Input: Heterozygous P2Y 2 R deletion in TgCRND8 mice increased β-amyloid (Aβ) plaque load and soluble Aβ1-42 levels in the cerebral cortex and hippocampus, decreased the expression of the microglial marker CD11b in these brain regions and caused neurological deficits within 10 weeks of age, as compared to age-matched TgCRND8 mice.

plaque


Input: In the blood IFN-gamma expression was found in most samples, with higher level in patients with gastritis than in normals.

IFN

gastritis


Input: Maternal B19 infections were asymptomatic and fetal anomalies were observed during a routine ultrasound scan.

asymptomatic


Input: A comparative analysis of FISH, RT-PCR, and cytogenetics for the diagnosis of bcr-abl-positive leukemias.

FISH

leukemias


Input: Methylation-specific PCR (MSP) analysis showed that four of 13 ovarian cancer cell lines and two of 17 primary ovarian cancers had methylated SFRP1, while an immortalized ovarian epithelial cell line, HOSE, and seven ovarian endometrial cyst samples did not.

MSP

endometrial cyst


Input: The patients all had a homozygous missense mutation in SCO2.

all


Input: We should consider the genetic analysis of TTC19 when we observe such characteristic MRI abnormalities.

abnormalities


Input: Mutation status of GNAS1 exon 8 was analyzed in one hundred thirty-five formalin-fixed, paraffin-embedded (FFPE) gastrointestinal tumor samples including 45 tubular-villous adenomas, 11 tubular adenomas, 6 villousadenomas, 10 hyperplastic gastric polyps, 31 GEP-NETs and 32 colorectal adenocarcinomas by using polymerase chain reaction (PCR) and direct sequencing.

GEP

gastric polyps


Input: Ligation of OX40L resulted in a rapid translocation of protein kinase C beta2 to the cell membrane.

translocation


Input: We observed a significantly larger range of bcl2 translocation frequency (range: 0-372 x 10 (-6), median: 1. 9 x 10 (-6)) than of hprt mutation frequency (range: 0-76. 4 x 10 (-6), median: 11. 1 x 10 (-6)), which is likely the result of clonal proliferation of deathless B cell mutants.

translocation


Input: We performed family-based association studies of polymorphisms in metal-regulatory transcription factor 1 (MTF1), a multispecific organic anion transporter (ABCC1), proton-coupled divalent metal ion transporters (SLC11A3 and SLC11A2), paraoxonase 1 (PON1), and glutathione S-transferase (GSTP1) genes in 196 autistic disorder families.

autistic disorder

autistic disorder


Input: The multiplex PCR with array detection method detected the IGH @-BCL2 translocation in 26 of 36 FFPE follicular lymphoma specimens, whereas the BIOMED-2 assay detected 13 of 36 specimens.

translocation


Input: In both arms, median OS was shortest in patients with HS > 55 and intratumor CD8-positive T-cell counts > 300 (9. 6 and 11. 9 months with pazopanib and sunitinib, respectively).

arms


Input: We genotyped all family members for microsatellite markers at the IBGC1 locus and polymorphisms of the ApoE, VLDL, alpha1-ACT, BChE-K, APP, PS1, PS2 and tau genes and tested these for linkage to IBGC, dementia and bipolar disorder.

APP

bipolar disorder

APP

bipolar disorder


Input: To this end, epidermal scale or callus, nail and hair samples from a patient with TGM1-deficient CIE, his asymptomatic family members and control subjects were extracted vigorously in sodium dodecyl sulfate and dithiothreitol and examined by light (phase contrast) and electron microscopy.

asymptomatic


Input: A 13-year-old male patient diagnosed with cblC disease during a perinatal metabolic screening prompted by jaundice and hypotony underwent ophthalmic examinations, electroretinography (ERG) and spectral domain optical coherence tomography (SD-OCT).

ERG

jaundice


Input: Gene mapping studies assign L-myc to human chromosome region 1p32, a location distinct from that of either c-myc or N-myc but associated with cytogenetic abnormalities in certain human tumours.

c-myc

cytogenetic abnormalities


Input: In an attempt to elucidate the relationship between biomarkers of tumor hypoxia, glycolysis and angiogenesis, we tested the hypothesis that intratumoral gene expression of the hypoxia response (hypoxia inducible factor [HIF1 alpha and 2 alpha]), glycolysis (lactate dehydrogenase A [LDHA]), glucose metabolism (glucose transporter-1 [Glut-1]) and genes involved in angiogenesis (i. e., VEGFA, VEGFR1-3, and neuropilin [NRP] 1) are upregulated in metastatic colorectal cancer (mCRC) patients with high serum lactate dehydrogenase (LDH).

VEGFA

hypoxia


Input: Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

RET

Hirschsprung disease

RET

Hirschsprung disease


Input: However, previously, only the regulation of E-cadherin mediated adhesion through EGFR has been described and activation of EGFR was implicated in loss of cell adhesion, and increased cell migration and invasion.

EGFR

adhesion


Input: In a transgenic mouse model of chronic anemia caused by insufficient Epo production, Gas6 synergized with Epo in restoring hematocrit levels.

chronic anemia


Input: Overall, each gene was associated with at least one main outcome: anxiety (SAT1, SMS), mood disorders (SAT1, SMOX), and suicide attempts (SAT1, OATL1).

SMOX

mood disorders

SMOX

mood disorders


Input: The t (X; 18) (p11. 2; q11. 2) chromosomal translocation commonly found in synovial sarcomas fuses the SYT gene on chromosome 18 to either of two similar genes, SSX1 or SSX2, on the X chromosome.

chromosomal translocation


Input: BCL2 expression has also been found previously in about 10 to 20% of BL cases, and BCL2 translocation is a major mechanism for the deregulation of BCL2 expression in non-Hodgkin lymphomas.

translocation


Input: Thus, we tested the hypothesis that decreased activation of the pulmonary AhR augments hyperoxia-induced alveolar simplification and lung inflammation in newborn mice.

AhR

lung inflammation

AhR

lung inflammation


Input: SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: report of four cases and review of literatures.

alveolar microlithiasis

alveolar microlithiasis


Input: Furthermore, 128 biopsies from 16 advanced achalasic patients were prospectively collected and evaluated for grades of inflammation, hyperplasia, dysplasia and also for p53 and PCNA proteins.

PCNA

hyperplasia


Input: Susceptibility to pemphigus vulgaris (PV), an autoimmune disease of the skin, is linked to a rare subtype of HLA-DR4 (DRB1 * 0402, 1 of 22 known DR4 subtypes).

pemphigus vulgaris


Input: We identified 66 potentially pathogenic mutations in ATP2A2 for 74 of the 95 individuals with DD of which 45 (68%) are thought to be novel.

DD

DD


Input: Two novel mutations (HBG1: c.-250C & gt; T and HBG2: c.-250C & gt; T) associated with hereditary persistence of fetal hemoglobin.

hereditary persistence of fetal hemoglobin

hereditary persistence of fetal hemoglobin


Input: Hydrolethalus syndrome is inherited in an autosomal recessive manner and is caused by a missense mutation in the HYLS1 gene.

Hydrolethalus syndrome

Hydrolethalus syndrome


Input: The present study sheds light on a novel function of MMP13 during BM-dependent choroidal vascularization and provides evidence for a role for MSC in the pathogenesis of CNV.

MSC

vascularization


Input: In our series, cases of CEH-A with SM and beta-catenin alterations appeared to have a less aggressive behavior when compared with CEH-A without SM and with K-ras and PTEN mutations.

PTEN

aggressive behavior


Input: However, cell activity was significantly reduced and HTRA1 induced loss of disc height that positively correlated with changes in GAG/DNA content.

height


Input: Knockout or overexpression of the CatB gene reduced or increased, respectively, pGlu-Aβ (3-40/42), flAβ (1-40/42), and pGlu-Aβ plaque load, but knockout of the BACE1 gene had no effect on those parameters in the transgenic mice.

CatB

plaque


Input: The event-free survival (EFS) was worse in Ewing sarcoma patients with p16INK4 and p14ARF mutation/deletion than in those without the mutation/deletion (P = 0. 019), and EFS was worse in osteosarcoma patients with TP53 alterations than in those without TP53 alterations (P = 0. 048).

EFS

sarcoma


Input: Three of the genes, QPCT, CYP1B1, and LXN, are densely methylated in & gt; 95% of uncultured melanoma tumor samples.

QPCT

melanoma

QPCT

melanoma


Input: Genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.

autoimmune diseases


Input: There were significant decreases in the DR3, 5, 6, 8 group (DR5, DR6, or DR8) antigen frequencies in patients with retinal perivasculitis, high intraocular pressure (or secondary glaucoma), and optic nerve and/or macular lesion.

retinal perivasculitis


Input: Insulin resistance in eNOS (-/-) mice was related specifically to impaired NO synthesis, because in equally hypertensive 1-kidney/1-clip mice (a model of renovascular hypertension), insulin-stimulated glucose uptake was normal.

eNOS

Insulin resistance

eNOS

Insulin resistance


Input: The recurrent (12; 21) (p13; q22) translocation fuses the two genes TEL and AML1 that have previously been cloned from translocation breakpoints in myeloid leukemias.

translocation


Input: The purpose of this study was to demonstrate MSC markers in granulomas of ITB and evaluate whether distribution of MSC markers could differentiate between granulomas of Crohn' s and ITB.

MSC

granulomas


Input: Two of the MME were diploid and the other two MME were aneuploid.

MME

aneuploid


Input: The role of CD40 and CD40L in bone mineral density and in osteoporosis risk: A genetic and functional study.

bone mineral density


Input: Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1.

spondylitis


Input: Unexpectedly, those granulomas positive for IL-4 were always positive for IFN-gamma.

IFN

granulomas


Input: HIF-1alpha mRNA expression is differentially upregulated in esophageal squamous cell carcinoma compared to adenocarcinomas, but does not predict tumor regression or prognosis.

esophageal squamous cell carcinoma

esophageal squamous cell carcinoma


Input: We found these results to be concordant with our observation of decreased expression of IRF7 in the prefrontal cortex of MDDs with negative toxicological evidence for antidepressant treatment at the time of death.

MDD

MDD


Input: (1991) reported an association between homozygosity in a polymorphic site at codon 129 of the PrP gene, coding for either valine or methionine, with a tendency to acquire the sporadic or iatrogenic forms of CJD, as well as with disease age of appearance in the genetic type.

PrP

CJD

PrP

CJD


Input: We showed that chronic alcohol intoxication decreases brain-derived neurotrophic factor mRNA expression in discrete regions of the rat hippocampus (CA1 region and dentate gyrus) and in the supraoptic nucleus of the hypothalamus.

brain-derived neurotrophic factor

alcohol intoxication

brain-derived neurotrophic factor

alcohol intoxication


Input: We report here the identification and characterization of a novel gene (AUTS2) that spans the 7q11. 2 breakpoint in a monozygotic twin pair concordant for autism and a t (7; 20) (q11. 2; p11. 2) translocation.

autism


Input: The peripheral viremia and expression of host cytokines were not altered in MMP9 (-/-) mice; however, these animals were protected from lethal WNV challenge.

viremia


Input: All animals were prepared for measurement of CBF by the radiolabeled microsphere method under 1. 4% end-tidal (1. 0 MAC) isoflurane anesthesia.

MAC

anesthesia


Input: In a cross-sectional, hospital-based setting, we compared the amino acid sequences of NS5A-PKR-binding domain and E2-PePHD in the sera of 104 chronic hepatitis, 44 cirrhosis and 96 HCC patients.

PKR

chronic hepatitis


Input: However, no significant allelic associations were detected between the STR and either the combined mood disorders (P = 0. 885), the unipolar group (P = 0. 296), or the bipolar group (P = 0. 605).

