Input: Aurora-A kinase (Aur-A) is a member of the serine/threonine kinase family that regulates the cell division process, and has recently been implicated in tumorigenesis.

Aurora-A kinase

tumorigenesis


Input: In addition, DJ-1 knockdown resulted in the decreased proliferation, adhesion and invasion of HepG2 cells in vitro, and inhibited the growth of HepG2-induced tumor in vivo.

adhesion


Input: The sum score (in tertiles) and an IGF1 19-CA repeat polymorphism (19/19, 19/non-19 and non-19/non-19 repeats) in combination with body size (mostly in tertiles) and (non-) occupational physical activity (> 12, 8-12 and < 8 kJ/min in the job and > 90, > 60-90, > 30-60 and ≤ 30 min/day) were analyzed by Cox regression.

regression


Input: Our results showed that there was a significant decrease in glandular expression of ANXA1 in ductal carcinoma in situ and invasive ductal carcinoma compared with either normal breast tissue or hyperplasia (P <. 0001).

hyperplasia


Input: We analyzed genetic, cognitive and social behavior in a unique individual with WS features (heart defects, small size, facies), but with an atypical deletion of a set of genes that includes GTF2IRD1, but not GTF2I.

facies


Input: This study examines the persistence and fitness of multidrug-resistant (MDR) viruses acquired during primary human immunodeficiency virus infection (PHI).

PHI

human immunodeficiency virus infection


Input: The purpose of this study was to investigate whether an experimental link could be made between the ability of a novel fibroblast growth factor 2 (FGF2) gene formulation to promote neovascularization, and its ability to restore myocardial function.

neovascularization


Input: In particular, the presence of helminth infection coincident with malaria profoundly alters the production of malaria-specific IFN-γ, IL-12p70, CXCL9, CXCL10 and CXCL11, cytokines/chemokines known to be critical in mediating malaria-specific immunity.

IFN

helminth infection


Input: L-type Ca2 + channels in Ca2 + channelopathies.

channelopathies


Input: Mechanisms postulated to link folate and B12 metabolism with cancer, including genome-wide hypomethylation, gene-specific promoter hypermethylation, and DNA uracil misincorporation, have been observed in prostate tumor cells.

cancer


Input: Under dietary high fat loading, Agtrap (-/-) mice displayed systemic metabolic dysfunction, characterized by an increased accumulation of pad fat, hypertension, dyslipidemia, and insulin resistance, along with adipose tissue inflammation.

Agtrap

inflammation


Input: Our findings provide evidence that GPR109A is a target for the drug Fumaderm and suggest that niacin should be investigated to treat psoriasis in addition to its role in treating lipid disorders.

psoriasis

psoriasis


Input: CSP-C is not expressed in B-lymphoblastoid cell lines or in the T-leukemia cell line MOLT4.

CSP-C

leukemia


Input: Exercise-induced HGF production was inversely related to peak VO2 (r =-0. 664, p < 0. 01) and positively related to levels of brain natriuretic peptide (BNP), a biochemical marker for post-infarction ventricular remodeling (r = 0. 686, p < 0. 01).

HGF

ventricular remodeling


Input: Collectively, these data suggest that the cAMP/Rap1B/B-Raf pathway modulates the expression of p27 and the cytoplasmic mislocalization of p27-cyclin D1 in tuberous sclerosis gene-regulated-renal cancer.

renal cancer


Input: The 4th gene, tyrosinase, has been previously linked to schizophrenia through the cosegregation of oculocutaneous albinism with psychosis in several pedigrees.

tyrosinase

psychosis

tyrosinase

psychosis


Input: No noticeable toxicity concerning AAV was detected as inferred from monitoring changes in animal body weight as well as basic organ structure and histological morphology, and by analyzing mouse liver and kidney function.

AAV

body weight


Input: Expression of the zebrafish Smoa1-EGFP itself did not lead to tumor formation either in founder fish or subsequent generations, however, co-expressing a constitutively active human AKT1 resulted in several tumor types, including spindle cell sarcoma, rhabdomyoma, ocular melanoma, astrocytoma, and myxoma.

rhabdomyoma


Input: We used tissue derived from patients with invasive cervical cancer (ICC) (n = 111, composed of two histologic groups: squamous cell carcinoma (n = 67) and adenocarcinoma (n = 44)), cervical intraepithelial neoplasia (CIN) III (n = 101), and non-cancer controls (NCC, n = 98).

NCC

invasive cervical cancer


Input: On multivariate analysis, endothelium-dependent dilation was inversely related to age (r =-0. 33, P < 0. 001), vessel size (r =-0. 41, P < 0. 001) but not ACE genotype (r = 0. 002, P = 0. 97).

ACE

dilation


Input: Paeonia suffruticosa Andrews (PSA) pretreatment suppressed SBC formation in the 3D skin model, and erythema formation and pigmentation in volunteers exposed to UVB irradiation.

PSA

pigmentation


Input: As Mitf is implicated in control of proliferation, we have explored the possibility that inducing Mitf expression via lipid-mediated activation of the p38 stress-signalling pathway may represent a re-pigmentation strategy.

pigmentation


Input: We also suggested the potential value of AC9 as a biomarker in the clinical diagnosis and treatment of leukemia.

leukemia


Input: CCAT2 is a lung adenocarcinoma-specific long non-coding RNA and promotes invasion of non-small cell lung cancer.

non-small cell lung cancer


Input: We assessed the contribution of AANAT gene variability to susceptibility to MD considering common and rare genetic variations through a sequential sequencing and single nucleotide polymorphism (SNP)-based genotyping approach in a sample of 445 unrelated patients with MD (257 unipolar MD, 188 bipolar depression) and 440 community-based screened control subjects.

AANAT

bipolar depression

AANAT

bipolar depression


Input: Spinal K252a treatment did not alter hypersensitivity from spinal nerve ligation (SNL), but blocked the SNL-associated increase in dopamine-β-hydroxylase (DβH) fiber density in the spinal cord dorsal horn while reducing spinal choline acetyltransferase (ChAT)-immunoreactivity.

SNL

hypersensitivity


Input: This study highlights differences both in PBGD gene mutations causing AIP and in SNPs between white and black peoples; the allele frequencies provided contribute to a better knowledge of the variability of these markers among the major population groups, especially in sub-Saharan West African and Afro-Caribbean populations.

PBGD

AIP

PBGD

AIP


Input: In 14 cases (34%), allelic imbalance was detected in chronic hepatitis or cirrhosis without HCC.

HCC

chronic hepatitis


Input: The EWS/FLI-1 fusion gene, resulting from a t (11; 22) translocation, plays a key role in the pathogenesis of Ewing' s sarcoma.

EWS

translocation


Input: We also performed the following blood tests: hemacytometric analysis including platelet count, prothrombin time, activated partial thromboplastin time, fibrinogen, erythrocyte sedimentation rate, C-reactive protein, protein S, protein C, antithrombin III, and activated protein C resistance.

antithrombin III

fibrinogen


Input: The lymphokine profile of immunocompromised patients with recurrent HCV infection or rejection does not differ principally from that of patients with HCV-induced hepatitis and cirrhosis, but seems to show a TH1 profile significantly more often.

cirrhosis


Input: MST1 functions as a key modulator of neurodegeneration in a mouse model of ALS.

neurodegeneration


Input: High frequency of CD4 + CXCR5 + TFH cells in patients with immune-active chronic hepatitis B.

active chronic hepatitis


Input: Since cytokines are believed to be involved in this process, the aim of this study was to investigate possible changes in the mRNA and protein expression of pro-inflammatory cytokines (interleukin (IL)-1alpha, IL-1beta, IL-12, IL-18) and anti-inflammatory cytokines (IL-4, IL-10, IL-13) in the human cervix during pregnancy, term and preterm labor.

preterm labor


Input: The distribution of TGIF in leiomyoma and myometrial tissues by immunohistochemistry stain, mRNA, and protein expression levels by real-time quantitative polymerase chain-reaction (QPCR) and Western blot.

TGIF

leiomyoma


Input: Rasburicase is a recombinant urate oxidase that is produced by a genetically modified Saccharomyces cerevisiae and has been approved for prophylaxis and treatment of tumor lysis syndrome in 2001.

urate oxidase

tumor lysis syndrome

urate oxidase

tumor lysis syndrome


Input: DNA2 knockdowns are deficient in HDR (homology-directed repair) and the S phase checkpoint and exhibit genome instability and sensitivity to agents that cause replication stress.

genome instability


Input: These results suggest that the HLA-DQB1 gene is involved in the pathogenesis of human dilated cardiomyopathy.

HLA-DQB1 gene

cardiomyopathy


Input: In contrast, several single nucleotide polymorphisms in CRP were significantly associated with plasma C-reactive protein levels but had no relation with coronary artery calcification.

CRP

coronary artery calcification


Input: These data indicate that Ccl-2 protein serves to integrate mechanical and endocrine signals contributing to uterine inflammation and the induction of labor and thus may represent a novel target for therapeutic prevention of preterm labor in humans.

preterm labor

preterm labor


Input: The PR isoforms positively correlated with the mRNA levels of HER/ErbB receptors and ligands associated with a more differentiated phenotype (HER3, HER4, EGF, AREG, NRG3 and NRG4) while they correlated negatively with those associated with aggressiveness (EGFR, TGFa, HB-EGF, EREG, and NRG2).

aggressiveness


Input: HFE gene variants modify the association between maternal lead burden and infant birthweight: a prospective birth cohort study in Mexico City, Mexico.

HFE

infant birthweight

HFE

infant birthweight


Input: We investigated the expression of heat shock protein 70 (Hsp70), nuclear factor of activated T cells 5 (NFAT5), and hypoxia-induced factor-1α (HIF-1α) in the placentas of normal and preeclamptic pregnancies and in human placental hypoxia models in vitro to examine the regulatory mechanisms of placental Hsp70 expression.

hypoxia


Input: The effects of ES (0. 3-0. 5 mA) or the central administration of corticotropin-releasing factor (CRF; astressin, 10 microg/kg) or cholecystokinin (CCKB; 20 microg/kg) receptor antagonists and peripheral glucocorticoid receptor (RU-486; 10 mg/kg) or ganglion (hexamethonium; 15 mg/kg) blockers on TNBS-induced colitis were studied by the assessment of macroscopic score, histological analysis and tissue myeloperoxidase activity.

glucocorticoid receptor

ganglion


Input: Our findings further support that LRRK1 would cause a subset of OSMD cases.

OSMD

OSMD


Input: GABBR2 is a genetic factor that determines RTT-or EE-like phenotype expression depending on the variant positions.

EE

EE


Input: Both the simple obesity and the normal-weight group had the Ala55Val variants of Ala/Ala, Val/Val and Ala/Val in the UCP2 gene, and the Ala55Val genotype distributions between the two groups was significantly different (chi2 = 11. 97, P < 0. 05).

UCP2 gene

weight


Input: In addition, there was also no significant difference in the nm23-H1/NDP kinase staining intensity of primary and metastatic lymph node lesions of tumors with lymph node metastases.

