Input: Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF.

surfactant protein C

IPF

surfactant protein C

IPF


Input: We found that KGF increases pigment production in both pigmented epidermal equivalents and human skin explants.

KGF

pigment


Input: Memory decline (100%), aphasia (94%), apraxia (99%), agnosia (94%) and motor dysfunction (90%) appeared in practically all cases with mild (GDS-3), moderate (GDS 3-4) and severe (GDS 6-7) dementia.

GDS

mild


Input: We hypothesized that one or more variants in the IkappaBalpha gene (NFKBIA) or surrounding untranslated regions would be associated with insulin sensitivity (S (I)) in Hispanic-American families.

NFKBIA

insulin sensitivity


Input: Cardiac/SMC-specific deletion of YAP directed by SM22α-Cre resulted in perinatal lethality in mice because of profound cardiac defects including hypoplastic myocardium, membranous ventricular septal defect, and double outlet right ventricle.

YAP

double outlet right ventricle


Input: These findings suggest that mutations in C16orf57 unify a distinct set of families which clinically can be categorized as DC, PN or RTS.

DC

DC


Input: Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.

Enamel-Renal-Gingival syndrome

Enamel-Renal-Gingival syndrome


Input: TNBS-induced colitis was associated with enhanced COX-2 expression in the gut and increased circulating concentrations of PGE2 metabolite (PGEM).

colitis

colitis


Input: We present a CD5-positive, CCND1-negative B-cell lymphoma with a novel translocation involving CCND2 and the immunoglobulin lambda (IGL) gene.

translocation


Input: Global ischemia induces a marked decrease in MOR-1 mRNA and protein expression that is specific to the selectively vulnerable area CA1, as assessed by quantitative real-time RT-PCR, Western blotting, and ChIP.

ischemia


Input: Based on this review, these mutations will be classified into two main groups of phenotypes: Fuhrmann and AARRS phenotypes in which there is partial and complete loss of WNT7A functions, respectively.

AARRS

AARRS


Input: Genotype-phenotype correlations in MYCN-related Feingold syndrome.

MYCN

Feingold syndrome

MYCN

Feingold syndrome


Input: Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism.

insulin receptor

leprechaunism

insulin receptor

leprechaunism


Input: We report here that ginkgo flavonols quercetin and kaempferol stimulates depression-related signaling pathways involving brain-derived neurotrophic factor BDNF/phosphorylation of cyclic AMP response element binding protein CREB/postsynaptic density proteins PSD95, and reduces amyloid-beta peptide (Abeta) in neurons isolated from double transgenic AD mouse (TgAPPswe/PS1e9).

AMP

depression

AMP

depression


Input: We report 4 cases of lymphomas/leukemias with the unusual CD56/CD4 phenotype.

leukemias


Input: We also observed interaction between body mass index and IGF1 19 CA repeat (p = 0. 06) and between weight gain and the-202 C > A IGFBP3 polymorphism (p = 0. 05) in NHW post-menopausal women not recently exposed to hormones.

weight gain


Input: Gene conversion may be a frequent cause of 21-hydroxylase deficiency alleles due to the presence of six chi-like sequences (GCTGGGG) in the CYP21 genes and the close proximity of the CYP21A pseudogene, which has several potentially deleterious mutations.

21-hydroxylase deficiency

21-hydroxylase deficiency


Input: Our results demonstrate that sustained overexpression of SRF, in the absence of other stimuli, is sufficient to induce cardiac change and suggest that SRF is likely to be one of the downstream effectors of the signaling pathways involved in mediating cardiac hypertrophy.

SRF

cardiac hypertrophy


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

bipolar disorder

bipolar disorder


Input: In conclusion, this study found that ABCC2 and ABCG2 expression levels were altered already in mild/moderate dysplasia in carcinogenesis suggesting that these ABC transporters are involved in the early steps of carcinogenesis as previously reported for ABCB1.

mild


Input: Our data demonstrated that lower MSH2 expression might contribute to a higher clinic aggressiveness of HNSCC by promoting an unfavorable outcome.

aggressiveness


Input: Our objectives were to analyze the presence of the hypermethylation of EPB41L3, RASSF2 and TSP-1 genes in 132 diffuse gliomas (astrocytic and oligodendroglial tumors) and in 10 cases of normal brain, and to establish their association with the patients' clinicopathological characteristics.

gliomas


Input: In this study, we evaluated the pattern and level of Gankyrin protein expression using immunohistochemistry in various liver tissues, including normal liver, chronic hepatitis, cirrhosis, adenomatous hyperplasia (AH), and HCC tissues, to analyze its clinicopathological significance.

HCC

chronic hepatitis


Input: In a multiple regression model for the total population, an increase in CIMT was explained by body mass index, systolic and diastolic blood pressure, and the TNF-308A and CCL2-2518A alleles (r (2) = 0. 321; p = 0. 022).

body mass index


Input: Previously, the cryptic splice variant rs4149601 (G/A) A allele of NEDD4L, generating isoform I, was estimated to decrease blood pressure by downregulating Na (+) reabsorption.

blood pressure


Input: Tissue microarray slides containing totally 80 cores with 19 tissues of HCC, 1 tissue of hepatocholangiocarcinoma, 10 tissues of liver cirrhosis and 10 normal liver tissues in duplicates were analyzed for expression of RPS27A and YB-1 by immunohistochemistry.

hepatocholangiocarcinoma


Input: The IDUA mutation, c. 712T > A (p. L238Q) was previously noted as a mild mutation.

IDUA

mild


Input: In ulcerative colitis, tumor progression is similar to that in sporadic colon cancer, and other oncogenes and tumor suppressor genes are likely to be mutated before the p53 gene.

p53 gene

sporadic


Input: These findings suggest that NOLC1 plays a role in the regulation of tumorigenesis of NPC and demonstrate that both NOLC1 and tumor protein 53 work together synergistically to activate the MDM2 promoter in NPC cells.

tumorigenesis


Input: In this study, we performed immunophenotypic analysis of peripheral blood NK cells with regard to CD56, CD16, Nkp46, and CD25 markers, as well as IL-10 levels quantification in the sera samples of asymptomatic, H. pylori (Hp)-infected or uninfected individuals, and combined these results with our previous findings on lymphocyte cytotoxic activity.

asymptomatic


Input: In view of this putative link, the authors investigated in a series of 63 NSCLCs: 1) the allelic imbalance (AIm) at the D13S171 (BRCA2) locus, 2) the possible relation with tumor kinetics (proliferation [PI] and apoptotic indices [AI]) and chromosomal instability (aneuploidy) of the carcinomas, and 3) the mutual impact of D13S171 AIm and p53 altered status on the above-mentioned parameters.

chromosomal instability


Input: We analysed (n = 386, controls and n = 384, MetS subjects) for MCP-1 gene polymorphism using PCR-RFLP, its serum level using ELISA, anthropometric (body mass index, waist and hip circumferences, waist-hip ratio and blood pressure) and biochemical (serum lipids, plasma glucose and insulin levels) variables in a genetic association study.

body mass index


Input: LASV GP binding to DG further resulted in dissociation of the adapter protein utrophin from virus-bound DG.

utrophin

dissociation


Input: The percentages of MCM5-positive cells were 15. 7% in normal skin, 21. 8% in psoriasis, 75. 9% in BP, 83. 8% in BD, 63. 5% in well-differentiated SCC, 77. 5% in moderately differentiated SCC, 79. 8% in poorly differentiated SCC, and 21. 2% in BCC in average.

psoriasis


Input: Moreover, as the severity of ischemia worsens, a transcriptional and/or translational blockade of the hsp70 gene occurs in the same order so that moderate degrees of ischemia induce HSP70 in CA3 neurons and dentate granule neurons but not necrotic CA1 neurons, and severe ischemia induces HSP70 in capillary endothelial cells of hippocampus but not in any infarcted neurons or glia throughout the hippocampus.

ischemia


Input: We have previously reported an association between variants in the transforming growth factor-alfa gene (TGFA) and human tooth agenesis.

TGFA

tooth agenesis


Input: This is the first report demonstrating mutations of MMR genes during the neoplastic transformation of human breast epithelial cells.

MMR

neoplastic transformation


Input: We expect to detect the mutation in other LS patients from the region, and recommend cost-effective screening for this mutation by restriction fragment length polymorphism-polymerase chain reaction or DNA sequencing of MLH1 Exon5 prior to full genetic testing in all LS suspects of Macedonian ancestry.

LS

LS


Input: The upstream signals responsible for activation of RhoA/Rho kinase signaling in hypertensive pulmonary arteries and whether or not they differ in different forms of pulmonary hypertension are unclear.

Rho kinase

pulmonary hypertension


Input: Our findings demonstrate that P-cadherin is a direct PAX3-FOXO1A transcriptional target involved in ARMS aggressiveness.

aggressiveness


Input: Genetic alterations of the tumor suppressor gene WWOX in esophageal squamous cell carcinoma.

WWOX

esophageal squamous cell carcinoma

WWOX

esophageal squamous cell carcinoma


Input: We previously showed that RAE1 depletion caused aneuploidy, which enhanced tumorigenesis.

tumorigenesis


Input: We herein report that AQP4 knockout disrupted 4-week fluoxetine (10 mg/kg per day i. p) treatment-induced enhancement of adult mouse hippocampal neurogenesis as well as behavioral improvement under both basal condition and CMS-evoked depressive state.

depressive state

depressive state


Input: On the other hand the frequency of IL-1alpha TT-889 genotype (p = 0. 028), IL-1R C pst1 1970 allele (p = 0. 0001) and CC genotype (p = 0. 00006), TNFalpha G-308 allele (p = 0. 0002) and GG genotype (p = 0. 000001) decreased significantly in the patients versus normal subjects. These results suggest that polymorphic variations of these pro-inflammatory cytokines may play an important role in susceptibility of Iranian multiple sclerosis patients.

multiple sclerosis


Input: Unlike melanoma, clear cell sarcoma harbors either a t (12; 22) (q13; q12) recurrent translocation, resulting in an EWSR1/ATF1 chimeric gene, or less commonly a t (2; 22) (q34; q12) translocation fusing EWSR1 and CREB1.

translocation


Input: The current data supports our hypothesis that a positive-feedback loop of sonic hedgehog signaling induced INSM1 through N-myc and INSM1 enhanced N-myc stability contributing to the transformation of human neuroblastoma.

sonic hedgehog

neuroblastoma


Input: After ovariectomy, the bone mineral density and oestradiol level decreased significantly in the OVX group compared with the NC group (p = 0. 001), whereas the OPGL expression level increased.

OPGL

bone mineral density


Input: The present study confirms that the rs4402960 of IGF2BP2 gene is a strong candidate for Type 2 diabetes susceptibility and overweight/obesity risk in the Tunisian population.

IGF2BP2 gene

overweight


Input: Immunoblotting was used to determine the expression level of schwannomin/merlin in 14 human sporadic meningiomas.

schwannomin

sporadic


Input: The molecular pathology of both sporadic and TT-induced HA is characterized by a high rate of K-ras-2 mutations characteristic of oxidative damage (ie, G: C > A: T and G: C > T: A mutations) resulting in two mutated population sets: codon 12 GGT > GAT and GGT > TGT (glycine to aspartic acid and cysteine).

