Input: This effect was mediated by specific binding of NGF to its receptor trk A, which was detected on all pancreatic cancer cells, with subsequent activation of the p44/42 MAPK signaling pathway.

pancreatic cancer


Input: The mitogen-activated protein kinase kinase 1 and 2 signaling pathway is a major component of the RAS (Rat sarcoma)/RAF (Radpidly accelerated fibrosarcoma)/MEK (mitogen-activated protein kinase kinase)/ERKs (Extracellular signal-regulated kinases) signaling axis that regulates tumorigenesis and cancer cell growth.

mitogen-activated protein kinase kinase 1

tumorigenesis


Input: The production of TNF-alpha and nuclear-translocation of nuclear factor kappa B (NF-kappa B) was determined.

TNF-alpha

translocation


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

Burkitt lymphomas

Burkitt lymphomas


Input: The weaker expression of Smad1 and no expression of Smad5 may be one of the pathological mechanisms of infertility with adenine-modeled kidney-yang deficiency.

infertility


Input: Expression of the HER-2/neu oncogene has been suggested to confer added virulence or aggressive behavior in gynecologic malignancies.

aggressive behavior


Input: This is the first patient with ARSACS that carries a de novo chromosomal deletion comprising SACS.

SACS

ARSACS

SACS

ARSACS


Input: Glyoxylase 1 (GLO1) and guanine nucleotide-binding protein 1 (GNB1) mostly account for baseline anxiety-like and depressive-like behavior, indicating a common biological link between depression and anxiety.

depression

depression


Input: On the basis of these data, we hypothesized that, in the P-1 trial, a lower level of ESR1 mRNA in the tamoxifen arm was the main difference between the two study arms.

arms


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

SHBG

insulin resistance


Input: The results, using Ba/F3 cell proliferation assay, acute-phase protein (haptoglobin) induction analysis in HepG2 human hepatoma cells, a porcine cartilage glycosaminoglycan release assessment for proteoglycan degradation, and a collagen release assay, show that these antagonists inhibit relevant LIF, OSM, and other IL-6 subfamily cytokines in vitro albeit with differential potencies and have, therefore, therapeutic potential for treatment of RA and perhaps other diseases.

OSM

hepatoma


Input: In contrast,' buffalo hump' showed a higher expression of the cell proliferation marker PCNA.

PCNA

buffalo hump


Input: Arg16Gly, a functional polymorphism in the beta2-AR gene, has been reported to influence exercise capacity in heart failure patients.

heart failure


Input: CGH analysis indicated chromosomal instability in both early (stages I/II) and advanced (stages III/IV) stage tumors, with common gains on 1q, 8q and 17q23-q25, and losses on 4q22-q35, 8p21-p22, 13q14-q21, 16q and 17p identified in both groups (P > 0. 05).

chromosomal instability


Input: Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.

multiple endocrine neoplasia type 1

multiple endocrine neoplasia type 1


Input: Fgfr1 deficiency conferred resistance to the proteoglycan loss induced by AIA and attenuated the development of cartilage destruction after surgically induced destabilization of the knee joint.

cartilage destruction


Input: Molecular interactions among FA proteins and responsible proteins for other chromosome instability syndromes (BLM, NBS1, MRE11, ATM, and ATR) have also been found.

chromosome instability syndromes


Input: Obese mouse ovaries had decreased Irs1, Foxo3a, Cyp2e1, MiR-103, and MiR-21 but increased Kitlg, Akt1, and miR-184 levels relative to lean littermates.

Obese

Obese


Input: We have investigated the impact of high levels of C5a on the adrenal medulla following cecal ligation and puncture (CLP)-induced sepsis in rats as well as the role of C5a on catecholamine production from pheochromocytoma-derived PC12 cells.

pheochromocytoma


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

FAD

sporadic


Input: These results suggest that the VHL gene is only rarely mutated in thoracic malignancies.

VHL gene

thoracic


Input: Recent studies have shown that 11q23-positive acute leukemia cells express the high molecular weight-melanoma associated antigen (HMW-MAA).

HMW-MAA

acute leukemia


Input: A total of 193 non-psychotic males (117 methamphetamine-dependent and 76 controls) were genotyped for variants located in six genes (AKT1, ARRB2, BDNF, COMT, GSTP1, OPRM1).

psychotic


Input: A SMARCE1 mutation caused CSS without typical facial coarseness and with significant digital/nail hypoplasia.

nail hypoplasia


Input: Cyclooxygenase (COX) inhibition may ameliorate polyp development, but rofecoxib was withdrawn due to cardiovascular side effects.

COX

polyp


Input: The Hsp90 cochaperone FK506 binding protein 5 (FKBP5) is an established regulator of the glucocorticoid receptor (GR), and numerous genetic studies have linked it to stress-related diseases such as major depression or posttraumatic stress disorder.

major depression

major depression


Input: Under basal conditions, rats exposed to perinatal malnutrition showed reduced body weight, enhanced mineralocorticoid receptor (MR) mRNA levels in CA2 and CA3 hippocampal areas, but decreased glucocorticoid receptor (GR) mRNA levels in CA1, CA3 and dentate gyrus (DG) areas.

glucocorticoid receptor

body weight


Input: Several studies have confirmed that OPG (osteoprotegerin) and RANKL (ligand of the receptor activator of nuclear factor-κβ) loci are determinants of bone mineral density (BMD) in the general population.

RANKL

bone mineral density


Input: We report here a novel heterozygous 605G--> T mutation in GJB2 in all affected members of a large family with late childhood onset of autosomal dominant isolated hearing loss.

childhood onset


Input: IL-6 plays a central role in supporting pathological T (H2) and T (H17) cell development and inhibiting the protective T regulatory cells in allergic asthma.

allergic asthma


Input: Membrane translocation of the p67 (phox) subunit of cardiac NADPH oxidase 2 (NOX2) was markedly increased in G4H (-/-) mice, suggesting elevated activity.

translocation


Input: KCNJ11 E23K polymorphism is not associated with increased risk of mild hypoglycemia in sulfonylurea-treated T2DM patients.

mild


Input: T cell lines derived in low concentrations of recombinant IL-2 (rIL-2) from TIL of patients with epithelial ovarian carcinoma (EOC) often exhibit specific cytotoxicity against autologous tumour cells.

TIL

epithelial ovarian carcinoma


Input: Further analyses evidenced independent and additive effects of CTTN and MYLK risk variants for severe asthma susceptibility in African Americans (accumulated OR: 2. 93, 95% CI: 1. 40-6. 13, p = 0. 004).

MYLK

asthma susceptibility


Input: Group-A xeroderma pigmentosum (XPA) gene-deficient mice are defective in nucleotide-excision repair and highly susceptible to ultraviolet-B-, and 9, 10-dimethyl-1, 2-benz [a] anthracene (DMBA)-induced skin carcinogenesis.

XPA

skin carcinogenesis


Input: In all 3 lines and tumors, the ES characteristic reciprocal translocation (11; 22), as well as the presence of the ES-associated p30/32MIC2 antigen, were documented.

tumors


Input: Transforming growth factor beta3 transcripts were increased 4-fold in leiomyoma versus matched myometrium.

leiomyoma


Input: Heparanase and vascular endothelial growth factor expression is increased in hypoxia-induced retinal neovascularization.

Heparanase

hypoxia


Input: Using recombinant adenovirus Adref-1, encoding full-length Ref-1, we transiently overexpressed APE/Ref-1 in human melanocytes, which protected these cells from UVB-induced apoptosis and increased foci formation in culture.

adenovirus


Input: In this study, we evaluated the impact of secondary genetic lesions in acute myeloid leukemia (AML) with inv (16) (p13. 1q22) or t (16; 16) (p13. 1; q22); CBFB-MYH11.

CBFB

secondary


Input: Taken together, our data suggest that miR-345 exerts a suppressive effect on prostate cancer proliferation, invasion and migration through downregulation of Smad1.

prostate cancer


Input: New germline mutations of the p53 gene are rare among patients with " sporadic " sarcoma but may be common in patients with sarcoma whose background includes either multiple primary cancers or a family history of cancer.

p53 gene

sporadic


Input: Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.

body mass index


Input: However, in normal glucose tolerant subjects, plasma chemerin levels were significantly associated with body mass index, circulating triglycerides, and blood pressure.

chemerin

blood pressure


Input: Using highly effective CD20 mAbs that efficiently deplete endogenous mature B cells and homologous CD20 + primary lymphoma cells through monocyte-and antibody-dependent mechanisms, we found that lymphoma depletion and survival were reduced when endogenous host B cells were not depleted, particularly a rare IL-10-producing B cell subset (B10 cells) known to regulate inflammation and autoimmunity.

autoimmunity


Input: We further investigated the interaction of ADD1-rs4963 with smoking or drinking exposure, but found no significant result.

drinking


Input: Clinical sample analyses indicated that osteopontin, LAMB3 and ITGB1 protein expression levels were higher in lung cancer patients, compared to non-cancerous adjacent tissues, and correlated with lymphatic metastasis.

lymphatic metastasis


Input: However, three deletions affecting the same chromosome region and a familial translocation t (8; 13) co-segregating with TRPS, which do not encompass or disrupt the TRPS1 gene, have been reported.

TRPS1 gene

translocation


Input: Our data demonstrated that Ars2 knockdown significantly repressed the proliferation and tumorigenesis abilities of glioblastoma cells in & #160; vitro and in vivo.

glioblastoma

glioblastoma


Input: Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma.

T-cell lymphoma

T-cell lymphoma


Input: The findings reported here demonstrate that SN38 (the active metabolite of CPT-11) induces the tyrosine phosphorylation of EGFR within 5 min, followed by the induction of transcripts and/or proteins of the heparin-binding EGF-like growth factor, amphiregulin, transforming growth factor-alpha, and interlukin-8 (IL-8) in AGS gastric cancer cells.

amphiregulin

gastric cancer

amphiregulin

gastric cancer


Input: t (6; 9) leukemia is an unusual type of AML that is associated with poor prognosis, early age of onset, basophilia, myelodysplasia with frequent ringed sideroblasts, and a CD34-negative initial phenotype.

basophilia


Input: Although somatic mutations of p53 are the most common genetic changes observed to date, the frequency of germline p53 mutations is found to be very low in sporadic malignant tumors.

sporadic


Input: We investigated the association of four DRD5 polymorphisms with smoking initiation and progression to nicotine dependence in a population-based sample of over 900 subjects.

smoking


Input: Since a recent study suggested that both EPO and Klotho mitigate kidney damage, we explored the relation between EPO and Klotho in a doxorubicin hydrochloride (DXR)-induced rat nephropathy model treated with recombinant human erythropoietin (rhEPO).

EPO

nephropathy

EPO

nephropathy


Input: The nucleotide sequence of the 5' flanking region, which contains regions of DNase hypersensitivity and binding sites for putative regulatory proteins, is the same as that of the normal MYC.

MYC

hypersensitivity


Input: Clinical Relevance The combination of night blindness, hyperopia, and clumped retinal pigment deposits should raise the suspicion that a patient has NR2E3 disease.

hyperopia


Input: Treatment of SW480 tumors implanted in Rag (-/-) common gamma chain (-/-) C57BL/6 mice with peritumorally applied TIMP-1-GPI, control rhTIMP-1 protein, or vehicle shows that TIMP-1-GPI leads to a significant reduction in tumor growth.

