Input: The IL4, IL13, and IL4 receptor α chain (IL4RA) genes are candidate genes for atopic diseases.

atopic


Input: More than 85% of Ewing' s family tumors carry a specific chromosomal translocation that fuses the NH (2) terminus of the EWS gene to the COOH terminus of the FLI1 transcription factor.

EWS gene

chromosomal translocation


Input: This result suggests that smoking may induce inflammation measured as TNF-alpha level or WBC count and combinations of the GSTM1 and GSTP1 polymorphisms may modify the effect of smoking on serum TNF-alpha level.

inflammation


Input: Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.

dimethylglycine dehydrogenase

dimethylglycine dehydrogenase deficiency

dimethylglycine dehydrogenase

dimethylglycine dehydrogenase deficiency


Input: Combined bisulphite restriction analysis for methylation of FANCF, FANCB and NBS1 was used to investigate 81 sporadic acute childhood leukaemias.

FANCF

sporadic


Input: Specific attention was directed toward the DR3 and DR4 alleles, as these had previously been associated with worse prognoses in autoimmune and viral hepatitis.

viral hepatitis


Input: The changes in expression of seven transcripts, WDR35, FLF45244, DHCR24, TIGD7, TOPBP1, TSHZ1, and FAM8A1 were strongly correlated with the changes in body weight, fasting plasma glucose and glycosylated hemoglobin content.

hemoglobin


Input: Type 1 ryanodine receptor (RYR1) is a Ca2 + release channel in the sarcoplasmic reticulum of skeletal muscle and is mutated in some muscle diseases, including malignant hyperthermia (MH) and central core disease (CCD).

malignant hyperthermia


Input: In order to further explore the epigenetic mechanism of tumor suppressor gene RASSF1A inactivation, 5-aza-2'-deoxycytidine (5-Aza-CdR), a DNA methyltransferase inhibitor, was used to treat the human biliary tract carcinoma cell line QBC-939 at the concentration of 5 micromol/L for 24 h in this study.

biliary tract carcinoma


Input: Transcription suppression of SARI (suppressor of AP-1, regulated by IFN) by BCR-ABL in human leukemia cells.

SARI

leukemia


Input: This functional test on human cultured myotubes indicates that the alteration of their intracellular Ca2 + homeostasis may identify the predisposition to malignant hyperthermia.

malignant hyperthermia


Input: These results indicate that both PMA and ionomycin stimulate HSF1, but not HSF2, translocation and synthesis leading to the HSP-70 expression and that their effects are Ca (2 +)-dependent.

translocation


Input: The clone Huh7. 5 of human hepatoma Huh7 cells contains a mutation in RIG-I that is believed to be responsible for the improved replication of HCV in these cells relative to the parental strain.

RIG-I

hepatoma


Input: We analyze the modification of retinal fibers layer using the funduscopy and the optical coherence tomography (OCT) in two French patients having spinocerebellar ataxia associated with a spastic paraparesia with genetically confirmed ARSACS.

OCT

spinocerebellar ataxia


Input: PTB can be used as a predictive marker of CPT-11-induced severe neutropenia and FN.

PTB

neutropenia


Input: These results support the evaluation of this form of IL-2 gene therapy in additional patients with glioblastoma.

glioblastoma

glioblastoma


Input: Of these, four (Pten, Nmnat1, Slitrk2 and Otx2) were viewed as being crucial in the context of FASDs given their roles in the brain.

FASD

FASD


Input: Lung restricted T cell receptor AV2S3 + CD4 + T cell expansions in sarcoidosis patients with a shared HLA-DRbeta chain conformation.

sarcoidosis


Input: We investigated five cases of cardiac myxoma and one case of cardiac undifferentiated sarcoma by light and electron microscopy, in situ hybridization, immunohistochemical staining, and reverse transcriptase-polymerase chain reaction for cardiomyocyte-specific transcription factors, Nkx2. 5/Csx, GATA-4, MEF2, and eHAND.

GATA

undifferentiated sarcoma


Input: Our results suggested that the CYP26B1 splice variant is associated with the occurrence of BQ-related oral cancer.

oral cancer


Input: Folate treatment resulted in a significant decrease of tHcy and fibrinogen, while plasminogen and antithrombin III significantly increased.

antithrombin III

fibrinogen


Input: In the course of our search for the gene responsible for X-linked cone-rod dystrophy (COD1), we constructed a physical map and contig (encompassing the region between DXS556 and DXS228), and identified sequences showing homologies to the expressed sequence tags (ESTs) that matched CRSP2 (EXLM1) transcript.

cone-rod dystrophy


Input: Excessive production of interleukin (IL)-4, IL-13 and interferon (IFN)-gamma is thought to be important in the development of allergic disease and atopy.

atopy


Input: In addition, over-expression of the well known squamous cell carcinoma-associated miR-205 was linked to down-regulation of the DOK4 gene.

squamous cell carcinoma

squamous cell carcinoma


Input: The Pro12Ala polymorphism of the peroxisome proliferator-activated receptor (PPAR) γ2 gene seems to influence LPL functioning, but its role in obesity and insulin resistance status, which usually coexist in the clinical setting, has not been explored.

LPL

insulin resistance


Input: The overexpression of plectin might affect the organization of cytoskeleton, which might further cause tumorigenesis and morphological change of colorectal epithelial cells.

plectin

tumorigenesis


Input: These have shown that inhabitants of high-risk areas for stomach and esophageal cancer, patients with urinary tract infections (at risk for bladder cancer) and Thai subjects infected with liver fluke (at risk for cholangiocarcinoma) had significantly higher exposure to endogenous NOC.

NOC

esophageal cancer


Input: In the present study, we investigated the mRNA expression levels of HIF-1 (& #945; and & #946;) and its target genes (VEGF, GLUT1, PGK1, PFKFB3, and LDHA) in the peripheral white blood cells of patients with major depressive disorder (MDD) and bipolar disorder (BPD).

bipolar disorder

bipolar disorder


Input: Because alcohol dehydrogenase (ADH1B) His47Arg and mitochondrial aldehyde dehydrogenase (ALDH2) Glu487Lys single nucleotide polymorphisms (SNPs), which affect alcohol metabolism, have been reported to exert significant impacts on alcohol consumption and on the risk for alcoholism in East Asia populations, we explored associations of the two functional SNPs with suicide using a case-control study of 283 completed suicides and 319 control subjects in the Japanese population.

suicide


Input: Previous studies have shown that induction of autoimmune diabetes by adult thymectomy and split dose irradiation of PVG. RT1 (u) rats can be prevented by their reconstitution with peripheral CD4 (+) CD45RC-TCR-alpha/beta + RT6 (+) cells and CD4 (+) CD8 (-) thymocytes from normal syngeneic donors.

autoimmune diabetes


Input: The MDR analysis of multiple SNPs revealed that P-selectin-2441A/G and CD14-159C/T had combined effects on macroscopic hematuria, whereas TGF-β1 509T/C, P-selectin-2441A/G and MCP-1 2518A/G had combined effects on the formation of crescents in IgAN patients.

macroscopic hematuria


Input: We conclude that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1.

Amish nemaline myopathy

Amish nemaline myopathy


Input: A total of 195 samples from HIV-1 patients in a wide range of clinical conditions were analyzed with a 100% success rate, even in patients with suppressed plasma viremia, regardless of CD4 + or therapy.

viremia


Input: PRG1, IL-10, CD68, IL-23a, and IL-12a expression in noncancerous tissue, and PRG1, ANXA1, IL-23a, IL-17a, FOXP3, and HLA-DRA expression in tumor tissues were associated with poor prognosis based on Cox regression (/Z-score/> 1. 5) and were used to generate the inflammatory risk score (IRS).

regression


Input: Betel quid (BQ) chewing is an oral habit that increases the risk of oral cancer and oral submucous fibrosis (OSF), a precancerous condition showing epithelial atrophy and tissue fibrosis.

OSF

fibrosis


Input: To evaluate the severity of atherosclerosis, we measured the coronary artery calcification (CAC) score, intima-media thickness (IMT) of the common carotid artery, and the ankle-brachial pressure index (ABPI).

CAC

coronary artery calcification


Input: We show for the first time that CaV1. 2 knockdown in zebrafish results in classic primary cilia defects including renal cyst formation, hydrocephalus, and left-right asymmetry defects.

CaV1. 2

hydrocephalus


Input: Up-regulation of EGF receptor and its ligands, AREG, EREG, and HB-EGF in oral lichen planus.

EREG

oral lichen planus


Input: For this purpose, we performed a retrospective case-control study to investigate the influence of the procoagulant factor VIII (VIII: C) and the antigen of vWF (vWF: Ag) on the normalized APC-SR (n-APC-SR) and on the risk for VTE, in two selected groups of 30 symptomatic (Group I) and 32 asymptomatic (Group II) related heterozygotes for the factor V Leiden mutation.

VIII

asymptomatic


Input: One form of hereditary long QT (LQT3) has been linked to a mutation in the gene encoding the human heart voltage-gated sodium-channel alpha-subunit (SCN5A on chromosome 3p21).


Input: Slit2/Robo1 signaling promotes intestinal tumorigenesis through Src-mediated activation of the Wnt/β-catenin pathway.

tumorigenesis


Input: Indomethacin produced multiple lesions in glandular mucosa, evidenced by marked increase in gastric ulcer index (GUI) accompanied by significant increases in gastric juice acidity, tissue myeloperoxidase (MPO) activity, serum NO and tissue conjugated diene (CD), and marked decreases in tissue NO and glutathione (GSH) as well as glutathione reductase (GR) and superoxide dismutase (SOD) activities, while gastric juice mucin and tissue glutathione peroxidase (GPx) were not affected.

MPO

gastric ulcer


Input: Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.

best vitelliform macular dystrophy

best vitelliform macular dystrophy


Input: The present study suggests that an IL-1 receptor antagonist effectively attenuates or blocks long-lasting hyperalgesia and microglia activation produced by LPS exposure in the neonatal period of rats.

hyperalgesia

hyperalgesia


Input: Its prevalence was significantly higher in patients with progressive forms of the disease (HCC and liver cirrhosis) than in patients with less severe forms of the disease (chronic hepatitis and carrier) [31. 8% (56/176 patients) vs. 17. 2% (17/99 patients); p = 0. 010].

HCC

chronic hepatitis


Input: Consistent with this, many APS1/APECED patients harbored extremely high-affinity, neutralizing autoantibodies, particularly against specific cytokines.

APECED

APECED


Input: Uroguanylin concentrations are increased in patients with chronic renal failure, nephrotic syndrome, or those on dialysis.

Uroguanylin

chronic renal failure

Uroguanylin

chronic renal failure


Input: To evaluate diagnostic differences and associations between pleural tuberculosis (PLTB), and pulmonary tuberculosis alone (PTB), as well as, pleural and pulmonary co-infection (PLPTB) and PTB.

PTB

co-infection


Input: Arterial media calcification (AMC) is highly prevalent and is a major cause of morbidity, mortality, stroke and amputation in patients with diabetes mellitus (DM).

AMC

diabetes mellitus


Input: Whereas in obese WAT apoptotic macrophages were located around necrotic adipocytes, we demonstrated that CCL5, but not CCL2, protected macrophages from free cholesterol-induced apoptosis via activation of the Akt/Erk pathways.

necrotic


Input: Keratosis Follicularis Spinulosa Decalvans (KFSD) is a rare genetic disorder characterized by development of hyperkeratotic follicular papules on the scalp followed by progressive alopecia of the scalp, eyelashes, and eyebrows.