TGT

sporadic


Input: The present study integrated clinical data regarding the occurrence of HVOD, graft versus host disease (GVHD), BU pharmacokinetics and GSTA1, GSTP1, GSTM1, and GSTT1 genotypes of 18 children who received BU in their pre-HSCT conditioning regimen.

graft versus host disease


Input: Therefore, we propose that dysfunctional MMR promotes UVB-induced tumorigenesis through reduced apoptotic elimination of damaged epidermal cells.

MMR

tumorigenesis


Input: The objective of this study was to investigate the role of alpha v-integrin subunit (ITGAV, CD51) in invasion and metastasis of the laryngeal and hypopharyngeal squamous cell carcinomas and to evaluate whether an antisense oligonucleotide sequence (ASONs) targeting ITGAV gene can result in proliferative inhibition and induce to apoptosis of laryngeal carcinoma cell lines (Hep-2).

ITGAV gene

laryngeal carcinoma


Input: Embryonic fibroblasts from RECQ1-deficient mice displayed aneuploidy, chromosomal instability, and increased load of DNA damage.

chromosomal instability


Input: Here we use the Chlamydia muridarum (Cm) lung infection model in IL-10 knockout (KO) mice to test the relationship between IL-10 production and ICOS-L expression by DCs.

ICOS-L

lung infection


Input: Tpl-2/Cot proto-oncogene encodes a serine threonine kinase and was initially cloned as a provirus insertion site in MoMuLV-induced T cell lymphomas in rats.

lymphomas


Input: mnd2 mice die prematurely as a result of neurodegeneration 30-40 days after birth due to loss of the enzymatic activity of the mitochondrial quality control protease HtrA2/Omi.

neurodegeneration


Input: However, statistical difference was observed in the body weight and appetite subscales among genotypes of ARNTL rs2278749 and in the body weight subscale among genotypes of NPAS2 rs2305160.

ARNTL

body weight


Input: Therefore, research effort has focused on target-specific agents, such as sorafenib, which blocks both the RAF/MEK/ERK signalling pathways and receptors involved in neovascularization and tumor progression, including VEGFR-2 and c-Kit.

ERK

neovascularization


Input: Combination therapy with GM-CSF and IL-12 represents a promising immunotherapy strategy for treating orthotopic, widespread liver tumors.

GM-CSF

liver tumors

GM-CSF

liver tumors


Input: We analyzed 4 cases of cycD2 (+) mantle cell lymphoma with a translocation involving the CCND2 locus, and its differential diagnosis from 35 mature B-cell non-Hodgkin' s lymphomas based on immunohistochemistry, quantitative RT-PCR and FISH analysis.

translocation


Input: SOD1 (G93A) induces dissociation of MST1 from a redox protein thioredoxin-1 and promotes MST1 activation in spinal cord neurons in a reactive oxygen species-dependent manner.

dissociation


Input: HIF-1α positively regulates the induction of NFAT5 and Hsp70 by placental hypoxia and NFAT5 stimulates transcription of Hsp70 in response to placental hypoxia in models of human placental hypoxia in vitro.

hypoxia


Input: Autotaxin expression in metastatic deposits and primary carcinomas was four-to tenfold higher than in benign neoplasms or normal thyroid tissue.

Autotaxin

benign neoplasms


Input: In 2011 immunomodulation with ipilimumab, a monoclonal antibody targeting the ligand CTLA-4, has been approved for patients with advanced melanoma in first-and second-line treatment by the Food and Drug Administration (FDA) and in second-line treatment by the European Medicines Agency (EMA).

melanoma

melanoma


Input: CONTEXT: A positive correlation has been reported between the offspring' s birth weight and serum placental GH (coded by GH2) and placental lactogen (coded by CSH1, CSH2) levels in pregnant women.

birth weight


Input: Prostaglandin E2 reinforces the activation of Ras signal pathway in lung adenocarcinoma cells via EP3.

lung adenocarcinoma


Input: The aim of this study was to investigate the effect of G870A polymorphism of the CCND1 gene on gastric precancerous condition, on histological chronic gastritis, and on the risk of peptic ulcer diseases.

CCND1 gene

peptic ulcer


Input: Our data suggest that the status of amphiregulin and TGF-alpha in serum can be an important predictor of the resistance to gefitinib among patients with advanced NSCLC.

TGF-alpha

NSCLC

TGF-alpha

NSCLC


Input: Tucaresol did not affect HIV viraemia whereas increases in CD4 + percentages, mainly supported by naive CD4 + cells, were observed.

viraemia


Input: Higher erythrocyte sodium-lithium countertransport activity (SLC) is implicated in the development of diabetic nephropathy.

SLC

diabetic nephropathy


Input: We have provided evidence recently for a defect in DNA topoisomerase II in ataxia--telangiectasia (A-T) lymphoblastoid cells.

DNA topoisomerase II

telangiectasia


Input: A multitude of molecular pathways well-described in carcinogenesis are regulated in part by TFE3 or TFEB proteins, including activation of TGFβ and ETS transcription factors, E-cadherin expression, CD40L-dependent lymphocyte activation, mTORC1 signalling, insulin-dependent metabolism regulation, folliculin signalling, and retinoblastoma-dependent cell cycle arrest.

folliculin

retinoblastoma


Input: Collectively, these investigations demonstrate that RHS is also caused by mutations in p63 and that the clinical similarities to AEC syndrome are paralleled by the nature of the inherent mutation.

RHS

RHS


Input: By flow cytometry and molecular analyses, we have demonstrated that Th1 cells isolated from the bronchoalveolar lavage (BAL) of patients with sarcoidosis and T cell alveolitis are equipped with CCR6.

sarcoidosis


Input: OBFC2A/RARA: a novel fusion gene in variant acute promyelocytic leukemia.

acute promyelocytic leukemia

acute promyelocytic leukemia


Input: Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1).

Achondrogenesis type II

Achondrogenesis type II


Input: RESULTS: In the LQTS patient with torsades de pointes and cardiopulmonary arrest, we identified the novel T473P mutation in the transmembrane nonpore region of KCNH2.

cardiopulmonary arrest


Input: In this study we used human lung fibroblasts derived from healthy and IPF lungs to examine Simvastatin effects on CTGF gene and protein expression, analyzed by RT-PCR and ELISA, respectively.

CTGF

IPF

CTGF

IPF


Input: Null mutations in SPG20 cause Troyer syndrome, a specific clinical entity with developmental and degenerative features.

Troyer syndrome

Troyer syndrome


Input: Correlation of factor VIIa values with factor VII gene polymorphism, fasting and postprandial triglyceride levels, and subclinical carotid atherosclerosis.

factor VII

carotid atherosclerosis


Input: Taken together, the consistently significant but flipped association between single nucleotide polymorphism rs760317 and prostate cancer in three independent samples suggests that rs760317 may be in linkage disequilibrium with one or more prostate cancer susceptibility variants in or near FHIT.

FHIT

prostate cancer susceptibility


Input: We analyzed minK, e-NOS and ESR1 gene polymorphisms in 40 patients with atrial fibrillation (AF) without major structural heart disease compared to 35 healthy controls.

ESR1 gene

heart disease


Input: The NET1 gene, but not opioid receptors, is expressed in breast adenocarcinoma cells and may facilitate their migration.

NET1 gene

breast adenocarcinoma


Input: Peripherally administered IL-1 alpha interferes with scopolamine-induced amnesia in mice.

IL-1 alpha

amnesia

IL-1 alpha

amnesia


Input: Employing RT-PCR, we have amplified a novel NADPH oxidase isoform Nox1 from human choriocarcinoma BeWo cells.

choriocarcinoma


Input: Furthermore, we demonstrate a 38. 6% differential gene expression overlap with endometrial samples in the midsecretory phase from women with endometriosis, concomitant with similar dysregulation in human disease candidate genes Fos, Nodal, Suclg2, and Kras, among others.

endometriosis

endometriosis


Input: In this study, we used conformation-sensitive gel electrophoresis to screen all 28 translated exons of ATP2C1 in 24 Hailey-Hailey disease families and three sporadic cases with the disorder.

Hailey-Hailey disease

Hailey-Hailey disease


Input: Genetic study of a family with two members with Weber Christian disease (panniculitis) and alpha 1 antitrypsin deficiency.

alpha 1 antitrypsin

Weber Christian disease

alpha 1 antitrypsin

Weber Christian disease


Input: Exposure to denatured collagen IV significantly increased the migration and adhesion of K562 cells, which also resulted in increased activation of DDR1 and AKT.

AKT

adhesion


Input: These findings bring insight to the roles of NDRG2 in ischemic-hypoxic injury and provide potential targets for future clinical therapies on stroke.

hypoxic


Input: Most primary Ewing sarcomas of the ileum show the common EWSR1-FLI1 translocation, but EWSR1-FEV could be specific for tumours arising in the ileum and showing better prognosis.

translocation


Input: None of the CYP11a (tttta) (n) polymorphic alleles was associated with hirsutism.

hirsutism


Input: After resolution, we noted increased fibrosis and the accumulation of a variety of T cells subsets (CD4-IFNγ, CD4-IL-17, CD4-IL-10 & CD8-TNFα) in the oviducts.

fibrosis


Input: The identification of a novel heterozygous COL2A1 missense mutation (p. Gly753Asp) in the proband confirms our hypothesis and suggests that DSC may be another type II collagen disorder.

DSC

DSC


Input: As impaired NMDA receptor activity may be the result of a primary defect in the NMDA receptors themselves, or secondary to dysfunction in the protein complexes that mediate their signaling, we measured expression of both NMDA subunits and associated postsynaptic density (PSD) proteins (PSD95, neurofilament-light (NF-L), and SAP102) transcripts in the dorsolateral prefrontal cortex in subjects with schizophrenia, bipolar disorder, major depression, and a comparison group using tissue from the Stanley Foundation Neuropathology Consortium.

major depression

major depression


Input: The induction of RAR alpha by GM-CSF was also detected in other myeloid leukemia cell lines (THP-1 and KG-1) that showed a synergistic effect similar to that seen in ML-1 cells in response to ATRA + GM-CSF.

myeloid leukemia


Input: CXCL12 is an estrogen-regulated gene, and notably, estrogen is a major risk factor for endometrial cancer (EC) development.

estrogen-regulated gene

endometrial cancer


Input: To examine a possible role of the genetic susceptibility to dioxins in the development of micropenis (MP), we studied the Arg554Lys polymorphism of the gene for aryl hydrocarbon receptor (AHR) and the Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor (AHRR), in 73 boys with MP (34 boys with mild MP from-2. 1 to-2. 5 SD and 39 boys with severe MP below-2. 5 SD) and 80 control males (50 boys and 30 fertile adult males).

AHRR

mild


Input: Information about lifetime tobacco and alcohol use was ascertained through questionnaires, and genotypes for GSTM1, GSTT1, and GSTP1 were determined from constitutional DNA.

alcohol use


Input: We conclude that mutations of the FSH receptor or the FSH receptor genotype do not play a pathogenic role in male idiopathic infertility.

FSH receptor

infertility


Input: Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas.

BRCA2 gene

sporadic


Input: Alveolar type II cell (a main progenitor cell of lung adenocarcinoma) expressed only EP4, while human lung adenocarcinoma cells (A549) expressed EP3 as well as EP4.

lung adenocarcinoma


Input: HG upregulated TLR2 and TLR4 mRNA and protein and increased both MyD88 and non-MyD88 pathways, NF-κB p65, inflammatory biomediators, and monocyte adhesion to HMAECs.

