytoma


Input: We identified a total of 9 angiogenic genes, including angiopoietin-like (ANGPTL) 4, ephrin (EFNA) 3, transforming growth factor (TGF) β1 and vascular endothelial growth factor (VEGF), to be upregulated in a HIF dependent manner in Caco-2 CRC cells in response to both hypoxia and the hypoxia mimetic dimethyloxallylglycine (DMOG).

VEGF

hypoxia


Input: The endocannabinoid system can exert beneficial effects on gastrointestinal inflammation, and cannabinoid receptor-2 (CB2) agonists may represent a new therapeutic approach in inflammatory bowel disease (IBD).

gastrointestinal inflammation


Input: Somatic NOD2 mosaicism in Blau syndrome.

Blau syndrome

Blau syndrome


Input: Inherited variation in the complement factor H gene is a major risk factor for drusen in dry AMD.

complement factor H gene

dry


Input: In a laser-induced choroidal neovascularization (CNV) model of macular degeneration, Rap1b (-/-) mice exhibited larger CNV volumes compared to wild-type or Rap1a (-/-).

choroidal neovascularization


Input: In this study we analysed SUFU (human Suppressor of Fused), which acts as a negative regulator of both the Shh and Wnt signalling pathways and therefore represents a putative tumour suppressor gene, to find out if it is also involved in the pathogenesis of sporadic MBs.

SUFU

sporadic


Input: We analyzed differences in ASAH1, LASS4 and LASS6 on mRNA level between breast cancer subgroups using microarray data from 1581 tumor samples.

tumor


Input: To assess for the first time the possible contribution of latent transforming growth factor (TGF)-beta binding protein 2 (LTBP2), an extracellular matrix (ECM) protein that associates with fibrillin-1-containing microfibrils, to the etiology of primary open angle glaucoma (POAG) and pseudoexfoliation (PEX) syndrome.

pseudoexfoliation


Input: Risk factors identified in our study may provide a better understanding of the etiological role of MYH9 and influence of environmental factors in nonsyndromic orofacial cleft incidence.

orofacial cleft


Input: Mutations in cardiac MyBP-C are a major cause of hypertrophic cardiomyopathy (HCM), while mutations in skeletal MyBP-C have been implicated in a disease of skeletal muscle-distal arthrogryposis type 1 (DA-1).

MyBP-C

distal arthrogryposis type 1


Input: By contrast, 10 of 62 (16%) SK revealed the typical cancer-associated PIK3CA mutations E542K, E545K, and H1047R.

SK

SK


Input: Circulating intercellular cell adhesion molecule-1, endothelin-1 and von Willebrand factor-markers of endothelial dysfunction in uncomplicated essential hypertension: the effect of treatment with ACE inhibitors.

von Willebrand factor

essential hypertension


Input: These data indicate that CRF receptor antagonists may be useful for the treatment of the disease states where CRF is elevated such as anxiety and depression, anorexia nervosa and stroke and that ligand inhibitors of CRF-BP may be used to elevate brain levels of' free' urocortin and other CRF-related peptides.

urocortin

depression

urocortin

depression


Input: Here we report a genetic locus associated with a human syndrome of coexistent generalized epilepsy and paroxysmal dyskinesia on chromosome 10q22 and show that a mutation of the alpha subunit of the BK channel causes this syndrome.

BK channel

generalized epilepsy and paroxysmal dyskinesia

BK channel

generalized epilepsy and paroxysmal dyskinesia


Input: Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.

recessive dystrophic epidermolysis bullosa

recessive dystrophic epidermolysis bullosa


Input: STR-3 is also overexpressed by interdigitating stromal cells in primary epithelial malignancies.

STR

malignancies


Input: Furthermore, MUC1 facilitates Hif1-α translocation to the nucleus.

translocation


Input: These findings suggest that HDAC6-mediated reversible acetylation might contribute to maintain proper neuronal activity in serotonergic neurons, and also provide a new therapeutic target for depression.

depression

depression


Input: These results demonstrate a functional role for Klk6-PAR1 signaling in oligodendroglial pathophysiology and suggest that antagonists of PAR1 or its protease agonists may represent new modalities to moderate demyelination and to promote myelin regeneration in cases of CNS white matter injury or disease.

demyelination


Input: We sequenced NKX2-5 in 303 sporadic CHD patients and 38 families with at least two individuals with CHD.

sporadic


Input: We tested for the association of IL17A SNPs with susceptibility to infection and clinical outcome of severe sepsis using two cohorts of European ancestry (derivation cohort, St Paul' s Hospital (SPH), n = 679; validation cohort, Vasopressin and Septic Shock Trial (VASST), n = 517).

SPH

severe sepsis


Input: Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S. H., Kanai, Y., Kunimi, M., Tsukamoto, K., Satoh, H., Shimadzu, M., Tozawa, F., Mori, T., Shiobara, M., Seki, G., and Endou, H. (1999) Nat.

Endou

glaucoma


Input: The paracaspase MALT1 (mucosa associated lymphoid tissue lymphoma translocation gene 1) is an intracellular signaling protein that plays a key role in innate and adaptive immunity.

translocation


Input: New discoveries include gene-based association of NSF with triglyceride levels and several genes (ACSM3, ERI2, IL18RAP, IL23RAP and NRG1) with left ventricular hypertrophy phenotypes.

left ventricular hypertrophy


Input: Weak expression of FAK correlated with pelvic lymph node metastasis (P = 0. 026) and recurrent disease (P = 0. 013).