NDP

lymph node metastases


Input: Upregulated mRNAs included heme oxygenase 1 (HO1), 8-oxoguanine DNA glycosylase 1 (OGG1), glutathione reductase (GSR), cyclin-dependent kinase inhibitor 1A (CDKN1 [p21 (waf1)]) and Mn + superoxide dismutase precursor (SOD2); while cytochrome P450 1A1 (CYP1A1) and heat shock 70kD protein 1 (HSPA1A) were downregulated.

glutathione reductase

shock


Input: The aim of the study is to determine whether serum concentrations of interleukin (IL)-1and IL-6 correlate with indices of bone mineral metabolism in children with idiopathic osteoporosis and osteopenia.

idiopathic osteoporosis


Input: MED1 mutations have been associated with microsatellite instability and accelerated colorectal cancer (CRC) tumorigenesis.

tumorigenesis


Input: Intravitreal administration of either species of PEDF significantly inhibited retinal neovascularization (83% for PEDF A and 55% for PEDF B; P = 0. 024 and 0. 0026, respectively).

PEDF

retinal neovascularization


Input: Two examples include the antimetastatic, tumor suppressor genes, desmocollin 3 (DSC3) and MASPIN, which are frequently silenced in this manner in human breast cancer.

MASPIN

breast cancer

MASPIN

breast cancer


Input: A recent genome-wide association study in Caucasians revealed that three loci (rs174547 in fatty acid desaturase 1 (FADS1), rs2338104 near mevalonate kinase/methylmalonic aciduria, cobalamin deficiency, cblB type (MVK/MMAB) and rs10468017 near hepatic lipase (LIPC)) influence the plasma concentrations of high-density lipoprotein-cholesterol (HDL-C) and triglycerides (TG).

LIPC

cobalamin deficiency


Input: Additional studies will examine whether glyoxalase-I has an impact beyond that of a biomarker to predict the genetic predisposition to anxiety-and depression-like behavior.

glyoxalase-I

depression

glyoxalase-I

depression


Input: By 1 year most Spnb3 (-/-) animals develop a myoclonic seizure disorder with significant reductions of EAAT4, EAAT1, GluRdelta, IP3R, and NCAM140.

myoclonic seizure disorder


Input: Immunohistochemistry verified that infection with CNHK500-p53 was associated with selective replication of adenovirus and production of p53 protein in telomerase-positive and hypoxia-inducible factor-dependent HCC cells.

HCC

adenovirus


Input: SGK1 transcript levels were differentially increased by differentiation or hypoxia (treatment with CoCl (2)).

hypoxia


Input: However, the role of RALT in cardiac hypertrophy remains unclear.

RALT

cardiac hypertrophy


Input: The VHL tumor suppressor gene (TSG) at 3p25-26 is strongly implicated in the pathogenesis of clear cell renal cell carcinoma (cRCC).

TSG

clear cell renal cell carcinoma


Input: Southern analysis and long distance PCR confirmed BCL3/IgH Calpha translocation in one case.

translocation


Input: Based on these clinical and molecular findings, we propose the association of PPP1R12A pathogenic variants with a congenital malformations syndrome affecting the embryogenesis of the brain and genitourinary systems and including disorders of sex development.

disorders of sex development

disorders of sex development


Input: This study was carried out to investigate the impact of IL-2 deficiency on the neuroendocrine system in normal colon, and the neuroendocrine changes during colonic inflammation.

inflammation


Input: BACKGROUND: Single nucleotide polymorphisms (SNPs) rs1035798 in RAGE gene, rs2073617 and rs2073618 in TNFRSF11B, and rs3732410 in Golgb1 will be investigated on whether there is an association with hemorrhagic stroke (HS) in Chinese population.

hemorrhagic stroke


Input: Here we report that SERPINB13, a gene downregulated in head and neck cancers, is a novel RUNX1transcriptional target.

cancers


Input: KIT expression may represent a potential diagnostic pitfall in the evaluation of YWHAE-NUTM2A/B endometrial stromal sarcoma presenting with pelvic/abdominal mass, particularly in situations where its uterine origin is not definitive, and thus a panel of antibodies that includes ANO1 and cyclin D1 is necessary.

cyclin D1

abdominal mass


Input: In this report, we describe an 8-year-old girl with mental retardation, postnatal growth deficiency, generalized muscular hypotonia, seizures, microcephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46, XX, der (17) t (5; 17) (p13. 1; p13. 3) mat chromosome complement.

pectus excavatum


Input: Ferrochelatase-deficient (fch/fch) mice are an animal model for human EPP.

Ferrochelatase

EPP

Ferrochelatase

EPP


Input: Thus, priming conditions of leukemia-specific CD4 T cells critically determines the balance between immunity or tolerance toward leukemia.

leukemia


Input: We demonstrate that patients with Loeys-Dietz syndrome (LDS), an autosomal dominant disorder caused by mutations in the genes encoding receptor subunits for TGFβ, TGFBR1 and TGFBR2, are strongly predisposed to develop allergic disease, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal disease.

food allergy


Input: In conclusion, INI-1, a partner gene for ALL-1, is considered to be highly conserved in acute leukemia cases.

INI

acute leukemia


Input: We demonstrated that hypoxia and reoxygenation did not alter APP mRNA and protein level, However compared to those of controls, BACE1 mRNA levels were up-regulated by 31. 5% (P = 0. 028) and 35. 1% (P = 0. 005) at 12h and 24h and the protein levels increased to 22% (P = 0. 021), 42% (P = 0. 000) and 51. 5% (P = 0. 000) at 0h, 12h and 24h after reoxygenation, respectively.

APP

hypoxia


Input: Three clones, with Bak protein levels similar to those seen in colon cancer cell lines and significantly lower than those found in the parental cells, were further evaluated.

Bak

colon cancer

Bak

colon cancer


Input: Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1.

long QT syndrome 1

long QT syndrome 1


Input: These studies showed that, like in the mouse, human PAP7 is highly expressed in steroidogenic tissues, where it follows the pattern of PRKAR1A expression, suggesting that it participates in PRKAR1A-mediated tumorigenesis and hypercortisolism.

hypercortisolism


Input: Seemingly unaffected siblings of children with CYP1B1-related primary congenital/infantile glaucoma should undergo genetic testing because of variable expressivity for the phenotype; such testing should also be considered for other asymptomatic relatives, especially in consanguineous families.

variable expressivity


Input: Since there is no information on expression of PI3K isoforms in oral cancer, we studied the expression of different isoforms of PI3K (p110α, p110γ, PI3K-C2, Vps34p and p85α) in tumor samples and PBMC by RT and q-RTPCR and serum levels of PI3K p110α by SPR and ELISA techniques in 108 patients with tobacco-related oral squamous cell carcinoma (OSCC) and 46 normal subjects.

SPR

squamous cell carcinoma


Input: Moreover, the relationship among hypoxia, histone acetylation disorder, low lncRNA-LET expression level, and metastasis was found in clinical hepatocellular carcinoma samples.

lncRNA-LET

hepatocellular carcinoma


Input: Combined allelic loss of both BRCA1 and BRCA2 gene was seen in 12 of the 17 (71%) informative hereditary tumours, whereas copy number losses of both BRCA genes was seen in only 4/14 (29%) sporadic control tumours studied by FISH.

BRCA2 gene

sporadic


Input: In summary, our data shows that USP44 is epigenetically inactivated in colorectal adenomas, but this alone is not sufficient to cause aneuploidy in colorectal neoplasia.

aneuploidy


Input: In vivo treatment of insulin-resistant high-fat diet (HFD)-fed C57BL/6 mice with CFE (200 mg/kg/d) for 6 weeks considerably reduced insulin resistance, glucose intolerance, plasma triacylglycerol, non-esterified fatty acids (NEFA) and LDL/VLDL cholesterol.

NEFA

insulin resistance


Input: Mechanistically, we show that ANKRD11 restores a native conformation to the mutant p53 protein and causes dissociation of the mutant p53-p63 complex.

dissociation


Input: Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best' s disease).

Best' s disease

Best' s disease


Input: These data suggest that hypoxic environments upregulate the IL-8 gene via cooperation of NF-kappaB and AP-1 and contribute to the progression and metastasis of human pancreatic cancer.

hypoxic


Input: Our data indicate that a deficient Th17 pathway suppresses the accumulation of IFN-γ producing cells in liver during the early phase of cholangitis.

IFN

cholangitis


Input: 3) the view that the very properties of accumulating anergic self-reactive CD5 + B lymphocytes may provide a bridge between autoimmunity and immune incompetence.

autoimmunity


Input: NNK upregulated ERK1/2 phosphorylation, stimulated expression of the gene encoding the tumor-promoter HGF, downregulated expression of the tumor suppressor gene CDKN2A, and induced tumorigenic transformation of MCF10A cells.

tumorigenic transformation


Input: In fact, AAV-BDNF-treated rats displayed plantar, weight-supported hindlimb stepping on a stationary platform, that is, without the assistance of a moving treadmill and without step training.

AAV

weight


Input: In 1989, van Schaftingen has reported decreased D-glycerate kinase activity in the liver of a single patient with D-glyceric aciduria.

glycerate kinase

D-glyceric aciduria

glycerate kinase

D-glyceric aciduria


Input: The more prominent neurological signs observed in FAD may be explained by more severe neurodegeneration than are found in sporadic cases.

FAD

sporadic


Input: These results suggest that the interaction between Nedd4-2 and ENaC may play a crucial role in Na + homeostasis and blood pressure (BP) regulation.

blood pressure


Input: HER-2/neu overexpression and/or gene amplification occurs in several human malignancies, frequently correlates with tumor aggressiveness, and provides the basis for treatment with trastuzumab.

aggressiveness


Input: In conclusion, sequence analysis of the DENND1A gene of patients with PCOS did not identify alterations that alone could be responsible for the PCOS pathogenesis, but a missense SNP (rs189947178) was identified in one patient and significantly more carriers of rs189947178 were found among patients with PCOS and moderate hirsutism vs. controls.

DENND1A gene

hirsutism


Input: Corticosterone produced dose-dependent increases in depression-like behavior and decreases in reelin expression, neurogenesis, and cell maturation regardless of mouse genotype.

reelin

depression

reelin

depression


Input: Analysis of filtered gene expression data using Ingenuity Pathways Analysis (Ingenuity Systems, http://www. ingenuity. com) revealed that a number of genes pertaining to neuronal plasticity (RhoA, Rac1, Cdc42, BDNF, and Trk), neurodegeneration (Caspase3, Calpain 1, Bax, a Cytochrome c, and Smac/Diablo), and inflammation/immune-response pathways (TNF-alpha, CCL2, Cox2) were modulated in a temporal fashion after KA treatment.

neurodegeneration


Input: Although the association between the common allelic variation of apolipoprotein E (APOE), fracture risk, bone loss and bone mineral density (BMD) has been examined in several studies, the results of these investigations are contradictory.

APOE

bone mineral density


Input: These results demonstrate a new mechanism whereby p38alpha negatively regulates cell proliferation by antagonizing the JNK-c-Jun pathway in multiple cell types and in liver cancer development.

liver cancer

liver cancer


Input: Acute cystitis demonstrated the most robust changes (P </= 0. 005; IL-1beta, 330-fold increase; IL-2, 20-fold increase; IL-4, 8-fold increase; IL-6, 80-fold increase) in cytokine mRNA expression and TNF-alpha or TNF-beta mRNA were only increased (2-10-fold) after acute cystitis.

acute cystitis


Input: To determine whether other mutations occur in the NBFs of CFTR, we determined the nucleotide sequences of exons 9, 10, 11 and 12 (encoding the first NBF) and exons 20, 21 and 22 (encoding most of the second NBF) from 20 Caucasian and 18 American-black CF patients.

CFTR

CF

CFTR

CF


Input: Morphologically, HDGF-siRNA-treated tumors exhibited markedly reduced blood vessel formation and increased necrosis, whereas the Ki67 labeling indices were similar in tumors treated with controls.

