Input: In late-onset bortezomib-induced peripheral neuropathy, the significant genes were SOD2 (upregulated by 1 & #183; 18 times; p = 9 & #183; 6 & #215; 10 (-3)) and MYO5A (1 & #183; 93 times; p = 3 & #183; 2 & #215; 10 (-2)), involved in development and function of the nervous system.

peripheral neuropathy

peripheral neuropathy


Input: ERCC1 and XPF expression in human testicular germ cell tumors.

germ cell tumors

germ cell tumors


Input: We investigated the expression and role of RSU-1 in two HCC cell lines that differ in aggressiveness; non-invasive Alexander cells and highly invasive HepG2 cells.

HCC

aggressiveness


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

TGT

sporadic


Input: Partial defects of COX have been shown in muscle of patients with progressive external ophthalmoplegia, either alone (ocular myopathy) or as part of Kearns-Sayre syndrome.

COX

progressive external ophthalmoplegia


Input: Surprisingly, Txnip-KO hearts had greater recovery of cardiac function after an ischemia-reperfusion insult.

Txnip

ischemia


Input: This study investigates a possible association between previously identified polymorphisms within the TAP-1 and LT-alpha genes and clinically manifested atopic diseases in the Czech population.

TAP

atopic


Input: There were no significant differences in GSTM1, GSTM3 or GSTP1 genotype frequencies among patients, drinking and non-drinking controls from the three centres.

drinking


Input: Increased expression of CD54, CD18, MHC class II molecules, and proliferating cell nuclear antigen in acute puromycin aminonucleoside nephrosis.

nephrosis

nephrosis


Input: The strongest reduction in risk associated with SHBG rs6259 was found for lean (body mass index < 23) postmenopausal minor allele carriers (odds ratio = 0. 6, 95% confidence interval: 0. 5, 0. 8; P = 4. 6 × 10 (-4)).

SHBG

body mass index


Input: A novel role for Wnt/Ca2 + signaling in actin cytoskeleton remodeling and cell motility in prostate cancer.

prostate cancer


Input: In order to identify risk factors associated with IFG/IGT/T2DM, two logistic regression models were tested: a full model (FM) including age, sex, body mass index (BMI), systolic and diastolic blood pressure, smoking status, and the 38 SNPs; and a reduced model (RM), in which the SNPs were dropped, which allowed us to test the null-hypothesis that the markers are not associated with the risk of IFG/IGT/T2DM.

IFG

body mass index


Input: Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8.

heritable pulmonary arterial hypertension

heritable pulmonary arterial hypertension


Input: Thus, BRCA2 mutations probably contribute to gastrointestinal tumorigenesis other then colon cancer, and the surveillance scheme for mutation carriers should incorporate this information.

tumorigenesis


Input: Recurrent alterations at relapse included mutations in the putative CHD5 neuroblastoma tumor suppressor, chromosome 9p losses, DOCK8 mutations, inactivating mutations in PTPN14 and a relapse-specific activity pattern for the PTPN14 target YAP.

YAP

neuroblastoma

YAP

neuroblastoma


Input: Microtubule-associated protein 1B but not 1A was still present in parallel fibres in less mature folia at P30 in hypothyroid rats suggesting that the expression of these two microtubule-associated proteins is regulated separately.

hypothyroid


Input: HHcy caused increased aortic blood pressure and resistance, tachycardia, and increased wall thickness and ECM accumulation in aortic wall vs. control groups.

ECM

tachycardia


Input: However, COX-2 mRNA expression in nasal polyps from the AIAR group (0. 38 +/-0. 10) was markedly and significantly lower than in polyps from the ATAR group (2. 93 +/-0.

ATAR

polyps


Input: While HSP70-1 expression constantly increased (up to 4-fold) during reperfusion, even to a higher extent with prolongation of ischemia, HSP70-2 mRNA-which was generally expressed at a far lower level than HSP70-1 mRNA-was strongly induced (3-fold) during reperfusion only after brief periods (10 min) of ischemia.

ischemia


Input: Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

renin

renal tubular dysgenesis

renin

renal tubular dysgenesis


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

Bladder Cancer

Bladder Cancer


Input: Electronegative LDL has been shown to be highly enriched in Lp-PLA2; and in advanced atheroma, Lp-PLA2 levels are highly upregulated, colocalizing with macrophages in both the necrotic core and fibrous cap.

necrotic


Input: We hypothesized that treatment of endothelial nitric oxide synthase knockout mice (eNOS & #8315;/& #8315;) and catechol-O-methyltransferase knockout mice (COMT & #8315;/& #8315;) with resveratrol during pregnancy would improve uterine artery blood flow and therefore ameliorate the PE-like phenotype and FGR in these murine models.

endothelial nitric oxide synthase

FGR

endothelial nitric oxide synthase

FGR


Input: With HER4 knockdown, NBL cells became less resistant to anoikis and serum starvation.

starvation


Input: Genetic variation in the genes coding for these enzymes (SOD2, GPX1, and CAT, respectively) alters ROS production and therefore may provide a mechanism for the relationship between inflammation and NHL.

inflammation


Input: IS compared with IR obese individuals have significantly lower visceral fat area (138 +/-27 vs. 316 +/-91 cm (2)), number of macrophages in omental adipose tissue (4. 9 +/-0. 8 vs. 13. 2 +/-1. 4%), mean omental adipocyte size (528 +/-76 vs. 715 +/-81 pl), circulating C-reactive protein, progranulin, chemerin, and retinol-binding protein-4 (all P values < 0. 05), and higher serum adiponectin (6. 9 +/-3. 4 vs. 3. 4 +/-1. 7 ng/ml) and omental adipocyte insulin sensitivity (all P values < 0. 01).

C-reactive protein

insulin sensitivity


Input: Our observation further supports that the position of the mutation in the TBX5 gene is related to the phenotype expression of HOS.

HOS

HOS


Input: To better understand how ALCAM might regulate cancer cell behavior, we utilized a panel of defined uveal melanoma cell lines with high or low ALCAM levels, and directly tested the effects of manipulating these levels on cell motility, invasiveness, and adhesion using multiple assays.

ALCAM

adhesion


Input: Our results show that allelic imbalance occurs frequently in hepatitis-related HCC as well as in chronic hepatitis in patients without HCC.

HCC

chronic hepatitis


Input: Our integrated analysis of transcriptome and methylome revealed DNA hypomethylation in APA and identified several up-regulated genes with DNA hypomethylation that may be involved in aldosterone production and tumorigenesis.

APA

tumorigenesis


Input: Therapeutic potential of adenovirus-mediated delivery of β-defensin 2 for experimental otitis media.

β-defensin 2

adenovirus


Input: Chromosomal translocations, deletions, insertions, nonsense and splice-site mutations, as well as missense mutations of the RUNX2 gene have been described in CCD patients.

CCD

CCD


Input: The effects of flIL-33 on mouse lungs were assessed independently and in combination with bleomycin injury, using recombinant adenovirus-mediated gene delivery.

flIL

adenovirus


Input: We examined a morbidly obese male (BMI = 62 kg/m²) with a binge-eating disorder and eight family members for mutations in the MC4R gene and potential differences in leptin levels.

MC4R gene

binge-eating disorder


Input: Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Meier-Gorlin Syndrome

Meier-Gorlin Syndrome


Input: We show here that transient forebrain ischemia selectively elevates levels of neuronal apoptosis inhibitory protein (NAIP) in rat neurons that are resistant to the injurious effects of this treatment.

NAIP

ischemia


Input: These data suggest that the tumor promoting/progressing effects of EP1 require the PGE2 synthesized by COX-2.

tumor


Input: Although SET7/9 transcriptionally activate the genes via H3K4 mono-methylation, its target genes are poorly understood.

mono


Input: These mice have normal cardiac structure and function, indicating that haplo-insufficiency of JAM-3 is unlikely to cause the congenital heart defects that occur in 11q-patients.

JAM

congenital heart defects


Input: We found that ASC was methylated in three of five human colon cancer cell lines lacking ASC protein expression.

ASC

colon cancer


Input: Sixty-one diabetics with unprovoked ketosis or ketoacidosis at presentation were tested for glutamic acid decarboxylase antibody (GAD-Ab), tyrosine phosphatase antibody (IA2-Ab), thyroglobulin antibody (TGA), thyroid peroxidase antibody (TPO-Ab) and HLA-DQ genotype.

HLA-DQ

ketoacidosis


Input: The amplification frequency of the RPS6KB1 and TBX2 oncogenes from this amplicon was compared in 27 BRCA1 and BRCA2 mutant breast tumors, 15 breast tumors from high-risk patients with no BRCA1 or BRCA2 mutations, and 62 matched sporadic breast tumor controls.

sporadic


Input: Expression changes in transferrin, vimentin, vinculin, peroxiredoxins, Rho-GTP dissociation inhibitor, grifin, guanine deaminase and 3-phosphoglycerate dehydrogenase were associated here for the first time with obesity.

3-phosphoglycerate dehydrogenase

obesity


Input: To analyse the expression of several mucins (MUC1, MUC2, MUC3, MUC5AC and MUC6), epidermal growth factor receptor (EGFR), v-erb-b2 erythroblastic leukaemia viral oncogene homologue 2 (HER2), thyroid transcription factor-1 (TTF-1), caudal type homeobox 2 (CDX2) and cytokeratin 20 (CK20), and the presence of mutations of EGFR, KRAS and HER2 in congenital pulmonary airway malformations (CPAM).

malformations


Input: In this study, we demonstrate for the first time that human and murine Th1 lymphocytes preferentially adhere to murine inflamed brain venules in an experimental model that mimics early inflammation during EAE.

inflammation


Input: We conclude that the MSH2 and MLH1 genes do not play a role in the pathogenesis of sporadic endometrial cancer.

sporadic


Input: In group II, two cases of del (22) (qter) were identified but neither NSD1, 11p15, nor GPC3 abnormalities were detected.

abnormalities


Input: Persons carrying the GR-9beta haplotype without 22/23EK (n = 53) revealed no significant differences in their body mass index, waist to hip ratio, fat spectrum, and insulin sensitivity or in their cortisol response to dexamethasone and levels of C-reactive protein, compared with noncarriers (n = 113).