FAK

lymph node metastasis


Input: Functionally, TCF21 binds the promoter of the melanoma metastasis-suppressing gene, KiSS1, and enhances its gene expression through interaction with E12, a TCF3 isoform and with TCF12.

melanoma


Input: Here, we examine the potential relationship between RasGRF1 expression and MMP production in RA, reactive arthritis, and inflammatory osteoarthritis synovial tissue and FLS.

osteoarthritis


Input: From the gene SYNPO, rs6579797 (MAF = 0. 032) shows significant associations with ABF (P =. 015) and schizophrenia (P =. 040), as well as jointly (P =. 0027).

MAF

schizophrenia


Input: Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation.

pituitary hormone deficiency


Input: We report transiently increased retinal levels of BDNF, NT3, p75 (NTR), FGFR1 and HGFR and decreased levels of FGF9, HGF, TrkB, TrkC, FGFR4 and Thy1 following ischemia.

BDNF

ischemia


Input: For this purpose, androgen receptor (AR) and estrogen receptor (ER alpha and ER beta) expression was quantified in 12 clinically localized and 11 hormone-refractory sporadic prostate tumors, using real-time quantitative reverse transcription-PCR assays.

androgen receptor

sporadic


Input: Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy.

DMPK

hypotension


Input: Surprisingly, Rac1 mediated phosphorylation of p38 mitogen-activated kinase in papilloma cells but not normal cells, and inhibition of p38 with the specific inhibitor SB202190 suppressed COX-2 expression in papilloma cells but had no effect on low-level COX-2 expression in normal cells.

papilloma


Input: The promoter hypermethylation and expression of sFRP and WIF-1 genes in different stages of colorectal tumor and colorectal cancer cell lines were detected by methylation-specific PCR and reverse transcription PCR, respectively.

colorectal tumor

colorectal tumor


Input: These findings suggest that fractalkine expression and CX3CR1-positive cell infiltration in diabetic kidneys might play an important role for progression of diabetic nephropathy.

fractalkine

diabetic nephropathy


Input: Postischemic loss of VE-cadherin, occludin, and zona occludens-1 in SphK2-null mice with prior HPC suggests that SphK2-dependent protection of these adherens and tight junction proteins is compulsory for HPC to establish a vasculoprotective phenotype.

occludin

zona


Input: Common allelic variations have now been associated with bone density for the estrogen receptor, TGF beta receptor, and TGF beta 1, for the insulin-like growth factor-I pathway, for interleukin-4 and-6 and the interleukin-1 receptor antagonist, for calcitonin and the PTH receptors and for apolipoprotein E. Of considerable interest, chromosomal loci, notably 11q 12-13, have now been linked to bone phenotypes in human and mouse studies.

PTH

bone density


Input: Intact FHIT mRNA was not detected in two patients with acute myeloid leukemia (AML) and in one patient with chronic lymphocytic leukemia (CLL).

FHIT

chronic lymphocytic leukemia


Input: Further, tumorigenesis in Dcn (-/-) mice was associated with disruption of intestinal maturation, including decreased cell differentiation and increased proliferation, which were linked to the downregulation of p21 (WAF1/cip1), p27 (kip1), intestinal trefoil factor and E-cadherin and to the upregulation of beta-catenin signaling.

tumorigenesis


Input: Methylation of GATA-4 and GATA-5 and development of sporadic gastric carcinomas.

GATA

sporadic


Input: PTEN is a tumor suppressor commonly inactivated in prostate cancer that has been mechanistically linked to disease aggressiveness.

PTEN

aggressiveness


Input: In the last 3 years, more than 15 missense and nonsense CARD9 mutations have been reported which associate with the development of a wide spectrum of fungal infections caused by a variety of fungal organisms.

fungal infections


Input: Four pancreatic ductal adenocarcinoma cell lines (PancQGO-1, BxPC-3, MIAPaCa-2, CFPAC-1), 1 islet carcinoma cell line (QGP-1), and 1 adenosquamous carcinoma cell line (KP-3) were analyzed for CDX1 and CDX2 expression using real-time reverse transcription-polymerase chain reaction and Western blot analysis.

pancreatic ductal adenocarcinoma


Input: X-linked VACTERL-hydrocephalus syndrome (X-linked VACTERL-H) is a rare disorder caused by mutations in the gene FANCB which underlies Fanconi Anemia (FA) complementation group B.

FA) complementation group B

VACTERL-H

FA) complementation group B

VACTERL-H


Input: FOXM1 is overexpressed owing to gene amplification in basal-type breast cancer and diffuse large B-cell lymphoma (DLBCL), and it is transcriptionally upregulated owing to Hedgehog-GLI, hypoxia-HIF1α or YAP-TEAD signaling activation.

YAP

hypoxia


Input: The AML1 (RUNX1)-MTG8 (ETO) fusion transcription factor generated by the t (8; 21) translocation is believed to deregulate the expression of genes that are crucial for normal differentiation and proliferation of hematopoietic progenitors, resulting in acute myelogenous leukemia.

translocation


Input: This study suggests that the germline mutation in one of the copies accompanied by loss or inactivation of the second copy of the NF1 gene and tumor suppressor gene (s) on 17p and 22q may be associated with the neoplastic transformation; abnormalities of other chromosomes may be related to progression of MPNST.

NF1 gene

neoplastic transformation


Input: Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation.