HDGF

necrosis


Input: Comparative analysis of the NF2, TP53, PTEN, KRAS, NRAS and HRAS genes in sporadic and radiation-induced human meningiomas.

sporadic


Input: Recently, Branson and coworkers reported a strong association between binge-eating disorder (BED) and variants in the melanocortin-4 receptor gene (MC4R).

binge-eating disorder


Input: In cultured vascular smooth muscle cells, Ang II promotes translocation of Atox1 to the nucleus, thereby increasing SOD3 transcription by binding to Atox1-responsive element in the SOD3 promoter.

translocation


Input: Using an atypical microdeletion, which does not encompass PLP1, we implicate a novel gene GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.

behavioral problems


Input: Statistical analysis showed that high HET/SAF-B expression in these tumors was associated with low S-phase fraction and with aneuploidy, consistent with our results from transfection experiments in tissue culture cells.

HET

aneuploidy


Input: The effects of the polymorphisms in OSAHS group on body mass index (BMI), neck circumference (NC), waist/hip rate (WHR), apnea-hypopnea index (AHI), systolic blood pressure (SBP), diastolic blood pressure (DBP) were analyzed.

DBP

systolic blood pressure


Input: To investigate its functional importance in colorectal cancer, HCT-15 and LoVo colon cancer cells were depleted of NEDD4 by small interfering RNA.

colon cancer


Input: It is further hypothesized that MC2R blockade should allow using lower glucocorticoid doses to treat congenital adrenal hyperplasia (CAH) due to enzyme deficiency of either 21-hydroxylase (CYP21B) or 11-hydroxylase (CYP11B1), thus reaching a better final adult height than with current therapeutic strategies.

height


Input: Several lines of evidence in both human and animal studies suggest that variation in neuropeptide Y (NPY) or its receptor genes (NPY1R, NPY2R and NPY5R) is associated with alcohol dependence as well as alcohol withdrawal symptoms.

alcohol dependence

alcohol dependence


Input: Postmortem brain studies have shown that HDAC1-a lysine deacetylase with broad activity against histones and nonhistone proteins-is frequently expressed at increased levels in prefrontal cortex (PFC) of subjects diagnosed with schizophrenia and related disease.

schizophrenia

schizophrenia


Input: Six genes were identified as of interest for a follow-up, based on the strength of the association and based on the interest as potential candidate target for developing new treatment for depression: Solute Carrier Family 4 Member 10 (SLC4A10), Dipeptidyl Peptidase IV (DPP4), Dopamine Receptor D3 (DRD3), Zinc Finger Protein 80 (ZNF80), Nitric Oxide Synthase 2A (NOS2A) and Peroxisome Proliferator-Activated Receptor-Gamma, Coactivator 1, Alpha (PPARGC1A).

depression

depression


Input: Human and murine Jak2 transcripts are expressed at similar levels, and mice develop modest increases in hemoglobin and platelet levels reminiscent of human JAK2 V617F-positive essential thrombocythemia.

hemoglobin


Input: Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

porphobilinogen deaminase

acute intermittent porphyria

porphobilinogen deaminase

acute intermittent porphyria


Input: Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: response to bariatric surgery.

leptin receptor

uniparental disomy


Input: TNF-alpha treatment led to a strong translocation of p65 and p50, whereas pretreatment with IL-10 followed by TNF-alpha blocked p65 translocation but did not alter the strong translocation of p50.

TNF-alpha

translocation


Input: We validated this technique with T cell lines and peripheral blood mononuclear cells (PBMCs) from ADA-deficient patients that showed severely reduced levels of ADA expression (ADA-dull) by FACS and Western blot analyses.

ADA

dull


Input: The CCND1 c. 870G & gt; A polymorphism is a risk factor for t (11; 14) (q13; q32) multiple myeloma.

multiple myeloma

multiple myeloma


Input: Genes that are connected to adhesion and inflammation: E-selectin, ICAM-1 integrins, glycoprotein IIb, IL-2, IL-4, IL-1b, and transforming growth factor-beta (TGF-beta).

inflammation


Input: Overexpressed HIF-1 alpha and VEGF RNA quickly decreased to the normal level in the scar regions at 7 to 10 d after the occurrence of ischemic colitis.

VEGF

scar


Input: This study found that MAC was not required for immune mediated demyelination; but that MAC enhanced early symptoms and early demyelination in EAN, either by direct lysis or by sub-lytic induction of vascular endothelial expression of ICAM-1 and P-selectin.

P-selectin

demyelination


Input: Akt/protein kinase B and ERK1/2, two protein kinases critical for cell growth and hypertrophy, were activated in diabetes, and AS treatment almost abolished their activation.

protein kinase B

hypertrophy


Input: We analyzed somatic mutation of BAX and BAK genes in 47 gastric, 47 colorectal, 47 breast, 47 lung and 47 prostate carcinomas, and 47 acute leukemias by a polymerase chain reaction and single-strand conformation polymorphism assay.

BAX

somatic mutation


Input: They are associated with aggressive behavior and poor prognosis, and typically do not express hormone receptors or HER-2 (" triple-negative " phenotype).

aggressive behavior


Input: A novel type 1 diabetes locus was mapped to the interleukin-2 receptor alpha gene (IL2RA) on chromosome 10p15. 1, encoding an important modulator of immunity.

alpha gene

type 1 diabetes


Input: With rare exceptions, all five anti-PSMA mAbs reacted strongly with the neovasculature of a wide spectrum of malignant neoplasms: conventional (clear cell) renal carcinoma (11 of 11 cases), transitional cell carcinoma of the urinary bladder (6 of 6 cases), testicular embryonal carcinoma (1 of 1 case), colonic adenocarcinoma (5 of 5 cases), neuroendocrine carcinoma (5 of 5 cases), glioblastoma multiforme (1 of 1 cases), malignant melanoma (5 of 5 cases), pancreatic duct carcinoma (4 of 4 cases), non-small cell lung carcinoma (5 of 5 cases), soft tissue sarcoma (5 of 6 cases), breast carcinoma (5 of 6 cases), and prostatic adenocarcinoma (2 of 12 cases).

PSMA

testicular embryonal carcinoma


Input: Rat NP22 may affect microtubule or microfilament function, thereby regulating the neuroplastic changes associated with the development of alcohol dependence and physical withdrawal.

alcohol dependence

alcohol dependence


Input: The translocation results in a fusion gene between NUP98 at 11p15 and PSIP1 encoding two transcriptional coactivators, p52 and p75, at 9p22.

translocation


Input: Thus, IGF-I overexpression had no significant effect on weight gain and islet cell compensation in response to high-fat diet-induced obesity.

IGF-I

weight gain


Input: Mutations in the AIRE PHD finger have been linked to autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).

AIRE

APECED

AIRE

APECED


Input: Most CD8 + cells in skin lesions of CD3 + CD4 + mycosis fungoides are CD3 + T cells that lack CD11b, CD16, CD56, CD57, and human Hanukah factor mRNA.

skin lesions


Input: In two of these families we used a functional assay to demonstrate an almost total loss of cathepsin C activity in PLS patients and reduced activity in obligate carriers.

cathepsin C

PLS

cathepsin C

PLS


Input: Nevertheless, severe malaria was not associated with polymorphisms located at positions-308A and-238A in the TNF alpha gene promoter or with a high TNF level in plasma in children from Bamako, Mali.

alpha gene

severe malaria


Input: The objectives of this study were to investigate the dysplasia, histological malformations, and genetic abnormalities in male rats induced by maternal exposure to di-n-butyl phthalate (DBP).

DBP

abnormalities


Input: Comparison of the three predicted human MTG8-related polypeptides to their Drosophila counterpart (nervy) highlights four separate regions of sequence conservation that may correspond to distinct domains.

nervy


Input: Pyrosequencing analysis of the promoter region revealed that LRRC3B was significantly hypermethylated in gastric tumors.

gastric tumors

gastric tumors


Input: Our results suggest that TNFAIP8 might be an effective therapeutic target for ESCC in the future.

ESCC

ESCC


Input: The authors previously reported ornithine cytotoxicity in ornithine-δ-aminotransferase (OAT)-deficient human retinal pigment epithelial (RPE) cells as an in vitro model of gyrate atrophy of the choroid and retina (GA).

RPE

gyrate atrophy of the choroid and retina


Input: This study sought to identify loci for coronary artery calcification (CAC) in patients with chronic kidney disease (CKD).

CAC

coronary artery calcification


Input: 24 testicular germ cell tumors, 4 testicular cancer cell lines (TERA I, TERA II, HTE, HTH), 8 benign testicular tumors and 9 samples of normal testicular parenchyma were examined.

HTE

testicular tumors


Input: A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

hereditary neuropathy with liability to pressure palsies

hereditary neuropathy with liability to pressure palsies


Input: We found that expression of CD151 was positively related to metastatic potential of HCC cell lines, and modified cells with CD151 (high) showed higher secretion of matrix metalloproteinase 9 and aggressiveness in vitro and higher metastatic ability in vivo.

HCC

aggressiveness


Input: Orexin A expression and promoter methylation in patients with cannabis dependence in comparison to nicotine-dependent cigarette smokers and nonsmokers.

Orexin

cannabis dependence

Orexin

cannabis dependence


Input: Here we show that forced expression of occludin induces anoikis and promotes oxidative stress-induced premature senescence in breast carcinoma cells, which is accompanied by upregulation of negative cell cycle regulators such as p16 (INK4A), p21 (Waf1/Cip1) and p27 (Kip1) but not p53.

occludin

breast carcinoma

occludin

breast carcinoma


Input: Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.

GARS

distal hereditary motor neuropathy type V

GARS

distal hereditary motor neuropathy type V


Input: Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

keratin 1

striate palmoplantar keratoderma

keratin 1

striate palmoplantar keratoderma


Input: African American, Caucasian, Chinese, and Japanese women in SWAN enrolled in the Sex Steroid Hormone Genetics Protocol from whom fasting glucose and insulin measures (for estimating insulin sensitivity), diabetes status, and metabolic syndrome classification were obtained.

SWAN

insulin sensitivity


Input: One of the most common forms of carcinoma in women, cervical invasive squamous cell carcinoma (CIC), often coexists with multiple lesions of cervical intraepithelial neoplasia (CIN).

CIC

squamous cell carcinoma


Input: Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.

KRAS

encephalocraniocutaneous lipomatosis

KRAS

encephalocraniocutaneous lipomatosis


Input: Additionally, we demonstrated that reduction of ERK1/2 activity led to C/EBPbeta Thr (235) dephosphorylation and moderate growth retardation.

growth retardation


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

body weight


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: Bone marrow transfer experiments showing that macrophages from ApoE (-/-) Akt1 (-/-) donors were not sufficient to worsen atherogenesis when transferred to ApoE (-/-) recipients suggest that lesion expansion in the ApoE (-/-) Akt1 (-/-) strain might be of vascular origin.

atherogenesis


Input: We used a candidate gene strategy in a study of polymorphic markers within or close to genes encoding cytokines (interferon-gamma (IFN-gamma), interleukin-2 (IL-2), IL-4, IL-4 receptor (IL-4R), IL-10, transforming growth factor-beta1 and-beta2) and myelin proteins (2', 3'-cyclic-nucleotide 3'-phosphohydrolase (CNP: ase), myelin associated glycoprotein, oligodendrocyte myelin glycoprotein, proteolipid protein) in 34 Swedish multiplex MS families and in 147 sporadic MS patients and 95 healthy controls.

