Input: These results suggest that the inside-out activation of the α5β1-integrin mediated by ERdj3/Prtg/Radil signaling is crucial for proper functions of R-CNCCs, and the deficiency of this pathway causes premature apoptosis of a subset of R-CNCCs and malformation of craniofacial structures.

malformation


Input: Finally, metformin-based combinatorial therapy effectively blocked tumor growth in xenografts with TKI-resistant cancer cells, which was associated with decreased IL-6 secretion and expression, EMT reversal, and decreased IL-6-signaling activation in vivo.

EMT

resistant cancer


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

ODD

antisocial behavior


Input: Aldo-keto reductases AKR1C1, AKR1C2 and AKR1C3 may enhance progesterone metabolism in ovarian endometriosis.

endometriosis

endometriosis


Input: Sciatic nerve injury-induced muscle atrophy as well the reduction in MyoD was attenuated in RFP knockout mice.

RFP

muscle atrophy


Input: In this study, we tested a hypothesis that the balance of tissue expression of ATRAP and Ang II type 1 receptor is regulated in a tissue-specific manner during the development of hypertension and related cardiac hypertrophy.

ATRAP

cardiac hypertrophy


Input: Responses of neoplastic (PC-3 and CPA) and non-neoplastic (CAPE) prostatic cell lines to epidermal growth factor (EGF) and transforming growth factor-alpha (TGF-alpha) were determined using clonogenic and growth curve analysis.

CAPE

non-neoplastic


Input: To evaluate and confirm the association between the VEGF-1154G > A polymorphism and spontaneous abortion, we focused on the relationship between four polymorphisms in the VEGF gene (-2578C > A,-1154G > A,-634G > C, and 936C > T) and spontaneously aborted fetuses (SAFs).

VEGF

spontaneous abortion


Input: Two novel heterozygous missense mutations (p. H42Y and p. V75L) and previously reported heterozygous missense mutation p. Q6H in HESX1 were identified in 3 of 217 patients (1. 4%). All were males with KS.

KS

KS


Input: The anti-TB drugs interactions with smoking on hepatotoxicity, as well as the NAT2 phenotype, may require to adjust therapeutic regimen dosages or alarm in case of adverse event developments.

smoking


Input: FLCs contain mutations and chromosomal aberrations not previously associated with liver cancer, and almost 80% contain the DNAJB1-PRKACA fusion transcript.

chromosomal aberrations


Input: These results suggest that knock down of CIAPIN1 by adenovirus-delivered siRNA may be a potential therapeutic strategy for treatment of HCC in which CIAPIN1 is overexpressed.

HCC

adenovirus


Input: Colonization rates of H. pylori, degree of gastric inflammation and other pathological changes including atrophic gastritis and metaplasia, serum levels and mRNA transcripts of various mouse cytokines and chemokines, and NF-kappaB binding activities, and finally the presence of gastric adenocarcinoma were compared between H. pylori infected group (HP), and H. pylori infected group administered with long-term rebamipide containing pellet diets (HPR) or nimesulide mixed pellets (HPN).

HPR

metaplasia


Input: In contrast to TAC, antagonizing the function of CTGF had no effect on LV dysfunction or LV hypertrophy in mice subjected to 4-week angiotensin II infusion.

angiotensin II

LV hypertrophy

angiotensin II

LV hypertrophy


Input: Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

aspartoacylase

Canavan disease

aspartoacylase

Canavan disease


Input: The pathogenesis of DC, as well as several congenital bone marrow failure (BMF) syndromes, converges on the DNA damage response (DDR) pathway and subsequent elevation of reactive oxygen species (ROS).

DDR

bone marrow failure


Input: This amino acid substitution occurs within a highly conserved region of the extracellular domain of CD18 in which several other mutations have been identified in LAD.

LAD

LAD


Input: When proteasome activity is blocked in the presence of wild-type DJ-1, TTRAP forms aggregates that are localized to the cytoplasm or associated to nucleolar cavities, where it is required for a correct rRNA biogenesis.

cavities


Input: Skin expression of the TGFbeta-regulated genes cartilage oligomeric matrix protein (COMP) and thrombospondin 1 (TSP-1) correlated moderately well with the MRSS, but the addition of other TGFbeta-regulated genes failed to significantly improve best-fit models.

COMP

fit


Input: In this study we describe a new dominant point mutation in COL1A1 causing a lethal form of Osteogenesis imperfecta (type II B).

Osteogenesis imperfecta (type II

Osteogenesis imperfecta (type II


Input: Hemochromatosis mice, cytomegalovirus (CMV) infection of retina, expression of CMV-US2 in RPE, and exposure of RPE to ferric ammonium citrate (FAC) were used to examine the iron-dependent regulation of GPR91 expression.

cytomegalovirus


Input: No statistically significant differences in the genotype and allele frequency of IL4 and IL10 gene polymorphisms between symptomatic and asymptomatic patients were observed.

asymptomatic


Input: In addition, Skp2 expression correlates with tumor dedifferentiation and may contribute to biological aggression in HCC.

HCC

aggression


Input: MET-1 also preserved cecum tight junction protein expression, and reduced S. typhimurium translocation to the spleen.

MET

translocation


Input: Administration of puerarin also effectively rectified the coagulation disorder in asthmatic rats, such as prothrombin time (PT) (P < 0. 01), thrombin time (TT) (P < 0. 05), fibrinogen (FIB) (P < 0. 01), the activity of factor II (FII) (P < 0. 01), the activity of factor V (FV) (P < 0. 05), the activity of factor VII (FVII) (P < 0. 05), the activity of factor X (FX) (P < 0. 05), the activity of factor VIII (FVIII) (P < 0. 01), the activity of factor IX (FIX) (P < 0. 05), and the activity of factor XII (FXII) (P < 0. 05).

factor II

fibrinogen


Input: Our results suggest that Npas4 may play a major role in the regulation of cognitive and social functions in the brain with possible implications for developmental disorders such as schizophrenia and autism.

schizophrenia

schizophrenia


Input: We found that meclozine, an anti-histamine drug that has long been used for motion sickness, facilitates chondrocyte proliferation and mitigates loss of extracellular matrix in FGF2-treated rat chondrosarcoma (RCS) cells.

motion sickness


Input: IL-15-dependent activation-induced cell death-resistant Th1 type CD8 alpha beta + NK1. 1 + T cells for the development of small intestinal inflammation.

inflammation


Input: The fundus of gp130 (F/F)/Tff2 (-/-) mice displayed glandular atrophy and metaplasia, indicating accelerated preneoplasia.

atrophy


Input: We observed that somatic MSH2 hypermethylation was present in 24% (11 of 46) of MSH2-deficient (presumed Lynch syndrome) tumors, whereas no evidence for MSH2 methylation existed in sporadic CRCs (MSI and microsatellite stable) or normal colonic tissues.

sporadic


Input: In addition, inhibition of Nrf2 greatly suppressed in vitro and in vivo tumor growth of DU-145 prostate cancer cells.

prostate cancer

prostate cancer


Input: Genomic DNA samples from 93 sporadic colorectal adenocarcinoma cases and 95 healthy controls (age and ethnicity matched) were used to genotype the p53 codon 72 polymorphism.

sporadic


Input: Myeloid neoplasm with eosinophilia and abnormalities of Alpha type platelet derived growth factor receptor (PDGFRA) is a type of hypereosinophilic syndrome characterized by multiorgan damage due to eosinophilia.

PDGFRA

abnormalities


Input: We investigated the patterns of blood count, surface antigen, expression, chromosome aberrations, PML-RARa isoform, gene expression profile (GEP) and survival in 34 APL patients according to FLT3-ITD status.

GEP

chromosome aberrations


Input: These findings suggest an important role for BRCA2 in the development and progression of sporadic male breast cancer.

sporadic


Input: Differences in PEDF observed after weight loss were related to changes in obesity, insulin resistance, and blood pressure measures.

PEDF

blood pressure


Input: We have previously described two missense mutations in the UROIIIS gene, confirming that the primary defect responsible for CEP is a structural alteration of this gene.

UROIIIS

CEP

UROIIIS

CEP


Input: We investigated two single nucleotide polymorphisms of the NOS3 gene in type 2 diabetic patients (n = 93) and healthy non-diabetic controls (n = 76) and their relationship with smoking habits, body mass index, hypertension and dyslipidemia.

NOS3 gene

body mass index


Input: Riluzole' s therapeutic potential for treating mood disorders may involve GLT-1 and BDNF, and we suggest this protocol could be used to further characterize its precise long-term biochemical mechanisms of action in animal models of depression.

depression

depression


Input: The cooperative action between T cell activation and MKK6-mediated DC activation by Ni played an important role in the development of Ni allergy.

allergy

allergy


Input: The absence of either CD8 + or CD20 + cells during the SHIV (DH12R-Clone 8) acute infection resulted in the rapid, complete, and irreversible loss of CD4 + T cells; sustained high levels of postpeak plasma viremia; and symptomatic disease in Mamu-A * 01-negative Indian rhesus monkeys.

viremia


Input: Taken together, our study strengthens the notion that laforin and malin are pro-survival factors, and that the activation of Hipk2-p53 cell death pathway might underlie neurodegeneration in LD.

neurodegeneration


Input: The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

neurofibromatosis type I

neurofibromatosis type I


Input: The aim of the study was to determine the relationship between the C825T polymorphism of the gene encoding for the G protein beta3 subunit (GNB3 C825T) and vascular hypertrophy.

hypertrophy


Input: Results showed that high expression of miR-221 was exhibited in ARC tissues compared with that in normal samples and associated with Lens Opacities Classification System III grades.

Lens Opacities

Lens Opacities


Input: Loci on chromosome 10 include MSMB, which encodes beta-microseminoprotein, a primary constituent of semen and a proposed prostate cancer biomarker, and CTBP2, a gene with antiapoptotic activity; the locus on chromosome 7 is at JAZF1, a transcriptional repressor that is fused by chromosome translocation to SUZ12 in endometrial cancer.

endometrial cancer

endometrial cancer


Input: The following biomarkers were used: heat shock protein 70 (Hsp70, a molecular chaperone), glial cell line-derived nerve growth factor (GDNF, a growth factor promoting neuronal differentiation, regeneration, and survival), and neural cell adhesion molecule (NCAM).

shock


Input: Ectopic expression of Slit2 activated Slit2/Robo1 signaling and promoted tumorigenesis and tumor growth.

tumorigenesis


Input: Eligible patients underwent RFA for BE containing early cancer and/or high-grade intraepithelial neoplasia with subsequent complete histological reversion to normal NSE.

NSE

intraepithelial neoplasia


Input: Translesion synthesis (TLS) polymerases enable cells to bypass or overcome DNA damage during DNA replication and contributes to genomic instability and cancer.

TLS

genomic instability


Input: Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, but never in patients with an additional combined deficiency of complexes I, III and IV and mitochondrial DNA (mtDNA) depletion.

Choline kinase beta

MDCMC

Choline kinase beta

MDCMC


Input: To evaluate the roles of P-D-xylosyltransferase I (XT-I) and beta-D-endoglycosidase heparanase (Hpa) in renal tissue with the development of adriamycin (ADR) nephropathy and relevance for proteinuria.