STR

mood disorders


Input: Recent studies have established links between DDR and the oncogenic kinase AKT1, which is upregulated in about 50% of sporadic breast cancers.

DDR

sporadic


Input: Because PRIMA1 anchors acetylcholinesterase in neuronal membranes, decreased expression could result in decreased enzyme function and increased cholinergic transmission, consistent with a role in MDD.

MDD

MDD


Input: BCL-2/adenovirus E1B-19 kDa-interacting protein 3 (BNIP3) represents a paradigm of a cell death protein that is hypoxically upregulated via HIF-1 in most cancers.

adenovirus


Input: Focal adhesion kinase enhances signaling through the Shc/extracellular signal-regulated kinase pathway in anaplastic astrocytoma tumor biopsy samples.

Focal adhesion kinase

anaplastic astrocytoma


Input: Peritonitis due to group A Streptococcus (GAS) and toxic shock syndrome occurred in a previously healthy 45-year-old woman with an intrauterine device.

GAS

toxic shock syndrome


Input: Guidelines recommend initial evaluation of the tumour with immunohistochemistry or microsatellite instability testing followed by germline testing for mutations in MMR genes in those with abnormal results.

MMR

microsatellite instability


Input: To accomplish this, we constructed a recombinant adenoviral vector encoding the CEA cDNA inserted downstream of a cytomegalovirus (CMV) promoter (AdCMVCEA).

CEA

cytomegalovirus


Input: Oligoclonal expansions of CD4 + and CD8 + T-cells in the target organ of patients with biliary atresia.

biliary atresia


Input: In this model, increments in FGF23 and MEPE, respectively, cause renal phosphate wasting and intrinsic mineralization abnormalities.

abnormalities


Input: By using conditions that limited the progression of the poxvirus replication cycle, we observed that early gene transcripts activated PKR in RK13 cells, identifying a new PKR-activating mechanism of poxvirus infection.

PKR

poxvirus infection


Input: Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR, from 3 probands with ND, and from some of their family members.

NDP

ND

NDP

ND


Input: There was a trend found among the majority of homozygous A and G variants in LEP-2548 G/A and LEPR 668 A/G in over-weight and obese individuals in comparison to normal-weight subjects (CG).

LEPR

weight


Input: Reduced protein expression of Mcl-1, cyclin D1, phosphorylated retinoblastoma protein pRB (T821), and significant transcriptional down-regulation of genes related to cellular proliferation and survival were shown in some patients posttreatment, indicative of cell cycle modulation by seliciclib, more specifically inhibition of cdk2/cyclin E, cdk7/cyclin H, and cdk9/cyclin T. Brief treatment with this regimen of seliciclib in patients with nasopharyngeal carcinoma is tolerable at 400 mg bd and associated with tumor pharmacodynamic changes consistent with cdk inhibition, and warrants further efficacy studies in this tumor.

cyclin H

nasopharyngeal carcinoma


Input: LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.

LGI1 gene

sporadic


Input: These studies establish NAB2-STAT6 as the defining driver mutation of SFT and provide an example of how neoplasia can be initiated by converting a transcriptional repressor of mitogenic pathways into a transcriptional activator.

SFT

SFT


Input: The association between variation in fat oxidation rates among obese subjects and genotype was studied for 42 common single-nucleotide polymorphisms (SNPs) in 26 candidate genes for fat oxidation, insulin resistance, and obesity, including FTO.

FTO

insulin resistance


Input: Loss of Ptf1a alone is sufficient to induce acinar-to-ductal metaplasia, potentiate inflammation, and induce a KRAS-permissive, PDAC-like gene expression profile.

metaplasia


Input: Another keratin, and possibly the type I partner of K6hf, could be responsible for loose anagen hair syndrome in other patients, or the gene involved may be a minor gene.

loose anagen hair syndrome

loose anagen hair syndrome


Input: TBI containing conditioning regimens, body mass index > or = 25, and methylenetetrahydrofolate reductase 677 TT genotype were found to be predictive of higher mean OMI scores (P <. 05).

OMI

body mass index


Input: The results revealed that EEET increased myocardial hypertrophy (LV weight/tibial length), myocyte cross-sectional area, hypertrophy-related pathways (IL6/STAT3-MEK5-ERK5, calcineurin-NFATc3, p38 and JNK MAPK), hypertrophic markers (ANP/BNP), pro-apoptotic molecules (cytochrome C, cleaved caspase-3 and PARP), and fibrosis-related pathways (FGF-2-ERK1/2) and fibrosis markers (uPA, MMP-9 and-2).

cytochrome C

fibrosis


Input: P450scc was transcriptionally regulated in Y-1, MA-10, and C6 glioma cells, but not in GC or GT1-7 cells.

glioma


Input: RLIP76 homozygous knockout mice exhibit increased insulin sensitivity, hypoglycemia, and hypolipidemia, and resist cancer development.

hypoglycemia


Input: We identified a novel missense mutation of the KRT12 gene in Meesmann corneal dystrophy.

Meesmann corneal dystrophy

Meesmann corneal dystrophy


Input: The expression of TWEAK and TNF-α protein was stronger in cholesteatoma tissue than in EAC skin.

TWEAK

cholesteatoma


Input: Several studies report association of alpha-4 nicotinic acetylcholine receptors (encoded by CHRNA4) with nicotine dependence (ND).

nicotine dependence


Input: The ERG shows abnormalities associated with carrier status in this family with a single exon deletion.

ERG

abnormalities


Input: These results suggest that downregulation of ENO-1 could be utilized as a novel pharmacological approach for overcoming 4-OHT resistance in breast cancer therapy.

breast cancer

breast cancer


Input: We have established an unusual human NB cell line (NBL-S) from the primary tumor of a patient with rapidly progressive disease which lacks N-myc amplification.

NBL

rapidly progressive


Input: Lipocalin-2 levels correlated with insulin resistance (homeostasis model assessment of insulin resistance) and inflammation (CRP) in whole cohorts and NAFLD, whereas cathepsin S and chemerin only correlated positively with insulin resistance and inflammation in whole cohorts.

chemerin

insulin resistance


Input: This study investigated the serum vascular endothelial growth factor (VEGF) levels in children with community-acquired pneumonia.

VEGF

community-acquired pneumonia


Input: MMR alterations are involved in the development of both hereditary and sporadic forms of colorectal carcinoma related to ulcerative colitis (UC).

MMR

ulcerative colitis


Input: Compared with control LPMC, Crohn' s disease (CD) LPMC exhibited significantly higher levels of LAK cell activity, whereas ulcerative colitis (UC) cells showed significantly lower levels of cytolytic activity with a difference in the frequency of CD3 +, CD56 + and CD3 +, CD56 + LAK precursor cells.

LAK

ulcerative colitis


Input: Metformin improves the angiogenic potential of human CD34 ⁺ cells co-incident with downregulating CXCL10 and TIMP1 gene expression and increasing VEGFA under hyperglycemia and hypoxia within a therapeutic window for myocardial infarction.

VEGFA

hypoxia


Input: TTR-mediated amyloid cardiomyopathies are chronic and progressive conditions that lead to arrhythmias, biventricular heart failure, and death.

TTR

biventricular heart failure


Input: We obtained a total of 137, 706 expressed tags (Gene Expression Omnibus accession number GSE 545, SAGE Hiroshima gastric cancer tissue), including 38, 903 that were unique.

GSE

gastric cancer


Input: Given the retinal vascular phenotype observed in persons with NF1, we hypothesize that preserving neurofibromin may be a novel strategy to control pathologic retinal neovascularization.

neurofibromin

retinal neovascularization

neurofibromin

retinal neovascularization


Input: The percentage of FGFR1 mRNA + cells was higher in depression (CA1 and CA4) and schizophrenia (CA4) than in controls.

depression


Input: In view of recent studies highlighting the prognostic relevance of expression and CpG island methylator phenotype (CIMP) of Bcl-2/adenovirus E1B 19 kDa-interacting protein 3 (BNIP3) in invasive duct cell carcinoma (IDC), we hypothesized in this article that impaired one-carbon metabolism might influence CIMP phenotype of BNIP3.

adenovirus


Input: The VEGF-Rs and VEGFs expression levels were increased by an incubation under hypoxic conditions in NCI-H82.

VEGF

hypoxic


Input: The present study aimed to assess the prevalence of NKX2. 5 mutations in Italian patients with sporadic non-syndromic and syndromic CHD, as well as to appraise any genotype-phenotype correlations.

NKX2. 5

sporadic


Input: At the mRNA level, CTGF expression was increased after TL, and decreased in the teratogen model of CDH and lung hypoplasia after nitrofen administration.

CTGF

lung hypoplasia


Input: The model with the best fit combined 8 covariates, including the 5 clinicopathological variables prostate specific antigen, Gleason score, pathological stage, lymph node involvement and margin status, and 3 single nucleotide polymorphisms at the KLK2, SULT1A1 and TLR4 genes.

fit


Input: A mutation in the gene encoding for Cdk4, Cdk4R24C, causes this kinase to be insensitive to INK4 cell cycle inhibitors and induces beta cell hyperplasia in Cdk4R24C knockin mice.

hyperplasia


Input: Competitive ELISAs for measuring total BSP, DSPP, MEPE, and OPN were applied to a test group of 102 subjects with prostate cancer and 110 normal subjects and a validation group of 90 subjects.

MEPE

prostate cancer


Input: To understand the role of aberrant expression of AQP in this disease, we over-expressed AQP3 and AQP9 in human melanoma WM266. 4 cells and found that both AQPs significantly increased the chemoresistance of WM266. 4 cells to arsenite.

melanoma


Input: Compared with WT mice with CHF, brain-selective ACE2 overexpression attenuated left ventricular end-diastolic pressure; decreased urinary norepinephrine excretion; baseline renal sympathetic nerve activity (WT CHF: 71. 6 ± 7. 6% max versus SA CHF: 49. 3 ± 6. 1% max); and enhanced baroreflex sensitivity (maximum slope: WT sham: 1. 61 ± 0. 16%/mm Hg versus SA CHF: 1. 51 ± 0. 17%/mm Hg).

diastolic pressure


Input: Low expression of RUNX3 may have an important role in aggressiveness, lymph node metastasis and neural invasion in pancreatic cancer.

aggressiveness


Input: Sequences just upstream of the new bcl-2 breakpoints suggest a mechanism of translocation that may include minisatellite core-mediated recombination.

translocation


Input: GPR26 is highly expressed in fetal and adult brain, but frequently reduced or absent in glioma cells and biopsies, due to de novo methylation of its 5' CpG island.

glioma


Input: Phosphatase and tensin homologue (PTEN) loss and activation of the Akt-mammalian target of rapamycin (mTOR) pathway increases mRNA translation, increases levels of the antiapoptotic protein FLIP (S), and confers resistance to tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)-induced apoptosis in glioblastoma multiforme (GBM).

tensin

glioblastoma multiforme


Input: The genes that correlated most highly with arthritis severity included those for collagen triple-helix repeat-containing 1 (Cthrc1), metalloproteinase (Adamts12), R-spondin (Rspo2), and syndecan (Sdc2) (r = 0. 87-0. 91).

arthritis


Input: Treatment of mice with gefitinib 4 wk after the induction of TGF-alpha prevented further increases in and partially reversed total collagen levels and changes in pulmonary mechanics and pulmonary hypertension.

TGF-alpha

pulmonary hypertension

TGF-alpha

pulmonary hypertension


Input: However, miR-183 yielded an area under the curve (AUC) of 0. 808 with 59. 8% sensitivity and 91. 8% specificity in discriminating HCC from benign liver diseases (CH and LC) or NC.

HCC

liver diseases


Input: Increased expression of BRG1 but not BRM protein was observed in invasive cancer cells.

invasive cancer


Input: In consequence, we hypothesized that fibrinogen (Fg) might play a critical role in this process and, accordingly, we found that defibrination of animals decreased both the acute phase proteinuria in NTN (approximately 70%) as well as the influx of PLTs and PMNs into the glomerulus (approximately 40-50%).