Keratosis Follicularis Spinulosa Decalvans

KFSD

Keratosis Follicularis Spinulosa Decalvans

KFSD


Input: The objective of this study was to determine the prevalence of BRCA1 and BRCA2 gene mutations in unselected ovarian cancer patients, and to analyse clinical and pathological features of ovarian cancer unclassified variant mutation carriers in comparison with BRCA1 pathogenic mutation carriers and sporadic cases.

BRCA2 gene

sporadic


Input: Maternal HLA-A * 2301 was associated with increased transmission risk before and after adjusting for maternal viral load (unadjusted: odds ratio [OR], 3. 21; 95% confidence interval [CI], 1. 42-7. 27; P =. 005; Pcorr = 0. 04; adjusted: OR, 3. 07; 95% CI, 1. 26-7. 51; P =. 01; Pcorr is not significant).

HLA-A

viral load


Input: To clarify the mechanism underlying this deficiency in UGT1A1 activity in patients with Gilbert' s syndrome.

Gilbert' s syndrome

Gilbert' s syndrome


Input: Downregulation of miR-145-5p in cancer cells & #160; and their & #160; derived exosomes may contribute to & #160; the & #160; development of ovarian cancer by targeting CT.

ovarian cancer

ovarian cancer


Input: These data suggest that genetic variation at the EphB2 locus may increase risk of sporadic PC among AAM.

sporadic


Input: Here, we present a novel therapeutic approach to circumvent clinical resistance to bolus 5-FU, that is, treatment of bolus 5-FU-resistant colorectal cancer cells with low-dose 5-azadeoxycytidine (DAC), an inhibitor of DNA hypermethylation, restored sensitivity to 5-FU as well as 5-fluorouridine.

DAC

clinical resistance


Input: SEMA3E mutation in a patient with CHARGE syndrome.

CHARGE syndrome

CHARGE syndrome


Input: The aim of this study was to investigate the relationship between genetic variants of the adrenergic beta3 receptor (ADRB3) and the G-protein beta3 subunit (GNB3) and clozapine-induced body weight change (BWC).

body weight change


Input: Of these, 140 SNPs indexed differences in HDL-and LDL-cholesterol, triglycerides, C-reactive protein, fibrinogen, factor VII, apolipoproteins AI and B, lipoprotein-associated phospholipase A2, homocysteine or folate, some with large effect sizes and highly significant P-values (e. g.

lipoprotein-associated phospholipase A2

fibrinogen


Input: Mice submitted to unilateral ureteral ligation (UUO) demonstrated an increase in macrophage infiltration with collagen deposition after 7 d. Conversely, TLR2, TLR4 and MyD88 knockout (KO) mice had an improved renal function together with diminished T (H) 2 cytokine production and decreased fibrosis formation.

fibrosis


Input: Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor.

breast cancer

breast cancer


Input: The MLL gene from human chromosome 11q23 is involved in > 30 different chromosomal translocations resulting in a plethora of different MLL fusion proteins.

MLL gene

plethora


Input: Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T--& gt; G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin.

factor X

factor X deficiency

factor X

factor X deficiency


Input: Thus, determinants of demyelination map to the S gene of MHV.

S gene

demyelination


Input: in the early stage of BC diagnosis (ductal carcinoma in situ, TNM I and II) than the CA153 and CEA markers (8. 13 and 7. 32%, respectively).

CEA

ductal carcinoma in situ


Input: The objective of this study was to explore the genetic polymorphisms and serum protein levels of MBL in Chinese pediatric patients with common infectious diseases, including recurrent respiratory infection (RRI), acute respiratory infection (ARI), active cytomegalovirus (CMV) infection, localized abscess, and otitis media.

ARI

cytomegalovirus


Input: Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

chromosome deletion


Input: The decreased cyst size in the Rictor silenced cells was reversed by introduction of a constitutively active Akt1.

cyst


Input: The primary tumors of 55 patients with a sporadic Dukes' C colon cancer, all treated with adjuvant chemotherapy were analyzed for the presence of KRAS and TP53 mutations.

sporadic


Input: Overexpression of DN-Lats2 significantly enhanced cardiac hypertrophy and inhibited cardiac myocyte apoptosis induced by transverse aortic constriction.

cardiac hypertrophy


Input: These studies showed that 6 h after hypoxia-ischemia, galectin 3 and filamin C levels increased to a lesser extent in the bis (-/-) hippocampi compared with the bis (+/+) hippocampi.

filamin C

hypoxia


Input: Our findings suggest that CNR1 gene polymorphism is associated with central obesity in this Brazilian population of European ancestry.

CNR1 gene

central obesity


Input: This study aims to determine the frequency, severity and distribution of PIN1 immunoreactivity and its relationship to NFTs and other neuropathological markers of neurodegeneration such as amyloid-β (Aβ) plaques and transcription-responsive DNA-binding protein of M (r) 43 kDa (TDP-43).

amyloid


Input: The expression of DVL1 and DVL3 proteins was significantly more pronounced in progressive than in non-progressive disease (p < 0. 01), whereas the level of DVL2 was significantly higher in non-progressive as compared to progressive disease (p < 0. 001).

non-progressive


Input: We investigated ALK protein expression, phosphorylation, and genetic aberrations using fluorescence in situ hybridization (FISH) in 81 soft tissue tumor samples: inflammatory myofibroblastic tumor, n = 1; alveolar soft part sarcoma, n = 2; leiomyosarcoma, n = 10; well-differentiated liposarcoma, n = 7; pleomorphic liposarcoma, n = 2; extraskeletal osteosarcoma, n = 1; epithelioid sarcoma, n = 1; synovial sarcoma, n = 4; malignant peripheral nerve sheath tumor, n = 4; undifferentiated pleomorphic sarcoma, n = 19; rhabdomyosarcoma, n = 6; myxofibrosarcoma, n = 8; myxoid liposarcoma, n = 11; fibrosarcoma, n = 4; and desmoid-type fibromatosis, n = 1.

FISH

fibromatosis


Input: Mutations in the PI3K/PTEN/TSC2 pathway contribute to mammalian target of rapamycin activity and increased translation under hypoxic conditions.

mammalian target of rapamycin

hypoxic


Input: Plasma resistin, associated with single nucleotide polymorphism-420, is correlated with insulin resistance, lower HDL cholesterol, and high-sensitivity C-reactive protein in the Japanese general population.

C-reactive protein

insulin resistance


Input: OATP1B3, OATP2A1, OATP3A1 and OATP4A1 are up-regulated in pancreatic adenocarcinoma and could potentially be used to target anticancer drugs to pancreatic cancer.

pancreatic adenocarcinoma


Input: We observed that peripheral nerve injury reduced spinal MKP-1/3 expression and activity and that intrathecal JWH015 reduced established L5 nerve injury-induced allodynia, enhanced spinal MKP-1/3 expression and activity, and reduced the phosphorylated form of p38 and ERK-1/2.

allodynia


Input: The levels of IL-6, IL-2, pSTAT3, pSTAT5, SOCS3, RORc, Foxp3, IL-17A, and TGF-β1 were measured in patients with atopic NP, patients with nonatopic NP, and controls.

atopic


Input: We conclude that HSP60 redistributed from mitochondrion to cytosol in the RVLM confers neuroprotection against fatal cardiovascular depression during endotoxaemia via reduced activation of the cytochrome c-caspase-3 cascade of apoptotic signalling through enhanced interactions with mitochondrial or cytosolic Bax or Bcl-2.

cytochrome c

depression


Input: Oxidized low-density lipoprotein (oxLDL) accumulates early in atherosclerosis and promotes endothelial nuclear factor κB (NF-κB) activation, proinflammatory gene expression and monocyte adhesion.

NF-κB

adhesion


Input: We assessed the association between changes in Ki-67 from diagnostic biopsy to surgical specimen and the following factors: age, body mass index, tumor prognostic and predictive factors, including immunohistochemical molecular subtype, number and size of biopsy specimens, time from biopsy to surgery, circulating insulin-like growth factor-I, sex hormone-binding globulin and hsCRP.

sex hormone-binding globulin

body mass index


Input: The second mode of MAF transcription occurred in myelomas with multiple myeloma SET domain (MMSET) translocation.

MAF

translocation


Input: Alzheimer' s disease (AD) is characterized by amyloid beta (A beta) accumulation in the brain and is classified as familial early-onset (FAD) or sporadic late-onset (SAD).

FAD

sporadic


Input: Initial discovery GWAS detected SNPs within or near genes encoding the ABO blood group specifying transferases A/B (ABO), Fucosyltransferase-2 (FUT2), and Chymotrypsinogen-B2 (CTRB2), to be significantly associated with lipase activity levels in asymptomatic subjects.

ABO

asymptomatic


Input: As an in vivo model for studying human MHC (HLA) class I-restricted CTL responses to viral infection, we established a series of HLA Tg mice expressing HLA-A2,-B7 or-B27 human/mouse hybrid genes on a background deficient for H2 class I (Tg HLA (hyb)/H2 class I DKO).]

viral infection


Input: Molecular genetic studies point to potential risk loci of psychotic depression shared with schizoaffective disorder (1q42, 22q11, 19p13), depression, bipolar disorder, and schizophrenia (6p, 8p22, 10p13-12, 10p14, 13q13-14, 13q32, 18p, 22q11-13) and several vulnerability genes possibly contributing to an increased risk of psychotic symptoms in depression (eg, BDNF, DBH, DTNBP1, DRD2, DRD4, GSK-3beta, MAO-A).

MAO-A

psychotic depression

MAO-A

psychotic depression


Input: To further investigate the frequency and genotype-phenotype correlations of mutations in the POLG gene, we used single-stranded conformational polymorphism analysis and direct sequencing to screen 30 patients with familial or sporadic PEO and multiple mitochondrial DNA deletions in muscle but without mutations in ANT1 and C10orf2.

sporadic


Input: Spp1 is an integrin-binding phosphoglycoprotein upregulated in carcinomas, and Mmps regulate tumour invasion.

carcinomas


Input: We also report recurrent translocations that fuse the coding sequence of EGFR to several partners, with EGFR-SEPT14 being the most frequent functional gene fusion in human glioblastoma.

glioblastoma

glioblastoma


Input: Down-regulation of XAF1 in association with hypermethylation was detected in 3 of 4 human gastric cancer cell lines and 6 of 8 colon cancer cell lines.

colon cancer

colon cancer


Input: Linkage of bipolar disorder and recurrent depression to DRD1 and DRD2 was tested using a series of genetic models with varying penetrance levels.

recurrent depression

recurrent depression


Input: MAD1 was detected in the supranuclear portion of normal epithelial, intestinal metaplasia, and adenoma cells, but its expression was not restricted to any specific area in carcinoma cells.

adenoma


Input: Recently, mutations in the human MMR genes MSH2, MLH1, PMS1 and PMS2 have been implicated in a common form of hereditary colon cancer and in sporadic tumors of various tissues.

sporadic


Input: The cellular composition of clonal fibroids are heterogeneous, with phenotypically dissimilar cells that include smooth muscle cells (SMC), vascular SMC (VSMC) and fibroblasts.

SMC

fibroids


Input: P115 promotes proliferation of gastric cancer cells through an interaction with MIF.

MIF

gastric cancer


Input: GSN overexpression was significantly associated with more aggressive behavior and more cancer deaths and supported our hypothesis that high GSN expression confers chemoresistance in cancer cells by altering the GSN-FLIP-Itch interaction.