NF-κB

adhesion


Input: This study shows that DYT9 and DYT18 are allelic disorders and enlarges the spectrum of GLUT1 phenotypes, now also including slowly progressive spastic paraparesis combined with PED.


Input: The dose-response curve for cocaine-induced convulsions was significantly shifted to the right in NET-KO mice, indicating higher seizure thresholds.

NET

seizure


Input: A major consortium study have recently linked BD to hundreds of variations with stronger associations in the MHC region, such as the rs3130297 SNP, located in the NOTCH4 gene, with an additional overlapping association with schizophrenia.

BD

BD


Input: PINK1 was absent in cortical Lewy bodies, in neurofibrillary tangles in Alzheimer' s disease, progressive supranuclear palsy and corticobasal degeneration, and in the glial and neuronal alpha-synuclein positive inclusions in multiple system atrophy.

neurofibrillary tangles


Input: Thus a GCDFP-15 positive/TTF-1 negative phenotype may not be indicative of metastatic breast carcinoma in every case.

metastatic breast carcinoma


Input: Pressure also promoted phosphorylation of AKT1 but not AKT2, and expression of a nonphosphorylatable double point mutant prevented pressure-stimulated adhesion.

adhesion


Input: Cone dystrophy 3 (COD3) is a severe dominantly inherited retinal degeneration caused by missense mutations in GUCA1A, the gene encoding Guanylate Cyclase Activating Protein 1 (GCAP1).

retinal degeneration


Input: Intratracheal instillation of neutralizing anti-interleukin 1 beta antibodies upon induction of lung injury resulted in a dose-dependent reduction in lung injury as assessed by measurements of pulmonary hemorrhage and vascular permeability.

interleukin 1 beta

pulmonary hemorrhage


Input: In pediatric T-ALL, we have identified 2 RNA processing genes, that is, HNRNPH1/5q35 and DDX3X/Xp11. 3 as new MLLT10 fusion partners.

T-ALL

T-ALL


Input: We investigated the clinical relevance of TAZ expression and its functional role in NSCLC tumorigenesis.

TAZ

tumorigenesis


Input: However, the ability to use both CCR3 and CCR5 (R3R5) was more pronounced in CSF isolates and correlated with high CSF viral load and low CD4 T-cell count.

viral load


Input: The results suggest that HDAC3 and HDAC4 genes might play a role in the pathophysiology of schizophrenia in a Korean population.

schizophrenia

schizophrenia


Input: We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and " Jordan' s anomaly " of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan' s anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance).

partial lipodystrophy


Input: We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ERCC4 rs1799801, XPC rs2227998, rs2228001, rs2228000, OGG1 rs1052133 and XRCC1 rs25487 and rs25486) and breast cancer risk, examining modification by smoking and alcohol consumption, using data from the Western New York Exposures and Breast Cancer Study.

smoking


Input: Spontaneous skin ulceration and defective T cell function in CD18 null mice.

skin ulceration

skin ulceration


Input: Monitoring of TNF-α-induced expression of the adhesion molecules VCAM-1, ICAM-1 and E-selectin by flow cytometry was used to confirm NF-κB inhibition in endothelial cells, and thioglycollate-induced peritonitis in mice to confirm effects in vivo.

NF-κB

adhesion


Input: Thus, using a loss-of-function RNA interference genomic screen, we identified the aberrant expression of hepatocyte growth factor (HGF) as a crucial element in AML pathogenesis.

hepatocyte growth factor

AML

hepatocyte growth factor

AML


Input: Thus, the RP105/MD-1 complex is a major mediator of adipose tissue inflammation independent of TLR4 signaling and may represent a novel therapeutic target for obesity-associated metabolic disorders.

inflammation


Input: Our results support CSF2RB as a risk factor common to both schizophrenia and major depression in the Chinese Han population.

schizophrenia

schizophrenia


Input: The combined treatment of Ad/hTERT-CYLD and a conditionally replicating adenovirus carrying TRAIL gene (ZD55-TRAIL) induced rapid and potent apoptosis in HCC cells, characterized by activation of caspase-3, caspase-8, PARP and the reduction of X-linked inhibitor of apoptosis protein (XIAP).

HCC

adenovirus


Input: Northern blot analysis revealed that the same level of DNA topoisomerase II mRNA was expressed in ataxia-telangiectasia and control cell lines.

DNA topoisomerase II

telangiectasia


Input: In sensitivity analysis, the study by Bengtsson K was recognized as the main cause of heterogeneity, which was the only one study with the diagnostic standard for EH as systolic blood pressure (SBP) ≥ 160 mmHg or diastolic blood pressure (DBP) ≥ 90 mmHg.

DBP

systolic blood pressure


Input: Our data demonstrate that targeting HSP90 function by 17-AAG may offer a novel therapeutic strategy for ALCL, either as single-agent activity or by combining 17-AAG with conventional or targeted therapeutic schemes.

ALCL

ALCL


Input: Among all candidate substrates, DPP4 displays highest affinity for NPY, an endogenous anxiolytic neurotransmitter that is suggested as a candidate biomarker in post-traumatic stress disorder (PTSD) and depression.

depression

depression


Input: Therefore, we examined the parallel effects of urocortin-and hydralazine-induced hypotension on acute inflammation induced by carrageenin in the rat.

urocortin

inflammation

urocortin

inflammation


Input: The plasma levels of protein C activity (PC: A), protein C antigen (PC: Ag), factor V: C, factor VIII: C, fibrinogen (FIB), and D-dimer (D-D) were measured.

factor VIII

fibrinogen


Input: For the first time, we report that RhoE protein levels increase in gastric cancer cells under hypoxic conditions.

RhoE

gastric cancer


Input: Compared with those of the shunt group, lung tissue H2S production was lowered by 23. 4%, RMT of the pulmonary artery further increased by 39. 5%, pulmonary artery collagen accumulation became obvious, and pulmonary artery CTGF expression elevated (P < 0. 01) in the shunted rats treated with PPG.

PPG

shunt


Input: Here, we identify loss-of-function mutations in CCDC114 causing PCD with laterality malformations involving complex heart defects.

PCD

PCD


Input: To unmask phenotypes, we treated Mtg16 (-/-) mice with dextran sodium sulphate (DSS) or infected them with Citrobacter rodentium and the colons were examined for ulceration and for changes in proliferation, apoptosis and inflammation.

inflammation


Input: The regulation of BDNF, trkB, and NGF mRNA was studied by in situ hybridization at 1, 3, 6, and 24 h after induction of limbic motor status epilepticus.

BDNF

status epilepticus

BDNF

status epilepticus


Input: Mutations in the human p53 tumor suppressor gene are prominently linked to sporadic cancers in breast, lung and other tissues.

p53 tumor suppressor gene

sporadic


Input: These disorders include deficiencies of anticoagulant proteins such as protein C, protein S, and antithrombin III, abnormalities of factor V and prothrombin resulting from genetic mutations, and hyperhomocysteinemia.

antithrombin III

hyperhomocysteinemia


Input: Additionally, correlations between SHBG levels and SNP genotype, body mass index, non-SHBG-bound testosterone, and insulin resistance estimated by the homeostasis model were determined.

SHBG

body mass index


Input: Our data corroborate a greater detrimental impact of sleep deprivation in PER3 (5/5) compared to PER3 (4/4) carriers.

sleep deprivation


Input: BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.

autosomal dominant vitreoretinochoroidopathy

autosomal dominant vitreoretinochoroidopathy


Input: UCP2 and UCP3 could therefore have an important role in body weight regulation and susceptibility to diabetes.

body weight


Input: Processed and enzymatically active LOX, in turn, stimulates Twist transcription, which mediates the MSC-triggered epithelial-to-mesenchymal transition (EMT) of carcinoma cells.

MSC

carcinoma


Input: The current review focuses on the diagnosis and treatment of both molecularly defined and clinicopathologically assigned categories of atypical MPD: chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, chronic neutrophilic leukemia, chronic basophilic leukemia, chronic eosinophilic leukemia, idiopathic eosinophilia including hypereosinophilic syndrome, systemic mastocytosis, unclassified MPD, and eosinophilic/mast cell disorders associated with mutations of platelet-derived growth factor receptors alpha (PDGFRA) and beta (PDGFRB), FGFR1, and KIT.

neutrophilic leukemia, chronic


Input: Apolipoprotein B (apoB) is the sole protein component of low-density lipoprotein (LDL) and is thought to play an important role in atherogenesis.

Apolipoprotein B

atherogenesis


Input: It is suggested that BGP is a novel biomarker for carcinogenesis in the intestinal-type gastric carcinoma and in both of the pathways of ACS and the' de novo' colorectal carcinoma.

BGP

carcinogenesis


Input: All cells expressed CCR2 mRNA and protein, but in PCa, more aggressive cancer cells such as C4-2B, DU145, and PC3 expressed a higher amount of CCR2 compared with the less aggressive cancer cells such as LNCaP or non-neoplastic PrEC and RWPE-1 cells.

non-neoplastic


Input: The most significant pathways involved neuronal function (axonal guidance, neuronal systems, and L1 cell adhesion molecule interaction) and the immune system (antigen processing, cell adhesion molecules relevant to T cells, and translocation to immunological synapse).

L1 cell adhesion molecule

translocation


Input: In patients with Child A-C liver cirrhosis, however, RBP4 was not correlated with glucose metabolism or other adipokines, such as adiponectin or resistin, but closely linked to the hepatic biosynthetic capacity, fibrotic changes in liver histology, or clinical complications such as portal hypertension.

portal hypertension


Input: Hepatic OSTalpha and OSTbeta mRNA increased 3-and 32-fold, respectively, in patients with PBC compared with controls, whereas expression of Ostalpha and Ostbeta also increased in the liver of rats and mice following CBDL.

OSTbeta

PBC

OSTbeta

PBC


Input: The positive rate of CDK4, p27, and E2F-1 was significant between chondrosarcoma and osteochondroma of the jaws (P < 0. 05).

chondrosarcoma


Input: Systolic blood pressure (SPB), diastolic blood pressure (DPB), and mean arterial pressure (MAP) were significantly decreased by exercise therapy in subjects with the ACE-II and ID genotypes but not in DD subjects.

SPB

diastolic blood pressure


Input: The Cyr61 gene exhibited the highest response to FLU in rat fetal testis, and we suggested it a promising candidate gene for epispadias in humans, because its protein product promotes proliferation, migration, and adhesion of endothelial cells and fibroblasts.

Cyr61 gene

adhesion


Input: CNV in the Fcγ receptor region (FCGR) has been suggested to be associated with rheumatic diseases.

FCGR

rheumatic diseases


Input: The CT genotype of rs1172822 in the BRSK1 gene is associated with lower serum anti-Müllerian hormone (AMH) levels and a younger predicted age at menopause in adult survivors of childhood cancer.

AMH

age at menopause


Input: This study explores the putative impact of known HY-presenting HLA alleles on future pregnancy outcome in women with at least three consecutive miscarriages following a birth [secondary recurrent miscarriage (SRM)].

SRM

recurrent miscarriage


Input: The deletions of Rb, ARHI, and FAT, as well as amplification of N-myc, FASL, GITRL, and EGFR, may be the crucial factors for tumorigenesis and the aggressive biological behavior of PPNET.

