Input: The proposed model states that the RER + carcinogenesis is divided into two clearly distinct evolutive phases: (1) a preliminary phase starting with the counter-selective loss of mismatch repair function, in which most clones with the RER mutator phenotype are eliminated through apoptosis or an accelerated aging process; (2) an explosive phase that is initiated only if mutations blocking apoptosis and senescence, rapidly acquired during the short life span of the nontransformed RER + clones, eventually rescue one RER + cell that gives rise to the malignant clone.

RER

carcinogenesis


Input: Thus hepadnavirus infection may play an important role in the development of HCC by causing chronic hepatitis and HCC with the same mechanisms by which other risk factors for HCC cause chronic necroinflammatory liver disease and HCC.

HCC

chronic hepatitis


Input: A sporadic RP was found carrying a sequence variant of PDE6B gene, a G to C transversion in intron 18, the 15th base adjacent to the 3' end of exon 18.

PDE6B gene

sporadic


Input: As roles for 5-HT7 receptors in anxiety and depression were recently established, the current findings have implications for understanding the high anxiety and depressive-like phenotype of SERT-deficient mice.

depression

depression


Input: Electrophoretic mobility shift assays and immunodepletion assays were used to further define the interaction of Ref-1 with specific AP-1-binding proteins under hypoxic conditions.

hypoxic


Input: TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.

infantile myoclonic epilepsy

infantile myoclonic epilepsy


Input: MIB 1 immunostaining in cervical intraepithelial neoplasia: prognostic significance in mild and moderate lesions.

MIB

mild


Input: Lipopolysaccharide-binding protein, a surrogate marker of microbial translocation, is associated with physical function in healthy older adults.

Lipopolysaccharide-binding protein

translocation


Input: Inhibition by specific PLB1 antibodies, or inhibitors of phospholipase B (PLB), but not lysophospholipase (LPL) or lysophospholipase transacylase (LPTA) activities decreased the adhesion of H99 and deltaplb1rec by 33-58%.

PLB

adhesion


Input: HLA DR5 was associated with relapsing thyrotoxicosis, whereas HLA DR7 and B12 were negatively correlated with relapse.

thyrotoxicosis


Input: The frequency of obesity (BMI ≥ 25 kg/m (2)) in CC genotype carriers was significantly greater than in T allele carriers (31. 8% vs 21. 5%), but the frequency of central obesity (WC ≥ 85 for men and WC ≥ 90 cm for women) was not significant by CNR1 4895 C/T genotype.

central obesity


Input: Lymphocytic infiltration is the most common histologic feature observed in primary mediastinal seminoma and both OCT4 immunostain and FISH for 12p abnormalities can be very helpful in diagnosing mediastinal seminoma.

FISH

mediastinal seminoma


Input: Altered intra-amniotic levels of anti-inflammatory cytokines, interleukin (IL) 1ra and IL-4, and beta2-adrenergic receptor (beta2AR) production have been associated with preterm labor and delivery.

preterm labor


Input: The polymorphisms of codon 727 and 52 of thyroid-stimulating hormone receptor gene are not associated with mitral valve prolapse syndrome in Taiwan Chinese.

hormone receptor

mitral valve prolapse syndrome


Input: We demonstrated that prolonged arginine starvation by exposure to ADI-PEG20 (pegylated arginine deiminase) induced autophagy-dependent death of ASS1-deficient breast cancer cells, because these cells are arginine auxotrophs (dependent on uptake of extracellular arginine).

breast cancer


Input: The CYP2B6 * 6 allele is associated with a substantial decrease in steady-state ketamine plasma clearance in chronic pain patients.

chronic pain


Input: Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.

colorectal cancer

colorectal cancer


Input: The activated leukocyte cell adhesion molecule (ALCAM) is involved in cell migration and adhesion.

ALCAM

adhesion


Input: Somatic mutations in BRCA1 and BRCA2 have not been found and the involvement of these genes in sporadic tumour development therefore remains unclear.

sporadic


Input: The expression of LSD1 which mainly located in nuclei of cancer cells significantly increased in bone marrows of bone cancer pain rats from 14 d to 21 d after inoculation.

cancer pain


Input: The aim of this study is to investigate whether the BDNF Val66Met polymorphism plays a role in endometriosis, endometriosis-related infertility and the outcomes of IVF and embryo transfer (IVF-ET).

BDNF

infertility


Input: Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.

Ganglioside-induced differentiation-associated protein-1

Charcot-Marie-Tooth disease type 4A

Ganglioside-induced differentiation-associated protein-1

Charcot-Marie-Tooth disease type 4A


Input: Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

porphobilinogen deaminase

acute intermittent porphyria

porphobilinogen deaminase

acute intermittent porphyria


Input: To determine whether cytokines are generated in vivo in subjects with asthma, we have measured cytokine levels (tumor necrosis factor [TNF], granulocyte-macrophage-colony-stimulating factor [GM-CSF], interleukin [IL]-1 alpha, IL-1 beta, IL-2, IL-4, and IL-6) in the airways of subjects with symptomatic (N = 24) and asymptomatic (N = 9) asthma with immunoassays (GM-CSF, IL-1 alpha, IL-1 beta, IL-2, and IL-4) or bioassays (TNF and IL-6) and the polymerase chain reaction (IL-1 beta and TNF).

asymptomatic


Input: Targeted knockdown of PFKFB3 also limited cell growth under normoxic and hypoxic conditions and blocked in vivo tumor formation in mice.

hypoxic


Input: We examined whether TH1-and TH2-type cytokines are expressed by atopic asthmatic sensitized ASM and serve to autologously regulate the proasthmatic phenotype in the sensitized ASM.

atopic


Input: The association of RAD52-rs3748522 with SGC was strongest for mucoepidermoid carcinoma (OR = 2. 21, 95% CI: 1. 55-3. 15, P = 1. 25 × 10 (-5), n = 74), and the association of XRCC4-rs13180356 with SGC was strongest for adenoid cystic carcinoma (OR = 0. 60, 95% CI: 0. 42-0. 87, P = 6. 91 × 10 (-3), n = 123).

adenoid cystic carcinoma


Input: These results reveal a presynaptic-and translation-independent function of FMRP that is linked to a specific subset of FXS phenotypes.

FMRP

FXS

FMRP

FXS


Input: Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.

acid sphingomyelinase

type A Niemann-Pick disease

acid sphingomyelinase

type A Niemann-Pick disease


Input: The neuroprotective role of attractin in neurodegeneration.

attractin

neurodegeneration

attractin

neurodegeneration


Input: We found that SIRT1 overexpression prevented TNF-α-and high-glucose-dependent nuclear factor-κB (NF-κB)-p65 acetylation, E-selectin promoter activity, E-selectin release and adhesion of THP-1 cells to HUVECs.

NF-κB

adhesion


Input: Novel genes associated with SLE susceptibility included two transcription factors (EHF and MED1), two components of the NF-κB pathway (RASSF2 and RNF114), one gene involved in adhesion and endothelial migration (CNTN6) and two genes involved in antigen presentation (BIN1 and SEC61G).

NF-κB

adhesion


Input: The aim of the current study was to investigate the frequency of these BRCA1 and BRCA2 mutations in southern Iranian familial and sporadic cases with breast cancer. Two hundred fifty women with sporadic breast cancer, 55 women with a familial history of breast cancer in their first degree-relatives and 200 healthy women formed the studied groups.

sporadic


Input: To characterize in detail the phenotype of five unrelated families with autosomal dominant bull' s eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene.

PROM1 gene

bull' s eye maculopathy


Input: Polymorphisms in ADCY8 and ADCY5 and within a lincRNA are associated with an alcohol-dependent phenotype in females, which is distinguished by comorbid signs of depression.

depression

depression


Input: We tested the hypothesis that mutations in NR5A1 and PIN1 cause disorders in gonadotropin-gonadal system development and function, throught direct DNA sequencing of the coding sequence and splice-sites of NR5A1 and PIN1 in 50 subjects with sporadic idiopathic hypogonadotropic hypogonadism.

idiopathic hypogonadotropic hypogonadism


Input: Correlation of p53 mutations with epidermal growth factor receptor overexpression and absence of mdm2 amplification in human esophageal carcinomas.

esophageal


Input: In other studies, we show that the small-molecule p38 inhibitors SD-282 and SCIO-469 potentiate As (2) O (3)-mediated suppression of myeloid leukemic progenitor growth from CML patients, indicating a critical regulatory role for p38 in the induction of antileukemic responses.

CML

CML


Input: Using tissue microarrays we examined both nuclear and cytoplasmic levels of MMR proteins MSH2, MSH6, MSH3, MLH1 and PMS2 in more than 200 cases of cutaneous SCC and basal cell carcinoma (BCC).

basal cell carcinoma


Input: We report (a) previously unknown high-frequency copy-neutral LOH (uniparental disomy) in FL on chromosomes 1p (approximately 50%) and 6p (approximately 30%); (b) that del6q is complex, as reported, with at least two regions of minimal common loss at 6q13-15 and 6q23-24, and that in addition, approximately 8% of FL specimens contain a homozygous deletion at 6q23. 3-24. 1 that spans the negative NFkappaB regulator A20 and the p53 apoptosis effector PERP; (c) that combined analysis of chromosome 17p for LOH, copy number, and p53 mutations shows that most p53 mutations in FL do not involve del17p.

PERP

uniparental disomy


Input: Tumour necrosis factor-alpha gene polymorphisms in Iranian patients with biliary atresia.

alpha gene

biliary atresia


Input: Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene.

IM

IM


Input: Enhanced expression of BCL2/adenovirus EIB 19-kDa-interacting protein 3 mRNA, a candidate for intrinsic depression-related factor, and effects of imipramine in the frontal cortex of stressed mice.

depression

depression


Input: Other human postthymic leukemias, such as T-prolymphocytic leukemias, involve mostly the CD4 cellular subset and share many similarities to ATLs (aggressive course, cutaneous involvement, CD4 +, CD29 +, CD45RA-phenotype, and alpha-naphthyl-acetate esterase positivity).

leukemias


Input: Stress or heat shock proteins (HSPs) such as HSP27 and HSP70 are expressed in response to a wide variety of physiological and environmental insults including heat, reactive oxygen species or anticancer drugs.

shock


Input: The interaction with proinsulin but not insulin remained statistically significant after further adjustment for other factors associated with insulin resistance (triglycerides and BMI) and C-reactive protein (P = 0. 01).

C-reactive protein

insulin resistance


Input: To investigate dynamic changes in the expression of HCN2, HCN4, as well as KCNE1, and KCNE2 mRNA and protein levels in ventricular cells from acute myocardial infarction (AMI) rat hearts.

acute myocardial infarction


Input: None of traditional cardiovascular risk factors, including body mass index, blood pressures, lipids, glucose, C-reactive protein, creatinine, and insulin resistance, was associated with haplogroup I of the Y chromosome in the joint inverse variance meta-analysis.

C-reactive protein

insulin resistance


Input: A comprehensive statistical analysis suggested the set of 19 gene markers, ANKRD28, BHLHE40, CGGBP1, RBSP3, EPHB1, FGD5, FOXP1, GORASP1/TTC21, IQSEC1, ITGA9, LOC285375, LRRC3B, LRRN1, MITF, NKIRAS1/RPL15, TRH, UBE2E2, VHL, WNT7A, to allow early detection, tumor progression, metastases and to discriminate between SCC and ADC with sensitivity and specificity of 80-100%.

tumor progression


Input: Major gene families implicated in malignancy by over-expression in carcinomas included the annexins (annexin A1 and A4) and Stat family of transcription factors (Stat3 and Stat5a).

annexin A1

carcinomas

annexin A1

carcinomas


Input: We found that ASXL3 interacts with BAP1, a hydrolase that removes mono-ubiquitin from histone H2A lysine 119 (H2AK119Ub1) as a component of the Polycomb repressive deubiquitination (PR-DUB) complex.

mono


Input: Since CGRP has potent vasodilatory activity, it has long been considered to be involved in aggravation of inflammation such as tissue hyperemia and edema.