Benign paroxysmal torticollis of infancy

Benign paroxysmal torticollis of infancy


Input: The dynorphin/KOR system is a crucial neurochemical substrate underlying the pathologies of addictive diseases, affective disorders and other disease states.

KOR

affective disorders

KOR

affective disorders


Input: Antibodies against RFC protein revealed a parallel change in RFC expression in both brush border and BLM surfaces during chronic alcoholism.

RFC

chronic alcoholism

RFC

chronic alcoholism


Input: Recently, epithelial-mesenchymal transition (EMT) has attracted attention in studies of tumor progression.

EMT

tumor progression


Input: We found that 10 micromol/L celecoxib reduced P-glycoprotein, Bcl-x (L), and Bcl-2 expression, and induced translocation of Bax from cytosol to mitochondria and cytochrome c release into cytosol in MDR-positive hepatocellular carcinoma cells.

translocation


Input: Expression of VEGF protein was greater at p14, when 30% avascular retina existed in the ROP model, compared with room air, when no avascular retina existed, and at p18, when intravitreous neovascularization existed in the model but not in room air (P <. 001 for both).

neovascularization


Input: The ORs of RUNX3 methylation were 16. 6 (95% CI = 6. 5-42. 4) for tumor tissues relative to tumor-adjacent tissues in patients with HCC, 67. 3 (95% CI = 13. 0-348. 5) for tumor tissues from patients with HCC relative to liver tissues from patients with non-neoplastic liver diseases, and 3. 26 (95% CI = 1. 54-6. 90) for tissues from patients with hepatitis C virus (HCV)-related HCC relative to liver tissues from patients with HCC unrelated to HCV.

HCC

liver diseases


Input: Inhibition of lipocalin 2 impairs breast tumorigenesis and metastasis.

lipocalin 2

tumorigenesis


Input: Three patients carrying FOLR1 mutations developed progressive movement disturbance, psychomotor decline, and epilepsy and showed severely reduced folate concentrations in the cerebrospinal fluid (CSF).

epilepsy

epilepsy


Input: C1D is a major autoantibody target in patients with the polymyositis-scleroderma overlap syndrome.

overlap syndrome


Input: Human corneal limbal epithelial cell clones stably expressing SLURP1 under the control of cytomegalovirus (CMV) promoter were generated using lentiviral vectors.

cytomegalovirus


Input: VHL protein (pVHL) has a critical role in regulating proteasomal degradation of the HIF transcription factor, and VHL inactivation results in overexpression of many hypoxia-inducible mRNAs including vascular endothelial growth factor (VEGF).

VEGF

hypoxia


Input: The aim of the study was to test whether CACNA1E common variability affects beta cell function and/or insulin sensitivity in patients with newly diagnosed type 2 diabetes.

insulin sensitivity


Input: RMR values were compared by using both linear (analysis of covariance) and log-linear (analysis of covariance with log-transformed data) regression to control for differences in FM and FFM.

FFM

regression


Input: Therefore, TRPM7 may constitute a useful target for the treatment of liver fibrosis.

liver fibrosis

liver fibrosis


Input: Better understanding of the pathogenesis of hemangioma by identification of the relevant factors involved in its regression such as clust/apoJ will result in the development of novel therapies for this condition and tumors that do not undergo spontaneous regression.

apoJ

regression


Input: In order to characterize the desmoplastic response in thyroid cancers, we evaluated the expression pattern of three molecular markers of activated fibroblasts/myofibroblasts, namely, fibroblast activation protein alpha (FAPalpha), tenascin-C (Tn-C), and alpha-smooth muscle actin (alpha-SMA), as well as the endothelial markers endoglyx-1, CD34 and CD31 in a series of 28 metastatic and non-metastatic medullary thyroid cancers.

smooth muscle actin

desmoplastic


Input: The t (14; 18) chromosomal translocation of human follicular B-cell lymphoma juxtaposes the bcl-2 gene with the immunoglobulin heavy chain locus.

bcl-2 gene

chromosomal translocation


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.

body mass index


Input: We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4.

autistic

autistic


Input: Fifty-four of the 67 carriers of NOD2 variants had NAID, which has a genotype profile that is somewhat different from Crohn' s disease.

NAID

NAID


Input: Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

CYBB

X-linked chronic granulomatous disease

CYBB

X-linked chronic granulomatous disease


Input: MEN2A represents more than 50% of all MEN2 cases, having a regular pattern with medullary thyroid carcinoma (MTC) incidence of 90-100%, bilateral pheochromocytoma (PCC) incidence of 40-50% and primary hyperparathyroidism (HPT) incidence of 10-25%.

HPT

pheochromocytoma


Input: These results suggest that overexpression of HSCO suppresses p53-induced apoptosis by preventing nuclear localization of NF-kappa B during signaling and thus contributes to hepatocarcinogenesis.

HSCO

hepatocarcinogenesis


Input: Inhibition of an upstream growth factor signal prevents tumor growth of the U87 PTEN-deficient glioma to the same extent as re-introduction of PTEN.

glioma


Input: These latter data provide indirect evidence that short-lived transacting factor (s) regulate transcription of the human bcl-2 gene in lymphoid cells with or without a t (14; 18) translocation.

bcl-2 gene

translocation


Input: Our studies demonstrated that collagen XVIII and VEGF are expressed and responsive to ES in a limited number of SCC cell lines during normoxia but were most responsive when grown under hypoxic conditions.