C-reactive protein

insulin sensitivity


Input: IL-6 abundance in amniotic fluid and uterine tissues increases in late gestation or with infection-associated preterm labor.

preterm labor

preterm labor


Input: However, despite the presence of polymorphisms that regulate plasma levels of factor VIII, PAI-1, and fibrinogen the association between common polymorphisms of these coagulation protein and ischemic cardiac disease remains ambiguous.

factor VIII

fibrinogen


Input: Therefore, we hypothesized that hormonal regulation of Cyr61 may be important in estrogen-dependent pathogenic processes such as breast tumorigenesis.

tumorigenesis


Input: SREBP-1 Mediates Angiotensin II-Induced TGF-& #946; 1 Upregulation and Glomerular Fibrosis.

Angiotensin II

Fibrosis

Angiotensin II

Fibrosis


Input: In summary, these findings aid in understanding the tumor-suppressive role of miR-124-3p in astrocytoma pathogenesis through the inhibition of PIM1 translation.

astrocytoma


Input: However, the percent of Th2 cells, IL-4 levels and expression of GATA-3 mRNA was markedly higher in patients with mild and moderate to severe asthma than in the control group.

mild


Input: We first determined in vivo that EPO therapy markedly suppressed MOG specific T cell proliferation and sharply reduced the number of reactive dendritic cells (CD11c positive) in EAE lymph nodes during both inductive and later symptomatic phases of MOG (35-55) induced EAE.

EPO

EAE

EPO

EAE


Input: Antral biopsies from 27 patients with H. pylori-associated gastritis and 25 from H. pylori-negative individuals were first analyzed for ENA-78 and interleukin-8 (IL-8) mRNA by semiquantitative reverse transcription (RT)-PCR.

gastritis


Input: In search of epigenetic events related to progression, we used MS-MLPA (ME-0002-B1, MRC-Holland, Amsterdam, The Netherlands) to compare the methylation status of 25 breast cancer-related genes between laser-microdissected ductal carcinoma in situ (DCIS) and adjacent invasive ductal cancer (IDC) lesions in 33 breast cancer patients.

MRC

ductal carcinoma in situ


Input: DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1.


Input: The observation that the different translocation partners of the EWS gene are specifically associated with several distinct types of primitive sarcomas suggests a model in which the translocation partner supplying the DNA-binding domain confers the target specificity of the transcriptional activation mediated by these chimeric proteins, whereas the partner supplying the N-terminal domain and promoter region determines their transactivation potential and expression level.

EWS gene

translocation


Input: Herein, for the first time, we demonstrate that a serine-threonine kinase, Protein Kinase D1 (PKD1), modulates the functions of β-catenin to suppress colon cancer growth.

colon cancer


Input: Our present study highlights the importance of SP1/SP3 activity for CAIX expression and provides additional evidence for distinct mechanisms responsible for true and mild hypoxia-induced CAIX expression.

mild


Input: Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t (9; 15) (q22; q21).

extraskeletal myxoid chondrosarcoma

extraskeletal myxoid chondrosarcoma


Input: We confirmed in a large cohort of ante/neonatal BS that deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively.

hyperkalaemia


Input: Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS.

TPRKB

GAMOS

TPRKB

GAMOS


Input: Further validation of candidate genes on a separate cohort of low and high grade prostate cancers by quantitative MethyLight analysis has allowed us to confirm DNA hypermethylation of HOXD3 and BMP7, two genes that may play a role in the development of high grade tumours.

prostate cancers

prostate cancers


Input: Two polymorphisms, coagulation factor XIII (FXIII) Val34Leu and plasminogen activator inhibitor 1 (PAI-1) 4G/5G, interfere with fibrin cross-linking and regulation of fibrinolysis and may therefore contribute to early pregnancy loss.

plasminogen activator inhibitor 1

early pregnancy loss


Input: AIM: It is important to know the tumor resistance against cisplatin before the treatment of non-small cell lung cancer (NSCLC).

AIM

non-small cell lung cancer


Input: Ten of the isolated patients had multiple paragangliomas, and in eight of these SDHD germline mutations were found, indicating that multicentricity is a strong predictive factor for the hereditary nature of the disorder in isolated patients.

SDHD

paragangliomas

SDHD

paragangliomas


Input: The NF90 Tg mice exhibited a reduction in body weight compared with wild-type mice, and a robust expression of NF90 was detected in skeletal muscle, heart and eye of the Tg mice.

body weight


Input: Over 90% of Ewing sarcoma/primitive neuroectodermal tumors (PNETs) feature an 11; 22 translocation leading to an EWSR1-FLI1 fusion.

translocation


Input: The purpose of this study was to examine the association between polymorphisms in 2 paraoxonase genes (PON1 and PON2) and preterm delivery.

preterm delivery


Input: No mutations were found in either the lesional or constitutional DNA, which suggests that sporadic meningioangiomatosis is not a forme fruste of NF2 and that somatic alterations of the NF2 gene do not play a major role in sporadic meningioangiomatosis.

NF2 gene

sporadic


Input: Numbers of alphaIL-4R mRNA-positive or immunoreactive cells did not correlate with CD3-positive cell numbers, numbers of IL-4 mRNA-positive cells, or indices of pulmonary function.

pulmonary function


Input: In two cases, a t (11; 22) (q24; q12) (EWSR1-FLI-1) chromosomal translocation was demonstrated by reverse transcriptase-PCR (one case) and fluorescence in situ hybridisation (FISH) (one case), and in another case a rearrangement of the EWSR1 gene on chromosome 22 was demonstrated by FISH.

EWSR1 gene

chromosomal translocation


Input: Among indolent B cell lymphoproliferative disorders, NOTCH2 mutations are restricted to SMZL, thus representing a potential diagnostic marker for this lymphoma type.

lymphoproliferative disorders


Input: Though no significant association was found between PTTG1 haplotypes and the risk of pituitary adenoma, this is the first report on the association of individual PTTG1 SNPs or PTTG1 haplotypes with the risk of pituitary adenoma based on a solid study; it will provide an important reference for future studies on the association between genetic alterations in PTTG1 and the risk of pituitary adenoma or other tumors.

pituitary adenoma


Input: This study shows an association between acetylation polymorphism and susceptibility to extrinsic asthma, but not to intrinsic asthma, suggesting a minor role of the NAT2 polymorphism in the development of atopic asthma.

intrinsic asthma


Input: In contrast, the CD4 + T cells found in the lungs of patients with sarcoidosis were conventional CD4 + CD3 + T cells, not natural killer T cells.

sarcoidosis


Input: The CIC-DUX4 translocation was found in six Ewing-like tumors (3%) with CD99 positivity.

translocation


Input: The findings in people with cold sores support our hypothesis that APOE-epsilon 4 and HSV1 together are damaging in the nervous system.

APOE

nervous system


Input: We demonstrated that positive MTA1 expression was significantly higher whereas positive expressions of KAI-1 and KiSS-1 genes were significantly lower in gallbladder adenocarcinoma than in peritumoral tissues, polyps, and chronic cholecystitis.

chronic cholecystitis


Input: Transcription and translation analyses of IGF-1/2, p-AKT, p-S6K, and TSC1/2 in fibroids and matched myometrium.

AKT

fibroids


Input: In epilepsy at least, the deletion does not appear to unmask recessive-acting mutations in NDE1, with haploinsufficiency and genetic modifiers being prime candidate disease mechanisms.

epilepsy


Input: In a non-psychiatric cohort of 419 Caucasians, the severity of depression was assessed prospectively during pregnancy (3rd trimester) and the postpartum period (2-3 days and 6-8 months) using the Edinburgh Postnatal Depression Scale.

period (2

Postnatal Depression

period (2

Postnatal Depression


Input: The data demonstrate that AHR deficiency significantly reduces weight gain and adiposity, and increases multilocular lipid droplet formation within perigonadal white adipose tissue (gWAT).

AHR

weight gain

AHR

weight gain


Input: After ANP gene delivery, there were significant increases in urinary volume and urinary potassium output (n = 6, P <. 05) but not in body weight, heart rate, water intake, urinary sodium output, urinary creatine, and urinary protein.

ANP

heart rate


Input: Our in vivo and in vitro results question the relationship of causality between LMNA mutations and the development of heart failure in some DCM patients and therefore, the reliability of genetic counselling.

LMNA

DCM

LMNA

DCM


Input: Under pathological hypoxia, the catalytic activities of JMJD2A, JMJD2C and Jumonji/ARID domain-containing protein 1B (JARID1B) were blocked due to the lack of their substrate, i. e.

hypoxia


Input: Similarly, only chimera2 rescued the function of AKT1 in mediating pressure-stimulated adhesion after endogenous AKT1 had been reduced.

adhesion


Input: These results suggest that one candidate gene, FLJ25076, encodes a ubiquitin-conjugated enzyme E2 type, which is locally expressed in thoracic and scalp tissues.

thoracic


Input: Breast cancer metastasis suppressor 1 (BRMS1) suppresses metastasis of multiple tumor types without blocking tumorigenesis.

tumorigenesis


Input: Furthermore, IF1 was an independent prognostic marker for predicting 5-year overall survival and disease-free survival of gastric cancer patients.

gastric cancer


Input: To determine whether patients with rheumatoid factor (RF)-negative, antinuclear antibody (ANA)-positive oligo/polyarthritis are clinically and immunogenetically distinct from RF-positive rheumatoid arthritis (RA) and whether this subset of patients is the adult counterpart of early-onset pauciarticular juvenile chronic arthritis (EOPA JCA), we retrospectively studied 20 adult patients with RF-negative, ANA-positive arthritis.