CGRP

hyperemia


Input: Thus our data suggest that Akt2/B23 functions as an oncogenic unit to drive tumorigenesis of A549 lung cancer cells.

tumorigenesis


Input: And our results indicated that adenovirus-delivered shRNA may serve as a novel therapeutic for HCC.

HCC

adenovirus


Input: Three members of the caspase recruitment domain (CARD) family of adaptors (CARD9, CARD10, and CARD11) are known to form heterotrimers with B-cell lymphoma 10 (BCL10) and mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (MALT1).

mucosa-associated lymphoid tissue lymphoma


Input: In this study, we examined interactions between the Cx37 polymorphism and common risk factors and their associations to early vascular parameters of atherosclerosis: carotid artery intima-media thickness (IMT), and carotid artery compliance (CAC) and brachial artery flow mediated dilatation (FMD).

dilatation


Input: In patients with endometrioid adenocarcinoma, 17 cases showed reduced expression of MRP1/CD9, and 20 cases had reduced expression of integrin alpha3.

endometrioid adenocarcinoma


Input: Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.

cutaneous hyperpigmentation

cutaneous hyperpigmentation


Input: Therefore, whereas genetic disruption of NKX3. 1 in mice leads to PIN, nongenetic mechanisms reduce NKX3. 1 protein levels early in human prostate carcinogenesis, which may facilitate both proliferation and DNA damage in atrophic and PIN cells.

NKX3. 1

atrophic


Input: We were not able to find any correlation among smoking, dietary patterns, parameters of tumor aggressiveness or patient outcome and any NAT2 genotypes or phenotypes considered in separate or in different combinations.

smoking


Input: These results may indicate a role of Cx32 and Cx43 in urethane-induced lung carcinogenesis, since their absence may contribute to the development of urethane induced lung tumors.

lung tumors

lung tumors


Input: Mutations of the MECP2 (methyl-CpG-binding protein) gene mainly cause Rett syndrome but were also shown to be involved in mental retardation.

CpG-binding protein

mental retardation


Input: In this report we analyzed fifteen Japanese familial Alzheimer' s disease (FAD) including 12 early-onset FAD and 13 sporadic AD patients for the mutation of PS-1 gene by direct sequence analysis.

FAD

sporadic


Input: Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.

Zellweger syndrome

Zellweger syndrome


Input: ClC-3 protein may be considered as a potential tumor marker and therapeutic target for human nasopharyngeal carcinoma.

nasopharyngeal carcinoma

nasopharyngeal carcinoma


Input: We encountered two sporadic Japanese patients with Gitelman syndrome and analyzed their TSC gene.

TSC

Gitelman syndrome

TSC

Gitelman syndrome


Input: Genes that are upregulated in sarcoma include MUC4, CD24, FOXL1, ANGPTL2, HIF1α, MDK, cMET, TIMP-2, PRL, PCSK1, IGFR-1, TIE1, KDR, TEK, FLT1 and several microRNAs.

sarcoma


Input: We conclude that clonal karyotypic abnormalities are frequently found in the stem cell-like (CD34 +/CD38-) and more mature (CD34 +/CD38 +) populations of patients with AML, irrespective of the phenotype of the bulk population of leukemic blasts and of the primary or secondary character of the leukemia.

abnormalities


Input: Attention-deficit/hyperactivity disorder (ADHD) comorbid with oppositional defiant disorder (ODD) or conduct disorder (CD) and substance abuse/dependence seems to represent a specific subset within the phenotypic ADHD spectrum.

ODD

substance abuse


Input: These findings indicate that antibodies associated with HITP react with PF4 complexed with heparin in solution or with glycosaminoglycan molecules on the surface of endothelial cells and provide the basis for a new hypothesis to explain the development of thrombocytopenia with thrombosis or disseminated intravascular coagulation in patients sensitive to heparin.

thrombosis

thrombosis


Input: In contrast to the seborrhoeic keratoses and keratoacanthoma, no MSI was observed in two samples from DSP lesional epidermis examined.

DSP

keratoacanthoma


Input: Cardiac MCR mRNA and protein levels increased nearly by 80% after MI and Cap treatment normalized cardiac MCR protein and mRNA expression. Kidney MCR expression was not affected.

MCR

MI

MCR

MI


Input: These results indicate that AM protects against myocardial infarction, arrhythmia, and apoptosis in I/R injury via suppression of oxidative stress-induced Bax and p38 MAPK phosphorylation and activation of the Akt-Bad-Bcl-2 signaling pathway.

arrhythmia


Input: Subjects with the 5A/5A genotype had a higher mean systolic blood pressure (SBP) (+ 4. 2 mmHg) and diastolic blood pressure (DBP) (+ 2. 2 mmHg) compared to subjects with 5A/6A and 6A/6A genotypes.

DBP

systolic blood pressure


Input: This study aimed to investigate whether platelets from patients with AMI increase myocardial injury after ischaemia and reperfusion in isolated rat hearts and the modification of this effect by the P2Y12 receptor antagonist cangrelor and the glycoprotein IIb/IIIa receptor blocker abciximab.

ischaemia


Input: The aim of this study was to investigate polymorphic loci in the FATP4 gene with respect to associations with fasting and postprandial lipid and lipoprotein variables and markers of insulin resistance in 608 healthy, middle-aged Swedish men and to evaluate possible mechanisms behind any associations observed.

insulin resistance


Input: An associated dominant type 2 helper T cell bias in the immunodeficiency case provides a mechanistic explanation for recurrence of infections by pathogens met by Th1-driven responses.

immunodeficiency


Input: We propose the existence of SOX2-expressing ovarian CSCs as a mechanism of tumor aggressiveness and therapy resistance in human SOC.

SOC

aggressiveness


Input: (4) To validate the results screened by proteome research, immunohistochemistry was used to validate several lung adenocarcinoma differentially expressed proteins including 14-3-3 sigma, annexin 1, and manganese superoxide dismutase.

annexin 1

lung adenocarcinoma

annexin 1

lung adenocarcinoma


Input: The pathogenesis of crescentic glomerulonephritis (CGN) involves cellular migration and proliferation in the urinary space, frequently followed by fibrous organization.

CGN

crescentic glomerulonephritis


Input: Dissociation of superoxide dismutase 1 dimers is enhanced by glutathionylation, although the dissociation constants reported to date are imprecise.

superoxide dismutase 1

dissociation


Input: Our study adds DBP to the list of potential genes that contribute to the complex genetic etiology of IBD, and further emphasizes the association between vitamin D homeostasis and intestinal inflammation.

DBP

inflammation


Input: Cytogenetic analysis was performed on 34 osteochondroma specimens from 22 patients with sporadic lesions and 4 patients with HME utilizing standard methodologies.

HME

sporadic


Input: We infected HCC cells (HepG2, Hep3B and Huh7) with an adenovirus expressing SPARC (AdsSPARC) to examine the role of SPARC expression on HCC cells and its effect on tumor aggressiveness.

HCC

aggressiveness


Input: Consistent with nitrosative stress and the deamination of 5-methylcytosine, p53 mutations were also detected in sporadic colon cancer tissue and were associated with iNOS activity in these tissues.

sporadic


Input: BNP is elevated in other cardiac disease states such as the acute coronary syndromes, diastolic dysfunction, atrial fibrillation (AF), amyloidosis, restrictive cardiomyopathy (RCM), and valvular heart disease.

BNP

valvular heart disease


Input: In the present study, we describe the clinical and molecular analysis of two multigenerational families with Best disease and correlate the optical coherence tomography (OCT) findings in asymptomatic and symptomatic subjects carrying BEST1 mutations.

OCT

asymptomatic


Input: In hypertension induced by abdominal aorta coarctation, deficits in aortic vesicular acetylcholine transporter and α7nAChR were present both above and below the coarctation site, indicating that they were independent of the level of arterial pressure itself.

vesicular acetylcholine transporter

coarctation


Input: This enzyme drives irreversible degradation of sphingosine 1-phosphate (S1P), a bioactive lipid associated with resistance to therapeutics in various cancers, including prostate adenocarcinoma.

prostate adenocarcinoma


Input: To understand its neuroprotective effect in vitro, GM-CSF was administered to a glutamate-induced excitotoxicity neuronal injury cell culture model that mimics the pathophysiology of focal hypoxic cerebral injury.

GM-CSF

hypoxic


Input: Antidepressant treatment response across 5-HT1A-1019C/G genotype groups showed no differences in either Major Depressive Episode or major depression between genotype groups, whereas stratification for the melancholic subtype of depression revealed a significantly worse treatment response as conferred by the-1019CC genotype (p = 0. 02).

Major Depressive Episode

Major Depressive Episode


Input: Our results indicate that the GSTM1 null genotype and NAT2 intermediate or slow genotype are associated with an increased risk of urothelial cancer in relation to smoking amounts.

smoking


Input: A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial PSIS.

PSIS

PSIS


Input: In this cross-sectional study we compared the central aortic systolic pressure (CASP), peripheral brachial systolic pressure (PSP), peripheral brachial diastolic pressure (PDP) and augmentation index (AIx) between normotensive offspring of nonhypertensive parents (ONT) and normotensive offspring with at least one hypertensive parent (OHT).

CASP

systolic pressure


Input: Transcription Factor KLF5 Binds a Cyclin E1 Polymorphic Intronic Enhancer to Confer Increased Bladder Cancer Risk.

Bladder Cancer

Bladder Cancer


Input: Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer.

PTCH

nevoid basal cell carcinoma syndrome

PTCH

nevoid basal cell carcinoma syndrome


Input: Despite a similar reduction in HbA (1c) and similar improvement in insulin sensitivity with nutritional therapy, there were no significant changes in muscle AMPK and ACC phosphorylation, or the expression of ADIPOR1, ADIPOR2, PPARGC1 and genes involved in mitochondrial function and fat oxidation.

insulin sensitivity


Input: In 39 sporadic cerebellar medulloblastomas screeened for alterations in the AXIN1 gene, another component of the Wnt pathway, we found missense AXIN1 mutations in two tumours, CCC--> TCC at codon 255 (exon 1, Pro--> Ser) and TCT--> TGT at codon 263 (exon 1, Ser--> Cys).

sporadic


Input: Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation.

cardiac hypertrophy


Input: TAZ has been previously reported to play a role in tumorigenesis in breast cancer, but detailed analyses of the different breast cancer phenotypes have not been conducted thus far.

TAZ

tumorigenesis


Input: The whole genomic region of PRRT2 was sequenced in six Han Chinese families and 15 sporadic cases of PD-related phenotypes.

sporadic


Input: A striking observation from the data set was that tau binding to heat shock protein 70 (Hsp70) decreased, whereas binding to Hsp90 significantly increased.

shock


Input: Whether CDX2 has tumor suppression or tumorigenesis potential remains to be elucidated.

tumorigenesis


Input: In this review, we highlight the current knowledge about the role of CXCR7 in the biologic processes of cancer, including cancer growth, survival, adhesion, invasion, metastasis, angiogenesis, and progression.

adhesion


Input: These results demonstrated that a bicistronic rAd harboring both suicide and chemokine genes in sequence exerted the enhanced, macrophage-dependent, antitumor effects in a model of HCC and support the use of this strategy for the treatment of HCC.

HCC

suicide


Input: We have shown that normal D-dimer levels obtained after the discontinuation of oral anticoagulant treatment (OAT) has a high negative predictive value for recurrent venous thromboembolism (VTE).