VEGF

hypoxic


Input: We studied the expression of IDE protein in postmortem brains of patients with schizophrenia and controls because: (1) the gene encoding IDE is located on chromosome 10q23-q25, a gene locus linked to schizophrenia; (2) insulin resistance with brain insulin receptor deficits/receptor dysfunction was reported in schizophrenia; (3) the enzyme cleaves IGF-I and IGF-II which are implicated in the pathophysiology of the disease; and (4) brain gamma-endorphin levels, liberated from beta-endorphin exclusively by IDE, have been reported to be altered in schizophrenia.

IGF-II

insulin resistance


Input: Evidence for multiplicative interaction was found between combined NER genotypes and smoking dose (likelihood ratio test P = 0. 06), duration (P = 0. 09), time since cessation (P = 0. 02), age at initiation (P = 0. 04) and former smoking (P = 0. 03).

NER

smoking


Input: In conclusion, CHD7 mutations were detected in a large proportion (64%) of cases diagnosed with CHARGE syndrome.

CHARGE syndrome

CHARGE syndrome


Input: Mean patient discomfort scores were 20% for MRC and 68% for colonoscopy, P = 0. 003.

MRC

discomfort


Input: The combined effect of smoking and alcohol intake affected risk, at high exposure level, for ERCC6 1230Pro carriers (OR = 0. 47, 95% CI 0. 22-0. 98) and RAD23B 249Val carriers (OR = 2. 6, 95% CI 1. 3-4. 9).

alcohol intake


Input: The I2020T LRRK2 TG mouse exhibited impaired locomotive ability accompanied by several dopaminergic neuron abnormalities.

abnormalities


Input: The expression of VEGF under hypoxic conditions requires transcription through activated hypoxia-inducible factor 1 (HIF-1), increased mRNA stability, and facilitated translation.

VEGF

hypoxic


Input: Analysis of surgical biopsy specimens showed the expression of RANKL (31%), RANK (38%), and OPG (19%) in primary carcinoma.

RANK

primary carcinoma


Input: Zebrafish morpholino studies of spag1 produced cilia-related phenotypes previously reported for PCD-causing mutations in genes encoding cytoplasmic proteins.

PCD

PCD


Input: Taken together, our findings suggest that AEG-1 contributes to glioma-induced neurodegeneration, a hallmark of this fatal tumor, through regulation of EAAT2 expression.

neurodegeneration


Input: We also examined the potential of IL-27 gene delivery by sonoporation to treat and reduce the growth of prostate cancer in vivo.

prostate cancer

prostate cancer


Input: However, translocation (14; 18) (q32; q21) was not detected in any of the cases with BCL2 amplification.

translocation


Input: In parallel, our understanding of iron transport has expanded through identification of Fpn1/Ireg1/MTP1, Sfxn1 and DCYTB: Ongoing studies of Friedreich' s ataxia, sideroblastic anemia, aceruloplasminemia and neurodegeneration with brain-iron accumulation are clarifying the role for iron in the nervous system.

neurodegeneration


Input: Hypobaric hypoxia induced increase in transvascular leakage of sodium fluorescein dye, lung water content, lavage total protein, albumin, VEGF levels, pro-inflammatory cytokine levels, tissue expression of cell adhesion molecules and NF-κB DNA binding activity were reduced significantly after hypoxic preconditioning with cobalt.

VEGF

hypoxic


Input: Autosomal dominant optic atrophy (ADOA, OMIM 165500), an inherited optic neuropathy that leads to retinal ganglion cell degeneration and reduced visual acuity during the early decades of life, is mainly associated with mutations in the OPA1 gene.

Autosomal dominant optic atrophy

Autosomal dominant optic atrophy


Input: However, a proportion of Hsp47-expressing cells in plaque did not express type I procollagen, and this pattern could be reproduced in culture.

plaque


Input: Mismatch repair (MMR) status was accessed by testing tissue for microsatellite instability (MSI) and for hMLH1 and hMSH2 protein expression.

MMR

microsatellite instability


Input: We identified 70 genes that were recurrently mutated in Burkitt lymphomas, including ID3, GNA13, RET, PIK3R1 and the SWI/SNF genes ARID1A and SMARCA4.

RET

Burkitt lymphomas

RET

Burkitt lymphomas


Input: Our results point out that the overexpression of HMGA1P6 and HMGA1P7 could contribute to increase HMGA1 levels in human pituitary tumors, and then to pituitary tumorigenesis.

pituitary tumors


Input: After 2 courses of chemotherapy the mean hemoglobin decrease was 1. 2 g/dL in the EPO group versus 2. 8 g/dL in the control group (P = 0. 037).

EPO

hemoglobin


Input: The three coactivators, TIF-2, SRC-1 and RAC3, are up-regulated in relapsed prostate cancer.

prostate cancer

prostate cancer


Input: These results indicate that delayed capacity for HSV-2 plaque formation is a more sensitive assay than HCR in the detection of cellular DNA-repair deficiency for XP and CS.

HCR

plaque


Input: Recent studies demonstrate that experimental and human brain tumors express an 80-kDa protein that reacts with a specific sequence around nucleotide 2, 200 within the GLUT1 mRNA 3'-UTR.

UTR

brain tumors


Input: This is the first report of a GUCY2D mutation causing CACD and adds to our understanding of genotype-phenotype correlation in this heterogeneous group of choroidoretinal dystrophies.