FLIP

aggressive behavior


Input: Nox2 activation requires membrane translocation of the p47 (phox) subunit and is linked to heart failure.

translocation


Input: It is phosphorylated by kinases such as ataxia telangiectasia mutated (ATM) and ATM-Rad3-related (ATR) in the PI3K pathway.

telangiectasia


Input: Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

fibroblast growth factor receptor 3

hypochondroplasia

fibroblast growth factor receptor 3

hypochondroplasia


Input: Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.

Fundus albipunctatus

Fundus albipunctatus


Input: Thus, the present report describes a DDD subphenotype in PSENEN mutation carriers that is associated with increased susceptibility to AI.

PSENEN

DDD

PSENEN

DDD


Input: Aberrant RAD9 expression has been linked to breast, lung, thyroid, skin and prostate tumorigenesis, and a cause-effect relationship has been demonstrated for the latter two.

tumorigenesis


Input: SRA880 did not affect seizure severity and did not reverse the anticonvulsive action of SRIF-14 (1 microM) against pilocarpine-induced seizures, suggesting that hippocampal sst (1) receptors are not involved in the anticonvulsive effects of SRIF-14.

seizure

seizure


Input: To analyze the expression of HMOX1 and miR-122 in liver biopsy samples obtained from HCV mono-and HIV/HCV co-infected patients in relation to selected clinical parameters, histological examination and IL-28B polymorphism as well as to determine whether HMOX1 expression is dependent on Bach-1.

mono


Input: In CCR2 +/+ mice, the number and the size of granulomas gradually increased until they reached peak values at 10 days after the injection.

granulomas


Input: Because GPC3 binds with high affinity to Wnts, and its growth-promoting activity requires attachment to the cell membrane, we have hypothesized that a mutated GPC3 lacking the GPI anchoring domain (sGPC3) will block Wnt signaling and inhibit the growth of Wnt-dependent tumors.

GPI

tumors


Input: In mice with liver fibrosis, adiponectin had similar effects and limited focal adhesion kinase phosphorylation.

focal adhesion kinase

liver fibrosis


Input: These results illuminate potential underlying mechanisms of the involvement of the GATA4 gene in the etiology of alcohol dependence via its influence on ANP and amygdala processing.

ANP

alcohol dependence


Input: Levels of DNAJB6 were knocked down in ESCC cell lines (KYSE450 and T. Tn), immortalized normal esophageal epithelial cell lines (NE3 and NE083), and other cells with short hairpin RNAs, or by genome engineering.

esophageal


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

foot deformities


Input: The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent hyperuricemia, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and renal failure.

FJHN

familial juvenile hyperuricemic nephropathy

FJHN

familial juvenile hyperuricemic nephropathy


Input: CDC25B protein expression scores in subjects with esophageal biopsies diagnosed as normal (n = 35), dysplastic (n = 23), or ESCC (n = 32) increased significantly with morphologic progression.

esophageal


Input: Ectopic expression of phosphorylation-insensitive T200A or T280A mutant Nanog reduced cell proliferation, colony formation, invasion, migration and the CIC population in head and neck squamous cell carcinoma (HNSCC) cells.

CIC

head and neck squamous cell carcinoma


Input: All subjects required chronic, full-time mechanical ventilation because of respiratory failure that was unresponsive to both ERT and preoperative muscle-conditioning exercises.

ERT

respiratory failure


Input: Several previously unidentified disease marker genes and drug targets, such as SBNO2 (schizophrenia), SEC24C (bipolar disorder), and SRRT (major depression), were identified based on statistical and topological analyses of the PPI network.

major depression

major depression


Input: The aims of the present study are to investigate genetic alteration in the BGP foci and to characterize them in the' de novo' carcinogenesis.

BGP

carcinogenesis


Input: To provide additional data for genotype-phenotype analyses and to determine the proportion of mutations in the type I collagen genes among subjects with lethal forms of OI, we sequenced the coding and exon-flanking regions of COL1A1 and COL1A2 in a cohort of 63 subjects with OI type II, the perinatal lethal form of the disease.

OI type II

OI type II


Input: TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

spinocerebellar ataxia 21

spinocerebellar ataxia 21


Input: These data indicate that adrenomedullin acting via ADMR increases the aggressiveness of pancreatic cancer cells and suggests that these molecules may be useful therapeutic targets.

ADMR

aggressiveness


Input: Clinical features and pathologic findings of the late-onset form of LCD with an L527R mutation in the TGFBI gene were made clear.

TGFBI

LCD

TGFBI

LCD


Input: More than 60 single point or deletion mutations of human TBX5 are associated with Holt-Oram syndrome that manifests itself as heart and limb malformations in 1 out of 100, 000 live births.

Holt-Oram syndrome

Holt-Oram syndrome


Input: Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

KRAS

Noonan syndrome

KRAS

Noonan syndrome


Input: Animals treated with IGF-I also gained weight compared to controls, but this weight gain was less than that seen in GH-treated rats.

IGF-I

weight


Input: However, when chronic MR activation was induced by aldosterone-salt-uninephrectomy, cardiac hypertrophy was similar between control littermates and DN-EGFR.

EGFR

cardiac hypertrophy


Input: In hepatolithiasis, EMT-related proteins were more highly expressed in small bile ducts than in medium or large bile ducts.

EMT

hepatolithiasis


Input: Though FAD is rare (< 10% of all AD), the hallmark features (amyloid plaques, neurofibrillary tangles, synaptic and neuronal loss, neurotransmitter deficits and dementia) are indistinguishable when FAD is compared with typical, common,' non-familial', or sporadic, AD (SAD).

FAD

sporadic


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: The methylation of the genes Ade-nomatous polyposis coli (APC), glycogen synthase kinase-beta-3 (GSK3beta) and eyes absent 4 (EYA4) was analyzed in 12 colon cancer and 12 normal tissues.

polyposis coli


Input: Copy number aberration, translocation and point mutation of FAT1, FAT2, FAT3, FAT4, FRMD1, FRMD6, NF2, WWC1, WWC2, SAV1, STK3, STK4, MOB1A, MOB1B, LATS1, LATS2, YAP1 and WWTR1/TAZ genes should be comprehensively investigated in various types of human cancers to elucidate the mutation landscape of the FAT‑Hippo signaling cascades.

translocation


Input: Additionally, repletion of TNF-α (-/-) mice with TNF-α (+/+) CD8 (+) T cells significantly enhanced the incidence of hydrosalpinx and oviduct dilatation compared to those of TNF-α (-/-) mice but not to the levels found in wild-type mice, suggesting that TNF-α production from CD8 (+) T cells and non-CD8 (+) cells cooperates to induce optimal oviduct pathology following genital chlamydial infection.

dilatation


Input: Increasing evidence indicates that in gastric epithelial cells, induction of TFF3 by hypoxia is mediated by HIF-1.

hypoxia


Input: Vascular endothelial growth factor (VEGF) is thought to be involved in the pathophysiology of mood disorders and the target of antidepressants.

Vascular endothelial growth factor

mood disorders

Vascular endothelial growth factor

mood disorders


Input: Currently, the underlying pathophysiology of this inherited secondary NDI is unclear, but there appears to be true AQP2 deficiency.

secondary


Input: A statistically significant difference in the allelic distribution of G-Asn/G-Ser and G-Ser/G-Ser genotype between proven fathers and infertile men but there were not any statistically significant difference in the overall frequency of the four FSHR haplotypes.

FSHR

infertile


Input: The experience in this case suggests that brain imaging is important in managing postoperative confusion, and any patient with diffuse leukoencephalopathy of unknown etiology may need to be tested for NOTCH3 mutations.

diffuse leukoencephalopathy


Input: This result suggests that smoking may induce inflammation measured as TNF-alpha level or WBC count and combinations of the GSTM1 and GSTP1 polymorphisms may modify the effect of smoking on serum TNF-alpha level.

TNF-alpha

smoking


Input: Effect of atorvastatin on circulating proinflammatory T-lymphocyte subsets and soluble CD40 ligand in patients with stable coronary artery disease--a randomized, placebo-controlled study.

CD40 ligand

coronary artery disease

CD40 ligand

coronary artery disease


Input: ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

ATRX

ATR-X syndrome

ATRX

ATR-X syndrome


Input: We have carried out a study on BRCA1 and BRCA2 along with p53 gene mutations in both sporadic as well as familial breast cancer patients from India where breast cancer is fast emerging as a major cancer among premenopausal urban women.

p53 gene

sporadic


Input: We investigated the association of the lymphotoxin (LT)-α gene polymorphism + 249A/G with type 1 diabetes.

α gene

type 1 diabetes


Input: The identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development.

SEN syndrome

SEN syndrome


Input: METHODS: Immunohistochemistry and immunoblotting were used to assess NRP2 expression levels in colorectal tumors and colorectal cancer cell lines, respectively.

colorectal tumors


Input: In HT29 human colon cancer cells, Nox1 knockdown induced G1 cell cycle arrest, whereas in Caco-2 cells there was a strong apoptotic response, with increased levels of cleaved caspase-3,-6,-7 and poly (ADP-ribose) polymerase.

colon cancer

colon cancer


Input: The results suggest that MLCK has a crucial role in the pathogenesis of ALI.

MLCK

ALI

MLCK

ALI


Input: Taken together, these data suggest that the OXT system is a novel neuroendocrine mediator in human skin homoeostasis and clinically relevant to stressed skin conditions like AD.

OXT

skin conditions


Input: Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies (EIEE13).


Input: This is the first study to show that ATF6 is activated by ischemia but inactivated upon reperfusion, suggesting that it may play a role in the induction of ER stress response genes during ischemia that could have a preconditioning effect on cell survival during reperfusion.

ischemia


Input: These results suggest that EXP1 and/or EXP2/Cyclin D1 may play an important role in the progression of human esophageal carcinomas.

Cyclin D1

esophageal


Input: While PIAS1 and PIAS3 enhance the transcriptional activity of AR, PIASy acts as a potent inhibitor of AR in prostate cancer cells.

PIASy

prostate cancer


Input: RAD50-IL13 region has been recently identified as one of critical asthma susceptibility loci in genome-wide association studies, yet the role of these genetic variants or single-nucleotide polymorphisms (SNPs) in the risk of developing asthma in Northeastern Han Chinese remains largely unknown.

asthma susceptibility


Input: Polymorphisms in the 5'-flanking region of the tumor necrosis factor (TNF)-alpha gene were examined to study the genetic background of type 1 diabetes in Japanese.

alpha gene

type 1 diabetes


Input: Our study raises to 12 the number of SACS mutations detected in ARSACS patients with origins around the Mediterranean basin.

SACS

ARSACS

SACS

ARSACS


Input: In addition, ZJE treatment significantly decreased the reactive gliosis of astrocytes and microglia in the CA1 region compared to that in the vehicle-treated group 4 days after ischemia/reperfusion.

ischemia


Input: The large majority of NSD1 abnormalities occur de novo and there are very few familial cases.

abnormalities


Input: Our finding provides evidence that apigenin sensitizes BEL-7402/ADM cells to doxorubicin through miR-520b/ATG7 pathway, which furtherly supports apigenin as a potential chemo-sensitizer for hepatocellular carcinoma.

hepatocellular carcinoma

hepatocellular carcinoma


Input: Although production of IFN-gamma was increased in IL-4/IL-10 double-knockout mice, depletion of gamma interferon did not affect worm elimination, so it seems unlikely to be the major factor in mediating resistance in IL-4/IL-10 KO mice.

IFN

worm


Input: We concluded that deficiency of nonglobin EKLF target genes is a major contributor to the definitive red blood cell abnormalities and prenatal death in EKLF (-/-) embryos.