FAT

tumorigenesis


Input: The mean PI was 9. 32% +/-4. 41% while the mean SPF was 2. 79% +/-2. 43% in 58 meningioma specimens.

SPF

meningioma


Input: To report a unique case of PSIS with a maternally inherited nonsense mutation in the SHH signaling protein CDON.

CDON

PSIS

CDON

PSIS


Input: FLG mutations combined with eczema in the first year of life are associated with a later development of asthma and hay fever, a clear example of the atopic march.

FLG

hay fever


Input: Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas.

meningiomas

meningiomas


Input: EWS and ATF-1 gene fusion induced by t (12; 22) translocation in malignant melanoma of soft parts.

EWS

translocation


Input: The insertion/deletion angiotensin converting enzyme (ACE) gene polymorphism has recently been linked with lower lean body mass in cancer patients with cachexia.

ACE

lean body mass


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

translocation


Input: FLG 2282del4 was significantly associated with hay fever from the age 5 years onwards (OR = 3. 9; 95% CI: 1. 5-10. 5).

FLG

hay fever


Input: TGF-alpha and EGF-R immunoreactive proteins were detected in foci of cellular proliferation and in areas of intraalveolar fibrosis.

EGF

fibrosis


Input: Mechanistically, IL-17A administration suppressed phosphorylation of signal transducer and activator of transcription 3, a central mediator of fibrosis, upregulated anti-inflammatory microglia/macrophage WAP domain protein in an AMP-activated protein kinase-dependent manner and favorably modulated renal oxidative stress and AMP-activated protein kinase activation.

fibrosis


Input: These data establish a novel mechanism of breast tumor initiation involving IMP3 and they provide a rationale for its association with aggressive disease and poor outcome.

tumor initiation


Input: MTM1 mutations in X-linked myotubular myopathy.

X-linked myotubular myopathy

X-linked myotubular myopathy


Input: Compared with CA125, HE4 assay demonstrated an improved ability to discriminate between pelvic mass with malignant and benign disease.

pelvic mass


Input: BRCA1 has a role in maintaining normal nuclear DNA content during cell division and its inactivation may result in DNA aneuploidy and cancer progression.

aneuploidy


Input: Analysis of normal and colon cancer tissues reveals downregulation of PKD1 expression in advanced stages of colon cancer and its co-localization with β-catenin in the colon crypts.

colon cancer


Input: A recent genome-wide study of drug dependence identified an association between cocaine-induced paranoia (CIP) and a single-nucleotide polymorphism (SNP) in the alpha-endomannosidase (MANEA) locus in a family-based sample of European Americans and African Americans.

MANEA

drug dependence


Input: The recurrent t (11; 20) (p15; q11) chromosomal translocation results in generation of the NUP98/TOP1 chimeric gene.

chromosomal translocation


Input: Fluorescence in situ hybridization using a commercially available diagnostic probe was negative for an EWS gene rearrangement; instead, break-apart fluorescence in situ hybridization probes for FUS and FEV were positive for a translocation involving these genes.

EWS gene

translocation


Input: We conducted a case-control study where 132 SLE patients, 505 rheumatoid arthritis (RA) patients, and 546 controls were genotyped for four SNPs in the IAN5 gene.

rheumatoid arthritis


Input: Remarkably, the only two genes that showed decreased expression in both mutants were v-ski sarcoma viral oncogene homolog (Ski), and Zic1, a transcription factor member of the zinc finger family.

sarcoma


Input: Our data establish PRKAG2 mutations as a glycogen storage cardiomyopathy, provide an anatomic explanation for electrophysiological findings, and implicate disruption of the annulus fibrosis by glycogen-engorged myocytes as the cause of preexcitation in Pompe, Danon, and other glycogen storage diseases.

fibrosis


Input: There was a consistent trend to reduction of pre-established intraprostatic RM1 tumors.

tumors


Input: Here we apply the integrative genomics principles to interrogate relationships between structural features and gene expression patterns of disease-linked SNPs, microRNAs and mRNAs of protein-coding genes in association to phenotypes of 15 major human disorders, namely bipolar disease (BD); rheumatoid arthritis (RA); coronary artery disease (CAD); Crohn' s disease (CD); type 1 diabetes (T1D); type 2 diabetes (T2D); hypertension (HT); ankylosing spondylitis (AS); Graves' disease (autoimmune thyroid disease; AITD); multiple sclerosis (MS); breast cancer (BC); prostate cancer (PC); systemic lupus erythematosus (SLE); vitiligo-associated multiple autoimmune disease (VIT); and ulcerative colitis (UC).

VIT

systemic lupus erythematosus


Input: Our findings emphasize that PRRT2 mutations might be responsible of both BFIS and ICCA, but might be causative also for sporadic cases of benign infantile seizures.

sporadic


Input: Tissue microarrays contained primary cancer, normal stomach, intestinal metaplasia, and gastric epithelial dysplasia and were probed with antibodies against nine potential markers that were either identified in a database of genes overexpressed in gastric adenocarcinoma or were already of interest to our laboratory: claudin-4, mitogen-activated protein kinase kinase 4 (MKK4), 14-3-3sigma (stratifin), S100A4, mesothelin, fascin, topoisomerase IIalpha, HER-2/neu, and epithelial growth factor receptor.

mesothelin

epithelial dysplasia


Input: Recent studies have suggested the HoxA10, HoxA11 and HoxD11 homeobox genes as candidate loci for the thrombocytopenia with absent radius (TAR) syndrome.

absent radius


Input: The serotonin transporter gene (SLC6A4, MIM 182138) is a candidate gene in autistic disorder based on neurochemical, neuroendocrine studies and the efficacy of potent serotonin transporter inhibitors in reducing ritualistic behaviors and related aggression.

MIM

autistic disorder


Input: Also, our second hit, ADAM10, targeted by miR-122-5p, is a major determinant of HER2 shedding causing that trastuzumab cannot bind to HER2 receptors.

hit


Input: Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.

Marfan syndrome

Marfan syndrome


Input: Our results show significantly higher (p < 0. 001) expression of CCR9 and CCL25 in serous adenocarcinoma followed by serous papillary cystadenoma, endometrioid adenocarcinoma, mucinous adenocarcinoma, cystadenoma, mucinous boderline adenocarcinoma, clear cell carcinoma, granulosa cell tumor, dysgerminoma, transitional cell carcinoma, Brenner tumor, yolk sac tumor, adenocarcinoma and fibroma cases, compared to non-neoplastic ovarian tissue.

mucinous adenocarcinoma


Input: They include cardiac disease, vascular abnormalities, endothelial damage, infectious diseases, collagen tissue diseases, certain inborn errors of metabolism and anticardiolipin antibody, lupus anticoagulant and deficiencies of protein C, protein S, antithrombin or plasminogen.

protein S

inborn errors of metabolism


Input: Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.

SGCE

Myoclonus-dystonia

SGCE

Myoclonus-dystonia


Input: Expressions of Cks1 and Cks2 at both mRNA and protein levels were significantly higher in HCC than those in the adjacent noncancerous tissues (including chronic hepatitis and cirrhosis) and normal liver tissues.

HCC

chronic hepatitis


Input: We show that GRIM-1 isoforms interact with NAF1 and DKC1, two essential proteins required for box H/ACA sno/sca RNP biogenesis and suppresses box H/ACA RNA levels in mammalian cells by delocalizing NAF1.

sca


Input: Magnesium (Mg) supplementation decreased blood pressure, ameliorated cardiac hypertrophy, protected against the development of Ang II-induced myocardial damage and increased serum ionized Mg2 + concentration (all variables P < 0. 05).

cardiac hypertrophy


Input: The EWS/TEC gene fusion generated by the t (9; 22) chromosomal translocation found in extraskeletal myxoid chondrosarcomas encodes a fusion protein containing the amino-terminal domain of the EWS protein fused to the whole coding sequence of the orphan nuclear receptor TEC.

EWS

chromosomal translocation


Input: In summary, SPP1 promoter methylation is a novel and independent prognostic parameter in GISTs, and might be helpful in estimating the aggressiveness of GISTs from the intermediate-risk category.

aggressiveness


Input: To the best of our knowledge, this represents the first demonstration of a somatic biallelic inactivation of the NF1 gene in neurofibroma, providing further evidence for the importance of NF1 inactivation also in sporadic neurofibromas.

NF1 gene

sporadic


Input: Since taxanes are often used in the treatment of breast cancer, we carried out a mutational analysis of the class I beta-tubulin (GenBank accession AF070600) gene in breast cancer.

class I beta-tubulin

breast cancer


Input: CONCLUSIONS Our results suggest that the BDNF (Met) single-nucleotide polymorphism might contribute to the increased susceptibility to the Stage III-IV endometriosis and endometriosis-related infertility.

BDNF

infertility


Input: Quantification by isoform specific real-time PCR revealed higher expression of AKR1C1 in nine specimens and higher expression of AKR1C3 in four specimens of endometrial cancer.

endometrial cancer

endometrial cancer


Input: The patient was a 7-year-old boy with NS, who was included in the first series reporting the association between Noonan and RAF1, and who later presented with a 2-week history of asymptomatic unilateral tonsillar swelling and ipsilateral cervical lymphadenopathy.

asymptomatic


Input: We demonstrate that K13 upregulates the expression of a number of NF-κB responsive genes involved in cytokine signaling, cell death, adhesion, inflammation and immune response, including two NF-κB subunits involved in the alternate NF-κB pathway, RELB and NFKB2.

RELB

inflammation


Input: These observations indicate that EPA attenuates arterial medial calcification through an effect associated with the suppression of MMP-9 activity and inhibition of macrophage infiltration as well as osteogenic protein expression in warfarin-induced rat models.

calcification

calcification


Input: A statistically significant correlation between TS expression and ¹⁸F-FDG uptake was observed in thoracic neoplasms, in particular primary lung adenocarcinomas, high-grade NE tumors, thymomas and MPMs.

FDG

thoracic neoplasms


Input: More complicated mechanisms may be Involved when brain calcinosis is present but calcium, phosphorus, and parathyroid hormone metabolism abnormalities are absent.

parathyroid hormone

calcinosis


Input: BRCA2 tumors exhibited a significantly higher number of chromosomal aberrations than sporadic tumors.

sporadic


Input: It was concluded that decrease in human Cdx1 and/or Cdx2 expression is associated with colorectal tumorigenesis.

tumorigenesis


Input: However, the molecular mechanism behind the SGEF regulation of prostate cancer development is not known.

SGEF

prostate cancer


Input: In the vessel wall, the loss of Akt1 increases inflammatory mediators and reduces eNOS phosphorylation, suggesting that Akt1 exerts vascular protection against atherogenesis.

atherogenesis


Input: Strikingly, we identified TGFβ2 as a key growth promoter of CD44 (hi) cells that survived chemotherapy but also as a growth inhibitor of cells that survived hypoxia.

hypoxia


Input: Pharmacologic inhibition of MEK1/2 led to decreased thyroid size, restoration of thyroid form and function, and inhibition of tumorigenesis.

tumorigenesis


Input: Homozygosity mapping in a consanguineous family with three affected children with progressive cerebellar ataxia and atrophy revealed a candidate locus on chromosome 1, containing the CABC1/ADCK3 (the chaperone, ABC1 activity of bc1 complex homologue) gene.

atrophy


Input: PDXs from BRCA2 tumours showed increased incidence of IDC-P compared with sporadic PCa (p = 0. 015).

sporadic


Input: PMN were manipulated in the following four ways: (1) inhibition of oxygen-free radicals using manganese superoxide dismutase and catalase (SOD/CAT), (2) antagonism of PMN elastase using secretory leukocyte protease inhibitor (SLPI), (3) neutropenia using PMN antisera, and (4) inhibition of activation and adhesion using interleukin-1 receptor antagonist (IL-1ra) and tumor necrosis factor binding protein (TNFbp).