CACD

CACD


Input: Heterozygous GATA-2 germline mutations are associated with overlapping clinical manifestations termed GATA-2 deficiency, characterized by immunodeficiency and predisposition to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).

GATA

immunodeficiency


Input: Loss of Spartin or elevation of BMP signaling induces age-dependent progressive defects resembling hereditary spastic paraplegias, including motor dysfunction and brain neurodegeneration.

Spartin

neurodegeneration


Input: Recently, we have demonstrated the mitochondrial involvement in FASN inhibition-induced apoptosis in melanoma cells.

FASN

melanoma

FASN

melanoma


Input: These findings suggest that ADAR2 overexpression causes enhanced pre-miR-10a and pri-miR-125a A-to-I editing, which alters mature miR-10a and miR-125a expression and may contribute to chordoma pathogenesis.

chordoma


Input: To determine whether the variation in phenotypic severity is due to mutations retaining residual function, we extended mutational analysis of OCTN2 to four additional European families with primary carnitine deficiency.

carnitine deficiency

carnitine deficiency


Input: This study was carried out to investigate the effect of PTH levels on the circulating CD4 +, CD8 + T cell counts (%) in patients with chronic renal failure (CRF) on regular hemodialysis ((HD).

chronic renal failure


Input: A range of EFTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date.

MFDM

MFDM


Input: Collectively, our results suggest that SREBP-2 plays a critical role in regulating osteoclastogenesis and contributes to breast cancer-induced osteolysis.

breast cancer

breast cancer


Input: These observations suggest that the time frame for the translocation of DJ-1 from the cytoplasm to mitochondria and to the nucleus following oxidative stress is quite different and that dimerized DJ-1 in mitochondria is functional as an antioxidant not related to cysteine modification.

translocation


Input: Taking into account that another metal ions transporter gene, SLC39A3, is associated to bipolar disorder, our findings reveal a role for brain metal homeostasis in psychosis.

psychosis

psychosis


Input: Mice lacking p16Ink4a were born with the expected mendelian distribution and exhibited normal development except for thymic hyperplasia.

thymic hyperplasia


Input: The results suggest that lower birth weight and maternal smoking during pregnancy may interact with DRD5 and DAT1 (birth weight only) in influencing associated antisocial behavior symptoms (ODD and conduct disorder).

antisocial behavior


Input: A hematological screening for alpha-thal should be considered in patients with mild developmental delay and a suggestive phenotype of ATR-16 with microcytic hypochromic anemia and normal iron status.

ATR

microcytic hypochromic anemia


Input: Here, we demonstrate for the first time that stressing pancreatic ductal adenocarcinoma (PDA) cells by treatment with DNA-damaging anticancer agents (mitomycin C, oxaliplatin, cisplatin, carboplatin, and a PARP inhibitor) results in HuR' s translocation from the nucleus to the cytoplasm.

HuR' s

translocation


Input: These data indicate that region-specific changes in PD and c-fos expression occur after withdrawal, while SERT mRNA expression is suppressed, similar to what has been reported in MDD.

PD

MDD

PD

MDD


Input: Tubular proteinuria was assessed by measuring urinary retinol-binding protein (RBP), beta2-microglobulin (beta2M), alpha1-microglobulin (alpha1M), and albumin in 138 patients: 26 affected males and 24 female carriers of the X-linked syndrome " Dent' s disease, " 6 patients with other Fanconi syndromes, 17 with distal renal tubular acidosis (dRTA), 39 with glomerulonephritis (GN), and 26 with Chinese herbs nephropathy (CHN).

CHN

nephropathy


Input: Our aim was to determine whether the presence of an exon 1 (G--> A) polymorphism at the SCARB1 gene modifies the insulin sensitivity to dietary fat.

SCARB1 gene

insulin sensitivity


Input: The results suggest that pleomorphic adenoma cells produce VEGF in several functional forms for their own proliferation or differentiation, and that the VEGF expression is controlled by hypoxic circumstances of poorly vascularized pleomorphic adenomas.

VEGF

hypoxic


Input: We conclude that under hypoxic conditions MCF-7 cells acquire a pro-inflammatory phenotype, and that solid human mammary carcinoma evidenced a similar activation of HIF-1alpha, NF-kappaB, and IR genes in malignant tumor cells as compared to the normal host tissues.

NF-kappaB

human mammary carcinoma


Input: Human serum CXCL9 levels were measured and correlated with CXCL9 variant and fibrosis severity.

fibrosis


Input: Megakaryocytes are homozygous in the majority of fibrotic CIMF and PV, whereas JAK2 (V617F) heterozygosity is predominantly encountered in prefibrotic CIMF and essential thrombocythaemia but transition from hetero-to homozygosity with onset of fibrosis is rare.

fibrosis


Input: The results suggest that the TDP1 mutation in SCAN1 abolishes the 3'-PG processing activity of the enzyme, and that there are no other enzymes in cell extracts capable of processing protruding 3'-PG termini.


Input: We examined two models of induced autoimmune arthritis pristane-induced arthritis (PIA) and collagen-induced arthritis (CIA) as well as the anti-collagen-II antibody-induced arthritis (CAIA) model.