EKLF

abnormalities


Input: In a small set of breast tumor samples, no elevations in hyal-1, hyal-2 or LUCA3 mRNA were seen.

breast tumor


Input: Angioplasty in acute myocardial infarction after low-dose alteplase and abciximab in transferred patients. A comparison with primary angioplasty on site.

alteplase

myocardial infarction

alteplase

myocardial infarction


Input: While aberrant bone development was mild in the original ATR-SS patient, some of the patients described here display skeletal abnormalities including, in one patient, small patellae, a feature characteristically observed in Meier-Gorlin Syndrome.

ATR

mild


Input: Both FOXE1 and NKX2-1 were associated with the increased risk of sporadic Japanese PTC.

sporadic


Input: These results suggest that 1) ANG-(1-7) increased ANP secretion at high atrial pacing via the Mas/PI3K/Akt pathway and the activation of Na (+)/H (+) exchanger-1 and CaMKII and 2) ANG-(1-7) decreased cardiac hypertrophy which might be mediated by ANP.

ANG

cardiac hypertrophy


Input: To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics of mesenchymal tumors of gastrointestinal tract (GIT), 11 cases of KIT/PDGFRA wt GISTs, 12 gastric schwannomas (GSs), 20 solitary fibrous tumors (SFTs), 4 leiomyomas (LMs), 16 leiomyosarcomas (LMSs), 5 synovial sarcomas (SSs), 3 endometrioid stromal sarcomas (ESSs), and 1 ileal inflammatory myofibroblastic tumor (IMT) were investigated for SDHB immunoexpression together with molecular genetic analysis of genes encoding succinate dehydrogenase (SDH).

GIT

solitary fibrous tumors


Input: In addition, CETP expression did not normalize other characteristics of SR-BI deficiency, including female infertility, reticulocytosis, thrombocytopenia, and impaired platelet aggregation.

CETP

thrombocytopenia


Input: Here we report that SLC1A1 mutations leading to substitution of arginine to tryptophan at position 445 (R445W) and deletion of isoleucine at position 395 (I395del) cause human dicarboxylic aminoaciduria, an autosomal recessive disorder of urinary glutamate and aspartate transport that can be associated with mental retardation.

dicarboxylic aminoaciduria

dicarboxylic aminoaciduria


Input: This study demonstrates that a reciprocal relationship exists between p53 and BAX in sporadic colorectal cancers, and further supports the hypothesis that MSI-low tumors are biologically similar to MSI-null tumors.

sporadic


Input: Phosphorylation of the alpha subunit of translation initiation factor-2 by PKR mediates protein synthesis inhibition in the mouse brain during status epilepticus.

PKR

status epilepticus

PKR

status epilepticus


Input: The results showed that single Smad7 or uPA adenovirus reduced CCL4 induced liver fibrosis significantly; while combination of Smad7 and uPA had more significant therapeutic effect on CCl4 induced liver fibrosis.

adenovirus


Input: The relative abundances of HINT1, MDH1, and SERPINI1 mRNA in the DLPFC in individuals with schizophrenia and controls were measured by real-time quantitative polymerase chain reaction (Q-PCR) and for HINT1 expression by in situ hybridization.

schizophrenia

schizophrenia


Input: In summary, the data from this study indicate that increased Cu transportation due to upregulated CTR1 and ATP7A in pulmonary arteries and PASMC contributes to the development of hypoxia-induced pulmonary hypertension.

pulmonary hypertension

pulmonary hypertension


Input: XRCC5, PTCH2, eEF1A2 and PPP1R14B were significantly overexpressed in OCCC and associated endometriosis, but not in benign endometriosis (p ⩽ 0. 004).

endometriosis


Input: Several lines of evidence support our hypothesis; higher value of IL-6 was recorded in children with idiopathic osteoporosis than in healthy controls; TNF-alpha knock-out mice do not lose bone after ovariectomy; polymorphism of TNFRSF1B gene which encodes 75 Kd TNF receptor is associated with BMD; treatment with anti-TNF-alpha antibody exert beneficial effect on bone metabolism in patients with rheumatoid arthritis and finally, raloxifene inhibit osteoclast activity by reducing TNF-alpha and IL-6 synthesis.

idiopathic osteoporosis


Input: The actions of GLP-1 on β-cells and the nervous and digestive systems are well known.

nervous


Input: Proteinase changes may result from abnormalities of growth factors, such as HGF and FGF-3, in DR corneas.

HGF

abnormalities


Input: Blocking interaction of TNFalpha with its receptor by the addition of excess TNFalpha-binding protein (TBP)-1 (a soluble form of TNF receptor-1) was effective in animal models of endometriosis.

TBP

endometriosis


Input: Double-hit or triple-hit B-cell lymphomas (DHL and THL) are rare subtype lymphomas usually associated with poor prognosis.

THL

hit


Input: Tissue fibrosis results when dysregulation of extracellular matrix (ECM) turnover favors deposition of collagen and other ECM proteins over degradation.

ECM

fibrosis


Input: Taken together, these data suggest that MBD4 inactivation may contribute to tumorigenesis, acting as a modifier of MMR-deficient cancer phenotype.

MMR

tumorigenesis


Input: In case of mEPHX, R139R imposed a risk factor for HCC with both control (OR = 1. 81) and chronic hepatitis-infected (OR = 2. 06) subjects.

HCC

chronic hepatitis


Input: Only proteinuric mice exhibited histologic features consistent with human ACTN4-associated FSGS, including segmental sclerosis and tuft adhesion of some glomeruli, tubular dilatation, mesangial matrix expansion, as well as regions of podocyte vacuolization and foot process fusion.

sclerosis


Input: The NAT2 fast acetylator and EPHX1 low-activity genotypes were positively associated with MM in the Italian study, while they were negatively associated with this malignancy in the Finnish one.

MM

MM


Input: The focus of this study was the PG versican, which presumably defines keloid volume because of its ability to retain large amounts of water through its component glycosaminoglycans (GAGs).

versican

keloid


Input: Rosiglitazone treatment restored basal and agonist-induced coupling of D (1A) receptors to G (s) proteins and reduced basal serine phosphorylation of D (1A) receptors, GRK4 expression, and translocation of GRK2 to the plasma membrane in proximal tubules of OZRs.

translocation


Input: A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma.

keratin 9

epidermolytic palmoplantar keratoderma

keratin 9

epidermolytic palmoplantar keratoderma


Input: Total RNA was isolated from 118 tissue specimens from benign prostate hyperplasia (BPH) and CaP patients and a highly sensitive quantitative real-time RT-PCR (qRT-PCR) method for DDC mRNA quantification has been developed using the SYBR Green chemistry.

DDC

benign prostate hyperplasia


Input: We further showed that hyperglycemia promoted the perineural invasion (PNI) of PanCa in vivo.

PNI

hyperglycemia


Input: Adenosine A2A receptor deficient mice are partially resistant to limbic seizures.

Adenosine A2A receptor

seizures

Adenosine A2A receptor

seizures


Input: RAD51, genomic stability, and tumorigenesis.

tumorigenesis


Input: This was shown to be due to the induction of a phenotype analogous to mild I-cell disease in cells expressing large amounts of IDUA.

IDUA

mild


Input: We therefore examined whether polymorphisms in DNA base-excision repair (BER) genes, XRCC1 G399A and OGG1 C326G, were associated with CCA risk and whether they modified the effect of smoking and alcohol drinking in the Thai population.

smoking


Input: Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24. 3-q25. 2), a mutation known to be associated with glaucoma in India.

MYOC

congenital microcoria


Input: Linear regression analysis identified a direct proportional relationship between PLK/PNPO immunoreactivity and normalized population spike amplitude ratio in the dentate gyrus and the CA1 region as excluded the data obtained from 4 weeks after SE.

PNPO

SE

PNPO

SE


Input: The expression level of RhoC is correlated to clinical stage and vascularization in ovarian cancer.

RhoC

vascularization


Input: We performed extensive molecular characterization of 21 cases of formalin-fixed, paraffin-embedded sporadic SCAs consisting in genome-wide allelic loss analysis with 79 microsatellite markers covering all 22 autosomes, assessment of microsatellite instability, and mutational analysis of the VHL, K-ras, and p53 genes in nine cases for which frozen tissue was available.

p53 genes

sporadic


Input: The kinetics of dissociation parallels HER3 dephosphorylation and uncoupling from PI3K activity, leading to downregulation of proximal and distal AKT signaling, and correlates with the antiproliferative effects of trastuzumab.

dissociation


Input: IL-4 preferentially colocalized to the tryptase +-chymase + mast cell phenotype (MC (TC)) with MC (TC) cells comprising 93. 3% of cytokine + mast cells in symptomatic SAC (P = 0. 0017), 89. 2% in asymptomatic SAC (P = 0. 0008), and 77. 8% in normal subjects (P = 0. 0472).

asymptomatic


Input: These findings suggest that VEGF may play an important role in keloid formation by altering ECM homeostasis toward a state of impaired degradation and excessive accumulation.

VEGF

keloid formation


Input: In striking contrast to the human syndrome, TTD mice manifest a dear susceptibility to UV-and 7, 12-dimethylbenz [a] anthracene-induced skin carcinogenesis, albeit not as pronounced as the totally NER-deficient XPA mice.

XPA

skin carcinogenesis


Input: SRF, MYC, E2F1, CREB1, LEF1, TCF7, HNF1B/HNF1A and HNF4A), our data suggest that epithelial dedifferentiation accompanied by aberrant activation and cross-talk of specific signaling pathways may be required for PKD1 cyst growth and disease progression.

cyst


Input: Taken together, our results demonstrate that AM acts as a pain-inducing peptide in the dorsal horn.

AM

pain

AM

pain


Input: Occludin, ZO-1, JAM-1, and claudin-1,-3,-4, and-14, but not claudin-7, mRNAs were decreased in recurrent tonsillitis compared with those of tonsillar hypertrophy.

tonsillar hypertrophy


Input: In this study, BPI-ANCA were demonstrated most often in patients with ulcerative colitis (36/92, 39%), Crohn' s disease (17/66, 26%) and cystic fibrosis (11/14, 79%), but also in patients with rheumatoid arthritis (8/40, 20%), systemic lupus erythematosus (SLE) (111/65, 17%) and mixed connective tissue disease (4/18, 22%).

BPI

mixed connective tissue disease


Input: We conclude that TRPC1 and TRPC6 channels cooperate with TRPV4 channels to mediate mechanical hyperalgesia and primary afferent nociceptor sensitization, although they may have distinctive roles.

mechanical hyperalgesia


Input: Here, we evaluated, for the first time, the feasibility and clinical significances of circulating serum lncRNA RP11-445H22. 4 as biomarker for the detection of breast cancer (BC).

RP11-445H22. 4

breast cancer


Input: Primers covering the complete myosin VIIA coding sequence as well as the 3' non coding sequence were designed, allowing direct sequence analysis of each of the 48 coding exons and flanking splice sites in seven patients affected by USH1.

myosin VIIA

myosin VIIA


Input: Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium.

sporadic


Input: However, no contribution of the 5-HTR2a polymorphism on the bipolar disorder or on the HA personality trait emerged.

personality trait


Input: Here we report the first mutation (G2950A) in exon 24 of the neonatal region of the FBN1 gene, associated with a classic MfS phenotype.