XT-I

proteinuria


Input: A diagnosis of T cell large granular lymphocyte (T-LGL) leukemia was made, based on cytomorphology, the typical CD3 +/CD4-/CD8 +/CD16 +/CD56-/CD57-/HLA-DR (+/-) immunophenotype of the lymphocytosis (9 x 10 (9)/l), and biallelic clonally rearranged T cell receptor beta (TCR beta) genes.

leukemia


Input: Furthermore, the polyclonal antibody specific to Nectin-2 suppressed the in vitro proliferation of OV-90 ovarian cancer cells, which express endogenous Nectin-2 on the cell surface.

ovarian cancer

ovarian cancer


Input: SHOX point mutations in dyschondrosteosis.

SHOX

dyschondrosteosis

SHOX

dyschondrosteosis


Input: In tumor cell lines, colorectal cancer cells SW480, SW620, SW1116 and Colo205, breast cancer cell Bcap37 and gastric cancer cells MKN28 and SGC7901 showed high levels of SNC19 expression; cervical cancer cell HeLa-S3, lung cancer PAA, oral epithelial cancer cell KB and lymphoma cell Raji showed moderate levels of SNC19 expression; and tongue squamous cancer cell Tca8113, leukemia cells HL-60, K562, MOLT-4, lung cancer cell A549 and melanoma cell G361 showed very low levels of SNC19 expression.

cervical cancer


Input: Individuals homozygous for the C282Y mutation in the HFE gene have abnormal transferrin saturation and serum ferritin values relative to the reference population; penetrance with the compound heterozygotes, as reflected by abnormal transferrin and ferritin values, is less than with the homozygotes.

HFE gene

abnormal transferrin saturation


Input: Silencing the expression of ATRIP by RNA interference abolished hypoxia induced ATR activation and CHK1 phosphorylation in cancer cells.

hypoxia


Input: Decreased platelet glycoprotein Ib, IIb, IIIa, and IIb/IIIa and vitronectin receptor expression were observed in the stroke patient.

vitronectin receptor

stroke

vitronectin receptor

stroke


Input: IMPACT: We examined the association of 14 established breast cancer susceptibility loci with mammographic density phenotypes within a large genetic consortium and identified two breast cancer susceptibility variants, LSP1-rs3817198 and RAD51L1-rs10483813, associated with mammographic measures and in the same direction as the breast cancer association.

mammographic density


Input: We have used the GABA (A) receptors of hippocampal area CA1 pyramidal cells to sense the rise of [GABA] (o) occurring in simulated ischemia.

ischemia


Input: These results demonstrate that LYL1 may play a role in early hematopoiesis and may be a potential oncogenic factor in AML.

AML

AML


Input: Interestingly, Ad-PUMA was found to be more efficient than Ad-p53 in inhibiting cell growth and enhancing the chemosensitivity of esophageal cancer cell lines irrespective of the p53 status.

PUMA

esophageal cancer

PUMA

esophageal cancer


Input: In this series of 28 high-grade serous carcinomas, gross genomic alteration characterized by aneuploidy did not correlate with BRCA1 status.

aneuploidy


Input: These results imply that systemic elevation of LPL expression may be potentially useful for the treatment of hyperlipidemias, obesity, and insulin resistance.

LPL

insulin resistance


Input: Neither smoking nor NAT2 status was independently associated with breast cancer risk.

smoking


Input: The biological mechanism underlying the association between UMOD risk variants and susceptibility to CKD and hypertension was not understood until last year, when the link between UMOD and hypertension was found to be caused by overactivation of the TAL sodium-potassium-chloride co-transporter NKCC2, pointing to UMOD as a therapeutic target for lowering blood pressure and preserving renal function.

blood pressure


Input: ARF peptide treatment also induced apoptosis of several distinct human hepatoma cell lines, which correlated with reduced protein levels of the mitotic regulatory genes encoding polo-like kinase 1, aurora B kinase, and survivin, all of which are transcriptional targets of FoxM1 that are highly expressed in cancer cells and function to prevent apoptosis.

hepatoma

hepatoma


Input: Systematic examination of protein depositions revealed parenchymal amyloid-β in 53. 8%, amyloid angiopathy (Aβ) in 23. 1%, phospho-tau immunoreactive neuritic profiles in 92. 3%, neurofibrillary degeneration in 38. 4%, new types of tau pathology in 33. 3%, and Lewy-type α-synuclein pathology in 15. 4%.

α-synuclein

amyloid angiopathy


Input: Complete STAT1 deficiency is an autosomal recessive primary immunodeficiency caused by null mutations that abolish STAT1-dependent cellular responses to both IFN-alpha/beta and IFN-gamma.

IFN

primary immunodeficiency


Input: In combined pituitary hormone deficiency or in complex syndromic CHH in which gonadotropin deficiency is either incidental or only one aspect of a more complex endocrine disorder or a non-endocrine disorder, other mutations affecting GNRH and/or gonadotropin secretion have been reported.

GNRH

endocrine disorder


Input: The endometrium fails to decidualize without SRC-2, which accounts for the infertility phenotype exhibited by mice devoid of this coregulator.

SRC

infertility


Input: SKI mRNA and protein levels dramatically increase during human melanoma tumor progression.

SKI

tumor progression


Input: Homozygosity for ACE D or PAI-1 4G polymorphisms as well as compound carrier status are significant positive explanatory variable for PCOS patients with SAB, which may result in increased PAI-1 concentrations and hypofibrinolysis and contribute to early pregnancy loss.

SAB

early pregnancy loss


Input: Immunohistochemistry indicated that the expression of VCAM-1 was reduced in the ICP group compared to that in control group.

ICP

ICP


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

hypoxic


Input: However, in multivariate analyses, SHBG levels varied significantly with rs1799941 and rs727428 genotype after controlling for body mass index, non-SHBG-bound testosterone, and homeostasis model for insulin resistance.

SHBG

body mass index


Input: In a prospective study, 68 HCV related HCC, 55 HCV related chronic hepatitis, and 68 HCV related patients with cirrhosis were included.

HCC

chronic hepatitis


Input: We have identified a third Ewing' s sarcoma translocation, the t (7; 22) (p22; q12), that fuses EWS to the human homologue of the murine ETS gene ER81.

EWS

translocation


Input: Mice received either no treatment or intra tumor IFN-gamma and/or intra peritoneal TMX.

TMX

tumor


Input: Death-associated protein kinase 1 (DAPK) is an important serine/threonine kinase involved in various cellular processes, including apoptosis, autophagy, and inflammation.

serine/threonine kinase

inflammation


Input: High molecular response rate and clinical correlation in patients with follicular lymphoma treated with cyclophosphamide-vincristine-prednisone plus interferon alpha 2b.

interferon alpha 2b

follicular lymphoma

interferon alpha 2b

follicular lymphoma


Input: This study demonstrates that B10 transplantation inhibits NF-κB activation, possibly through inhibition of CD40 and TLR2, which might be responsible for the inhibition of proinflammatory gene expression in macrophage/microglia in the infarct lesion.

infarct


Input: We report a novel transthyretin variant, Gly53Ala, in a 44-year-old British woman who presented with severe episodic headaches, often with focal neurological deficit, before developing progressive ataxia, depression, dementia and eventually peripheral neuropathy.

transthyretin

depression

transthyretin

depression


Input: The expression of the BAD-mediated apoptotic pathway was associated with the development and/or progression of ovarian (n = 106, p < 0. 001), breast (n = 185, p < 0. 0008; n = 61, p = 0. 04), colon (n = 22, p < 0. 001) and endometrial (n = 33, p < 0. 001) cancers, as well as with ovarian endometriosis (n = 20, p < 0. 001).

BAD

ovarian endometriosis


Input: Given the neuroprotective role attributed to this inhibitory cytokine, our results suggest that the down-regulation of TGF-beta 1 may lead to various neurotoxic insults potentially involved in the etiology of certain mood disorders.

TGF-beta 1

mood disorders

TGF-beta 1

mood disorders


Input: PRRT2 mutations co-segregated with PKD in two families and occurred in two sporadic cases of PKD.

sporadic


Input: The cyclin-dependent kinase inhibitor p21Cip1/Waf1/Sdi1 protects the lung against hyperoxia, but the mechanism of protection remains unclear because loss of p21 does not lead to aberrant cell proliferation.

cyclin-dependent kinase inhibitor

hyperoxia


Input: Bap1 is essential for kidney function and cooperates with Vhl in renal tumorigenesis.

tumorigenesis


Input: Accordingly, JAM-C/B blocking antibodies impair in vivo glioma growth and invasion, highlighting the potential of JAM-C and JAM-B as new targets for the treatment of human gliomas.

JAM-B

gliomas


Input: Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.

porphobilinogen deaminase

acute intermittent porphyria

porphobilinogen deaminase

acute intermittent porphyria


Input: Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

CERKL

CERKL


Input: EWS/FLI-1 is a chimeric protein formed by a tumor-specific 11; 22 translocation found in both Ewing' s sarcoma and primitive neuroectodermal tumor of childhood.

EWS

translocation


Input: A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus.

keratin 4

white sponge nevus

keratin 4

white sponge nevus


Input: We propose that dysregulation of mRNA splicing frequently generates an aberrant FGFR3 transcript that may confer a selectable advantage on clones of cells in colorectal tumorigenesis.

tumorigenesis


Input: A blood sample was collected from subjects and genotypes for p22phox (CYBA) NADPH oxidase, FP, Fcalpha and Fcgamma receptors were analysed in a blind fashion.

CYBA

blind


Input: A possible molecular mechanism for SORCS3 in synaptic depression was suggested by targeted proteomics approaches that identified the ability of SORCS3 to functionally interact with PICK1, an adaptor that sorts glutamate receptors at the postsynapse.

depression


Input: Implementing this systematic approach, we: (i) discovered 177 putative SZ risk genes in brain, 28 of which map to linked chromosomal loci; (ii) delineated six biological processes and 12 molecular functions that may be particularly disrupted in the illness; (iii) identified 123 putative SZ biomarkers in blood, 6 of which (BTG1, GSK3A, HLA-DRB1, HNRPA3, SELENBP1, and SFRS1) had corresponding differential expression in brain; (iv) verified the differential expression of the strongest candidate SZ biomarker (SELENBP1) in blood; and (v) demonstrated neuronal and glial expression of SELENBP1 protein in brain.

SZ

SZ


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

hyperlipidemia


Input: Relevance of translocation type in myxoid liposarcoma and identification of a novel EWSR1-DDIT3 fusion.

translocation


Input: S. typhimurium A1-R was effective against primary bone tumor and lung metastasis expressing RFP in a nude mouse model.

RFP

bone tumor


Input: Although nerve growth factor (NGF) is a well-known neurotrophic factor, it also acts as a mediator of pain, itch and inflammation.

NGF

itch


Input: We identified a G to A transition, resulting in a Glu506Lys substitution in the PRKAG2 gene in 8 of the family members, who all had cardiac hypertrophy and ventricular pre-excitation.

PRKAG2 gene

cardiac hypertrophy


Input: To clarify this hypothesis, the effects of hypoxia on the growth responses to hormonal agents and the expression levels of estrogen receptor (ER)-alpha and progesterone receptor (PgR) were investigated in two human breast cancer cell lines, ML-20 and KPL-1.

progesterone receptor

hypoxia


Input: Using transcranial magnetic stimulation (TMS), we investigated whether BDNF polymorphism influences cortical plastic changes in acute stroke.

TMS

acute stroke


Input: Taken together, these findings define the localization of SK1 in lung and provide clues as to how SK1 may play a role in normal lung physiology and the pathophysiology of lung cancer.

lung cancer


Input: Our findings suggest that common genetic variations in GSTM1, GSTT1, and GPX1 are not associated with bladder cancer risk overall and that well-known environmental risk factors, such as smoking and SH infection, do not interact with these genes to modulate the risk.

smoking


Input: The XFC group was also much better than the TPT group in improving pulmonary function, FoxP3 mRNA, IFN-gamma, IL-4, Th1/Th2, and IL-10 (P < 0. 05 or P < 0. 01).

pulmonary function


Input: Interestingly, the neonatal MFS mutations are clustered in one particular region of FBN1, possibly providing new insights into genotype-phenotype comparisons.