CAT

adhesion


Input: The study does not bring evidence for a role for RBP4 in the regulation of diet-induced changes in insulin sensitivity.

insulin sensitivity


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: Mutations of p53 and PTCH gene, two candidate tumor suppressor genes for basal cell carcinoma (BCC), were screened in 15 cases of sporadic BCCs that developed in sun-exposed skin region in a Korean population.

sporadic


Input: Unique environmental effects on borderline personality, however, were not completely shared with those for the FFM traits (33% is unique to borderline personality).

FFM

borderline personality


Input: The NTRK1 gene in the q arm of chromosome 1 encodes one of the receptors for the nerve growth factor and is frequently activated as an oncogene in papillary thyroid carcinomas.

papillary thyroid carcinomas

papillary thyroid carcinomas


Input: The patients showed MRI alterations: (1) in the mother, abnormal hyperintense pallida and cortical cerebral/cerebellar atrophy; and (2) in the son, small hyperintense foci in the cerebellum and subtle enlargement of the fourth ventricle.

MRI

enlargement


Input: Homozygosity mapping in nine patients with childhood onset spasticity, dystonia, cognitive dysfunction, and periventricular white matter disease revealed inactivating mutations in the FA2H gene.

FA2H gene

white matter disease


Input: Evaluation of DAZ microdeletions in 34 infertile men.

DAZ

infertile


Input: To improve cytologic diagnostic accuracy for translocation-associated sarcomas, we explored dual-color break-apart (dc) chromogenic in situ hybridization (CISH) on liquid-based cytology (LBC) samples of 2 prototypic sarcomas: synovial sarcoma (SS) and Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET).

LBC

primitive neuroectodermal tumor


Input: Deficiency of GPIb or GPIX results in Bernard-Soulier syndrome (BSS), a bleeding disorder in which platelets are giant and have multiple functional defects.

GPIX

giant


Input: The most frequent cause of familial clear cell renal cell carcinoma (RCC) is von Hippel-Lindau disease and the VHL tumor suppressor gene (TSG) is inactivated in most sporadic clear cell RCC.

TSG

clear cell renal cell carcinoma


Input: Remodeling of extracellular matrix (ECM) plays an important role in both atherosclerosis and aneurysm disease.

ECM

aneurysm


Input: CEBPA mutation is apparently the primary event in the development of AML in this family.

CEBPA

AML

CEBPA

AML


Input: European combined analysis of the CTG18. 1 and the ERDA1 CAG/CTG repeats in bipolar disorder.

bipolar disorder

bipolar disorder


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

hyperlipidemia


Input: Mutations in FEZF1 cause Kallmann syndrome.

Kallmann syndrome

Kallmann syndrome


Input: Identification of mutations in the AVPR2 gene can facilitate early diagnosis of NDI, which can prevent serious complications such as growth retardation and mental retardation.

NDI

NDI


Input: We conclude that the hypolipidemic effects of simvastatin in patients with heterozygous familial hypercholesterolemia are paralleled by a decrease in urinary mevalonate, but that the drug does not adversely affect ACTH-stimulated adrenal corticosteroid production.

ACTH

familial hypercholesterolemia


Input: Association between a novel variant of the human type 2 deiodinase gene Thr92Ala and insulin resistance: evidence of interaction with the Trp64Arg variant of the beta-3-adrenergic receptor.

beta-3-adrenergic receptor

insulin resistance


Input: Multiple microsatellite alterations and topographic intratumor heterogeneity characterize malignant pheochromocytomas, suggesting a multistep tumorigenesis through somatic topographic down-regulation of MMR proteins.

MMR

tumorigenesis


Input: The PRNP and PRND expression profiles were evaluated by real-time reverse transcription-quantitative PCR in low-and high-grade astrocytomas, in glioblastoma-derived cell lines and in non-glial tumor specimens.

PRND

glioblastoma


Input: Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4) and Pendred syndrome (PS), the most common type of autosomal-recessive syndromic deafness.

EVA

deafness


Input: Association of TNFSF11 gene promoter polymorphisms with bone mineral density in postmenopausal women.

TNFSF11 gene

bone mineral density


Input: Haploinsufficiency of Anx7 tumor suppressor gene and consequent genomic instability promotes tumorigenesis in the Anx7 (+/-) mouse.

tumorigenesis


Input: These encouraging observations led to the initiation of two large, prospective, placebo-controlled randomised clinical trials whose primary outcome is the prevention of type 2 diabetes: the DREAM (Diabetes REduction Approaches with ramipril and rosiglitazone Medications) trial with the ACE inhibitor ramipril and the NAVIGATOR (Nateglinide And Valsartan in Impaired Glucose Tolerance Outcomes Research) trial with the ARA valsartan.

DREAM

type 2 diabetes


Input: Moreover, emerging data indicate that TRPV1 antagonists could also be useful in treating disorders other than pain, such as urinary urge incontinence, chronic cough and irritable bowel syndrome.

urinary urge incontinence


Input: OBJECTIVES: We sought (i) to examine the effect of allergen inhalation challenge on expression levels of receptors for TSLP (thymic stromal lymphopoietin receptor [TSLPR] and CD127) and IL-33 (ST2) and (ii) investigate the functional effects of these cytokines on HPCs.

TSLP

inhalation


Input: Female mice carrying mutated FSHR gene, called follitropin receptor knockout (FORKO), display similar phenotype and are sterile because of a folliculogenesis block at a primary stage.

FSHR gene

sterile


Input: Because of the strong mesothelin expression in nonmucinous carcinomas of the ovary, but not in a variety of tumors with which these lesions may be confused (eg, clear cell carcinoma of the ovary versus endodermal sinus tumor or renal cell carcinoma, clear cell type; transitional cell carcinoma of the ovary versus TCC of the urinary tract), immunostaining for this marker could be useful in establishing the differential diagnosis.

mesothelin

clear cell carcinoma


Input: We report here that hypoxia inhibits mRNA translation by suppressing multiple key regulators, including eIF2alpha, eEF2, and the mammalian target of rapamycin (mTOR) effectors 4EBP1, p70S6K, and rpS6, independent of HIF.

mammalian target of rapamycin

hypoxia


Input: In contrast, lysophosphatidic acid (LPA), a glycerol backbone phospholipid mediator present in serum and ascites of ovarian cancer patients, is a potent inducer of GROalpha expression in ovarian cancer cell lines.

LPA

ascites


Input: The roles of CDX2 and GCC in suppressing intestinal tumorigenesis, universal disruption in their signaling through silencing of hormones driving GCC, and the uniform overexpression of GCC by tumors underscore the potential value of oral replacement with GCC ligands as targeted prevention and therapy for colorectal cancer.

tumorigenesis


Input: Together, these human and animal data support the hypothesis that an early age of drinking onset upregulates RAGE/TLR4-HMGB1 and other neuroimmune genes that persist into young adulthood and could contribute to risk of alcoholism or other brain diseases associated with neuroinflammation.

alcoholism

alcoholism


Input: The VEGF/KDR system jointly contributes to recurrent miscarriage in Taiwanese Han women.

VEGF

miscarriage


Input: Dystroglycan is a protein which binds directly to two proteins defective in muscular dystrophies (dystrophin and laminin alpha2) and whose own aberrant post-translational modification is the common aetiological route of neuromuscular diseases associated with mutations in genes encoding at least six other proteins (POMT1, POMT2, POMGnT1, LARGE, FKTN and FKRP).

neuromuscular diseases


Input: AIM: To compare the gene expressional levels of receptors for activins and inhibins in ovarian tissues between women with polycystic ovary syndrome (PCOS) and normal controls, and to analyze their biologically relevant associations with serum hormone levels.

AIM

polycystic ovary syndrome


Input: We propose that the expression of selected RNA-based HIV-1 inhibitors in the CD4 + cells derived from GM-HSPC will protect them from HIV-1 infection and results in a sufficient immune repertoire to control HIV-1 viremia resulting in a functional cure for HIV-1/AIDS.

viremia


Input: A specific inhibitor for Src family kinases, PP1, abolished the hypoxia-induced expression of EPAS1.

hypoxia


Input: A novel mutation in the keratin 13 gene causing oral white sponge nevus.

keratin 13

white sponge nevus

keratin 13

white sponge nevus


Input: The microarray analysis demonstrated that NMS induces a robust change in the expression of subsets of genes (CCL2, NOS3, THP1, NTRK1, CCR2, BDRKRB1, IL-10, TNFRSF1B, TRPV4, CNR1 and OPRL1) involved in pain transmission and inflammation.

inflammation


Input: Liver fibrosis and HCC development are strongly correlated, but there is no effective treatment against fibrosis because the critical mechanism of progression of liver fibrosis is not fully understood.

HCC

fibrosis


Input: We also found that rat PC12 pheochromocytoma cells, when induced to differentiate by NGF, displayed an increase of AP-2 protein levels and of Rb2/p130 transcription and protein levels.

pheochromocytoma


Input: Fluorescence in situ hybridization analyses, by the use of probes covering NUP98 and the HOXC gene cluster at 12q13, revealed a fusion signal at the der (11) t (11; 12), indicating a NUP98/HOXC chimera, whereas no fusion was found on the der (12) t (11; 12), suggesting that the translocation was accompanied by a deletion of the reciprocal fusion gene.

translocation


Input: Continued high-level viremia resulted in the physical loss of the majority of tetramer + CD4 T cells, and the decline of HIV p24-specific CD4 T cells occurred more rapidly and was more substantial than the reduction of total CD4 T cell numbers.

viremia


Input: Our results revealed 12 potential driver cancer genes including 10 tumor-suppressor candidates (ARID1A, INHBA, KMO, TTLL5, GRM8, IGFBP3, AKTIP, PHKA2, TRPS1, and WNT11) and two oncogene candidates (ERBB3 and RPS6KC1).

tumor


Input: Taken together, these data suggest the involvement, especially by overexpression, of the BRCA2 gene in sporadic breast tumours, and the existence of another important tumour-suppressor gene in breast cancer, in the 13q12-q13 region.

BRCA2 gene

sporadic


Input: In the treated eye with recurrent ROP, VEGF mRNA was not detected in the photocoagulated areas of retina but was increased between laser scars.

VEGF

scars


Input: TES, a LIM domain-containing tumour suppressor gene and component of the focal adhesion complex, is involved in adhesion, motility, cell-to-cell interactions and cell signalling.

TES

adhesion


Input: To examine associations between rs9883204 in ADCY5 and rs900400 near LEKR1 and CCNL1 with birth weight in a preterm population.

birth weight


Input: We sequenced genomic DNA and RT-PCR products in the iduronate sulfatase (IDS) gene in 6 unrelated patients with Hunter syndrome to assess genotype/phenotype relationships and offer carrier testing where required.