CIA

autoimmune arthritis


Input: Considerable myotube loss and atrophy of 15-day-differentiated DM1 myotubes indicated activated catabolic pathways, as confirmed by the presence of apoptotic (caspase-3 activation, cytochrome c release, chromatin fragmentation) and autophagic (P62/LC3) markers.

atrophy


Input: Down-regulation of Kir4. 1 in the cerebral cortex of rats with liver failure and in cultured astrocytes treated with glutamine: Implications for astrocytic dysfunction in hepatic encephalopathy.

Kir4. 1

liver failure


Input: In both cases, IFN-alpha markedly inhibited IL-5 production while it induced mild upregulation of IL-4 and IL-10.

mild


Input: These findings suggest a crucial role for BMI-1 in osteosarcoma pathogenesis.

osteosarcoma

osteosarcoma


Input: Diploid NCOA3 signal counts were associated with longer adenoma recurrence-free surveillance (P = 0. 042).

adenoma


Input: Initial screening by Southern blot analysis showed amplification of S100A6, FLG and SPRR3 in several sarcomas and, in a first attempt to characterize the 1q21-q22 amplicon in more detail, we have now investigated the amplification status of these and 11 other markers in the region in 35 sarcoma samples.

sarcoma


Input: The results suggest that Notch2 (+) pancreatic cancer stem-like cells had a close relationship with CAC.

CAC

pancreatic cancer


Input: Our results suggested that genetic variants on the E-cadherin gene may be involved in endometriosis-related infertility.

E-cadherin

infertility


Input: Apolipoprotein C1 and apolipoprotein E are differentially expressed in atheroma of the carotid and femoral artery.

Apolipoprotein C1

atheroma


Input: Among the cognate genes, six including ALG8, DGKE, GNA12, KLF11, LRPAP1, and MMAB are related to multiple genetic diseases such as depressive disorder and Type-II diabetes.

depressive disorder

depressive disorder


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

depression

depression


Input: Treatment of wild-type precursors with clustered soluble EphB2-Fc inhibited RANKL induced formation of multinucleated osteoclasts, and bone resorption pits.

bone resorption


Input: Post-myocardial infarction ventricular remodeling is associated with the expression of a variety of factors including S100B that can potentially modulate myocyte apoptosis.

ventricular remodeling


Input: Loss of pVHL leads to an inappropriate accumulation of hypoxia-inducible mRNAs, such as the mRNA encoding vascular endothelial growth factor (VEGF), under normoxic conditions.

VEGF

hypoxia


Input: In addition, we analyzed the signaling mechanism underlying the up-regulation of ICAM-1 and found that the siRNA-mediated depletion of BLT2 markedly suppressed the LPS-induced expression of ICAM-1 in MDA-MB-231 cells and the subsequent adhesion of these cells to THP-1 monocytes.

adhesion


Input: The EGFR SNPs have a cumulative effect on decreasing lung adenocarcinoma risk in never-smoking women with HRT use.

EGFR

smoking


Input: The patients of the mutant group (Trp64/Arg64) had higher body mass index, weight, waist circumference, fat mass, waist-to-hip ratio, and C-reactive protein values than those of the wild-type group.

C-reactive protein

waist-to-hip ratio


Input: The function of AUTS2 is presently unknown, but it has been shown to be disrupted in monozygotic twins with autism and mental retardation, both carrying a translocation t (7; 20) (q11. 2; p11. 2) (de la Barra et al.

autism


Input: In [-] HSP72 or ICR, the body temperatures, cell ischemia content, and injury marker in the striatum were significantly higher, and the mean arterial pressure, striatal blood flow, and striatal PO2 concentration were significantly lower during heatstroke than in [+] HSP72.

ischemia


Input: We did not detect 22q11 interstitial deletions associated with the DiGeorge syndrome among the 320 patients of our sample and we found no association between common PRODH polymorphisms and any of the psychotic disorders.

PRODH

psychotic disorders


Input: Inhibition of SIRT2 in merlin/NF2-mutant Schwann cells triggers necrosis.

necrosis


Input: Localization of TRAIL (+) cells within the neovascular tufts of hyperoxia-exposed wild-type mice suggested TRAIL plays a role in oxygen-induced retinopathy.

TRAIL

retinopathy


Input: In searching for novel contributing gene products using Unigene cluster data mining, we found overrepresentation of expressed sequence tags corresponding to a previously uncharacterized gene (ZKSCAN3) in colorectal tumors.

colorectal tumors

colorectal tumors


Input: Rats vaccinated with scDEC-CD40 had significantly less proteinuria and renal injury than did rats receiving scControl-CD40 and were protected from developing Heymann nephritis.

proteinuria


Input: The relationship between germ-line mutations of hMSH2 and hMLH1, microsatellite instability (MSI), and loss of DNA mismatch repair (MMR) gene expression were studied to formulate an effective selection protocol for patients with suspected hereditary nonpolyposis colorectal cancer who should be offered genetic testing.