MFS

MFS


Input: We identified and then confirmed through replication two new genetic loci for SLE: a promoter-region allele associated with reduced expression of BLK and increased expression of C8orf13 and variants in the ITGAM-ITGAX region.

BLK

SLE

BLK

SLE


Input: SAMP1/YitFc (SAMP) mice develop chronic ileitis similar to human CD.

SAMP

ileitis


Input: We investigated the association of the Val66Met gene polymorphism in the Brain-Derived Neurotrophic Factor (BDNF) gene with aggressive behavior among Southern Han Chinese schizophrenia patients.

BDNF

aggressive behavior


Input: We performed a mutational analysis of SUMF1 in 20 MSD patients of different ethnic origin.

MSD

MSD


Input: During the acute-phase response the plasma concentration of AAT increases approximately 3-fold and this effect is mediated primarily by interleukin-6 (IL-6).

AAT

acute-phase response


Input: In contrast, mRNA expression of integrin GPVI and the integrin complexes GPIa/IIa, GPIIb/IIIa, GPIB/GPIX/GPV was significantly down-regulated and corresponding antibodies were detected in 7 of 11 profiled patients and in 11 of 19 aplastic anemia patients.

GPVI

aplastic anemia


Input: Remarkably, E-cadherin nuclear translocation and enhanced expression of active PS1 were found in a patient with colorectal signet-ring cell carcinoma.

signet-ring cell carcinoma


Input: Taken together, our results suggest a novel and critical role of TIP30 involved in HCC progression and aggressiveness.

HCC

aggressiveness


Input: BMPs can reduce bone mass by inducing osteoclastogenesis via the RANKL-OPG pathway, which is a critical regulator of osteoclasts by osteoblasts.

RANKL

bone mass


Input: Our data showed that overexpression of miR-122 in HCC cells induced by adenovirus expressing miR-122 could render cell sensitive to ADM or VCR.

HCC

adenovirus


Input: In parallel with the candidate gene approach, complete exome sequencing was used to confirm that SCARF2 was the gene responsible for VDEGS.

VDEGS

VDEGS


Input: The present study indicates that atopy is importantly influenced by interleukin 13 at age 1-8 yrs and by CD14 in interaction with pet exposure at ages 4 and 8 yrs.

interleukin 13

atopy


Input: Overexpression of KLK12 protein was significantly associated with lymph node metastasis (P = 0. 001), histological type (P < 0. 001) and tumor-node-metastasis stage (P = 0. 005), while no significant correlation was observed between expression of KLK12 protein and sex, age, depth of invasion, tumor size or lymphatic invasion.

metastasis


Input: BRCA1 contains several functional domains that directly or indirectly interact with a variety of proteins via protein-protein interaction; these include tumor suppressors (BRCA2, p53, Rb and ATM), oncogenes (c-Myc, casein kinase II and E2F), DNA damage repair proteins (RAD50 and RAD51), cell cycle regulators (cyclins and cyclin dependent kinases), transcriptional activators and repressors (RNA polymerase II, RHA, histone deacetylase complex and CtIP), DNA damage-sensing complex and mismatch repair proteins (BRCA1-Associated Surveillance Complex; BASC) and signal transducer and activator of transcription (STAT) among others Formation of foci containing BRCA1 by inherited mutations, or epigenetic mechanisms (promoter methylation) in sporadic cancers leads to a loss of DNA repair ability, disrupts the potential to form complexes with other proteins that are crucial for DNA repair pathways.

sporadic


Input: Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.

poikiloderma with neutropenia

poikiloderma with neutropenia


Input: Here we demonstrate that hypoxia/reoxygenation drives poorly invasive breast cancer cells toward a more aggressive phenotype by up-regulating LOX expression and catalytic activity.

LOX

hypoxia


Input: Thus, miRNAs such as miR-21, miR-125b, miR-155, miR-196, and miR-210 that are critical for the immune response or hypoxia are often overexpressed in cancers and leukemias.

hypoxia


Input: It was found that PACAP6-27 induced pancreatic edema, inflammatory cell infiltration, and elevation of serum amylase [(1464. 33 +/-265. 6)-(1692. 17 +/-312. 18)] IU/L vs (520. 8 +/-163. 27) IU/L of control, P < 0. 05); that PACAP6-27 aggravated vacuolization of pancreatic acinar cells in cerulein-induced pancreatitis with hemorrhage and fatty and parenchymal necrosis; and that the pathological changes of cerulein plus 100 microg/kg PACAP group were similar to those of sodium taurocholate-induced pancreatitis.

PACAP

necrosis


Input: Those with the rarer Jackson-Lawler Syndrome (MIM #167210; PC-2) lack oral involvement but have natal teeth and cutaneous cysts.

MIM

natal teeth


Input: Additionally, most sporadic colorectal tumors do not necessarily require following the widely accepted genetic model, because the three key genetic mutations, APC, K-ras, and p53, rarely occur simultaneously.

sporadic


Input: Furthermore, mice homozygous for a Lefty1 null allele manifest LR malformations and misexpress Lefty2.

malformations


Input: He was then given heparin and antithrombin III, and his DIC symptoms improved soon thereafter.

antithrombin III

DIC

antithrombin III

DIC


Input: In this study, the growth inhibitory effect of three CLA isomers (c9, t11-CLA, t9, t11-CLA and t10, c12-CLA) was investigated on MCF-7 breast cancer cells, as well as their effect on LXR target genes.

breast cancer


Input: We analyzed for PIK3CA and KRAS mutations and LINE-1 methylation by Pyrosequencing, microsatellite instability (MSI), and DNA methylation (epigenetic changes) in eight CpG island methylator phenotype (CIMP)-specific promoters [CACNA1G, CDKN2A (p16), CRABP1, IGF2, MLH1, NEUROG1, RUNX3, and SOCS1] by MethyLight (real-time PCR).

microsatellite instability


Input: Long-term antidepressant treatment restores clonidine' s effect on growth hormone secretion in a genetic animal model of depression.

growth hormone

depression

growth hormone

depression


Input: Cables-/-mice (n = 25) and the Cables +/+ littermates (n = 25) were treated with subcutaneous DMH injections over 20 weeks to initiate tumorigenesis.

DMH

tumorigenesis


Input: A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1).

KS

KS


Input: BRCA1 contains several functional domains that directly or indirectly interact with a variety of proteins via protein-protein interaction; these include tumor suppressors (BRCA2, p53, Rb and ATM), oncogenes (c-Myc, casein kinase II and E2F), DNA damage repair proteins (RAD50 and RAD51), cell cycle regulators (cyclins and cyclin dependent kinases), transcriptional activators and repressors (RNA polymerase II, RHA, histone deacetylase complex and CtIP), DNA damage-sensing complex and mismatch repair proteins (BRCA1-Associated Surveillance Complex; BASC) and signal transducer and activator of transcription (STAT) among others Formation of foci containing BRCA1 by inherited mutations, or epigenetic mechanisms (promoter methylation) in sporadic cancers leads to a loss of DNA repair ability, disrupts the potential to form complexes with other proteins that are crucial for DNA repair pathways.

sporadic


Input: Ewing' s sarcoma (ES) is a primary bone tumor characterized by a chromosomic translocation between the EWS gene and a member of the ETS gene family, mainly FLI1, which leads to an aberrant transcription factor EWS-FLI1 that promotes tumorigenicity.

EWS gene

translocation


Input: EZH2 and HDAC4 activation are associated with particular chromosome abnormalities: EZH2 activation with aberrations in genes from the TGF and phosphatidylinositol pathways and HDAC4 activation with aberrations in inflammatory and chemokine related genes.

chromosome abnormalities


Input: While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of HO (e. g., POH) from the non-progressive forms (osteoma cutis, AHO, and PHP1a/c).

GNAS

HO

GNAS

HO


Input: Collectively, these results indicate that FGF1 is a direct downstream target of WNT7A/& #946;-catenin signaling and this pathway has potential as a therapeutic target in ovarian cancer.

ovarian cancer

ovarian cancer


Input: In GABRA1, we found evidence of association with several of the drinking behavior phenotypes, including COGA alcohol dependence, history of blackouts, age at first drunkenness, and level of response to alcohol.

drinking behavior


Input: GSH and catalase activity are involved in mechanisms responsible for eliminating oxygen free radicals during the establishment of status epilepticus in the hippocampus.

catalase

status epilepticus

catalase

status epilepticus


Input: Here, we review the emerging salient concepts highlighting the pathways of neurodegeneration and the role of LAC in modulating the redox-dependent mechanisms responsible for the upregulation of vitagenes in brain that leads to the enhancement of stress tolerance in brain.

LAC

neurodegeneration


Input: These results identify a TEF family member as a major regulator of MSLN overexpression, a fundamental characteristic of pancreatic and other cancers, perhaps due to an upstream and highly frequent aberrant cellular activity.

TEF

cancers


Input: Retinal neurodegeneration was assessed by measuring glial fibrillar acidic protein (GFAP) and the apoptotic rate.

GFAP

neurodegeneration


Input: These results show that low levels of CDX2 accelerate colon tumorigenesis by reducing p27Kip1 levels.

tumorigenesis


Input: Furthermore, fluorescence in situ hybridization demonstrated that the translocation fused the PLAG1-RAD51L1 genes.

translocation


Input: After SPA for 1 or 6 days, neurogenic inflammation was induced by intravenous injection of capsaicin (90microg/kg) or substance P (SP; 3microg/kg).

substance P

neurogenic inflammation

substance P

neurogenic inflammation


Input: This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in K6a), confirming that laryngeal obstruction can occur in PC-1.

laryngeal obstruction


Input: Factor IXAlabama is a variant factor IX molecule responsible for a clinically moderate form of hemophilia B. Twenty-five kilobases (kb) of the variant gene, including seven exons coding for the structural protein, were cloned and characterized.

factor IX

hemophilia B

factor IX

hemophilia B


Input: Studies in neurobiology have uncovered a potential implication of CUX1 in cognitive disorders, neurodegeneration and obesity.

neurodegeneration


Input: At 6-7 years of age, the comparison of various factors was made between 31 LGA and 34 appropriate-for-gestational-age (AGA) children: fibrinogen, antithrombin III, protein C and S, fasting insulin, glucose, homeostasis assessment model of insulin resistance (HOMA-IR) index, adiponectin, leptin, visfatin, IGF-1, IGF-binding protein (IGFBP)-1, IGFBP-3, lipids, and the genetic factors V Leiden G1691A mutation, prothrombin 20210A/G polymorphism, and mutation in the enzyme 5, 10-methylenetetrahydrofolate-reductase gene (MTHFR-C677T).

antithrombin III

fibrinogen


Input: These data suggest that a defect in gp39 is the basis of X-linked HIM.

HIM

HIM


Input: Of 115 primary sporadic ovarian carcinomas, 39 (34%) had low BRCA1 protein and 49 (42%) had low BRCA2 expression.

sporadic


Input: In the villi with characteristic hypoxic/ischemic changes (HIC), including increased syncytial knots, infarction, or hypercapillarization, intense immunostaining for VEGF was detected in the media of blood vessels, and increased staining for KDR was demonstrated in the endothelial cells.