NTN

proteinuria


Input: Circulating GPC-3 mRNA was detected in 70. 7% of HCC tissues, with relation to TNM stage, periportal cancerous embolus, and extra-hepatic metastasis (P < 0. 001).

GPC

embolus


Input: IGF-I and INS variable number tandem repeat genotype were not associated with birth weight.

IGF-I

birth weight


Input: ]-1beta (β), IL-6, IL-8, IL-10, and tumor necrosis factor-alpha) in the presence of azithromycin in EB-stimulated cells from both fertile and infertile women with primary and recurrent C. trachomatis infection.

infertile


Input: The seminal observations leading to these discoveries were the following: 1) mutations in FGF23 cause ADHR by limiting cleavage of the bioactive intact molecule, at a subtilisin-like protein convertase (SPC) site, resulting in increased circulating FGF23 levels and hypophosphatemia; 2) mutations in DMP1 cause ARHR, not only by increasing serum FGF23, albeit by enhanced production and not limited cleavage, but also by limiting production of the active DMP1 component, the C-terminal fragment, resulting in dysregulated production of DKK1 and β-catenin, which contributes to impaired bone mineralization; and 3) mutations in PHEX cause XLH both by altering FGF23 proteolysis and production and causing dysregulated production of DKK1 and β-catenin, similar to abnormalities in ADHR and ARHR, but secondary to different central pathophysiological events.

abnormalities


Input: Asperger disorder (ASP) is one of the autism spectrum disorders (ASD) and is differentiated from autism largely on the absence of clinically significant cognitive and language delays.

ASP

autism


Input: Gross morphological abnormalities of the kidney, including altered size, weight, texture, and color, are evident in LRRK2-/-mice at 3-4 months of age, along with increased accumulation of autofluorescent granules in proximal renal tubules.

abnormalities


Input: This prompted us to investigate the role of MuRF1 in two independent mouse models of cardiac atrophy: 1) cardiac hypertrophy regression after reversal of transaortic constriction (TAC) reversal and 2) dexamethasone-induced atrophy.

constriction


Input: Vascular endothelial growth factor (VEGF) mRNA levels are increased in GBM and moderate in PA. Immunohistochemical study showed that cytoplasmic AM, VEGF and HIF-1α nuclear immunoreactivity were recorded in GBM located near large necrotic areas whereas they were not expressed by PA tumour cells.

VEGF

necrotic


Input: A definitive diagnosis of ATTR depends on the detection and identification of TTR variants.

TTR

ATTR

TTR

ATTR


Input: In addition, underweight during course of the disease (p = 0. 012) was associated with NOD2 variants.

underweight


Input: Ratios of their 17. 5-kDa (mutant)/22-kDa (normal) GH1 transcripts were determined in cultured lymphocytes (CLs), and these ratios were correlated with height sd scores obtained before GH replacement therapy.

height


Input: The two major signalling cascades activated by the gp130 receptor, SHP2/ERK and STAT pathways, have been demonstrated to play important roles in cardiac development, hypertrophy, protection and remodelling in response to physiological and pathophysiological stimuli.

ERK

hypertrophy


Input: The level of VEGF mRNA in HCC tissues, however, did not significantly correlate with tumor size, cellular differentiation, capsule, daughter nodules, vascular permeation, necrosis and hemorrhage of tumors.

VEGF

necrosis


Input: The aim of this study was to evaluate the abnormalities of p53, Mdmx and Mdm2 genes in archived breast cancers.

Mdmx

abnormalities


Input: Conversely, chloroquine-treated VCPR155H/+ mice revealed progressive muscle weakness, cytoplasmic accumulation of TDP-43, ubiquitin-positive inclusion bodies and increased LC3-I/II, p62/SQSTM1, and optineurin expression levels.

optineurin

progressive muscle weakness


Input: Here we report a 7-year-old Japanese boy with a heterozygous missense mutation in COL2A1, 2582G & gt; T (Gly861Val), whose phenotype matched that of SMD-A.

SMD-A

SMD-A


Input: The alteration of MALT1 by translocation strongly suggests that this gene plays an important role in the pathogenesis of MALT lymphoma.

translocation


Input: Preclinical low field MRI was able to monitor efficacy of suicide gene therapy in delaying the tumor growth in an in vivo mouse model of orthotopic glioblastoma.

MRI

glioblastoma


Input: RCAN1-1L levels can also be increased by multiple chronic stresses and by glucocorticoids, both of which can cause neurodegeneration.

neurodegeneration


Input: Phenotypes with greatest genetic similarity were asthma and atopy (0. 46), IgE and eosinophilia (0. 44), AHR and D. pter (0. 43) and AHR and airway obstruction (-0. 43).

AHR

airway obstruction


Input: IL-8 > IL-6 in patients with bacterial keratitis; IL-8 > IL-6 > IL-1β and increased frequency of circulating CD3-CD56 + NK cells in patients with gram-negative keratitis; and IL-8 = IL-6 > IL-1β in patients with fungal keratitis.

fungal keratitis


Input: ANOVA shows that apoE polymorphism effects were quite similar before and after alcohol withdrawal on all serum Apos and Lps (the interaction term between withdrawal and apoE genotype was not significant).

ANOVA

alcohol withdrawal


Input: The sensitivity and clinical utility of the polymerase chain reaction (PCR) assay for the detection of BCR-ABL gene rearrangement was compared to conventional cytogenetics for the Philadelphia chromosome (Ph1) in adult acute lymphoblastic leukemia (ALL) patients entered onto a single clinical trial.

adult acute lymphoblastic leukemia


Input: Our findings indicate that GNPAT, SUMO1, SPINT2, FLI1, and SSX1 play critical roles in synergy with inflammation pathways in modulating melanoma cell survival and could serve as sensitizing targets to enhance CDDO-Me efficacy in melanoma growth control.

inflammation


Input: These results indicate that PIGT mutations caused neurological impairment and multiple congenital anomalies in this patient.

PIGT

neurological impairment


Input: For rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis and osteoarthritis diseases, those common factors include TNFSF10, CX3CR1, LY96, TLR5, TXN, TIA1, PRKCH, and PRF1.

PRKCH

spondylitis


Input: Nine of these tumors (1 ESN, 8 ESSs, and 1 UES) exhibited unusual histologic features, including smooth muscle (3), sex cord (7), epithelioid (1), fibromyxoid (1), and skeletal muscle (2) differentiation.

ESSs

tumors


Input: Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutation carriers (23 MSH2, 5 MLH1 and 4 MSH6) enrolled in the Australasian, Mayo Clinic and Ontario sites of the Colon Cancer Family Registry were examined for clinico-pathologic features and MMR-deficiency (immunohistochemical loss of MMR protein expression and high levels of microsatellite instability; MSI-H).

MMR

microsatellite instability


Input: RER was detected in 11. 5% of gastric carcinomas, at one or more microsatellite repeat loci.

RER

carcinomas


Input: The angiogenic response in aged rats was further diminished by the persistent upregulation of " inflammatory " genes (Cxcl12, Mmp8, Mmp12, Mmp14, Mpeg1, Tnfrsf1a, Tnfrsf1b) and vigorous expression of genes required for the buildup of the fibrotic scar (Cthrc1, Il6ra, Il13ar1, Il18, Mmp2, Rassf4, Tgfb1, Tgfbr2, Timp1).

scar


Input: Tumor suppressive activity of a variant isoform of manganese superoxide dismutase released by a human liposarcoma cell line.

manganese superoxide dismutase

liposarcoma


Input: MRI did not show frank APH (by height criteria) in any of the subjects: pituitary height was normal (5. 6 mm, + 1. 8 SDS) in the oldest sibling, and it was low but not below 2 SDS by age-adjusted criteria in the second (3 mm,-1. 4 SDS), and third sibling (2. 8 mm,-1. 7 SDS).

MRI

height


Input: Duration of HCV infection, age at infection, current age, route of infection, viral genotype, alcohol consumption, fibrosis stage and inflammatory score were not correlated with ANA + or ANA pattern.

ANA

infection, viral


Input: Patients with microduplications including NSD1 appear to have a consistent phenotype consisting of short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion.

short palpebral fissures


Input: In the present case report, we describe an 18-year-old male with mild intellectual disability, short stature, and mosaicism for a 0. 422 Mb deletion on 2q24. 2 that was diagnosed by comparative genomic hybridization and confirmed with fluorescent in situ hybridization (FISH).

FISH

short stature


Input: Four IFN-treated patients presented clinical thyroid disorders, including autoimmune hypothyroidism (n = 2), transient thyrotoxicosis (n = 1) and subacute thyroiditis (n = 1).

IFN

subacute thyroiditis


Input: Patients were divided into three groups on the basis of their funduscopic and electroretinographic features: (1) a normal ERG by the standards of the laboratory; (2) minimal rod or cone abnormalities; (3) severe ERG dysfunction.

ERG

abnormalities


Input: Activation of AKT is a complex process involving translocation to the plasma membrane and phosphorylation of serine and threonine amino-acid residues.

AKT

translocation


Input: Mean chromosome abnormalities in dual-translocation FLs and DLBCLs did not differ from IgH/BCL2 FLs and DLBCLs.

translocation


Input: Functional experiments were carried out to check whether ectopic expression of ΔNp73 modifies the proliferation, drug resistance, migration, and invasion properties of colon tumor cells and the expression of ABCB1, HMGB1, and CASP1.

colon tumor


Input: CONCLUSIONS: The majority of rare EGFR mutations was associated with smoking, shorter overall survival, and decreased TKI response when compared with classic EGFR mutations.

EGFR

smoking


Input: In the light of these findings, we suggest that the increase in expression of Mn-SOD, ROS production and oxidative damage in affected tissues may play an important role in the pathogenesis and progression of the CPEO syndrome.

Mn-SOD

CPEO

Mn-SOD

CPEO


Input: Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder predisposing to gastrointestinal hamartomatous polyps and cancer with a pathogenic SMAD4 or BMPR1A germline mutation (1st-hit) being identified in about 40-50% of patients.

hit


Input: We conclude that the HMGA1a-induced aberrant exon skipping is caused by impaired dissociation of U1 snRNP from the 5' splice site, leading to a defect in exon definition.

dissociation


Input: Three new heterozygous mutations clustered on one allele of the CDMP1 gene were identified in the affected individuals resulting in the first familial case with dominant Du Pan syndrome.

Du Pan syndrome

Du Pan syndrome


Input: These findings suggest that tumor development, including neovascularization and invasion in clear-cell RCCs, might be regulated by SPARC from stromal endothelial cells and fibroblasts and that sarcomatoid transformation from common-type RCCs is associated with upregulation of SPARC expression; SPARC may contribute to its aggressive tumor phenotype.

SPARC

neovascularization


Input: The hypoxic induction of PFKFB4 mRNA was equivalent to the expression of PFKFB3, Glut1, and VEGF, which are known HIF-1-dependent genes.

VEGF

hypoxic


Input: This study evaluated SAS gene amplification, and MDM2 and CDK4 protein expression in 20 tumor samples of central low-grade osteosarcoma (16 primary, 3 recurrences, 1 lung metastasis).