OAT

venous thromboembolism


Input: A metabolic switch from GLS2 to GLS1 was observed in a series of tissues representing progressive pathologic states mimicking HCC oncogenic transformation, including normal liver, fibrotic liver, dysplasia nodule, and HCC.

HCC

nodule


Input: On the other hand, L-carnitine decreased fibrinogen, FVII, FDP, PAI-1, MDA, and platelet aggregation and increased PT, aPTT, coagulation time, protein C, ATIII, and antioxidants in diabetic rats.

ATIII

fibrinogen


Input: These findings suggest that genetically mediated alterations in the renin gene may exert a significant influence on alcohol consumption and may be a component in the etiology of alcoholism.

renin

alcoholism

renin

alcoholism


Input: Finally, ABCR-mediated retinal degeneration may result from " poisoning " of the RPE due to A2-E accumulation, with secondary photoreceptor degeneration due to loss of the RPE support role.

RPE

retinal degeneration


Input: HOXD10, HOXD11, HOXD13, CCL8 and LIM homeobox 2 were highly and exclusively expressed in RA and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA.

sarcoglycan-gamma

OA

sarcoglycan-gamma

OA


Input: TGM2 may be involved in dysfunction of the immune system in schizophrenia.

schizophrenia

schizophrenia


Input: Our findings, although based on small numbers, suggest that the oxidative stress genes MPO and CAT may influence the risk of arsenic-induced premalignant hyperkeratotic skin lesions.

CAT

premalignant

CAT

premalignant


Input: Our case-control studies show that polymorphisms at the glutathione S-transferase, GSTP1, locus on chromosome 11q13 may account for variation in host response to oxidative stress, a key component of airway inflammation.

inflammation


Input: Genetic association studies have implicated the TSNAX/DISC1 (disrupted in schizophrenia 1) in schizophrenia (SCZ), bipolar affective disorder (BPAD) and major depression.

major depression

major depression


Input: The purpose of this study was to investigate the role of αB crystallin in sodium iodate (NaIO3)-induced retinal degeneration, a model of AMD in which the primary site of pathology is the RPE.

RPE

retinal degeneration


Input: To determine the specific receptor systems that mediate the interaction of tumor cells with insoluble TSP, the attachment of HT1080 fibrosarcoma and C32 and G361 melanoma cells to TSP-coated discs was studied in the presence of heparin, Arg-Gly-Asp-Ser, or antibodies to glycoprotein (GP) IV (CD36, GPIIIb), a TSP receptor.

fibrosarcoma


Input: To characterize the phenotypic patterns of differentiation in colorectal serrated polyps, we examined the immunohistochemical expression profile of gastric (MUC5AC, TFF1, MUC6, GlcNAcalpha1--> 4Gal--> R, and PDX1) and intestinal (MUC2, TFF3, and CDX2) epithelial markers in 15 hyperplastic polyps (HPs), 29 sessile serrated adenomas (SSAs), 12 traditional serrated adenomas (TSAs), and 16 conventional adenomas (CAs).

polyps


Input: Between January 1991 and August 1997 twenty five patients with advanced acute myeloid (n = 19) or lymphoid (n = 6) leukemia, 11 males and 14 females, age 22 to 41 (median 32) years received MUD (n = 22) or 1-antigen mismatched unrelated donor (n = 3) grafts.

MUD

leukemia


Input: We studied the association between polymorphisms of genes coding for dopamine D (2) (DRD2), dopamine D (3) (DRD3), serotonin 2 (a) (HTR2A), and serotonin 2 (c) (HTR2C) receptors and Antipsychotic-Induced Parkinsonism (AIP), rigidity, bradykinesia, and rest-tremor in African-Caribbeans treated with antipsychotics.

tremor


Input: Data from the second interim analysis indicate that, in the subgroup of patients without co-amplification of topoisomerase 2 (TOPO-2), the arm without trastuzumab (ACT) showed a DFS significantly poorer that in the other arms; moreover, if we consider the lower toxicity of TCH regimen in comparison with anthracycline-containing arms, the innovative statements offered by BCIRG 006 trial appear evident, and these findings opened an important question about the consolidated employment of anthracyclines in adjuvant setting. The FinHer trial was a small trial testing a short course of trastuzumab (9 weeks) concomitantly with a chemotherapy including docetaxel, and there was a significant advantage in DFS for the trastuzumab based arms, without relevant toxicity and without any cardiotoxicity.

ACT

arms


Input: Furthermore, chemerin serum level positively correlated with blood pressure, body mass index, and serum insulin and was negatively correlated with serum eNOS.

chemerin

blood pressure


Input: Abnormal thymocyte development and peripheral T-cell activation in ADA-deficient and PNP-deficient patients cause increased susceptibility to infections and immune dysregulation.

ADA

immune dysregulation


Input: Interestingly, Merit40 mutation exacerbated ICL-induced chromosome instability in the context of concomitant Brca2 deficiency but not in conjunction with Fancd2 mutation.

chromosome instability


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

intestinal metaplasia


Input: Methylation-specific polymerase chain reaction and sodium bisulfite sequencing of these genes show that DCC, but not MBD1, CXXC1, SMAD4 and MBD2, has promoter CpG island methylation in CRC cell lines and tissues {normal mucosa [29. 5% (18/61)], adenomas [81. 0% (47/58)] and carcinomas [82. 7% (62/75)] (P = 8. 6 x 10 (-9))} that is associated with reduced DCC expression, independent of 18q21 loss analyzed by multiplex ligation-dependent probe amplification.

carcinomas


Input: Little is known about the contribution of genetics and lipoprotein subclasses to the development of coronary artery calcification (CAC) in asymptomatic, first-degree relatives of patients with CAD.

CAC

coronary artery calcification


Input: Whereas the inhibition of vascular endothelial growth factor (VEGF) has shown promising results in sporadic colon cancer, the role of VEGF signaling in colitis-associated cancer (CAC) has not been addressed.

CAC

colon cancer


Input: Therefore, the SET complex facilitates HIV-1 infection by preventing suicidal autointegration.

SET

suicidal


Input: Collectively, our results suggest a model where combined genetic and environmental inhibition of PI3K/mTOR signaling leads to variability within FASD.

FASD

FASD


Input: In our previous linkage study on 148 Chinese hypertensive families, the regions at or near the LPL gene were found to be associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP).

DBP

systolic blood pressure


Input: Since myoepithelial markers are frequently expressed in breast carcinomas with a basal-like phenotype, which are frequently occurring tumors in women with BRCA1 germline mutations, we evaluated whether CAV1 was associated with a basal-like phenotype in 509 sporadic and 47 hereditary BRCA1-/BRCA2-associated carcinomas.

sporadic


Input: Our findings establish NSUN2 as the first causal gene with relationship to the DS spectrum phenotype.

DS

DS


Input: Neither IL-1B-511, IL-1B + 3954 nor IL-1RN genotypes, allele or carrier frequencies showed significant association with tubal pathology or C. trachomatis post-infection-based tubal pathology.

trachomatis


Input: The presence of a SP1/SP3-binding element in the PR1 position is absolutely required for mild hypoxia-induced activity, and it significantly up-regulates the true hypoxic induction.

mild


Input: It was also found that IAP gene expression levels are increased concomitantly with translocation to the nucleus of the TNF-responsive transcription factor NF-kappaB.

TNF

translocation


Input: The cellular function of the menin tumor suppressor protein, product of the MEN1 gene mutated in familial multiple endocrine neoplasia type 1, has not been defined.

multiple endocrine neoplasia type 1

multiple endocrine neoplasia type 1


Input: These results show that ERalpha and ERbeta are differentially expressed in SMC and MEC of human myometrium and fibroids.

SMC

fibroids


Input: In TNF-alpha-stimulated corneal epithelial cells, NFkappaB p65 subunit translocation to the nucleus was observed using immunofluorescence microscopy.

TNF-alpha

translocation


Input: Intraperitoneal administration of GO-CoA-Tat improves glucose tolerance and reduces weight gain in wild-type mice but not in ghrelin-deficient mice, supporting the concept that its beneficial metabolic effects are due specifically to GOAT inhibition.

GOAT

weight gain


Input: This patient suffered from acute pancreatitis, showed chylomicronemia and lacked detectable LPL activity or mass in her postheparin plasma.

LPL

acute pancreatitis


Input: The clinical symptomatology in the X-linked Wiskott-Aldrich syndrome (WAS), a combined immunodeficiency and autoimmune disease resulting from WAS protein (WASp) deficiency, reflects the underlying coexistence of an impaired T helper 1 (TH1) immunity alongside intact TH2 immunity.

immunodeficiency


Input: A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boy.

POMC

skin pigmentation


Input: Maspin is both overexpressed in tumors and inflammation, implicating a possible role in bridging inflammation and neoplasia.

Maspin

inflammation


Input: This novel characterization of NPM/B23 in estrogen-mediated cell proliferation may extend our understanding of the tumorigenesis of steroid hormone-related cancers.

tumorigenesis


Input: PRRT2 analysis of the 32 additional probands showed mutations in 10, 8 familial and 2 sporadic, probands.

sporadic


Input: Association studies of positional candidate genes have implicated DCDC2 and KIAA0319 in DYX2, as well as C2ORF3 and MRPL19 (DYX3), whereas DYX1C1/EKN1 (DYX1) and ROBO1 (DYX5) were found to be disrupted by rare translocation breakpoints in reading-disabled individuals.

translocation


Input: Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

familial hypercholanemia

familial hypercholanemia


Input: In BRCA2-associated patients, who were mainly HRec-positive, the OR was higher than in sporadic patients (89% vs 38%, respectively; P = 0. 02), whereas the median PFS was not significantly different (7. 1 vs 5. 7 months, respectively).

sporadic


Input: Therefore, disruption of HGF/c-MET signaling is a potential targeted approach to treating metastatic bone disease.

MET

bone disease


Input: RNA for cDNA probe synthesis was isolated from reflected human amnion and choriodecidua membranes delivered following Caesarean section at term before the onset of labour (TNL, n = 4), spontaneous labour at term (TSL, n = 4), and PTL with and without chorioamnionitis (PTL (+ INF) and PTL (-INF) respectively, n = 4 each).

PTL

chorioamnionitis


Input: The effect of the simultaneous administration of indomethacin (a preferential inhibitor of cyclooxygenase-1; COX-1) or celecoxib (a relatively selective inhibitor of cyclooxygenase-2; COX-2), with selective antagonists of bradykinin (2) (B (2)) bradykinin (1) (B (1)) receptors (HOE 140 or des-Arg (10)-HOE 140) on the alleviation of diabetic and toxic neuropathic pain was investigated.

neuropathic pain


Input: Oxidative stress-mediated thrombospondin-2 upregulation impairs bone marrow-derived angiogenic cell function in diabetes mellitus.

diabetes mellitus

diabetes mellitus


Input: Nortriptyline plasma levels and clinical response in patients with familial pure unipolar depression and blunted TRH tests.

TRH

unipolar depression

TRH

unipolar depression


Input: Dysregulation of β-catenin and the transcriptional activator FOXM1 mediate oncogenesis, but it is not clear how these proteins become dysregulated in tumors that do not typically carry mutations in adenomatous polyposis coli (APC) or β-catenin, such as pancreatic ductal adenocarcinomas (PDACs).

adenomatous polyposis coli


Input: The t10, c12-CLA isomer was more effective than c9, t11-CLA in inhibiting cell proliferation of MCF-7 breast cancer cells and enhancing the accumulation of p53 and pRb.

breast cancer


Input: Indeed, inducible expression, under control of a tetracycline-regulated promoter, of D404G-TbetaRII in TGF-beta-sensitive Mac-1 cells as well as in Hep3B hepatoma cells results in resistance to TGF-beta and disappearance of cell surface TbetaRI and TbetaRII.

hepatoma


Input: CRF resulted in hypertension, proteinuria, renal tissue lipid accumulation, up-regulation of scavenger receptor A1 (SR-A1), acyl-CoA cholesterol acyltransferase-1 (ACAT1), carbohydrate-responsive element binding protein (ChREBP), fatty acid synthase (FAS), acyl-CoA carboxylase (ACC), liver X receptor (LXR), ATP binding cassette (ABC) A-1, ABCG-1, and SR-B1 and down-regulation of sterol responsive element binding protein-1 (SREBP-1), SREBP-2, HMG-CoA reductase, PPAR-alpha, fatty acid binding protein (L-FABP), and CPT1A.