HIC

hypoxic


Input: Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.

Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome type IV


Input: The B-2 receptor antagonist HOE 140 (0. 1 mg/kg) prevented bradykinin-but not prostaglandin E2-induced thermal hyperaesthesia.

bradykinin

hyperaesthesia

bradykinin

hyperaesthesia


Input: These results suggest a possible functional role of CRP40 in the pathogenesis of schizophrenia.

schizophrenia

schizophrenia


Input: At both the protein and mRNA levels, MAOA and COMT are detected less often in PHEO compared with adrenal medulla, conversely to tyrosine hydroxylase, L-amino acid decarboxylase, and dopamine & #946;-hydroxylase, much more expressed in tumor tissue.

COMT

PHEO

COMT

PHEO


Input: This survey aims to provide an updated account of why IL-6 inhibitors are becoming a vital class of drugs that are potentially useful for inducing immune tolerance as a treatment for autoimmune diseases and transplant rejection.

transplant rejection


Input: In vitro, after the release of U87 cell lines from serum starvation, the expression of SYF2 was upregulated, as well as PCNA and cyclin D1.

cyclin D1

starvation


Input: These have mainly centered on possible deficiencies in monoamines, neurotrophins, the neuroendocrine system, c-AMP, cation channels as well as neuroimmune interactions and epigenetics, however the precise mechanism or mechanisms related to depression have yet to be elucidated.

AMP

depression

AMP

depression


Input: These studies identify a key role for Cck in the development and treatment of mania, and describe some of the molecular mechanisms by which lithium may act as an effective antimanic agent.

Cck

mania

Cck

mania


Input: Expression of cyclooxygenase-2 (COX2), an inflammatory mediator, and accumulation of the 42-amino acid form of beta-amyloid (Abeta42), a cause of neuronal dysfunction, were measured in autopsy brain tissues of cognitively and neurologically intact lifelong residents of cities having low (n: 9) or high (n: 10) levels of air pollution.

amyloid


Input: These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria.

renal glucosuria

renal glucosuria


Input: Somatostatin is a mediator of immune functions and has been used as an antineoplastic agent in animal models and human neoplasias.

Somatostatin

neoplasias

Somatostatin

neoplasias


Input: In contrast, knockdown of VILIP-1 inhibits the development of bone cancer pain via downregulation of P2X3 receptors and repression of DRG excitability in MRMT-1 rats.

DRG

cancer pain


Input: We have previously reported evidence that variation at GABA (A) receptor genes is associated with susceptibility to bipolar disorder with schizophrenia-like psychotic features (Research Diagnostic Criteria (RDC) schizoaffective disorder, bipolar type) with gene-wide significance at GABRB1, GABRA4, GABRB3, GABRA5, and GABRR3.

schizophrenia

schizophrenia


Input: In this study, we examined mismatch repair (MMR) protein expression (MLH1, MSH2, MSH6, and PMS2) in 60 endocervical adenocarcinomas, including variants (minimal deviation adenocarcinoma, mesonephric adenocarcinoma, adenosquamous carcinoma, clear cell carcinoma) and a series of well-characterized lower-uterine segment carcinomas of known endocervical or endometrial origin (n = 41).

clear cell carcinoma


Input: Four polymorphisms aiming at tagging the CTSL2 locus were genotyped in 421 T1D families, and subsequently in 861 rheumatoid arthritis patients, 530 juvenile idiopathic arthritis patients, and 559 controls of Norwegian origin.

juvenile idiopathic arthritis


Input: Two genes (Ercc1 and Mcm5) showed a highly significant correlation with AUD-induced decreases in the volume of the left parietal supramarginal gyrus and neuropsychological measures.

AUD

AUD


Input: Women with an APOE-epsilon4 who took ERT did not have an increased risk of AD, but in women with a history of stroke ERT was a deleterious effect modifier.

ERT

stroke


Input: The data from the case control suggest that polymorphisms of the promoter region of the CCKAR gene do not play a major role in the pathogenesis of alcohol withdrawal symptoms or alcoholic liver injury.

CCKAR gene

withdrawal symptoms


Input: In addition, Cox6a1-null mice showed significantly reduced COX activity and neurogenic muscular atrophy leading to a difficulty in walking.

COX

difficulty in walking


Input: MAGMAS, also referred to as PAM16 (presequence translocase-associated motor 16), is a mitochondria-associated protein involved in preprotein translocation into the matrix.

presequence translocase-associated motor 16

translocation


Input: Bace1 (-/-) mice display significantly lower body weight, lower plasma insulin concentrations, but normal glucose tolerance and insulin sensitivity.

body weight


Input: Congenital nephrogenic diabetes insipidus (NDI) is, in most instances, a rare X-linked recessive renal disorder (MIM 304800) characterized by the clinical symptoms of polyuria, polydipsia, and dehydration.

MIM

polydipsia


Input: The majority of the mutations were truncating, confirming that the absence of full-length ATM protein is the most common molecular basis of AT.

ATM

AT

ATM

AT


Input: Herein, the expression of estrogen receptor alpha (ERalpha), estrogen receptor beta (ER beta) and progesterone receptor (PR) was examined in mammary gland carcinomas induced by PhIP in female Sprague-Dawley rats.

estrogen receptor beta

carcinomas

estrogen receptor beta

carcinomas


Input: Fifty-eight sporadic colorectal tumors that had been previously evaluated for genomic instability were analyzed for p53 mutations.

sporadic


Input: Among the upregulated genes that were validated by quantitative PCR and western blotting we recognized several interferon-stimulated genes (ISGs: IFIT1, IFIT2, IFIT3, IFI6, IRF7, ISG15, HLA-DRA, HLA-DRB, TLR3 and CIITA), as well as genes involved in intercellular adhesion and matrix remodeling.

adhesion


Input: In vivo experimental studies revealed that renal L-FABP gene expression was up-regulated by various stresses that cause tubulointerstitial damage, such as massive proteinuria, hyperglycemia, hypertension, ischemia and toxins, and that urinary excretion of L-FABP was increased.

L-FABP

proteinuria


Input: As CF is characterized by mucus inspissation, airway infection, and severe inflammation, we tested the hypothesis that inflammation and especially two cytokines involved in the Th1/Th2 inflammatory response, interleukin 4 (IL-4) and TNFalpha, could inhibit gene transfer efficiency using a model of human CF tracheal gland cells (CF-KM4) and Lipofectamine reagent as a transfection reagent.

inflammation


Input: A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p & lt; 0. 05), EOTAXIN (p & lt; 0. 01), RANTES (p & lt; 0. 001), and in MM patients: IL-12 (p40), IL-3, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p & lt; 0. 001).

NGF

MM

NGF

MM


Input: In this study we attempted to confirm the increased incidence of the C4B null allele in autism and investigated the presence of a C4B null allele in two other childhood disorders, attention-deficit hyperactivity disorder and dyslexia (reading disability).

dyslexia


Input: We used six human uveal melanoma tumor-derived cell lines and normal uveal melanocytes to characterize the SCF/c-Kit system and to assess its specific role in transformation.

SCF

uveal melanoma


Input: Among behavioral phenotypes previously reported for NK1R mice on a mixed background, an analgesic-like phenotype was maintained on the C57BL/6 background used here, while KO: s and WT: s did not differ in anxiety-and depression-related behaviors.

depression

depression


Input: Mutations in FGFR2 were identified in 25 Crouzon and 5 Pfeiffer syndrome patients, whereas no sequence alterations were found in the remaining patients, even after screening of the relevant parts of FGFR1, FGFR3, and TWIST.

Pfeiffer syndrome

Pfeiffer syndrome


Input: In conclusion, our results demonstrate that TMP inhibits the development of inflammation and tissue injury associated with spinal cord contusion in rats which may improve the rats' hindlimb function.

TMP

inflammation


Input: Present data suggest that an insertion/deletion polymorphism in the promoter region of the NQO2 gene plays an important role in the pathogenesis of alcoholism and alcohol withdrawal symptoms.

alcoholism

alcoholism


Input: The 13 most frequent mutations affecting BRAF, EGFR, PIK3CA, and KRAS are not involved in sporadic vestibular schwannoma development.

EGFR

sporadic


Input: In this study HER3 expression was evaluated by RT-PCR analysis and immunohistochemistry from different tissue specimens of cutaneous tumors like nevi, primary malignant melanomas, basal cell carcinoma, squamous cell carcinoma and malignant melanoma metastases and normal skin samples and graded into weak, moderate and strong expression.

nevi


Input: Mutational screening of TITF1 is important in cases of sporadic or dominant juvenile-onset ataxia, with mild chorea where no other cause is found, particularly if pituitary abnormalities are seen on imaging.

sporadic


Input: Treatment with anti-NGF significantly reduced allergic airway resistance and inflammation, up-regulated IFNγ, IL-10, TGFβ, T-bet, and Foxp3 expression, increased Th1 and Tregs, but down-regulated IL-4, TNFα, IL-17A, RORγT and GATA-3 expression and reduced Th2 and Th17 cells, accompanied by increased serum IgG2a.

inflammation


Input: Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.

RGR

retinitis pigmentosa

RGR

retinitis pigmentosa


Input: So far, the function of KLLN has never been studied in tumorigenesis.

KLLN

tumorigenesis


Input: One hundred ten cervical specimens, which were collected from patients with various kinds of uterine cervix disease that was subsequently diagnosed as chronic cervicitis and with examination results negative for intraepithelial lesion or malignancy (NILM, n = 23), mild dysplasia (cervical intraepithelial neoplasia type 1 [CIN1], n = 37), moderate dysplasia (CIN2, n = 12), severe dysplasia (CIN3, n = 10), and squamous cell carcinoma (SCA, n = 28) confirmed by histologic diagnosis, were analyzed for the proportion of abnormal cells with TERC gain using a commercially available 2-color fluorescence in situ hybridization (FISH) probe.

FISH

squamous cell carcinoma


Input: Coadministration of IGF-I with IGFBP-1 neutralized the stimulating effects of IGF-I on body length and weight as well as on the femoral muscles and testes.

IGF-I

weight


Input: After 8 weeks of therapy, final volume and weight of DU-145 tumors in mice treated with MZ-5-156 were significantly (P < 0. 01) decreased compared with controls, and serum IGF-I showed a significant reduction.

IGF-I

weight


Input: In a previous report, we proposed that analysis of 53BP1 expression by immunofluorescence could be a useful tool in estimating the level of genomic instability (GIN), as well as the malignant potential, of thyroid tumours.

genomic instability


Input: The accumulation of damaged or postsynthetically modified proteins and dysregulation of inflammatory responses and angiogenesis in the retina/RPE are thought be etiologically related to formation of drusen and choroidal neovascularization (CNV), hallmarks of age-related macular degeneration (AMD).

RPE

choroidal neovascularization


Input: Taken together, these data suggest that DEPTOR has a tumor suppressive activity against pancreatic cancer cells, and its loss of expression may contribute to pancreatic tumorigenesis.

DEPTOR

tumorigenesis


Input: Twenty-four of the differentially regulated genes were previously identified by genome-wide association studies of alcohol use disorders; this raises the potential interest of genes not normally associated with alcoholism, such as suppression of tumorigenicity 18 (ST18), BCL2-associated athanogene 3 (BAG3), and von Willebrand factor (VWF).

von Willebrand factor

alcoholism

von Willebrand factor

alcoholism


Input: The possible hint of linkage in families of JME patients emphasizes the need for further studies to determine whether a recessively inherited gene variant within the GABA (A) alpha5, beta3 and gamma3 subunit gene cluster contributes to the pathogenesis of " idiopathic " generalized seizures and associated EEG abnormalities in a proportion of families.

generalized seizures


Input: We determined the in vitro effects of hypoxia on Cyr61 and CTGF expression in colorectal cancer cell lines.