IDS

Hunter syndrome

IDS

Hunter syndrome


Input: These data provide additional support to the hypothesis that exposure to carcinogens (presumably HAAs) through consumption of well-done meat increases the risk of CRC, particularly in individuals who are genetically susceptible (as determined by a rapid phenotype for both NAT2 and CYP1A2) and suggest that smoking, by inducing CYP1A2, facilitates this effect.

smoking


Input: Similarly, intrathecal IL-1ra administered after the establishment of morphine tolerance reversed hyperalgesia and prevented the additional development of tolerance and allodynia.

allodynia

allodynia


Input: We show here that CCN1 (CYR61) supports the adhesion of prostatic carcinoma cells as an adhesion substrate through integrins and heparan sulfate proteoglycans.

adhesion


Input: To further characterize the molecular difference between genotypes, the authors evaluated the expression of 37 immunohistochemical markers in a tissue microarray (TMA) containing cores from 20 BRCA1, 14 BRCA2, and 59 sporadic age-matched breast carcinomas.

sporadic


Input: We suggest that AVP would undergo accelerated proteolytic degradation, and this mechanism would be involved in the pathogenesis of DI in this pedigree.

AVP

DI

AVP

DI


Input: All patients were characterized by early adult onset, preferential atrophy, and weakness of calf muscles, marked elevation of serum creatine kinase levels, and absence of dysferlin staining.

dysferlin

atrophy


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

body fat percentage


Input: Our objective was to investigate whether genetic variants of the uncoupling protein 1 (UCP1) gene are associated with juvenile-onset obesity or alterations in weight gain and insulin sensitivity in young healthy Caucasians.

insulin sensitivity


Input: We examined maspin expression immunohistochemically in 41 cases with endometrioid adenocarcinoma.

maspin

endometrioid adenocarcinoma


Input: Eighteen HNPCC-related endometrial cancers, each matched by tumour type, stage and grade with two sporadic endometrial cancers, were examined for proliferation, apoptosis and the expression of oestrogen and progesterone receptors, cyclin B1, D3 and E, p21, p27, bcl-2, bax, p53 and COX-2.

sporadic


Input: However, smoking intensity increased CRC risk among carriers of both NAT1 and NAT2 fast.

smoking


Input: A combination of hypoxia and hypertrophy can induce the adverse effect of PLN-Ser16 dephosphorylation.

PLN

hypertrophy


Input: The current case-control study was conducted in order to elucidate any possible association of the single nucleotide polymorphism (SNP) of codon 72 of the p53 gene (Arg72Pro) and sporadic colorectal adenocarcinoma development in a Caucasian population in Greece.

p53 gene

sporadic


Input: The revised 2008 WHO classification recognizes both molecularly defined (' myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1') and undefined (chronic eosinophilic leukemia, not otherwise specified) eosinophilic myeloid disorders.

PDGFRA

abnormalities


Input: The aim of this study was to report if APC and WTX may be associated with FAP-associated and sporadic ACT.

ACT

sporadic


Input: One of the compounds, withaferin A (WA), a major constituent of the dietary compound Withania somnifera, induced Par-4-dependent apoptosis in androgen-refractory prostate cancer cells and regression of PC-3 xenografts in nude mice.

regression


Input: Caprin-1 is a target of the deafness gene Pou4f3 and is recruited to stress granules in cochlear hair cells in response to ototoxic damage.

deafness


Input: Our data indicate that the RECQL4 gene is not a frequent target for somatic mutations in sporadic OS unrelated to RTS.

RECQL4 gene

sporadic


Input: In 86 Spanish NC21OHD children (75 families) an analysis of the 21-hydroxylase (21-OH) gene was performed by CYP21B-specific polymerase chain reaction amplification, allele-specific oligonucleotide hybridization and Southern blotting.


Input: We performed a blind chromosomal analysis on G2-phase lymphocytes from 7 unrelated A-T patients, 13 obligate A-T heterozygotes (parents of the patients), and 14 normal controls following X-irradiation with 1 Gy in order to evaluate this cytogenetic method as a tool for detection of ATM carriers.

ATM

blind


Input: Multiple linear regression analyses revealed that glycated hemoglobin (P < 0. 0001) and body mass index (P = 0. 048) contributed independently to explain 13. 7% (P < 0. 0001) of the OM p53 variance.

body mass index


Input: Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

X linked hydrocephalus

X linked hydrocephalus


Input: Toll-like receptor 2 (TLR2)-deficiency is associated with the preservation of vascular function and TLR2-deficient (TLR2 (-/-)) mice exhibit increased neovascularization following induction of hindlimb ischemia.

ischemia


Input: RANTES promoter polymorphisms were found associated with asthma/atopy in some studies but not others, possibly reflecting the genetic heterogeneity among different ethnicities and different asthma severity.

RANTES

atopy


Input: Here we report four novel mutations in GALK1 that were identified in two unrelated patients with galactokinase deficiency.

galactokinase deficiency

galactokinase deficiency


Input: Increased activated human T cell lymphotropic virus type I (HTLV-I) Tax11-19-specific memory and effector CD8 + cells in patients with HTLV-I-associated myelopathy/tropical spastic paraparesis: correlation with HTLV-I provirus load.

tropical spastic paraparesis


Input: One hundred and eleven serrated polyps, consisting of 45 HPs (30 microvesicular, 11 goblet cell, 4 mucin depleted) and 56 SSA/Ps (36 with dysplasia, 20 without dysplasia), were retrieved from the pathology files of a large medical center in Korea and 38 SSA/P from American patients were evaluated for BRAF and KRAS mutations, microsatellite instability, and hypermethylation of O6-methylguanine-DNA methyltransferase (MGMT), hMLH1, adenomatous polyposis coli (APC), p16, methylated in tumor-1 (MINT-1), MINT2, and MINT31.

polyps


Input: Blood leukocytes of 16 patients with alcoholic liver cirrhosis and 18 healthy controls were induced for interferon (IFN) production by phytohemagglutinin (PHA) and concanavalin A (ConA) in the presence or absence of isoprinosine and levamisole at concentrations of 10 micrograms/ml and 1 ng/ml.

IFN

alcoholic liver cirrhosis


Input: The introduction of NPM-MLF1 into early-passage murine embryonic fibroblasts allowed the cells to escape from cellular senescence at a markedly earlier stage and induced neoplastic transformation in collaboration with the oncogenic form of Ras.

NPM

neoplastic transformation


Input: In contrast, serum SHBG values were negatively associated with body mass index (BMI) and homeostasis model assessment of insulin resistance in the PCOS group (B =-0. 285 and-0. 264, respectively; P < 0. 01).

SHBG

body mass index


Input: We studied senile plaque (SP), neurofibrillary tangles (NFT) and SP phenotype associations with 6 reported haplotype tagging single nucleotide polymorphisms (SNPs) in the CRP gene.

CRP gene

neurofibrillary tangles


Input: FTLD-MND due to TDP-43-proteinopathy should be considered in patients with rapidly progressive parkinsonism and dementia phenotype, especially when aphasia and/or weakness are also present.

aphasia


Input: In comparison to the TTR stabilizer, tafamidis, RNAi-mediated TTR knockdown led to greater regression of TTR deposits across a broader range of affected tissues.

TTR

regression


Input: These findings suggest that the ADH1C * 2-2 genotype is associated with susceptibility to smoking and drinking-related HNSCC by modifying the biologically effective dose of alcohol.

smoking


Input: In DNA derived from peripheral blood from a schwannomatosis patient and a sporadic schwannoma sample, we detected rearrangements of the immunoglobulin lambda (IGL) locus, which is unlikely to be due to a B-cell specific somatic recombination of IGL.

IGL

sporadic


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

depression

depression


Input: Fat saturation and T1-weighted MRI was performed with images being scored for active bone marrow oedema (BMO) lesions representative of inflammation.

MRI

inflammation


Input: CPT was extremely effective in inducing apoptosis of Y79 retinoblastoma cells.

CPT

retinoblastoma


Input: Amplification of the telomerase RNA component gene in the process of human esophageal carcinogenesis.

telomerase RNA component gene

esophageal


Input: HSulf-1 modulates FGF2-and hypoxia-mediated migration and invasion of breast cancer cells.

hypoxia


Input: We found that Wnt16 and many Wnt signaling-related genes were upregulated in the translocation-containing cells.

translocation


Input: A search for downstream signals revealed that diabetes mellitus decreased the nuclear localization of Notch1 intracellular domain and reduced the expression of VE-cadherin and N-cadherin in endothelial cells.

N-cadherin

diabetes mellitus


Input: Multiple mammary tumors of adenocarcinoma type were induced in all females, while 83% of treated males developed adenocarcinomas, sarcomas and transitional carcinosarcomas, as evidenced by casein and vimentin immunoreactivity.

vimentin

carcinosarcomas

vimentin

carcinosarcomas


Input: Interplay of immunoglobulin G heavy chain markers (Gm) and HLA in predisposing to systemic lupus nephritis.

heavy chain

lupus nephritis


Input: The ubiquitous and prevalent expression of pituitary adenoma PTTG suggests that PTTG plays a role in pituitary tumorigenesis and invasiveness.

PTTG

pituitary adenoma


Input: Tests of linkage and allelic association between markers in the 1p36 PRKCZ (protein kinase C zeta) gene region and bipolar affective disorder.

protein kinase C zeta

bipolar affective disorder

protein kinase C zeta

bipolar affective disorder


Input: Here we report that GATA-6 is markedly reduced in pulmonary ECs lining both occluded and nonoccluded vessels in patients with idiopathic and systemic sclerosis-associated PAH.

GATA

systemic sclerosis


Input: This FA core complex possesses a putative helicase and an E3 ubiquitin ligase subunit, is assembled in both the nucleoplasm and in chromatin, and is required for the mono-ubiquitination of FANCD2, a downstream FA protein, following genotoxic stress.

E3 ubiquitin ligase

mono


Input: miR-137 may be epigenetically silenced during uveal melanoma tumorigenesis.

tumorigenesis


Input: Trauma-hemorrhage led to an increase in intestinal MPO activity and lactate, TNF-alpha, IL-6, ICAM-1, CINC-1, and MIP-2 levels.

MPO

hemorrhage


Input: Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura.

CACNA1A gene

aura


Input: Alterations in the expression of depolarized MUC1, MUC5AC, and MUC6 were correlated significantly with p53 gene abnormalities.

abnormalities


Input: EN is generated by a t (12; 15) translocation, which fuses the N-terminal SAM (sterile α-motif) domain of the ETV6 (or TEL) transcription factor to the C-terminal PTK (protein-tyrosine kinase) domain of the neurotrophin-3 receptor NTRK3.

TEL

sterile


Input: Overexpression of the erbB-1 (EGFR, epidermal growth factor receptor) and erbB-2 (HER2/neu) proteins contributes to the aggressive behavior of malignant tumors originating from the endometrium.

aggressive behavior


Input: Integrin & #945; 3 (ITGA3) gene mutations are associated with Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa (ILNEB syndrome).

ILNEB

ILNEB


Input: Effects of GH were significant for fat accretion and plasma urea depression.

GH

depression

GH

depression


Input: Inflammation, insulin resistance, and diabetes--Mendelian randomization using CRP haplotypes points upstream.