L-FABP

CRF

L-FABP

CRF


Input: Consistently, hypoxia induced both AP-1 and NF-kappaB activity.

hypoxia


Input: The aim of this study was to explore whether abnormalities in SERT might be present in healthy individuals with familial predisposition to mood disorder.

SERT

abnormalities


Input: The concentrations of fibrinogen (Fb) and the activities of factor VII (F VIIC) and antithrombin III (AT III) both in men less than 55 years old with a history of myocardial infarction (MI) and with normolipemia (MI-NLP) or hyperlipoproteinemia (MI-HLP) and in their sons have been measured.

NLP

hyperlipoproteinemia


Input: Previous studies indicate that the regions, where the ACHE (7q22) and BCHE (3q26. 1-q26. 2) genes are localized, are suffering such structural modifications in breast cancer.

ACHE

breast cancer

ACHE

breast cancer


Input: Mortality was particularly raised from diabetes (SMR, 5. 8; 95% CI, 3. 4-9. 3), epilepsy (SMR, 7. 2; 95% CI, 3. 1-14. 1), pulmonary embolism (SMR, 5. 7; 95% CI, 2. 5-11. 3), peripheral vascular disease (SMR, 7. 9; 95% CI, 2. 9-17. 2), vascular insufficiency of the intestine (SMR, 12. 3; 95% CI, 4. 0-28. 8), renal disease (SMR, 5. 0; 95% CI, 2. 0-10. 3), and femoral fracture (SMR, 39. 4; 95% CI, 4. 8-142. 3).

SMR

diabetes


Input: Additional studies of ALAD, Pb, and prostate cancer are warranted and should include black men. Prostate 74: 637-646, 2014. & #169; 2014 Wiley Periodicals, Inc.

ALAD

prostate cancer

ALAD

prostate cancer


Input: The neuropathological diagnosis of PDD + AD correlated with an older age of PD onset (p = 0. 001; OR, 1. 12; 95% CI, 1. 04-1. 21), higher CLB/LN burden (p = 0. 037; OR, 2. 48; 95% CI, 1. 06-5. 82), and cerebral amyloid angiopathy severity (p = 0. 032; OR, 4. 16; 95% CI, 1. 13-15. 30).

CLB

cerebral amyloid angiopathy


Input: By immunohistochemistry, 75% of esophageal carcinomas showed evidence of cyclin D1 expression.

cyclin D1

esophageal


Input: Glucose metabolism, insulin sensitivity, and gene expression of key adipocyte genes, including adiponectin, interleukin 6 (Il6), 11 beta-hydroxysteroid dehydrogenase (11beta Hsd), peroxisome proliferator-activated receptor gamma (Ppar gamma), forkhead box O1 (Foxo1), glucose transporter 4 (Glut4), CCAAT/enhancer binding protein (C/ebp alpha), and fatty acid synthase (Fasn) were characterized in adipocytes from epididymal and subcutaneous fat depots of 28-week-old male WOKW rats and Dark Agouti (DA) controls.

insulin sensitivity


Input: In summary, CSPP1 mutations are a major cause of the Joubert-Jeune phenotype in humans; however, the mechanism by which these mutations lead to both JBTS and JATD remains unknown.

JBTS

JBTS


Input: Electron beam computed tomography is an accurate, noninvasive method to detect and quantify coronary artery calcification (CAC), a marker of subclinical and clinical coronary artery atherosclerosis.

CAC

coronary artery calcification


Input: We concluded that autoimmune diabetes with onset during pregnancy is associated with the type 1 diabetes-associated genotypes and also with MICA5. 0/5. 1, whereas DR7-DQ2/y, DR9-DQ9/y, DR14-DQ5/y, and MICA5. 0/z are risk factors for nonautoimmune GDM.

autoimmune diabetes


Input: TGFR-β2-875 G/G genotype is a risk factor for BAVM, and the IL-17A-197 G/A and TGFR-β2-875 A/G genotype is closely related to hemorrhage risk for patients with BAVM.

hemorrhage


Input: Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.

SLE

SLE


Input: We describe our findings with a new set of probes that localize to 22q12 (EWS) and 11q24 (FLI-1) and directly show the translocation as juxtaposed red-green signals on der (22) in nuclei extracted from formalin-fixed, paraffm-embedded tissues.

EWS

translocation


Input: More than 2, 500 sera from patients with connective tissue disease (including myositis and ILD) and controls were examined for anti-AsnRS autoantibodies by immunoprecipitation (IP).

AsnRS

myositis


Input: The levels of gp130 activators (IL-6, IL-11, LIF) were analyzed by ELISA in plasma and mucosa of patients with gastric adenocarcinoma.

LIF

gastric adenocarcinoma


Input: Syndromic variants of congenital neutropenia may be due to mutations in genes controlling glucose metabolism (SLC37A4, G6PC3) or lysosomal function (LYST, RAB27A, ROBLD3/p14, AP3B1, VPS13B).

congenital neutropenia


Input: We sequenced the complete MC4R coding region, the region of the proopiomelanocortin gene (POMC) encoding the alpha melanocyte-stimulating hormone, and the leptin-binding domain of LEPR in 469 severely obese white subjects (370 women and 99 men; mean [+/-SE] age, 41. 0 +/-0. 5 years; body-mass index [the weight in kilograms divided by the square of the height in meters], 44. 1 +/-2. 0).

LEPR

height


Input: We identified the R148S variant in ACTG2 as a cause of FVM in one family.

FVM

FVM


Input: beta-Mannosidosis is a lysosomal storage disorder caused by deficiency of beta-mannosidase.

beta-mannosidase

beta-Mannosidosis

beta-mannosidase

beta-Mannosidosis


Input: We previously have shown the aberrant overexpression of stratifin (SFN, 14-3-3 ς) in lung adenocarcinoma.

lung adenocarcinoma


Input: The treatment of PCa cells with CDF, a novel Curcumin-derived synthetic analogue previously showed anti-tumor activity in vivo, inhibited the productions of VEGF and IL-6, and down-regulated the expression of Nanog, Oct4, EZH2 mRNAs, as well as miR-21 under hypoxic condition.

hypoxic


Input: To address this question, this study was carried out in order to determine the frequencies of the SDF1 polymorphism and the SDF1-3' A allele on 1061 genomic DNA samples purified from peripheral blood cells of 136 healthy individuals (group 1), 147 HIV-1-exposed seronegative individuals (group 2), 161 HIV-1-infected asymptomatic individuals and with CD4 (+) T-cells count 350 mm (-3) (group 3), and 617 HIV-1-infected individuals with AIDS and/or CD4 (+) T-cells count < 350 mm (-3) (group 4).

asymptomatic


Input: A gene coding a similar protein (CLPMT1) has been implicated in CLP etiology both through linkage studies and by a translocation disrupting the gene, indicating the possible involvement of CLPTM1L with CL/P.

translocation


Input: We provide data, which document that unlike nevi and melanoma in situ, primary and metastatic melanomas express high levels of CDK2, CDK1, and CDK5.

nevi


Input: We report that under normoxic conditions, ET (B) R activation by ET-1/ET-3 enhances vascular endothelial growth factor (VEGF) up-regulation, cyclooxygenase (COX)-1/COX-2 protein expression and COX-2 promoter activity, prostaglandin E (2) (PGE (2)) production, and do so to a greater extent under hypoxia.

COX

hypoxia


Input: Mortality was associated with undetectable levels of alpha/beta interferon (IFN-α/β) in serum, ∼ 50-and ∼ 10-fold increases in levels of IFN-γ and tumor necrosis factor (TNF), respectively, increased virus replication, edema, vasculitis, hemorrhage, fever followed by hypothermia, oliguria, thrombocytopenia, and raised hematocrits.

IFN

edema


Input: This points to a molecular aetiology of primary cutaneous ALC lymphomas and LyP distinct from that of extracutaneous CD30 + lymphoproliferative disease.

ALC

lymphoproliferative disease


Input: Parameters were correlated with markers of systemic inflammation (C-reactive protein [CRP]) and insulin resistance (homeostatis model assessment of insulin resistance [HOMA-IR]).

CRP

insulin resistance


Input: A multifactorial likelihood model for classification of unclassified variants in BRCA1 and BRCA2 has previously been developed, which uses data on co-occurrence of the unclassified variant with pathogenic mutations in the same gene, cosegregation of the unclassified variant with affected status, and Grantham analysis of the fit between the missense substitution and the evolutionary range of variation observed at its position in the protein.

fit


Input: CAR and PXR are involved in the development of certain diseases, including diabetes, metabolic syndrome and obesity.

PXR

metabolic syndrome

PXR

metabolic syndrome


Input: Together, these data suggest that loss of CDKN2B promotes atherosclerosis by increasing the size and complexity of the lipid-laden necrotic core through impaired efferocytosis.

necrotic


Input: One hundred and fourteen cases of epithelial neoplasms, including seborrheic keratosis (SEB), basal cell carcinomas (BCCs), solar keratosis (SK), Bowen' s disease (BD), and squamous cell carcinomas (SCCs) were examined using argyrophilic nucleolar organizer region (AgNOR) staining.

SEB

epithelial neoplasms


Input: Dent disease is an X-linked recessive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure (MIM 300009).

MIM

nephrocalcinosis


Input: Cold-inducible RNA-binding protein (CIRP) is a newly discovered proinflammatory mediator that can be released into the circulation during hemorrhage or septic shock.

CIRP

hemorrhage


Input: Thus, GPIbalpha contributes to arterial thrombosis by important adhesion mechanisms independent of the binding to VWF.

GPIbalpha

arterial thrombosis


Input: Prognostic significance of pre B cell leukemia transcription factor 2 (PBX2) expression in non-small cell lung carcinoma.

transcription factor 2

non-small cell lung carcinoma


Input: It is hereby concluded that 3p25 aneusomy or PAX8-PPARG translocation may play an important role in the molecular pathogenesis of follicular thyroid tumors.

PPARG

translocation


Input: This study investigated whether cinacalcet and NPS-2143 may rectify Ca (2 +) i alterations associated with FHH2-and ADH2-causing Gα11 mutations, and evaluated the influence of germline gain-of-function Gα11 mutations on MAPK signaling by measuring ERK phosphorylation, and assessed the effect of NPS-2143 on a uveal melanoma Gα11 mutant.

ERK

uveal melanoma


Input: The convulsions induced by isoniazid (INH) were very resistant to both caerulein and diazepam; CCK-8 was not tested against isoniazid.

CCK

convulsions

CCK

convulsions


Input: To determine whether this loss influences the neoplastic behavior of cervical carcinoma cells, we have constructed HeLa cell lines in which Cx43 expression can be induced in response to doxycycline.

cervical carcinoma


Input: Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.

PTEN

Proteus-like syndrome

PTEN

Proteus-like syndrome


Input: In conclusion, our data suggest that the ACE allelic variant is not a susceptibility factor in sporadic and familial AD (FAD), nor does it mitigate the effect of the APOE epsilon4 allele in the risk of developing AD.

FAD

sporadic


Input: Pituitary weight and serum insulin-like growth factor (IGF)-1 level were also reduced in the mutant.