CTGF

hypoxia


Input: We performed a subtelomere FISH study of 50 unrelated children ascertained by a checklist that evaluates MR or developmental delay, dysmorphism, growth defect, and abnormal pedigree and found 10 bona fide causal rearrangements (detection rate 20%, 95% CI 10-33. 7%).

FISH

developmental delay


Input: Together with our prior studies on renal neoplasms and normal kidney, these studies suggested that the gene for placental S100 (S100P) is specifically expressed in benign and malignant urothelial cells.

renal neoplasms


Input: Further, antioxidant NAC, as well as PARP-1 inhibitor 3AB, not only alleviated the overproduction of ROS caused by DPT, but also reversed the above-mentioned biochemical events, maintained mitochondrial membrane potential and rescued glioma cells death.

NAC

glioma


Input: We found that the plasma HGF level in LEC rats rose markedly during the fulminant hepatitis phase, fell during the phase of chronic/cholangiofibrosis, and fluctuated during the hepatoma phase.

LEC

fulminant hepatitis


Input: A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p & lt; 0. 05), EOTAXIN (p & lt; 0. 01), RANTES (p & lt; 0. 001), and in MM patients: IL-12 (p40), IL-3, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p & lt; 0. 001).

IL-1 alpha

MM

IL-1 alpha

MM


Input: In this study we demonstrate that IR markedly enhanced the secretion by mouse and human breast cancer cells of CXCL16, a chemokine that binds to CXCR6 on Th1 and activated CD8 effector T cells, and plays an important role in their recruitment to sites of inflammation.

inflammation


Input: IL-1beta, TNF-alpha, and systemic inflammation induced by casein injection also inhibited expression of adenosine triphosphate-binding cassette transporter A1 (ABCA1), peroxisome proliferator-activated receptor-alpha (PPAR-alpha), and liver X receptor-alpha (LXRalpha).

liver X receptor-alpha

inflammation


Input: The in vivo relationship of AR and HNE was explored by treating human GCA temporal artery-severe combined immunodeficiency (SCID) mouse chimeras with the AR inhibitors Sorbinil and Zopolrestat.

HNE

severe combined immunodeficiency


Input: Bcl-2 heterozygous mice (B6; 129S2-Bcl-2 & lt; tm1Sjk & gt;/J) were tested in models of depression, mania and anxiety.

depression

depression


Input: This variant strongly associates with insulin resistance and, in subjects with the Trp64Arg ADRB3 variant, an increased BMI, suggesting an interaction between these two common gene variants.

insulin resistance


Input: ANXA2 was rarely detected in either normal or chronic hepatitis liver tissues, whereas it was overexpressed at both the transcriptional and translational levels in tumorous and non-tumorous regions of HCC.

HCC

chronic hepatitis


Input: These results are concomitant with reduced translocation of NF-κB into the nucleus and increased expression of the tissue inhibitor of MMP1 (TIMP1) and CII in chondrocytes.

translocation


Input: EMSY links the BRCA2 pathway to sporadic breast/ovarian cancer.

sporadic


Input: We examined the association of the ICAM-1 K469E gene variant and plasma sICAM-1 with coronary artery calcification (CAC) in 632 asymptomatic subjects, recruited on the basis of a family history of premature cardiovascular disease.

CAC

coronary artery calcification


Input: Overall, our findings indicate that IL7R mutational activation is involved in human T-cell leukemogenesis, paving the way for therapeutic targeting of IL-7R-mediated signaling in T-ALL.

T-ALL

T-ALL


Input: Microglial C5aR (CD88) expression correlates with amyloid-beta deposition in murine models of Alzheimer' s disease.

amyloid


Input: The relationship between local treatment and tumour regression was supported by replacement of tumour cells by inflammatory cells in regressing lesions and marked induction of T and natural killer cell derived cytokines (IL-2, IL-4, IFNg...) in post-therapeutic lesions analysed 28 days after the start of Vero-IL-2 administration.

regression


Input: Immunohistochemically, the cyst-lining epithelia were almost negative for mucin core protein (MUC) 1, MUC2, and MUC6, and showed only focal staining for MUC5AC.

cyst


Input: The findings suggest that breast cancer due to BRCA1, has a different natural history to BRCA2 or apparently sporadic disease, which may have implications for screening and management.

sporadic


Input: Aggressive BT474 and SKBR3 cancer cells where ErbB2 is overexpressed, MCF10A immortalised ductal cells and non-invasive MCF-7 cancer cells which express low levels of ErbB2, both in their naive state and when forced to mimic aggressive behaviour, were used.

aggressive behaviour


Input: Given its survival-promoting effects on cultured neurons, exogenous FGF2 was tested in several animal models of stroke and excitotoxic damage, in which it consistently proved protective against neuronal loss.

stroke


Input: We found that the PGC-1alpha and/or PGC-1beta expression improved mitochondrial respiration in cells harboring a complex III or IV deficiency as well as in transmitochondrial cybrids harboring mitochondrial encephalomyopathy lactic acidosis and stroke A3243G tRNA ((Leu) UUR) gene mutation.

lactic acidosis


Input: In contrast with SDHD mutation carriers (PGL-1) who have more frequent multifocal paragangliomas, SDHB mutation carriers (PGL-4) are more likely to develop malignant disease and possibly extraparaganglial neoplasias, including renal cell and thyroid carcinomas.

paragangliomas

paragangliomas


Input: Perhaps counterintuitively—considering Knudson' s two-hit hypothesis—a large shared deletion was followed by different truncating DEPDC5 mutations in four clonally related leiomyomas.

hit


Input: Thus, NEFL mRNA is ectopically expressed in breast malignancies and could be a potential prognostic factor for early-stage breast cancer patients.

NEFL

early-stage breast cancer


Input: The increased number of CD5 + B-cells in some human autoimmune diseases, the frequent commitment of CD5 + B-cells to the production of natural autoantibodies, and the apparent involvement of these cells in the pathogenesis of the autoimmune hemolytic anemia (AIHA) in certain mouse models suggests a causal relationship between the CD5 + chronic lymphocytic leukemia (CLL) B-cell and the AIHA which frequently develops in this malignant disorder.

autoimmune diseases


Input: Attention-deficit/hyperactivity disorder, ADHD [MIM 126452], is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness, and/or inattentiveness.

MIM

childhood onset


Input: Our findings identify PROC on 2q14 as a novel candidate for childhood asthma and replicate the genetic association for 17q21 locus.

PROC

childhood asthma


Input: The deficiency of the DNA mismatch repair (MMR) system is involved in tumorigenesis of either familial or sporadic colorectal cancers showing microsatellite instability (MSI).

MMR

tumorigenesis


Input: In this study, we compared the usefulness of urinary vanin-1 with other newly developed biomarkers [urinary monocyte chemoattractant protein-1 (MCP-1), kidney injury molecule-1 (Kim-1) and N-acetyl-beta-D-glucosaminidase (NAG)] for the detection of renal complications in rats with experimental colitis.

NAG

colitis


Input: Beta-2-microglobulin is an androgen-regulated secreted protein elevated in serum of patients with advanced prostate cancer.

prostate cancer

prostate cancer


Input: Methylation of the p16 promoter was detected in HCC (72. 7%, 16/22) and also in cirrhosis (29. 4%, 5/17) and chronic hepatitis (23. 5%, 4/17), all of which were positive for hepatitis B or C virus infections.

HCC

chronic hepatitis


Input: SLSJ-COX has a different spectrum of associated abnormalities, acidotic crises being particularly suggestive of LRPPRC related Leigh syndrome.

LRPPRC

abnormalities


Input: Culture of U-CH1 cells in either hypoxia or in the presence of recombinant CCN2 peptide promoted progenitor cell-like characteristics specific to the notochordal tissue of origin.

hypoxia


Input: In summary, we have, for the first time, demonstrated that PI3K/Akt pathway regulates the CSE expression via Sp1, which is particularly important to understand the effect of PI3K/Akt and CSE on the tumorigenesis.

CSE

tumorigenesis


Input: Here we have generated K562 cells (derived from CML in blast crisis) constitutively expressing a dominant negative form of NUMB (dnNUMB).

NUMB

blast crisis


Input: These data do not support the correlation between expanded RED products (RED fragments & gt; 120) and expanded alleles at ERDA1 in trans-generational pairs with BPAD.

BPAD

BPAD


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

calretinin

malignant mesothelioma

calretinin

malignant mesothelioma


Input: MEN1 tumorigenesis in the pituitary and pancreatic islet requires Cdk4 but not Cdk2.

tumorigenesis


Input: Cyr61 is a secreted, cysteine-rich, heparin-binding protein that mediates diverse functions including extracellular matrix formation, differentiation, cell proliferation, adhesion, migration, survival, as well as angiogenesis and tumorigenesis.

adhesion


Input: CD276 and the alternative checkpoint inhibition PVR/NECTIN2/CD226/TIGIT pathway emerged as relevant to PC checkpoint inhibition target development.

PVR

PC

PVR

PC


Input: Similar to PAR-1 deficiency, hematopoietic cell TF deficiency was associated with reduced inflammation and reduced steatosis in livers of low-density lipoprotein receptor-deficient mice fed a Western diet.

steatosis

steatosis


Input: Dynamic alterations in myoplasmic Ca2 + in malignant hyperthermia and central core disease.

malignant hyperthermia


Input: We describe a 0. 73 Mb duplication of chromosome 22q11. 21 between LCR-B and LCR-D and a missense mutation in a conserved C2H2 zinc finger domain of SALL4 in a cognitively normal patient with multiple skeletal anomalies including radioulnar synostosis, thumb aplasia, butterfly vertebrae, rib abnormalities, and hypoplasia of the humeral and femoral epiphyses.

multiple skeletal anomalies


Input: IRP1 was distributed between cytosolic and membrane-bound fractions, and in both cells hypoxia increased both the amount and IRE-binding activity of the membrane-associated IRP1 fraction.

hypoxia


Input: Concomitant with blood pressure increase and cardiac hypertrophy in spontaneously hypertensive rats, there was a constitutive decrease in the ratio of cardiac expression of ATRAP to Ang II type 1 receptor.

ATRAP

cardiac hypertrophy


Input: Heterozygous brain-derived neurotrophic factor (BDNF) (+/-) mice display abnormalities in central serotonergic neurotransmission, develop decrements in serotonergic innervation of the forebrain, and exhibit enhanced intermale aggressiveness.

BDNF

aggressiveness


Input: Diabetic nephropathy, clinically defined by overt albuminuria, hypertension and declining GFR, affects 25-35% of IDDM patients.

GFR

albuminuria


Input: The spectrum of podoplanin expression in encapsulating peritoneal sclerosis.

podoplanin

peritoneal sclerosis


Input: Emerging evidence implicates a novel family of Jumonji C catalytic domain proteins as mediators of hypoxic gene expression.

Jumonji

hypoxic


Input: Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

HSAN-IV

HSAN-IV


Input: Additionally, unmethylation of the CTCF-binding site could lead to inactivation of the paternal IGF2 gene, and be linked to decreased embryo quality and birth weight, often associated with ART.

CTCF

birth weight


Input: We conclude that the FSHR haplotype does not associate with different serum FSH levels but it is differently distributed in proven fathers and infertile men.