MfS

MfS


Input: Another novel mechanism, which we propose in this review article, is that PSP94 may protect against prostate cancer by preventing or limiting an intracellular fungal infection in the prostate.

fungal infection


Input: There were no dimensional associations between the GIT1 genotypes and both hyperactivity and/impulsivity, and only hyperactivity Swanson, Nolan and Pelham Scale-Version IV (SNAP-IV) scores (P = 0. 609 and P = 0. 247, respectively).

impulsivity


Input: ANG II infusion resulted in higher mean arterial pressure and cardiac hypertrophy as indicated by increased whole heart weight/body weight ratio, whole heart weight/tibia length ratio, left ventricular weight/tibia length ratio, and mRNA expressions of cardiac atrial natriuretic peptide and beta-myosin heavy chain.

ANG

cardiac hypertrophy


Input: Tay-Sachs disease mutations in HEXA target the & #945; chain of hexosaminidase A to endoplasmic reticulum-associated degradation.

HEXA

Tay-Sachs disease

HEXA

Tay-Sachs disease


Input: The objective of this study was to test the hypothesis that ex vivo methyl 2-cyano-3, 12-dioxoolean-1, 9-dien-28-oate (CDDO-Me) activates NRF2-regulated antioxidant genes in white blood cells from patients with septic shock and protects against LPS-induced inflammation and reactive oxidative species production.

septic shock


Input: As a consequence, PTX3 prevents the binding of FGF8b to its receptors, inhibits FGF8b-driven ERK1/2 activation, cell proliferation, and chemotaxis in endothelial cells, and suppresses FGF8b-induced neovascularization in vivo.

neovascularization


Input: We further demonstrate, using the chronic model of TSLP-mediated airway inflammation, that blockade of both IL-4 and IL-13 responses, through administration of an anti-IL-4R alpha mAb, reversed asthma-like symptoms, when given to mice with established disease.

inflammation


Input: Injections of human TNF-α (hTNF), an agonist of mouse TNFR1, stimulated bone resorption lacunae on the calvariae in WT mice, but mouse TNF-α (mTNF), an agonist of both mouse TNFR1 and TNFR2, could not.

bone resorption


Input: A multiplicative interaction between NAT2 intermediate or slow genotype and pack-years of smoking was found (P < 0. 001), but GSTM1 null genotype was not (P = 0. 06).

smoking


Input: Most importantly, the delivery of a single dose of C-CAM adenovirus was able to repress the growth of PC-3-induced tumors in nude mice for at least 3 weeks.

adenovirus


Input: Furthermore, the existence of apparently asymptomatic carriers of mutations in the insulin receptor gene, such as the father in the present study, suggests that the prevalence of mutations in the insulin receptor gene may be higher than would be predicted on the basis of the observed prevalence of patients with extreme insulin resistance.

insulin receptor gene

asymptomatic


Input: We have therefore explored the influence of lack of both bradykinin receptors (B1R and B2R) on diabetic nephropathy, neuropathy, and osteopathy in male mice heterozygous for the Akita diabetogenic mutation in the insulin 2 gene (Ins2).

neuropathy


Input: Bilateral infusions of neurotensin into the globus pallidus reversed haloperidol-induced parkinsonian catalepsy in rats.

neurotensin

catalepsy

neurotensin

catalepsy


Input: Large granular lymphocyte (LGL) leukemia is a chronic lymphoproliferative disease in which T-bet [T-box transcription factor 21 gene (tbx21)] overexpression may play a pathogenic role.

transcription factor 21 gene

leukemia


Input: Catalase activity in cerebellum, hippocampus, frontal cortex and striatum after status epilepticus induced by pilocarpine in Wistar rats.

Catalase

status epilepticus

Catalase

status epilepticus


Input: Several structural mutations of UGT1A1, for example, a G71R substitution, have been reported to cause mild reduction of UGT activity toward bilirubin, resulting in mild hyperbilirubinemia, consistent with Gilbert syndrome.

Gilbert syndrome

Gilbert syndrome


Input: Activating calcium sensing receptor (CaSR) mutations cause autosomal dominant hypocalcemia (ADH) characterized by low serum calcium, inappropriately low PTH and relative hypercalciuria.

ADH

hypercalciuria


Input: In this randomized, double-blind, placebo-controlled study the safety, tolerability, and clinical response of guselkumab, an anti-IL-23-specific mAb, were evaluated in patients with moderate-to-severe plaque psoriasis.

blind


Input: Slc23a1 (-/-) mice died within a few minutes of birth with respiratory failure and intraparenchymal brain hemorrhage.

respiratory failure

respiratory failure


Input: These data suggest that one SNP of the PPARG genotype accounted for a significant portion of the total body weight reduction variance in response to a short-term intervention consisting of calorie restriction; however, no relationship was found between these SNPs and the changes in CHD risk factors which accompanied weight loss.

PPARG

weight loss


Input: In conclusion, we showed that ATGL knockdown increased monocyte adhesion to the endothelium through enhanced TNFα-induced ICAM-1 expression via activation of NFκB and PKC.

NFκB

adhesion


Input: We sequenced & #8764; 6. 9 kb MIR137/MIR2682 and upstream regulatory sequences in 2, 610 SZ cases and 2, 611 controls of European ancestry.

SZ

SZ


Input: The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.

CFTR

cystic fibrosis

CFTR

cystic fibrosis


Input: Although no significant differences in systolic blood pressure (SBP), diastolic blood pressure (DBP), fasting glucose and UAE were observed among genotypes at the initial examination, during the 3 years of antihypertensive treatment the slope values for the DBP, fasting glucose and UAE differed significantly despite no differences in the distribution of treatments being present.

DBP

systolic blood pressure


Input: The aim of the study is to investigate whether the presence of a protein Z polymorphism is a risk factor for the development and outcome of sepsis.

protein Z

sepsis


Input: We investigated the localization of pituitary homeo box 1 (Ptx1) protein in five human non-neoplastic pituitaries and 73 of all types of pituitary adenomas using immunohistochemistry, and the expression of Ptx1 messenger RNA (mRNA) in 18 representative pituitary adenomas using the reverse transcriptase polymerase chain reaction (RT-PCR) technique.

homeo box 1

non-neoplastic


Input: STUDY DESIGN: We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women.

CHDH

infertile


Input: This work help us to understand the effect of NF-κB on specific target molecules of podocytes, and suggest that targeting the NF-κB-UCH-L1 interaction could be a novel therapeutic strategy for the treatment of podocyte lesions and proteinuria.

NF-κB

proteinuria


Input: An EGFR-associated gene expression signature was identified in the basal-like SUM102 cell line and was used to classify a diverse set of sporadic breast tumors.

EGFR

sporadic


Input: The plasma proMBP level was significantly higher in patients with SM with eosinophilia (p < 0. 001), IE (p < 0. 001) and MPN with eosinophilia (p = 0. 002) than in healthy controls.

proMBP

eosinophilia


Input: The CETP mediates catabolism of HDL cholesteryl esters, with secondary decreases in HDL size and protein content.

CETP

secondary


Input: In the present study, we show that each of these transcription factors is robustly expressed in adult dopamine neurons in human midbrain, and that cocaine abuse is associated with a significant decrease in the abundance of Nurr1 and Pitx3 in these cells.

cocaine abuse

cocaine abuse


Input: Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.

congenital chloride diarrhea

congenital chloride diarrhea


Input: An elevated risk of gastric cancer was observed in patients with H. pylori infection, smoking, or alcohol consumption, and together with the GSTP1 Ile/Val + Val/Val genotype (OR = 3. 696; 95% CI = 2. 475-5. 521; OR = 1. 638; 95% CI = 1. 044-2. 571; OR = 1. 641; 95% CI = 0. 983-2. 739, respectively) (p < 0. 05).

alcohol consumption


Input: Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.

BPES

BPES


Input: These results indicate that the effect of MSR-A deficiency on atherogenesis may depend on the presence or absence of apo E.

MSR

atherogenesis


Input: Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.

juvenile polyposis of infancy

juvenile polyposis of infancy


Input: The microarray-based expression of QKI was evaluated in cortical and subcortical brain regions from suicide victims with a diagnosis of major depression (n = 16) and control subjects (n = 13).

QKI

major depression

QKI

major depression


Input: The results for smoking were consistent with an inactivation role for NAT2 in breast cancer.

smoking


Input: Chronic inflammatory airway diseases like asthma and chronic obstructive pulmonary disease (COPD) are characterized by airway remodeling with altered extracellular matrix (ECM) deposition.

ECM

airway remodeling


Input: Compared with that of chronic cervicitis (CC), hyperplasia of mammary glands (HMG), ovarian benign lesions (OBL) and endometrium benign lesions (EBL), the expression of hiwi, Ang-2 and Tie-2 was increased significantly in uterine cervical cancer (UCC), breast carcinoma (BC), ovarian cancer (OC) and endometrial cancer (EC) (P < 0. 01).

hiwi

chronic cervicitis


Input: The authors demonstrated that RIZ1 expression is lost in thyroid tumor cell lines and is also significantly reduced in thyroid carcinomas, when compared with normal thyroid tissues (P & lt;. 0001) and benign tumors (P =. 0003).

thyroid carcinomas

thyroid carcinomas


Input: Thus, preserved stimulation of proximal tubule transport through the insulin/IRS2/PI3-K pathway may play an important role in the pathogenesis of hypertension associated with metabolic syndrome.

metabolic syndrome


Input: MS analysis of protein-phosphotyrosine in multiple myeloma cells revealed a prevalent phosphorylated motif, D/EYYR/K, derived from the kinase domain activation loops of tyrosine kinases including FGFR3 corresponding to a recognition sequence of protein-tyrosine phosphatase PTPN1.

multiple myeloma


Input: We characterized high-grade serous ovarian carcinoma (HGSC) for the association of amplified and overexpressed genes with clinical outcome using gene expression data from 499 HGSC patients in the Ovarian Tumor Tissue Analysis cohort for 11 copy number amplified genes: ATP13A4, BMP8B, CACNA1C, CCNE1, DYRK1B, GAB2, PAK4, RAD21, TPX2, ZFP36, and URI.

ovarian carcinoma


Input: RhoE expression was elevated in gastric cancer tissues as compared with normal gastric tissues.

RhoE

gastric cancer


Input: The endogenous opioid beta-endorphin is a known indicator of stress and pain.

beta-endorphin

pain

beta-endorphin

pain


Input: Our findings emphasize that congenital short bowel syndrome can be the presenting symptom in male patients with mutations in FLNA.

FLNA

congenital short bowel syndrome

FLNA

congenital short bowel syndrome


Input: The results showed that malignant mesenchymal chondroblasts exhibit stronger expressions of CD99, IL-1alpha, cPKC-alpha, p-PKC-alpha/betaII, PDGFR-alpha, p-JNK, Ki-67, and bcl-2 antigens than their more mature-appearing chondrocytic counterparts in MC.

MC

MC


Input: CCSST is typified by a chromosomal t (12; 22) (q13; q12) translocation resulting in a fusion between the Ewing sarcoma gene (EWSR1) and activating transcription factor 1 (ATF1), of which the activity in nontransformed cells is regulated by cyclic AMP.

translocation


Input: We examined the complete structure of the EFHC1 transcript from 480 JME patients and 700 control chromosomes by direct sequencing.