GPI

tumors


Input: We report the results of a study looking at the association between risk of gastric adenocarcinoma and polymorphisms in genes CYP1A1, CYP1A2, EPHX1, and GSTT1.

gastric adenocarcinoma


Input: TNF-& #945; treatment of primary human lung epithelia and A549 cells induced ZIP8 expression, resulting in significantly higher cell death attributable to both apoptosis and necrosis following Cd exposure.

TNF

necrosis

TNF

necrosis


Input: Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.

GPIIIa

Glanzmann thrombasthenia

GPIIIa

Glanzmann thrombasthenia


Input: Astrocytes in the CA1 region of the hippocampus progressively depolarized starting 3 days after ischemia, which coincided with decreased Kir4. 1 protein expression in the gliotic tissue.

ischemia


Input: Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle-cell lymphomas.

mantle-cell lymphomas

mantle-cell lymphomas


Input: We conducted a nested case-control study to investigate the association between NAT2 genotype, smoking and breast cancer risk among women (110 cases, 113 matched controls) from the CLUE II cohort in Washington County, MD.

smoking


Input: This review will also discuss a possible role of CUGBP1 in liver dysfunction in patients affected with DM1.

liver dysfunction


Input: In diabetic rats, plasma glucose, HbA1c, MDA, fibrinogen, FVII, FDP, PAI-1, and platelet aggregation increased while insulin, PT, aPTT, coagulation time, protein C, ATIII, and antioxidants decreased.

ATIII

fibrinogen


Input: Twelve non-smoking UK Caucasian patients with AgP were selected based on their IL6 haplotypes (six haplotype positive and six haplotype negative based on polymorphisms rs 2069827 and rs 2069825) and underwent full mouth non-surgical periodontal therapy, followed by open flap surgery.

smoking


Input: In this study, we aimed to investigate a possible association between mutations in the Irx4 gene and hypertrophic cardiomyopathy (HC).

Irx4 gene

hypertrophic cardiomyopathy


Input: Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.

Netherton syndrome

Netherton syndrome


Input: Gain-of-function mutations in STAT1 predispose to invasive, severe, disseminated dimorphic yeast infections, likely through aberrant regulation of IFN-γ-mediated inflammation.

inflammation


Input: Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia.

spondyloperipheral dysplasia

spondyloperipheral dysplasia


Input: This result suggests that the MAOB gene may be associated with PD in Chinese if the putative protective effect of tea drinking is taken into account.

MAOB gene

drinking


Input: Analysis of DAZ deletion copies in infertile men revealed 10 gr/gr-DAZ1/DAZ2 deletions, 1 gr/gr-DAZ3/DAZ4 deletion (10/186 vs. 1/186, p = 0. 011) and 3 b2/b3-DAZ1/DAZ2 deletions (13/186 vs. 1/186, p = 0. 002).

infertile


Input: The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems.

CMS

congenital muscular dystrophy


Input: Serum RBP4 correlated positively with adipose RBP4 mRNA and intra-abdominal fat mass and inversely with insulin sensitivity, independently of age, gender, and body mass index.

insulin sensitivity


Input: Such defects were more frequent among the ER/PR/ERBB2 triple-negative and higher-grade tumours, among familial (especially BRCA1/BRCA2-associated) rather than sporadic cases, and the NBS1 defects correlated with shorter patients' survival.

sporadic


Input: Analysis of the role of the BMP7-Smad4-Id2 signaling pathway in SW480 colorectal carcinoma cells.

colorectal carcinoma


Input: Among postmenopausal women, ORs for smoking within the past 3 years were greater for women with the NAT1 * 10 genotype (OR, 9. 0; 95% CI, 1. 9-41. 8) than NAT1-non * 10 (OR, 2. 5; 95% CI, 0. 9-7. 2) and greater for NAT2-rapid genotype (OR, 7. 4; 95% CI, 1. 6-32. 6) than NAT2-slow (OR, 2. 8; 95% CI, 0. 4-8. 0).

smoking


Input: A novel congenital dysprothrombinemia leading to defective prothrombin maturation.

prothrombin

dysprothrombinemia

prothrombin

dysprothrombinemia


Input: Direct visualization of the gamma secretase-generated carboxyl-terminal domain of the amyloid precursor protein: association with Fe65 and translocation to the nucleus.

translocation


Input: Our data suggest a valuable diagnostic impact of CTGF in serum for the follow-up of patients suffering from chronic liver diseases developing fibrosis, cirrhosis and finally HCC.

HCC

fibrosis


Input: In PROKR2, four distinct mutations (p. R80C, p. Y140X, p. L173R, and p. R268C) were identified in five patients with Kallmann syndrome and in one patient with normosmic HH.

Kallmann syndrome

Kallmann syndrome


Input: To define the roles of the calmodulin-stimulated adenylyl cyclases (AC1 and AC8) in morphine-induced analgesia, tolerance, physical dependence, and conditioned place preference, we used mice having targeted disruptions of either the AC1 or AC8 genes or both genes [double knockout mice (DKO)].

physical dependence


Input: The level of adhesion molecules [intercellular cytoadhesion molecule-1 (ICAM-1), E-selectin, P-selectin], von Willebrand s factor (vWf) and endothelin-1 were assessed in patients with mild essential hypertension without further cardiovascular risk factors or clinical manifestations of atherosclerosis before and after quinapril treatment (n = 25) and compared with normotensive controls (n = 29).

E-selectin

mild


Input: Cirrhotic nodule (CN) is now regarded as a preneoplastic lesion that is frequently associated with microscopic foci of HCC through dysplastic nodules (DNs).

HCC

nodule


Input: Our objective was to prospectively screen subjects with fibrous dysplasia for endocrine disease and G (s) alpha gene (GNAS1)-activating mutations.

alpha gene

fibrous dysplasia


Input: The deletions usually involve whole chromosome arms, suggesting a t (1; 19) (q10; p10).

arms


Input: To determine carrier frequency of CRTR-D in the general population we studied the variants in the SLC6A8 gene reported in the Exome Variant Server database and performed functional characterization of missense variants.

CRTR-D

CRTR-D


Input: Analysis of multiple adenomatous polyps from individual patients revealed that not all polyps contained elevated levels of sPLA2 mRNA.

multiple adenomatous polyps


Input: USP44 regulates centrosome positioning to prevent aneuploidy and suppress tumorigenesis.

aneuploidy


Input: To test the hypothesis that angiotensin II (Ang II) in the central nervous system modulates catecholamine-induced cardiac arrhythmias and to determine whether endogenous opioids are operative in this action, arrhythmias were produced in male Wistar rats, by continuous infusion of epinephrine at incremental doses until the development of fatal arrhythmias that were usually ventricular fibrillation.

angiotensin II

cardiac arrhythmias

angiotensin II

cardiac arrhythmias


Input: These results show that the 10197G & gt; A mutation in the mitochondrial ND3 gene should be considered as a common mtDNA mutation responsible for LS and dystonia.

LS

LS


Input: Hsp gene expression profiles differ significantly between inflammatory (RA) and non-inflammatory (OA) joint diseases, showing significantly increased Hsp27 and Hsp90α mRNA levels in RA synovial tissues.

joint diseases


Input: ICE images were obtained from the right atrium during (1) acute left ventricular dysfunction; (2) acute coronary occlusion; (3) pericardial effusion and tamponade; and (4) pulmonary embolism.

ICE

pulmonary embolism


Input: To further investigate the proposed association and to better clarify the role of ACE as a risk factor for AD, we analyzed the genotype and allele frequency distribution of ACE I/D and apolipoprotein E (APOE) gene polymorphisms in 235 Italian patients with sporadic AD, 153 with familial AD (FAD), 192 healthy controls and 111 centenarians.

FAD

sporadic


Input: RESULTS: Several genetic markers were nominally significantly associated with high-grade myopia in qualitative testing, including rs3803036, a missense mutation in PTPRR (P = 9. 1 × 10 (-4)) and rs4764971, an intronic SNP in UHRF1BP1L (P = 6. 1 × 10 (-4)).

myopia


Input: MKRN1 knockdown results in FADD protein stabilization and formation of the rapid death-inducing signalling complex, which causes hypersensitivity to extrinsic apoptosis by facilitating caspase-8 and caspase-3 cleavage in response to death signals.

hypersensitivity


Input: Aspirin prophylaxis begun for suspected rheumatic fever led to compartment syndromes of all four extremities, which resolved with high-dose FVIII and surgical decompression.

FVIII

compartment syndromes


Input: While only three fusion partners of RUNX1 namely ETO, ETV6 and MTG16 have been described so far, there is a plethora of ETV6 fusion partners with about 20 partners described so far.

plethora


Input: This result suggests that reduced expression of Fut8 is a plausible cause of schizophrenia and related disorders.

schizophrenia and related disorders

schizophrenia and related disorders


Input: Trisomy 9, trisomy 22, and polyploidy of chromosomes 9 and 22 were specific atypical FISH signal patterns for childhood B cell acute lymphoblastic leukemia (B-ALL) patients.

FISH

polyploidy


Input: TSA could be a candidate of a therapeutic agent for reversing the TGF-beta1-induced ECM synthesis that leads to nasal polyp development.

TSA

nasal polyp


Input: P-cadherin was not detected in Borrmann' s type-4 or scirrhous carcinomas where the tumor cells proliferate diffusely with productive fibrosis.

P-cadherin

fibrosis


Input: Decreased FA in of the columns of the fornix is particularly robust in early FAD and may provide a biomarker for early disease in sporadic Alzheimer' s disease.

FAD

sporadic


Input: WISE enrolled women with symptoms and signs of ischemia referred for coronary angiography; WTH enrolled asymptomatic, community-based women without heart disease.

WISE

ischemia


Input: To determine the mechanism of RGC-32 in angiogenesis, we examined the role of RGC-32 in hypoxia-related endothelial cell function.

hypoxia


Input: Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.

autoimmune lymphoproliferative syndrome

autoimmune lymphoproliferative syndrome


Input: In 45 primary ovarian carcinoma samples where both components of the IL-11 receptor (IL-11Ralpha and gp130) were examined, coexpression was observed in 42 (93. 3%).

ovarian carcinoma

ovarian carcinoma


Input: Other pathogenic theories consider tumour derived factors, such as LMF (Lipid Mobilising Factor) and PIF (Proteolysis-inducing Factor), to be responsible for the weight losing pattern of cancer patients via activation of various catabolic pathways (e. g.

Proteolysis-inducing Factor

weight


Input: Because ozone produces oxidative stress, increased airway TNF, and inflammation, the associations of the-308 TNF polymorphism with asthma may vary by ozone exposure and variants of oxidant defense genes glutathione-S-transferase (GST) M1 and GSTP1.

inflammation


Input: Knockdown of dnaaf3 in zebrafish likewise disrupts dynein arm assembly and ciliary motility, causing primary ciliary dyskinesia phenotypes that include hydrocephalus and laterality malformations.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: In this review we will discuss recent progress made in the understanding of the BAFF/APRIL-TACI/BCMA/BAFF receptor system in relation to the recent discovery that mutations in human TACI cause a primary humoral immunodeficiency.

BCMA

humoral immunodeficiency


Input: Immunohistochemistry against known cell-type markers on serial sections has localised the expression of REGs to metaplastic Paneth cells (REG1A, REG1B and REG3A) and enteroendocrine cells (REG4), with a marked expansion of expression during inflammation.

inflammation


Input: Thus, we have identified GNAI3 as a second gene possibly responsible for X-linked ocular albinism.

ocular albinism

ocular albinism


Input: The PTEN gene (phosphatase and tensin homologous on chromosome 10) is frequently mutated or deleted in a number of malignancies including human hepatocellular carcinoma (HCC).

tensin

malignancies


Input: MTL in HCC was significantly shorter than chronic hepatitis.