FSHR

infertile


Input: Adenovirus-mediated expression of a dominant negative Ku70 fragment radiosensitizes human tumor cells under aerobic and hypoxic conditions.

hypoxic


Input: In this review, we summarize the role of LTCCs for human diseases caused by genetic Ca2 + channel defects (channelopathies).

channelopathies


Input: We have assessed TNF (-/-), TNF-R1 (-/-) and TNF-R2 (-/-) mice against C57BL/6 wild-type (WT) mice from 12 weeks of age in order to evaluate measures of spatial memory and learning in the Barnes maze (BM) and Y-maze, as well as other behaviours such as exploration, social interaction, anxiety and depression-like behaviour in a battery of tests.

depression

depression


Input: Our findings indicate that ulnar-mammary syndrome shows a wide range of phenotypes even within the same family and provide further evidence that haploinsufficiency of TBX3 is the disease-causing mechanism.

ulnar-mammary syndrome

ulnar-mammary syndrome


Input: TLR-4 Asp299Gly and Thr399Ile polymorphisms were investigated in 171 Italian patients with sporadic gastric cancer and in 151 controls.

sporadic


Input: In addition, we demonstrated that myeloid differentiation primary response gene 88 (MyD88) lies upstream of BLT2 in LPS-potentiated invasiveness and that this' MyD88-BLT2' cascade mediates activation of NF-κB and the synthesis of IL-6 and IL-8, which are critical for the invasiveness and aggression of breast cancer cells.

aggression


Input: These findings suggest that overexpression of the nm23 H1/NDPKA gene occurs frequently in adeno-carcinomas of the prostate and may be an early event in prostate cancer tumorigenesis.

NDPKA

tumorigenesis


Input: Comparing the glucose disposals of HEC and AT-HEC, no difference in insulin sensitivity was found.

HEC

insulin sensitivity


Input: In studies with the mTOR inhibitor rapamycin, we have elucidated the stimulatory role of a mTOR-HIF-1α-VEGF axis in allergic response.

VEGF

allergic response


Input: We found that VPA can inhibit neuritic plaque formation and improve the learning and memory in the prenatal hypoxic APP/PS1 transgenic mice.

APP

hypoxic


Input: Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.

PORCN

focal dermal hypoplasia

PORCN

focal dermal hypoplasia


Input: In stepwise regression analysis CD34 +/OCN + cells, age, systolic blood pressure and heart rate were significant predictors of aPWV (Model R = 0. 62, p < 0. 001), independent of cardiovascular risk factors, parathyroid hormone levels and osteoporotic status.

heart rate


Input: CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.

melanoma

melanoma


Input: Altered expression of T cell immunoglobulin-mucin (TIM) molecules in bronchoalveolar lavage CD4 + T cells in sarcoidosis.

sarcoidosis


Input: These data suggest that impairment of cell cycle regulated proteolysis of cyclin E may be linked to carcinogenesis by promoting genomic instability.

cyclin E

genomic instability


Input: The aim of this study was to examine whether nuclear HMGB1 plays a role in the development of cardiac hypertrophy induced by pressure overload.

cardiac hypertrophy


Input: We therefore hypothesized SH3BP2 and its putative downstream effector nuclear factor of activated T cells c1 isoform (NFATc1) are highly expressed in sporadic nonsyndromic giant cell lesions and associated with somatic SH3BP2 mutations.

sporadic


Input: The number of migrating and invading gastric cancer cells in hypoxia was significantly decreased by LOX knockdown.

LOX

hypoxia


Input: In summary, colon cancer cells may up-regulate Notch-1 as a protective mechanism in response to chemotherapy.

colon cancer

colon cancer


Input: These results advance our understanding of the role of lncRNA-AK058003 as a regulator of hypoxia signaling, and this newly identified hypoxia/lncRNA-AK058003/SNCG pathway may help in the development of new therapeutics.

SNCG

hypoxia


Input: The hepatocyte growth factor (HGF)/MET pathway plays a critical role in the development of the nervous system and has been implicated in medulloblastoma pathogenesis.

MET

nervous system


Input: The neurofibromatosis 2 locus (NF2) is inactivated through mutation and loss of heterozygosity (LOH) in 40-65% of all sporadic meningiomas, while the role of the p53 tumor suppression pathway in meningioma initiation and progression is still unclear.

sporadic


Input: In this study, we performed chromogenic in situ hybridization (CISH) and immunohistochemistry to evaluate for NF2 gene deletion in a group of sporadic meningiomas, schwannomas, and ependymomas.

NF2 gene

sporadic


Input: Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

glycogen storage disease type Ib

glycogen storage disease type Ib


Input: When formulated with a TLR4L-containing adjuvant (GLA-SE), 73f stimulated a strong and pluripotent Th1 response that inhibited M. leprae-induced inflammation in mice.

inflammation


Input: We have determined the protein (by ELISA method) and mRNA expression (using qPCR) of TLR3 and TLR4 in the postmortem brain (dorsolateral prefrontal cortex [DLPFC]) of 22 depressed suicide victims, 11 non-depressed suicide victims, 12 depressed non-suicide subjects and 20 normal control subjects.

suicide


Input: Taken together, our data provide proof-of-concept that miR-21 overexpression within MM-microenviroment plays a crucial role in bone resorption/apposition balance, supporting the design of innovative miR-21 inhibition-based strategies for MM-related BD.

bone resorption


Input: OncoPrint analysis was used to reveal the alteration of SOX2 and FOXA1 genes in breast invasive carcinoma cases and lung squamous cell carcinoma cases from the Cancer Genome Atlas (TCGA) data portal.

invasive carcinoma


Input: We hypothesize that GLRA4 is involved in intellectual disability, behavioral problems and craniofacial anomalies as the second gene identified for X-linked syndromic intellectual disability at Xq22. 2.

behavioral problems


Input: Here we show that KIAA1199, a deafness gene of unknown function, plays a central role in HA binding and depolymerization that is independent of CD44 and HYAL enzymes.

deafness


Input: The expression of RUNX3 mRNA and miR-532-5p (microRNA) was assessed in melanoma lines and in primary and metastatic melanoma tumors.

metastatic melanoma


Input: These results suggest that SLC39A6 has an important role in the prognosis of ESCC and may be a potential therapeutic target.

ESCC

ESCC


Input: Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.

GNPTG

mucolipidosis III gamma

GNPTG

mucolipidosis III gamma


Input: pRb2/p130 cytoplasmic delocalization can lead to cell cycle deregulation, but considering the emerging involvement of pRb2/p130 in other key cellular processes, it could contribute to gastric tumorigenesis also through other mechanisms.

tumorigenesis


Input: Although alcohol-related disorders (ARD) have been shown to be accompanied by comorbid depressive and anxiety disorders, and alcohol metabolic enzyme genes, ADH1B and ALDH2 polymorphisms, have been associated with an increased risk of ARD, no studies have been conducted to evaluate the associations between these genetic polymorphisms and anxiety or depression.

ARD

depression


Input: The p53 tumor suppressor gene has been implicated in many inherited and sporadic forms of malignancies in humans.

p53 tumor suppressor gene

sporadic


Input: These results combined indicate that PSA facilitates tumor invasion of glioma in the brain, and that NCAM-NCAM interaction is likely attenuated in the PSA-mediated tumor invasion.

NCAM

glioma


Input: To elucidate possible genetic predisposition for inter-individual differences in asparaginase hypersensitivity, we studied single nucleotide polymorphisms (SNPs) in the GRIA1 gene in 146 pediatric patients treated with l-asparaginase.

GRIA1 gene

hypersensitivity


Input: To clarify the role of FAF1 in human cancer, a number of tumors from different organs were screened for expression of the protein, and it was only found reduced in gastric carcinoma tissue.

cancer


Input: Ig lambda and heavy chain gene usage in early untreated systemic lupus erythematosus suggests intensive B cell stimulation.

heavy chain

systemic lupus erythematosus


Input: Another emerging research topic is in the designation of genetic markers for specific cirrhosis-related complications, such as spontaneous bacterial peritonitis (NOD2) and hepatic encephalopathy (glutaminase), of potential future relevance in prioritizing patients for preemptive treatment strategies.

hepatic encephalopathy


Input: Using a two-stage case-control design, we searched for pairwise interactions between cigarette smoking and alcohol intake respectively with 9 single nucleotide polymorphisms (SNPs) at ERAP1, PTTG1, CSMD1, GJB2, SERPINB8, ZNF816A and TNIP1/ANXA6 that have been associated with risk for psoriasis in 7, 223 subjects.

alcohol intake


Input: We propose that expression of abnormal GPIX prevents stable assembly of the GPIb/IX complex, causing BSS in the doubly heterozygous individuals in this family.

GPIX

BSS

GPIX

BSS


Input: Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Schimke immuno-osseous dysplasia

Schimke immuno-osseous dysplasia


Input: In the present review we discuss changes in phosphorylation of the thick filament protein myosin binding protein C (cMyBP-C) reported in failing myocardium, with emphasis on phosphorylation changes observed in familial hypertrophic cardiomyopathy caused by mutations in MYBPC3.

protein C

familial hypertrophic cardiomyopathy


Input: Numerous predisposing risk factors can be both inherited and acquired, including cardiac disease, vascular abnormalities, infectious diseases, collagen tissue diseases, inborn errors of metabolism, anticardiolipin antibody, lupus anticoagulant, deficiencies of protein C, protein S, antithrombin, or plasminogen, and prothrombotic mutations.

protein S

inborn errors of metabolism


Input: In capsaicin-induced synovitis, the increased endothelial cell proliferation index was partially blocked by administration of NK₁ or CGRP antagonists individually and was reduced to the level of saline controls by coadministration of both receptor antagonists.

CGRP

synovitis


Input: Three of eight traits (HDL-C (rhoE =-0. 32), ln triglycerides (rhoE = 0. 33), and fibrinogen (rhoE = 0. 20)) displayed significant environmental correlations with diabetes status.

rhoE

fibrinogen


Input: Among all pooled never smokers (588 cases and 816 controls), TNF rs1799964 was inversely associated with smoking-related cancer (CC vs. CT + TT aOR: 0. 36, 95% CI: 0. 17-0. 77).

TNF

smoking


Input: The Aipl1-/-mouse has no functional Aipl1 and has a very rapid retinal degeneration.

retinal degeneration


Input: An increase in the protein level of the 3 kinases was found, with respect to normal human thyrocytes (HTU5), in the human cell lines derived from follicular (FTC-133), papillary (B-CPAP) and anaplastic (8305C) thyroid carcinomas, but not in cells derived from a follicular adenoma (HTU42).

CPAP

carcinomas


Input: The discovery of a very common silent polymorphism at codon 130 of GLUT 4 allowed examination of the association of this locus with Type 2 diabetes using allele-specific oligonucleotide hybridisation in a subset of the Welsh subjects. (ABSTRACT TRUNCATED AT 250 WORDS)

GLUT 4

Type 2 diabetes

GLUT 4

Type 2 diabetes


Input: Pharmacological inhibition of Pin1 also preserved mitochondrial integrity, nitric oxide availability and endothelial expression of adhesion molecules.

adhesion


Input: A constitutively active dioxin/aryl hydrocarbon receptor induces stomach tumors.

aryl hydrocarbon receptor

stomach tumors

aryl hydrocarbon receptor

stomach tumors


Input: OVOL2 was also expressed in pilomatricoma, with only partial expression of OVOL1.

pilomatricoma

pilomatricoma


Input: To better assess the implication of the EDAR gene in HED, we screened for mutations in 37 unrelated HED families or sporadic cases with no detected mutations in the ED1 gene.