ANA

polyarthritis


Input: Increases in innervation of sensory C-fibers and tachykinin receptors, which mainly involve overproduction of neurotrophins such as nerve growth factor (NGF), may enhance neurogenic inflammation.

nerve growth factor

neurogenic inflammation

nerve growth factor

neurogenic inflammation


Input: We have analyzed the 27 exons and the promoter region of the RB1 gene in familial or sporadic bilateral retinoblastoma by using single-strand conformation polymorphism analysis.

retinoblastoma

retinoblastoma


Input: Furthermore, BRCA1, PP1beta and PP1gamma were significantly higher in normal tissue specimens (BRCA1 p = 0. 01, PP1beta: p = 0. 03, PP1gamma, p = 1. 9 x 10 (-6)) compared to sporadic breast tumor samples.

sporadic


Input: Mutations in PRRT2 are a major cause of PKD in familial and sporadic cases in the European population.

sporadic


Input: Bcl-2 expression was positively correlated with expression of the transcription factors microphthalmia transcription factor (MITF) and nuclear AP-2 whereas Bcl-XL (and Mcl-1) expression were positively correlated with p-Stat3.

microphthalmia


Input: This study tested for an association between SLC18A2 and ADRB1 and treatment outcome in 873 major depressive disorder patients treated with the antidepressant citalopram in the Sequenced Treatment Alternatives to Relieve Depression study.

Depression

Depression


Input: We recently reported 2 linked polymorphisms within regulatory regions of the gene for the atrial gap junction protein connexin40 (Cx40) at nucleotides-44 (G--> A) and + 71 (A--> G), which were associated with familial atrial standstill.

atrial standstill


Input: Early diagnosis may be facilitated by clinician awareness of the insidious onset of renal failure, and an elevated erythrocyte sedimentation rate and C-reactive protein.

C-reactive protein

elevated erythrocyte sedimentation rate


Input: In view of the importance of genetic counseling, analyses of mutations and polymorphisms, including the ARSA pseudodeficiency allele, were carried out in 18 unrelated Spanish MLD patients.

ARSA

MLD

ARSA

MLD


Input: XRCC1 and XPD genetic polymorphisms, smoking and breast cancer risk in a Finnish case-control study.

smoking


Input: Comparing the observed and expected values of UII genotype frequencies in mild, severe PE, and in controls, no significant difference was noted in the homo-mutant, the hetero-mutant or the wild genotypes.

UII

mild


Input: We found that SK2 was overexpressed in MM cell lines and in primary human bone marrow (BM) CD1381 myeloma cells.

myeloma


Input: The 3' portion of the coagulation factor VII gene, containing the activation and serine protease domains, was investigated in four subjects with factor VII deficiency by temperature gradient gel electrophoresis and sequencing of polymerase chain reaction (PCR) products.

coagulation factor VII

factor VII deficiency

coagulation factor VII

factor VII deficiency


Input: METHODS: In this case-control study, 108 AMD cases with RAP, 258 AMD patients with choroidal neovascularization (CNV) without RAP and 443 healthy controls were evaluated.

RAP

choroidal neovascularization


Input: The aPC resistance is not due to factor V Leiden, but is rather associated with elevated levels of factor VIII and fibrinogen, and in itself does not predict thrombosis.

factor VIII

fibrinogen


Input: MRG15 binds directly to PALB2 and stimulates homology-directed repair of chromosomal breaks.

chromosomal breaks


Input: Global Ptchd1 deletion recapitulates learning impairment, hyper-aggression, and motor defects, all of which are insensitive to SK pharmacological targeting and not found in the TRN-restricted deletion mouse.

TRN

aggression


Input: Knockdown of HIF-1 or hypoxia-induced LOX family members reduced collagen cross-linking, CD11b (+) BMDC recruitment, and metastasis formation in the lungs of mice after orthotopic transplantation of human breast cancer cells.

LOX

hypoxia


Input: Luciferase reporter activity driven by the Abcc8 promoter was increased by hypoxia and by coexpression of HIF1α.

hypoxia


Input: NFATC1 promotes cell growth and tumorigenesis in ovarian cancer up-regulating c-Myc through ERK1/2/p38 MAPK signal pathway.

tumorigenesis


Input: Significantly higher expression of MTA1 was observed in tumours compared to normal tissues; MTA1 overexpression resulted in reduced adhesion in CRC cell lines.

adhesion


Input: Enhanced expression of the voltage-dependent anion channel 1 (VDAC1) in Alzheimer' s disease transgenic mice: an insight into the pathogenic effects of amyloid-β.

amyloid


Input: In patch-clamp analysis, EFHC1 specifically increased R-type Ca (2 +) currents that were reversed by the mutations associated with JME.

JME

JME


Input: The breakpoint is distinct from the breakpoint in the t (8; 16) (p11; p13) translocation in acute monocytic leukemia with erythrophagocytosis that fuses MOZ with CBP.

acute monocytic leukemia


Input: Correlation of plasma levels of leptin and leptin soluble receptor, and polymorphisms of leptin gene-18G > A, leptin receptor genes K109R and Q223R, and the overweight status were analyzed in relation to gender, intensity of chemotherapy (high intensity vs. standard intensity regimens) and to the use of CRT.

CRT

overweight


Input: Chop-null mice are also resistant to fibrosis, which is a key risk factor for HCC.

HCC

fibrosis


Input: DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure.

bone marrow failure

bone marrow failure


Input: NF-kappa B translocation, which is an essential transducing signal of the TNF-induced lysis pathway, does not appear to be involved in this resistance as assessed by gel shift experiments.

TNF

translocation


Input: However, the polymorphism examined was not significantly associated with risk of arterial thrombosis despite the fact that CRP concentrations are a potent independent predictor of future vascular events in this cohort.

CRP

arterial thrombosis


Input: Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

dermatan-4-sulfotransferase 1

adducted thumb-clubfoot syndrome

dermatan-4-sulfotransferase 1

adducted thumb-clubfoot syndrome


Input: At present no strong evidence exists that large repeat alleles at either SEF2-1B or ERDA1 are involved in the etiology of schizophrenia or bipolar disorder.

bipolar disorder

bipolar disorder


Input: Both down-regulation of glutamate decarboxylase 67 (GAD67) and maternal exposure to severe stress during pregnancy can increase the risk of schizophrenia and related psychotic disorders in the offspring.

glutamate decarboxylase

psychotic disorders

glutamate decarboxylase

psychotic disorders


Input: The study genotyped 106 single nucleotide polymorphisms (SNPs) in four regions (BAK1, DMRT1, KITLG, TERT-CLPTM1L) previously identified from genome-wide association studies of TGCT, including risk single nucleotide polymorphisms (SNPs) rs210138 (BAK1), rs755383 (DMRT1), rs4635969 (TERT-CLPTM1L) in 97 cases with familial TGCT and 22 affected individuals with sporadic bilateral TGCT as well as 871 controls.

sporadic


Input: Both salusin-β-induced VCAM-1 induction and monocyte/HUVEC adhesion were suppressed by pharmacological inhibitors of NF-κB, e. g., Bay 11-7682 and curcumin.

NF-κB

adhesion


Input: Folate and B12 levels were normal in peripheral tissues, suggesting cerebral folate deficiency.

cerebral folate deficiency


Input: Interestingly, genes that showed the most significant link include those that mediate various signaling pathways implicated in colorectal tumorigenesis, such as BMP3 and BMP6 (BMP signaling), EPHA3, KIT, and FLT1 (receptor tyrosine kinases) and SMO (Hedgehog signaling).

tumorigenesis


Input: The syphilis, HBV and HCV infection rates, as well as CD4 (+) T cell counts and viral loads were compared among three APOBEC3B genotype groups (I/I, D/I, and D/D).

syphilis


Input: We demonstrate that in human myxoid liposarcoma cells, wild-type TLS binds to RNA polymerase II (Pol II) via its N-terminal domain and to the transcription and translation factor Y-box binding protein-1 (YB-1) through its C-terminal domain.

myxoid liposarcoma


Input: ] pirenzepine binding was decreased in the dentate gyrus (p <. 05), CA3 (p <. 01), CA2 (p <. 05), and CA1 (p <. 01) regions of the hippocampus from subjects with schizophrenia.

schizophrenia


Input: In the light of data that major depression is associated with an activation of brain CRH and LC-NE systems, the time-dependent effect of long-term imipramine administration on decreasing the gene expression of CRH in the hypothalamus and TH in the LC may be relevant to the therapeutic efficacy of this agent in depression.

TH

major depression

TH

major depression


Input: As a result, a portion of the RAR alpha gene becomes fused with a chromosome 15 locus termed PML (promyelocytic myeloid leukemia) from which chimeric PML/RAR alpha fusion mRNAs are expressed.

alpha gene

myeloid leukemia


Input: We show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded.

Dravet syndrome

Dravet syndrome


Input: Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

Retinitis Pigmentosa

Retinitis Pigmentosa


Input: A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly.

Peters' anomaly

Peters' anomaly


Input: These results indicate qualitative and quantitative differences in TGF-beta isoform and receptor expression by fibroblasts in gingival overgrowth that may contribute to disease pathogenesis.

TGF-beta

gingival overgrowth


Input: A total of 188 infertile men were enrolled in the study: 100 patients with AZOO, 38 with CRYPTO and 50 with OAT.

OAT

infertile


Input: The ratio of CTLA-4 (+)/CD28 (+) in CD4 (+) CD25 (bright) T cells was significantly higher than that of the CD4 (+) CD25 (dim) T cells both in normal pregnancy and in miscarriage.

miscarriage


Input: Mice were infected with a replication-deficient adenovirus encoding CCL18 and then instilled with bleomycin; control mice were challenged with either CCL18 overexpression or bleomycin.

adenovirus


Input: By measuring the rates of Cu and Zn release using an absorbance-based assay, dimer dissociation through chemical cross-linking, and β-barrel conformation changes by tryptophan fluorescence, we established that wild-type SOD1 unfolds by a branched pathway involving a Zn-deficient monomer as the dominant intermediate of the major pathway, and with various metal-loaded and Cu-deficient dimers populated along the minor pathway.

dissociation


Input: Our observation of a high frequency of germline TP53 mutations in children with sporadic ADCC suggests that these children may represent probands with which to ascertain Li-Fraumeni syndrome families.