CRP

insulin resistance


Input: In contrast, high doses (500-1500 microg x kg (-1)) of GR127935 suppressed 5-HT-induced pressor responses in the rat and cat and urinary bladder contractions (secondary phase) in the cat as well as the DOI ((+/-)-1-(2, 5-dimethoxy-4-iodophenyl)-2-aminopropane hydrochloride)-induced pressor responses in the rat, which are all mediated by 5-HT2A receptors.

secondary


Input: The TT genotype of the LIPC variant was associated with a reduced risk of AMD, with odds ratios (OR) of 0. 50 (95% confidence interval (CI) 0. 20-0. 90) and p = 0. 014 for the TT genotype versus the CC genotype, controlling for age, gender, smoking, body mass index (BMI), and nutritional factors.

LIPC

smoking


Input: Thus, TLR4 pathway should seem to have a key role in sporadic TAA.

sporadic


Input: Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.

epsilon-sarcoglycan

Myoclonus dystonia syndrome

epsilon-sarcoglycan

Myoclonus dystonia syndrome


Input: We comprehensively screened CTLA4 for novel genetic variations in patients with MS. We studied genetic variations by association methods in a population-based sample of 122 sporadic patients with MS and 244 age-, gender-and ethnicity-matched controls, and by linkage and family-based association methods in 395 individuals from 59 American multiplex pedigrees with 141 affected individuals.

sporadic


Input: These findings suggested that the expression levels of PLC isozymes are altered by hyperoxia and ACN, but there are apparent differences in these altered levels between the different levels of oxidative stress, and between the organs.

ACN

hyperoxia


Input: The promyelocytic leukemia cell line HL60 treated with vitamin D showed higher expression of AQP9 and hypersensitivity to Trisenox and Sb (III).

hypersensitivity


Input: When thrombin is bound to thrombomodulin, it can convert protein C to APC but cannot convert fibrinogen, factor V, or factor VIII.

factor VIII

fibrinogen


Input: hSRBC transcript was expressed in all normal and benign tumor tissues examined, but undetectable or very low in 73% (11/15) cancer cell lines and 41% (46/111) primary tumors.

hSRBC

benign tumor


Input: The observed microarray phenotype in the human hippocampus identified RECK and other region-specific genes that may promote long-lasting structural changes with repeated cocaine abuse.

RECK

cocaine abuse

RECK

cocaine abuse


Input: Recent studies have suggested that allelic variations in the adrenergic receptor beta2 gene, the interleukin (IL)-4 gene and its receptor gene are closely associated with immune diseases.

immune diseases


Input: To determine whether chromosomal aberrations could be detected by fluorescence in situ hybridization (FISH) on fine-needle aspiration biopsies (FNABs), we analyzed and compared specimens from seven patients with SLL and nine patients with a history of SLL that had transformed to large cell lymphoma.

FISH

large cell lymphoma


Input: GLN increased O-GlcNAc modification of HSF-1 and Sp1 at 1 and 2 hours after sepsis (P <. 001 vs saline).

sepsis


Input: Transient global ischemia is a neuronal insult that induces delayed, selective death of hippocampal CA1 pyramidal neurons.

ischemia


Input: To date, 15 different P450c17 mutations have been described in 23 patients with 17 alpha-hydroxylase deficiency, indicating that mutations in this gene are due to random events.

17 alpha-hydroxylase deficiency

17 alpha-hydroxylase deficiency


Input: The expression levels of ICAM-1 and NF-kappaB p65 in the small and median pulmonary artery endothelin cells of the 4-week shunt + PPG group were both significantly stronger than those of the 4-week shunt group (P < 0. 05 or P < 0. 01), whereas the expression of IkappaBalpha was weaker than that of the 4-week shunt group (P < 0. 05).

PPG

shunt


Input: The inhibition of apoptosis was associated with a decrease in expression of the proapoptotic molecules, BAK and BAX, and activation of the antiapoptotic phosphatidylinositol 3 kinase (PI3K) and AKT pathway, providing potential mechanisms for the effects of RAB25 on tumor aggressiveness.

BAX

aggressiveness


Input: [The human alpha (2A)-AR gene and the genotype of site-1296 and the susceptibility to motion sickness].

AR gene

motion sickness


Input: Lehmann et al., [2003, 2006] have documented two different substitutions at position 486 of the BMPR1B gene which resulted in a phenotype of brachydactyly A2 [MIM 112600] or brachydactyly C with symphalangism [MIM 113100].

MIM

symphalangism


Input: Never-smoking XRCC1-399Gln homozygotes had an average DNA adduct level of 15. 60 +/-5. 42 compared with 6. 16 +/-0. 97 in Gln/Arg heterozygotes and 6. 78 +/-1. 10 in Arg/Arg homozygotes (F = 5. 237, P = 0. 007).

smoking


Input: Although germline brca2 mutations may account for a small proportion of all OM cases, there may be additional loci that contribute to familial aggregation of OM and to the familial association between OM and breast cancer.

breast cancer

breast cancer


Input: The results are consistent with the previous finding that UMS is caused by haploinsufficiency of TBX3, and imply that mild gonadotropin deficiency may be the primary cause for underdeveloped external genitalia in males with UMS.

mild


Input: Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.

Rett syndrome

Rett syndrome


Input: These differences in the DNA-binding properties between HsRad51 (R150Q) and HsRad51 may be important to account for the tumorigenesis in breast cancer patients with the HsRad51 (R150Q) mutation.

tumorigenesis


Input: More recently, the additional expression of the costimulatory molecules B7-1 (CD80) and B7-2 (CD86) on antigen presenting cells were found to play an important role in the activation of T-lymphocytes in transplant rejection.

transplant rejection


Input: In unilaterally 6-OHDA-lesioned rats with LID, we show that the time course of viral vector-mediated striatal RGS9-2 overexpression parallels the time course of improvement of L-dopa-induced involuntary movements.

involuntary movements


Input: Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p. Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome.

Timothy syndrome

Timothy syndrome


Input: These results prompted us to investigate the roles of IL-1Ra in APAP-induced ALF mice.

ALF

ALF


Input: The voltage-gated potassium channel Kv3. 3 is the causative gene of SCA13 (spinocerebellar ataxia type 13), an autosomal dominant neurological disorder.

spinocerebellar ataxia type 13

spinocerebellar ataxia type 13


Input: Expression of growth arrest and DNA damage-inducible protein, GADD34 and proliferating cell nuclear antigen (PCNA) have been investigated in the core and peri-infarct zone at 2 and 24 h after middle cerebral artery occlusion (MCAO).

middle cerebral artery occlusion


Input: Specific enfuvirtide resistance mutations (V38A/E) are associated with a sustained CD4 increase, without remarkable effects upon viraemia.

viraemia


Input: We determined the frequency of PINK1 mutations by direct sequencing in a large series of PD patients with apparently sporadic disease (n = 768).

sporadic


Input: Wilms' tumorigenesis is altered by misexpression of the transcriptional co-activator, CITED1.

tumorigenesis


Input: Impulsivity mediated the effect of GABRA2 on alcohol problems, hyperactive-inattentive symptoms, and conduct problems, whereas sensation seeking mediated the effect of GABRA2 on alcohol problems (AA/AG genotypes conferred risk).

inattentive


Input: Recently, a transthyretin variant, TTR Met 119, in which methionine substitutes for threonine 119, a component of the protein' s iodothyronine binding site, was identified in individuals with transient euthyroid hyperthyroxinemia.

TTR

euthyroid hyperthyroxinemia


Input: Two SNPs near the BAT2 and MC4R genes and 3 SNPs within the FTO, SEC16B, and SH2B1 genes were significantly associated with body mass index (weight (kg)/height (m) (2)), body weight, and the prevalence of obesity.

height


Input: CVB-4 infection transiently up-regulated expression of the adhesion molecules ICAM-1 and VCAM-1 and increased production of the proinflammatory cytokines IL-1beta and IL-6, and chemokines IL-8 and lymphotactin, as well as IFN-alpha.

lymphotactin

adhesion


Input: Altogether, these observations suggest a novel role for miR-184 in RPE health and support a model proposing that downregulation of miR-184 expression during aging may result in dysregulation of RPE function, contributing to retinal degeneration.

RPE

retinal degeneration


Input: This replication effort identified five new SLE susceptibility loci (P & lt; 5 x 10 (-8)): TNIP1 (odds ratio (OR) = 1. 27), PRDM1 (OR = 1. 20), JAZF1 (OR = 1. 20), UHRF1BP1 (OR = 1. 17) and IL10 (OR = 1. 19).

SLE

SLE


Input: Expression of NG2 has been reported in the majority of paediatric acute leukaemia (AL) cases with MLL rearrangement.

acute leukaemia


Input: Moreover, Type A C4. 4A expression was linked to shorter liver metastasis-free survival rate, lung metastasis-free survival rate, or hematogenous metastasis-free survival (P = 0. 0279, P = 0. 0061, and P = 0. 0006, respectively).

C4. 4A

lung metastasis


Input: Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome.

Marfan syndrome

Marfan syndrome


Input: The present study provides the first evidence that PGD (2) participates in the differentiation of adipocytes and in insulin sensitivity in vivo, and the H-PGDS TG mice could constitute a novel model mouse for diabetes studies.

H-PGDS

insulin sensitivity


Input: Opioid peptides play an essential role in the modulation of micturition reflex and control of inflammatory pain. PPE is one such precursor molecule.

PPE

pain

PPE

pain


Input: We hypothesized that genetically determined ABO histo-blood group antigen (ABH) differences in glycosylation may lead to differences in microbial binding by airway mucus, and thus predispose to early lung infection and more severe lung disease in a subset of patients with CF.

ABH

lung disease


Input: The IL6-174 G > C (Minor allele frequency (MAF) = 48%) gene promoter polymorphism was associated with the primary outcome total fat mass (P = 0. 006) and regional fat masses, but not with lean body mass.

MAF

lean body mass


Input: Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.

bleeding


Input: The most prominent differences between advanced and local adenocarcinoma were upregulation of COL3A1, CFGR, and MET in advanced carcinoma, and downregulation of HGFAC, FZD3, and BFL1 in the same tumors.

HGFAC

advanced carcinoma


Input: Single-bolus injection of recombinant tissue-type plasminogen activator in acute myocardial infarction.

tissue-type plasminogen activator

myocardial infarction

tissue-type plasminogen activator

myocardial infarction


Input: LKB1 gene mutations appear to be frequent in male, smoking patients of Caucasian origin, in contrast to EGFR or HER2 mutations that are frequent in non-smoking, female patients of Asian origin.

smoking


Input: Twenty-five control serum specimens, which included sera from syphilitic, relapsing fever, and amyotrophic lateral sclerosis patients as well as from 10 normal individuals, did not react to P39.

amyotrophic lateral sclerosis


Input: Macrophage migration inhibitory factor (MIF), a cytokine that controls cell-mediated inflammatory responses, is upregulated in atherogenesis; however, its functional contribution to lesion development has not been evaluated.

MIF

atherogenesis


Input: Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

CENPE

microcephalic primordial dwarfism

CENPE

microcephalic primordial dwarfism


Input: They include uncommon manifestations like autoimmune adrenal insufficiency (AI), hypoparathyroidism, and chronic mucocutaneous candidiasis plus autoantibodies neutralizing IL-17, IL-22, and type I IFNs.

adrenal insufficiency


Input: By generating stable transfectants, ARHI was reexpressed in pancreatic cancer cells that had lost its expression.