EDAR gene

sporadic


Input: In addition, the relative increase in smoking risk in NAT2 slo acetylators increases with smoking intensity.

smoking


Input: Pathogenesis associated with a restrictive cardiomyopathy mutant in cardiac troponin T is due to reduced protein stability and greatly increased myofilament Ca2 + sensitivity.

restrictive cardiomyopathy


Input: We then assessed the predictivity of serological Fabp3 for SKM necrosis in short duration toxicology studies.

necrosis

necrosis


Input: Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of familial amyloid polyneuropathy.

FAF

familial amyloid polyneuropathy


Input: In nephrogenic diabetes insipidus, the kidney is unable to concentrate urine despite normal or elevated concentrations of the antidiuretic hormone arginine vasopressin (AVP).

AVP

unable to concentrate


Input: The cell death-inducing DFFA (DNA fragmentation factor-alpha)-like effector A (CIDEA) gene is implicated as an important regulator of body weight in mice and humans and is therefore a candidate gene for human obesity.

DFFA

body weight


Input: The authors investigated whether HFE gene polymorphisms, linked to hemochromatosis, are associated with ALS using two independent populations of patients with sporadic ALS and controls (totaling 379 patients and 400 controls).

HFE gene

sporadic


Input: However, little is known about the role of HIF-1 in mood disorder.

mood disorder

mood disorder


Input: ], or, alternatively, clinically confirmed AID, systemic-onset JIA (SoJIA) and periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome with unknown genetic background.

AID

aphthous stomatitis


Input: Alterations in the signaling pathways of epidermal growth factor receptors (HERs) are associated with tumor aggressiveness.

epidermal growth factor

aggressiveness


Input: Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).

GALNS

MPS IVA

GALNS

MPS IVA


Input: Our results can suggest that neuroprotective effects of vitamin C in adult rats can be the result of reduced lipid peroxidation levels and increase of catalase activity after seizures and status epilepticus induced by pilocarpine.

catalase

status epilepticus

catalase

status epilepticus


Input: Farnesyltransferase inhibitor tipifarnib inhibits Rheb prenylation and stabilizes Bax in acute myelogenous leukemia cells.

Rheb

acute myelogenous leukemia


Input: Mutational analysis of the HIF binding site within the ITGB1 promoter resulted in a significant loss of ITGB1 hypoxia-inducibility.

hypoxia


Input: Finding germline PTEN mutations in patients with BRRS, PS, and PSL suggests equivalent risks of developing malignancy as in CS with implications for medical management.

PTEN

PS

PTEN

PS


Input: In contrast, induction of the rat HSP70/chloramphenicol acetyltransferase constructs by hypoxia is only detectable when both HSEs are present.

hypoxia


Input: In addition, since low pIGF-IR expression was found to correlate with aggressive human thyroid carcinoma, it also suggests that IGF-IR may not be needed for progression of anaplastic thyroid carcinoma possibly because other cell signaling pathways are activated, obviating the need for IGF-IR signaling.

IGF

anaplastic thyroid carcinoma


Input: SLC26A4 mutations have also been identified in patients exhibiting isolated sensorineural hearing loss without apparent thyroid abnormality (nonsyndromic enlargement of the vestibular aqueduct; nonsyndromic EVA).

EVA

enlargement


Input: The results illustrate downregulation of proteins involved in the endoplasmic reticulum stress response (HYOU1, HSPA5, PDIA3, and P4HB) and Nrf2-ARE signaling (NQO1 and HMOX1) in SCA17 lymphoblastoid cells.


Input: Blood was taken from the proband and his parents, genomic DNA was isolated and some candidate genes for cataract (CRYAA, CRYBB2, GJA8) or macular hypoplasia (OA1, P) or both (PAX6) were analyzed.

macular hypoplasia


Input: Progesterone-regulated genes, including mitogen-inducible gene 6 (MIG6), leukemia inhibitory factor (LIF), GRB2-associated binding protein 1 (GAB1), S100P, and claudin-4 were significantly lower in PCOS endometrium; whereas cell proliferation genes, such as Anillin and cyclin B1, were up-regulated.

Anillin

PCOS

Anillin

PCOS


Input: We found that, unlike sporadic colorectal cancer and control patients, patients with CAC show activated VEGFR2 on intestinal epithelial cells (IECs).

sporadic


Input: Approximately 120 distinct missense variants have been identified in the BRCA1 BRCT through breast cancer screening, and several of these have been linked to an increased cancer risk.

breast cancer

breast cancer


Input: The final diagnosis was revised to rare subtype of MCL with CCND2 translocation and intensive regimens were employed.

translocation


Input: In this study, we exposed wild-type and genetically engineered mif (-/-) mice to 20 Gy single-fraction thoracic radiation to investigate the age-related role of MIF in murine RILI (mice were aged 8 wk, 8 mo, or 16 mo).

MIF

thoracic


Input: FISH study ruled out the presence of a Y-bearing cell line, and confirmed translocation of SRY to Xp terminal part.

SRY

translocation


Input: Expression of costimulatory molecules CD80 and CD86 and their receptors CD28, CTLA-4 on malignant ascites CD3 + tumour-infiltrating lymphocytes (TIL) from patients with ovarian and other types of peritoneal carcinomatosis.

TIL

peritoneal carcinomatosis


Input: There was also a significant increase for these variables in non-proband TS relatives versus non-TS relatives, indicating the association of depression with Gts genes was not due to ascertainment bias or the inappropriate choice of controls.

Gts

depression

Gts

depression


Input: We hypothesized that the functional polymorphisms in IGF-I and IGFBP-3 may be associated with the risk of prostate cancer (PCa) in the Chinese population.

prostate cancer

prostate cancer


Input: This suggests that in sporadic meningiomas and NF2-associated tumors the NF2 gene functions as a recessive tumor-suppressor gene.

NF2 gene

sporadic


Input: Notably, we demonstrate significant regulation of alpha-1-antitrypsin, alpha-2-macroglobulin, hemoglobin subunit alpha, vitamin D-binding protein, major urinary proteins, and transthyretin (up to eight-fold) in serum of lung tumor bearing mice.

lung tumor

lung tumor


Input: Re-analysis of a microarray database of human postmortem prefrontal cortex (Brodmann' s Area 46/10) found that RNF41 messenger RNA expression levels were reduced significantly in patients with major depression and bipolar disorder compared with unaffected control subjects and confirmed by qRT-PCR.

major depression

major depression


Input: The apoptotic death of putaminal neurons and glia in a patient with hereditary ferritinopathy is studied immunohistochemically with antibodies to p53, activated caspase-3, PUMA, BAX, cytochrome c, and inducible nitric oxide synthase.

BAX

hereditary ferritinopathy


Input: Mutation screening of the FSH receptor gene in infertile men.

FSH receptor

infertile


Input: In summary, MMP-13 is androgen regulated and detectable in prostate cancer.

prostate cancer

prostate cancer


Input: IFN-gamma-specific mRNA in antigen-stimulated PBMC from endemic normals appeared to be more prominent than in cells from onchocerciasis patients.

IFN

onchocerciasis


Input: Atrial natriuretic peptide (ANP) is a known vascular antipermeability and antiangiogenic factor, but its possible alteration during the early stages of diabetic retinopathy has not yet been explored.

ANP

diabetic retinopathy


Input: In the case of A431 cells, H-296-coated dishes significantly increased the amount of expressed CAT and the adhesion of electroporated cells in comparison with non-coated dishes.

CAT

adhesion


Input: We have investigated this reported association within our familial and sporadic AD dataset, where we find no independent association between ACT and the occurrence of AD.

ACT

sporadic


Input: Evidence is also provided suggesting that shock engages a neuronal circuitry without having any negative effects on neuronal survival at 24 h. These results suggest that nociceptive activity following SCI decreases BDNF and TrkB levels, which may significantly contribute to diminished functional recovery.

BDNF

shock


Input: No significant difference in the peritoneal LTF levels was found between patients with stage II endometriosis, stage III or IV endometriotic disease and women with functional cysts of ovaries.

LTF

cysts


Input: Dorsal agenesis of the pancreas (DAP) is a rare congenital anomaly, with only 44 cases having been reported in the English literature since 1966.

DAP

agenesis


Input: In portal-systemic encephalopathy resulting from chronic liver failure, astrocytes manifest altered expression of several key proteins and enzymes including monoamine oxidase B, glutamine synthetase, and the so-called peripheral-type benzodiazepine receptors.

monoamine oxidase B

portal-systemic encephalopathy

monoamine oxidase B

portal-systemic encephalopathy


Input: The frequency with which the subjects carried homozygotes of the CYP2A6 gene deletion allele, which causes lack of the enzyme activity, was significantly higher in the gastric cancer patients than in the healthy control subjects (OR = 3. 14, 95% confidence interval (95% CI) = 1. 05-9. 41).

gastric cancer

gastric cancer


Input: The present results provided evidence that the genetic polymorphisms of IL-17A, and MIF-794-CATT repeat are associated with CIHM status in the gastric cancer.

MIF

gastric cancer


Input: Taken together, our results suggest that MTDH could promote EMT in breast cancer cells in driving the progression of their aggressive behavior.

MTDH

aggressive behavior


Input: Mitochondrial membrane protein-associated neurodegeneration is a recently described NBIA syndrome caused by C19orf12 mutations.

Mitochondrial membrane protein-associated neurodegeneration

Mitochondrial membrane protein-associated neurodegeneration


Input: Statistical analysis by one-factor ANOVA revealed no significant relationship of any allele, genotype or haplotype with age, sex, body mass index, heart rate, systolic or diastolic blood pressure, hypertension, the intake of antihypertensive medication or left ventricular mass.

ANOVA

diastolic blood pressure


Input: It is well established that calcitonin is a potent inhibitor of bone resorption; however, a physiological role for calcitonin acting through its cognate receptor, the calcitonin receptor (CTR), has not been identified.

CTR

bone resorption


Input: Finally, we used a subcutaneous xenograft mouse model to show that AVEN knockdown in the T-ALL cell lines, MOLT-4 and CCRF-CEM, and in the acute myeloblastic leukemia cell line, Kasumi-1, leads to a halt in tumor growth owing to the increased apoptosis and decreased proliferation of tumor cells.

AVEN

acute myeloblastic leukemia


Input: We found that the expression of the 13 genes were significantly (P < 0. 01) down-regulated in grade II, III, IV of astrocytoma compared to normal brain tissues, including ERCC1, ERCC2, ERCC3, ERCC4, MGMT, MLH1, MLH3, NTHL1, OGG1, RAD50, SMUG1, XRCC4 and XRCC5.

astrocytoma


Input: The present study sought to investigate the contribution of an autophagy inhibitor (3-methyladenine, 3-MA) on the regulation of ZnTs, microtubule-associated protein 1A/1B light chain 3 (LC3), and beclin-1 expression in rat hippocampus following recurrent neonatal seizures.

neonatal seizures


Input: Inadequate early Th1 and Treg responses and increased production of Th2 cytokines are associated with atopy.

atopy


Input: We describe a previously independent T11 paraplegic patient who had delayed-onset hand weakness and recurrent pneumonia caused by myotonic dystrophy.

recurrent pneumonia


Input: Our results present new advances in the post-transcriptional miR-mediated mechanisms of uPA and they suggest a new strategy to impair the aggressive behavior of HCC cells.