Li-Fraumeni syndrome

sporadic


Input: Aldosterone synthase (CYP11B2) expression and myocardial fibrosis in the failing human heart.

myocardial fibrosis


Input: The 100 APR patients were grouped into 4 categories: 48 patients with infections, 25 postoperative patients, 17 patients with tumors, and 10 patients with other diseases, all of whom showed substantially higher Lp (a) values than did the controls.

APR

infections


Input: Because (Lys15, Arg16, Leu27) VIP1-7GRF8-27 (VPAC1 selective) but not Ro25-1553 (VPAC2 selective) inhibited specific 125I-VIP binding to mammary tumor membranes with high affinity, VPAC1 receptors predominate.

mammary tumor


Input: Additionally, statistically significant relationships were revealed between BCL2L12 expression level and CD117 expression, the presence of splenomegaly and chemotherapy response.

splenomegaly


Input: Although it is possible that these cases contained cryptic rearrangements of EWSR1 or FUS that were not detectable by our FISH probes, it also raises the possibility that another translocation/gene fusion may be present in angiomatoid fibrous histiocytoma.

translocation


Input: CONCLUSIONS: In an independent high-grade myopia cohort, an intronic SNP in UHRF1BP1L, rs4764971, was validated for quantitative association, and SNPs within PTPRR (quantitative) and PPFIA2 (qualitative and quantitative) approached significance.

myopia


Input: Squamous cell carcinoma antigen 1 promotes caspase-8-mediated apoptosis in response to endoplasmic reticulum stress while inhibiting necrosis induced by lysosomal injury.

Squamous cell carcinoma antigen 1

necrosis


Input: Results of this study demonstrate the dependence of insulin-like growth binding proteins as well as IGF2BP3 and HTRA1 gene expressions in U87 glioma cells on ERN1 signaling enzyme function and hypoxia, indicating its participation in the regulation of metabolic and proliferative processes via IGF/INS receptors, because endoplasmic reticulum stress is an important component of tumor growth and metabolic diseases.

HTRA1 gene

glioma


Input: Therefore we hypothesized that AQP1 water channels may be involved in joint swelling and synovial edema formation.

joint swelling


Input: Moreover, both somatic and vegetative signs of naloxone-induced morphine withdrawal symptoms were substantially reduced in GAT1-overexpressing mice.

withdrawal symptoms

withdrawal symptoms


Input: We next determined the cellular localization and expression levels of four ubiquitously expressed PCs (furin, PACE4, PC5/6 and PC7) in post-menopausal endometrial biopsies from control (n = 7) and endometrial cancer patients (n = 30) by immunohistochemistry.

endometrial cancer


Input: Dabrafenib and trametinib versus dabrafenib and placebo for Val600 BRAF-mutant melanoma: a multicentre, double-blind, phase 3 randomised controlled trial.

BRAF

blind


Input: This lends further evidence to HGV infection not being a cause of cryptogenic cirrhosis and not being associated with the development of HCC in cryptogenic cirrhosis.

HCC

cryptogenic cirrhosis


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

SLT

multiple myeloma


Input: CD40L figures prominently in atherogenesis.

atherogenesis


Input: Because of the severe cartilage overgrowth observed in some patients with CINCA syndrome and the implications of polymorphonuclear cell infiltration in the cutaneous and neurological manifestations of this syndrome, the tissue-specific expression of CIAS1 was evaluated.

CINCA syndrome

CINCA syndrome


Input: Taken together these data indicate that the p50 NF-kappaB subunit plays a critical protective role in the injured liver by limiting the expression of TNF-alpha and its recruitment of inflammatory cells.

liver

liver


Input: Diabetes-associated variants in CDKAL1, CDKN2B, HHEX/IDE, IGF2BP2, KCNJ11, SLC30A8 and TCF7L2 are associated with physiological alterations leading to T2DM, such as glucose intolerance, impaired insulin secretion or insulin resistance, supporting their role in the disease aetiology.

IDE

insulin resistance


Input: We also performed bioinformatic analyses using TargetScan and miRanda and cloned both the wild-type and mutant versions of the human cancerous inhibitor of protein phosphatase 2A (CIP2A) and B lymphoma Mo-MLV insertion region 1 (BMI1) 3'-UTR fragments into the pmirGLO reporter vector.

lymphoma


Input: mRNA editing was assessed in prefrontal cortex of 24 MDD (Suic), 21 MDD (NoSuic), and 56 NC using next generation sequencing. mRNA expression of 5-HT (2C) R and editing enzymes (ADAR1-2) was assessed by real-time PCR.

5-HT (2C

MDD (Suic

5-HT (2C

MDD (Suic


Input: Our results suggest that the aberrant REST-mediated transcriptional regulation of, at least, CRH, adenylate cyclase 5, and tumor necrosis factor superfamily, member 12-13, might be state-dependent and associated with the pathophysiology of major depression.

adenylate cyclase 5

major depression

adenylate cyclase 5

major depression


Input: Compared with sham-infected, OVA-treated mice, virus-infected mice showed increased lung infiltration with neutrophils, eosinophils and macrophages, airway cholinergic hyperresponsiveness, and increased lung expression of cytokines including eotaxin-1/CCL11, IL-4, IL-13, and IFN-gamma.

IFN

lung infiltration


Input: By performing whole-exome sequencing in a family with KHLS, we identified a heterozygous mutation (c. 23G & gt; T [p. Gly8Val]) in GJA1, which cosegregated with the phenotype in the family.

KHLS

KHLS


Input: The CXCR3 chemokine receptor, a member of the CXCR family, has been linked to a pathological role in autoimmune disease, inflammatory disease, allograft rejection, and ischemia.

autoimmune disease

autoimmune disease


Input: To characterize the lymphocytic thyroiditis (LT) of BB/W rats further and to evaluate early increases of cytokine gene expression in LT, we investigated the interleukin (IL)-2,-4,-6,-10,-12p40, interferon-gamma (IFN-gamma) and tumor necrosis factor-alpha (TNF-alpha) gene expression in the thyroids, spleens, and livers of BB/W rats with and without histological evidence for thyroiditis.

TNF-alpha

thyroiditis


Input: In contrast, the cytokines IL-4, IL-10 and IL-13 which have a protective effect against vascular injury leading to atherosclerosis, dose dependently down regulate the biosynthesis of fibrinogen.

fibrinogen


Input: Immunohistochemical expression of AQP1, AQP5, Bcl-2 and p16 was investigated in 107 consecutive oro-hypopharyngeal squamous cell carcinoma cases.

hypopharyngeal squamous cell carcinoma


Input: Disruption of TCBA1 associated with a de novo t (1; 6) (q32. 2; q22. 3) presenting in a child with developmental delay and recurrent infections.

recurrent infections


Input: To determine the maximum tolerated dose (MTD), toxicity spectrum, clinical activity, and biological effects of the tropism-modified, infectivity-enhanced conditionally replicative adenovirus (CRAd), Ad5-Δ24-Arg-Gly-Asp (RGD), in patients with malignant gynecologic diseases.

MTD

adenovirus


Input: Furthermore, activation of both Th1/Th17 cells and regulatory T cells (Tregs) by TGFβ1 reversely regulated by IL-6 highlights the dual role of TGFβ1 in regulating inflammation, a dynamic, context and organ specific process.

inflammation


Input: Human T-cell lymphotropic virus type 1 (HTLV-1), the cause of inapparent infections and T-cell leukemias and lymphomas, has also been implicated in two chronic neurological diseases, tropical spastic paraparesis (TSP) and HTLV-1 associated myelopathy (HAM).

TSP

infections


Input: Importantly, RNA interference-based attenuation of either STAT3 or Fra-1 prevented IL-6-induced EMT, cell migration and invasion, whereas ectopic expression of Fra-1 markedly reversed the STAT3-knockdown effect and enhanced CRC cell aggressiveness by regulating the expression of EMT-promoting factors (ZEB1, Snail, Slug, MMP-2 and MMP-9).

aggressiveness


Input: Whole-exome-and whole-genome-sequencing of MHH-CALL-2 revealed homozygous non-synonymous coding mutations predicted to be deleterious for the protein function of 63 genes, among them known cancer-associated genes, such as FANCA, NF1, TCF7L2, CARD11, EP400, histone demethylases, and transferases (KDM6B, KDM1A, PRDM11).

cancer


Input: To understand the mechanisms of CMM metastasis and identify potential predictive markers, we analyzed gene-expression profiles of 34 vertical growth phase melanoma cases using cDNA microarrays.

CMM

metastasis


Input: Furthermore, Asic3 (-/-) mice demonstrated a blunted response to isoproterenol-induced cardiac tachycardia and prolonged duration to recover to baseline heart rate.

heart rate


Input: Therefore, we examined whether the DRD2TaqIA and MAOA-uVNTR gene polymorphisms are susceptibility factors for alcoholism comorbid with bipolar disorder (ALC + BP) in Han Chinese in Taiwan.

ALC

bipolar disorder


Input: On the contrary, only silent mutations in sporadic cancers correlate with SF2/ASF motifs in p53.

sporadic


Input: Two weeks after stroke, the number of Nop2/nestin double positive cells in the region affected by ischemia and the periventricular zone substantially increased.

ischemia


Input: We studied the influence of both polymorphisms on age of onset in Lynch syndrome and of the p53 polymorphism also in sporadic colorectal cancer.

sporadic


Input: Histopathological evaluation showed that treatment with selenium after ischemia significantly attenuated IR-induced neuronal death in prefrontal cortex and hippocampal CA1 regions of rats.

ischemia


Input: deficiencies or dysfunctions of antithrombin III, protein C, protein S, plasminogen and fibrinogen.

antithrombin III

fibrinogen


Input: Triarylmethane (TRAM)-34, a KCa3. 1 blocker, dose-dependently inhibited the generation and maintenance of the ovalbumin-induced airway inflammation associated with increased Th2-type cytokines and decreased Th1-type cytokine, as well as subepithelial extracellular matrix deposition, goblet-cell hyperplasia, and AHR in a murine model of asthma.