SAS

lung metastasis


Input: In the infertile group without endometriosis, single-marker analysis revealed statistical difference for rs2280883 and rs2232368 FOXP3 polymorphisms.

infertile


Input: Elevated OPN, IP-10, and neutrophilia in loop-mediated isothermal amplification confirmed tuberculosis patients.

neutrophilia


Input: We hypothesized that expression of the EAATs and the EAAT regulating proteins ARHGEF11, JWA, G-protein suppressor pathway 1 (GPS1), and KIAA0302 are altered in the brain in schizophrenia.

schizophrenia

schizophrenia


Input: Consistent with these results, overexpression of phosphotyrosine interaction domain-containing protein 1 (PID1) in human myoblasts resulted in reduced insulin signaling and glucose uptake, whereas knockdown of PID1 enhanced glucose uptake and insulin signaling in human myoblasts and improved the insulin sensitivity following palmitate-, TNF-α-, or myostatin-induced insulin resistance in human myoblasts.

insulin sensitivity


Input: In 1833 cells in vitro, COX-2 signaling pathway was critical for nuclear HIF-1α-protein expression/translocation, mechanisms determining HIF-1 activity and gene expression.

translocation


Input: In a survival analysis, patients homozygous for CYP2B6 * 5 (n = 3) or CYP2C19 * 2 (n = 4) had a higher probability of reaching ESRD (P = 0. 0005) and of doubling the creatinine level (P = 0. 0005) as well as a trend toward a lower probability of achieving a complete renal response (P = 0. 051).

ESRD

ESRD


Input: Our data suggest a defective G (1)/S checkpoint in cells from BRCA1 heterozygotes in response to UVA although this is not reflected in genomic instability as measured by micronuclei induction after oxidative stress or MMC treatment.

genomic instability


Input: Overexpressions of SUMO-1 were detected in HCC cell lines and clinical HCC samples, while the expression level of SUMO-1 in the non-neoplastic liver tissues was significantly lower (P < 0. 001).

HCC

non-neoplastic


Input: Identification of all WD mutations will undoubtedly increase our understanding of the normal function of ATP7B as well as lead to more accurate prognosis and genetic counseling.

WD

WD


Input: More recently, SOX2 was shown to participate in reprogramming of adult somatic cells to a pluripotent stem cell state and implicated in tumorigenesis in various organs.

tumorigenesis


Input: Adhesion proteins contribute to the regulation of metastasis, and thus this study sought to investigate the role of radixin in the migration, invasion and adhesion of gastric cancer cells, as well as its interaction with adhesion proteins in vitro.

radixin

adhesion


Input: Our results suggest that HARP may act in a paracrine manner from mesenchymal to tumoral epithelial cells, and may play a role in the molecular mechanisms that regulate prostate tumor cell growth.

HARP

prostate tumor


Input: In order to define the molecular basis of progressive external ophthalmoplegia and parkinsonism, we screened for mutations in PEO1, ANT1, POLG genes and the whole mitochondrial genome in two families.

parkinsonism


Input: Genetic and environmental factors have been linked to the etiology of EGFR mutations and sensitivity to EGFR-TKIs in non-smoking NSCLC patients.

EGFR

smoking


Input: We show that combined Rae1 and Nup98 haploinsufficiency in mice results in premature separation of sister chromatids, severe aneuploidy and untimely degradation of securin.

aneuploidy


Input: Serum fasting plasma glucose (FPG), post-prandial plasma glucose (PPG), glycated haemoglobin (HbAlc), fasting serum insulin (FINS), post-prandial serum insulin (PINS), triglyceride (TG), total cholesterol (CHO), homeostasis model assessment of insulin resistance (HOMA-IR), low-density lipoprotein-cholesterol (LDL-C) and high-density lipoprotein-cholesterol (HDL-C) were determined before and after repaglinide treatment.

PINS

insulin resistance


Input: Normal platelets resuspended in MPS platelet-poor plasma (PPP) did not undergo SPA, whereas MPS platelets resuspended in normal PPP or Ca2 +-free, fibrinogen-free Tyrode' s continued to show SPA.

fibrinogen


Input: We conclude that the novel R840 mutation in the androgen receptor is the cause of partial androgen insensitivity syndrome in this Brazilian family.

androgen receptor

partial androgen insensitivity syndrome

androgen receptor

partial androgen insensitivity syndrome


Input: We report that biallelic mutations in TBCD, encoding one of the five co-chaperones required for assembly and disassembly of the & #945; & #946;-tubulin heterodimer, the structural unit of microtubules, cause a disease with neurodevelopmental and neurodegenerative features characterized by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin corpus callosum, developmental delay, intellectual disability, seizures, optic atrophy, and spastic quadriplegia.

TBCD

optic atrophy

TBCD

optic atrophy


Input: Unique mutations of Bruton' s tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.

Bruton' s tyrosine kinase

X-linked agammaglobulinemia

Bruton' s tyrosine kinase

X-linked agammaglobulinemia


Input: Moreover, sporadic female FLN1 mutations associated with PH appear to cause either severe or partial loss of function.

sporadic


Input: (P387) TSP-4 and its fragment (residues 326 to 722), but not the A (387) forms, suppressed EC adhesion and proliferation.

TSP

adhesion


Input: This study found a strong association between the HO-1 variable number tandem repeat polymorphism and cardiovascular disease risk confined to subjects with a high number of repeats on both HO-1 alleles and provides evidence for accelerated atherogenesis and decreased antioxidant defense in this vascular high-risk group.

atherogenesis


Input: At age 6 years she was readmitted for severe ataxia and blindness, seizures, and severe developmental regression leading to NCL (neuronal ceroid lipofuscinosis) suspicion.

NCL

seizures


Input: To assess if single nucleotide polymorphisms (SNPs) across four genes that are relevant to methotrexate metabolism [folypolyglutamate synthase (FPGS), gamma-glutamyl hydrolase (GGH), methylenetetrahydrofolate reductase (MTHFR) and 5-aminoimidazole-4-carboxamide ribonucleotide transformylase (ATIC)] are related to treatment outcomes in patients with psoriasis.

ATIC

psoriasis


Input: miR-145 is differentially regulated by TGF-β1 and ischaemia and targets Disabled-2 expression and wnt/β-catenin activity.

β-catenin

ischaemia


Input: YC-1 inhibits HIF-1alpha expression in hypoxic pancreatic cancer cells, which is accompanied by the translocation of HIF-1alpha from nucleus to cytoplasm, decreased mRNA expression of VEGF and GPI, reduced cell proliferative vitality, and increased apoptosis.

VEGF

hypoxic


Input: The inhibition of APAP-induced apoptosis and K18 cleavage by the caspase inhibitor N-benzyloxycarbonyl-Val-Ala-Asp (OMe) fluoromethyl ketone are associated with increased hepatic damage, by a shift to necrotic cell death only.

necrotic cell death

necrotic cell death


Input: Importantly, several patients with the PM-scleroderma overlap syndrome had anti-C1D antibodies but no anti-PM-Scl antibodies.

overlap syndrome


Input: DC-CLM, a cadherin-like molecule cloned from human dendritic cells, inhibits growth of breast cancer cells.

CLM

breast cancer


Input: The possibility of using pharmacological agents to increase expression of AQP9 gene delivers the promise of new therapies for the treatment of leukemia.

leukemia

leukemia


Input: These data suggest that sst (2) regulates angiogenic responses to the hypoxic insult through a modulation of retinal levels of VEGF and its receptors.

VEGF

hypoxic


Input: Her second pregnancy ended with the spontaneous miscarriage of a fetus who had inherited the PHOX2B mutation, thus confirming germline mosaicism in the mother and the need of proper genetic counseling to CCHS families.

miscarriage


Input: These results demonstrate that bcl-2 and hypoxia can act synergistically to modulate VEGF expression and the in vivo angiogenic response in the MCF7 ADR line.

VEGF

hypoxia


Input: The recessive genes FGD4, PRX, MTMR2, SBF2, SH3TC2 and GDAP1 were mutated in patients presenting with early foot deformities and variable delay in motor milestones after an uneventful neonatal period.

foot deformities


Input: The observation of an accompanying large deletion, revealed by molecular characterization of the t (3; 20) translocation, is similar to the only other translocation reported in an AGS patient; a t (2; 20) translocation was also found to have a large deletion of the JAG1 region at 20p12.

translocation


Input: The TEL/AML1 fusion results from a t (12; 21) (p13; q22) chromosomal translocation, but was undetectable at the routine cytogenetic level.

chromosomal translocation


Input: Numbers of polymorphonuclear leucocytes and lymphocyte subsets, plasma concentrations of several acute phase reactants and cytokines, and gene expression levels of toll-like receptor 4 (TLR-4), interleukin 10 (IL-10) and heat shock protein beta 1 (HSPB1) were determined during and up to 24 h after treatment.

shock


Input: PPP vesicle fluid (PPP-VF) induced the expression of mRNAs encoding IL-17C, IL-8, IL-1α, and IL-1β in living skin equivalents, but the level of only IL-8 mRNA decreased significantly upon stimulation of PPP vesicle with depletion of endogenous hCAP-18/LL-37 by affinity chromatography (dep-PPP-VF).

vesicle


Input: Knowledge of the sequence and structure of the human GNAL gene provides essential information for further analysis of the GNAL locus at chromosome 18p11 which has been linked to bipolar disorder and schizophrenia.

GNAL

bipolar disorder

GNAL

bipolar disorder


Input: Analysis of polymorphism in locus of the gene of serotonin transporter (hSERT) was performed in men of Russian and Tatar nationalities with acute alcoholic psychoses by polymerase chain reaction.

serotonin transporter

alcoholic psychoses


Input: Knowledge on inter-scan variability of the normalized enhancement ratio of plaque (NER (plaque)) and relation between NER (plaque) and gadolinium content for inversion-recovery fast spin echo is limited.

NER

plaque


Input: Therefore, despite the low-allele frequencies of the risk alleles of the gene in our two Asian populations, ITGAM was confirmed to be a risk factor related to disease susceptibility and probably severe manifestations of SLE.

ITGAM

SLE

ITGAM

SLE


Input: Stabilization of tetrameric transthyretin (TTR) by binding of small ligands is a current strategy aimed at inhibiting amyloid fibrillogenesis in transthyretin-associated pathologies, such as senile systemic amyloidosis (SSA) and familial amyloidotic polyneuropathy (FAP).

SSA

polyneuropathy


Input: These data provide evidence that a human chromosome 1 locus, harboring the LEPR gene, contributes to plasma leptin concentrations, adiposity and body weight in humans affected with this insulin resistant dyslipidemic syndrome.

LEPR gene

body weight


Input: As compared with children whose fathers did not report a myocardial infarction, those whose fathers reported having had an infarction (n = 139) had a lower mean level of apolipoprotein A-I (137 vs. 141 mg per deciliter; P = 0. 04) and a lower ratio of low-density lipoprotein cholesterol to apolipoprotein B (1. 08 vs. 1. 11; P = 0. 007), along with a higher ratio of apolipoprotein B to apolipoprotein A-I (0. 64 vs. 0. 61; P = 0. 04).

apolipoprotein A-I

infarction


Input: Today, it is evident that tumor hypoxia is a common feature of many cancers and the master regulator of hypoxia, hypoxia-inducible factor-1 (HIF-1), regulates multiple aspects of tumorigenesis, including angiogenesis, proliferation, metabolism, metastasis, differentiation, and response to radiation therapy.

tumorigenesis


Input: These data demonstrate that KOR activation provides a similar degree of infarct size reduction as DOR activation.

DOR

infarct


Input: HIF-1alpha expression and VEGF secretion in glioma cell lines under normoxia and hypoxia were examined using ELISA and Western blot.

VEGF

hypoxia


Input: Our finding suggests that sensory gating is modulated by an interaction of TCF4 genotype with smoking, and both factors may play a role in early information processing deficits also in schizophrenia.

smoking


Input: Endoplasmic reticulum aminopeptidase 1 (ERAP1) exhibits functionally significant interaction with HLA-B27 and relates to subtype specificity in ankylosing spondylitis.

spondylitis


Input: Impaired DNA repair involving the nucleotide excision repair (NER)/transcription-coupled repair (TCR) pathway cause human pathologies associated with severe neurological symptoms.