JME

JME


Input: Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor.

growth hormone receptor

Laron syndrome

growth hormone receptor

Laron syndrome


Input: Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.

acid cholesteryl ester hydrolase

Wolman disease

acid cholesteryl ester hydrolase

Wolman disease


Input: The common genes up-regulated by Y15 included GADD45A, HSPA6 (heat-shock 70); DUSP1, DUSP 5 (dual-phosphatase 5); CDKN1A (p21) and common down-regulated genes included kinesins, such as KIF11, 14, 20A, 20B; topoisomerase II, TOP2A; cyclin F; cell cycle protein: BUB1; PARP1, POLA1.

shock


Input: We previously demonstrated that midkine-deficient (Mdk (-/-)) mice exhibited a delayed hippocampal development with impaired working memory and increased anxiety only at the age of 4 weeks.

midkine

anxiety

midkine

anxiety


Input: In addition, TASK-2 immunoreactivity is gradually increased in perivascular regions following SE.

SE

SE


Input: Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.

ribosomal protein L21

hereditary hypotrichosis simplex

ribosomal protein L21

hereditary hypotrichosis simplex


Input: In the present study, the expression of TFF1 was analysed in 18 human MTCs, comprising sporadic and familial tumours, C-cell hyperplasia, and one case of lymph gland metastasis.

sporadic


Input: Sp1 expression is disrupted in schizophrenia; a possible mechanism for the abnormal expression of mitochondrial complex I genes, NDUFV1 and NDUFV2.

schizophrenia

schizophrenia


Input: Results from this preliminary study suggest that the expression of ApoER2 may serve as a trait marker for major depressive disorder.

major depressive disorder

major depressive disorder


Input: Absence of CYP1A2 resulted in significant splenic atrophy at PND13 and PND28.

atrophy

atrophy


Input: The activation of K-ras gene and expression of annexin A1 play an important role in colorectal tumorigenesis.

annexin A1

tumorigenesis


Input: This study examined the association between the number of circulating endothelial progenitor cells (EPCs), intratumoral microvessel density (MVD) (both of which may be markers for neovascularization), and lung cancer histological types, particularly adenocarcinoma histological subtypes.

MVD

lung cancer


Input: As a mutation hotspot, the c. 713A & gt; G/714T & gt; C dinucleotide substitution was found among 89. 1% patients with GAS8-AS1 mutations and associated with advanced PTC disease (P = 0. 009).

PTC

PTC


Input: Protein expression profiles of the CXC chemokines growth-related oncogene alpha (GRO-alpha/CXCL1), epithelial cell-derived neutrophil-activating peptide-78 (ENA-78/CXCL5), granulocyte chemoattractant protein-2 (GCP-2/CXCL6), neutrophil-activating protein-2 (NAP-2/CXCL7), and interleukin-8 (IL-8/CXCL8) were assessed by enzyme-linked immunosorbent assay in pancreatic carcinoma, cancer of the papilla of Vater, pancreatic cystadenoma, and chronic pancreatitis specimens.

pancreatic cystadenoma


Input: Increased expression of seprase, a membrane-type serine protease, is associated with lymph node metastasis in human colorectal cancer.

seprase

lymph node metastasis


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: We examined associations between common germline genetic variation in 13 genes involved in cell cycle control (CCND1, CCND2, CCND3, CCNE1, CDK2 [p33], CDK4, CDK6, CDKN1A [p21, Cip1], CDKN1B [p27, Kip1], CDKN2A [p16], CDKN2B [p15], CDKN2C [p18], and CDKN2D [p19]) and survival among women diagnosed with invasive breast cancer participating in the SEARCH (Studies of Epidemiology and Risk factors in Cancer Heredity) breast cancer study.

invasive breast cancer


Input: Over 70 different missense mutations, including a dominant mutation, in RPE65 retinoid isomerase are associated with distinct forms of retinal degeneration; however, the disease mechanisms for most of these mutations have not been studied.

retinal degeneration

retinal degeneration


Input: Susceptibility to hard metal lung disease is strongly associated with the presence of glutamate 69 in HLA-DP beta chain.

HLA-DP

lung disease


Input: We assessed its frequency of expression in melanoma, carcinoma, benign nevi, and non-neoplastic tissues with routine immunohistochemistry for SOX10.

nevi


Input: Because the influence of genetic variation of HGF has not been examined, we identified single nucleotide polymorphisms (SNPs) in the HGF gene, and investigated the association between these SNPs and blood pressure or carotid atherosclerosis in the Japanese general population.

HGF gene

blood pressure


Input: Our study provides evidence for a pro-survival function of the ID2/ID3 proteins in chronic lymphocytic leukemia cells and also highlights these proteins as potential determinants of the pathobiology of this disorder.

chronic lymphocytic leukemia


Input: Combination of TetON-TRAIL and KD3-IFN produced superior antitumor activity in vivo as compared with either vector alone demonstrating the efficacy of a four-pronged cancer gene therapy approach, which includes Ad oncolysis, ADP overexpression, IFN-alpha-mediated immunotherapy, and pharmacologically controlled TRAIL activity.

ADP

oncolysis


Input: We have now identified point mutations in the TIMP3 gene in affected members of two SFD pedigrees.

SFD

SFD


Input: Loss of heterozygosity (LOH) of the p53 (17p) and BRCA1 (17q) tumor suppressor genes has been frequently identified in sporadic ovarian carcinomas.

sporadic


Input: GLUT10 deficiency is associated with upregulation of the TGFbeta pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity.

arterial tortuosity

arterial tortuosity


Input: Moreover, prkar1a (+/-) mice exhibited a marked propensity for extracardiac tumorigenesis.

tumorigenesis


Input: Interestingly, the Palb activity was increased at the time of recurrence of proteinuria following transplantation (Palb 0. 73 +/-0. 10) and remained elevated when retested more than 3 years later (Palb 0. 54 +/-0. 09).

Palb

proteinuria


Input: In conclusion, molecular profiling of mesenchymal chondrosarcoma using a proteomic approach characterized the mesenchymal chondroblasts as possessing pathways that incorporate PKC-alpha and PDGFR-alpha signaling and anti-apoptotic bcl-2 expression.

mesenchymal chondrosarcoma

mesenchymal chondrosarcoma


Input: Herein, we evaluated whether genetic variants of HLA-DP and HLA-DQ are associated with cervical cancer risk.

HLA-DP

cervical cancer


Input: We found that protein and gene expressions of alpha6 and beta4 subunits were strongly reduced in the androgen-sensitive cell line LNCaP respect to the androgen-independent PC3 and that transfection of PC3 cells with a full-length androgen receptor expression vector resulted in a decreased expression of alpha6beta4 integrin, reduced adhesion on laminin, and suppressed Matrigel invasion.

androgen receptor

adhesion


Input: Thus, the regulation via Sp1 represents a further control point for GluR2 expression in glioma cells.

glioma


Input: Farber disease (MIM 228000) is a rare autosomal recessive condition caused by deficiency of lysosomal acid ceramidase (EC 3. 5. 1. 23).

acid ceramidase

Farber disease

acid ceramidase

Farber disease


Input: Identification of a novel estrogen-regulated gene, EIG121, induced by hormone replacement therapy and differentially expressed in type I and type II endometrial cancer.

estrogen-regulated gene

endometrial cancer


Input: The functional polymorphism Asn (107) Ile (rs324981, A > T) of the neuropeptide S receptor (NPSR1) gene is involved in the modulation of traits that affect alcohol use.

alcohol use


Input: By using electron microscopy we also demonstrated production of HBD-2 after M. tuberculosis infection and adherence of HBD-2 to the membranes of M. tuberculosis.

tuberculosis infection


Input: AIM: This study is aimed to observe the frequency and nature of mutations in exons 5-8 of p53 gene and to evaluate its correlation with prevalence of serum p53 antibodies in Indian patients with gallbladder cancer (GBC).

AIM

gallbladder cancer


Input: We studied EBP1, an ErbB3 binding protein, and the effects of p48 and p42 isoforms on the MHC II expression in U87 glioblastoma, M14 melanoma and MCF7 mammary carcinoma cell lines.

melanoma


Input: A multiple regression with stepwise selection identified elevated BMI, Caucasian and Native Hawaiian versus Japanese race/ethnicity, and current smoking as being associated with significantly higher serum CRP and IL-6 levels.

smoking


Input: This mechanism provides a biological explanation for why SHBG is a sensitive biomarker of insulin resistance and the metabolic syndrome, and why low plasma SHBG levels are a risk factor for developing hyperglycemia and type 2 diabetes, especially in women.

SHBG

insulin resistance


Input: Moreover, the conventional osteosarcoma with cytoplasmic IGF and IMP3 showed more MVD than parosteal and periosteal osteosarcoma with cytoplasmic IGF and IMP3, and the difference was significant (P = 0. 035).

MVD

conventional osteosarcoma


Input: To date, the TRIF-deficient patients with HSE described herein have suffered from no other infections.

TRIF

infections


Input: Recent investigations demonstrate moonlighting roles for the proteins epimorphin, FGF1, FGF2, PLK1 and Ku80, to name a few, during oncogenesis and inflammation.

inflammation


Input: Triple A syndrome is caused by mutations in the gene encoding ALADIN, leading to achalasia, alacrima and addisonism.

ALADIN

Triple A syndrome

ALADIN

Triple A syndrome


Input: Indeed, this feature characterized both familial and sporadic tumours displaying BRCA1-or BRCA2-like spectrums of genomic alterations.

sporadic


Input: K-ras and p53 gene mutations are known to occur in high frequencies in sporadic colorectal cancers, but findings are inconsistent in hereditary nonpolyposis colorectal cancer (HNPCC).

p53 gene

sporadic


Input: Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.

PTEN

Cowden disease

PTEN

Cowden disease


Input: In the lung, lack of Nrf2 exacerbated toxicity caused by multiple oxidative insults including supplemental respiratory therapy (e. g., hyperoxia, mechanical ventilation), cigarette smoke, allergen, virus, bacterial endotoxin and other inflammatory agents (e. g., carrageenin), environmental pollution (e. g., particles), and a fibrotic agent bleomycin.

hyperoxia


Input: Among the HCV-seropositive patients, viral load inversely correlated with the Th1 effector cell response to NS3.

viral load


Input: Linkage to chromosome 3p22-p24 has been found in both families, with no evidence of linkage to loci for known HSN I, autosomal dominant hereditary motor and sensory neuropathy, hereditary GOR or triple A syndrome.

GOR

hereditary motor and sensory neuropathy


Input: The CHILD syndrome (MIM 308050), an acronym for congenital hemidysplasia with ichthyosiform nevus and limb defects, is an X-linked dominant trait with lethality for male embryos.

MIM

nevus


Input: Unlike KS1, developmental delay and learning disability are generally moderate-severe in boys but mild-moderate in girls with KS2.

mild


Input: We suggest that neutrophilia during tuberculosis indicates failed Th1 immunity or loss of IFN-γ responsiveness.

IFN

neutrophilia


Input: Among the three ACE I/D variants, the DD genotype was associated with the highest value of the mean systolic blood pressure [SBP] and mean diastolic blood pressure [DBP] (p = < 0. 05) in men, but not in women.

DBP

systolic blood pressure


Input: Here, we report that both Six1 and Eya1 are strongly expressed in the peri-cloacal mesenchyme (PCM) surrounding the cloaca, the terminal end of hindgut dilation.

dilation


Input: This study evaluated whether EMT of BECs has a role in hepatolithiasis-induced biliary fibrosis and types of BECs that are involved.

EMT

hepatolithiasis


Input: The purpose of this study was to analyze the originally described family with XLCM (and other) for dystrophin mutations.

dystrophin

XLCM

dystrophin

XLCM


Input: Global protein O-GlcNAcylation and the main enzymes regulating O-GlcNAc, O-GlcNAc transferase (OGT), O-GlcNAcase (OGA), and glutamine-fructose-6-phosphate amidotransferase (GFAT) were measured by immunoblot and/or real-time RT-PCR analyses of left ventricular tissue from aortic stenosis (AS) patients and rat models of hypertension, myocardial infarction (MI), and aortic banding (AB), with and without failure.