IFN

sporadic


Input: Combining TNFSF15 and ASCA IgA can be used as a predictor for the stenosis/perforating phenotype of Crohn' s disease.

stenosis


Input: Predominant TcR V beta3 gene usage in liver tissue in primary sclerosing cholangitis may indicate the presence of a specific antigen in this tissue with the capacity of selectively driving T cells, utilizing the V beta3 gene segment product, in primary sclerosing cholangitis patients.

primary sclerosing cholangitis


Input: We genotyped a set of 341 single nucleotide polymorphisms (SNPs) encompassing the EphB2 locus, including known and novel coding and noncoding variants, in 490 AA sporadic PC cases and 567 matched controls.

sporadic


Input: Furthermore, DNP also increased HSP70-2 RNA transcription through directly binding to the hypoxia-responsive elements (HRE) and heat shock elements (HSE) located in the HSP70-2 promoter.

shock


Input: Heart failure was produced by myocardial infarction, and was associated with markedly increased AMPK and SIRT1 protein levels.

Heart failure

Heart failure


Input: The differential expression of 105 cancer-related microRNAs was examined and compared in HCT116 cells and HKe3 cells (HCT116 cells in which mutated KRAS allele was deleted) in 3D culture.

cancer


Input: Intraperitoneal injection of LSD1 inhibitor pargyline from 3 d to 14 d after inoculation of MRMT-1 cancer cells reduced bone cancer pain behaviors.

bone cancer


Input: Unselected patients (108) who underwent curative colorectal resection for sporadic colorectal cancer in a three-year period were evaluated for MSI using 6 microsatellite markers, and for the presence of p27, p53, Fhit, Mlh1 and Msh2 proteins by means of immunostaining.

sporadic


Input: RESULTS: While there was no change in Slit3, Robo1 or Robo4 expression, Slit2 expression was significantly lower in obese placenta compared to lean placenta.

obese


Input: Tubular and interstitial PTEN expression was dramatically decreased in several models of renal injury, including aristolochic acid nephropathy (AAN), streptozotocin (STZ)-mediated injury and ureteral unilateral obstruction (UUO), correlating with Akt, p53 and SMAD3 activation and fibrosis.

STZ

aristolochic acid nephropathy


Input: We performed a sequence analysis of PINK1 in 115 patients diagnosed with Parkinson' s disease (PD) from southern Italy, including 93 sporadic cases with EOPD, 9 familial cases with EOPD, and 13 familial cases with LOPD.

sporadic


Input: To evaluate the diversity of the CD4 + T-cell repertoire in this disorder, a detailed clonal analysis was performed in five individuals with active sarcoidosis who demonstrated preferential accumulation of T cells expressing the T-cell receptor variable gene family V beta 8 in either the lung or blood.

sarcoidosis


Input: In older women, SHBG is negatively associated with MetS independently of confounders, including inflammatory markers and insulin resistance.

SHBG

insulin resistance


Input: We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients.

Pfeiffer syndrome

Pfeiffer syndrome


Input: Persons with unexplained early-onset stroke have been targeted for screening surveys for Fabry disease, the most common of the three X-linked lysosomal disorders, because Fabry patients with stroke are more likely to have the life-threatening progressive cardiac and renal manifestations and would therefore most benefit from early diagnosis and intervention with enzyme replacement therapy (ERT).

ERT

stroke


Input: Transfection of Sctr in Y1 adrenocortical carcinoma cells, expressing low endogenous levels of Sctr, stimulates cell proliferation also, in part, via the PI3K/AKT signaling cascade.

Sctr

adrenocortical carcinoma


Input: In this study, a novel dual-regulated oncolytic adenovirus GD55 targeting HCC was first constructed based on our cancer targeted gene-viral therapeutic strategy.

HCC

adenovirus


Input: PATIENTS AND METHODS: Pretreatment tumor biopsy specimens from 50 patients with NSCLC including stage IIIB with malignant pleural effusion or stage IV or recurrent disease were analyzed for p53, Bcl-2, Bax, and ERCC1 expression by immunohistochemistry.

malignant pleural effusion


Input: Our results demonstrate: (i) the major histocompatibility complex (MHC: H-2 in mouse, HLA in man: mouse chromosome 17/human 6p; candidates class II and class III including TNF alpha/beta genes) shows both linkage to, and allelic association with, leprosy per se, but is only weakly associated with visceral leishmaniasis and shows neither linkage to nor allelic association with tuberculosis; (ii) no evidence for linkage between NRAMP1, the positionally cloned candidate for the murine macrophage resistance gene Ity/Lsh/Bcg (mouse chromosome 1/human 2q35), and susceptibility to tuberculosis or visceral leishmaniasis could be demonstrated in this Brazilian population; (iii) the region of human chromosome 17q (candidates NOS2A, SCYA2-5) homologous with distal mouse chromosome 11, originally identified as carrying the Scl1 gene controlling healing versus nonhealing responses to Leishmania major, is linked to tuberculosis susceptibility; and (iv) the' T helper 2' cytokine gene cluster (proximal murine chromosome 11/human 5q; candidates IL4, IL5, IL9, IRF1, CD14) controlling later phases of murine L. major infection, is not linked to human disease susceptibility for any of the three infections, but shows linkage to and highly significant allelic association with ability to mount an immune response to mycobacterial antigens.

leprosy


Input: Importantly, due to the restricted expression of IL-22R1, IL-22 therapy is expected to have few side effects, thus making IL-22 a potential candidate for treatment of alcoholic liver disease.

alcoholic liver disease


Input: We thus found it relevant to elucidate whether parental HLA-C and-Bw polymorphism play a role in recurrent miscarriage (RM).

HLA-C

recurrent miscarriage


Input: Recently, heterozygous missense mutations in KIF22, a gene which encodes a member of the kinesin-like protein family, have been identified in sporadic as well as familial cases of SEMDJL2.

sporadic


Input: Differentiation induction and proliferation inhibition were required for optimal suppression of leukemogenesis, as indicated by the effects of p42 C/EBPalpha, which were more potent than those of K298E C/EBPalpha, a mutant defective in DNA binding and transcription activation that failed to induce granulocyte differentiation.

leukemogenesis


Input: A subtype of CDP, X-linked dominant chondrodysplasia punctata (CDPX2), known also as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia.

CDP

skeletal dysplasia


Input: These data suggest that besides B27, other HLA-linked factors influence susceptibility to spondylitic disorders and might act as' modifier' genes for the type and severity of spondylo-arthropathy in a B27-positive individual.

arthropathy


Input: HLA analysis did not show any allelic association of C4A * Q0 or C4B * Q0 with any HLA antigen in vitiligo, but confirmed the previous findings of a negative association with HLA-DR3 and a positive association with HLA-DR4.

vitiligo


Input: Preselected clinical and laboratory variables (age, sex, location of VTE, body mass index, factor V Leiden, prothrombin G20210A mutation, D-dimer, and in vitro thrombin generation) were analyzed in a Cox proportional hazards model, and those variables that were significantly associated with recurrence were used to compute risk scores.

factor V Leiden

body mass index


Input: Overexpression of the Myc-Skp2-Miz1 complex is found in metastatic human cancers and is correlated with RhoA expression.

cancers


Input: Although certain atypical histologic features were observed in the FOSB-rearranged EH, including solid growth, increased cellularity, mild to moderate nuclear pleomorphism, and necrosis in 3/9 cases, no overt sarcomatous areas were discerned to objectively separate the lesions from the fusion-negative EH.

FOSB

necrosis


Input: By relieving a cAMP-negative constraint, PDE4B plays an essential role in T (H) 2-cell activation and dendritic cell recruitment during airway inflammation.

inflammation


Input: Using tandem mass spectrometric analysis, we now have established that the C106 thiol and the C23-C45 disulfide bond are required for HMGB1 to induce nuclear NF-κB translocation and tumor necrosis factor (TNF) production in macrophages.

TNF

translocation


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.

alcohol intake


Input: In conclusion, a signaling pathway for the development of fibrosis involves the regulation of TIMP-1 expression by phosphorylated JunD.

JunD

fibrosis


Input: We further suggest that the failure of FMRP to oligomerize, caused by the I304N mutation, may contribute to the pathophysiological events leading to fragile X syndrome.

FMRP

fragile X syndrome

FMRP

fragile X syndrome


Input: A case-control study was designed to investigate the effects of eight known risk factors [breast feeding, ABO incompatibility, premature birth, infection, cephalohematoma, asphyxia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and variant UDP-glucuronosyltransferase 1A1 (UGT1A1) gene] and a suspicious analog [organic anion transporter 2 (OATP 2) gene] on severe hyperbilirubinemia in Taiwanese neonates.

OATP

cephalohematoma


Input: The promoter methylation of DAPK1, FHIT, MGMT, and CDKN2A in cervical cancer vs. intraepithelial neoplasia vs. normal cervical tissue was 75. 5 vs. 31. 8 vs. 4. 2% (p < 0. 0001), 66. 0 vs. 59. 1 vs. 25. 0% (p = 0. 0033), 34. 0 vs. 27. 3 vs. 20. 8% (p = 0. 76), and 17. 0 vs. 31. 8 vs. 8. 3% (p = 0. 11), respectively.

MGMT

intraepithelial neoplasia


Input: These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.

ACD/MPV

ACD/MPV


Input: Also, Ki-67 proliferation index â  ¥ 20% in more studies was associated with p53-positive. Therefore, tumors which are HER2-positive and have a Ki-67â  ¥ 20% had a more aggressive behavior compared to HER2-positive and Ki-67 < 20% lesions.

aggressive behavior


Input: Ten Aza-dC and/or TSA up-regulated genes (CPEB1, CD9, GJA1, BCL7c, GADD45G, AKAP12, TFPI2, CCNA1, SPARC, and BNIP3) were selected for methylation analysis in six MM cell lines, 24 samples from patients with monoclonal gammopathy of undetermined significance (MGUS), and 111 samples from patients with MM.

monoclonal gammopathy of undetermined significance


Input: The mutation was heteroplasmic in muscle, blood, and fibroblasts from the patient and abundantly present in COX-deficient fibers, but less abundant in COX-positive fibers; it was not found in blood samples from the patient' s asymptomatic maternal relatives.

COX

asymptomatic


Input: Cytogenetic analysis of amniocytes revealed an unbalanced de novo translocation between chromosomes X and Y [karyotype 46, X, der (X) t (X; Y) (p22. 3; q11. 2). ish der (X) (DXZ1 +, DMD +, KAL-, STS-, SRY-), 22q11. 2 (Tuple1 x 2)].

SRY

translocation


Input: In Scandinavian sarcoidosis patients, we have previously described a correlation between lung-accumulated CD4 + T cells expressing the T-cell receptor (TCR) V alpha 2. 3 gene segment and a particular HLA type (DR3 [17], DQ2).

sarcoidosis


Input: Serum IL-4 levels in the mild, moderate, and severe groups were significantly higher than those in the control group; significant differences were found among these three groups with increased severity of AD.

mild


Input: Rapid early weight gain leads to taller childhood stature and higher insulin-like growth factor I (IGF-I) levels, possibly through early induction of growth hormone (GH) receptor numbers, and such children are also at risk of childhood obesity.

IGF-I

weight gain


Input: EMS spectrum disorder also showed similar findings, but with DRB1 * 04 being a risk factor and DRB1 * 07 and DQA1 * 0201 being protective.