MMR

microsatellite instability


Input: In addition, Nrf2 KO mice show biomarkers of heart failure, such as elevated levels of & #946;-MHC, ANF, and BNP mRNA in the myocardium.

heart failure

heart failure


Input: Autophagy activities were increased dramatically in the ischemic brains 3-7 days postinjury from a rat model of neonatal cerebral hypoxia/ischemia as shown by increased punctate LC3 staining and BECN1 expression.

cerebral hypoxia


Input: There is no evidence to suggest that PI4K2B is contributing to bipolar disorder in this family but a role for this gene in schizophrenia has not been excluded.

schizophrenia

schizophrenia


Input: Polymerase chain reaction (PCR) was used to identify indolent NHL patients with the BCL2/IgH translocation which served as a marker of residual disease.

translocation


Input: Our study provides strong evidence that Gent inhibits reserpine-induced pain/depression dyad by downregulating GluN2B receptors in the amygdala.

depression

depression


Input: Here, we showed that SOX7 expression was regulated by DNA hypermethylation in AML but not in acute lymphoblastic leukemia or normal bone marrow cells.

acute lymphoblastic leukemia


Input: Both studies revealed the involvement of KRT19 in the invasive phenotype by modulating collective and individual migration and cell/extra-cellular matrix adhesion properties.

adhesion


Input: The mechanism of γ-H2AX on the angiogenic activity of HCC might go through EGFR/HIF-1α/VEGF pathways under hypoxic conditions.

VEGF

hypoxic


Input: The main features of AFAP are 100 or less colorectal adenomas with a tendency to rectal sparing, a delay in onset of adenomatosis and bowel symptoms of 20-25 years, a delay in onset of colorectal cancer (CRC) of 10-20 years and death from CRC of 15-20 years, and although the lifetime penetrance of CRC appears to be high, CRC does not seem to develop in nearly all affected patients.

AFAP

adenomatosis


Input: Microglial activation (evaluated by immunohistochemistry using ionized calcium-binding adapter molecule-1 (Iba1) antibody) coincided with DNA fragmentation and neurodegeneration in CA1 hippocampus and cortex (assessed by deoxynucleotidyltransferase-mediated dUTP nick-end labeling (TUNEL), Fluoro-Jade-B and Nissl stain).

neurodegeneration


Input: Anti-CD54 and anti-CD11b were tested in rats with indomethacin-induced chronic ileitis.

ileitis

ileitis


Input: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene.

VIPAR

ARC) syndrome

VIPAR

ARC) syndrome


Input: Our genetic and functional data indicate that DYNC1I2 dysfunction probably causes an autosomal-recessive microcephaly syndrome and highlight further the critical roles of the dynein-1 complex in neurodevelopment.

microcephaly

microcephaly


Input: Low-weight (10 gm) mechanically evoked responses of WDR neurons were significantly (P < 0. 05) facilitated 28 days after MIA injection compared with the responses in saline-treated rats, and spinal cord levels of anandamide and 2-arachidonoyl glycerol (2-AG) were increased in MIA-treated rats.

MIA

weight


Input: Introduction of exogenous ENC1 increased the growth rate of HCT116 colon cancer cells in serum-depleted medium.

colon cancer


Input: After a systematic literature review, seven studies with a total of 302 cases of HCC and 250 cases of chronic liver diseases were included in the analysis.

HCC

liver diseases


Input: Mucin1 (MUC1) is a transmembrane glycoprotein that plays a key role as an oncogene in the tumorigenesis of many human adenocarcinomas.

transmembrane glycoprotein

tumorigenesis


Input: Furthermore, WDR4 is an additional example of a gene that encodes a tRNA modifying enzyme and gives rise to GAMOS, if mutated.

GAMOS

GAMOS


Input: Gene involved in the 3q27 translocation associated with B-cell lymphoma, BCL5, encodes a Krüppel-like zinc-finger protein.

translocation


Input: Our aim was to test whether these type 1 diabetes-associated IFIH1 polymorphisms are associated with the occurrence of enterovirus infection in the gut of healthy children, or influence the lack of association between gut enterovirus infection and islet autoimmunity. After testing of 46, 939 Norwegian newborns, 421 children carrying the high risk genotype for type 1 diabetes (HLA-DR4-DQ8/DR3-DQ2) as well as 375 children without this genotype were included for monthly fecal collections from 3 to 35 months of age, and genotyped for the IFIH1 polymorphisms.

enterovirus infection


Input: SH01-MSC treatment of Hmox1 (KO) animals, which develop right ventricular (RV) infarction under prolonged hypoxia, resulted in normal RV systolic pressure, significant reduction of RV hypertrophy and prevention of RV infarction.

MSC

infarction


Input: In cases with liver diseases but not HCC, the proportion of the types of GGT mRNA was nearly the same as that in normal livers.

HCC

liver diseases


Input: In a large family with Reifenstein syndrome, we previously performed molecular analysis of the androgen receptor gene.

androgen receptor

Reifenstein syndrome

androgen receptor

Reifenstein syndrome


Input: The GRS linked to insulin sensitivity only nominally increased the risk of an early prescription redemption with an insulin drug by 39% (HR [95% C. I.]

GRS

insulin sensitivity


Input: We found that FUS, an RNA/DNA-binding protein that has been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration, is important for the DNA damage response (DDR).

DNA-binding protein

amyotrophic lateral sclerosis


Input: We show that primary nodal large B-cell lymphomas (LBCLs), and secondary cutaneous deposits from such lymphomas, abnormally express the BMI-1, RING1, and HPH1 PcG genes in cycling neoplastic cells.

secondary


Input: To identify genomic regions that are associated with BRCA1-and BRCA2-mutated breast cancers we compared aCGH data from 130 mouse Brca1Δ/Δ; p53Δ/Δ, Brca2Δ/Δ; p53Δ/Δ and p53Δ/Δ mammary tumor groups with 103 human BRCA1-mutated, BRCA2-mutated and non-hereditary breast cancers.

mammary tumor


Input: The cloning, mapping and expression of a novel gene, BRL, related to the AF10 leukaemia gene.