NER

neurological symptoms


Input: In animal models, MV-ERV but not the control MV-Edm caused the regression of s. c. xenografts of resistant multiple myeloma tumors (MM1) in severe combined immunodeficient mice.

multiple myeloma


Input: Plaque suPAR levels correlated with plaque content of lipids and macrophages and with proinflammatory chemokines and cytokines monocyte chemoattractant protein 1, tumor necrosis factor α, interleukin 1β, interleukin 6, platelet-derived growth factor AB/BB, monocyte inflammatory protein 1β, regulated on activation normal T-cell expressed and secreted, and s-CD40L.

interleukin 6

plaque


Input: Disrupted SOX10 function causes spongiform neurodegeneration in gray tremor mice.

neurodegeneration


Input: AZIN2 was also detected in a vesicle-like distribution in the somas of selected cortical pyramidal neurons.

vesicle


Input: The features of these are 1) late onset of seizures, 2) good response to ACTH therapy, 3) no significant abnormalities of brain except for agenesis of corpus callosum.

ACTH

seizures

ACTH

seizures


Input: We intended to find significant correlations among morphological features, histological grades, immunohistochemical findings, and cytogenetical aberrations in malignant follicular lymphomas, in order to identify the prognostic and predictive value of the bcl-2/IgH translocation in these malignancies.

translocation


Input: These findings link the TREM2 missense mutation with specific molecular abnormalities and increases in neuropathological lesions in the human brain.

abnormalities


Input: Various classes of proteins were found either to be present or to be upregulated in keloid tissue: (i) inflammatory/differentiated keratinocyte markers: S100 proteins, peroxiredoxin I; (ii) wound healing proteins: gelsolin-like capping protein; (iii) fibrogenetic proteins: mast cell & #946;-tryptase, macrophage migration inhibitory factor (MIF); (iv) antifibrotic proteins: asporin; (v) tumour suppressor proteins: stratifin, galectin-1, maspin; and (vi) antiangiogenic proteins: pigment epithelium-derived factor.

gelsolin-like capping protein

keloid

gelsolin-like capping protein

keloid


Input: In a variety of microsatellite instability (MSI) positive cancers where mutations in the mismatch repair (MMR) genes were not observed, allelic imbalance at the loci of the MMR genes was prevalent.

MMR

microsatellite instability


Input: Methylation of genes regulating cell-cycle check-point (INK4 cyclin-dependent kinase inhibitors), apoptosis (XAF1), adhesion (CDH13), JUNB and Wnt signalling (soluble Wnt inhibitors) has been implicated in pathogenesis of haematological and epithelial cancers.

adhesion


Input: MLK7 is identical to leucine zipper and sterile-alpha motif protein kinase (ZAK) through the leucine zipper domain but has a completely divergent COOH-terminus and shares approximately 40% homology with the other MLKs overall.

ZAK

sterile


Input: Interestingly, FISH applied to 50 of these cases, as well as conventional cytogenetics available in 3 cases, revealed absence of the translocation t (14; 18) involving the BCL2 gene, which is present in about 15% of adult GCB subtype DLBCL.

BCL2 gene

translocation


Input: In addition, mice bearing SRG-transfected melanoma had more tumor formation and larger tumor growth.

SRG

melanoma


Input: CONCLUSIONS: Taken together, our findings point to TrkA as a candidate oncogene in MM and support a model in which the NGF-TrkA-MAPK pathway may mediate a trade-off between neoplastic transformation and adaptive anti-proliferative response.

NGF

neoplastic transformation


Input: Notably, we found intragenic deletions in one of three exons of the VHL gene and increased mRNAs of VEGF, PDGF-β, and IGF-1/2 in 56% of GISTs, suggesting a mechanistic link between VHL inactivation and overexpression of hypoxia-inducible factor target genes in the absence of hypoxia.

VEGF

hypoxia


Input: The Fbw7 and betaTRCP E3 ubiquitin ligases and their roles in tumorigenesis.

tumorigenesis


Input: Involvement of BH4 domain of bcl-2 in the regulation of HIF-1-mediated VEGF expression in hypoxic tumor cells.

VEGF

hypoxic


Input: We examined the interactions of BDNF, COMT and gender differences in terms of personality characteristics in PD.

COMT

personality characteristics


Input: In contrast, MVMi did not complete its life cycle in any of the human nervous cells, though it efficiently killed the astrocytic tumor cells by two types of nonproductive infections: (i) normal synthesis of all viral macromolecules with a late defect in infectious virion maturation and release to the medium in U373; and (ii) high levels of accumulation of the full set of viral messenger RNAs and of both nonstructural (NS-1) and structural (VP-1 and VP-2) proteins, under a very low viral DNA amplification, in U87 and SW1088 cells.

nervous


Input: This is mainly due to the high percentage of slow acetylator genotypes (SA) in patients compared with controls (60. 0 versus 38. 9%; P < 0. 02) with a distinct preponderance in subjects with minimal/mild endometriosis (69. 4%, P < 0. 005) where there is a significantly elevated frequency of slow allele S1 (NAT2 * 5) (P = 0. 05).

mild


Input: Mutations of the coding region of DCX were found in all reported pedigrees and in about 50% of sporadic female patients with subcortical band heterotopia.

DCX

sporadic


Input: Gene level disturbances in cellular and molecular networks impacted by alcohol and alcoholism pathology include transketolase (TKT), transferrin (TF), and myelin (e. g., MBP, MOBP, and MOG).

MBP

alcoholism

MBP

alcoholism


Input: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency


Input: Here, we investigate the impact of an alteration of HDAC6 expression in estrogen receptor alpha (ER)-positive breast cancer MCF-7 cells, as we identified that HDAC6 is a novel estrogen-regulated gene.

estrogen-regulated gene

breast cancer


Input: Increasing evidence implicates metabotropic glutamate receptor mGlu (7) in the pathophysiology of stress-related disorders such as depression and anxiety.

mGlu (7

depression

mGlu (7

depression


Input: Rs1800872 (AA vs. AC + CC genotype, OR = 1. 60; 1. 06-2. 39), rs1554286 (TT vs. CT + CC genotype, OR = 1. 59; 1. 06-2. 39), and rs3021094 (CC/CA vs. AA genotype, OR = 1. 64; 1. 04-2. 60) were all significantly associated with ischemic stroke even after controlling for age, sex, smoking, systolic blood pressure, total cholesterol, glucose, body mass index and serum IL-10.

systolic blood pressure


Input: These cases extend the experience with AHCY deficiency in humans, based until now on only the four patients previously identified, and suggest that the deficiency in question may be a cause of fetal hydrops and developmental abnormalities of the brain.

AHCY

abnormalities


Input: CD26 activity was stimulated by calcium-induced intercellular adhesion in keratinocytes, suggesting that the upregulation of CD26 in InvEE epidermis is due to expansion of the differentiated cell layers.

adhesion


Input: Bcl2-negative follicular lymphomas frequently have Bcl6 translocation and/or Bcl6 or p53 expression.

translocation


Input: Three heterozygous missense mutations in the motor domain of myosin 1c (Myo1c), which mediates adaptation in the inner ear, are associated with bilateral sensorineural hearing loss in humans.

bilateral sensorineural hearing loss

bilateral sensorineural hearing loss


Input: Our high mutation frequencies in EGFR exon 18 and KRAS and low mutation frequency in EGFR exon 21 are strikingly divergent from those in other smoking and never smoking populations from Asia.

EGFR

smoking


Input: Because DCN has been shown to deposit in arteries in cerebral small vessel disease, we tested whether BGN accumulates in arteries of CADASIL brains.

BGN

cerebral small vessel disease


Input: To examine the possibility that TTR SNPs affect specific components of the AD process, we tested association of these SNPs with four measures of neurodegeneration and cerebrovascular disease defined by magnetic resonance imaging (MRI) in a subset of 48 African American and 265 Caucasian sibships.

MRI

cerebrovascular disease


Input: We aimed to investigate the role of sphingosine-kinase (SphK) 1 and 2, the enzymes responsible for endogenous S1P production, on the induction of food allergy.

SphK

food allergy


Input: High-level amplification of eIF3-p40 was found in 30% of hormone-refractory prostate tumors and in 18% of untreated primary breast tumors.

breast tumors


Input: We report, for the first time, a possible involvement of MCTP2 as a potential novel susceptibility gene for schizophrenia.

schizophrenia

schizophrenia


Input: These results indicate that p70 (S6K) may play a critical role in tumor progression in ovarian cancer through the induction of EMT.

EMT

tumor progression


Input: A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).


Input: In PML patients, the higher concentration of MCP-1 correlated with lower JC viral load (r =-. 405, P =. 036).

viral load


Input: This hypotensive effect of neuropeptide Y upregulation was associated with reduced proteinuria and cardiac hypertrophy and fibrosis.

neuropeptide Y

fibrosis


Input: Levels of proliferation and activities of signal transduction molecules were examined in both GNG2-overexpressed and-depleted human malignant melanoma cells.

malignant melanoma


Input: In conclusion, thyroid mitogenic factor-stimulated GRK2 accumulation may explain, in part, high GRK2 levels in differentiated carcinoma, because TSH, insulin, or IGF-I is known to be involved in the thyroid cancer progression.

carcinoma


Input: These data suggest that SHH may have a role in human tumorigenesis.

SHH

tumorigenesis


Input: Mice lacking JunD (knockout [KO]) showed increased mortality and enhanced cardiomyocyte apoptosis and fibrosis associated with increased levels of hypoxia-induced factor-1alpha, vascular endothelial growth factor (VEGF), p53, and Bax protein and reduced levels of Bcl-2 protein after 7 days of severe pressure overload compared with wild-type (WT) siblings.

VEGF

hypoxia


Input: Combining the crucial role that zinc plays in cell growth and the proven role of metalloproteases in metastasis presents an exciting indication of how LIV-1 plays a role in breast cancer progression.

breast cancer

breast cancer


Input: Two patients with multiple osteochondromas demonstrated a germline mutation combined with loss of the remaining wild-type allele in three osteochondromas, indicating that, in cartilaginous cells of the growth plate, inactivation of both copies of the EXT1 gene is required for osteochondroma formation in hereditary cases.

multiple osteochondromas

multiple osteochondromas


Input: In colon epithelial cells (CCD 841, HT-29, Caco-2), direct application of 5-HT induced production of reactive oxygen species (ROS) and monocyte-epithelial adhesion, an initial event of inflammation, which were blocked not only by 5-HT receptor antagonists (tropisetron, RS39604, and SB269970), antioxidants (ascorbic acid, apocynin), and various inhibitors of NADPH oxidase (DPI), CREB (KG-501), and NF-κB (PDTC), but also by transfection with Nox2 siRNA.

DPI

inflammation


Input: Transformation of CREF cells with wild-type 5 adenovirus (Wt) results in transformed cells which display anchorage-independence and an increased saturation density in monolayer culture, but are non-tumorigenic in both athymic nude mice and syngeneic Fischer rats.

CREF

adenovirus


Input: As demonstrated with type 1 diabetic nephropathy, the GLUT1 Enh2 risk genotype, instead of XbaI, may be associated with type 2 diabetic albuminuria among European Americans, though an association is not conclusive.

albuminuria


Input: A deficiency of HCS is accountable for early onset biotin-responsive multiple carboxylase deficiency.

HCS

early onset biotin-responsive multiple carboxylase deficiency

HCS

early onset biotin-responsive multiple carboxylase deficiency


Input: In HCC cells, starvation also activated the phosphatidylinositol 3-kinase (PI3K)/AKT pathway, which blocks the translocation of DRAM to mitochondria through the binding of p-AKT to DRAM in the cytoplasm.