EMS

EMS


Input: The expression of TFF2 was immunohistochemically analyzed in paraffin-embedded samples from 119 patients with endoscopic biopsy and subtotal gastrectomy specimens of gastric mucosal lesions, including 16 cases of chronic superficial gastritis (CSG), 20 chronic atrophic gastritis (CAG), 35 intestinal metaplasia (IM), 23 gastric epithelial dysplasia (GED) and 25 gastric carcinoma (CA), and Helicobacter pylori infection was detected by Warthin-Starry staining.

epithelial dysplasia


Input: The proliferating cell nuclear antigen (PCNA) (by immunohistochemistry) and the HDV RNA (by in situ hybridization) were stained in neoplastic and non-neoplastic liver tissues of 19 patients with chronic HDV infection, including four cases of cirrhosis with superimposed hepatocellular carcinoma (HCC).

PCNA

non-neoplastic


Input: Thirteen nonsynonymous variants, 5 of which had a minor allele frequency of < 0. 05, were genotyped in 210 familial cases, 47 of which with a known TMPRSS2-ERG status, 329 sporadic cases, and 512 controls.

sporadic


Input: DNA repair gene XRCC1 polymorphisms, smoking, and bladder cancer risk: a meta-analysis.

smoking


Input: In this study, a comprehensive genetic analysis of SMAD4, BMPR1A, PTEN and ENG is performed through direct sequencing and multiplex ligation-dependent probe amplification (MLPA) in JPS patients.

ENG

JPS

ENG

JPS


Input: Whether mutations in the melanocortin-4 receptor (MC4R) are the cause of binge eating disorder was controversial.

binge eating disorder


Input: A variable number of tandem repeats (VNTR) polymorphism in the promoter of PTTG1IP, pituitary tumor transforming gene binding factor targeted by estrogen receptor α (ERα) in endocrine neoplasia, has been shown to be functional, but its relevance to cancer etiology was unknown.

endocrine neoplasia


Input: Given the neuroprotective activity of FGF-2, the data presented here might be relevant to the deficit in cognition and other symptoms that appear in schizophrenia.

schizophrenia

schizophrenia


Input: Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus.

chilblain lupus

chilblain lupus


Input: In addition, interactions between genotype and smoking, benign breast disease, family history of breast cancer, body mass index (BMI), alcohol consumption, and hormonal risk factors, hormone receptor status, and breast cancer pathology were calculated also using logistic regression and χ (2).

hormone receptor

smoking


Input: This locus harbours four strong candidate genes for schizophrenia: atractin (ATRN), pantonate-kinase2 (PANK2), oxytocin (OXT) and arginine-vasopressin (AVP).

schizophrenia

schizophrenia


Input: Furthermore, Epo increased the secretion of interleukin (IL)-4, IL-5, IL-6, IL-8, IL-10, IL-12, IL-13, GM-CSF and interferon-γ by A2780 cells that grew in hypoxic conditions.

hypoxic


Input: Two new gastric cancer molecular markers (tie-1 and mkk4) have been identified through the use of these profiles and demonstrated effective as clinical prognostic indicators.

gastric cancer


Input: Defects in the photoreceptor-specific gene aryl hydrocarbon receptor interacting protein-like 1 (Aipl1) are associated with Leber congenital amaurosis (LCA), a childhood blinding disease with early-onset retinal degeneration and vision loss.

retinal degeneration


Input: In 40 patients, biopsy specimens were taken from the left ventricle area of presumed ischemia for p50, p65 and IкBα quantification.

ischemia


Input: We report that biallelic mutations in TBCD, encoding one of the five co-chaperones required for assembly and disassembly of the & #945; & #946;-tubulin heterodimer, the structural unit of microtubules, cause a disease with neurodevelopmental and neurodegenerative features characterized by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin corpus callosum, developmental delay, intellectual disability, seizures, optic atrophy, and spastic quadriplegia.

TBCD

intellectual disability

TBCD

intellectual disability


Input: Anyhow, if there is an influence of genetic variation in DGAT2 on body weight regulation, it might either be conferred by the less common variants (MAF < 0. 1) or the detected, rare non-synonymous variants.

MAF

body weight


Input: Two genomewide association studies of predominantly sporadic but also familial cases of TGCT have implicated the KIT-ligand, SPRY4, and BAK1 genes as TGCT risk modifiers.

sporadic


Input: Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.

depression

depression


Input: We show that miR-17-5p is an oncogenic miRNA that regulates tumorigenesis and progression by targeting the gene encoding P130 and subsequently activating the Wnt/β-catenin pathway.

tumorigenesis


Input: In this study, we measured the mRNA levels of VLDLR and ApoER2 in blood lymphocytes from patients with schizophrenia (drug-naive patients (n = 20) and medicated patients (n = 20)) and age-and gender-matched healthy controls (n = 40) using quantitative real-time RT-PCR.

schizophrenia

schizophrenia


Input: Association of the R67X and W303X non-sense polymorphisms in the protein Z-dependent protease inhibitor gene with idiopathic recurrent miscarriage.

protein Z

recurrent miscarriage


Input: In the present study, we have identified a large number of mutations in SLC17A5 in patients presenting with either Salla disease or the ISSD phenotype.

Salla disease

Salla disease


Input: In accordance with these results, PON1 (0) mice MPM exhibited 130% increased translocation of the cytosolic p47phox component of NADPH-oxidase to the macrophage plasma membrane, suggesting increased activation of macrophage NADPH-oxidase in PON1 (0) mice, compared to control mice MPM.

translocation


Input: These phenomena coordinately trigger a TLX1-driven pre-leukemic phenotype in human thymic precursor cells, reminiscent of the thymus regression observed in murine TLX1 tumor models, and create a strong genetic pressure for acquiring activating NOTCH1 mutations as a prerequisite for full leukemic transformation.

regression


Input: Also discussed is the metabolic role of GNMT; several additional metabolite abnormalities found in these patients; and remaining questions about human GNMT deficiency, such as the long-term prognosis, whether other individuals with this defect are currently going undetected, and means to search for such persons.

GNMT

GNMT deficiency

GNMT

GNMT deficiency


Input: Delineation of the translocation breakpoints showed that the ERBB2IP (erbb2 interacting protein or Erbin) gene is disrupted in 5q13. 1 and GPC6 in 13q32.

Erbin

translocation


Input: A T & gt; C transition causing a Leu & gt; Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.

arylsulfatase A

metachromatic leukodystrophy

arylsulfatase A

metachromatic leukodystrophy


Input: The aim of the present study was to evaluate the association of apolipoprotein A-IV (APOA4) polymorphisms with coronary artery calcification (CAC) progression, a marker of subclinical atherosclerosis.

CAC

coronary artery calcification


Input: TrkC expression was correlated with clinical stage, lymph node metastasis, MVD, LVD, and poor prognosis.

TrkC

lymph node metastasis


Input: We show that the SBK1 is expressed in most of the cells and tissues examined, and the protein is highly up-regulated in ovarian serous adenocarcinoma while down-regulated in esophagus squamous cell carcinoma and stomach adenocarcinoma.

ovarian serous adenocarcinoma


Input: FOXE3 is a lens-specific transcription factor with a highly conserved forkhead domain previously implicated in congenital primary aphakia and anterior segment dysgenesis.

congenital primary aphakia

congenital primary aphakia


Input: We used the hemagglutinating virus of Japan-liposome complex to transfect human angiotensin-converting enzyme (ACE) cDNA, driven by the cytomegalovirus enhancer and beta-actin promoter, into the lateral cerebroventricle of male Sprague-Dawley rats.

ACE

cytomegalovirus


Input: We find that, as in humans, combination antiretroviral therapy (ART) in humanized (hu-) Rag2 (-/-) gamma (c) (-/-) mice allows suppression of viremia below the limits of detection and recovery of CD4 (+) cells, while interruption of ART results in viral rebound and renewed loss of CD4 (+) T cells.

viremia


Input: The natural dietary compound pterostilbene has an anti-proliferative effect and induces apoptosis in breast cancer cells in & #160; vitro via Bax activation and overexpression, resulting in increased MnSOD, Smac/DIABLO, and cytochrome C activity and cytosolic Ca (2 +) overload.

Bax

breast cancer

Bax

breast cancer


Input: The tyrosine kinase receptor EphB4 interacts with its ephrinB2 ligand to act as a bidirectional signaling system that mediates adhesion, migration, and guidance by controlling attractive and repulsive activities.

adhesion


Input: This study assessed the relationship between changes in CD4 T-cell count, HIV Viral Load (VL) level and evolutionary patterns in Antiretroviral (ARV) resistance mutations of circulating HIV in those with persistent viraemia despite treatment.

viraemia


Input: Engulfment and cell motility 1 presents with synergetic action in helping Dock180 to activate Rac1 and promote cell motility, and thus promote untoward expansion and aggressiveness of SOC.

SOC

aggressiveness


Input: A suspicion of malignancy is critical to determine the workup and surgical approach in adrenal (A-PGL) and extra-adrenal (E-PGL) paragangliomas (PGLs).

PGLs

malignancy


Input: This is the first evidence that human cancer cells differentially express CTGF protein and mRNA under the control of hypoxic conditions.

CTGF

hypoxic


Input: Expression of the Ca2 +-selective cation channel TRPV6 in human prostate cancer: a novel prognostic marker for tumor progression.

prostate cancer


Input: We tested 140 healthy individuals for factor V (FV) 1691G/A, FV4070G/A, FII 20210G/A, factor XIII (FXIII) exon 2G/T, fibrinogen beta-455G/A, plasminogen activator inhibitor-1 (PAI-1)-675 4G/5G, human platelet antigens 1 (HPA1) a/b, apolipoprotein B (ApoB) 10708 G/A, apolipoprotein E (ApoE) E2, E3, and E4, angiotensin-converting enzyme (ACE) D/I, 5, 10 methylenetetrahydrofolate reductase (MTHFR) 677C/T, and MTHFR 1298A/C polymorphisms using a PCR and reverse hybridization technique that detects all of them simultaneously.

apolipoprotein E

fibrinogen


Input: Interferon gamma (IFN-γ) expression in monocytes correlated negatively with brachial artery flow-mediated dilatation also in the Leu7Pro7 group (p = 0. 037).

Interferon gamma

dilatation


Input: In order to clarify the meaning of decreased expression of HBB in ATC, the expression status of HBB was investigated with ACL, ATC, papillary thyroid cancer (PTC) and normal human tissues.

ACL

papillary thyroid cancer


Input: This study failed to show any role of the p53 polymorphism on age of colorectal cancer onset in Lynch syndrome and sporadic colorectal cancer.

sporadic


Input: Studies at the protein level, allowed through E. coli expression of wildtype and L68Q mutated cystatin C genes, revealed that both protein variants effectively inhibit the cysteine proteinase cathepsin B (equilibrium constants for dissociation: 0. 4 and 0. 3 nM, respectively), but differ considerably in their tendency to dimerize and form aggregates.

cathepsin B

dissociation


Input: However, the role of IRF2 in hepatic injury during hypoxic or inflammatory conditions is unknown.

hypoxic


Input: Additional inactivation of Cx30. 2, a subunit for gap junctions with low conductance expressed in the atrioventricular canal and unaffected by the loss of Tbx2, did not affect the functionality of the accessory pathways.

Cx30. 2

atrioventricular canal


Input: We investigated a C to T transition at base pair 2149 in the amyloid precursor protein gene in 41 Japanese cases of early-onset familial Alzheimer' s disease (FAD), late-onset FAD and sporadic Alzheimer' s disease (AD) by polymerase chain reaction and restriction enzyme polymorphism with BclI.