HCC

chronic hepatitis


Input: XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.

SOX3 gene

sex reversal


Input: Our results suggest that autosomal-dominant TWIST2 mutations cause AMS or BSS by inducing protean effects on the transcription factor' s DNA binding.

AMS

AMS


Input: GPR26-deficient mice display increased anxiety-and depression-like behaviors accompanied by reduced phosphorylated cyclic AMP responsive element-binding protein level in central amygdala.

AMP

depression

AMP

depression


Input: Expression of DRCTNNB1A in SW480 colon cancer cells was significantly increased in response to reduction of intracellular beta-catenin by adenovirus-mediated transfer of the beta-catenin-binding domain of the adenomatous polyposis coli gene into the cells.

adenovirus


Input: A significant correlation was found between baseline TAFI antigen concentrations and the duration of amenorrhea (P & lt; 0. 05; r = 0. 33).

TAFI

amenorrhea

TAFI

amenorrhea


Input: Experimental data showed that SGEF was overexpressed in human prostate cancer cells and specimens.

SGEF

prostate cancer


Input: However, the effects of the ADH2 polymorphism may be mild because this polymorphism does not seem to influence alcohol drinking behavior in these study subjects.

mild


Input: No ALK translocations were identified in 36 PTCs with distant metastases, 28 poorly differentiated (insular) carcinomas, and 20 anaplastic carcinomas.

ALK

PTC

ALK

PTC


Input: Decreased LARGE expression and hypermethylation of the LARGE gene promoter were correlated with lymph node metastasis and α-DG glycosylation in human tongue cancer (n = 50; P =. 043 and. 015 respectively).

LARGE

lymph node metastasis


Input: We discovered two independent missense SNVs in IL23R and GJB2 of low frequency and five common missense SNVs in LCE3D, ERAP1, CARD14 and ZNF816A associated with psoriasis at genome-wide significance.

psoriasis

psoriasis


Input: There was little change in medial area and no evidence of neointima in the contralateral carotid of WT or PAPP-A Tg mice.

PAPP-A

neointima


Input: Previously, we and others reported that homozygous mutations in the fetal acetylcholine receptor gamma subunit (CHRNG) can cause both lethal and non-lethal MPS, demonstrating that pterygia resulted from fetal akinesia, and that mutations in the acetylcholine receptor subunits CHRNA1, CHRND, and Rapsyn (RAPSN) can also result in a MPS/FADS phenotype.

CHRND

pterygia


Input: When PBSC were obtained from a patient with PCR-positive acute lymphocytic leukemia and treated with the CD4 (-)-LAK for 3 h, reexamination showed conversion to PCR negativity.

LAK

acute lymphocytic leukemia


Input: Expression of an estrogen-induced breast cancer-associated protein (pS2) in benign and malignant human ovarian cysts.

ovarian cysts


Input: The 5' untranslated region (UTR) of the varCSA-type sequence is also transcribed in placental isolates that bind to CSA, illustrating an important role for the unique 5' varCSA-type sequence in the regulation of var genes involved in malaria pathogenesis in pregnant women.

UTR

malaria


Input: Pigmented epithelioid melanocytoma (PEM) is a recently described entity comprising most cases previously described as " animal-type melanoma " and epithelioid blue nevus (EBN) occurring in patients with the multiple neoplasia syndrome Carney complex (CNC).

PEM

melanocytoma


Input: We used single-stranded conformation variance analysis of the exons of the human LCHAD (alpha subunit) gene to determine the molecular basis of LCHAD deficiency in three families with children presenting with sudden unexplained death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome).

LCHAD

LCHAD deficiency

LCHAD

LCHAD deficiency


Input: Fibroblasts derived from two recently identified bare lymphocyte syndrome patients, EBA and FZA, were found to contain novel mutations in the RFX-B gene.

RFX-B

bare lymphocyte syndrome

RFX-B

bare lymphocyte syndrome


Input: In human hepatocellular carcinoma (HCC) cells (Hep3B, HepG2, Huh7), adenovirus-mediated overexpression of E2F-1 (AdCMV-E2F) transcriptionally increased PKR mRNA.

PKR

adenovirus


Input: Our studies suggest that the hypersensitivity of NT2/D1 cells to low-dose 5-aza is multifactorial and involves the combined activation of p53 targets, repression of pluripotency genes, and activation of genes repressed by DNA methylation.

hypersensitivity


Input: Western blots revealed overexpression of & #946;-catenin, c-Myc, cyclin D1, inducible nitric oxide synthase and cyclooxygenase-2 in colon tumor samples.

cyclin D1

colon tumor

cyclin D1

colon tumor


Input: We developed mice with a thyroid-specific knock-in of oncogenic Braf (LSL-Braf (V600E)/TPO-Cre) to explore the role of endogenous expression of this oncoprotein on tumor initiation and progression.

TPO

tumor initiation


Input: Using two functionally distinct NF-kappaB inhibitors we observed a decrease in latency to onset of kainate-induced seizures and status epilepticus.

NF-kappaB

status epilepticus


Input: Indeed, ascites-and LPA-induced migration was inhibited by Ki16425, an LPA (1) and LPA (3) antagonist, in Panc-1 cells.

LPA

ascites


Input: We studied the role of SR-A and CD36 in foam cell formation and atherogenesis by RNA interference (RNAi)-mediated silencing, which is a clinically feasible method to down-regulate the expression of these receptors.

atherogenesis


Input: The results provide strong evidence that MT-3 could be a biomarker for the development of high-grade bladder cancer and that the expression of the MT-3 gene is not involved in the in vitro malignant transformation of UROtsa cells by Cd (+ 2) and As (+ 3).

bladder cancer

bladder cancer


Input: Interestingly, background liver parenchyma showed no inflammation or fibrosis and BSEP expression was preserved.

BSEP

fibrosis


Input: Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene.

RDS

central areolar choroidal dystrophy

RDS

central areolar choroidal dystrophy


Input: These findings also suggest that calpain 3 deficiency occurs in both sporadic and familial LGMD and that direct analysis of the calpain 3 gene may be useful in the definitive diagnosis not only of the 15q-linked familial but also of sporadic cases of LGMD.

calpain 3

sporadic


Input: Treatment with AqE-TFG produced significant reduction in body weight gain, body mass index (BMI), white adipose tissue (WAT) weights, blood glucose, serum insulin, lipids, leptin, lipase, and apolipoprotein-B levels and elevation in adiponectin levels.

TFG

body weight gain


Input: The objectives of this study were to determine the effects of intraduodenal (ID) glucose infusions at 2 (ID2) and 4 (ID4) kcal/min (equating to two rates of gastric emptying within the physiological range) on the size of the incretin effect, gastrointestinal glucose disposal (GIGD), plasma GIP, GLP-1, and glucagon secretion in health and type 2 diabetes.

type 2 diabetes


Input: AIM: Using the cDNA microarray method, we have previously compared expression under two distinct conditions: a pool of 4 clinically non-functioning pituitary adenomas (NFPA) and a spinal cord metastasis of a non-functioning pituitary carcinoma, in order to gain biological insights into genomic changes of pituitary neoplasias.

AIM

pituitary carcinoma


Input: Correlation of chromosomal instability (CIN) with BRCA1 expression and p53 abnormality was studied in sporadic breast cancers since these genes are implicated in the double strand DNA repair and mitotic checkpoint, and loss of their function is speculated to result in the accumulation of CIN.

sporadic


Input: Both CD21 and CD19 deficiencies cause hypogammaglobulinemia and reduced memory B cells.

hypogammaglobulinemia

hypogammaglobulinemia


Input: The importance of the Fstl1 induction of OSM to airway remodeling was demonstrated in murine studies in which administration of Fstl1 induced airway remodeling and increased OSM, whereas administration of an anti-OSM Ab blocked the effect of Fstl1 on inducing airway remodeling, eosinophilic airway inflammation, and airway hyperresponsiveness, all cardinal features of asthma.

OSM

asthma


Input: High expression of TRF2, SOX10, and CD10 in circulating tumor microemboli detected in metastatic melanoma patients. A potential impact for the assessment of disease aggressiveness.

metastatic melanoma


Input: Controlling for age and race differences (ie, 74% of African Americans v 47% of whites had positive FH), the positive FH group exhibited greater LVM/height (2. 7), LVM/body surface area, higher systolic (SBP) and diastolic blood pressures (DBP), and total peripheral resistance index (TPRI) and lower cardiac index at rest (P <. 05 for all).

DBP

height


Input: Induction of native and foreign HGF synthesis in damaged TECs at the initial stage of AKI leads to recovery of the disturbed balance of HGF/TGF-β1 during scar formation, being one of the vital mechanisms.

HGF

scar


Input: Lack of claudin-1 in NISCH syndrome may lead to increased paracellular permeability between epithelial cells.

NISCH syndrome

NISCH syndrome


Input: This study provides no support for the hypothesis that fast NAT2 acetylators are at increased risk of colorectal cancer, even if exposed to high levels of HA from well-cooked meat or smoking.

smoking


Input: Furthermore, in contrast to previous reports, the expression of GCS protein was shown to be much higher in ductal carcinoma in-situ than that in invasive ductal cancer.

GCS

ductal carcinoma


Input: Our data suggest that germ-line msh6 mutations predispose individuals to primarily late-onset, familial colorectal carcinomas that do not fulfill classic criteria for HNPCC.

colorectal carcinomas

colorectal carcinomas


Input: The depressed sarcoplasmic reticulum (SR) Ca2 +-ATPase (SERCA2a) and Ca2 +-release channels (ryanodine receptor RyR2) are involved in the diabetic cardiomyopathy.

diabetic cardiomyopathy


Input: In HCC cells, high levels of p300 facilitated the binding of YAP to the MCAM promoter, which in turn enhanced histone acetylation and polymerase II recruitment through the dissociation of the deacetylase Sirt1.

MCAM

dissociation


Input: We conclude that miRNA-dependent SERCA2 dysregulation is a pathogenic event in 22q11DS and schizophrenia.

schizophrenia

schizophrenia


Input: Sema3E affected integrin-mediated adhesion to fibronectin of prostate cancer cells, and inhibited their motility.

adhesion


Input: Analysis of genetic variations of protein tyrosine kinase fyn and their association with alcohol dependence in two independent cohorts.

protein tyrosine kinase

alcohol dependence

protein tyrosine kinase

alcohol dependence


Input: Reduced expression of apolipoprotein E receptor type 2 in peripheral blood lymphocytes from patients with major depressive disorder.

apolipoprotein E receptor

major depressive disorder

apolipoprotein E receptor

major depressive disorder


Input: SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

SERKAL syndrome

SERKAL syndrome


Input: Examination of GTT1 mRNA expression by semiquantitative RT-PCR assays in a series of tumour cell lines indicated wide-spread GTT1 expression with predominance in both choriocarcinoma JEG-3 and JAR cells, colorectal adenocarcinoma HT29 and hepatocellular carcinoma HepG2 cells.

colorectal adenocarcinoma


Input: Three hundred and ninety-eight HBV-positive individuals (192 HCC and 206 patients with chronic hepatitis) and one hundred and ninety-two healthy participants from the First Affiliated Hospital of Guangxi Medical University were enrolled in this study.

HCC

chronic hepatitis


Input: X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA.