HCC

aggressive behavior


Input: We report a severe case of EHK with a single base pair mutation that causes a threonine for asparagine substitution in residue 8 (N8T) of the 1A region of the keratin 1 protein.

keratin 1

EHK

keratin 1

EHK


Input: Disturbance of these neurodevelopmental processes is proposed as one of the etiologies for mood disorder, and genetic polymorphisms of S100B have a possibility to be in susceptibility to major depressive disorder (MDD).

mood disorder

mood disorder


Input: Co-culture of T cells with Tim-3 knock-down macrophages led to a biased T helper type 2 (Th2) response, partially explaining how Tim-3 signalling shapes inflammation patterns in vivo.

inflammation


Input: These findings suggest that inactivating IDH1 and IDH2 mutations might also play a role in paraganglioma and pheochromocytoma tumorigenesis, especially in non-SDH-or non-VHL-related tumors.

tumorigenesis


Input: A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46, XX and 46, XY French-Canadians: evaluation of gonadal function after puberty.

3beta-hydroxysteroid dehydrogenase deficiency

3beta-hydroxysteroid dehydrogenase deficiency


Input: We identified ten suggestive loci (p-value ≤ 1E-5), including genes/loci that have been previously implicated in chronic periodontitis: LAMA2, HAS2, CDH2, ESR1, and the genomic region on chromosome 14q21-22 between SOS2 and NIN.

chronic periodontitis


Input: Cell lines of CTA/MAF and MAF groups have a translocation involving C-MAF or MAFB, cell lines of groups CCND1-1 and CCND1-2like have a t (11; 14) and cell lines of group MMSET have a t (4; 14).

C-MAF

translocation


Input: The molecular basis of autosomal dominant neurohypophyseal diabetes insipidus, a hereditary deficiency of vasopressin, was determined by nucleotide sequence analysis of the arginine vasopressin-neurophysin-II gene.

arginine vasopressin

neurohypophyseal diabetes insipidus

arginine vasopressin

neurohypophyseal diabetes insipidus


Input: Twenty patients with the deletion/deletion UCP2 genotype had a significant increase in body weight (3. 0 +/-0. 8 vs.-1. 0 +/-1. 1 kg, P < 0. 01) and body fat mass (3. 8 +/-0. 9 vs. 0. 8 +/-1. 0 kg, P < 0. 05) during PD, compared with 19 patients with an insertion/deletion UCP2 genotype.

body weight


Input: The high incidence of this alteration and the significant effects of SGNE1/7B2 on the growth and apoptosis of glioblastoma cells provide a first proof for a functional implication of SGNE1/7B2 inactivation in the molecular pathology of gliomas.

gliomas


Input: Importantly, the aggressiveness in PTHR1-expressing cells was completely reversed by RNAi mediated gene knockdown.

aggressiveness


Input: Individual TSPO density values were significantly and negatively correlated with both SCI-SAS-A and ASA-27 total scores, but not with HAM-D total score or HAM-D anxiety/somatization factor score.

TSPO

somatization


Input: Lamin A-dependent nuclear defects in human aging.

Lamin A

aging


Input: Some families affected by von Willebrand disease type 1 show high penetrance with exceptionally low von Willebrand factor (VWF) levels.

von Willebrand factor

von Willebrand disease type 1

von Willebrand factor

von Willebrand disease type 1


Input: These findings reinforce our understanding of the mechanisms underlying PGL tumorigenesis and point to the yeast Shh4 as a good model to investigate the possible pathogenic relevance of SDHD in PGL polymorphisms.

SDHD

tumorigenesis


Input: Primary sporadic breast tumours were analysed for BRCA1alpha promoter methylation by methylation specific PCR and for allelic imbalance (AI) at BRCA1 and BRCA2 loci by microsatellite analysis and TP53 (also known as p53) mutations by constant denaturing gel electrophoresis.

sporadic


Input: Changes in oligodendroglia-related genes reported in SZ, BD and MDD appear to display considerable similarities (particularly decreased expression of MAG, ERBB, TF, PLP1, MOG, MOBP, MOG), while changes in cocaine abuse and alcoholism are more diverse.

ERBB

alcoholism

ERBB

alcoholism


Input: The present study was undertaken to examine whether the renal structural abnormalities are greater in hypertensive (HBP) versus normotensive (NBP) male and female patients with ADPKD who were matched within gender groups for age, body surface area, serum creatinine concentration (males HBP 1. 2 +/-0. 02 vs. NBP 1. 1 +/-0. 03 mg/dl.

HBP

abnormalities


Input: The hypermethylation of ring finger protein (RNF) 180 DNA promoter is significantly associated with lymph node metastasis of gastric cancer.

RNF

lymph node metastasis


Input: We found the following: (i) decreased secretion with intracellular aggregation of TTR L12P in hepatoma cells relative to WT and V30M variant; this differential property of TTR L12P variant was also observed in mice injected with L12P AAV vector; (ii) differential N-glycosylation pattern of L12P variant in hepatoma cell lysates, conditioned media and mouse sera, which might represent an escape mechanism from ERAD degradation; (iii) intracellular L12P TTR aggregates mainly localized to lysosomes in cultured cells and liver; and (iv) none of the above findings were present in choroid plexus derived cells, suggesting particular secretion/quality control mechanisms that might contribute to leptomeningeal amyloidosis associated with the L12P variant.

AAV

hepatoma


Input: The apparent linkage between non-cancer proneness and a lack of ER and ODC induction was confirmed in a fibroblast strain derived from a patient with another DNA repair disorder, trichothiodystrophy, which does not lead to cancer proneness: in these cells, no induction of the ER response nor of ODC occurs after UV-C irradiation.

ODC

trichothiodystrophy


Input: The mRNA expression of SV2B clearly is altered not only in PAN nephropathy but also in another proteinuric state that is caused by an antibody against nephrin, a functional molecule of the slit diaphragm.

nephropathy

nephropathy


Input: We analyzed immunologic (CD4 and CD8 slopes; interferon-gamma, interleukin-2, interleukin-10, and chemokines production; concentration of IgE; beta 2-microglobulin) and virologic (p24; HIV isolability and phenotype; plasma viremia) parameters in HIV vertically infected children > or = 8 years of age without disease progression or mild symptoms and an absolute CD4 + count > or = 500/microliter with CD4 + percentage > or = 25%.

viremia


Input: McArdle' s disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.

myophosphorylase

McArdle' s disease

myophosphorylase

McArdle' s disease


Input: It has been associated with rearrangements of the BCL3 gene, which is located at the breakpoint on chromosome 19 and is juxtaposed to the immunoglobulin heavy chain locus on chromosome 14 as a result of the translocation.

BCL3 gene

translocation


Input: Although common insulin resistance is associated with several biochemical perturbations, including elevated C-reactive protein (CRP), the biochemical profile in subjects with mutant LMNA is incompletely defined.

CRP

insulin resistance


Input: To determine if increased local production of glucocorticoids by the pancreatic islets might play a role in the spontaneous noninsulin-dependent diabetes mellitus of obesity, we compared islet 11beta-HSD-1 mRNA and activity in islets of obese prediabetic and diabetic Zucker Diabetic Fatty (ZDF) (fa/fa) rats and lean wild-type (+/+) controls.

noninsulin-dependent diabetes mellitus


Input: The gene encoding the potent endogenous telomerase inhibitor PinX1 (PIN2/TRF1-interacting, telomerase inhibitor 1) is located at human chromosome 8p23, a region frequently exhibiting heterozygosity in many common human cancers, but the function or functions of PinX1 in development and tumorigenesis are unknown.

tumorigenesis


Input: Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

Usher syndrome type 3

Usher syndrome type 3


Input: Increased T cell activation was associated with shorter duration of viral suppression, hepatitis C virus coinfection, frequent low-level viremia, and lower nadir CD4 (+) T cell counts.

viremia


Input: In an effort to improve the therapeutic effect of a MAb-based regimen in colorectal carcinoma (CRC) patients, the effects of a combination of alpha-interferon (alpha-IFN), 5-fluorouracil (5-FU), granulocyte-macrophage colony-stimulating factor (GM-CSF) and mouse MAb17-1A was evaluated in 27 patients with metastatic disease. alpha-IFN was given s. c. once daily for 5 consecutive days and at days 4 and 5, 5-FU was administered as a daily i. v. bolus injection.

granulocyte-macrophage colony-stimulating factor

colorectal carcinoma

granulocyte-macrophage colony-stimulating factor

colorectal carcinoma


Input: Our data suggest that preferential involvement of the HER2 gene in micropapillary and apocrine breast carcinomas may contribute to their aggressive behaviour.

HER2 gene

aggressive behaviour


Input: Since we could separate BRCA1-like, BRCA2-like, and sporadic-like tumors, using our current BRCA2-and previous BRCA1-classifier, this method of breast tumor classification could be applied as additional test for current diagnostics to help clinicians in decision making and classifying sequence variants of unknown significance.

sporadic


Input: Since macrophages and macrophage-derived cytokines appear to be important in the transcriptional regulation of " high-risk " types of human papillomaviruses (HPV), we monitored MCP-1 expression by in situ hybridization (ISH) in histologically distinct stages of cervical intra-epithelial neoplasms (CIN), cervical cancer and non-HPV-associated cases of erosive endocervicitis.

epithelial neoplasms


Input: Identification of Sp2 as a transcriptional repressor of carcinoembryonic antigen-related cell adhesion molecule 1 in tumorigenesis.

carcinoembryonic antigen-related cell adhesion molecule 1

tumorigenesis


Input: The prevention of both diabetes and thyroiditis by CD4 (+) CD45RC-peripheral cells and CD4 (+) CD8 (-) thymocytes therefore does not support the view that the mechanism of regulation involves a switch from a T helper cell type 1 (Th1) to a Th2-like response, but rather relies upon a specific suppression of the autoimmune responses involving TGF-beta and IL-4.

thyroiditis


Input: Pre-retinal neovascularization and intra-retinal ischaemia was quantified at P17 and PEDF protein expression was determined using immunofluorescence in retinal flatmounts and sections.

PEDF

retinal neovascularization


Input: N-myc (and STAT) interactor (NMI) gene has been reported in tumorigenesis, and our previous study further showed its implication in glioma progression.

NMI

tumorigenesis


Input: A 21-year-old man with Tourette' s syndrome, pedophilia, Asperger' s syndrome, and multiple sclerosis experienced seizures after receiving therapy with interferon beta-1a.

interferon beta

seizures

interferon beta

seizures


Input: The miRNAs differentially expressed in HCV-related HCC were investigated by comparing the tumorous tissues to a wide range of liver specimens, including healthy livers obtained from liver donors and patients who underwent liver resection for angioma, in addition to tissues from various acute and chronic liver diseases, including HCV-related cirrhosis not associated with HCC, HCV-related cirrhosis associated with HCC and HBV-associated acute liver failure.

HCC

angioma


Input: Upregulation of SOX2, NOTCH1, and ID1 in supratentorial primitive neuroectodermal tumors: a distinct differentiation pattern from that of medulloblastomas.

primitive neuroectodermal tumors


Input: Combined analysis revealed that atopic asthmatic children co-inherited the risk alleles of TNF-alpha-308G/A and IL-13 + 2044G/A more frequently than control children (aOR 1. 91, 95% CI 1. 00-3. 65), and asthmatic children co-inheriting both risk alleles had significantly lower PC (20) values vs. asthmatic children homozygous for the common alleles (P = 0. 024).

atopic


Input: However, ADH1B or ADH1C genotypes did not markedly modify the risk observed after stratification by alcohol consumption, and stratification by cumulative smoking exposure (in packyears) did not show an association of GSTM1 or GSTT1 genotype with laryngeal carcinoma either.

smoking