FAD

sporadic


Input: Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome.

congenital central hypoventilation syndrome

congenital central hypoventilation syndrome


Input: BRAF-V600E mutations were analysed by automatic sequencing in colorectal cancers from 206 sporadic cases with MSI-H and 111 HNPCC cases with known germline mutations in MLH1 and MSH2.

sporadic


Input: This dissociation is completely sensitive to rapamycin (an mTOR inhibitor) but not wortmannin (a phosphoinositide 3-kinase [PI3K] inhibitor).

dissociation


Input: Chest pain after intravenous corticotropin-releasing hormone.

corticotropin-releasing hormone

Chest pain

corticotropin-releasing hormone

Chest pain


Input: These results indicate that estrogen but not progestin modulates HER-2/neu protooncogene expression in these breast cancer cell lines and suggest that aggressiveness associated with high levels of HER-2/neu mRNA and protein may be uncoupled from estrogen-stimulated proliferation in these cells.

aggressiveness


Input: We propose and test a specific mechanism of neoplastic transformation, and genetic resistance, involving the MDV oncogene Meq, host gene products of the Nuclear Factor Kappa B (NF-κB) family and CD30; we also identify a novel Meq protein interactome.

neoplastic transformation


Input: Primary end points were flow-mediated dilation and high-sensitivity C-reactive protein (hs-CRP) levels; secondary end points were lipid and glucose parameters, homeostasis model assessment (HOMA) of insulin sensitivity, endothelial function score, and circulating levels of interleukin (IL)-6, IL-18, and adiponectin.

CRP

insulin sensitivity


Input: In addition, we performed CNV analysis of individuals from 215 BD trios and identified de novo CNVs involving the NRXN1 and DRD5 genes.

BD

BD


Input: Analysis of DIXDC1 in over 9000 cases of autism, bipolar disorder and schizophrenia reveals higher rates of rare inherited sequence-disrupting single-nucleotide variants (SNVs) in these individuals compared with psychiatrically unaffected controls.

bipolar disorder

bipolar disorder


Input: CDK4, p27, and E2F-1 were positive in 60% (12 of 20), 25% (5 of 20), and 65% (13 of 20), respectively, in chondrosarcoma of the jaws.

chondrosarcoma


Input: The homozygous Prkcqrpea1 and the null Prkcqtm1Litt mutants are reliable novel mouse models of RD and can also be used to study the effects of the disruption of PRKCQ (PKC & #952;) signaling in RPE cells.

PRKCQ

RD

PRKCQ

RD


Input: Outcome in untransplanted DOCK8 deficient patients is poor because of frequent life-threatening infections, CNS bleeding and infarction, and increased susceptibility to malignancy.

infarction


Input: McKusick-Kaufman syndrome (MKKS, MIM 236700) is a human developmental anomaly syndrome comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP) and congenital heart disease (CHD).

MKKS

McKusick-Kaufman syndrome

MKKS

McKusick-Kaufman syndrome


Input: We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations.

sporadic


Input: Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.

leukoencephalopathy with vanishing white matter

leukoencephalopathy with vanishing white matter


Input: In this study, we analysed mutations in the NCCT gene of seven Japanese patients with GS.

NCCT

GS

NCCT

GS


Input: PTHR1 mutations associated with Ollier disease result in receptor loss of function.

Ollier disease

Ollier disease


Input: Moreover, in 8 families with a homozygous mutation in an arthrogryposis-associated gene, we identified a second locus with either a homozygous or compound heterozygous variant in a candidate gene (myosin binding protein C, fast type [MYBPC2] and vacuolar protein sorting 8 [VPS8], 2 families, 4. 2%) or in another disease-associated genes (6 families, 12. 5%), indicating a potential mutational burden contributing to disease expression.

arthrogryposis

arthrogryposis


Input: Eight network 2 genes (KIAA0101, HDAC2, SUMO1, RBBP4, NONO, RBBP7, HTRA2, and MTA2) were significantly differentially expressed in an array of 18 different sarcoma types.

sarcoma


Input: All patients with classic Hallervorden-Spatz syndrome and one third of those with atypical disease had PANK2 mutations.

Hallervorden-Spatz syndrome

Hallervorden-Spatz syndrome


Input: Rap1GAP is thought of as a putative tumor suppressor gene and plays an important role in human tumor progression including pancreatic cancer, thyroid cancer and melanoma.

melanoma

melanoma


Input: The NUP98-NSD1 fusion, product of the t (5; 11) (q35; p15. 5) chromosomal translocation, is one of the most prevalent genetic alterations in cytogenetically normal pediatric acute myeloid leukemias and is associated with poor prognosis.

chromosomal translocation


Input: To determine whether mutations occur in the putative NBF of ALD protein, we analyzed by denaturing gradient gel electrophoresis (DGGE) exon 6 and 8 that encode most part of this domain in 50 ALD patients.

ALD

ALD

ALD

ALD


Input: Blot rolling assays and flow-based adhesion assays using microbeads coated with CEA immunopurified from LS174T colon carcinoma cells and selectins as substrate reveal that CEA possesses E-and L-, but not P-, selectin ligand activity.

CEA

adhesion


Input: In conclusion, results from this study suggest that impaired hepatic proteasome function by alcohol exposure may contribute to hepatic accumulation of RIP3 resulting in necroptosis and steatosis while RIP1 kinase activity is important for alcohol-induced inflammation.

steatosis

steatosis


Input: Six microRNAs (miR-9, miR-145, miR-150, miR-155, miR-203, and miR-205) were evaluated using real-time PCR in 11 patients with metastatic melanoma and in 16 patients without melanoma.

metastatic melanoma


Input: Relative to carriers of the wild type (Gly/Gly) ADD1 gene, patients carrying the mutated Trp ADD1 allele had higher blood pressure (systolic blood pressure (SBP) 143. 2 +/-1. 0 versus 140. 6 +/-0. 6 mmHg P = 0. 027 and diastolic blood pressure (DBP) 94. 2 +/-0. 77 versus 92. 3 +/-0. 5 mmHg, P = 0. 03), lower PRA and EO, consistent with the hypothesis of the renal sodium retaining effect of the Trp allele.

DBP

systolic blood pressure


Input: We measured hcrtR1 and hcrtR2 expression in the frontal cortex and pons using the RT-PCR method in murine models (8-week-old and 27-week-old orexin/ataxin-3 transgenic (TG) hypocretin cell ablated mice and wild-type mice from the same litter, 10 mice for each group), in canine models (8 genetically narcoleptic Dobermans with null mutations in the hcrtR2, 9 control Dobermans, 3 sporadic ligand-deficient narcoleptics, and 4 small breed controls), and in humans (5 narcolepsy-cataplexy patients with hypocretin deficiency (average age 77. 0 years) and 5 control subjects (72. 6 years).

sporadic


Input: Studies in two related patients with a partial trisomy 18p revealed three copies of the PACAP gene and elevated PACAP concentrations in plasma.

PACAP

partial trisomy


Input: Methylation of sFRP1, 2, 5 and WIF-1 genes might serve as biomarkers for the early detection of colorectal tumor.

colorectal tumor

colorectal tumor


Input: TTP is either inherited (Upshaw-Schulman syndrome) via ADAMTS13 gene mutations (neonatal onset) or acquired via anti-ADAMTS13 autoantibodies (childhood onset).

neonatal onset


Input: By using a rat model of bone cancer pain based on intratibial injection of MRMT-1 tumour cells, we documented a prominent decrease in expression of KCNQ2 and KCNQ3 proteins and a reduction of M-current density in small-sized dorsal root ganglia (DRG) neurons, which were associated with enhanced excitability of these DRG neurons and the hyperalgesic behaviours in bone cancer rats.

DRG

cancer pain


Input: On the other hand, polymorphisms in XRCC1 codon 399 and codon 194 do not seem to play a role in the aetiology of smoking-related laryngeal SCC, once its distribution was similar in both analysed groups.

smoking


Input: Genetic variation at the MGP locus could modulate the development of coronary artery calcification (CAC).

CAC

coronary artery calcification


Input: Analysis of somatic cell hybrids segregating the translocation chromosomes showed that the chromosome 11 breakpoint occurs within NUP98.

translocation


Input: All these data indicate that ERBB2 is a marker of aggressiveness of the tumour.

aggressiveness


Input: We hypothesized that airway epithelial cell ingestion of bacteria followed by cellular desquamation may protect the lung from infection, and epithelial cells expressing mutant forms of the cystic fibrosis transmembrane conductance regulator (CFTR) may be defective in this function.

CFTR

desquamation


Input: There was no relationship between p16 (INK4a) overexpression and inflammation or hormonal status.

inflammation


Input: CD4 + and CD8 + clonal T cell expansions indicate a role of antigens in ankylosing spondylitis; a study in HLA-B27 + monozygotic twins.

ankylosing spondylitis


Input: Through family studies and analysis of patients with congenital chromosome abnormalities, the germ-line mutation responsible for the hereditary form of the eye tumour, retinoblastoma, has been assigned to the q14 region on chromosome 13 and closely linked to an enzyme called esterase D (ESD).

ESD

chromosome abnormalities


Input: Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF.

breast cancer

breast cancer


Input: Tyrosine phosphorylation of paxillin, a biochemical marker of focal contact formation, was conserved upon serum starvation when MARCKS was overexpressed, while it was almost abolished in the control cells.

MARCKS

starvation


Input: Fgf8 (fibroblast growth factor 8) was initially cloned from a mouse mammary tumor cell line derived from the androgen-dependent Shionogi carcinoma 115.

fibroblast growth factor 8

mammary tumor


Input: By performing tests according to the Fisher product method (FPM), an association between HTR2A and the personality trait reward dependence could be shown.

personality trait


Input: These data suggest that a disproportionate increase in CTGF relative to BNP in cardiac myocytes plays a central role in the induction of excessive myocardial fibrosis and diastolic heart failure.

CTGF

myocardial fibrosis


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

inflammation

inflammation


Input: In a screen of a large series of early colorectal adenomas, a precocious step during colorectal tumorigenesis, we identified 11 mutations in SMC1A core cohesin subunit.

tumorigenesis


Input: MPS IIID is caused by a deficiency of N-acetylglucosamine-6-sulphate sulphatase (GNS), one of the enzymes required for the degradation of heparan sulphate.

GNS

MPS IIID

GNS

MPS IIID


Input: Transient overexpression of p65 subunit of NF-kappaB in PC-3 cells up-regulated CXCR4 receptor expression and increased the adhesion and TEM of these cells in response to SDF-1alpha gradient.

NF-kappaB

adhesion


Input: Ten mutations in the guanylate cyclase activator 1A (GUCA1A) have been previously identified and reported in patients with retinal degeneration, including patients from 12 families with cone-rod dystrophy (CORD) and in an isolated patient with retinitis pigmentosa (RP).

retinal degeneration


Input: We illustrate this method with three breast cancer susceptibility genotypes: population screening data evaluating the 185delAG mutation at BRCA1 and the 6174delT mutation at BRCA2 in a Ashkenazi Jewish population, and case control data for the slow acetylation genotype at the N-acetyl transferase 2 (NAT2) gene in combination with smoking.

smoking


Input: In line with TERT expression being driven by active IRX2 regulatory elements, we found a high expression of IRX2 in CCSKs irrespective of fusion gene status.

TERT

CCSK

TERT

CCSK


Input: Thus, TMEM106B is an FTLD-TDP risk gene, with microRNA-132/212 depression as an event which can lead to aberrant overexpression of TMEM106B, which in turn alters progranulin pathways.

progranulin

depression

progranulin

depression


Input: Some brain regions of the Polish FAD patients showed a massive increase of amyloid, such as the molecular layer of the cerebellum where a 7-and 25-fold increase was noted, compared with DS and sporadic AD patients respectively.