HPT

idiopathic hypoparathyroidism


Input: CYR61 is an extracellular matrix-associated protein that promotes adhesion, migration, and proliferation of endothelial cells and fibroblasts.

adhesion


Input: Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.

acid sphingomyelinase

type A Niemann-Pick disease

acid sphingomyelinase

type A Niemann-Pick disease


Input: The protection from polyploidy conferred by Nampt was not associated with enhanced poly (ADP-ribose) polymerase-1 or sirtuin (SIRT) 2 activity, but with increased SIRT1 activity, which reduced cellular reactive oxygen species and the associated oxidative stress stimulus for the induction of polyploidy.

polyploidy


Input: p53 expression showed the following percentages: VIN: 60. 7% (17/28), cancer: 18. 9% (7/37) and control: 8. 3% (1/12) (p = 0. 01).

VIN

cancer


Input: However, we report here that thyroxine-substituted female Pax8 (-/-) mice are infertile because they lack a functional uterus revealing only remnants of myometrial tissue.

infertile


Input: As a result, Mst1 Tg mice develop adult dilated cardiomyopathy driven by apoptosis, reduction in cell density and no hypertrophic compensation.

dilated cardiomyopathy


Input: Direct sequencing of DNA from a family with autopsy-proven Alzheimer' s disease revealed a single amino acid substitution (Phe for Val) in the transmembrane domain of the amyloid precursor protein.

amyloid precursor protein

Alzheimer' s disease

amyloid precursor protein

Alzheimer' s disease


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

major depression

major depression


Input: The association between five TNFSF15 SNPs (rs4574921, rs3810936, rs6478108, rs6478109, and rs7848647) and various clinical parameters including stricture, non-perianal penetrating complications, bowel resection, and reoperation was investigated.

stricture


Input: We studied gene variants of estrogen receptor alpha (rs827421, rs1913474, rs1801132, rs722207, rs974276 and rs910416) in 167 German suicide attempters (affective spectrum n = 107, schizophrenia spectrum n = 35, borderline personality disorder n = 25), 92 German individuals who committed suicide and 312 German healthy subjects.

estrogen receptor alpha

personality disorder


Input: These results provide additional evidence that mutations in the NF2 gene play an important role in the development of sporadic meningiomas and schwannomas.

NF2 gene

sporadic


Input: Of our PSACH patients, 19% tested negative for both COMP and Col9A3 mutations, and they presented with the greatest mean height deviations, but the least mean MADs.

COMP

height


Input: Because of the inflammatory nature and extensive stromal compartment in pancreatic tumors, we investigated the role of mesenchymal stromal cells (MSC) to engraft selectively in pancreatic carcinomas and serve as anti-tumor drug delivery vehicles to control pancreatic cancer progression.

MSC

carcinomas


Input: The loss of the caspase-2 gene (Casp2) enhances oncogene-mediated tumorigenesis induced by E1A/Ras in athymic nude mice, and also in the Eμ-Myc lymphoma and MMTV/c-neu mammary tumor mouse models.

tumorigenesis


Input: Blood samples were collected from 72 patients with HCC, 37 with liver cirrhosis or chronic hepatitis and 41 healthy volunteers.

HCC

chronic hepatitis


Input: Although the + 104T/C polymorphism in the 5' untranslated region (UTR) of growth differentiation factor 5 (GDF5) plays a role in the pathogenesis of knee osteoarthritis, the results have been inconsistent.

UTR

knee osteoarthritis


Input: Subgroup analysis comparing patients with stage I mesothelioma with subjects with exposure to asbestos revealed a sensitivity of 84. 6 percent and a specificity of 88. 4 percent at a cutoff value of 62. 4 ng of osteopontin per milliliter.

osteopontin

mesothelioma

osteopontin

mesothelioma


Input: We further demonstrated that SAC stabilized the adherent junction complex of E-cadherin/beta-catenin in oral cancer cells.

SAC

oral cancer


Input: DEC1 (BHLHB2/Stra13/Sharp2) and DEC2 (BHLHB3/Sharp1) are basic helix-loop-helix (bHLH) transcription factors that are involved in circadian rhythms, differentiation and the responses to hypoxia.

circadian rhythms


Input: We have mapped recessive nanophthalmos to a unique locus at 11q23. 3 and identified four independent mutations in MFRP, a gene that is selectively expressed in the eye and encodes a protein with homology to Tolloid proteases and the Wnt-binding domain of the Frizzled transmembrane receptors.

MFRP

nanophthalmos

MFRP

nanophthalmos


Input: Increased PED/PEA-15 levels may affect tumorigenesis and cancer progression as well as sensitivity to anticancer agents.

tumorigenesis


Input: BACH1-deficient cells were also sensitive to mitomycin C (MMC) and underwent MMC-induced chromosome instability.

chromosome instability


Input: This finding was not altered when adjusting for potential confounding factors (duration of tamoxifen treatment, CYP2D6 phenotype, estradiol serum concentration, age and body mass index).

body mass index


Input: Methylation of cyclin D2 was also observed more in non-neoplastic tissues and with increasing age (P = 0. 041 in the pancreas, P = 0. 047 in the duodenum, and P = 0. 0008 in the gallbladder).

cyclin D2

non-neoplastic


Input: We used quantitative real-time PCR to measure expressions of SRp20, SRp30c, SC35, SRp40, SRp46, SRp54, SRp55, SRp75, ASF/SF2, and 9G8 mRNA in peripheral white blood cells of 33 mood disorder patients during a depressive episode.

mood disorder


Input: Using oligonucleotide expression arrays, mRNA levels of PRL-1 and PRL-2 but not PRL-3 were identified as up-regulated in pancreatic cancer cell lines and tumor samples taken directly from patients compared with those of normal pancreas.

pancreatic cancer


Input: However, little is known about the role of LMO3 in either tumorigenesis or development.

tumorigenesis


Input: This study examined whether reactivity to alcohol cues in the ANP target region amygdala, a key area implicated in addictive behavior, differs depending on the GATA4 genotype of a patient.

ANP

addictive behavior


Input: We therefore investigated gene expression of 25 inflammation-related miRNAs, 27 cytokines/chemokines/receptors, and a Th1-transcription factor T-bet in unseparated BAL cells obtained from 48 sarcoidosis patients and 14 control subjects using quantitative RT-PCR.

inflammation


Input: Through a subsequent positional cloning effort we found that this breakpoint targets a hitherto unidentified gene, designated DIRC2 (disrupted in renal cancer 2).

renal cancer


Input: To investigate risk factors for adult lumbar spine osteoarthritis (OA) including polymorphisms of the vitamin D receptor gene (VDR) and birthweight.

VDR

birthweight


Input: Ectonucleoside triphosphate diphosphohydrolase 6 expression in testis and testicular cancer and its implication in cisplatin resistance.

Ectonucleoside triphosphate diphosphohydrolase 6

testicular cancer


Input: Mice lacking FATP4, which genetically model the human disease, are born with tight, thick skin and a defective skin barrier; they die neonatally due to dehydration and restricted movements.

thick skin


Input: Sequential activation of hypoxia-inducible factor 1 and specificity protein 1 is required for hypoxia-induced transcriptional stimulation of Abcc8.

hypoxia


Input: In the current study, 31% of patients with sporadic ALS carried a mutation in the Hfe gene, compared to only 14% of patients without identifiable neuromuscular disease, or with neuromuscular diseases other than ALS (p < 0. 005).

Hfe gene

sporadic


Input: We investigated the expression of KIT and stem cell factor (SCF) in CRC in comparison with premalignant colon lesions and normal colonic mucosa to assess the prognostic and therapeutic relevance of this receptor/ligand system in CRC.

SCF

premalignant


Input: No known genes were disrupted by the translocation breakpoints but several candidate TSGs (e. g., EPHB1, EPHA7, PPP2R3A RNF184, and STAG1) map within close proximity to the breakpoints.

translocation


Input: NKX6. 1 overexpression was significantly correlated with tumor size, tumor differentiation, clinical stage, metastasis, and relapse.

NKX6. 1

metastasis


Input: The other FSHR coding gene variations and CYP19A1 rs10046 investigated are most likely not involved in the aetiology of iatrogenic OHSS or sterility.

FSHR

sterility


Input: Thus, we identified Wwox as a novel molecule in the HIF-1α-HDM2 regulatory loop, necessary for the dynamic regulation of the HIF-1α amount, and we suggested that the reduction of endogenous Wwox free pool under hypoxia might also be due to the interaction with HDM2, sequestering the E3 ubiquitin ligase.

E3 ubiquitin ligase

hypoxia


Input: Vascular endothelial growth factor (VEGF) is a previously discovered angiogenic factor that seems to influence the neoangiogenesis of neoplastic and non-neoplastic tissues.

VEGF

non-neoplastic


Input: In line with significant overlap between age-and depression-related molecular pathways, parallel work has shown that FREM3 expression in postmortem human brain decreases with age.

depression


Input: To explain the observations in the context of chlamydial infection and trachoma we propose a two-stage model of response and disease that balances the cytolytic response of KIR expressing NK cells with the ability to secrete interferon gamma, a combination that may cause pathology.

KIR

chlamydial infection


Input: Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients.

factor V Leiden

Budd-Chiari syndrome

factor V Leiden

Budd-Chiari syndrome


Input: Notably, increased levels of the p202 protein, which is encoded by the p53-repressible interferon-inducible Ifi202 gene, in B cells of female mice are associated with defects in B cell apoptosis, inhibition of the p53-mediated transcription of pro-apoptotic genes, and increased lupus susceptibility.

lupus


Input: These findings suggest HO-1 as a potential therapeutic target for obesity and its associated health risks.

obesity

obesity


Input: This finding is consistent with our observation that EVA occurs in the Slc26a4 (+/-); Foxi1 (+/-) double-heterozygous mouse mutant.

EVA

EVA


Input: On the basis of immunoinformatics analysis, some substitutions were predicted to disrupt T-cell epitope immunogenicity/antigenicity that might largely influence the outcome of vaccine derived from JEV GIII SA14-14-2 strain and this has been observed in a previously vaccinated boy with mild JE/AES due to JEV GI infection.

AES

mild


Input: The presence of an X4 strain was associated with CD4 nadir (p = 0. 005), CD4 absolute count over time (p < 0. 001), and cumulative positive (copy/years) viremia (p < 0. 001) during the whole patient history.

viremia


Input: Taken together, our findings indicate that CLU is an important mediator of TGF-β-induced EMT, and suggest that CLU suppression may represent a promising therapeutic option for suppressing prostate cancer metastatic progression.

EMT

prostate cancer metastatic


Input: AIM: To study the expression of p53, MDM2, and p14 ARF in the highly, moderately and low differentiated endometrial adenocarcinomas, compared to hyperplasia.

AIM

hyperplasia


Input: At present, the molecular, cellular, and microenvironmental mechanisms that enable post-EMT and metastatic carcinoma cells to hijack the oncogenic activities of TGF-β remain incompletely understood.

EMT

metastatic carcinoma


Input: It would appear that the occurrence of calpain 3 gene mutations in sporadic LGMD in Japan may be quite high since all five patients with mutations in this gene were among the 14 patients without apparent family history, an incidence of 36%.

calpain 3

sporadic


Input: Mutations in the type I keratin 16 (Krt16) and its partner type II keratin 6 (Krt6a, Krt6b) cause pachyonychia congenita (PC), a disorder typified by dystrophic nails, painful hyperkeratotic calluses in glabrous skin, and lesions involving other epithelial appendages.

painful


Input: The pathogenesis underlying most familial and sporadic VSs has been linked to a mutation in a single gene, the neurofibromin 2 (NF2) gene located on chromosome 22, band q11-13. 1.

neurofibromin 2

sporadic


Input: Cox' s proportional hazard analysis showed that the TT genotype is a significant risk factor for CVD (hazard ratio (HR) = 1. 82 (95% confidence interval (CI) 1. 14-2. 89); P = 0. 012) and stroke (HR = 1. 76 (95% CI: 1. 01-3. 07); P = 0. 048) incidences after adjustment for age, sex, hypertension, hyperlipidemia, diabetes, alcohol drinking and smoking at baseline.