IGF

weight


Input: cIAP1 was positive in all precursor B-cell lymphoblastic lymphoma/leukemia (LBL) and nodal marginal zone B-cell lymphoma (MZL), over 90% of follicular lymphoma and diffuse large B-cell lymphoma (DLBCL), and approximately 50% to 60% of myeloma, Burkitt lymphoma (BL), lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (LPL/WM), small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL), extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue (MALT-lymphoma), splenic MZL, and mantle cell lymphoma.

LPL

follicular lymphoma


Input: Sarcomere protein myosin binding protein C is functionally related to cardiac diastolic function and hypertrophy.

protein C

hypertrophy


Input: TPH2 variants have been consistently associated with anxiety-related traits; since anxiety is critical for alcohol dependence treatment, in the present paper we investigated 9 SNPs within the THP2 gene in anxiety symptoms during the detoxification procedure.

alcohol dependence

alcohol dependence


Input: The aim of this study was to confirm the association between LITAF and obesity and insulin resistance.

LITAF

insulin resistance


Input: MATERIALS AND METHODS: Genotyping of p. P47S, p. R72P, PIN3 ins16bp, p. R213R and r. 13494g > a polymorphisms of TP53 in 136 sporadic EC patients and 136 controls using polymerase chain reaction and PCR-RFLP.

sporadic


Input: Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection.

CD70 deficiency

CD70 deficiency


Input: Therefore, this disease belongs to the new WHO category of myeloid and lymphoid neoplasms with abnormalities in PDGFRA, PDGFRB and FGFR1 genes.

PDGFRA

abnormalities


Input: Cysteine-rich 61 (Cyr61) is a member of the CCN protein family that has been implicated in diverse biological processes such as cell adhesion, proliferation, angiogenesis, and tumorigenesis.

tumorigenesis


Input: In classification and regression tree analysis, combinations of GSTM1 present, CYP1A12C AA or GG, EPHX1 exon3 TC, and EPHX1 exon4 AA or GG genotype strongly enhanced the risk of AML (OR = 5. 89; 95% CI = 1. 40-26. 62; P = 0. 01).

regression


Input: AIM: Women who developed vestibulodynia (vulvar vestibulitis) while taking combined hormonal contraceptives (CHCs) and a control group of women were tested for polymorphisms of the gene coding for the androgen receptor (AR) that is located on the X chromosome.

AIM

vulvar vestibulitis


Input: Twenty CP natives, examined in CP, were rated using a chronic mountain sickness (CMS) score to separate controls (10) from those with CMS (10), a maladaptation syndrome in natives to altitude which includes severe, recurring headache.

CMS

headache


Input: In this study we investigate the association of A313G and C341T GSTP1 polymorphisms, GSTM1 and GSTT1 null genotypes in the head and neck cancer development, interactions between these polymorphisms, the tumor histopathologic parameters and risk factors (smoking and drinking) were also evaluated in the case-control study.

drinking


Input: In this study, we identified by whole-exome sequencing the somatic mutation p. S54L in the PRKACB gene, encoding the catalytic subunit & #946; (C & #946;) of PKA, in a CPA from a patient with severe Cushing syndrome.

PRKACB

Cushing syndrome

PRKACB

Cushing syndrome


Input: Moreover, Flavopiridol (CDK9 inhibitor) could inhibit THP-1 cell (monocytic acute leukemia cell line) proliferation by targeting CDK9.

acute leukemia


Input: In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC.

PGR

body mass index


Input: The larger obese/lean rats ratio of LPL and ACS parameters in abdominal subcutaneous fat than mesenteric fat may be related to the observation that the increase of subcutaneous fat weight was larger than that of mesenteric fat weight in fatty rats (21. 1-vs 4. 9-fold).

LPL

weight


Input: We compared radiosensitivity in a " single-hit " cell line with TP53 mutation converted to " double-hit " using RNA interference targeting FHIT.

FHIT

hit


Input: Clinical features typically associated with Sotos syndrome were not found to be significantly different between individuals with and without NSD1 abnormalities.

abnormalities


Input: In the present study, we revealed that the extent of endogenous HGF up-regulation was less than that of c-Met, an HGF receptor, during the acute phase of SCI and administered exogenous HGF into injured spinal cord using a replication-incompetent herpes simplex virous-1 (HSV-1) vector to determine whether HGF exerts beneficial effects and promotes functional recovery after SCI.

HGF

herpes simplex


Input: The results show that H (2) promoted 2-[(14) C]-deoxy-d-glucose (2-DG) uptake into C2C12 cells via the translocation of glucose transporter Glut4 through activation of phosphatidylinositol-3-OH kinase (PI3K), protein kinase C (PKC), and AMP-activated protein kinase (AMPK), although it did not stimulate the translocation of Glut2 in Hep G2 cells.

translocation


Input: To investigate whether cells of mesenchymal origin acquire embryonic phenotypes, we generated human cells of mesodermal origin with overexpression of the chimeric OCT4/3 gene with physiological co-activator EWS (product of the EWSR1 gene), which is driven by the potent EWS promoter by translocation.

EWS

translocation


Input: Chronic beryllium disease (CBD) is a hypersensitivity granulomatosis characterized by beryllium hypersensitivity (BH) and mediated by CD4 + T cells.

hypersensitivity


Input: ST3/MMP11 protein expression was observed in 45/79 (57%) precancerous lesions [28/48 (58%) with hyperplasia and 17/31 (55%) with dysplasia] and in 123/177 (70%) oral SCCs.

hyperplasia


Input: There was no statistically significant evidence of multiplicative interactions between any pair of genotypes based on CYP2E1 RsaI, CYP2E1 DraI, GSTP1, GSTM1, or GSTT1; nor between Helicobacter pylori status and any of these five loci; nor between smoking status and GSTP1, GSTM1, or GSTT1; nor between alcohol consumption and ALDH2.

alcohol consumption


Input: Consistent with this, Sup5T4 compared with Sup cells show increased invasion in vitro concordant with increased LFA-1 and VLA-4 integrin expression, adhesion to extracellular matrix and secretion of matrix metalloproteases (MMP-2/-9).

adhesion


Input: Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women.

abnormalities


Input: The patient and the patient' s asymptomatic family members underwent genetic screening of the three genes most frequently associated with LQTS: KCNQ1, KCNH2, and SCN5A.

asymptomatic


Input: These findings showed that the advantage in tumor growth depended upon the MTATP6 function but was not due to secondary nuclear mutations caused by the mutant mitochondria.

secondary


Input: In conclusion, our data suggest involvement of GAL3 receptors in GAL-mediated effects on mood, anxiety, and behavior, making it a possible target for alternative treatment strategies for mood disorders.

GAL

mood disorders

GAL

mood disorders


Input: This review will summarize the studies on the MC4R, from its cloning and tissue distribution to its physiological roles in regulating energy homeostasis, cachexia, cardiovascular function, glucose and lipid homeostasis, reproduction and sexual function, drug abuse, pain perception, brain inflammation, and anxiety.

brain inflammation


Input: We first carried out a preliminary array screen of pooled RNA, and then used RT-PCR to quantify five mRNAs which the array identified as differentially expressed in schizophrenia (myelin basic protein [MBP], myelin-oligodendrocyte glycoprotein [MOG], & #946;-actin [ACTB], thymosin & #946;-10 [TB10], and superior cervical ganglion-10 [SCG10]).

schizophrenia

schizophrenia


Input: Therefore, combining IDO inhibition with standard TMZ treatment could be an encouraging therapeutic strategy for patients with malignant glioma.

IDO

malignant glioma


Input: In the 2 remaining individuals with sporadic PKD, PRRT2 mutations were not detected.

sporadic


Input: Our results reveal that cluster 1 tumors display a marked increase in both vascularization and in the expression of major angiogenic molecules, including VEGF, its receptors, HIF2α, Angiopoietin-2, and the endothelin receptors ETA and ETB.

ETB

vascularization


Input: CD36-/-mice express reduced levels of COX2 and VEGF in vivo, and COX2-/-mice develop progressive choroidal degeneration similar to what is seen in CD36 deficiency.

choroidal degeneration


Input: The up-regulation of CD44 and LFA-1 at different times in the development of AIA suggests an important role for these adhesion molecules in establishing and sustaining an inflammatory response in the AIA joint.

adhesion


Input: A statistically significant effect was seen for SULT1A2 genotype on a 24DNT Hb-adduct; GSTP1 genotype on a 2, 4, 6-trinitrotoluene Hb-adduct; and SULT1A1, SULT1A2, NAT1, GSTT1, and GSTP1 genotypes on chromosomal aberrations in the exposed workers.

chromosomal aberrations

chromosomal aberrations


Input: Patients with cystic fibrosis and unexplained upper abdominal pain should be screened for pancreatitis, and consideration should be given to screening patients with idiopathic pancreatitis for mutations in the CFTR gene.

CFTR gene

upper abdominal pain


Input: Two potentially disease-causing variants were detected in the infertile cohort: one man with azoospermia was found to be heterozygous for the novel TSPYL1 variant c. 419C > G (p. Ser140Cys), and the rare substitution c. 1098C > A (p. Phe366Leu) was identified in a man with OAT syndrome in the heterozygous state.

infertile


Input: These results suggest that gene therapy with human tissue kallikrein may have potential as a treatment for hypertension and associated insulin resistance.

tissue kallikrein

hypertension

tissue kallikrein

hypertension


Input: We now document the ability of tetrapeptide-based inhibitors of interleukin 1beta-converting enzyme (ICE)-like caspase 1 and cysteine protease protein (CPP)-32-like caspase 3, two members of a novel class of cysteine proteases involved in final pathways to apoptosis, to block TTP/sporadic HUS plasma-mediated apoptosis.

caspase 1

sporadic


Input: To gain insights into the molecular mechanisms underlying the leukemogenesis of NUP98-HOX fusion products, we cloned NUP98-PMX1 from a CML-blast crisis patient with t (1; 11) as a secondary chromosomal translocation, and functionally studied the fusion products in detail through various molecular and protein biochemical assays.

blast crisis


Input: Expression of elastin, decorin, lumican and the extracellular matrix remodeling factor TIMP3 were reduced in facioscapulohumeral muscular dystrophy myoblasts.

lumican

facioscapulohumeral muscular dystrophy

lumican

facioscapulohumeral muscular dystrophy


Input: A correlation between CD13/CD33 positivity and the t (12; 21) translocation was uniformly observed in B-ALL patients for a positive threshold of 30%, whereas SJ1D1/D3HL60 detected no correlation between t (12; 21) and CD13/CD33 positivity when the threshold was lowered to 20%.

translocation


Input: Notably, we found a possible modifying effect of patient' s body mass index (BMI) on tumor TP53.

body mass index


Input: Chromosome analysis of the bone marrow showed 49, XX, der (1; 7) (q10; p10), + 8, + 19, + 21 in therapy-related myelodysplastic syndrome with additional chromosomes 8, and 12 and two additional chromosomes 21 in acute leukemia.

acute leukemia


Input: In 2008, the WHO introduced a new entity called " Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1 ", which are characterized by the formation of a fusion gene encoding an aberrant tyrosine kinase.

PDGFRA

abnormalities


Input: The Kir5. 1 (-/-) mice displayed hypokalemic, hyperchloremic metabolic acidosis with hypercalciuria.

Kir5. 1

hyperchloremic metabolic acidosis


Input: The translocation t (8; 16) (p11; p13) is associated with a subtype of acute monocytic leukemia (AML M5) characterized morphologically by erythrophagocytosis and clinically by a poor prognosis.

acute monocytic leukemia


Input: Overexpression of GPx3 in prostate cancer cell lines induced the suppression of colony formation and anchorage-independent growth of PC3, LNCaP, and Du145 cells.

prostate cancer

prostate cancer


Input: CCL2 gene silencing in PyVmT carcinoma cells or BT474 luminal B breast cancer cells decreased cell growth and viability associated with increased necrosis and autophagy.