FAD

sporadic


Input: Defective aldosterone receptor binding is present in pseudohypoaldosteronism, and sporadic as well as familial cases have been reported.

aldosterone receptor

sporadic


Input: Prompted by the observation of higher expression of Rac1b, an alternatively spliced Rac1 isoform, in pancreatic ductal epithelial cells and in patients with chronic pancreatitis vs. PDAC, as well as in long-time vs. short-time survivors among PDAC patients, we asked whether Rac1b might negatively affect TGF-β1 prometastatic function.

chronic pancreatitis


Input: However, rats with chronic progressive nephropathy showed augmented renal content of angiotensinogen protein (13. 5 +/-3. 5 versus 2. 2 +/-0. 4 pixels in control rats; P & lt; 0. 05), enhanced expression of cathepsin D-a renin-like enzyme-in cortical collecting tubules (103. 5 +/-27. 0 versus 66. 2 +/-3. 6 cells/mm2 in controls; P & lt; 0. 01), and increased expression of AT1 receptor in interstitium (54. 7 +/-7. 8 versus 1. 3 +/-0. 4 cells/mm2 in controls; P & lt; 0. 001).

cathepsin D

nephropathy

cathepsin D

nephropathy


Input: GAS impetigo may cause acute glomerulonephritis, but such infections do not result in ARF.

ARF

acute glomerulonephritis


Input: The protein expression of HA-Cyclin D1 were all reduced three days after infection by adding adenovirus expressing human Slug to PC-3 carrying pMIGW-Cyclin D1-HA vector compared to negative control, which is dose-dependent.

adenovirus


Input: Local expression of TNF-alpha (Th1) and IL-4 (Th2) in wart tissue was determined using in-situ hybridization technique.

TNF-alpha

wart


Input: In endometrial complex, hyperplasia, and endometrioid adenocarcinoma, neoplastic proliferations associated with estrogen excess, the expression of EIG121 was significantly elevated (on average 3. 8-fold in hyperplasias and 21-fold in grade 1 tumors).

hyperplasia


Input: To test whether loss of Cav1 accelerates tumorigenesis, we generated a novel mouse model of CRC by crossing C57BL/6 Apc (min/+) with B6129 Cav1 knockout (Cav1-/-) mice.

tumorigenesis


Input: LST1 and NCR3 expression in autoimmune inflammation and in response to IFN-gamma, LPS and microbial infection.

inflammation


Input: SSeCKS is down-regulated in many tumor types including prostate, and when re-expressed in MAT-LyLu (MLL) prostate cancer cells, SSeCKS selectively inhibits metastasis by suppressing neovascularization at distal sites, correlating with its ability to down-regulate proangiogenic genes including Vegfa.

SSeCKS

neovascularization


Input: Hypomyelination and congenital cataract (HCC), one of these disorders, is caused by mutations in FAM126A, a gene of unknown function.

Hypomyelination and congenital cataract

Hypomyelination and congenital cataract


Input: At the same time, we also examined the effect of hypoxia and reoxygenation on APP mRNA and protein levels.

APP

hypoxia


Input: The molecular characteristics of HERV-W env also differ from what was observed in Multiple Sclerosis (MS) and may represent distinct features of the genome of patients with BD and SZ.

HERV-W env

BD

HERV-W env

BD


Input: Reduced NIS gene expression in thyroid cancer is likely due in part, to impaired trans-activation at the proximal promoter and/or the upstream enhancer.

NIS

thyroid cancer

NIS

thyroid cancer


Input: We determined the function of Nox4 in situations of increased stress induced by ischemia or angiotensin II with global and tamoxifen-inducible Nox4 (-/-) mice.

ischemia


Input: Co-culture of allogeneic CD4 + T cells with OX40L-transduced leukaemia-DCs was superior in the generation of interferon (IFN)-gamma producing CD4 + T cells and in production of IFN-gamma.

leukaemia


Input: We report for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an inflammatory nevus with striking lateralization and strict midline demarcation, as well as ipsilateral hypoplasia of the body is caused by mutations in the gene NSDHL located at Xq28 (NAD (P) H steroid dehydrogenase-like protein) encoding a 3beta-hydroxysteroid dehydrogenase functioning in the cholesterol biosynthetic pathway.

MIM

nevus


Input: The incidence of IDC-P was significantly increased in BRCA2 carriers (42%, n = 33, p = 0. 004) but not in BRCAX patients (25. 8%, n = 62, p = 0. 102) when both groups were compared with sporadic cases (9%, n = 32).

sporadic


Input: This is the first report linking xanthurenic aciduria to a mutation in the gene encoding kynureninase.

kynureninase

xanthurenic aciduria

kynureninase

xanthurenic aciduria


Input: The development of DNA-based methods for detection of unknown mutations and further characterization of ATM mutation pattern will facilitate identification of A-T carriers and assessment of their cancer risk.

ATM

A-T

ATM

A-T


Input: Fanconi anemia (FA) is an autosomal recessive chromosomal instability disorder caused by mutations in one of seven known genes (FANCA, C, D2, E, F, G and BRCA2).

chromosomal instability


Input: These results suggest that the up-regulation of STC2 gene expression resulting from abnormal α-klotho-Fgf23 signaling may contribute to limitation of ectopic calcification and thus STC2 represents a novel target gene for cardio-renal syndrome.

ectopic calcification


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

channelopathies


Input: Cytokines participate in the development and progression of silicosis and PTB.

PTB

silicosis


Input: Here we evaluated the expression of the inducible co-stimulator (ICOS) on lung and blood CD4 (+) T cell subsets in sarcoidosis patients with different prognosis, by flow cytometry.

sarcoidosis


Input: GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

acid beta-galactosidase

Morquio B disease

acid beta-galactosidase

Morquio B disease


Input: MATERIALS AND METHODS: Four groups were studied, which included 157 patients with HCC, 73 with liver cirrhosis (LC) and 97 with chronic hepatitis (CH), along with 80 healthy subjects.

HCC

chronic hepatitis


Input: In conclusion, we have identified elevated expression of messenger ribonucleic acid encoding RANTES and monocyte chemotactic protein-3 in the bronchial mucosa of atopic asthmatic patients relative to controls.

RANTES

atopic


Input: We propose that increasing the activation of the cyclic AMP (cAMP)/protein kinase A signaling pathway will inhibit transforming growth factor-beta1 (TGF-β1)-induced ECM synthesis and myofibroblast formation and may provide a means to blunt fibrosis.

ECM

fibrosis


Input: BVVL and FL are severe progressive diseases with overlapping symptoms although only hRFT2 mutated patients manifest deafness.

deafness


Input: The aim of our study was to evaluate the influence of ischemic preconditioning on pancreatic regeneration and pancreatic presence of platelet-derived growth factor-A (PDGF-A) and vascular endothelial growth factor (VEGF) in the course of ischemia/reperfusion-induced pancreatitis.

PDGF-A

ischemia


Input: To understand the molecular pathogenesis of colitis-associated colorectal neoplasia (UC-CRN), we studied the frequency of microsatellite instability (MSI) and mutations in p53, BRAF and KRAS genes in the tissues of patients with long standing UC with or without neoplasia and compared them with colitis patients without risk of neoplasia, and those with sporadic colorectal neoplasia (S-CRN) in an area with lower prevalence for either disease.

sporadic


Input: This study demonstrates for the first time that genetic variations in Na +, K +-ATPase are associated with BD, suggesting a role of this enzyme in the etiology of this disease.

ATPase

BD

ATPase

BD


Input: The extent of hyperalgesia was greater in KO versus WT mice, suggesting a role of CRF1 receptors in the upward modulation of endogenous opioid release.

hyperalgesia

hyperalgesia


Input: The present study demonstrated that manifestation and disappearance of depression-like behavior are in parallel with increase and decrease in cortical neuronal excitability in mice and suggested that regulation of BK channels by Homer1a is involved in this parallelism.

depression

depression


Input: Genetic polymorphism of the carcinogen metabolizing enzyme N-acetyl transferase 2 (NAT2) may influence susceptibility to bladder cancers related to smoking or to occupational exposure to arylamine carcinogens.

smoking


Input: Herein, we studied 10 combined cutaneous squamous cell and neuroendocrine carcinomas for immunohistochemical expression of p53, retinoblastoma 1 protein, neurofilament, p63, and cytokeratin 20 (CK20).

retinoblastoma


Input: Tumors samples were analyzed for methylation in LINE-1 and 16 CpG islands (CACNA1G, CDKN2A [p16], CRABP1, IGF2, MLH1, NEUROG1, RUNX3, SOCS1, CHFR, HIC1, IGFBP3, MGMT, MINT1, MINT31, p14 [ARF], and WRN); microsatellite instability (MSI); the CpG island methylator phenotype (CIMP); 18q loss of heterozygosity; KRAS, BRAF, and PIK3CA mutations; and expression of beta-catenin, p53, p21, p27, cyclin D1, fatty acid synthase, and cyclooxygenase-2.

microsatellite instability


Input: These findings suggest loss of function of IL36RN as the genetic basis of GPP and implicate innate immune dysregulation in this severe episodic inflammatory disease, thereby highlighting IL-1 signaling as a potential target for therapeutic intervention.

GPP

GPP


Input: Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma.

keratin 9

epidermolytic palmoplantar keratoderma

keratin 9

epidermolytic palmoplantar keratoderma


Input: This study was carried out 1. to set up a method to examine the relative quantity of mRNA of CL-R, RAMP1, RAMP2 and RAMP3 in human coronary (CA), pulmonary (PA) and middle cerebral arteries (MCA), and 2. to examine the level of mRNA expression in cerebra-and cardiovascular diseases.

cardiovascular diseases


Input: MCIDAS mutant respiratory epithelial cells carry only one or two cilia per cell, which lack ciliary motility-related proteins (DNAH5; CCDC39) as seen in primary ciliary dyskinesia.

MCIDAS

primary ciliary dyskinesia

MCIDAS

primary ciliary dyskinesia


Input: The present study examined the prodynorphin and kappa opioid receptor mRNA expression levels in the anterior cingulate and dorsolateral prefrontal cortices of subjects diagnosed with schizophrenia, bipolar disorder, or major depression as compared with normal controls without a psychiatric diagnosis.

prodynorphin

major depression

prodynorphin

major depression


Input: Taken together, our results suggest that knockdown of AEG-1 could decrease EMT and chemoresistance in cervical cancer cells and attenuate their aggressive behavior.

aggressive behavior


Input: In the present study, we report the application of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis to the screening of seven functionally important factor IX gene (FIX) regions (total length 2. 66 kb) in 9 unrelated haemophilia B patients of Portuguese or African origin.

factor IX

haemophilia B

factor IX

haemophilia B


Input: Thus, (1) IGF-1 enhances recovery from nephrotoxic ARF both functionally and histologically; (2) in nephrotoxic ARF, there is (a) a reduction in IGF-1 mRNA expression that is not prevented by IGF-1 infusion, and (b) an increase in renal IGFBP-1 mRNA.

ARF

ARF


Input: We report the genomic organization of ATP8B1 and mutation analyses of 180 families with PFIC or BRIC that identified 54 distinct disease mutations, including 10 mutations predicted to disrupt splicing, 6 nonsense mutations, 11 small insertion or deletion mutations predicted to induce frameshifts, 1 large genomic deletion, 2 small inframe deletions, and 24 missense mutations.

PFIC

PFIC


Input: The first sign of retinal degeneration was detected at the electron microscopic level around 3 weeks of age when occasional small lipid-like droplets were detected in the retinal pigment epithelium (RPE).