ARHI

pancreatic cancer


Input: Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

cataracts

cataracts


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

ECM

pseudoexfoliation


Input: Comparison of clinical data showed that patients who expressed 5-LO and FLAP had a lower glomerular filtration rate and an increased level of blood urea nitrogen, serum creatinine, and proteinuria.

proteinuria


Input: On a molecular basis, PS skin fibroblasts had reduced ERAL1 protein levels.

PS

PS


Input: We identified three gene signatures: Chromogranin A (CgA), MAGE-D2 (adhesion), and MTA1 (metastasis) that define gastrointestinal (GI) carcinoids and hypothesize that their expression can delineate gastric neoplasia.

Chromogranin A

adhesion


Input: Whether the protease-resistant PrP plays a primary or secondary role in the pathogenesis of this form of PSG remains to be determined.

PSG

secondary


Input: TNF2 allele was associated with death as a result of ASP-associated septic shock.

ASP

septic shock


Input: Recently, somatic mutations of the NF2 gene have been identified in sporadic meningiomas, thus supporting the hypothesis that the NF2 gene is also important in meningioma pathogenesis.

NF2 gene

sporadic


Input: Cell lines with i (5) (p10) and i (8) (q10) showed gains of the entire chromosome arms of 5p and 8q by CGH.

arms


Input: The mRNA expression of AM and RAMP2, in the glomeruli of Thy. 1 glomerulonephritis changed similarly over time.

glomerulonephritis


Input: Gab2 is a member of the Dos/Gab subfamily scaffolding molecules and plays important roles in regulating growth, differentiation, and inflammation.

inflammation


Input: Laboratory findings include: (1) spontaneous chromosomal breakage in peripheral T lymphocytes with rearrangements preferentially involving chromosomes 7 and 14, (2) sensitivity to ionizing radiation or radiomimetics as demonstrated in vitro by cytogenetic methods or by colony survival assay, (3) radioresistant DNA synthesis, (4) biallelic hypomorphic mutations in the NBN gene, and (5) absence of full-length nibrin protein.

nibrin

chromosomal breakage


Input: Pleomorphic sarcomas such as osteosarcomas revealed aneuploidy with remarkably higher MDC (1. 70 in osteosarcomas, p < 0. 01) and SPF (6. 5, p < 0. 01), but lower RDR (1. 70, p < 0. 01).

MDC

aneuploidy


Input: In the chosen system, classical mutations do not show any significant enzymatic activity, whereas mutations associated with a mild course yield significant ASS activity levels.

ASS

mild


Input: We wondered whether KCa3. 1 inhibition could prevent the acquisition of a pro-tumor phenotype by M/MΦ cells, thus contributing to reduce glioma development.

KCa3. 1

glioma


Input: Thus, we explored the role of Mir-217 on inflammation and fibrosis in RMCs cultured with high glucose in vitro through Sirt1/HIF-1 & #945; signaling pathway.

fibrosis

fibrosis


Input: Our finding BCR and ABL located within two of the instability-associated regions, and the involvement of these two regions occurring coordinately, suggests a system akin to the BCR-ABL translocation of CML may be involved in genomic instability in about one-third of human colorectal carcinomas.

BCR

genomic instability


Input: It has also been suggested that genomic instability is the initiating event in colorectal tumorigenesis and, if this is true, mutations of DNA mismatch repair (MMR) genes (or at similar loci) are the most likely candidates.

MMR

tumorigenesis


Input: Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea.

LCAT

fish-eye disease

LCAT

fish-eye disease


Input: Among the seven Behave-AD subscale scores, aggressiveness was positively correlated with the plasma BDNF level (ρ = 0. 237, P < 0. 005), but did not differ significantly among the three BDNF Val66Met genotypic groups.

BDNF

aggressiveness


Input: We hypothesized that menadione causes dissociation of GSTA1-JNK complexes, activates JNK, and the consequences of menadione exposure depend on GSTA1 expression.

dissociation


Input: Among these, 30 out of 272 (11. 0%) azoospermic men and 29 out of 472 (6. 1%) infertile men with OAT showed chromosomal abnormalities.

OAT

infertile


Input: RESULTS There was no association between the BDNF Val66Met polymorphism and overall endometriosis (P > 0. 05), whereas higher genotype and allele frequencies of the BDNF (Met) polymorphism were found in the Stage III-IV endometriosis (both P < 0. 01) and endometriosis-related infertile patients (both P < 0. 05).

BDNF

infertile


Input: We found that the polymorphisms of P53 (rs1042522) and MDM2 (rs2279744) are associated with gastric cancer risk, whereas no significant association was observed between variant genotype of other two polymorphisms (MDM4 rs1380576 and Hausp rs1529916) and gastric cancer risk.

Hausp

gastric cancer


Input: AID and GANP, both appearing in antigen-driven B cells, are involved in affinity maturation of the immunoglobulin V-region with increased somatic mutation.

AID

somatic mutation


Input: PRKAR1A is a key component of the cAMP signaling pathway that has been implicated in endocrine tumorigenesis and could, at least partly, function as a tumor suppressor gene.

tumorigenesis


Input: Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1).

hypochondrogenesis

hypochondrogenesis


Input: The cellular rejection response was accompanied by the generation of CD8 + cytotoxic T-cells, CD4 + delayed-type hypersensitivity, and little anti-MUC1 antibody.

hypersensitivity


Input: Pachydermoperiostosis or primary hypertrophic osteoarthropathy (HOA) is a rare congenital growth disorder of connective tissue.

HOA

disorder of connective tissue


Input: In Northern blot analysis, MCP-1 mRNA expression was not observed in unstimulated cultured rat vascular smooth muscle cells (VSMC), but its expression was clearly observed by exposure to tumour necrosis factor-alpha (100 U/ml) for 2-6 h. Mitogen-activated protein kinase activity in VSMC incubated in serum-free culture medium was increased by exposure to 0. 5% fetal bovine serum, while the effect was significantly suppressed in the presence of MCP-1 (100 ng/ml).

necrosis


Input: Prediction of successful weight reduction under sibutramine therapy through genotyping of the G-protein beta3 subunit gene (GNB3) C825T polymorphism.

weight reduction


Input: In 15 dogs with OSA, relative RANKL expression did not correlate with either radiographic osteolysis or bone mineral density as assessed by dual energy x-ray absorptiometry.

RANKL

bone mineral density


Input: There is significant elevation of insulin resistance and serum levels of fasting glucose, insulin, TNF-alpha, IL-6, CRP, and FFAs in the diabetic group when compared to the normal group, with positive significant correlation between levels of each of TNF-alpha, IL-6, CRP, and FFAs with insulin resistance (HOMA-IR).

CRP

insulin resistance


Input: We have identified a 15-bp microdeletion in a highly conserved region of the mitochondrially encoded gene for cytochrome c oxidase (COX) subunit III in a patient with severe isolated COX deficiency and recurrent myoglobinuria.

COX

recurrent myoglobinuria


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

SAC

sporadic


Input: The impaired activity of FALDH leads to the clinical symptom triad of generalized ichthyosis, mental retardation, and spastic diplegia or tetraplegia.

FALDH

generalized ichthyosis


Input: Decreased expression of renal HSP72 may contribute to activate the TLR4-initiating inflammatory signal pathway, attributing partly to the pathogenesis of hepatorenal syndrome in biliary cirrhosis.

biliary cirrhosis


Input: We speculate the role of increased Palb activity in the recurrence of proteinuria following transplantation in NPHS1.

Palb

proteinuria


Input: Furthermore, we demonstrate that TOP2B influences the separation between RUNX1 and two translocation partners (RUNX1T1 and EVI) in the nucleus of lymphoid cells.

translocation


Input: These results suggest that SON is the first nucleus to respond to the dehydration stimulus.

SON

dehydration


Input: IKBKE emerged as a candidate for further studies of genetic factors associated with panic disorder and major depressive disorder.

IKBKE

major depressive disorder

IKBKE

major depressive disorder


Input: Molecular characterization of factor X deficiency associated with borderline plasma factor X level.

factor X

factor X deficiency

factor X

factor X deficiency


Input: Mutation analysis of DYSF revealed novel compound heterozygous mutations of p. Tyr309X and c. 236 + 1G & gt; T in two related MM patients, known homozygous mutations, p. Arg89X and p. Gln176X, in two MM patients and a heterozygous missense mutation, p. Arg555Trp, in a DMAT patient.

DYSF

DMAT

DYSF

DMAT


Input: To determine the carrier frequency of GATM deficiency, we performed functional characterization of rare missense variants in GATM reported as heterozygous in the Exome Variant Server database.

GATM

GATM deficiency

GATM

GATM deficiency


Input: Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.

emerin

X-linked Emery-Dreifuss muscular dystrophy

emerin

X-linked Emery-Dreifuss muscular dystrophy


Input: Herein, we report our new observation that transplantation of C3aR (-/-) HSPCs into lethally irradiated recipients results in: (1) approximately 5-7 day delay in recovery of platelets and leukocytes; (2) decrease in formation of day 12 colony-forming units-spleen; and (3) decrease in the number of donor-derived CFU-granulocyte-macrophage progenitors detectable in the bone marrow cavities at day 16 after transplantation.

cavities


Input: The gene for ataxia-telangiectasia, ATM, spans about 150 kb of genomic DNA.

ATM

ataxia-telangiectasia

ATM

ataxia-telangiectasia


Input: To evaluate the potential association between p53 codon 72 polymorphism and sporadic colorectal adenocarcinoma development, and human papillomavirus (HPV) infection.

sporadic


Input: CONCLUSIONS: TP53 mutation-associated genomic instability may promote chromosome 7 accumulation and MDR1 amplification during ovarian cancer chemoresistance and recurrence.

genomic instability


Input: This study establishes that protease signaling contributes to mammary tumor development and that PAR2, rather than the thrombin receptor PAR1, plays a crucial role in the angiogenic switch.

mammary tumor


Input: Collectively, our data reveal that PLD1 has a crucial role in intestinal tumorigenesis via its modulation of the E2F1-miR-4496-β-catenin signaling pathway.

tumorigenesis


Input: Allelic variants in the GABA (A) alpha6 receptor subunit gene (GABRA6) is associated with abdominal obesity and cortisol secretion.

abdominal obesity


Input: Control blood samples and exfoliated mouth epithelial cells from healthy individuals showed a low level of DOK1 methylation, suggesting that DOK1 hypermethylation is a tumour specific event.

tumour


Input: Tumor necrosis factor-alpha antagonism protects from myocardial inflammation and fibrosis in experimental diabetic cardiomyopathy.

Tumor necrosis factor-alpha

diabetic cardiomyopathy

Tumor necrosis factor-alpha

diabetic cardiomyopathy


Input: The common allelic variants of SP-A1, SP-A2, SP-B, SP-C, and SP-D genes are associated with respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), or respiratory syncytial virus (RSV) bronchiolitis.

bronchiolitis


Input: Further analysis by subtype of ischemic CVD showed an association of ACT Isehara-1 with lacunar infarction (P = 0. 0036).

ACT

lacunar infarction


Input: In carcinomas, variations of DUOX1 and DUOX2 mRNA levels were parallel, indicating that control mechanisms of both gene expressions operate in tumors as well as in normal thyroid tissues; DUOX1 expression was in the normal range in 20, was decreased up to 50-fold in 8, and increased up to 7-fold in 19 samples.

carcinomas


Input: Mutations of SLC26A4 cause Pendred syndrome, an autosomal recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA).

EVA

deafness