HCC

starvation


Input: Different mutations in the human Crumbs homolog-1 (CRB1) gene cause a variety of retinal dystrophies, such as Leber congenital amaurosis, early onset retinitis pigmentosa (e. g., RP12), RP with Coats-like exudative vasculopathy, and pigmented paravenous retinochoroidal atrophy.

atrophy


Input: Tannerella forsythia was detected in the deepest periodontal pockets in all subjects in the LAP and PAL groups.

PAL

periodontal pockets


Input: Chromogenic in situ hybridization (CISH) was performed in formalin fixed, paraffin embedded sections of uveal melanoma to analyze chromosome 1, 3, and 8 aberrations (n = 60).

CISH

uveal melanoma


Input: One such study has led to the identification and validation of two new genes, IL23R and ARTS1, in ankylosing spondylitis pathogenesis.

spondylitis


Input: In a model of chronic SiO (2) exposure, AhR activation by TCDD in C57Bl/6 mice resulted in reduced inflammation; however, the fibrotic response was not affected.

AhR

inflammation

AhR

inflammation


Input: Here we demonstrate that deletion of Lgr4/Gpr48 (G-protein-coupled receptor 48), a seven-transmembrane glycoprotein hormone receptor, potentiates TLR2/4-associated cytokine production and attenuates mouse resistance to septic shock.

septic shock


Input: Tissue factor-deficiency and protease activated receptor-1-deficiency reduce inflammation elicited by diet-induced steatohepatitis in mice.

protease activated receptor-1

inflammation

protease activated receptor-1

inflammation


Input: This result suggests that haplotypes of AhR gene play an important role in the development of lung cancer and there is a synergistic interaction between AhR gene and smoking for lung cancer risk.

AhR gene

smoking


Input: Signaling and adhesion events that are linked to cell migration such as p38 and ρ GTPase-family activation, F-actin polymerization, adhesion to fibronectin, and up-regulation of α5 integrin were also dependent on ADAM10 but not ADAM17.

adhesion


Input: Serum response factor enhances liver metastasis of colorectal carcinoma via alteration of the E-cadherin/beta-catenin complex.

Serum response factor

colorectal carcinoma


Input: In vitro antigenic stimulation of peripheral blood mononuclear cells from IgAN patients, healthy blood donors, and other nephropathies with microscopic hematuria showed that only in IgAN patients was CX3CR1 enhanced in a dose-dependent manner.

microscopic hematuria


Input: Hence, effects of hypoxia on FLT3 expression and biology could provide novel insight into AML biology.

hypoxia


Input: Although normotensive, cardiac hypertrophy was evident with obesity, and cardiac fibrosis more pronounced in obese GPx4 (+/-) mice.

cardiac hypertrophy


Input: Blood transcript levels of nine markers of ADCY3, DGKA, FAM46A, IGSF4A/CADM1, KIAA1539, MARCKS, PSME1, RAPH1 and TLR7, differed significantly between participants with MDD (N = 32) and ND controls (N = 32) at baseline (q & lt; 0. 05).

MDD

MDD


Input: Clinically, PGRN (+) cases had more frequent language impairment and parkinsonism.

PGRN

language impairment


Input: Of interest, hypoxic conditions dramatically upregulated VEGF expression at both the mRNA and protein levels.

VEGF

hypoxic


Input: Genetic mapping supported the diagnosis of typical Oguchi disease in a Pakistani family and also resulted in the identification of a novel nonsense mutation (c. 614C & gt; A; p. S205X) in exon 1 of GRK1.

Oguchi disease

Oguchi disease


Input: Our findings suggest that genetic variability in the leptin receptor and neuropeptide Y genes is implicated in body weight regulation, the LEPR Gln223Arg variant being associated with a BMI increase in this Caucasian population, especially in non-smokers, while the NPY Leu7Pro polymorphism was associated with BMI reduction in premenopausal women.

NPY

body weight


Input: To describe a family with 13 members in four generations affected by early-onset isolated painful arthritis limited to the first metatarsophalangeal (MTP) joint but without evidence of generalized joint disease at follow-up.

MTP

painful


Input: The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.

PMI

CDG Ib

PMI

CDG Ib


Input: During necrosis the dying tumor cells released apyrase-sensitive nucleotides, which effectively stimulated monocyte migration and chemokinesis.

apyrase

necrosis


Input: In addition, we analyzed mononucleotide repeat sequences (A8) in CUL2 in 55 colorectal and 45 gastric carcinomas with microsatellite instability (MSI).

microsatellite instability


Input: The t (14; 18) IgH-MALT1 translocation was demonstrated in only one case (3. 3%), and the t (11; 18) API2-MALT1 translocation was not found in any of the cases.

translocation


Input: We report a novel amino acid substitution mutation (asparagine--& gt; aspartic acid) in codon 192 at the conserved 1A helix initiation site of the rod domain of KRT2E in a Japanese family with ichthyosis bullosa of Siemens.

ichthyosis bullosa of Siemens

ichthyosis bullosa of Siemens


Input: As related to the dysregulated glutamatergic hypothesis of schizophrenia, the gene encoding VGLUT2 is the most plausible candidate involved in the pathogenesis of this illness.

schizophrenia

schizophrenia


Input: These findings suggest that IL-6 and LIF, but not CT-1, contribute to angiotensin II-dependent left ventricular hypertrophy in the two hypertensive rat models, TGR (mRen2) 27 and SHR.

LIF

left ventricular hypertrophy


Input: Results demonstrated that both liposomal transfer of HSP72 and thermal induction of HSP72 prevented NF-kappaB activation and translocation, TNF-alpha gene transcription, and subsequent ischemia-induced renal tubular cell apoptosis.

ischemia


Input: This mutation identifies a putative site for profibrillin to fibrillin processing, and is associated with isolated skeletal features of the Marfan syndrome, indicating that the FBN1 gene is one of the genes that determines height in the general population.

FBN1 gene

height


Input: In contrast, ATF3 or ATF4 overexpression in nucleus accumbens decreases emotional reactivity and increases depression-like behavior, consistent with the behavioral phenotype induced by CREB.

depression

depression


Input: Kaplan-Meier curves were used to estimate survival rates, and the Cox proportional hazard regression model was used to evaluate the prognostic impact of DNMT expression.

DNMT

regression


Input: D-2-hydroxyglutaric aciduria (D-2-HGA) is a very rare autosomal recessive metabolic disorder that has recently been associated with mutations in the D-2-hydroxyglutarate dehydrogenase gene.

D-2-hydroxyglutarate dehydrogenase

D-2-hydroxyglutarate dehydrogenase


Input: To dissect the genetic architecture of sporadic ALS, we undertook a large sequencing study in 755 apparently sporadic ALS cases and 959 controls, analyzing 10 ALS genes: SOD1, C9orf72, TARDBP, FUS, ANG, CHMP2B, ATXN2, NIPA1, SMN1, and UNC13A.

FUS

sporadic


Input: To examine the role of FKBP5-trauma interactions in the partly stress-related psychosis phenotype.

psychosis

psychosis


Input: Cyclon/CCDC68 might be involved in the immune system disturbances observed in schizophrenia.

schizophrenia

schizophrenia


Input: Altogether, these findings show that genetic alterations in DKC1 could contribute to tumorigenesis associated with somatic cancers and establish a critical role for DKC1 in tumor suppression, at least in part, through translational control of p27.

tumorigenesis


Input: The A allele of the TNF-alpha-308G > A gene polymorphism and the presence of α2-thal3. 7 kb were associated with an increase risk of splenic sequestration events (p =. 001; p =. 046), while the T allele of the IL-8-251A > T gene polymorphism was considered to be a protective factor for splenomegaly events (p =. 032).

splenomegaly


Input: We found decreased IGFBP-2 expression in bipolar disorder patients compared with controls; this was especially pronounced in subjects not treated with lithium.

bipolar disorder

bipolar disorder


Input: Risk factors that modulate the development of breast cancer discussed in this review include: age, geographic location (country of origin) and socioeconomic status, reproductive events, exogenous hormones, lifestyle risk factors (alcohol, diet, obesity and physical activity), familial history of breast cancer, mammographic density, history of benign breast disease, ionizing radiation, bone density, height, IGF-1 and prolactin levels, chemopreventive agents.

IGF

mammographic density


Input: We analyzed chromosomal, numerical, and structural changes after development of MDR, alterations in p53 and PTEN, single nucleotide polymorphisms (SNPs) in the mdr1 gene and corresponding protein expression of P-glycoprotein (P-gp) in three human MDR cancer cell lines: non-small cell lung carcinoma NCI-H460/R, colorectal carcinoma DLD1-TxR, and glioma U87-TxR.

glioma


Input: It was shown that mRNA isoforms for IGF-1A and IGF-1B were mainly expressed in samples with hyperexpression of YB-1 mRNA, and, on the contrary, practically were not expressed (except sporadic cases) in samples with low level of YB-1 mRNA expression.

sporadic


Input: The COL1A1/PDGFB translocation was detected in 93% of DFSP.

translocation


Input: The Ca (2 +)-activated Cl (-) channel, ANO1 (TMEM16A), is a double-edged sword in cell proliferation and tumorigenesis.

tumorigenesis


Input: In conclusion, MNU suppressed cell proliferation of MGMT-/hMLH1 + gallbladder carcinoma cells by arresting the cell cycle at the G2-M phase, accompanied by down-regulation of cyclin A and Cdc2.

cyclin A

gallbladder carcinoma


Input: Depletion of geminin led to overreplication and the formation of giant nuclei in cells that had wild-type or mutant p53.

giant


Input: Pin1 induction during liver fibrosis is involved in hepatic stellate cell activation, TGFβ1 expression, and TGFβ1-mediated fibrogenesis signalling.

liver fibrosis


Input: These responses are abrogated by inhibiting hypoxia-inducible transcription factor (HIF)-1α, indicating a causal role for this transcription factor in regulating Ntn1 and Unc5b expression in macrophages.

hypoxia


Input: Because TRPV1 and TRPA1 channels play important roles in controlling hyperalgesia in inflammatory pain models, we investigated their modulation by WIN and AM1241.

hyperalgesia

hyperalgesia


Input: The link of MUC1 to cell motility was further confirmed by the finding that depletion of MUC1 resulted in reduced expression of MMP13 and cell migration, invasion and adhesion.

adhesion


Input: A time course after infection of TPA-arrested cells using a c-Myc-expressing adenovirus revealed that the inhibition of p21 expression preceded entry into S-phase.

TPA

adenovirus


Input: In the present study, the regulation of sPLA2 secretion by two other members of the IL-6 cytokine family, oncostatin M (OSM) and leukaemia inhibitory factor (LIF), and the corticosteroid dexamethasone were investigated.

leukaemia


Input: There was no significant difference in both immunostainings for overexpression among the three histological subtypes of MM and the expression of CD146 and IMP3 was proportionally associated.

MM

MM


Input: The objective of this study was to clarify the expression and epigenetic regulation of DLEC1, a candidate tumor suppressor gene (TSG) located at 3p21. 3-p22, in oral squamous cell carcinoma (OSCC) and the clinical relevance of its down-expression.

squamous cell carcinoma


Input: Despite our study being sufficiently powered to detect effects similar to those previously reported, none of the FTO SNPs were found to be associated with obesity, overweight, BMI, waist circumference, or body fat percentage.

FTO

overweight


Input: Together, these findings suggest that the TGF-beta superfamily is part of an autocrine/paracrine system involved in the regulation of COX-2 expression in the distal pulmonary circulation, and this modulates hypoxia-induced pulmonary vascular cell proliferation.

TGF-beta

hypoxia


Input: Using specific antibodies, we studied specimens from 35 cases of ureteropelvic junction obstruction and 32 of normal ureteropelvic junction by immunohistochemistry using protein gene product 9. 5 (a general neuronal marker), S100 (a supporting cell marker), synaptophysin (a neuromuscular junction marker) and nerve growth factor receptor.

nerve growth factor receptor

ureteropelvic junction obstruction


Input: Patients with regressive autism had significantly higher percentages of 18: 0, 18: 2n-6 and total saturates in their RBC membranes compared to controls, while 24: 0, 22: 5n-6, 24: 1 and the 20: 4n-6/20: 5n-3 ratio were significantly higher in both regressive autism and ASP groups compared to controls.