RPE

retinal degeneration


Input: Furthermore, we found that treatment of human brain endothelial cells with MIF had no effect on human monocyte adhesion to endothelium.

MIF

adhesion


Input: A 773-bp fragment of the 6-Kbp DNA segment increased downstream gene expression eightfold, suggesting that triplication of this sequence may lead to dysregulation of the downstream gene, MMP19, in CODA patients.

CODA

CODA


Input: They demonstrate that MTP is a target of the transcription factor FoxO1 and that excessive VLDL production associated with insulin resistance is caused by the inability of insulin to regulate FoxO1 transcriptional activation of MTP.

MTP

insulin resistance


Input: Human immunodeficiency virus-infected macaques exhibited plasma viremia (≥ 10 (8) copies/ml) followed by a precipitous CD4 (+) T-cell (from 40-70 to ≤ 5%) decline.

viremia


Input: Thus, both increased wild-type ATAXIN1 levels and PUM1 haploinsufficiency could contribute to human neurodegeneration.

neurodegeneration


Input: Since approximately 20% of Caucasian patients with HNF-1alpha mutations have been shown to be obese or overweight, we also examined the association of genetic variations in TCF1 with body weight in Japanese subjects.

body weight


Input: Immunoblotting confirmed HIF-1α, Ets-1, VEGF and MMP-2 are up-regulated in HASMC exposed to hypoxia (p < 0. 05), while transcription for MMP-1, MT-MMP-1, MMP-9, MMP-2 and MMP-7 (p < 0. 05) increased in hypoxic HASMCs.

hypoxic


Input: Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.

Marfan syndrome

Marfan syndrome


Input: We found that in hepatocellular carcinomas, in the late glycogen-poor passages (C1I (late)), and in the tumorigenic subline (C1Ict) of C1I cells, and in MH3924A cells the mRNA expression of inhibitor-1 is significantly increased.

hepatocellular carcinomas

hepatocellular carcinomas


Input: WISPs may play important but contrasting roles in colorectal cancer with WISP-1 appearing to act as a factor stimulating aggressiveness, WISP-2 as a tumour suppressor and WISP-3 having no definable beneficial or detrimental role.

aggressiveness


Input: Recently, we have demonstrated that the adenoviral vector is able to deliver the β-defensin 2 gene to the middle ear epithelial cells in vitro and in vivo, and adenovirus-mediated overexpression of β-defensin 2 is protective for experimental OM.

β-defensin 2

adenovirus


Input: Our findings suggest that APP/SOD1 overexpressing mice are less sensitive for neuropathic pain associated with neuroma.

APP

neuroma


Input: Recently mutations in a G protein-coupled receptor gene, P2RY5, located at LAH3 locus, have been reported in several families with autosomal recessive hypotrichosis simplex and woolly hair.

hypotrichosis simplex

hypotrichosis simplex


Input: Novel MRI techniques may aid in the in vivo assessment of acute plaque inflammation in humans.

MRI

inflammation


Input: In vitro, periostin increased proliferation, adhesion, migration, and collagen production in RPE cells through integrin αV-mediated FAK and AKT phosphorylation.

RPE

adhesion


Input: A significant association was found between MPL-mutant allele burden greater than 50% and marrow fibrosis.

MPL

fibrosis


Input: DNA double-strand break (DSB) induction and its repair kinetics in lymphocytes of head-and-neck cancer patients undergoing chemoradiation therapy was analyzed by counting γ-H2AX foci, neutral comet assay, and a modified version of neutral filter elution assay.

neck cancer


Input: We hypothesized that human airway smooth muscle cells (HASMCs) participate in linking inflammation with remodeling and that associated genes become differentially suppressed by ambrisentan (A-receptor selective ETRA) and bosentan (nonselective/dual ETRA).

ETRA

inflammation


Input: Expression of CD1 molecules has been observed on endoneurial machrophages in patients with chronic inflammatory demyelinating polyneuropathy (CIDP) and vasculitis and polymorphisms of CID1A and CD1E genes have been associated with susceptibility to develop Guillain-Barré syndrome.

chronic inflammatory demyelinating polyneuropathy


Input: During adenovirus infection, NHEJ is inhibited by viral proteins E4 34k and E1B 55k, which redirect the Cul5/Rbx1/Elongin BC ubiquitin E3 ligase to polyubiquitinate and promote degradation of ligase IV.

adenovirus infection


Input: We assessed alcohol intake using self-reported drink-units/day and conventional alcohol abuse biomarkers (serum γ-glutamyltrasferase [GGT] and mean corpuscular volume of erythrocytes [MCV]).

GGT

alcohol intake


Input: Severe fibrotic liver tissues from patients had increased levels of phosphorylated PERK and reduced levels of HNRNPA1 in HSCs, compared with mild fibrotic liver tissues.

PERK

mild


Input: This hypothesis may explain why psoriasin expression is highest in high-grade and/or estrogen receptor-negative tumors, as these are associated with increased hypoxia and ROS, a setting in which the angiogenic effects of psoriasin are most important.

psoriasin

hypoxia


Input: We found no association between E-selectin or P-selectin polymorphisms and premature birth, nor did we find any association between E-selectin or P-selectin and early postnatal sepsis or bronchopulmonary dysplasia.

E-selectin

premature birth


Input: Combining evidence from the case-control study, the follow-up in families, and gene expression provided strongest support for the association of a cluster of genes on chromosome 11 (SLC22A18, PHLDA2, NAP1L4, SNORA54, CARS, and OSBPL5) with alcohol dependence.

alcohol dependence

alcohol dependence


Input: Rescuing nerve injury-induced reduction of Kv1. 2 in the injured L5 DRG attenuated the development and maintenance of SNL-induced pain hypersensitivity without affecting acute pain and locomotor function.

SNL

hypersensitivity


Input: The data indicate that CIN genomes harbor unfixed mutations in addition to human papilloma virus infection but require additional driver hits such as PIK3CA, TP53, STK11 and MAPK1 mutations for CSCC progression.

human papilloma virus infection


Input: The position of the chromosome translocation breakpoints are shown to be restricted to introns 7-10 of the EWS gene and widely dispersed within introns 3-9 of the Ets-related genes.

EWS gene

chromosome translocation


Input: Six cases came from families with linkage to HPC-1, 3 were known to have linkage to Xq27-28, and 4 had no linkage to a known locus; 7 cases were analyzed from patients who showed no known linkage (sporadic tumors) as controls.

sporadic


Input: The phosphatidylinositol 3-kinase delta (PI3-K delta), a member of the PI3K class IA family, has been implicated in the regulation of inflammation since it is predominantly expressed in leukocytes.

inflammation


Input: The current study is focused on the antitumor effect of TSLC1-armed survivin-regulated oncolytic adenovirus for HCC and to explore their molecular mechanism.

HCC

adenovirus


Input: Elevated levels of CRP are produced in response to inflammatory cytokines and are associated with atherosclerosis, hypertension, cardiovascular disease and insulin resistance.

CRP

insulin resistance


Input: Egr-1-deficient mice accumulated lower levels of phosphacan RNA and protein than wild-type mice after stroke, but there were no measurable differences in neurite outgrowth toward the infarct area between the two groups.

phosphacan

infarct


Input: The majority of sporadic cancers exhibit loss of p53 activity due to mutations or deletions of TP53, and alterations in its signaling pathway.

sporadic


Input: After studying ten unrelated acrodysostosis cases, we report here de novo PRKAR1A mutations in five out of the ten individuals (we found c. 1102C & gt; T [p. Arg368 (& #8727;)] in four of the ten and c. 1117T & gt; C [p. Tyr373His] in one of the ten).

acrodysostosis

acrodysostosis


Input: Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer.

keratin 9

Epidermolytic palmoplantar keratoderma

keratin 9

Epidermolytic palmoplantar keratoderma


Input: Th2 cells produce cytokines (IL-4, IL-10 and IL-13) that are crucial for control of extracellular helminthic infections and promote atopic and allergic diseases.

atopic


Input: The underlying genetic abnormalities in familial combined hyperlipidemia (FCH) have not been elucidated, although previous association and linkage studies have implicated the apoA-I/C-III/A-IV gene cluster.

IV gene

familial combined hyperlipidemia


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

GITRL

tumorigenesis


Input: These results emphasize the necessity of considering the complete DNA sequencing of the SLC26A4 gene in molecular diagnosis of deafness, especially when phenotypes such as congenital, invariable, and progressive hearing loss with EVA are present.

EVA

deafness


Input: None of the tested DENND1A variants were associated with PCOS features (hirsutism, insulin sensitivity, menses pattern, free testosterone, and free androgen index).

insulin sensitivity


Input: We investigated the role of genetic variation in CD40 and CD40L genes in subclinical atherosclerosis assessed by coronary artery calcification (CAC) and carotid intima-media thickness in 620 individuals from 230 families in the DHS.

CAC

coronary artery calcification


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

depression

depression


Input: We searched in Pubmed and Embase for studies evaluating the association between the-159C/T gene polymorphism and tuberculosis risk.

T gene

tuberculosis


Input: Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia.

telangiectasia


Input: Tumor samples from 61 patients with pathologically confirmed epithelial ovarian adenocarcinoma with matched clinicopathologic features were studied, including 18 with BRCA1 founder mutations, 16 with BRCA2 founder mutations, and 27 without either founder mutation (termed sporadic cancers).

sporadic


Input: Nine genes were identified (false discovery rate < 0. 1) that were regulated by NME1 in both the WM1158 and WRO82 cell lines, each possessing one or more such metastasis-relevant activities as stress fiber formation and focal adhesion (PPM1E, ZYX, PFN1), chemotaxis (CCR1) epithelial-mesenchymal signaling (WNT6), differentiation and morphogenesis (TBX4, ZFP36L2), and G protein modulation (GPR52 and PFN1).

metastasis


Input: Interestingly, there was also complete loss of MSH2/MSH6 in a distinct focus of 20 colonic crypts that were morphologically non-neoplastic, thus supporting the possibility of biallelic loss of MMR before initiation of neoplasia.

MMR

non-neoplastic


Input: When compared to WRN-mutant WS, LMNA-mutant atypical WS patients appear to show earlier onset and possibly more severe ageing-related symptoms.

LMNA

ageing


Input: PDGFA was expressed within tumour cells in primary DSRT specimens, but it was absent in Wilms tumours expressing WT1 and Ewing sarcomas with an EWS-Fli translocation.

EWS

translocation


Input: AGAT enzyme activity was detectable in both human and rat myocardia and was elevated in heart failure.

AGAT

heart failure

AGAT

heart failure


Input: We investigated inhibitory and activation motif expression of killer immunoglobulin-like receptor (KIR) by natural killer (NK) cells, which may be pathogenetically involved in endometriosis.

KIR

endometriosis


Input: Multivariate logistic regression analysis showed HOMA-IR index and International Normalization Ratio independently associated with fibrosis in CHC; in HCC, HbA1c, cholesterol and bilirubin were independently associated with fibrosis.

HCC

fibrosis


Input: In summary, in vivo MT from melanoma patients contain public TRB as well as T cells with specificity for characterized melanoma antigens.

TRB

melanoma


Input: SET7 was required for GATA1-induced breast tumor angiogenesis and growth in nude mice.

tumor angiogenesis


Input: Annexin A11-positive protein aggregates were abundant in spinal cord motor neurons and hippocampal neuronal axons in an ALS patient carrying the p. D40G mutation.

Annexin A11

ALS

Annexin A11

ALS