Cox' s

smoking


Input: Bone morphogenetic protein-4 (BMP4) and its antagonist Noggin have been shown to play important roles both in embryonic development and in the adult nervous system, and may regulate hippocampal neurogenesis.

nervous system


Input: We observe a significant interaction of rs671 and alcohol consumption on AAT levels.

AAT

alcohol consumption


Input: LSD1 may be a novel therapeutic target and prognostic tool for gallbladder cancer.

gallbladder cancer


Input: Two distinct deleterious mutations (c. 502A & gt; G and c. 666_676 + 1del12) identified in an unrelated PN patient confirmed that the C16orf57 gene is responsible for PN.

PN

PN


Input: Reduced expression of human equilibrative nucleoside transporter 1 (hENT1) results from nitric oxide (NO)-dependent reduced SLC29A1 transcriptional activity in human umbilical vein endothelial cells (HUVECs) from gestational diabetes.

diabetes


Input: We hypothesized that forced expression of RALT in the murine heart would protect the heart against cardiac hypertrophy in vivo.

RALT

cardiac hypertrophy


Input: The prion protein (PrPC) has a primary role in the pathogenesis of transmissible spongiform encephalopathies, which causes prion disorders partially due to Ca2 + dysregulation.

transmissible spongiform encephalopathies


Input: Taken together, our data reveal novel Egr-1 signaling that mediates the NF-& #954; B and AP-1 pathways to orchestrate PM-induced pulmonary inflammation and mucus hyperproduction, suggesting that Egr-1 inhibition could be an effective therapeutic approach for airway disorders or disease exacerbations induced by airborne particulate pollution.

pulmonary inflammation

pulmonary inflammation


Input: We have, therefore, analysed the association of six single nucleotide polymorphisms (SNPs) within the three genes belonging to the NR4A orphan nuclear receptor family, NR4A1 (rs2603751, rs2701124), NR4A2 (rs12803, rs834835) and NR4A3 (rs1131339, rs1405209), with the degree of smoking in a sample of 204 unrelated schizophrenia patients, which included 126 smokers and 78 non-smokers.

smoking


Input: In the present study, a point mutation in exon 7 of the FALDH gene was found in SLS patients of northern Swedish origin.

FALDH

SLS

FALDH

SLS


Input: Thus it is evident that Crisponi syndrome is the pediatric manifestation of both CISS1 and CISS2.

Crisponi syndrome

Crisponi syndrome


Input: We have studied the effect of genetic polymorphisms in the DNA repair genes hOGG1, XRCC1, XRCC3, ERCC2 and the MTHFR gene in the folate metabolism on the frequencies of cells with chromosomal aberrations (CA), chromosome-type aberrations (CSA), chromatid-type aberrations (CTA), chromatid breaks (CTB) and chromatid gaps (CTG) scored in peripheral blood lymphocytes from 651 Norwegian subjects of Caucasian descendant.

MTHFR gene

chromosomal aberrations


Input: During the treatment of this episode, he was initially started on sertraline 50 mg/d, which was discontinued within 48 hours, given the lack of depressive symptoms, and risperidone was initiated at 1 mg BID.

BID

depressive symptoms


Input: The position of the mutation in PKD1 is predictive for development of intracranial aneurysms (59 mutations are more commonly associated with vascular disease) and is therefore of prognostic importance.

vascular disease


Input: Disease activity was assessed by: SLEDAI, 24 hr-proteinuria, circulating levels of complement C3, anti-double-stranded DNA (anti-dsDNA), β2MG and various pro-inflammatory and anti-inflammatory cytokines (IL-6, IL-8, IL-10, IL-18) measured with a multiplex assay, IFN-α assessed with a reporter gene assay, and a combined expression score of 12 IFN-α inducible genes in peripheral blood mononuclear cells.

proteinuria


Input: Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder characterized by the expansion of a leukemic stem cell (LSC) clone, carrying a Philadelphia translocation, able to overcome the non-malignant hematopoietic stem cells.

LSC

myeloproliferative disorder


Input: Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

Posterior Polymorphous Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy


Input: BACKGROUND: Activating transcription factor-2/Activator protein-1 (AP-1), Signal transducer and activator of transcription-3 and p53 are important regulators of cellular proliferation, apoptosis, differentiation in the pathogenesis of many human tumors, but the expression of phosphorylated (p)-activating transcription factor-2 (p-ATF2), phosphorylated (p)-signal transducer and activator of transcription-3 (p-STAT3) and p53 family (p63 and p73) has not been investigated in cutaneous angiosarcoma (CAS) and pyogenic granuloma (PG) so far.

pyogenic granuloma


Input: Comprehensive mutational analysis of KCND3-encoded Kv4. 3 (I (to)) was conducted using polymerase chain reaction, denaturing high performance liquid chromatography, and direct sequencing of DNA derived from 86 unrelated BrS1-8 genotype-negative BrS patients.

BrS

BrS


Input: In contrast, morphologically normal colon from DMH-treated rats and dysplastic aberrant crypt foci were strongly stained, indicating that increased Gal-3 expression is an early event during the neoplastic transformation in colon cells.

DMH

neoplastic transformation


Input: In patients with ovarian carcinoma, thyroid transcription factor 1 staining was associated with significantly improved progression-free (P =. 017) and overall survival (P =. 017) using univariate analysis.

transcription factor 1

ovarian carcinoma


Input: Our p53 data suggest that, at least in this panel of non-isogeneic TGCT cell lines, hypersensitivity to therapeutic agents is not associated with p53 status.

hypersensitivity


Input: The study aimed to evaluate the levels of adiponectin (ADP), adipocyte fatty acid binding protein (A-FABP), fibroblast growth factor (FGF 21), and selected proinflammatory markers during the early stage of acute pancreatitis.

ADP

acute pancreatitis


Input: CD77 and/or SLT-1 binding was detected by flow cytometry and immunocytochemistry on lymphoma and breast cancer cells recovered from biopsies of primary human cancers as well as on B cells or plasma cells present in blood/bone marrow samples of multiple myeloma patients.

SLT

cancers


Input: We hypothesized that overexpression of SOD1 in donor hearts would suppress ischemia-reperfusion injury and thereby reduce GCAD.

ischemia-reperfusion injury

ischemia-reperfusion injury


Input: We discovered rare variants in three genes that are clinically associated with sudden cardiac death-TMEM43, DSP, and MYBPC3.

DSP

sudden cardiac death

DSP

sudden cardiac death


Input: DDX3 expression was investigated by immunohistochemistry in breast cancer in comparison with hypoxia related proteins HIF-1α, GLUT1, CAIX, EGFR, HER2, Akt1, FOXO4, p53, ERα, COMMD1, FER kinase, PIN1, E-cadherin, p21, p27, Transferrin receptor, FOXO3A, c-Met and Notch1.

hypoxia


Input: Our data suggest that inactivation of LRP-DIT occurs in at least 40% of NSCLC lines and thus may play an important role in tumorigenesis of NSCLCs.

LRP-DIT

tumorigenesis


Input: The combined effects between the TNF gene and smoking on gastric cancer risk were also evaluated.

TNF gene

smoking


Input: There was no association between RBP4 levels and whole body insulin sensitivity measured with either the euglycemic insulin clamp or OGTT, basal hepatic glucose production rates, and the hepatic insulin resistance index.

insulin sensitivity


Input: Chromosome 17q11-q21 is a region of the genome likely to harbor susceptibility to autism (MIM (209850)) based on earlier evidence of linkage to the disorder.

MIM

autism


Input: Both HCV-specific IL-10 and IFNgamma responses were detected early within 1-2 months of acute clinical hepatitis C. However, only HCV-specific IL-10 response correlated with elevated liver enzymes, increased viremia and suppressed HCV-specific CD4 (+) T-cell proliferation in acute infection.

viremia


Input: In the present study, we have investigated the hyperinsulinaemia/hyperglycaemia-induced epigenetic changes and alteration of Fbn1 (fibrillin 1) and Col3A1 (collagen type & #160; III & #945; 1) gene expression.

hyperinsulinaemia

hyperinsulinaemia


Input: Identification of retroviral RNA in the cerebrospinal fluids and brains of individuals with schizophrenia indicated that the transcriptional activation of the HERV-W elements within the central nervous system could be associated with the brain diseases.

HERV-W

brain diseases


Input: Mutations at codon 12 of Ki-ras or N-ras were detected in three cases (9%): one of six cases of refractory anemia with excess blasts (RAEB) and two of nine cases of chronic myelomonocytic leukemia (CMML).

Ki-ras

refractory anemia with excess blasts


Input: In lung adenocarcinoma patients, CAV-1 expression was positively correlated with lymph node metastasis and cancer stage.

CAV

lung adenocarcinoma


Input: To address this issue, an association study using a 9-bp insertional polymorphism, AGC AGC GGC, between nucleotides 6979 and 6998 of the POMC gene, was performed in 380 (185 girls) Italian obese children and adolescents.

GGC

obese


Input: Foxj1 deficiency resulted in multiorgan systemic inflammation, exaggerated Th1 cytokine production, and T cell proliferation in autologous mixed lymphocyte reactions.

inflammation


Input: We report here the functional analysis of the NUP98-coiled-coil domain-containing protein 28A (NUP98-CCDC28A) fusion protein, expressed as the consequence of a recurrent t (6; 11) (q24. 1; p15. 5) translocation.

translocation


Input: Ratio of surviving neurons (median, [range]) in hippocampal CA1 seven days after ischemia was significantly higher in the ONO-5046 5 mg/kg (31% [12-57%]), and 10 mg/kg groups (69% [39-76%]) than in the control group (3. 2% [0-10%]).

ischemia


Input: However, TGIF1 mutations have also been reported in normal individuals and in patients with mental retardation or showing a very mild phenotype, suggesting the characteristic of incomplete penetrance and variable expressivity.

variable expressivity


Input: We describe a French family presenting an intrafamilial overlapping clinical phenotype of CINCA and Muckle-Wells syndrome, caused by a mutation in CIAS1 gene.

CINCA

CINCA


Input: We study the effect of EMB on mitochondrial metabolism in fibroblasts from controls and from a man carrying an OPA1 mutation, in whom the drug induced the development of autosomal dominant optic atrophy (ADOA).

EMB

autosomal dominant optic atrophy


Input: AMP-activated protein kinase (AMPK) regulatory gamma2 subunit (PRKAG2) mutations cause a human cardiomyopathy with cardiac hypertrophy, preexcitation, and glycogen deposition.

cardiac hypertrophy


Input: Furthermore, blunted beta2 adrenergic-mediated myocardial contractile response in patients with Ile-164 variant seems to adversely modulate the course of congestive heart failure.

congestive heart failure


Input: Therefore, Cp may protect neuronal cells from oxidative stress-induced neurodegeneration.

Cp

neurodegeneration

Cp

neurodegeneration


Input: In addition, LTR-SHH skin displays the gene expression abnormalities previously described for human BCCs, including decreased BP180/BPAG2 and laminin 5 adhesion proteins and expression of basal epidermal keratins.