ASP

autism


Input: The multivariate model showed associations of rs1801278 in IRS1 (P = 0. 029, OR = 0. 13), baseline viral load (P = 0. 006; OR = 4. 453) and baseline glucose levels (P = 0. 008, OR = 0. 926) with loss of limb fat, and rs2228671 in LDLR (P = 0. 012, OR = 0. 108), rs405509 in APOE (P = 0. 048, OR = 0. 205), baseline viral load (P = 0. 005, OR = 0. 186) and baseline CD4 + T cell count (P = 0. 01, OR = 1. 008) with gain of trunk fat.

viral load


Input: Here, we found that either genetic or pharmacological blockade of properdin, which we expected to be therapeutic, converted the mild C3 GN of an fH-mutant mouse to a lethal C3 GN with features of human dense deposit disease.

properdin

mild


Input: Although both hepatocyte growth factor (HGF) and vascular endothelial growth factor (VEGF) are potent angiogenic growth factors in animal models of ischemia, their characteristics are not the same in animal experiments and clinical trials.

HGF

ischemia


Input: Genetic variants in Cell Adhesion Molecule 1 (CADM1): a validation study of a novel endothelial cell venous thrombosis risk factor.

venous thrombosis


Input: EMT induction was found to occur in hypoxic HCC cells in a process that was dependent on the extracellular release of netrin-1.

hypoxic


Input: We conducted brain slice assays using U87-MG human glioma cells in which PTPµ expression was reduced by shRNA to induce migration.

glioma


Input: No tumours with EGFR mutations had any K-ras codon 12 mutations, which were well-known smoking-related gene mutations.

EGFR

smoking


Input: Pretreatment with infliximab, a blocking antibody for TNF-α, almost completely abolished the airway changes seen after LPS inhalation.

TNF-α

inhalation


Input: We found that HN3 and FaDu cells expressed strongly phosphorylated STAT3 on both tyrosine 705 and serine 727 residues as compared to other SCCHN cells.

SCCHN

SCCHN


Input: Overexpression of EMMPRIN, a member of the immunoglobulin superfamily, promotes invasion, metastasis, growth and survival of malignant cells.

EMMPRIN

metastasis

EMMPRIN

metastasis


Input: After 3 weeks, the mice were moved to a hypoxic chamber (10% oxygen) for 3, 12, 24, 48, 96, or 144 h. The expressions of HIF-1alpha, COX-2, and VEGF in vivo were then analyzed by Northern blot and immunohistochemistry.

VEGF

hypoxic


Input: These recent observations provide new insights into the relationship between alterations in cell polarity components and EMT in cancer, opening new avenues for their potential use as therapeutic targets to prevent tumour progression.

EMT

tumour progression


Input: Up-regulation of the v-Myb avian myeloblastosis viral oncogene homolog-like2 B-Myb (MYBL2) gene occurs in human hepatocellular carcinoma (HCC) and is associated with faster progression of rodent hepatocarcinogenesis.

v-Myb avian myeloblastosis viral oncogene homolog

hepatocarcinogenesis


Input: In contrast to downregulated OATP1B1, OATP1B3, OATP1A2 and OATP2B1 in cancerous vs. non-cancerous samples, an increase in OATP2A1, OATP3A1, OATP4A1 and OATP5A1 mRNA levels was seen in tumors (up to 40-fold for OATP5A1 in the MLT group).

tumors


Input: Finally, A3D8 induces apoptosis in all-trans-retinoic acid-resistant NB4-derived cells and in APL primary blasts, characterizing the A3D8 anti-CD44 mAb as a novel class of apoptosis-inducing agent in APL.

APL

APL


Input: In general, " mit-" mutations are responsible for non-RRF encephalopathies, while " syn-" and " rho-" mutations are associated with mitochondrial encephalomyopathies with RRF.

RRF

mitochondrial encephalomyopathies


Input: Expression of HIF-1 alpha, VEGF and EPO in peripheral blood from patients with two cardiac abnormalities associated with hypoxia.

VEGF

hypoxia


Input: On the contrary, the RER + phenotype was not detected in serous carcinomas and malignant mixed Müllerian tumors.

RER

carcinomas


Input: The current study investigates the role of cerebral peroxisome proliferator-activated receptor (s) gamma (PPARgamma) in the regulation of IL-6 expression in the peri-infarct cortical tissue in rats exposed to focal cerebral ischaemia.

peroxisome proliferator-activated receptor

infarct


Input: Mutations in the genes that encode the two proteins that coordinate this electrochemical conversion process (the DHPR and RyR1) result in a variety of skeletal muscle disorders including malignant hyperthermia (MH), central core disease (CCD), multiminicore disease, nemaline rod myopathy, and hypokalemic periodic paralysis.

DHPR

hypokalemic periodic paralysis


Input: Two novel mutations within the coding region of the NDP gene were found, one associated with a severe disease phenotypes of Norrie disease and the other with FEVR.

NDP

Norrie disease

NDP

Norrie disease


Input: Eight FUS mutation carriers were identified in five SALS (1%) and three FALS (7. 5%), five already known and three new mutations: a de novo mutation was identified in a sporadic subject as well as the co-presence of FUS/C9ORF72 mutations in a FALS subject.

FUS

sporadic


Input: The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.

breast tumors

breast tumors


Input: Loss of CDKN2B promotes p53-dependent smooth muscle cell apoptosis and aneurysm formation.

aneurysm


Input: The latter process should, however, be expected to occur since the hypoxic cores of tumor cell aggregates, under the control of HIF-1, are known to secrete cytokines (e. g., bFGF, VEGF) which attract fibroblasts and induce blood vessel formation.

VEGF

hypoxic


Input: In addition, resveratrol repressed nuclear factor kappa B (NF-& #954; B) activation and down-regulated mRNA expression of urokinase plasminogen activator (uPA) and its receptor in TNF-& #945;-treated glioma cells.

TNF

glioma

TNF

glioma


Input: The totality of the evidence currently implicates GPx1, GPx4, SEPS1, Sep15, SEPP1 and TXNRD1 in conditions such as cardiovascular disease, pre-eclampsia and cancer.

pre-eclampsia


Input: We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions 426 and 427 of exon 4 (this is predicted to alter the reading frame at leucine 80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position 636 leading to a cysteine substitution for glycine 150.

Dejerine-Sottas disease

Dejerine-Sottas disease


Input: A mutation has been identified in the Rab3A-interacting molecule (RIM1) gene in CORD7, an autosomal dominant cone-rod dystrophy that localises to chromosome 6q14.

cone-rod dystrophy


Input: This review discusses the regulation of CCN2 by TGF-β and hypoxia, two critical determinants that characterize the disc microenvironment, and discusses known functions of CCN2 in the disc.

TGF-β

hypoxia


Input: However, some patients with the classical XLI phenotype and complete STS deficiency do not show any detectable deletions by Southern blot analysis using full-length STS cDNA as a probe.

STS

XLI

STS

XLI


Input: This weight increase was associated with a 20% decrease in ACE2 activity in the thrombus.

weight increase


Input: CALM-AF10 mice infected with the MOL4070LTR retrovirus developed acute leukemia, and ligation-mediated polymerase chain reaction was used to identify retroviral insertions at 19 common insertion sites, including Zeb2, Nf1, Mn1, Evi1, Ift57, Mpl, Plag1, Kras, Erg, Vav1, and Gata1.

acute leukemia


Input: The enhanced VEGF gene transcription in TAMR-MCF-7 cells was suppressed by amurensin G. Molecular analyses using reporter genes with hypoxia response elements and activator protein-1 (AP-1) elements, and western blots revealed that the activities and the nuclear levels of hypoxia inducible factor-1 (HIF-1) α and AP-1 in TAMR-MCF-7 cells were decreased by amurensin G. Moreover, amurensin G concentration-dependently inhibited protein expression and gene transcription of Pin1 in TAMR-MCF-7 cells, which was dependent on E2F1 inhibition.

VEGF

hypoxia


Input: Three of the nine genes (VEGF, PAI-1, and LRP1) had been reported previously as pVHL targets and are known to be hypoxia-inducible.

VEGF

hypoxia


Input: Screening of a panel of 57 autosomal-recessive AI-affected families identified eight further families with loss-of-function mutations in C4orf26.

AI

AI


Input: We establish that the MEK-ERK signaling cascade regulates both SPC-induced keratin phosphorylation and reorganization in human pancreatic and gastric cancer cells and identify Ser431 in keratin 8 as the crucial residue whose phosphorylation is required and sufficient to induce keratin reorganization and consequently enhanced migration of human epithelial tumor cells.

SPC

gastric cancer


Input: We believe that our discovery of the role of Alox5 in regulating the function of LSCs in CML reminds us of viewing CSCs at a different angel.

CML

CML


Input: Here we examined the role of ASC in tumorigenesis of human melanoma.

ASC

tumorigenesis


Input: Annexin V staining revealed absence of apoptotic or necrotic cell populations after genistein treatment.

Annexin V

necrotic


Input: Hypoxic TSP1 null mice developed less right ventricular pressure and hypertrophy and markedly less arteriole muscularization compared with wild-type animals.

hypertrophy


Input: Female carriers of the deletion were affected with myopia and had ERG abnormalities and mild constriction of visual field.

ERG

abnormalities


Input: EGFR and gastrointestinal stromal tumor: an immunohistochemical and FISH study of 82 cases.

FISH

gastrointestinal stromal tumor


Input: In obese subjects, NOS3 4a (P = 0. 011) had a converse effect to NOS3 894T (P = 0. 043), and EDN1 8002T (P = 0. 035) on the prevalence of combined microangiopathy (neuropathy/retinopathy/nephropathy) vs. microangiopathy-negative subjects.

microangiopathy


Input: VEGF is induced in response to various stimuli including hypoxia; however, very little is known about the mechanisms that confine its induction to ensure proper angiogenesis.

VEGF

hypoxia


Input: Autoimmune hepatitis (AIH) is a rare disease, characterized by female predominance, hypergammaglobulinemia, autoantibodies, association with HLA DR3 and HLA DR4 and a good response to immunosuppression.

hypergammaglobulinemia


Input: DNA sequencing and fluorescent in situ hybridization with a MEN1 genomic DNA sequence probe each demonstrated one copy of the MEN1 gene to be deleted in the pituitary tumor and not in normal DNA, proving MEN1 " second hit " as a tumor cause.

MEN1 gene

hit


Input: Homology to other CYP450 proteins suggests that CYP4V2 may have a role in fatty acid and steroid metabolism, consistent with biochemical studies of patients with BCD.

BCD

BCD


Input: DISC1, a promising candidate susceptibility gene, encodes a protein which interacts with many other proteins, including CIT, NDEL1, NDE1, FEZ1 and PAFAH1B1, some of which also have been associated with psychosis.

psychosis

psychosis


Input: In GC, mRNA expression of Mst1, Lats1, Oct4, YAP1, TAZ, TEAD1 and CDX2 had a close correlation with lymphatic metastasis and tumor TNM stage (all P < 0. 01).

lymphatic metastasis


Input: Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.

depression

depression


Input: Active cdc2 accumulates in neurons containing neurofibrillary tangles (NFT), a process that can precede the formation of NFT.

neurofibrillary tangles


Input: Recently, Sox2 has been detected in several human tumors, indicating a potential function in tumorigenesis.

tumorigenesis


Input: Similarly, NET-KO mice displayed higher resistance to convulsions engendered by kainic acid.