TRAM

inflammation


Input: The purpose of this study is to examine whether Cdk5 is involved in ATRA-induced growth arrest of the castration-resistant cancer cell line DU145 through up-regulating Cdk inhibitor protein, p27.

resistant cancer


Input: Using next-generation sequencing, we detected mutations in the ciliary outer dynein arm (ODA) heavy chain gene DNAH9 in individuals from PCD clinics with situs inversus and in one case male infertility.

PCD

PCD


Input: Also, the frequencies of elevated erythrocyte sedimentation rate and C-reactive protein values were found to be significantly higher in patients who had MEFV mutations.

C-reactive protein

elevated erythrocyte sedimentation rate


Input: The aims of the present study were to determine whether pure populations of myometrial microvascular endothelial cells (MEC) express ERalpha and ERbeta, to compare MEC ERalpha/ERbeta expression with that of pure populations of myometrial smooth muscle cells (SMC) and to determine if ERalpha/ERbeta are differentially expressed in MEC and SMC of myometrium and fibroids from nine paired samples.

SMC

fibroids


Input: (3) IGF1, IGFBP3 were positively correlated to intestinal VH, VSA, saccharase, body weight and length.

body weight


Input: The phenotype of the ABCB7-deficient cells was characterized by a strong reduction in proliferation rate that was not rescued by iron supplementation, by evident signs of iron deficiency, and by a large approximately 6-fold increase of iron accumulation in the mitochondria that was poorly available to mitochondrial ferritin.

iron deficiency


Input: A combined analysis of all 60 families continued to support evidence for association of GRIA1 with psychotic BP; however, individual SNPs could not be replicated across datasets.

BP

BP


Input: To study the role of Smad4 in TGF-beta-induced translocation of the receptor-activated Smads to the nucleus, we analysed by immunofluorescence the cellular localization of endogenous Smad2 and Smad3 after TGF-beta treatment of VACO-9M, plus four additional Smad4 null cell lines of breast (MDA-MB-468), or pancreatic (BxPC3, Hs766T, CFPAC-1) origin.

translocation


Input: Taken together, PDX-1 and MafA play a crucial role in inducing surrogate beta-cells and could be a therapeutic target for diabetes.

MafA

diabetes


Input: Taken together, our findings demonstrate that Dlg5 interacts with and inhibits the activity of Girdin, thereby suppressing the migration of prostate cancer cells.

Girdin

prostate cancer


Input: Colorectal cancer risk and rs3760806 in SULT2B1 were significantly associated in both genders [male: OR & #8201; = & #8201; 1. 38 (1. 15-1. 66); female: OR & #8201; = & #8201; 1. 38 (1. 13-1. 68)].

Colorectal cancer

Colorectal cancer


Input: The low frequency of clinical resistance to PDGFR inhibitors in myeloid neoplasms with abnormalities of PDGFRA might be related to the limited repertoire of possible PDGFRA kinase domain mutations in vitro.

PDGFRA

abnormalities


Input: Therefore, to evaluate the role of AZI in regulating ODC activity in tumors, we successfully down-regulated AZI expression using RNA interference technology in A549 lung cancer cells expressing high levels of AZI.

AZI

lung cancer


Input: In a patient affected with a slowly progressive, severe form of Dejerine-Sottas syndrome, symmetric enlargement of cranial nerves and focal hypertrophy of cervical and caudal roots were detected following MRI.

MRI

enlargement


Input: Additionally, we have characterized for the first time that the extracellular signal-regulated kinase (ERK) 1/2 signaling pathway is mainly involved in VEGF-induced PAI-1 expression and have demonstrated its potential as a target molecule for modulation of scar fibrosis.

VEGF

scar


Input: These results suggest that NPTN may be involved in genetic susceptibility to schizophrenia.

NPTN

schizophrenia

NPTN

schizophrenia


Input: Genomewide linkage scan for diabetic renal failure and albuminuria: the FIND study.

FIND

renal failure


Input: During development, Ptn transcripts and protein were expressed in ventral mesenchymal pad (VMP) and prostatic mesenchyme.

VMP

pad


Input: Seven PRRT2 mutations were identified in nine (90. 0%) familial cases and in six (28. 6%) sporadic cases.

sporadic


Input: Using a double-stranded RNA interference approach, we demonstrated that preventing the hypoxia inducible HSP70 enhanced down-regulation of syntaxin and synaptotagmin, and aggravated motor and sensory suppression.

hypoxia


Input: Neurochem., 83 (2002) 1262-1271] we reported that exposing cells of neuronal origin to a period of chronic hypoxia (CH; 2. 5% O (2), 24 h) led to a decrease in processing of the amyloid precursor protein (APP) by the alternative and neuroprotective alpha-secretase pathway.

APP

hypoxia


Input: PCR array and subsequent transwell assay showed that the regulation of gastric cancer metastasis by RhoE was partially mediated by CXCR4.

RhoE

gastric cancer


Input: The type 1 ryanodine receptor (RyR1) is a Ca2 + release channel in the sarcoplasmic reticulum of skeletal muscle and is mutated in several diseases, including malignant hyperthermia (MH) and central core disease (CCD).

malignant hyperthermia


Input: All but one of the 109 amplicons were successfully read, and we identified the two PKHD1 mutations in 11 of the ARPKD cases, one mutation in 9 patients, and no mutation in only 2 patients.

ARPKD

ARPKD


Input: G17V RHOA: Genetic evidence of GTP-unbound RHOA playing a role in tumorigenesis in T cells.

RHOA

tumorigenesis


Input: Our data suggests the integration of cases with JAK2-PCM1 fusion in the respective WHO category of myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1.

PDGFRA

abnormalities


Input: Given that RNA helicase encoded by MDA-5 is a critical molecule involved in the innate immune defense against viruses, viral infection may play an important role in the pathogenesis of C-ADM and rapidly progressive ILD.

ADM

rapidly progressive


Input: The results were correlated with concentrations of fibrinogen, FVIII and thrombin-activatable fibrinolysis inhibitor (TAFI), and global haemostatic markers: endogenous thrombin potential (ETP) and overall haemostatic potential (OHP).

FVIII

fibrinogen


Input: Western blot analysis and confocal microscopy showed that the tight junction proteins claudin-5, JAM-1, occludin and zonula occluden-1 between endothelial cells were significantly degradated, but the protein expression of caveolin-1, the principal marker of caveolae in endothelial cells, increased after ischemia, all of which were alleviated by CG treatment.

ischemia


Input: Immunohistochemistry studies showed that these MSI-H unmethylated foci of atypical endometrial hyperplasia failed to express MLH1, as did regions of simple hyperplasia.

hyperplasia


Input: We believe that the relevance of nerve trunk hypertrophy in HMSN is probably underevaluated: therefore MRI investigation of the head and spine should be included in the diagnostic study of selected HMSN patients.

MRI

hypertrophy


Input: For in vitro and in vivo experiments, MSCs were transfected with adenovirus carrying either enhanced green fluorescent protein gene (AdexCAEGFP) or cytosine deaminase gene (AdexCACD), to establish MSC-expressing EGFP (MSC-EGFP) or CD (MSC-CD).

MSC

adenovirus


Input: Like NPY, the gut hormone PYY has the potential to attenuate depression-like behaviour but does not share the ability of NPY to reduce anxiety-like behaviour.

PYY

depression

PYY

depression


Input: 21-hydroxylase deficiency is a recessively inherited disorder of steroidogenesis, resulting from mutations in the CYP21 gene.

21-hydroxylase deficiency

21-hydroxylase deficiency


Input: Here, we report for the first time that mutations in CABP4 lead to autosomal recessive CSNB.

CSNB

CSNB


Input: The translocation liposarcoma (TLS) gene is fused to the ETS-related gene (ERG) in human myeloid leukemia, resulting in the generation of a TLS-ERG protein.

ERG

liposarcoma


Input: A correct transmission of BMP signaling via the Smad1/5/8 pathway could be demonstrated in WERI-Rb1 retinoblastoma cells and application of recombinant human BMP4 resulted in an increase in apoptosis, which to a large extend is caspase independent.

retinoblastoma


Input: In SS gerbil, NPY immunoreactivity in the hippocampus was lower than that in seizure resistant gerbil.

NPY

seizure

NPY

seizure


Input: Apolipoprotein E (ApoE) is a major transporter of lipids and cholesterol in the nervous system.

Apolipoprotein E

nervous system


Input: The meta-analysis results demonstrated that the + 104T/C polymorphism in the 5'-UTR of GDF5 is associated with risk of knee osteoarthritis.

UTR

knee osteoarthritis


Input: Most of these obesity disorders, with the exception of the MC4R mutations, exhibit recessive inheritance and a distinct phenotype with varying degrees of hypothalamic dysfunction, and they unravel the critical role of the central leptin and melanocortin pathways in human appetite control and energy homeostasis.

hypothalamic dysfunction


Input: The histological findings and the expression of TPM3-ALK fusion gene confirmed a diagnosis of an inflammatory myofibroblastic tumor.

inflammatory myofibroblastic tumor

inflammatory myofibroblastic tumor


Input: There is increasing evidence that genes regulating the HPA axis have effects on suicidal behaviors.

HPA

suicidal


Input: Our study has revealed a molecular mechanism for the persistent activation of the SHH pathway which promotes the development of neuroblastoma, and suggests a new approach for the treatment of this childhood malignant tumor.

SHH

neuroblastoma


Input: We hypothesize that this region may be involved in the interface of sialidase binding with lysosomal cathepsin A and/or beta-galactosidase in their high-molecular-weight complex required for the expression of sialidase activity in the lysosome.

cathepsin A

weight


Input: Increased incidence of the TT genotype of the NOS3 rs1808593 SNP was found in the group of hypoxic-ischemic encephalopathy patients with medium and severe brain damage.

hypoxic-ischemic encephalopathy


Input: During prolonged aura in FHM, MRI shows reduced CBF, capillary flow disturbances and a possible pH drop that could indicate tissue hypoxia.