GFAT

aortic stenosis


Input: U251-HRE-mCherry cells expressing Luciferase under the control of a hypoxia responsive element (HRE) and mCherry under the control of a constitutive promoter were used to assess HIF-1α activity and cell survival after treatment, both in vitro and in vivo, by optical, MRI and positron emission tomography imaging.

MRI

hypoxia


Input: STAT-3 is active during the regenerative growth of the liver, but there are hardly any data about its presence in liver tumours.

liver tumours

liver tumours


Input: These data establish locus heterogeneity in multiple-synostosis syndrome and demonstrate that the disorder can result from mutations in either the NOGGIN or the GDF5 gene.

multiple-synostosis syndrome

multiple-synostosis syndrome


Input: The SCZ (schizophrenia)-associated GABA (A) receptor (gamma-aminobutyric acid type A receptor) beta (2) subunit gene GABRB2 was recently associated with BPD (bipolar disorder).

GABA (A) receptor (gamma-aminobutyric acid type A receptor) beta (2) subunit

bipolar disorder

GABA (A) receptor (gamma-aminobutyric acid type A receptor) beta (2) subunit

bipolar disorder


Input: The authors report two novel mutations confirming that GAN is caused by mutations in the gigaxonin gene and raise the question whether some mutations may cause a mild subclinical neuropathy.

gigaxonin

GAN

gigaxonin

GAN


Input: These results suggested that HLA-DR3 and CTLA-4 conferred a general increased risk for GD in both the sporadic and familial forms, and that the risk conferred by them was additive.

sporadic


Input: BRCA2-associated breast carcinomas tend to be of higher grade than sporadic age-matched controls.

sporadic


Input: Together, these data indicate that under hypoxic conditions the CD40-CD40L interaction significantly influences adhesion molecule expression, stress generation, actin polymerization, and monocytic adhesion to endothelial cells in addition to changes in signaling.

hypoxic


Input: Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.

9q subtelomeric deletion syndrome

9q subtelomeric deletion syndrome


Input: The 10q23. 3 gene PTEN (phosphatase and Tensin homologue deleted on chromosome 10) or MMAC1 (mutated in multiple advanced cancers 1) was recently reported to undergo frequent mutation, including mutations and deletions in multiple advanced cancers.

Tensin

cancers


Input: The controls included cases of BRCA2-associated breast cancer and sporadic cases.

sporadic


Input: SMARCAL1 is phosphorylated in a caffeine-sensitive manner in response to double-stranded breaks and stalled replication forks.

caffeine


Input: Detection of either the PAX8-PPARG translocation or the 3p25 aneusomy in FTC indicates that these are independent genetic events.

PPARG

translocation


Input: We conclude that the incidence of carrying PINK1 mutations in the present cohort of Taiwanese EOPD patients was low, accounting for 2/39 (5. 1%) in familial cases, and 2/99 (2%) in sporadic cases.

sporadic


Input: Imaging of intratumoral inflammation during oncolytic virotherapy of tumors by 19F-magnetic resonance imaging (MRI).

MRI

inflammation


Input: HDAC2 and TXNL1 distinguish aneuploid from diploid colorectal cancers.

aneuploid


Input: Substantial levels of RANKL were found to be expressed on leukemia cells in 53 of 78 (68%) investigated patients.

RANKL

leukemia


Input: To the best of our knowledge, the present study was the first to investigate the role of GPR137 in gastric tumorigenesis and revealed that knockdown of GPR137 by lentivirus‑mediated shRNA transfection inhibited the growth of gastric cancer cells in vitro.

tumorigenesis


Input: Expression of RAGE and HMGB1 in thymic epithelial tumors, thymic hyperplasia and regular thymic morphology.

RAGE

hyperplasia


Input: Among patients with chronic liver disease, TTV DNA occurred in those with liver cirrhosis and hepatocellular carcinoma more frequently than in those with chronic hepatitis (35 of 65 or 54% vs. 20 of 62 or 32%, P < 0. 05).

TTV

chronic hepatitis


Input: HRF-overexpressing cells exhibited high implantation efficiency in comparison to control cells when the cells were injected into the peritoneal cavities of nude mice.

HRF

cavities


Input: Chronic schizophrenia is associated with over-expression of the interleukin-2 receptor gamma gene.

interleukin-2 receptor gamma

Chronic schizophrenia

interleukin-2 receptor gamma

Chronic schizophrenia


Input: Three-way translocation involves MLL, MLLT3, and a novel cell cycle control gene, FLJ10374, in the pathogenesis of acute myeloid leukemia with t (9; 11; 19) (p22; q23; p13. 3).

translocation


Input: Neither 5 patients with late-onset FAD nor 27 patients with sporadic AD had the mutation.

FAD

sporadic


Input: Antibody-based assays for hCE1 and AFP were used to test both biomarkers with respect to diagnostic efficiency, Youden' s index and the area under the curve (AUC) through receiver operating characteristic (ROC) analysis in plasma from 208 patients with HCC (n = 57), liver cirrhosis (n = 27), chronic hepatitis (n = 37), cholangiocarcinoma (n = 22), gastric cancer (n = 31) and pancreatic cancer (n = 34), along with 52 healthy donors (HDs).

HCC

chronic hepatitis


Input: Notably, MGF expression was remarkably higher in PCa and prostatic intraepithelial neoplasia (PIN) than normal prostate tissues, while the normal prostate epithelial cells (HPrEC) did not express MGF.

MGF

prostatic intraepithelial neoplasia


Input: Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma which is characterized by the presence of a specific chromosomal translocation encoding the chimeric transcription factor (ASPL-TFE3) that activates expression of MET.

MET

chromosomal translocation


Input: Forty-two children, mean age 6. 4 years (range 9 months to 15 years), received an allogeneic BMT for: acute lymphoblastic leukaemia (ALL), n = 17; acute myeloid leukaemia (AML), n = 5; biphenotypic leukaemia, n = 1; myelodysplastic syndrome (MDS), n = 5; chronic granulocytic leukaemia (CGL), n = 1; severe aplastic anaemia (SAA), n = 7; familial erythrophagocytic lymphohistiocytosis (FEL), n = 2; beta thalassaemia major (beta thal), n = 1; and juvenile chronic myeloid leukaemia (JCML), n = 3.

SAA

aplastic anaemia


Input: The transcription factor SP4 is reduced in postmortem cerebellum of bipolar disorder subjects: control by depolarization and lithium.

transcription factor SP4

bipolar disorder

transcription factor SP4

bipolar disorder


Input: The IL6 polymorphism was also associated with cardiovascular disease in heterozygous individuals (P = 0. 044), and was found to have a significant interaction with smoking (P = 0. 024).

smoking


Input: In the most common primary brain tumors, malignant glioma cells invade the extracellular matrix (ECM) and proliferate rapidly in the cerebral tissue, which is mainly composed of hyaluronan (HA) along with the elastin present in the basement membrane of blood vessels.

ECM

primary brain tumors


Input: Previous studies have reported that 60% of sporadic schwannomas showed inactivation of the NF2 gene, but genetic alterations of remaining 40% tumors remain elusive.

NF2 gene

sporadic


Input: Each subject underwent an evaluation of body mass index (BMI), hirsutism, acne and menstrual cycle abnormalities as well as follicular stimulating hormone (FSH), luteinizing hormone (LH), total and free testosterone, androstendione, dehydroepiandrosterone sulphate (DHEAS), sex hormone binding globulin (SHBG), fasting glucose and fasting insulin.

SHBG

body mass index


Input: These studies demonstrate that IGF peptides regulate CM concentrations of IGFBP-3 through non-receptor mediated dissociation of cell surface-associated IGFBP-3.

IGF

dissociation


Input: The tumor cannot be completely eradicated only with ZD55-MnSOD, although ZD55-MnSOD has obvious antitumor activity.

MnSOD

tumor

MnSOD

tumor


Input: TNF-alpha-308 * 2 allele frequency was not significantly different between the population control subjects and the smoking-related COPD patients (4. 7% vs. 7. 9%, P = 0. 14).

TNF-alpha

smoking


Input: NO synthesis increases, and MDA production decreases through ERβ-mediated pathway that suppresses apoptosis and NF-κB activity in endothelial cells that downregulates adhesion molecules expression on endothelial cells via ERβ/NO/NF-κB pathway, and in turn leukocyte adhesion, which suggests BSNXD potential value in prophylaxis atherosclerosis.

NF-κB

adhesion


Input: The mutation was heteroplasmic and abundantly present in COX-negative fibers, but less abundant or absent in COX-positive fibers; it was not found in blood or fibroblasts from the patient or in blood samples from the patient' s asymptomatic mother and sister.

COX

asymptomatic


Input: Netrin-4, a laminin-related secreted protein is an axon guidance cue recently shown essential outside of the nervous system, regulating mammary and lung morphogenesis as well as blood vascular development.

nervous system


Input: DEC1 [basic helix-loop-helix (BHLH) E40/Stra13/Sharp2] and DEC2 (BHLHE41/Sharp1) are BHLH transcription factors that are associated with the regulation of apoptosis, cell proliferation, and circadian rhythms, as well as malignancy in various cancers.

circadian rhythms


Input: At a 90% specificity, the respective best single marker found the following fraction of all patients who had tumor progression clinically detected: in SCLC with NSE 52%, in adenocarcinoma with CYFRA 21-1 89% and in squamous carcinoma with SCC 65%.

NSE

tumor progression


Input: Six unrelated Japanese families with FJHN were examined for mutations of the UMOD gene by direct sequencing.

UMOD

FJHN

UMOD

FJHN


Input: All three biomarkers exhibited sexual dimorphisms (levels higher in women for fetuin-A and FABP4 but greater in men for RBP4) and were associated positively with insulin resistance assessed using the homeostasis model, with high-sensitivity C-reactive protein, and with prevalent MetSyn (P < 0. 01 for all).

C-reactive protein

insulin resistance


Input: In-vitro investigation of the PKD1-β-catenin interaction in colon cancer cells reveal that PKD1 overexpression suppresses cell proliferation and clonogenic potential and enhances cell-cell aggregation.

colon cancer


Input: Functional tests on B cells harboring the newly identified amino acid substitutions indicate that they alter intracellular Ca2 + homeostasis and are most likely causative of malignant hyperthermia.

malignant hyperthermia


Input: Circulating immune complexes (IC) and IC-induced levels of GM-CSF are increased in sudanese patients with acute visceral Leishmania donovani infection undergoing sodium stibogluconate treatment: implications for disease pathogenesis.

GM-CSF

Leishmania donovani infection

GM-CSF

Leishmania donovani infection


Input: Mechanistically, WSB1 promotes pVHL ubiquitination and proteasomal degradation, thereby stabilizing HIF under both normoxic and hypoxic conditions.

hypoxic


Input: We identified two novel mutations of SURF1 in a Japanese LS patient with COX deficiency using direct sequencing analysis.

LS

LS


Input: The expression level of miRNA-134 (miR-134), a member of the DLK1-DIO3 genomic imprinted miRNA cluster, differed significantly between HuECSCs and human endometrial cancer cells (HuECCs).

endometrial cancer


Input: Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.