SHH

adhesion


Input: To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive external ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were screened.

sporadic


Input: Analysis of p27 and Ki-67 expression levels might indicate that low proliferating activity of desmoid fibroblasts is connected with another mechanism than the one, in which p27 takes part.

desmoid


Input: According to this model, most of the mutations known to affect residues of the NBD are clustered on one side of this domain in a region predicted to participate in intermolecular contacts, suggesting that this model is likely to be biologically relevant and that defects in nucleotide binding, nucleotide hydrolysis, or protein oligomerization may lead to the functional dysregulation of cryopyrin in the MWS, FCU, and CINCA/NOMID disorders.

cryopyrin

CINCA/NOMID

cryopyrin

CINCA/NOMID


Input: To investigate the association between osteoprotegerin (OPG), receptor activator of nuclear factor-kappaB (RANK), and RANK ligand (RANKL) gene polymorphisms and circulating OPG, soluble RANKL (sRANKL) levels, and bone mineral density (BMD) in Korean postmenopausal women.

RANKL

bone mineral density


Input: We also analyzed WIF-1 and SFRPs promoter methylations in 46 mesothelioma tissues, 8 mesothelioma cell lines by methylation-specific polymerase chain reaction (MSP).

MSP

mesothelioma


Input: The role of HLA DQ2 and DQ8 in dissecting celiac-like disease in common variable immunodeficiency.

common variable immunodeficiency


Input: We verified that the silence of RACK1 gene in two OSCC cell lines could not only inhibit cell proliferation but also decrease the invasion, migration and adhesion capability of the tumor cells.

RACK1 gene

adhesion


Input: TSG-deficient thymus was atrophic, and phosphorylation of SMAD1 was augmented in the thymocytes, suggesting enhanced BMP-4 signaling in the thymus.

TSG

atrophic


Input: Dysbindin is widely expressed in the human brain and binds to the dystrophin-associated protein complex (DPC) which appears to be involved in signal transduction pathways, which have been repeatedly investigated and described as altered or disturbed in affective disorders [McLeod et al.

Dysbindin

affective disorders

Dysbindin

affective disorders


Input: Incubation with trichostatin A (TSA), a histone deacetylase inhibitor, induced acetylation of histone 4 of the GluR2 locus in glioma cells, leading to an upregulation of GluR2 expression.

glioma


Input: MiR-195 affects cell migration and cell proliferation by down-regulating DIEXF in Hirschsprung' s disease.

Hirschsprung' s disease

Hirschsprung' s disease


Input: SNP rs761142 T > G, in glutamate cysteine ligase catalytic subunit (GCLC), was significantly associated with SMX-induced hypersensitivity, with an adjusted p value of 0. 045.

GCLC

hypersensitivity


Input: We found that AAV-mediated overexpression of NPY in the DMH of lean rats increased food intake and body weight, and exacerbated high-fat diet-induced obesity.

AAV

body weight


Input: There was no evidence for interaction between the polymorphisms and alcohol intake on GGT and ALT levels.

GGT

alcohol intake


Input: Ubiquitin-positive, tau-negative, frontotemporal dementia (FTD) is caused by null mutations in progranulin (PGRN; HUGO gene symbol GRN), suggesting a haploinsufficiency mechanism.

HUGO

frontotemporal dementia


Input: Absent immuno-expression of LDH-B protein (& lt; 10% cells stained), was seen in 23/26 (88%) breast cancer cases, and in 4/8 cases of adjacent ductal carcinoma in situ lesions.

LDH-B

ductal carcinoma in situ

LDH-B

ductal carcinoma in situ


Input: To recognize patients with inhibitory and neutralizing auto-antibodies to interferon-γ (AutoAbs-IFN-γ) presenting with the sporadic phenotype of Mendelian Susceptibility to Mycobacterial Disease (MSMD) mainly characterized by recurrent intracellular mycobacterium or/and salmonella infections, we comprehensively investigated IL12/23-IFN-γ signaling, candidate genetic sequencings or/and protein expressions of IL12RB1, IFNRG1, IL12p40, IFNRG2, STAT1, IKKA, NEMO, CYBB and IRF8 in four patients.

CYBB

sporadic


Input: The novel biomarker panel obtained by combining α-1-antichymotrypsin (AACT), Thrombospondin-1 (THBS1) and this variant peptide showed an excellent diagnostic performance in discriminating pancreatic cancer from healthy controls (AUC = 0. 98) and chronic pancreatitis (AUC = 0. 90).

AACT

chronic pancreatitis


Input: In mouse brain, PRRX1 mRNA was detected in non-dividing OPCs and is upregulated in OPCs following demyelination.

demyelination

demyelination


Input: Polymerase chain reaction was used to amplify the DNA fragments in promoter-75 G > A of ApoAI gene and EcoR I, Xba I and 3'-VNTR of ApoB gene in osteonecrosis patients and healthy controls.

ApoB gene

osteonecrosis


Input: Together these studies identify PTHrP as a potential mediator of the inflammatory and fibrogenic responses associated with alcoholic pancreatitis.

PTHrP

alcoholic pancreatitis

PTHrP

alcoholic pancreatitis


Input: NF-kappaB is activated in experimental models of renal injury, and in vitro studies also suggest that proteinuria and angiotensin II could be important NF-kappaB activators.

NF-kappaB

proteinuria


Input: To identify genes that affect these traits and disorders, we looked for association between markers in candidate genes (apolipoprotein AII (apo AII), apolipoprotein AI-CIII-AIV gene cluster (apo AI-CIII-AIV), apolipoprotein E (apo E), cholesteryl ester transfer protein (CETP), cholesterol 7alpha-hydroxylase (CYP7a), hepatic lipase (HL), and microsomal triglyceride transfer protein (MTP)) and known risk factors (triglycerides (Tg), total cholesterol (TC), apolipoprotein AI (apo AI), apolipoprotein AII (apo AII), apolipoprotein B (apo B), body mass index (BMI), blood pressure (BP), leptin, and fasting blood sugar (FBS) levels.)

apolipoprotein B

blood pressure


Input: Outcome measures included lifetime history of low back and neck pain (using a range of increasingly stringent definitions), MRI scores of disc degeneration in the lumbar and cervical spine, psychological distress as assessed by the General Health Questionnaire (GHQ), and lifestyle variables assessed by questionnaire.

MRI

neck pain


Input: DNAJB11-associated disease is a phenotypic hybrid of ADPKD and ADTKD, characterized by normal-sized cystic kidneys and progressive interstitial fibrosis resulting in late-onset ESRD.

ESRD

ESRD


Input: CCDC88A mutations cause PEHO-like syndrome in humans and mouse.

PEHO-like syndrome

PEHO-like syndrome


Input: Glioblastoma is the most common malignant brain tumour, generated by bulk of malignant cancer stem cells, which express various stem cell factors like CD133, BMI1 and nestin.

malignant brain tumour


Input: A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.

cleidocranial dysplasia

cleidocranial dysplasia


Input: Antigenic peptides have been found associated with heat shock proteins (HSP) including cytoplasmic HSP70 and heat shock cognate protein 70 as well as the endoplasmic reticulum-resident glucose-regulated protein 94.

shock


Input: Since tooth agenesis is commonly found in individuals with cleft lip/palate (CL/P), we used four large cohorts to evaluate if IRF6 and TGFA interaction contributes to CL/P.

TGFA

tooth agenesis


Input: In this study, to determine whether the CEACAM1 is involved in colorectal tumorigenesis, we have investigated the genetic alterations, including mutations and allelic loss, of the CEACAM1 gene in 17 colonic adenomas and 123 sporadic colorectal cancers.

CEACAM1 gene

tumorigenesis


Input: Ewing' s sarcoma/primitive neuroectodermal tumor (EWS/PNET) has a characteristic chimeric oncogene EWS-FLI1, which results from chromosomal translocation t (11; 22), that is believed to initiate tumorigenesis of EWS/PNET.

EWS

chromosomal translocation


Input: Attenuation of renovascular hypertension by cyclooxygenase-2 inhibitor partly through ANP release.

ANP

renovascular hypertension


Input: All patients displayed immunophenotypic and intracellular signaling abnormalities within CD34 (+) CD38 (lo) populations, and several karyotype-and genotype-specific surface marker patterns were identified.

abnormalities


Input: Here we report that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and show that individuals carrying mutations in this gene have abnormal renal magnesium excretion.

hypomagnesemia with secondary hypocalcemia

hypomagnesemia with secondary hypocalcemia


Input: We report evidence that the lipid transporter gene ABCA13 is a susceptibility factor for both schizophrenia and bipolar disorder.

bipolar disorder

bipolar disorder


Input: The identification of UBE3A as an ASPM interactor is not surprising as more than 80% of Angelman syndrome patients have microcephaly.

microcephaly


Input: BACKGROUND: We investigated the association of vascular endothelial growth factor (VEGF) gene polymorphism with recurrent spontaneous miscarriage (RSM).

VEGF

miscarriage


Input: DHA and EPA were both observed to enhance membrane bleb formation and also to induce the expression of p21.

EPA

bleb


Input: The number of putative epitopes within the whole MTB genome which could be bound by any HLA-DR allele (HLA-DR immunome of MTB) was 405, 422 out of 1, 304, 277 possible 9-mers i. e., 31. 08% of the global capability, instead of the expected 35%.

MTB

mers


Input: Children with TPMT * 3A and * 3C had significantly lower leukocyte and neutrophil counts and percentage of target 6-MP dosage, and longer periods with ≥ grade 2 infections, ≥ grade 2 liver toxicity, and chemotherapy interruptions than the children with wild-type TPMT during the first 24 weeks of maintenance therapy.

TPMT

infections


Input: The purpose of this study was to determine whether production of liver metastasis by human colon carcinoma (HCC) cells depends on the response of tumor cells to organ-derived growth factors.

HCC

liver metastasis


Input: In addition to this profoundly debilitating effect on genetic integrity, APOBEC3G/F also appear to inhibit viral DNA synthesis by impeding the translocation of reverse transcriptase along template RNA.

translocation


Input: Using antisense and short hairpin RNA-mediated gene expression knockdown, array analyses, chromatin immunoprecipitation methods, and reexpression studies, we show that caveolin-1 (CAV1) is a new direct target of EWS/FLI-1 that is overexpressed in ESFT cell lines and tumor specimens and is necessary for ESFT tumorigenesis.

tumorigenesis


Input: This study demonstrates that PAR-1 contributes to the development of skin fibrosis and we suggest that PAR-1 potentiates the fibrotic response mainly by inducing fibroblast proliferation and ECM production.

fibrosis


Input: Because nicotine dependence (ND) is highly comorbid with schizophrenia and other substance abuse, we examined the association of HINT1 with ND.

schizophrenia

schizophrenia


Input: Similarly, cardiomyocyte-specific Txnip deletion reduced infarct size after reversible coronary ligation.

Txnip

infarct


Input: The C825T polymorphism of the beta-3 subunit of the protein G (GNB3) has been related to an increased activity of the Na +/H + exchanger (NHE-1) through the synthesis of an anomalous hyperactive protein.

hyperactive


Input: This finding suggests that MIF may be involved in bladder inflammation and may have a role in the peripheral and central nervous system pathways that regulate bladder reflexes in response to bladder inflammation.

MIF

bladder inflammation


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

CCNH

ovarian cancer

CCNH

ovarian cancer


Input: A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.

heavy chain

restrictive cardiomyopathy


Input: Familial hypomagnesemic hypercalciuria and nephrocalcinosis (FHHNC [MIM 248250]) is a rare renal tubular disorder characterized by impaired reabsorption of magnesium and calcium in the thick ascending limb of Henle' s loop (tALH), causing renal magnesium wasting and hypercalciuria.