CCL2 gene

necrosis


Input: The familial cancers were immunonegative for membranous Na +/H + exchanger regulatory factor 1 expression compared with sporadic cancers (P =. 001); notably, vascular endothelial growth factor receptor 1 staining correlated with cytoplasmic Na +/H + exchanger regulatory factor 1 expression in familial tumors (P =. 009).

vascular endothelial growth factor receptor 1

sporadic


Input: Expression of GLUT-1 and transglutaminase 2 is increased in aggressive breast cancer, whereas claudin-1, which is expressed in normal tissues, is absent in such tumors.

breast cancer

breast cancer


Input: Haplotype 5 was associated with higher SHBG and lower free T. Variation in the HMGCR gene may influence component features of PCOS, including insulin resistance, SHBG, and free T. HMGCR may thus act as a modifier gene in PCOS.

SHBG

insulin resistance


Input: autoimmune hepatitis, type 2 diabetes, a family history of HCC, hypothyroidism, and non-alcoholic steatohepatitis also show an increased risk of HCC compared to the general population.

HCC

type 2 diabetes


Input: Genotype 1 (G1) chronic hepatitis C (CHC) patients achieving a rapid virological response (RVR) on pegylated interferon (PEG-IFN) plus ribavirin have a high chance of sustained virological response (SVR), influenced by IL28B status, viral load, fibrosis and insulin resistance.

IFN

insulin resistance


Input: Long non-coding RNA LOC100507600 functions as a competitive endogenous RNA to regulate BMI1 expression by sponging miR128-1-3p in Hirschsprung' s disease.

Hirschsprung' s disease

Hirschsprung' s disease


Input: Early changes in insulin receptor signaling and pain sensation in streptozotocin-induced diabetic neuropathy in rats.

insulin receptor

diabetic neuropathy

insulin receptor

diabetic neuropathy


Input: Overexpression of HOXB8 can promote gastric cancer cells migration and invasion, while silencing HOXB8 leads to the opposite results.

gastric cancer


Input: These results suggested that deregulation of p16-cyclin D1/Cdk4-Rb pathway, but not oncogenic activation of ras, plays a crucial role in bladder tumorigenesis induced by bladder calculi.

bladder calculi


Input: Here we have used an antibody specific to human persyn to demonstrate that the level of this protein is increased in ageing cerebral cortex and in breast tumours.

persyn

ageing


Input: The apolipoprotein E gene promoter (-219G/T) polymorphism determines insulin sensitivity in response to dietary fat in healthy young adults.

apolipoprotein E gene

insulin sensitivity


Input: In this work, we have explored the molecular pathology of the lethal form of EB-PA, and we describe novel ITGB4 mutations in five alleles of three patients.

EB-PA

EB-PA


Input: These data suggest that heterozygous mutation of RAI1 and Rai1 leads to a disrupted circadian rhythm and thus results in an abnormal sleep-wake cycle, which can contribute to an abnormal feeding pattern and dependent cognitive performance.

circadian rhythm


Input: We studied by immunohistochemistry the phosphorylation status of proteins of the RAS/MEK/ERK and PI3K/AKT/mTOR pathways in 53 MTC tissues (18 hereditary, 35 sporadic), including 51 primary MTCs and 2 cases with only lymph node metastases (LNM).

ERK

sporadic


Input: We observed a higher risk associated with alcohol consumption and smoking among homozygous GPX1 (198) Leu carriers, with incidence rate ratios for colorectal cancer of 1. 45 (95% CI: 1. 17-1. 81, P = 0. 02) per 10g alcohol intake per day and 2. 56 (95% CI: 0. 99-6. 61, P = 0. 02) among ever smokers compared with never smokers at enrolment.

smoking


Input: Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal-muscular atrophy 1 (DSMA10), is an autosomal recessive type of spinal muscular atrophy that is related to mutations in the IGHMBP2 gene, which encodes for the immunoglobulin μ-binding protein.

IGHMBP2 gene

muscular atrophy


Input: Insulin-like growth factor-II mRNA-binding protein 3 (IMP3) plays a vital role in carcinogenesis; however, its significance and prognostic value in colon cancer remain unclear.

colon cancer


Input: OFQ/N pretreatment resulted in translocation of PKC-alpha, G protein-coupled receptor kinase 2 (GRK2) and GRK3 from the cytosol to the membrane, and this translocation was also blocked by chelerythrine.

translocation


Input: To determine esophageal expression and the genetic variation of the Myo9B gene in the RE-BE-EAC cascade.

Myo9B gene

esophageal


Input: Tim-3 stimulates mast cells to produce Th2 cytokines, and anti-Tim-3 is able to dampen asthmatic inflammation.

inflammation


Input: In this report we show a strong synergistic interaction between granulocyte colony-stimulating factor (G-CSF) and all-trans retinoic acid (ATRA) on the expression of leukocyte alkaline phosphatase (LAP) in freshly isolated acute promyelocytic leukemia (APL) blasts as well as in NB40 and HL-60 cell lines.

LAP

acute promyelocytic leukemia


Input: Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.

hydroxymethylbilane synthase

acute intermittent porphyria

hydroxymethylbilane synthase

acute intermittent porphyria


Input: Examination of sputum provides a direct method to investigate airway inflammation non-invasively in particular Th1 (IL-2, IFN-gamma) and Th2 (IL-4, IL-10) cytokine production.

inflammation


Input: Urinary determination of TMA/TMAO ratio in 158KK/308EG individuals showed a considerable reduction in FMO3 activity although they do not show the classical features of trimethylaminuria as a strong body odor and breath.

body odor


Input: Hyperekplexia is a neurological disorder associated primarily with mutations in the α1 subunit of glycine receptors (GlyRs) that lead to dysfunction of glycinergic inhibitory transmission.

GlyRs

neurological disorder


Input: Single-nucleotide polymorphism 1 (rs3813946), located in the 5' untranslated region of the CR2 gene, altered transcriptional activity, suggesting a potential mechanism by which CR2 could contribute to the development of lupus.

lupus

lupus


Input: LPS-dependent IL-12 overproduction by neutrophils is responsible for the switch in T helper Th1/Th2 balance to Th1 and in this way may participate in inflammation and autoimmune DM1 progression.

inflammation


Input: We conclude that central and peripheral ghrelin exerts a potent protective action on the stomach of rats exposed to ethanol or WRS, and these effects depend upon vagal activity and hyperemia mediated by the NOS-NO system and CGRP released from sensory afferent nerves.

CGRP

hyperemia


Input: The objective of this study was to compare cerebrospinal fluid (CSF) levels of the light subtype of the neurofilament proteins (NFL), tau, and beta-amyloid42 (Abeta42) in individuals with moderate or severe white matter changes (WMC) and in those with mild or no WMC.

NFL

mild


Input: It is concluded that the HSAN4 and HSAN5 phenotypes are parts of a phenotypic spectrum caused by changes in the NGF/TRKA signalling pathway.

NGF

NGF


Input: Mutations affecting BRAF, EGFR, PIK3CA, and KRAS are not associated with sporadic vestibular schwannomas.

EGFR

sporadic


Input: A panel of NB cell lines (CHP-382, GOTO, SHEP-1, SHSY-5Y, and GI-CA-N) were infected with either a bcl-xS adenovirus (pAdRSV-bcl-xS) or a control virus (pAdRSV-lac-z).

CHP

adenovirus


Input: Transfusion of a 6% solution of a 500-kDa polymer possessing a P50 of 17 Torr and a cooperativity of n = 2. 0 resulted in a 66% reduction of infarct volume.

infarct


Input: This study shows a role of cPLA (2) & #945; in luminal breast cancer progression, in which the enzyme could represent a novel therapeutic target and a predictive marker.

cPLA (2

breast cancer

cPLA (2

breast cancer


Input: Sera were analysed for testosterone and SHBG, and insulin resistance was estimated using a homeostatic model (HOMA2-IR).

SHBG

insulin resistance


Input: Most XX male subjects present an anomalous translocation of the sex-determining region of the chromosome Y (SRY) gene from chromosome Y to chromosome X.

SRY

translocation


Input: In vascular endothelial cells the histone methyltransferase Set7 can write the mono-methylation mark H3K4m1 and this methyl-writing enzyme is recruited as a gene co-activator in response to glucose.

mono


Input: Recent results suggest that mutations in MMR genes lead to tumorigenesis in mice, but DNA replication errors appear to be insufficient to initiate intestinal tumorigenesis in this model system.

MMR

tumorigenesis


Input: Functional crosstalk of PGC-1 coactivators and inflammation in skeletal muscle pathophysiology.

PGC

inflammation


Input: Enamel-renal-gingival syndrome and FAM20A mutations.

Enamel-renal-gingival syndrome

Enamel-renal-gingival syndrome


Input: SPARC treatment resulted in decreased mRNA levels of PCNA (proliferating cell nuclear antigen), MCM2 (minichromosome maintenance protein 2), ClnD1 and Bcl-2, but an increased mRNA level of p21 (Waf1) in cyst-lining epithelial cells.

cyst


Input: Supernatants were reserved for cytokine quantification, and endothelial adhesion molecules (EAM) were analyzed by flow cytometry; gene expressions of ICAM1 and genes of the NF-κB pathway were analyzed by qPCR.

NF-κB

adhesion


Input: The molecular diagnosis was based on the finding of a homozygous missense D652N mutation at a position in SLC26A3 (the known congenital chloride diarrhea locus) that is virtually completely conserved in orthologues and paralogues from invertebrates to humans, and clinical follow-up confirmed the diagnosis.

congenital chloride diarrhea

congenital chloride diarrhea


Input: IDH1 and IDH2 mutations in tumorigenesis: mechanistic insights and clinical perspectives.

tumorigenesis


Input: We did not find a clear association between GLIALCAM mutations and AEP-macrocephaly comorbidity.

AEP

macrocephaly


Input: Taken together, our data indicate that Paneth cell hyperplasia and expression of their various antimicrobial products contribute to the immune response driven by TH2 cytokines, such as IL-9 and IL-13 in the intestinal mucosa.

hyperplasia

hyperplasia


Input: A poorer response to purine nucleoside analogues (PNAs) is observed in patients with more marked leukocytosis, bulky splenomegaly, an unmutated immunoglobulin variable heavy chain (IgVH) gene profile, use of VH4-34 or with TP53 mutations.

heavy chain

splenomegaly


Input: In conclusion, the length shortening of telomere was an important characteristic in the carcinogenesis of esophageal epithelial cells, followed by increase of telomerase activity and downregulation of PinX1.

esophageal


Input: Interleukin-18 delays neutrophil apoptosis following alcohol intoxication and burn injury.

alcohol intoxication

alcohol intoxication


Input: Only 1 ER-positive invasive carcinoma showed focal reactivity for Id4.

invasive carcinoma


Input: Only some ten years ago, the classical or short pentraxin C-reactive protein and the newly discovered long pentraxin PTX3 were considered to exert most of the detrimental effects of acute inflammation, whether microbial or sterile in origin.

C-reactive protein

sterile


Input: To examine the association between genomewide association study-based diabetes mellitus-related single-nucleotide polymorphisms (SNPs) and coronary artery calcification (CAC), a valid risk factor for coronary heart disease, in a large, unselected, population-based cohort.

CAC

coronary artery calcification


Input: Mismatch repair gene MSH3 polymorphism is associated with the risk of sporadic prostate cancer.

sporadic


Input: Our results indicate that hsa-miR-222 plays an important role in OTSCC invasion, and may serve as a novel therapeutic target for OTSCC patients at risk of metastatic disease.

metastatic disease

metastatic disease


Input: These findings strongly suggested that CHK may play a role in tumorigenesis and in the terminal differentiation of neurons within the CNS.