LRAT

leber congenital amaurosis

LRAT

leber congenital amaurosis


Input: SARM knockdown in resveratrol-treated mice enhanced gamma interferon production, RSV-induced airway inflammation, and airway hyperresponsiveness (AHR).

SARM

inflammation


Input: At 8-72 hr after ischemia, CAD/DFF40 mRNA and protein were induced in the degenerating hippocampal CA1 neurons.

ischemia


Input: Tumors with moderate HER2 (HER2 2 +) expression demonstrated an aggressive behavior and worse patient survival compared with HER2 0 and 1 + status.

aggressive behavior


Input: Despite the lack of activating mutations in the BRAF gene, we identified constitutively activated ERK in almost all (86%) uveal melanoma tissues tested but not in corresponding normal retina or uveal cells.

ERK

uveal melanoma


Input: The differentiation of carnitine-acylcarnitine translocase deficiency (CACT) from carnitine palmitoyltransferase type II deficiency (CPT-II) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency from mitochondrial trifunctional protein deficiency (MTP) continues to be ambiguous using current acylcarnitine profiling techniques either from plasma or blood spots, or in the intact cell system (fibroblasts/amniocytes).

3-hydroxyacyl-CoA dehydrogenase

carnitine-acylcarnitine translocase deficiency


Input: Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.

ovarian cancer

ovarian cancer


Input: We, therefore, studied the relationship between ACE gene I/D polymorphism and diabetic albuminuria and glomerular filtration rate (GFR) in 83 NIDDM patients followed up for 9 years.

GFR

albuminuria


Input: Giant axonal neuropathy is usually caused by mutations in the gigaxonin gene (GAN) but genetic heterogeneity has been demonstrated for a milder variant of this disease.

gigaxonin

Giant axonal neuropathy

gigaxonin

Giant axonal neuropathy


Input: Interestingly, inhibition of ET-1 in the senescent P30 fibroblasts by 2 different strategies (the use of siRNA and the use of endothelin converting enzyme inhibitors) markedly suppressed expression of fibrosis signals.

fibrosis


Input: We investigated the mRNA expression of OLIG1 and OLIG2, as well as four other genes involved in oligodendrocyte development (E2A, HEB, NKX2. 2, and PDGFRA) in a panel of 70 gliomas, including 9 oligodendrogliomas, 11 anaplastic oligodendrogliomas, 5 oligoastrocytomas, 10 anaplastic oligoastrocytomas, 10 diffuse astrocytomas, 10 anaplastic astrocytomas, and 15 glioblastomas.

NKX2. 2

gliomas


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: Collectively, PP2Ac upregulation has a poor prognostic impact on the overall survival of HCC patients and contributes to the aggressiveness of HCC.

HCC

aggressiveness


Input: Using the largest sample sizes reported so far for the identification of genetic determinants of circulating IgE levels, we investigated associations between total serum IgE (log-transformed) and single nucleotide polymorphisms in 8 genes that are candidate susceptibility loci for IgE levels/atopic illness (IL13, IL4, IL4RA, FCER1B, IL12B, TBET) and/or type 1 diabetes (CTLA4, PTPN22, IL2RA).

atopic


Input: TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors.

myofibroblastic tumors

myofibroblastic tumors


Input: Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

intellectual disability

intellectual disability


Input: Independently, Tensin-4 (TNS4) is emerging as a putative oncogene in many cancer types, but the mechanisms of TNS4 oncogenic activity are not well established.

Tensin

cancer


Input: Adenosine diphosphate (ADP)-mediated platelet aggregation, aneurysm expansion, intraluminal thrombus formation, inflammatory infiltration, matrix metalloproteinase-9 (MMP-9) expression, and smooth muscle cell colonization were measured.

ADP

aneurysm


Input: Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferase.

osteoporosis

osteoporosis


Input: We report here hypoxia increased the expression of miR-96 in prostate cancer cells, and miR-96 stimulated autophagy by suppressing MTOR.

MTOR

hypoxia


Input: In conclusion, KWE in South African and Norwegian families is caused by tandem duplications in a non-coding genomic region containing an active enhancer element for CTSB, resulting in upregulation of this gene in affected individuals.

CTSB

KWE

CTSB

KWE


Input: Furthermore, by immunohistochemical studies, MAP2A was shown to highly and selectively express in invasive oral cancer tissues, consistent with its motility-promoting cellular function revealed through in vitro assays.

oral cancer


Input: Although Lcn2 did not appear to be specific for kidney toxicity, its rapid response to inflammation and tissue damage in general may suggest its utility in routine toxicity testing.

inflammation

inflammation


Input: The androgen receptor CAG and GGN repeat polymorphisms and prostate cancer susceptibility in African-American men: results from the Flint Men' s Health Study.

GGN

prostate cancer susceptibility


Input: Our work has revealed mutations in the GLYCTK gene as the cause of D-glycerate kinase deficiency and D-glyceric aciduria and provides a noninvasive approach for further diagnostic workup and research.

GLYCTK

D-glycerate kinase deficiency

GLYCTK

D-glycerate kinase deficiency


Input: Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl (-)/I (-)/HCO (3) (-) exchanger.

EVA

enlargement


Input: To assess spinal inflammation by magnetic resonance imaging (MRI) before and after treatment with the tumor necrosis factor receptor fusion protein etanercept compared with placebo.

MRI

inflammation


Input: In the present study, IMI, as indicated by the impaired expression of tight junction proteins, including zonula occludens-1, occludin and claudin-1, and inflammation were determined in colonic tissues of patients with 45 strangulated intestinal obstruction (STR-IO) and the adjacent " normal " colonic tissues of 35 patients with colon cancers by quantitative real-time polymerase chain reaction (QRT-PCR), Western blotting, immunohistochemistry and histological examination, respectively.

occludin

inflammation


Input: Collectively, these observations implicate AT-rich DNA sensing via STING, TBK1 and IRF3-IRF7 in P. falciparum malaria.

STING

falciparum malaria


Input: Induction of the JAK2-V617F transgene with the interferon-inducible MxCre resulted in expression of JAK2-V617F approximately equal to wild-type Jak2 and a PV-like phenotype with increased hemoglobin, thrombocytosis, and neutrophilia.

hemoglobin


Input: We have shown for the first time that mutations in the SARDH gene are associated with sarcosinemia.

SARDH

sarcosinemia

SARDH

sarcosinemia


Input: It is suggested that BGP foci are promising candidates for the further investigation of' de novo' colorectal carcinogenesis.

BGP

carcinogenesis


Input: Constitutive STC2 expression in human breast cancer cell lines resulted in significant impairment of cell growth, migration and cell viability after serum withdrawal.

breast cancer

breast cancer


Input: After 12 weeks, spinal inflammation (as assessed by T2-weighted MRI with fat saturation) regressed by 54% in the etanercept group (mean score 1. 33 per VU at baseline and 0. 61 per VU at 12 weeks; P = 0. 002) but worsened by 13% in the placebo group (0. 94 at baseline and 1. 06 at 12 weeks) (P < 0. 001 between groups).

MRI

inflammation


Input: Here, we report four de novo RRAS2 variants in three individuals with NS.

NS

NS


Input: The aim of this study was to determine the role of PAR-1 in the development of skin fibrosis.

fibrosis


Input: Kaplan-Meier survival curve and Cox regression model were used to evaluate the clinical significance of CXCL14 expression in gastric cancer.

regression


Input: These findings demonstrate that deleted mtDNA had accumulated in COX deficient muscle fibres in patients with inclusion body myositis.

COX

inclusion body myositis


Input: Acute and chronic ethanol exposure have been shown to modulate function of the activity-dependent gene transcription factor, cAMP-responsive element binding (CREB) protein in the brain, which may be associated with the development of alcoholism.

CREB

alcoholism

CREB

alcoholism


Input: To get more precise evidences, adjusted ORs (95% CI) by potential confounders (such as age, ethnicity or smoking, etc) were also calculated for XRCC1 Arg399Gln and Arg194Trp, however, the estimated pooled adjusted OR still did not change at all.

smoking


Input: Elafin-positive tumor cells were only found in glioblastoma, where they were clustered around necrotic areas.

Elafin

necrotic


Input: Because PNEC/NEB are sparsely distributed and difficult to study in native lung, we investigated small-cell lung carcinoma (SCLC) and carcinoid tumor cell lines (tumor counterparts of normal PNEC/NEB) as models for PNEC/NEB.

NEB

lung carcinoma


Input: We identified the BRCA1/2 genetic mutation test results of 1223 breast cancer patients and 174 patients with ovarian cancer.

ovarian cancer

ovarian cancer


Input: The hazard ratio (HR) for DD (multivariate analysis from Cox proportional model after adjustment for known factors of progression, such as hypertension [HPT] and proteinuria [PTO]) was 3. 07 (CI, 1. 1 to 9. 4).

HPT

proteinuria


Input: ], rs3817198 [lymphocyte-specific protein-1] and rs4666451) were marginally associated with mammographic density (p < 0. 10).

lymphocyte-specific protein

mammographic density


Input: Detected the serum IGF1, IGFBP3, body weight, body length, intestinal weight length, intestinal villi height (VH), crypt depth (CD), villi absorbing area (VSA), mucous thickness (MT), and disaccharidase at the 4th week.

weight


Input: We analyzed expression of human NEUROD1, NEUROD2, NEUROD3, and ACHAETE SCUTE 1 (HASH1) in cerebellar and cerebral primitive neuroectodermal tumors (PNETs), gliomas, and cell lines derived from a variety of neuroectodermal tumors by Northern analysis and in situ hybridization.

gliomas


Input: These results confirm that CS is caused, in most cases, by heterozygous missense mutations in the proto-oncogene HRAS.

HRAS

CS

HRAS

CS


Input: Furthermore, we found that expression of CD155/PVR increased Src/focal adhesion kinase signaling in a substrate-dependent manner, enhancing the adhesion-induced activation of paxillin and p130Cas in cells adhering to vitronectin.

adhesion


Input: NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.

idiopathic nephrotic syndrome

idiopathic nephrotic syndrome


Input: Serum LBP concentrations increased with age (P & lt; 0. 001) and were higher in individuals who were overweight or obese than in normal-weight individuals (P & lt; 0. 001).

LBP

obese

LBP

obese


Input: Tissue samples of primary tumors and metastatic lymph nodes from 150 patients undergoing intentionally curative surgical resections for colorectal adenocarcinoma were immunohistochemically examined for vascular endothelial growth factor-C, cyclooxygenase-2, and CD34 expressions.

colorectal adenocarcinoma


Input: Genetic deletion of p53 suppresses neurodegeneration in mHtt-Tg flies and neurobehavioral abnormalities of mHtt-Tg mice.

neurodegeneration


Input: Immunohistochemical analysis of human gastritis, gastric adenoma, and gastric cancer tissues revealed that IL-6 was frequently detected in the stroma.

gastric adenoma


Input: Attenuating MPHOSPH1 expression with a tumor-selective shRNA-expressing adenovirus (Ad-shMPP1) was sufficient to arrest HCC cell proliferation in a manner associated with an accumulation of multinucleated polyploid cells, induction of postmitotic apoptosis, and increased sensitivity to taxol cytotoxicity.

HCC

adenovirus


Input: Women who were NAT2 fast acetylators in the highest quartile for duration of active smoking had an OR of 2. 74 (95% CI 1. 42-5. 27), with a significant test of trend (p = 0. 005).

smoking


Input: The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with short stature, skeletal dysplasia, immunological abnormalities, optic atrophy, and normal motor and cognitive development resembling SOPH syndrome.

NBAS

skeletal dysplasia