MIM

nephrocalcinosis


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

TNF-alpha

idiopathic osteoporosis


Input: Taken together, for the first time, we demonstrate that remodeled collagen IV is a potent activator of DDR1 and AKT that also modulates both migration and adhesion of myeloid leukemia cells.

AKT

adhesion


Input: Specific expression of these cytoplasmic variants of MDC2 in human brain and its malignancies is discussed.

malignancies


Input: An ERSE in the GRP78 gene not previously shown to be required for induction by other ER stresses was found to bind ATF6 and to be critical for maximal ischemia-mediated GRP78 promoter induction.

ischemia


Input: P190 BCR/ABL induced lymphoid leukemia with shorter latency than P210 or P230.

lymphoid leukemia


Input: After short-term culturing, none of the samples displayed any t (11; 22) (q24; q12), the translocation characteristically giving rise to the EWS/FLI1 fusion, nor any other type of rearrangement of 11q24 or 22q12.

EWS

translocation


Input: P115 and MIF were both specifically expressed in gastric cancer tissues compared with normal gastric mucosa (both P < 0. 01).

MIF

gastric cancer


Input: Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

fumarylacetoacetase

tyrosinemia type I

fumarylacetoacetase

tyrosinemia type I


Input: We investigated the contribution of a functional SNP in the promoter of the SERPINH1 gene, enriched among those of African ancestry, to preterm premature rupture of membranes (PPROM), the leading identifiable cause of preterm birth.

SERPINH1 gene

preterm birth


Input: Abnormalities in the GHR produce an autosomal recessive form of GH resistance, the Laron syndrome, characterized by growth failure and the clinical appearance of severe GH deficiency despite elevated circulating GH levels.

GHR

Laron syndrome

GHR

Laron syndrome


Input: The birth weight lowering C-allele of rs900400 near LEKR1 and CCNL1 associates with elevated insulin release following an oral glucose challenge.

birth weight


Input: A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.

EVC

Ellis-van Creveld syndrome

EVC

Ellis-van Creveld syndrome


Input: Experiments were undertaken to study whether progressive processes of bovine serum albumin (BSA) nephritis in C57BL/B10-BR mice could be prevented by the treatment with methylprednisolone (MPSL), a glucocorticoid.

nephritis


Input: X-linked hypohidrotic ectodermal dysplasia, resulting from mutations in ED1 gene, is the most common form.

hypohidrotic ectodermal dysplasia

hypohidrotic ectodermal dysplasia


Input: The results demonstrate that EBV and CMV infections induce quantitatively and qualitatively different CD8 + T-cell responses in advanced aging.

aging


Input: Here, we report that the recombinational repair gene RAD51B on chromosome 14q23-24 is the preferential translocation partner of HMGIC in uterine leiomyomas.

translocation


Input: While viraemia rebounded to 4. 8 and 4. 6 log (10)/mL at week 12 and 36, respectively, CD4 continued to increase to 136 cells/mm (3) at week 36.

viraemia


Input: In 52 cervical cancer patients treated with neoadjuvant chemotherapy, we investigated whether the levels of phosphorylated Wee1 (pWee1), a key G2/M checkpoint kinase, and γ-H2AX, a marker of DNA double-strand breaks, discriminated between patients with a pathological complete response (pCR) and those with residual disease.

residual disease


Input: The systolic blood pressure (SBP), but not the diastolic blood pressure (DBP), was significantly lower in our female vs male group.

DBP

systolic blood pressure


Input: Effect of the functional VEGFA-583C/T variant on vascular endothelial growth factor levels and the risk of recurrent spontaneous miscarriage.

VEGFA

miscarriage


Input: Increased MMA concentration and body mass index are associated with spontaneous abortion in Brazilian women: a pilot study.

MMA

body mass index


Input: The identification of additional CF-causing mutants with normal Cl-channel activity indicates, however, that other CFTR-dependent processes contribute to the disease.

CFTR

CF

CFTR

CF


Input: CDNA expression array analysis revealed increased manganese superoxide dismutase (SOD-2) expression in the mac25/IGFBP-rP1-transfected M12 human prostate cancer cell line compared to M12 control cells.

prostate cancer

prostate cancer


Input: D rats displayed larger infarct size accompanied by decreased phosphorylation of Akt, STAT3 and decreased cardiac nitric oxide (NO) and APN levels.

infarct


Input: With four regression models obtained, two SNPs rs9468925 in HLA-C/HLA-B and rs2858881 in HLA-DQA2 were repeatedly selected in all models, suggesting that multiple loci outside PSOR1 locus were associated with psoriasis.

regression


Input: Our analysis identified several novel dysregulated genes and miRNAs in ASD compared with controls, including HEY1, SOX9, miR-486 and miR-181b.

ASD

ASD


Input: All PGAs in LS patients were MSI-high and lost expression of mismatch-repair proteins (MLH1/PMS2 in 2 cases and MSH2/MSH6 in 1 case), whereas none of the 14 sporadic PGAs was MSI-high or had lost expression of mismatch-repair proteins.

sporadic


Input: " Single nucleotide polymorphisms of the OPG/RANKL system genes in primary hyperparathyroidism and their relationship with bone mineral density ".

RANKL

bone mineral density


Input: Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

aniridia

aniridia


Input: We investigated whether MC4R variants identified from obese patients with binge eating disorder (T11A, F51L, T112M, and M200V) and variants identified in nonobese (I102T, F202L, and N240S) or obese (I102S, A154D, and S295P) subjects cause loss-of-function and what are the defects.

binge eating disorder


Input: The present study evaluates the concurrent influence of age and body mass index (BMI) on GGT in a sample of 133 high functioning young men, with detailed assessment of the pattern of alcohol use at ages 20 [time 1 (T1)], 30 [time 2 (T2)], and 35 [time 3 (T3)].

GGT

alcohol use


Input: A consistent significant association was detected between the FSHR Ser680 allele and lower total testes volume in both, the Baltic cohort (p = 0. 010, effect =-1. 16 mL) and Estonian idiopathic infertility group (p = 0. 007, effect =-1. 77 mL).

FSHR

infertility


Input: Nrf2 regulates hyperoxia-induced Nox4 expression in human lung endothelium: identification of functional antioxidant response elements on the Nox4 promoter.

hyperoxia


Input: Induction of the interleukin-2/15 receptor beta-chain by the EWS-WT1 translocation product.

EWS

translocation


Input: Progestins activate the AKT pathway in leiomyoma cells and promote survival.

AKT

leiomyoma


Input: Hepatocerebral MDS, caused by mutations in DGUOK, MPV17, POLG, or C10orf2, commonly have an early-onset liver dysfunction and neurological involvement.

liver dysfunction


Input: Nine myeloid leukemia cells lines and four nonmyeloid leukemia cell lines were incubated with 0. 7 nmol/L of 125I-GM-CSF in the presence or absence of excess cold GM-CSF and bound label measured.

GM-CSF

cold


Input: Our findings may also implicate the whole family of HERG channels (HERG1, HERG2 and HERG3) in the pathogenesis of psychosis and its treatment.

psychosis

psychosis


Input: Morpholino knockdown of the zebrafish homologue dachsous1b resulted in a cardiac atrioventricular canal defect that could be rescued by wild-type human DCHS1, but not by DCHS1 messenger RNA with the familial mutation.

atrioventricular canal defect


Input: In this study, we have explored changes in the expression of telomere-associated genes POT1, TIN2, RAP1 and TPP1, in patients with monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma (MM).

myeloma


Input: CGI in 5' upstream regions of 20 genes, TSPAN-2, AK5, LOC284999, HOXD11, FLJ25161, XT3, PCDH10, PCDHGB6, SIM1, LOC346978, COE2, TDH (FLJ25033), LOC346419, FLJ33790, GJB2, AMN, LOC201164, DLX4, DCC and FOXA2, were found to be methylated in at least one of 8 breast cancer cell lines.

breast cancer

breast cancer


Input: These data therefore indicate a common mode of regulation for both p73 forms by hypoxia, resulting in the promotion of angiogenesis and tumor growth, highlighting common functionality of these antagonistic proteins under specific physiological contexts.

hypoxia


Input: To investigate the effect of CDH1 3'-UTR + 54C/T single nucleotide polymorphism (SNP) on expression of luciferase reporter gene and its association with susceptibility to cervical cancer.

UTR

cervical cancer


Input: Overexpression of Ets-1 markedly enhanced BMP4 promoter activity, while antisense Ets-1 almost completely abolished basal as well as hypoxia-induced BMP4 expression.

hypoxia


Input: Here, we investigated the effects of inflammation on PAK1 signaling and its role in colitis-driven carcinogenesis.

inflammation


Input: However, the mechanism underlying the down-regulated expression of RhoE in gastric cancer has not been elucidated yet.

RhoE

gastric cancer


Input: Compared with the other human leukocyte antigen (HLA) genes, few studies have evaluated the role of HLA-DP genes in cervical cancer pathogenesis.

HLA-DP

cervical cancer


Input: SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.

Leigh syndrome

Leigh syndrome


Input: We conclude that sporadic renal angiomyolipoma usually have mutations in TSC2, but not TSC1 or RHEB, and have no other common genomic events, among those we searched for.

RHEB

renal angiomyolipoma


Input: SELP is located on the surface of endothelial cells and crucial for recruitment, adhesion, and migration of inflammatory cells into the joint.

SELP

adhesion


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

depression

depression


Input: Interactive effects between HNF1A variants and weight status on risk of T2DM or dysglycaemic status were determined.

weight


Input: p53 deficiency is highly cooperative with both Brca1 and Brca2 in promoting tumorigenesis.

tumorigenesis


Input: Given the genomic localization of DOK2, we propose it as an 8p21. 3 haploinsufficient human lung tumor suppressor.

lung tumor

lung tumor


Input: These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia.

alternating) hemiplegia

alternating) hemiplegia


Input: This suggests that GLRA4 is the plausible candidate gene for cognitive impairment, behavioral problems and craniofacial anomalies observed in DGDP084.

behavioral problems


Input: Human TRPA1 can functionally substitute for worm TRPA-1 in promoting longevity.

worm


Input: Secretory phospholipase A2 (sPLA2) and matrix metalloproteinase (MMP) inhibitors are potent modulators of inflammation with therapeutic potential, but have limited efficacy in rheumatoid arthritis (RA).

inflammation


Input: Lack of post-ischemic induction of protein inhibitor of neuronal nitric oxide synthase in CA1 pyramidal neurons may result in high nitric oxide synthase activity after global ischemia and could contribute to delayed neuronal cell death.

ischemia


Input: Here we show for the first time that variations in the XYLT-II gene are genetic co-factors in the severity of PXE.

XYLT-II

PXE

XYLT-II

PXE


Input: An analog of coenzyme Q targeted to mitochondria and superoxide dismutase overrode inhibition of MM cell proliferation by alpha-TOS as well as alpha-TOS-induced inhibition of egr-1-dependent transactivation.

MM

MM


Input: In a case-control analysis (controlled for smoking, gender and age) mean bone loss showed a significant difference between the 2 NAT2-type groups (Mann-Whitney test p = 0. 041).

smoking


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

NET

convulsions


Input: Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy.