CHK

tumorigenesis


Input: To determine the association of the Apolipoprotein E (APOE) E4 gene polymorphism with bone mineral density (BMD) and fractures we conducted a meta-analysis of 17 reports.

APOE

bone mineral density


Input: Normal and non-neoplastic brain tissues were negative for MK, PCNA, and p53 protein.

PCNA

non-neoplastic


Input: Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans.

DBP

systolic blood pressure


Input: Conditional analyses within loci showed that four loci, including GBA, GAK-DGKQ, SNCA and the HLA region, contain a secondary independent risk variant.

GBA

secondary


Input: Ptp4a3-null mice developed 50% fewer colon tumors than wildtype mice after exposure to azoxymethane and dextran sodium sulfate.

colon tumors

colon tumors


Input: Previously, we proposed the term " early HCC " for HCCs without definite destructive growth, and the nodule-in-nodule lesions described here are considered to be in the transitional stage from early HCC to advanced HCC, and are therefore named early advanced HCC (eAd HCC).

HCC

nodule


Input: Both birthweight and polymorphisms in the VDR gene were associated with the presence of lumbar spine osteophytes and a significant interaction was observed between these 2 factors in men.

VDR gene

birthweight


Input: Collectively, these results suggest that Nm23H1 and H2 have differential abilities to modulate tumorigenesis.

tumorigenesis


Input: We found significant evidence of an association between SPP1 promoter polymorphisms and glioma risk.

glioma


Input: Activation of beta-catenin in mouse hepatoma cells activates GSTm3 promoter-driven reporter activity, independently of beta-catenin/T-cell factor sites, via a retinoid X receptor-binding site.

hepatoma


Input: We identified a novel R299Q mutation in GATA3 in a Japanese family with HDR syndrome.

HDR syndrome

HDR syndrome


Input: Single layers of epithelial cells exhibiting all four CK15/CK19 phenotypes were observed contiguous to areas of atypical ductal hyperplasia that contained p53 positive cells that lost CK15 expression (CK15-/CK19 +) and had a very similar phenotype to those of the neighboring ductal carcinoma in situ (DCIS) and invasive cells.

atypical ductal hyperplasia


Input: Determine body mass index; measure serum androgen, insulin-like growth factor (IGF)-binding protein 1, lipids, IGF-1, and SHBG concentrations; perform glucose tolerance tests; and assay for G972R variant of the IRS-1 gene.

SHBG

body mass index


Input: Two-locus haplotypes including HLA-A25-B13, HLA-A25-B27, HLA-A25-Cw * 0602, HLA-A25-DQA1 * 0302, HLA-A25-DQA1 * 0601, HLA-A25-DQB1 * 0303, HLA-B13-Cw * 0602, HLA-B13-DQA1 * 0302, HLA-B13-DQA1 * 0601, HLA-B27-Cw * 0602, HLA-B27-DQA1 * 0302, HLA-B27-DQA1 * 0601, HLA-B27-DQB1 * 0303, HLA-B27-DQB1 * 0503, HLA-Cw * 0602-DQA1 * 0302, HLA-Cw * 0602-DQA1 * 0601, HLA-Cw * 0602-DQB1 * 0303, HLA-Cw * 0602-DQB1 * 0503 and HLA-DQA1 * 0302-DQB1 * 0503 were associated with all types of vitiligo in Chinese Hans.

vitiligo


Input: The significant independent risk factors for oral and pharyngeal cancer overall among moderate-to-heavy drinkers were inactive ALDH2 * 1/* 2, less-active ADH1B * 1/* 1, frequent drinking of strong alcohol beverages straight, smoking, and lower intake of green-yellow vegetables.

pharyngeal cancer


Input: The recently identified single nucleotide polymorphism in the MDM2 promoter (SNP 309) may contribute to the early onset of both sporadic and hereditary malignancies in patients with defective p53.

sporadic


Input: When the cells were exposed to heat shock in the presence of fisetin, the induction of HSF1 target proteins, such as HSP70, HSP27 and BAG3 (Bcl-2-associated athanogene domain 3), were inhibited.

shock


Input: FA and OCT reported an increased vascular leakage and pre-retinal neovascularization, respectively, in response to 12-HETE that were not observed in the PEDF-treated group.

PEDF

retinal neovascularization


Input: We evaluated cells from a normal-appearing 27-year-old man with infertility and initial karyotype of 45, der (X) t (X; Y) (p22. 3; p11. 2) [8]/46, t (X; Y) (p22. 3; p11. 2) [12].

infertility


Input: Moreover, silencing of the VPS13A gene increased caspase 3 activity and induced necrosis in HUVECs.

caspase 3

necrosis


Input: In conclusion, increased expressions in the hippocampus of three noradrenergic-regulated plasticity genes and one neurotrophic factor may be one of the molecular and cellular mechanisms underlying the antidepressant action of DISS in chronic mild stress (CMS) rats.

neurotrophic factor

mild


Input: Treatment with Epo (10 U for 5 times/week) stimulated hematopoietic recovery in the AZT-treated animals and reduced the severe anemia and thrombocytopenia by 3 weeks.

Epo

thrombocytopenia

Epo

thrombocytopenia


Input: The expression of NK-1R in inflammatory cells and blood vessels also points to an interaction of immunoreactive substance P nerves, inflammatory cells and blood vessels, and further supports the existence of a neuroimmune interaction that probably influences the pain syndrome and chronic inflammatory changes so characteristic of CP.

substance P

pain syndrome


Input: Partial SPRY1 knockdown by RNA interference protected endothelial cells from apoptosis as well as increased endothelial cell proliferation, migration, capillary network formation, and adhesion to extracellular matrix proteins.

adhesion


Input: Our data show that both IL-33 and ST2 were highly up-regulated in EOC tumors compared with normal ovary and ovarian benign tumors, and the expression levels were further increased in tumor tissues at the metastatic site.

benign tumors


Input: IL-10 was strongly associated (p = 0. 004, odd ratio (OR) = 6. 8, confidence interval = 1. 9-25) with lesions, excluding IFN-gamma, IL-12, TNF, IL-13, and IL-4 from the regression model.

regression


Input: Typically, myxofibrosarcoma gain and/or amplification was mapped to 7p21. 3-q31. 1, q31. 1-q31. 33, q33-q36. 2, p21. 3, p21. 2, p14. 1-q11. 23, q31. 33-q33, p21. 2-p14. 1, q11. 23-q21. 3, q36. 2-q36. 3, which, respectively are known to harbour tumour-associated genes, including TIF, BRAF, MLL3, SMO, and MET.

SMO

myxofibrosarcoma


Input: Consequently, both techniques are equally effective in assessing for an EWSR1 rearrangement and are useful ancillary diagnostic tests for clear cell sarcoma.

clear cell sarcoma

clear cell sarcoma


Input: Here, we have employed SKY and high-resolution 244K oligonucleotide array CGH to characterize rearrangements and amplifications in a new WDLS cell line (GOT3) with a giant marker chromosome derived from chromosomes 12, 1, and X.

SKY

giant


Input: Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

homogentisic acid oxidase

alkaptonuria

homogentisic acid oxidase

alkaptonuria


Input: One of these roles is that it provides an effective autoregulatory mechanism which protects the host from excessive inflammation and tissue damage which is in part initiated by the Th1 driven pro-inflammatory immune responses during infections (such as TB, HIV and malaria).

inflammation


Input: Here, we investigated the role of CD4 (+) and CD8 (+) T cells in immunity to Ehrlichia and the pathogenesis of fatal ehrlichiosis caused by infection with low-and high-dose (10 (3) and 10 (5) bacterial genomes/mouse, respectively) ehrlichial inocula.

ehrlichiosis


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

psychosis

psychosis


Input: The functions of glutathione peroxidase 7 (GPX7), an antioxidant enzyme frequently silenced during Barrett' s tumorigenesis, remain largely uncharacterized.

tumorigenesis


Input: Therefore, the present study investigated whether SAC consumption would help prevent tumour growth and progression, including the EMT, in a mouse xenograft model of oral cancer.

SAC

oral cancer


Input: mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction.

breast tumors

breast tumors


Input: RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma.

retinoblastoma

retinoblastoma


Input: t (6; 14) (p22; q32): a new recurrent IGH @translocation involving ID4 in B-cell precursor acute lymphoblastic leukemia (BCP-ALL).

BCP

translocation


Input: To explore this further, we examined polymorphisms in CYP1A1, CYP2E1, GSTM1 and GSTT1, both independently and in combination, for potential associations with the risk of biopsy-proven squamous dysplasia of the esophagus in asymptomatic adults from Linxian, a high risk region in China.

asymptomatic


Input: The gene expression of FOS also increased with longer exposure to hypoxia.

FOS

hypoxia


Input: Moreover, we show that RPGRIP1L interacts biochemically with RPGR, loss of which causes retinal degeneration, and that the Thr229-encoded protein significantly compromises this interaction.

RPGR

retinal degeneration

RPGR

retinal degeneration


Input: Partial recessive STAT1 deficiency is what we believe to be a novel primary immunodeficiency, resulting in impairment of the response to at least 4 cytokines (IFN-alpha/beta, IFN-gamma, IFN-lambda1, and IL-27).

IFN

primary immunodeficiency


Input: Central QRFP administration also evoked highly sustained elevation of blood pressure and heart rate.

QRFP

blood pressure


Input: Increased expression of the CYP26B1 splice variant was observed in human oral cancer tissue compared with adjacent normal tissue, and increased expression was observed in patients at a late tumor stage.

oral cancer


Input: Multiple linear regression analysis was performed with normalized APC-SR (APTT) or APC-SR (ETP) as dependent variable and putative determinants [levels of FII, FV, FVII, FVIII, FIX, FX, FXI, FXII, FXIII A subunit, FXIII B subunit, protein S total, protein S free, protein C, tissue factor pathway inhibitor (TFPI) total, TFPI free, antithrombin and fibrinogen] as independent variables.

FVIII

fibrinogen


Input: Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity.

troponin T

familial dilated cardiomyopathy


Input: The effect of the factor V Leiden mutation, high levels of fibrinogen, and increasing levels of factor VIII was stronger in males than in females.

factor VIII

fibrinogen


Input: Only 35/56 samples had Real-Time-Polymerase-Chain-Reaction/Fluorescent-In-Situ-Hybridization analysis, 32/35 had EWS-translocation.

EWS

translocation


Input: Significant neuroprotective effects were observed, with fewer apoptotic cells found in the spinal cords of SIRT1-overexpressing EAE mice associated with increased brain-derived neurotrophic factor and NAD levels.

EAE

EAE


Input: Our findings 1. establish the search for aberrant proteostasis as a successful strategy to identify neuronal dysfunction in deficient cognitive behavior, 2. reveal a previously unknown functional network of proteins (ARP3, NEB2, BRAG2) involved in age-associated cognitive dysfunction.

cognitive dysfunction


Input: The positive rates of HBsAg and HBVDNA were 62. 5% (15/24) and 75. 0% (12/16) in chronic hepatitis, 64. 0% (16/25) and 83. 3% (15/18) in liver cirrhosis, 72. 7% (16/22) and 85. 7% (12/14) in the paratumorous tissu and 45. 0% (14/31) and 64. 3% (9/14) in HCC.

HCC

chronic hepatitis


Input: Sleep spindle activity (SPA) is associated with neuroplasticity mechanisms during brain maturation and is more abundant in childhood and adolescence than in adulthood, and as such, may be a more sensitive measure of sleep alteration than PSG in early-onset depression.