MRI

hypoxia


Input: The CCN family members cysteine-rich 61 (Cyr61/CCN1), connective tissue growth factor (CTGF/CCN2) and nephroblastoma over-expressed (Nov/CCN3) play diverse roles in cells, are known to regulate cell growth, adhesion, matrix production and migration and are involved in endocrine-regulated pathways in various cell types.

adhesion


Input: Several genes have been newly associated with gastric carcinogenesis, both through oncogenic activation (GSK3β, CD133, DSC2, P-Cadherin, CDH17, CD168, CD44, metalloproteinases MMP7 and MMP11, and a subset of miRNAs) and through tumor suppressor gene inactivation mechanisms (TFF1, PDX1, BCL2L10, XRCC, psiTPTE-HERV, HAI-2, GRIK2, and RUNX3).

carcinogenesis


Input: We hereby report the molecular study of the WISP3 gene in nine unrelated consanguineous families originating from the Middle-East: three from Lebanon, five from Syria, and one from Palestinian Bedouin descent, all affected with PPD.

PPD

PPD


Input: Three variants p. [Asn10Lys; Gln11Lys]; [Tyr283His] were identified in the GNRHR coding region in a male with sporadic complete nIHH.

GNRHR

sporadic


Input: We assessed the efficacy of taxane chemotherapy in BRCA1-and BRCA2-associated patients compared with sporadic metastatic breast cancer patients.

sporadic


Input: Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

hyccin

hypomyelination and congenital cataract

hyccin

hypomyelination and congenital cataract


Input: In mouse MEL erythroleukemia cells, p16INK4a associates preferentially with cdk6 under conditions where cdk4 and cdk6 are coexpressed at equivalent levels.

erythroleukemia


Input: In both human sepsis blood leukocytes and an LPS tolerant human THP-1 cell model, we show that IκBα and v-rel reticuloendotheliosis viral oncogene homolog B (RelB) function as dominant labile mediators of fHC formation at the IL-1β promoter.

IκBα

sepsis


Input: At the same time, overexpression of cyclin D1, Cdk4, and Rb was found in the corresponding lesion in adjacent esophageal sections.

cyclin D1

esophageal


Input: Among the high abundance proteins identified were sets of proteins associated with inflammation, including the classical NFkappaB, p65 (RelA) and NFkappaB, p65 (RelB).

RelB

inflammation


Input: Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.

Erythrokeratoderma variabilis

Erythrokeratoderma variabilis


Input: In tumor-bearing C57BL/6 mice, a single intratumoral injection of OAdV220 produced detectable PNP activity for at least 6 days and with prodrug, retarded the growth of aggressive RM1 s. c. tumors by 35% at day 14.

tumors


Input: This is the first report of mutations affecting PPT and ESE in the ASAH1 gene resulting in FD.

FD

FD


Input: BCAR4 mRNA levels were measured in primary breast tumours, and evaluated for association with progression-free survival (PFS) and clinical benefit in patients with oestrogen receptor (ER & #945;)-positive tumours receiving tamoxifen as first-line monotherapy for advanced disease.

breast tumours

breast tumours


Input: The results from this study provide strong evidence of a role for the SphK1/S1P/EDG1 pathway in liver metastasis, thus making it an attractive therapeutic target for the development of new anti-HCC drugs.

HCC

liver metastasis


Input: The two most widely expressed GRKs (GRK2 and GRK5) play a role in cardiovascular disease and thus represent important targets for the development of novel therapeutic drugs.

cardiovascular disease

cardiovascular disease


Input: Diagnostic criteria for MFS were fulfilled in 94 patients, 62 (66%) of whom had an FBN1 mutation.

MFS

MFS


Input: Taken together, our data indicate that impaired mTORC1 signaling and influenced ALP may contribute to TDP-43-mediated neurodegeneration.

neurodegeneration


Input: CDK4, p27, and E2F-1 expression were examined in chondrosarcoma and osteochondroma of the jaws by immunohistochemical ABC method.

osteochondroma


Input: TLR2 and TRIF signaling are necessary for muscle regeneration after ischemia while MyD88 may instead mediate muscle injury.

ischemia


Input: Unmodified superoxide dismutase 1 variants that shared similar dissociation constants with SOD1 (WT) had disproportionately increased dissociation constants when glutathionylated.

dissociation


Input: Nevertheless, LPL activity was higher in Pro12Ala carriers than in non-carriers after adjusting for obesity, insulin resistance and inflammation.

LPL

insulin resistance


Input: A case-control study was carried out, including 74 idiopathic infertile Algerian patients with NOA (n = 46) or severe OAT (n = 28) and 84 fertile men as controls.

OAT

infertile


Input: AIM: To describe the relationship between airway IL-33 and markers of eosinophilic airway inflammation, as well potential triggers of IL-33, in mild, steroid-free asthma.

AIM

inflammation


Input: We describe two patients from unrelated families with combined alpha-delta storage pool deficiency due to mutations in GFI1B, a zinc finger protein known to act as a transcriptional repressor of various genes.

storage pool deficiency

storage pool deficiency


Input: In 57 specimens from 49 patients with MPNST (35 sporadic, 14 neurofibromatosis type 1-related), TA was determined using the telomeric repeat amplification protocol, and ALT was detected by assaying ALT-associated promyelocytic leukemia bodies (APB) and terminal restriction fragment (TRF) length distribution.

TRF

neurofibromatosis type 1


Input: Compared to wild type SH2B3, PH domain mutants have mild loss of function, with no evidence for a dominant-negative effect.

mild


Input: That differences were observed between i (1q) carcinomas and der (1; 16) (q10; p10) carcinomas with regard to their patterns of clonal evolution hints that the pathogenetic effect of the primary change in these two situations may be more than the mere gain of an extra copy of 1q.

carcinomas


Input: Theca cells of obese, compared to control, pigs displayed androstenedione hypersecretion in response to in vitro treatment with LH, and up-regulated 3-beta-hydroxysteroid dehydrogenase 1 and 17-beta-hydroxysteroid dehydrogenase 4 transcript levels in response to in vitro treatment with LH or LH + insulin.

17-beta-hydroxysteroid dehydrogenase 4

obese


Input: The PIK3CA mutation seems to characterize the luminal-type BC, in both sporadic and BRCA2 mutated forms, and is absent in the basal-type BC, in both the sporadic and BRCA1 mutated forms.

sporadic


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: In support of this hypothesis, ARK5 was induced when an MAFB or c-MAF expression vector was introduced into non-ARK5-expressing colon cancer cells.

MAFB

colon cancer


Input: Mutations in Pstpip2, LPIN2 and IL1RN have been identified in monogenic autoinflammatory bone disorders that have allowed more detailed dissection of the immunologic defects that can produce sterile osteomyelitis.

sterile


Input: Taken together, this study determines the levels of miR-19a and TNF-α in both DSS-induced experimental murine colitis and human UC and further demonstrates that miR-19a might directly regulate TNF-α.

colitis


Input: The canonical MYC transcriptional target, p21, but not MTDH, was differentially expressed compared with Ewing sarcomas.

MTDH

sarcomas


Input: According to the presence of two or three rearrangements, these lymphomas are called double-hit lymphomas or triple-hit lymphomas (THL), respectively.

THL

hit


Input: Yp-specific sequences, including the testicular determinant gene SRY, have been detected and located in a 46, XX true hermaphrodite individual, using PCR amplification and fluorescent in situ hybridization (FISH).

FISH

true hermaphrodite


Input: Supporting this observation, mouse mammary tumor cells that have undergone EMT showed upregulated JNK activity, and the EMT was reversed by JNK inhibition.

EMT

mammary tumor


Input: In vivo, combined usage of PEP-1-SOD1 and PEP-1-CAT produced a greater effect than individual proteins on the reduction of CK-MB, cTnT, apoptosis rate, lipoxidation end product malondialdehyde, and the infarct size of myocardium.

PEP

infarct


Input: In addition, forced overexpression of CYP2J2, and CYP BM3F87V or addition of epoxyeicosatrienoic acids (EET) in cultured carcinoma cell lines in vitro markedly accelerated proliferation by analyses of 3-(4, 5-dimethylthiazol-2-yl)-2, 5-diphenyltetrazolium bromide, cell accounts, and cell cycle analysis, and protected carcinoma cells from apoptosis induced by tumor necrosis factor alpha (TNF-alpha) in cultures.

carcinoma


Input: MSI promotes tumorigenesis through generating mutations in target genes that possess coding microsatellite repeats, such as TGFBR2 and BAX.

tumorigenesis


Input: Exposing MV-SMC to hypoxia (1% O2) revealed a different pattern of expression with no significant change in TACE protein, but an increase in TACE mRNA occurring at a later time point (48 hours).

SMC

hypoxia


Input: Several differentially expressed genes were associated with tumor suppression, invasion, and metastasis, including SPP1 (osteopontin), COL18A1 (endostatin), PTPRK, and DOCK4.

PTPRK

metastasis


Input: These observations led us to ask whether axon dysinnervation is a primary phenotype, and why the E421K, but not other, TUBB2B substitutions cause CFEOM.

CFEOM

CFEOM


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.

addiction


Input: We provide evidence that approximately 27% of ERBB2-positive human breast cancer specimens display high expression of HES1, phospho-S6RP, and GLUT1.

breast cancer

breast cancer


Input: Erythropoietic protoporphyria (EPP) is a genetic disease that results from the defective mutation in the gene encoding ferrochelatase (FECH), the enzyme that converts protoporphyrin IX (PPIX) to heme.

ferrochelatase

Erythropoietic protoporphyria

ferrochelatase

Erythropoietic protoporphyria


Input: In patients with this diffuse infiltrative lymphocytosis syndrome (DILS) the CD8 lymphocytosis, which probably depends on histocompatibility antigen status, may influence disease progression in HIV infection.

diffuse infiltrative lymphocytosis syndrome


Input: Immunohistochemistry (IHC) was performed to analyze CBR1 expression in 78 cases of HCC and 123 cases of colon cancer tissues.