BRL

leukaemia


Input: These data demonstrate that widely heterogeneous missense or nonsense mutations of the MANB gene are the molecular basis underlying alpha-mannosidosis.

MANB

alpha-mannosidosis

MANB

alpha-mannosidosis


Input: Screening mutations of the genes causing PCLD (PRKCSH and SEC63) or ADPKD (PKD1 and PKD2) confirm the clinical diagnosis.

PRKCSH

PCLD

PRKCSH

PCLD


Input: Monocarboxylate transporter 8 (MCT8) is an essential thyroid hormone (TH) transporter as humans with MCT8 mutations have severe neurological and endocrine abnormalities.

abnormalities


Input: We observed significant correlation with drusen baseline area and the GRS in the age-related eye disease study (AREDS) dataset (ρ = 0. 175, P = 0. 006).

GRS

eye disease


Input: Our findings establish lesions in NARS2 as a new cause for nonsyndromic hearing loss and Leigh syndrome.

Leigh syndrome

Leigh syndrome


Input: P21 and P15 proteins mainly distributed in the interstitium of portal areas, the piece meal necrotic sites and the nuclei and cytoplasm of the hepatocytes.

necrotic


Input: The specific aim of this study was to investigate whether frameshift mutations of the MBD4 gene and the codon 346 polymorphism were associated with microsatellite instability (MSI) and the risk for gastrointestinal cancer.

MBD4 gene

microsatellite instability


Input: Kaplan-Meier analysis revealed that the 5-year survival rate of patients without lymph node metastasis; positive expression of Rictor, Beclin1, and LC3; and negative expression of Raptor and mTOR were higher than those with these characteristics.

lymph node metastasis


Input: The FTO gene is associated with the early onset of overweight in the Japanese population as well as in European populations.

FTO gene

overweight


Input: CARD15 mutation frequencies were greater in affected sib pairs than in sporadic CD cases but actually decreased in families with three or more affected sibs, raising the possibility of genetic heterogeneity.

CD

CD


Input: We also demonstrate that GDNF/Luc-NSCs prevent the degeneration of striatal neurons in the excitotoxic mouse model of Huntington' s disease and reduce the amphetamine-induced rotational behavior in mice bearing unilateral lesions.

GDNF

Huntington' s disease

GDNF

Huntington' s disease


Input: These data suggested that FBXL21 may be associated with schizophrenia in the Irish samples.

schizophrenia

schizophrenia


Input: Interestingly, mutations in the CNNM2 gene cause familial dominant hypomagnesaemia (MIM: 607803), a rare human disorder characterized by renal and intestinal magnesium (Mg (2 +)) wasting, which may lead to symptoms of Mg (2 +) depletion such as tetany, seizures and cardiac arrhythmias.

cardiac arrhythmias

cardiac arrhythmias


Input: The expression of cdc2, cdk2, cyclin B1 and cyclin A polypeptides was detectable in all lines examined, and moderate variation in protein level does not provide evidence for any obvious abnormalities in the cancer cell lines studied.

abnormalities


Input: Mortality was associated with undetectable levels of alpha/beta interferon (IFN-α/β) in serum, ∼ 50-and ∼ 10-fold increases in levels of IFN-γ and tumor necrosis factor (TNF), respectively, increased virus replication, edema, vasculitis, hemorrhage, fever followed by hypothermia, oliguria, thrombocytopenia, and raised hematocrits.

IFN

oliguria


Input: Nucleotide binding and oligomerization domain-like receptor protein 7 (NLRP7) is a major gene responsible for recurrent HMs and recently mutations in this gene have also been shown in 13% of women with sporadic, non-recurrent moles.

sporadic


Input: We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported.

NFIX

Malan syndrome

NFIX

Malan syndrome


Input: Here, we studied two candidate genes known to affect mood and aggression, the serotonin transporter (5-HTTLPR) and monoamine oxidase A (MAOA-VNTR) polymorphisms, in 50 males with FXS ages 8-24 years.

serotonin transporter

aggression


Input: This study supports a strong association between the mild to moderate myopia group and the HGF SNP rs3735520 and the HGF haplotypes rs2286194-rs3735520-rs17501108 and rs12536657-rs2286194, and a moderate association of the extreme high myopia with rs2286194.

HGF

moderate myopia


Input: Because neutrophil elastase has been shown to decrease endothelial production of prostacyclin by inhibiting NOS activity, we examined whether neutrophil elastase inhibitors reduce pulmonary vascular injury and hypotension by inhibiting the decrease in pulmonary endothelial production of prostacyclin in rats administered endotoxin.

neutrophil elastase

hypotension


Input: We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H + ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin syndrome.

wrinkly skin syndrome

wrinkly skin syndrome


Input: Since Southern blot demonstrated that both alleles of JH were rearranged, this translocation was suggested to have occurred at the step of VH-DH, or DH-DHJH recombination, one step later than that of DH-JH recombination where the common pattern of bcl-2 rearrangement generally occurs.

translocation


Input: A selective increase in the NR2B subunit was present in all cortical dysplasia, whereas the expression level of NR2A and NR2B subunits was significantly downregulated in all patients with heterotopia.

heterotopia


Input: Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

dendritic cell, monocyte, B and NK lymphoid deficiency

dendritic cell, monocyte, B and NK lymphoid deficiency


Input: Serum samples from 489 patients with B19-related symptoms and asymptomatic controls from three countries were studied.

asymptomatic