PSG

depression


Input: Additionally, the rates of mild, moderate and severe ABCG2 dysfunctions in Japanese (35. 4%, 12. 4% and 1. 6%, respectively) were higher than those in Caucasians (14. 0%, 2. 5% and 0%, respectively) and African-Americans (14. 0%, 2. 0% and 0%, respectively).

mild


Input: The possible role of Cdx2 in human colorectal tumorigenesis is discussed.

tumorigenesis


Input: Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

enteropathy


Input: Transient forebrain ischemia leads to delayed death of the CA1 neurons in the hippocampus.

ischemia


Input: The observed inconsistency between the clinical cure and the presence of detectable MLL/ENL transcript suggests the existence of a MLL/ENL-expressing " preleukemia " stem cells, similar to what demonstrated for the AML1/ETO-positive leukemia setting.

ETO

preleukemia


Input: For functional analyses, primary cultures of fibroblasts were obtained from 11 patients carrying either mono-or biallelic variants, including 1 case harboring a large deletion encompassing the entire SACS gene.

SACS gene

mono


Input: Study findings are in accordance with the hepatocellular carcinogenic model where IL28B TT genotype, by promoting a persistent chronic hepatitis which leads to both hepatocyte injury and chronic inflammation, could facilitate HCC development.

HCC

chronic hepatitis


Input: These data indicate that p53 mutations are uncommon in sporadic hepatic angiosarcomas (2/21, 9%), and the mutational profile is consistent with endogenous mechanisms.

sporadic


Input: In cases with nodule in nodule pattern of HCC, the p53-positive rate was different among nodules with the same level of differentiation.

HCC

nodule


Input: The number of CD3 +, CD4 + and CCR4 + cells and the expression of RORC2 mRNA were significantly increased in the tuberculous pleurisy patients compared with the nonspecific pleuritis subjects.

tuberculous pleurisy


Input: Interestingly, silencing of SAF-1 expression in breast cancer cells by SAF-1-specific short hairpin RNAs (shRNAs) significantly reduced H-Ras and K-Ras mRNA level.

SAF

breast cancer


Input: A significant increase in the frequency of the T/T genotype was detected from chronic hepatitis to HCC and LC.

HCC

chronic hepatitis


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

DAP

congenital anomaly


Input: SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

X-Linked Cornelia de Lange syndrome

X-Linked Cornelia de Lange syndrome


Input: Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension.

VHL

pulmonary arterial hypertension

VHL

pulmonary arterial hypertension


Input: The frequency of CFTR mutations was compared with that of patients with secondary obstructive azoospermia (OAZ; one out of 16, 6. 3%) and non-obstructive azoospermia (NOAZ; two out of 22, 9. 1%) with conserved spermatogenesis, which were similar to the general population.

OAZ

non-obstructive azoospermia


Input: Using a combination of denaturing gradient gel electrophoresis (DGGE), temporal temperature gel electrophoresis (TTGE), and sequence analysis, we screened 64 unrelated CS-like subjects for germline mutations in PTEN.

PTEN

CS

PTEN

CS


Input: Pulmonary cyclooxygenase (COX)-2 protects against acid aspiration and bacterial instillation via lipoxins, a family of potent anti-inflammatory lipid mediators.

COX

aspiration


Input: Aberrantly increased mRNA expression of betaglycan, an inhibin co-receptor in the ovarian tissues in women with polycystic ovary syndrome.

betaglycan

polycystic ovary syndrome


Input: Targeting p21 via the selective p53 inhibitor pifithrin-alpha was able to prevent acute renal failure when administered immediately before ischemia.

acute renal failure


Input: Experimental and natural infections in MyD88-and IRAK-4-deficient mice and humans.

IRAK

infections


Input: Here, we report on a child with a de novo 12; 17 translocation, 46, XX, t (12; 17) (q14. 3; q24. 3) chromosome complement, resulting in SRY-negative 46, XX testicular disorder of sex development (46, XX DSD without campomelic dysplasia).

SRY

translocation


Input: Production of AFP is a distinctive feature, which has not been reported in the pulmonary and extrapulmonary cases of small cell carcinoma.

AFP

small cell carcinoma


Input: The coculture model mimics the proliferative index (Ki67 expression) and tumor aggressiveness (HER-2 expression) akin to those observed in clinical tumor samples.

aggressiveness


Input: Expression of PDGF-A, a potent growth factor for fibroblasts, has been detected in desmoplastic small round cell tumors and has been linked to the characteristic desmoplasia in these tumors.

PDGF-A

desmoplastic


Input: Diabetic Sema3a (+) mice develop massive proteinuria, renal insufficiency, and extensive nodular glomerulosclerosis, mimicking advanced DN in humans.

nodular glomerulosclerosis


Input: Modulatory effects of LDL phenotypes on the activation of adhesion molecules, monocyte adherence, and transcriptional activity of nuclear factor-kappaB (NF-kappaB) and activator protein-1 (AP-1) were investigated.

NF-kappaB

adhesion


Input: We have studied the porphobilinogen deaminase gene transcripts from seven unrelated patients from the West of Scotland, all suffering from acute intermittent porphyria.

porphobilinogen deaminase

acute intermittent porphyria

porphobilinogen deaminase

acute intermittent porphyria


Input: Interestingly, relative abundance of mRNA for CTGF compared with BNP was positively correlated with diastolic dysfunction, myocardial fibrosis area, and procollagen type 1 mRNA expression.

CTGF

myocardial fibrosis


Input: The ThrbPV mutation further markedly augmented the risk of mammary hyperplasia in a mouse model with high susceptibility to mammary tumors (Pten (+/-) mouse), as demonstrated by the occurrence of mammary hyperplasia in ∼ 60% of Thrb (PV/+) Pten (+/-) and ∼ 77% of Thrb (PV/PV) Pten (+/-) mice versus ∼ 33% of Thrb (+/+) Pten (+/-) mice.

Thrb

hyperplasia


Input: These data replicate the finding of decreased cx I and cx II expression in the hippocampus in schizophrenia and show a similar or greater abnormality in bipolar disorder.

cx II

schizophrenia

cx II

schizophrenia


Input: Intraperitoneal injection of a replication-deficient adenovirus containing the HST-1 (FGF-4) gene (Adex1HST-1) increased peripheral platelet counts in mice, and also effectively prevented experimentally induced thrombocytopenia.

adenovirus


Input: The DRD2/ANKK1 gene is associated with response to add-on dextromethorphan treatment in bipolar disorder.

bipolar disorder

bipolar disorder


Input: The presence of HLA haplotype DR3-DQ2 or DR4-DQ8 is associated with an increased risk of celiac disease.

celiac disease


Input: Depletion of dHDAC6 significantly enhances the effects caused by ectopic expression of alpha-synuclein, namely, loss of DA neurons, retinal degeneration, and locomotor dysfunction.

alpha-synuclein

retinal degeneration


Input: We evaluated the translocation status in 14 cases of oncocytic mucoepidermoid carcinoma using a MAML2-11q21 break-apart probe spanning the entire chromosome region of the MAML2 gene and correlated these findings with clinicopathologic parameters including age, sex, stage, predominant growth pattern, grade, and p63 immunostaining pattern.

translocation


Input: These results suggest that the inhibition of L-type amino acid transporter 1 activity via JPH203, which may act as a potential novel anti-oral-cancer agent, leads to apoptosis by inducing the intracellular depletion of the neutral amino acids essential for cancer cell growth in YD-38 human oral cancer cells.

L-type amino acid transporter 1

oral cancer


Input: Moreover, there were no significant differences in the allele frequencies of the DNA polymorphism in intron 9 among the 11 FAD, 39 sporadic AD, and 110 control subjects.

FAD

sporadic


Input: Stromal COX-2 expression and the proliferative index were increased only in sporadic adenomas (sporadic adenomas: COX-2 12%; 7-17, Ki67 24%; 15-33, FAP adenomas: COX-2 8%; 5-11, Ki67 5%; 2-9, normal controls: COX-2 4%; 2-7, Ki67 6%; 1-11).

sporadic


Input: There were no clear patterns of increased risk associated with smoking by NAT2 status among premenopausal women.

smoking


Input: Finally, as has been suggested for colitis-associated cancer, the authors of this report concluded that the inhibition of NF-kappaB signaling also may be an additional option for the treatment of sporadic CRC.

NF-kappaB

sporadic


Input: The data furthermore support the hypothesis that the 5-HT (7) receptor might be a suitable target for treating depression.

5-HT (7

depression

5-HT (7

depression


Input: Inhibition of miR-130a reversed liver size enlargement induced by Hippo pathway inactivation and blocked YAP-induced tumorigenesis.

YAP

enlargement


Input: [The relationship of P47phox C923T (Ala308Val) polymorphism to cerebral infarction and its effect on plasma lipid levels].

cerebral infarction


Input: MIF was abundantly expressed in the non-invasive breast cancer cell lines MDA-MB-468 and ZR-75-1, but not in invasive MDA-MB-231 cells, which in turn expressed higher levels of the MIF-receptor CD74.

breast cancer

breast cancer


Input: Betel quid (BQ) chewing is an etiologic factor of oral cancer and submucus fibrosis (OSF).

OSF

fibrosis


Input: Allelic deletion at chromosome 9p21 (p16) and 17p13 (p53) in microdissected sporadic dysplastic nevus.

sporadic


Input: Some mutants with amino acid replacements were capable of normal mitochondrial processing, indicating that the activity of steroidogenic acute regulatory protein is not associated with its translocation into mitochondria.

steroidogenic acute regulatory protein

translocation


Input: We aimed to investigate whether a phenotype related to healthy metabolic aging could be identified in individuals carrying the longevity-associated FOXO3A rs2802292 G-allele.

aging


Input: The homozygous mutation of the IGF1R is associated with severe IUGR, dysmorphic features, and insulin resistance, while both parents were asymptomatic heterozygous carriers of the same mutation.

asymptomatic


Input: We found that the presence/absence of the estrogen receptor (ER) may play a crucial role in driving tumor development through distinct genomic pathways independently of the tumor type (sporadic or familial) and mutation status (BRCA1 or BRCA2).

sporadic


Input: Multivariate regression analysis demonstrated that elevated serum ceruloplasmin was a determinant of albuminuria independently of conventional risk factors.

ceruloplasmin

albuminuria

ceruloplasmin

albuminuria


Input: Five-hundred eighty-five type 1 diabetic patients and 592 similar age and sex control subjects were evaluated for progression of coronary artery calcification (CAC), a marker of subclinical CAD, before and after a 2. 5-year follow-up.

CAC

coronary artery calcification


Input: No relationship of FCRN expression with age at disease onset, age at diagnosis, diagnostic delay, IgG levels or frequency of infections before or during replacement immunoglobulin treatment, the presence of lung functional abnormalities, chronic diarrhea, granulomas, lymphadenopathy, splenomegaly or autoimmune phenomena was observed.

FCRN

chronic diarrhea


Input: A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities.

aquaporin 7

abnormalities


Input: The level of chromosome breaks (spontaneous and induced), the level of DNA damage (spontaneous and induced), DNA repair potential and the distribution of polymorphic variants of GSTT1 gene are not significantly different in YA and in OP, which suggests that these factors do not appear the causative factors for HNSCC in young age.

GSTT1 gene

chromosome breaks


Input: Scaffold attachment factors SAFB1 and SAFB2: Innocent bystanders or critical players in breast tumorigenesis?

tumorigenesis


Input: In Mfrprd6 eyes, a significant 1. 5-to 2. 0-fold decrease was observed among transcripts of genes linked to retinal degeneration, including those involved in visual cycle (Rpe65, Lrat, Rgr), phototransduction (Pde6a, Guca1b, Rgs9), and photoreceptor disc morphogenesis (Rpgrip1 and Fscn2).

Lrat

retinal degeneration