CMTX

CMTX


Input: Our results provide evidence of epigenetic alterations in non-atrophic chronic gastritis and intestinal metaplasia and suggest that hsa-miR-29c and hsa-miR-135b are promising biomarkers of gastric carcinogenesis.

chronic gastritis


Input: Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.

congenital primary aphakia

congenital primary aphakia


Input: Perhaps conflicting with common suspicions, the data are not compatible with selective pressures during tumorigenesis promoting the functional loss of BRCA2 and MRE11 in MSI tumors.

tumorigenesis


Input: In univariate analysis, visfatin level correlated with levels of GFR (rho =-0. 22; P = 0. 001), interleukin 6 (IL-6; rho = 0. 17; P = 0. 01), high-sensitivity C-reactive protein (rho = 0. 14; rho < 0. 05), and soluble vascular cell adhesion molecule 1 (sVCAM-1; rho = 0. 39; P < 0. 0001), but not total or truncal fat mass, insulin resistance, or hemoglobin A (1c) level.

C-reactive protein

insulin resistance


Input: In both models, there is inflammation and evidence of a Th1-like response in the large intestine, characterized by CD4 + T-cell and macrophage infiltrates, and elevated levels of interferon-gamma.

inflammation


Input: Thus, after obtaining clinical information, screening for mutations in (1) parkin, (2) PINK1, (3) DJ-1, (4) ATP13A2 should be conducted in that order, in ARP and sporadic parkinsonism, based on their reported frequencies.

sporadic


Input: To shed some light on mechanisms with a potential to lead to apoptotic death of human neurones following ischemic/hypoxic injury, we examined the immunoreactivity of hippocampal neurones for PLSCR1, caspase-3, cytochrome c and DNA-fragmentation in 22 individuals with clinically symptomatic cerebral ischemia after cardiac arrest or severe hypotension.

cardiac arrest


Input: Carriers of c. 454-397T/T or c. 454-397T/C genotypes had significantly (p = 0. 002 and p = 0. 004, respectively) higher mean systolic blood pressure (SBP), than carriers of c. 454-397C/C, and a similar relationship was observed for diastolic blood pressure (DBP).

DBP

systolic blood pressure


Input: Significant associations between different stereotyped HCDR3 sequences and molecular prognostic factors, such as CD38 and ZAP-70 expression, IGHV mutational status and genomic abnormalities were found.

abnormalities


Input: Among these, six full-term human placentas, three complete hydatidiform moles, and three choriocarcinoma tumors were examined for expression of the homeobox HOX A11, HOX B6, and HOX C6 gene products, using immunohistochemistry staining methods.

C6 gene

tumors


Input: Infant NAT2 acetylator status did not appreciably affect susceptibility of the fetus to the teratogenic effects of maternal smoking.

smoking


Input: The proliferation, in vitro tumorigenesis (colony-formation) ability as well as cell migration was significantly suppressed after GBC-SD cells which were infected with ZFX-siRNA-expressing lentivirus (Lv-shZFX).

ZFX

tumorigenesis


Input: Southern blotting analysis of malignant cell DNAs prepared from a series of acute lymphoblastic leukemia cases with translocations involving chromosome arm 12p, as well as a group of acute myeloid leukemias with various cytogenetic abnormalities, failed to reveal MLF2 gene rearrangements.

MLF2 gene

acute lymphoblastic leukemia


Input: Recently, the use of whole-genome sequencing has helped to identify a highly recurrent somatic mutation, myeloid differentiation factor 88 [MYD88] L265P in WM.

somatic mutation


Input: The expression of STARD3 was observed in the gastric parietal cells and in gastric tumor tissues and significantly correlated with gender (P = 0. 004), alcohol drinking (P < 0. 001), tumor location (P = 0. 007), histological type (P = 0. 005) and differentiation (P = 0. 023) in GC.

alcohol drinking


Input: These results indicate that, unlike human cathelicidins and beta-defensins which are inducible peptides that primarily function in response to injury and inflammation, DCD is exclusively part of the constitutive innate defence of human skin.

DCD

inflammation


Input: Immunohistochemically, strongly positive staining of OPG was found in 65% (67/103) of gastric carcinomas, whereas OPG protein was not detected in non-neoplastic mucosal epithelia.

OPG

carcinomas


Input: Mutation 926delA of the SAG gene is the main cause of Oguchi disease in Japanese.

SAG

Oguchi disease

SAG

Oguchi disease


Input: The Role of TSLP in IL-13-induced atopic march.

atopic


Input: The joint effects in the highest risk category (NAT2 slow acetylator, NAT1 fast acetylator, and current or ever cigarette smoking) as compared with the reference category (NAT2 fast acetylator, NAT1 slow acetylator, and never smoking) were associated with an odds ratio of 2. 73 (95% CI: 1. 70, 4. 31).

smoking


Input: Pin1 binds HBx to enhance hepatocarcinogenesis in HBV-infected hepatocytes.

hepatocarcinogenesis


Input: PON1 A (-162) G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipoprotein cholesterol (HDLC), waist circumference (waist), and duration of diabetes were included in the regression analysis with log (e) (ln) of PON1 mass as the dependent variable.

waist circumference


Input: Of 34 informative cases of head and neck squamous cell carcinoma, 68% of tumors showed loss of heterozygosity at chromosome 13q33-34, where the ING1 gene is located.

head and neck squamous cell carcinoma

head and neck squamous cell carcinoma


Input: Our results demonstrate for the first time that common variants in BRCA2 and MAP2K4 are susceptibility to sporadic pancreatic cancer.

sporadic


Input: A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.

facies

facies


Input: TMEM25, REPS2 and Meis 1 expression was investigated by qRT-PCR, in triplicate, in 103 breast tumour biopsies procured in 1993-1994.

breast tumour

breast tumour


Input: A combination of the ITPA genotype with baseline haemoglobin (Hb) and creatinine clearance (CLcr) levels predicted severe anaemia with high accuracy (90% sensitivity and 62% specificity).

CLcr

anaemia


Input: We propose that ATL cells proliferate in sequential events: the homotypic and calcium-dependent adhesion through LFA-1/ICAM-1, the signal transduction through these adhesion molecules, the production of cytokines, and the proliferation.

adhesion


Input: Therefore, this is the first evidence that ethanol may alter FAS-associated embryonic brain development through the alteration of Bax and Bcl-2 expression.

FAS

FAS


Input: In this study, lymph node biopsies from eight HIV-infected patients with persistent generalized lymphadenopathy syndrome (PGL) were assessed for IL-1 beta, IL-2, IL-4, IL-6, IL-10, interferon-gamma (IFN-gamma) and tumour necrosis factor-beta (TNF-beta) gene expression using the polymerase chain reaction (PCR).

lymphadenopathy syndrome


Input: Similarly, pancreatitis (n = 17), pancreatic intraepithelial neoplasia (n = 80), and pancreatic adenocarcinoma (n = 67) showed a significant up-regulation of FGF-BP1 compared with normal pancreas (n = 42; all P < 0. 0001, relative to normal).

pancreatic adenocarcinoma


Input: WT and mutant Gα11 proteins causing FHH2, ADH2 or uveal melanoma were transfected in CaSR-expressing HEK293 cells, and Ca (2 +) i and ERK phosphorylation responses measured by flow-cytometry and Alphascreen immunoassay following exposure to extracellular Ca (2 +) (Ca (2 +) o) and allosteric modulators.

ERK

uveal melanoma


Input: Corticotropin-releasing hormone-induced electrographic and behavioral seizures originate in the amygdala.

Corticotropin-releasing hormone

seizures

Corticotropin-releasing hormone

seizures


Input: Formalin-fixed, paraffin-embedded tissue from 19 myelolipomas was stained with hematoxylin and eosin and immunostained with monoclonal antibodies against CD138, CD34, CD117, CD42a, hemoglobin, myeloperoxidase, collagen IV, and nerve growth factor receptor.

hemoglobin


Input: The individual correlation analyses of functional readouts (erythema and pain response) with local expression changes provided evidence for a potential role of Nav1. 7 in mechanical hyperalgesia.

Nav1. 7

mechanical hyperalgesia


Input: Here we apply the pathway-focused approach to an association study of hypertension, systolic blood pressure (SBP), and diastolic blood pressure (DBP) in 1614 Nigerians with genome-wide data.

DBP

systolic blood pressure


Input: Nonetheless, primordial aspects of the pathogenesis of CML, such as the mechanisms responsible for the transition from chronic phase to blast crisis, the causes of genomic instability and faulty DNA repair, the phenomenon of stem cell quiescence, the role of tumor suppressors in TKI resistance and CML progression, or the cross-talk between BCR-ABL1 and other oncogenic signaling pathways, still remain poorly understood.

BCR

genomic instability


Input: We demonstrated the relevance of this mechanism in humans by showing that pharmacological inhibition of NKCC2 was more effective in lowering blood pressure in hypertensive patients who are homozygous for UMOD promoter risk variants than in other hypertensive patients.

blood pressure


Input: VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.

autophagic vacuolar myopathy

autophagic vacuolar myopathy


Input: A 1. 02-kb genomic deletion in the Batten disease gene CLN3 has been determined to be a common mutation.

Batten disease

Batten disease


Input: In the melancholic subgroup, AVP mRNA expression was significantly increased in both the SON and the PVN compared with control subjects.

AVP

melancholic

AVP

melancholic


Input: In the present study, we found that glycitein, a bacterial metabolite of the isoflavone glycitin, inhibits the expression of MMP-3 and MMP-9 at promoter, mRNA, and protein levels in PMA-stimulated U87MG human astroglioma cells.

astroglioma

astroglioma


Input: Our results suggest that TMEM25, REPS2 and Meis 1 mRNAs may be useful members of a panel of favourable prognostic and predictive markers for breast cancer and an understanding of their function may provide useful information about this disease.

breast cancer

breast cancer


Input: BRCA2 tumors present a phenotype opposite to BRCA1 tumors but very similar to sporadic tumors, except that BRCA2 overexpress some DNA repair markers such as CHEK2, show high cytoplasmic expression of RAD51, and are negative for HER-2 amplification and expression.

sporadic


Input: We hypothesized that antiplatelet drugs might interfere with gastric ulcer healing by suppressing the release of growth factors, such as vascular endothelial growth factor (VEGF), from platelets.

vascular endothelial growth factor

gastric ulcer

vascular endothelial growth factor

gastric ulcer


Input: Here, we show that bone marrow-derived M-CSF-dependent macrophages (BMMs) from the heterozygous cherubism mutant (Sh3bp2 (KI/+)) mice are highly responsive to TNF-α and can differentiate into osteoclasts independently of RANKL in vitro by a mechanism that involves spleen tyrosine kinase (SYK) and phospholipase Cγ2 (PLCγ2) phosphorylation, leading to increased nuclear translocation of NFATc1.

M-CSF

cherubism


Input: Two of four siblings expressed the salt-losing form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) and had identical human lymphocyte antigen (HLA) and complement C4 (fourth component of complement) types (HLA-A3, C4, B35, C4A3, C4BQO, DR1/A2, C-, B18, C4A3, C4BQO, DR6).

21-hydroxylase deficiency


Input: Our results indicate that MKP-1, the natural regulator of p-p38, mediates resolution of the spinal cord pro-inflammatory milieu induced by peripheral nerve injury, resulting in prevention of chronic mechanical hypersensitivity.

hypersensitivity


Input: We describe the clinical features in two sisters with APSS, associated with a novel large homozygous deletion encompassing exon 1 of CSTA.

CSTA

APSS

CSTA

APSS


Input: We investigated GDAP1 expression in the nervous system and dorsal root ganglia (DRG) neuron cultures.

nervous system