NET

convulsions

NET

convulsions


Input: Therefore, decreased function of CREB in the central nucleus of the amygdala might regulate anxiety and alcohol intake via decreased expression of NPY, and might provide a common link between anxiety and alcohol abuse disorders.

NPY

alcohol abuse

NPY

alcohol abuse


Input: There was moderate statistical evidence for interactions for other shoulder pain phenotypes between additional genes (ADRB2, AVPR1 & #160; A, and KCNS1) and depressive symptoms, pain catastrophizing, or kinesiophobia.

depressive symptoms

depressive symptoms


Input: DFSP is characterized by a chromosomal translocation involving the collagen type I a 1 (COL1A1) gene on chromosome 17 and the platelet-derived growth factor B-chain (PDGFB) gene on chromosome 22.

chromosomal translocation


Input: Various classes of proteins were found either to be present or to be upregulated in keloid tissue: (i) inflammatory/differentiated keratinocyte markers: S100 proteins, peroxiredoxin I; (ii) wound healing proteins: gelsolin-like capping protein; (iii) fibrogenetic proteins: mast cell & #946;-tryptase, macrophage migration inhibitory factor (MIF); (iv) antifibrotic proteins: asporin; (v) tumour suppressor proteins: stratifin, galectin-1, maspin; and (vi) antiangiogenic proteins: pigment epithelium-derived factor.

pigment epithelium-derived factor

keloid

pigment epithelium-derived factor

keloid


Input: We report the establishment of three relational locus-specific databases recording allelic variation at the HEXA, HEXB, and GM2A genes and accessed at the GM2 gangliosidoses home page (http://data. mch. mcgill. ca/gm2-gangliosidoses).

gangliosidoses


Input: Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV) is a rare autosomal recessive disorder caused by a defect in neurotrophic tyrosine kinase receptor and nerve growth factor, as reported in previous studies.

tyrosine kinase receptor

autonomic neuropathy


Input: Danon disease is a rare X-linked lysosomal disease causing severe hypertrophic cardiomyopathy (LAMP2 cardiomyopathy) and an extremely poor prognosis in males, with several reported cases of sudden cardiac death despite the use of transvenous implantable cardioverter defibrillators (TV-ICD).

sudden cardiac death


Input: We have previously shown that treatment of human glioma U87-MG cells expressing wild-type p53 with a DNA topoisomerase II inhibitor, etoposide resulted in ceramide-dependent apoptotic cell death.

glioma


Input: Alteration of purinergic P2X4 and P2X7 receptor expression in rats with temporal-lobe epilepsy induced by pilocarpine.

P2X7 receptor

temporal-lobe epilepsy

P2X7 receptor

temporal-lobe epilepsy


Input: Collectively, these findings indicate that MMP7-catalyzed release of HBEGF mediates ACh-induced transactivation of EGFR and consequent proliferation of colon cancer cells.

HBEGF

colon cancer


Input: In summary, the results of the present study reveal that Pyk2 plays an important role in the pathogenesis of hypoxia-induced PH.

hypoxia


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

PPIA

schizophrenia

PPIA

schizophrenia


Input: In addition, although a number of genetic causes of autosomal dominant pulverulent cataracts have been identified (including CRYBB1) this is the first gene to have been implicated in autosomal recessive nuclear pulverulent cataract.

nuclear pulverulent cataract

nuclear pulverulent cataract


Input: Hereditary inclusion body myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult-onset, slowly progressive distal and proximal muscle weakness, which is caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme in the biosynthetic pathway of sialic acid.

GNE

proximal muscle weakness


Input: Although a significant role of TLR3/TLR4 in neurodegeneration is gaining certainty, their importance in establishing a causal link between prenatal infection and immuno-inflammatory, oxidative and nitrosative stress (IO & NS) responses and influence on adult presentation of schizophrenia is yet to be ascertained.

schizophrenia

schizophrenia


Input: Virus-specific memory CD8 T cells provide substantial protection from lethal severe acute respiratory syndrome coronavirus infection.

coronavirus infection


Input: Human neuropeptide Y signal peptide gain-of-function polymorphism is associated with increased body mass index: possible mode of function.

neuropeptide Y

body mass index


Input: This suggests that Dgcr8-microRNA-Drd2-dependent thalamocortical disruption is a pathogenic event underlying schizophrenia-associated psychosis.

psychosis

psychosis


Input: In univariate analyses, age (≥ 10 years), white blood cell counts (> 100 × 10 (9)/l), t (9; 22) (q34; q11), MLL rearrangements, near-haploidy and deletions of ATP10A, IKZF1, SPRED1 and the pseudoautosomal 1 regions on Xp/Yp were significantly associated with decreased 10-year event-free survival, with IKZF1 abnormalities being an independent risk factor in multivariate analysis irrespective of the risk group.

abnormalities


Input: Gene regulated in breast cancer 1 (GREB1) is a novel estrogen-regulated gene shown to play a pivotal role in hormone-stimulated breast cancer growth.

estrogen-regulated gene

breast cancer


Input: We previously investigated the DCK gene in multiple GEM resistant cancer cell lines and identified frequent inactivating mutations.

GEM

resistant cancer


Input: To investigate the role of HOXD9 in gliomas, we silenced its expression in the glioma cell line U87 using HOXD9-specific siRNA, and observed decreased cell proliferation, cell cycle arrest, and induction of apoptosis.

glioma


Input: This is the first patient who is reported to have iDEND syndrome due to KCNJ11 V59M mutation in China.

DEND

DEND


Input: Only two primary FLs and two diffuse large BCL showed bcl6 somatic mutation.

somatic mutation


Input: Our findings suggest that genetic variability in the leptin receptor and neuropeptide Y genes is implicated in body weight regulation, the LEPR Gln223Arg variant being associated with a BMI increase in this Caucasian population, especially in non-smokers, while the NPY Leu7Pro polymorphism was associated with BMI reduction in premenopausal women.

LEPR

body weight


Input: We showed that: (1) the hybrid called HGF-X7, which contained 1502 base pairs of intron 4, could drive a higher level of HGF expression than other hybrid constructs and cDNAs of each isoform alone; (2) the pCK vector was most efficient for the gene expression of HGF-X7; (3) coexpression of both isoforms of HGF could more efficiently induce the migration of human umbilical vein endothelial cell (HUVEC) and of the mouse myoblast cell line C₂C₁₂ myoblasts than a single isoform of HGF and human vascular endothelial growth factor (VEGF) ₁₆₅ at a given concentration; (4) intramuscular administration of pCK-HGF-X7 resulted in transient and localized HGF expression in the injected muscle without an increase in the HGF protein levels in other tissues including serum; and (5) intramuscular injection of pCK-HGF-X7 could more efficiently increase the number of angiographically recognizable collateral vessels, as well as improve an intra-arterial Doppler wire-measured blood flow in the rabbit model of hindlimb ischemia when compared with the identical vector encoding VEGF₁₆₅ gene.

HGF

ischemia


Input: Moreover, secretion of VEGF and MMP-2 in normoxic and hypoxic BxPC-3 and PanC-1 cells was significantly suppressed by BITC.

VEGF

hypoxic


Input: Na (+)/monocarboxylate transport (SMCT) protein expression correlates with survival in colon cancer: molecular characterization of SMCT.

SMCT

colon cancer

SMCT

colon cancer


Input: The JAK2-V617F mutation occurs in about 50% of patients with myelofibrosis and might be a reliable marker to monitor residual disease after allogeneic stem cell transplantation.

residual disease


Input: The MutY homolog (MUTYH, MYH) is one of the key proteins in the BER pathway, but the role of MYH in the tumorigenesis of CCA is largely unknown.

MYH

tumorigenesis


Input: Identification of SP5 as a downstream gene of the beta-catenin/Tcf pathway and its enhanced expression in human colon cancer.

colon cancer


Input: Blocking DR6 function represents a new approach for the treatment of neurodegenerative disorders involving motor neuron death and axon degeneration, such as ALS.

ALS

ALS


Input: To determine whether PRDX4 was involved in other translocations, leukemia cells from 15 patients with Xp22 abnormalities were screened for involvement of the gene using fluorescence in situ hybridization (FISH).

FISH

leukemia


Input: Of all these strains, Rdh8 (-/-) Abca4 (-/-) mice with a mixed rod-cone population showed the most severe retinal degeneration under regular cyclic light conditions.

retinal degeneration


Input: Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

occipital lobe epilepsy


Input: Here we have used HeLa carcinoma cells as a model system for investigating the role of tissue transglutaminase (TGase), a protein that has been linked to oncogenesis, in EGF-stimulated cancer cell migration and invasion.

TGase

carcinoma


Input: Reverse transcriptase polymerase chain reaction (rtPCR) assays show abundant non-transactivating p63 RNA, and little to no transactivating p63 RNA, in human basal cell carcinoma as well as in normal skin adjacent to the tumors.

basal cell carcinoma


Input: In other patients, congenital neutropenia is not an isolated finding but is associated with other abnormalities, in particular, lymphoid immunodeficiency and pigmentation defects such as Chédiak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2, or deficiency of the endosomal adaptor p14.

immunodeficiency


Input: Previously, we have reported that pigment epithelium-derived factor (PEDF) ameliorates albuminuria and inhibits matrix protein deposition in the kidney of streptozotocin (STZ)-induced diabetic rats, suggesting a renoprotective effect of PEDF in early stages of diabetic nephropathy.

STZ

albuminuria


Input: Here we demonstrate that subretinal delivery of an adenovirus vector expressing a transgene for a soluble non-membrane binding form of human CD59 can attenuate the formation of laser-induced choroidal neovascularization and murine MAC formation in mice even when the region of vector delivery is distal to the site of laser induced CNV.

choroidal neovascularization


Input: We report for the first time an association between the STAT6 G2964A 3'-UTR polymorphism and endometriosis in South Indian women.

UTR

endometriosis


Input: Nonenhancing BRGs (NBRG) exhibited minimal MRI enhancement but had FLAIR-bright expansion, a newer criterion for glioblastoma recurrence since the advent of antiangiogenic therapy, and expressed integrin α5, laminin, fibronectin1, and PDGFRβ.

MRI

glioblastoma


Input: Variants in ASB10 were found to be significantly associated with sporadic POAG in the Pakistani population.

sporadic


Input: Previous work has established the presence of an unbalanced chromosome abnormality [+ der (1), t (1; 7) (p11; p11)] in some therapy-associated myelodysplastic disorders.

chromosome abnormality


Input: Tachycardia was abated (84 beats/min), weight gain was 3 kg in 1 yr, and SHBG was 102 nmol/liter.

SHBG

weight gain


Input: All studies utilized an animal model such as AQP4-knockout mice, H-Tx rats, and kaolin and L-α-lysophosphatidylcholine (LPC) stearoyl injection models of hydrocephalus.

LPC

hydrocephalus


Input: To evaluate the effect of PDE4A on growth, a brain-specific isoform, PDE4A1 was overexpressed in xenografts of Daoy medulloblastoma and U87 glioblastoma cells.

medulloblastoma


Input: In particular, the risk for pheochromocytoma and hyperparathyroidism (HPT) in MEN 2A patients is clearly associated with the presence of the RET mutation at a specific position, i. e.

HPT

pheochromocytoma


Input: The results indicate that catalase elevation in the heart prevents doxorubicin chronic cardiomyopathy.

catalase

cardiomyopathy

catalase

cardiomyopathy


Input: Altered CRBP1 expression and hypermethylation are common in prostate carcinoma, although CRBP1 hypermethylation is not an early event in tumorigenesis.

tumorigenesis


Input: Moreover, in tumor xenograft mouse models, up-regulation of VDR was seen in tumors that had the greatest regression following treatment that combined SPARC with chemotherapy.

SPARC

regression


Input: GABBR2 is a genetic factor that determines RTT-or EE-like phenotype expression depending on the variant positions.

RTT

RTT