HCC

HCC


Input: IL-10 mRNA was not detected while IL-4 mRNA was primarily detected in naïve T-lymphocytes of patients with a mild and early lesion.

mild


Input: In view of the high frequency of R117H-7T identified by cystic fibrosis newborn screening, the uncertain outcome of the asymptomatic children, and physicians' difficulty in managing these situations, we propose the withdrawal of the R117H variant from the panels of CFTR mutations used in cystic fibrosis newborn screening, given the expanding implementation of cystic fibrosis newborn screening.

CFTR

asymptomatic


Input: The phospholipase C-gamma1 gene (PLCG1) and lithium-responsive bipolar disorder: re-examination of an intronic dinucleotide repeat polymorphism.

bipolar disorder

bipolar disorder


Input: The prevalence of aneuploidy and tetraploidy was not statistically different in the three groups with different BRCA1 status.

aneuploidy


Input: New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types.

ADC

ADC


Input: The gene-environment interaction between current smoking and three or more APE1 148Glu or XRCC1 399Gln alleles was statistically significant (OR 2. 44, 95% CI 1. 00-9. 22, P = 0. 049).

smoking


Input: On the other hand, APOA1 M2 (+/-) and APOC3 SstI polymorphisms may not be associated with gallstone disease.

gallstone disease


Input: The present study was performed to determine whether NF-kappa B was activated in vivo by global ischemia in hippocampal CA1 neurons.

ischemia


Input: We studied 61 patients with asthma and/or atopy and 129 to 157 newborn controls for the-403 RANTES,-28 RANTES, and-1055 IL-13 SNPs, as well as 47 patients and 60 newborn controls for the-444 LTC4S SNP.

atopy


Input: In the present study we systematically screened the coding region of POMC in 96 extremely obese children and adolescents, 60 healthy underweight individuals and 46 patients with anorexia nervosa (AN) and identified several variants.

POMC

underweight


Input: Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.

Spinocerebellar ataxia 28

Spinocerebellar ataxia 28


Input: NKX2. 2 suppresses self-renewal of glioma-initiating cells.

NKX2. 2

glioma


Input: We have characterized 11 HME families and 6 sporadic cases involving a total of 37 patients and performed mutational analysis of EXT1 and EXT2.

HME

sporadic


Input: Thus, our data suggest that the altered expression of DNMTs is state dependent and that the aberrant epigenetic gene regulations caused by the altered expression of DNMT1 and DNMT3B may be associated with the pathophysiology of mood disorders.

mood disorders

mood disorders


Input: Furthermore, p12 (CDK2-AP1) over-expression inhibited in vivo tumor growth in immunodeficiency mice, supporting an inhibitory role for p12 (CDK2-AP1) in breast cancer development.

immunodeficiency


Input: This chromosomal translocation generates a chimeric transcript that is formed by fusion of the 5' region of the Ewing' s sarcoma gene, EWS, with the 3' DNA-binding segment of WT1, the Wilms' tumor suppressor gene.

EWS

chromosomal translocation


Input: Of three different genes responsible for USH1. USH1B maps to 11q13. 5 (ref.


Input: Because the only human cell types that have so far been shown to synthesize proteoglycans that have heparin-like glycosaminoglycans bound to a protease-resistant peptide core are mast cells and basophilic leukocytes from patients with myelogenous leukemia, it is possible that the HBM-M cell is a mast cell progenitor cell.

HBM

myelogenous leukemia


Input: The present study evaluates the association between the Pro12Ala polymorphism of PPARγ2 and the progression of albuminuria and decay in glomerular filtration rate (GFR) in type 2 diabetes.

GFR

albuminuria


Input: The 2007 American Society of Clinical Oncology and College of American Pathologists (ASCO/CAP) joint guidelines defined criteria for HER2 positivity of tumors that modified those of the US Food and Drug Administration (FDA), causing some confusion and uncertainty among clinicians.

confusion


Input: Since the rs2476601 risk allele frequency differs dramatically across ethnicities, we assessed robustness of PTPN22 association with SLE and its clinical sub-phenotypes across four ethnically diverse populations.

SLE

SLE


Input: NFκB up-regulation of glucose transporter 3 is essential for hyperactive mammalian target of rapamycin-induced aerobic glycolysis and tumor growth.

glucose transporter 3

hyperactive


Input: Aberrant interferon expression occurs in patients in whom ADAR1 mutations cause Aicardi-Goutières syndrome (AGS) or dystonia arising from striatal neurodegeneration.

neurodegeneration


Input: Malfunction of mismatch repair (MMR) system and p53 produces nuclear genomic instability and is involved in colorectal tumorigenesis.

MMR

tumorigenesis


Input: A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.

keratin 5

Weber-Cockayne epidermolysis bullosa

keratin 5

Weber-Cockayne epidermolysis bullosa


Input: We investigated the effect of IL-25 on the expression of several adhesion molecules on human eosinophils and the underlying intracellular mechanisms.

adhesion


Input: CD5-positive, cyclinD1-negative mantle cell lymphoma with a translocation involving the CCND2 gene and the IGL locus.

CCND2 gene

translocation


Input: Interestingly, although NAT2 genotype did not influence risk either alone or in combination with smoking exposure, there was evidence of a statistically significant gene-gene-environment three-way interaction.

smoking


Input: Both SST methylation frequency and normalized methylation value (NMV) were significantly higher in Barrett metaplasia without dysplasia or EAC (BE), low-grade and high-grade (HGD) dysplasia occurring in BE, EAC, and ESCC than in NE (P & lt;. 01).

SST

Barrett metaplasia

SST

Barrett metaplasia


Input: Mutations in the gene encoding the endothelin receptor type B (EDNRB) produce congenital aganglionic megacolon and pigment abnormalities in mice and humans.

EDNRB

pigment


Input: Twenty-five of the ALD probands whose ALD genes appeared normal by Southern blot analysis were surveyed for mutations by Single Strand Conformation Polymorphism (SSCP) procedures and DNA sequence analysis.

ALD

ALD

ALD

ALD


Input: Our important findings could provide a novel cancer therapy strategy by blocking either Ser-176 or Ser-165 phosphorylation or both of YBX1 in colon cancer.

colon cancer

colon cancer


Input: The top psychosis-associated, differentially methylated region, significantly hypomethylated in affected twins, was located in the promoter of ST6GALNAC1 overlapping a previously reported rare genomic duplication observed in SZ.

psychosis

psychosis


Input: With the exception of pharmacologically mediated weight gain, rrGH and rmGH had no adverse effects in 5-week oral toxicity studies and no production of anti-recombinant GH antibodies.

GH

weight gain

GH

weight gain


Input: In contrast, NMI patients had a lower incidence of seizures than TSC patients with TSC1 mutations, but had a higher incidence of both renal angiomyolipomas and pulmonary lymphangioleiomyomatosis.

NMI

seizures


Input: Polymorphism of CYP3A4 2 and eNOS genes in the diabetic patients with hyperlipidemia undergoing statin treatment.

hyperlipidemia


Input: SCN2A expression and the concentration of Cu-Zn SOD in the cerebral cortexes of patients with primary and secondary temporal lobe epilepsy and normal brain cortex tissues were detected.

secondary


Input: The native cancerous MUC1 protein was purified from ascites fluid of a patient suffering from small cell lung carcinoma by immunoaffinity chromatography and used as a standard preparation in the assay buffer.

ascites


Input: This study was conducted to explore the effects of genetic polymorphisms (CYP1B1 * 2 G355T, CYP1B1 * 3 C4326G, and CYP2E1 * 5 G-1293C) and environmental factors (smoking and drinking) on susceptibility to laryngeal cancer in a Han Chinese study group.

smoking


Input: These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.

bipolar disorder

bipolar disorder


Input: Family segregation studies were possible in four out of five probands and showed possible sex-specific differences: CELSR1 variants showed almost complete penetrance in females and were associated with early-onset lymphedema, whereas in males they showed incomplete penetrance and were associated with late onset of the condition.

early-onset lymphedema

early-onset lymphedema


Input: The SDHD region contains another gene, DPP2/TIMM8B, the homolog of which causes dystonia and deafness seen in Mohr-Tranebjaerg syndrome.

dystonia


Input: Our results suggest that SOHLH1 may be regarded as a new candidate gene for POI.

POI

POI


Input: We studied the activity of caspase-1,-3 and-8 in the hippocampus of rats exhibiting status epilepticus induced by pilocarpine. All three caspases were activated.

status epilepticus

status epilepticus


Input: We also found four families of HPD without any mutations in the coding region of GCH-I gene.

GCH-I

HPD

GCH-I

HPD


Input: In this study, 66 unrelated patients with USH1 were evaluated for defects in MYO7A using single-strand conformation polymorphism analysis and direct genomic sequencing.


Input: These genes included SELP, CCL2, and matrix metalloproteinase 3, which are involved in extravasation and adhesion of inflammatory cells.

SELP

adhesion


Input: The p. Gly1170Ser mutation of COL2A1 in the family described is responsible for pathology confined to the hip joint, which presents as isolated precocious hip OA, AVN of the femoral head, or Legg-Calv & #233;-Perthes disease.

Perthes disease

Perthes disease


Input: Global Igfbp1 deletion did result in a significant increase in body weight and body fat mass.

body weight


Input: Therefore, in this study, we investigated the role of H (2) in glucose transport by studying cultured mouse C2C12 cells and human hepatoma Hep-G2 cells in vitro, in addition to three types of diabetic mice [Streptozotocin (STZ)-induced type 1 diabetic mice, high-fat diet-induced type 2 diabetic mice, and genetically diabetic db/db mice] in vivo.

STZ

hepatoma


Input: Human T-lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is an inflammatory neurologic disease caused by HTLV-1 infection, in which HTLV-1-infected CD4 (+) T cells and HTLV-1-specific CD8 (+) T cells may play a role in the disease pathogenesis.

tropical spastic paraparesis


Input: Lastly, a familial platelet disorder with a propensity to develop myeloid leukemia has been linked to 21q22. 1-22. 2 and conceivably might involve AML1, ERG or yet another gene.

ERG

platelet disorder


Input: We recently assigned a gene for autosomal recessive cornea plana congenita (CNA2; MIM No.

MIM

cornea plana


Input: Our study revealed a stage-dependent induction of Cyr61 mRNA and protein in breast cancer tumorigenesis and for the first time alternative splicing of the Cyr61 gene due to intron retention.

Cyr61 gene

tumorigenesis


Input: Tumor DNA was obtained from BRCA1 (n = 14) and BRCA2 (n = 12) mutation carriers, as well as sporadic cases (n = 26).

sporadic


Input: Since Cx43 is the connexin isoform expressed preferentially in astrocytes in the spinal cord, we used a small interfering RNA (siRNA) approach to examine whether suppression of spinal Cx43 expression inhibits mechanical hypersensitivity in rats after an L5 spinal nerve ligation (SNL).

SNL

hypersensitivity


Input: LPS plus hyperinflation (" double-hit ") increased all ALI parameters (ELW, EVPE, permeability index, MPO activity) by 3-4 fold compared to control, which were again decreased by ropivacaine.

MPO

hit


Input: Differences in gene expression profiles were seen between centrifugal and centripetal perfusion patterns in the sulphotransferase family, cytosolic, 1 A, phenol-preferring, members 1 and 2 (SULT1A1, SULT1A2), poly (ADP-ribose) polymerase, member 6 (PARP6), and metastasis tumour antigen1 (MTA1).

tumour


Input: We present evidence that resumption of miR-211-mediated downregulation of PDK4 in melanoma cells causes inhibition of invasion by nonpigmented melanomas via HIF-1α protein destabilization.

melanoma


Input: Furthermore, these findings are in agreement with the human genetic studies suggesting a strong association of GRID1 gene with several neuropsychiatric disorders including schizophrenia, bipolar disorder, autism spectrum disorders and major depressive disorder.

schizophrenia

schizophrenia


Input: Immunohistochemical study of c-erbB-2 oncoprotein overexpression in human major salivary gland carcinoma: an indicator of aggressiveness.

aggressiveness


Input: The possibility that FGF2 is involved in ASM-cell hyperplasia is raised, not only because it induces ASM-cell proliferation by itself but because of recent findings showing that FGF2 confers to ASM cells the ability to proliferate in response to different asthma mediators.

hyperplasia


Input: Here we show that hypoxia induces CDCP1 expression and tyrosine phosphorylation in hypoxia-inducible factor (HIF)-2α-, but not HIF-1α-, dependent fashion.

hypoxia


Input: The induction of HSP70 protein in hippocampus following increasing durations of global ischemia correlates with the regional and cellular vulnerability to ischemia: CA1 neurons express HSP70 after the briefest periods of ischemia followed by CA4, CA3, dentate granule neurons, glia, and lastly, endothelial cells.

ischemia


Input: Lp-PLA2 activity for men aged 50-79 years was significantly and positively related to intima-media thickness (IMT) (P = 0. 013) and plaque index (P = 0. 008) independent of traditional risk factors including small LDL particles, but not to coronary artery calcification (CAC) score.

CAC

coronary artery calcification


Input: Using a porcine model of myocardial ischemia-reperfusion injury during CPB with a 60-min aorta cross-clamp, 20 pigs (15 ± 0. 5 kg) were treated randomly with either a 1-ml (20, 000 IU/kg) IFN-γ injection (IFN-γ group; n = 10) or saline solution (control group; n = 10) 24 h prior to CPB.

IFN

myocardial ischemia


Input: Blockade of astrocyte gap junction with carbenoxolone (CBX) prevented oxaliplatin-induced mechanical hypersensitivity in a dose-dependent manner and the increase of spinal GFAP expression, but had no effect once the mechanical hypersensitivity induced by oxaliplatin had fully developed.

GFAP

hypersensitivity


Input: Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.

GPIX

adhesion


Input: An increased risk was associated with an early age at menarche, a late age at first childbirth, nulliparity, premenopausal status and increasing periods of breast cell mitotic activity (BCMA) prior to the first childbirth.

BCMA

age at menarche


Input: The aim of this study was to evaluate in a group of 34 Tunisian infertile patients (16 oligozoospermic and 18 azoospermic men) the prevalence of DAZ microdeletions using a rapid molecular strategy: the PCR-DGGE method based on the high degree of homology between the DAZ gene and its autosomally equivalent DAZLA gene.

DAZ

infertile


Input: Placental growth factor is a susceptibility gene for nAMD in a Chinese population, providing new evidence to support a biological role of PGF in choroidal neovascularization.

PGF

choroidal neovascularization


Input: The purpose of this study was to describe the first family associating LQT-3 and AF due to a gain-of-function mutation in SCN5A and assess the usefulness of the sodium blocker flecainide in individuals with both phenotypes.


Input: These subsets were negatively associated with CD4 T cell counts and positively associated with plasma viremia.

viremia


Input: SMRT-GPS2 corepressor pathway dysregulation coincides with obesity-linked adipocyte inflammation.

SMRT

inflammation


Input: The allergen concentration inducing 50% of the maximal CD63 response was similar in patients with asthma [-0. 4795 log ng/ml ± 0. 092 (SE)] and controls (-0. 6351 log ng/ml ± 0. 083, ns) and in atopic and non-atopic subjects.

atopic


Input: GOLPH3 expression was examined by immunohistochemistry in 18 normal ovarian samples, 28 benign tumors, 55 serous borderline ovarian tumors, and 135 epithelial ovarian carcinomas.

benign tumors


Input: In multivariate logistic regression analysis, TNF-α A allele, gender and smoking were associated with myocardial infarction.

TNF-α

smoking


Input: Troponin I, cardiac diastolic dysfunction and restrictive cardiomyopathy.

Troponin I, cardiac

diastolic dysfunction


Input: The new RGD modified vector Ad/TRAIL-F/RGD could become a potent therapeutic agent for the treatment of HCC, adenovirus resistant tumors, and CAR low or negative cancer cells.

HCC

adenovirus


Input: GO and pathway analysis showed that DKK4 are associated with tumor and organ development and immune inflammation.

inflammation


Input: Over-expression of AEG-1 significantly associates with tumour aggressiveness and poor prognosis in human non-small cell lung cancer.

aggressiveness


Input: Consistently, XLDCM patients have decreased levels of dystrophin in cardiac muscle.

dystrophin

XLDCM

dystrophin

XLDCM


Input: Imbalances in the regulation of Th1 and Th2 lymphocytes are crucial in inflammatory bowel diseases.

inflammatory bowel diseases


Input: Atherogenic dyslipidemia is associated with increased levels of chylomicrons and their remnants containing 3 main components: apolipoprotein B-48, triglycerides and cholesterol ester of intestinal origin.

apolipoprotein B-48

dyslipidemia

apolipoprotein B-48

dyslipidemia


Input: The proteinase activity that converts the membrane-bound form of CD23 into a soluble species (sCD23) is an important regulator of the function of CD23 and may be an important therapeutic target for the control of allergy and inflammation.

inflammation


Input: Only the BD brain demonstrated increased global histone H3 acetylation and hypermethylation of the promotor region for the drebrin-like protein gene.

drebrin-like protein

BD

drebrin-like protein

BD


Input: The haplotype carrying the risk alleles of rs6435326 and two other SNPs (rs1053517 and rs1801318) in NDUFS1 was also nominally associated with percentage of weight gain (T-C-G vs A-T-A, P = 0. 005).

weight gain


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

TRH

drinking


Input: Increased TLR2 and TLR4 expression correlated with BMI, homeostasis model assessment-insulin resistance (HOMA-IR), glucose, A1C, N (epsilon)-(carboxymethyl) lysine (CML), and free fatty acid (FFA).

insulin resistance


Input: An equivalent therapeutic plasmid weight of 10 microgram ALP plasmid in the same 500 microliter of liposomes, correlated to around 52-60% of alkaline phosphatase-positive cells in the squamous layer of the esophagus at 24 h. Administration of SOD2-PL prior to irradiation mediated a significant decrease in induction of cytokine mRNA by radiation and decreased apoptosis of squamous lining cells, micro-ulceration, and esophagitis.

esophagitis

esophagitis


Input: It is associated in 85% of cases with the t (11; 22) (q24: q12) chromosomal translocation that generates fusion of the 5' segment of the EWS gene with the 3' segment of the ETS family gene FLI-1.

EWS gene

chromosomal translocation


Input: In the present study, we demonstrate that on the mRNA level hypoxic stimulation of HepG2 cells led to (i) an induction of the positive AP reactants alpha 1-antitrypsin, alpha 1-antichymotrypsin, complement C3, haptoglobin, and alpha 1-acid glycoprotein; (ii) a down-regulation of the negative AP reactant albumin; (iii) an up-regulation of the negative AP reactant transferrin; and (iv) unchanged levels of the positive AP reactants alpha-and beta-fibrinogen as well as hemopexin.

hemopexin

hypoxic


Input: Our report of the first Indonesian patient with clinically Bruck syndrome, confirms the role of causative recessive FKBP10 mutations in this syndrome.

Bruck syndrome

Bruck syndrome


Input: Cerebrospinal fluid (CSF) from 450 children with suspected meningitis was tested with ICT, and results were compared with CSF culture, latex agglutination test (LAT) and/or polymerase chain reaction (PCR).

LAT

meningitis


Input: Abnormal T4 binding to T4-binding prealbumin (TTR) is a rare cause of euthyroid hyperthyroxinemia, which is transmitted by autosomal dominant inheritance.

TTR

euthyroid hyperthyroxinemia


Input: NPSR1 associations with AUD and alcohol use differed by sex.

alcohol use


Input: Of 54 SNPs that met quality control criteria after genotyping in SHS, 4 (rs4733946 and rs7012413 in FGFR1; rs2071616 in FGFR2 and rs7670903 in KLB) showed suggestive association with LDL-C (P = 0. 0006, P = 0. 0013, P = 0. 0055, P = 0. 011, respectively) and 1 (rs2608819 in KLB) was associated with body mass index (P = 0. 011); all with false discovery rate q < 0. 5.

body mass index


Input: Interestingly, none of the other c-KIT or PDGFRA exons showed any abnormalities in our cases.

PDGFRA

abnormalities


Input: Insulin resistance is prevalent in heart failure (HF) patients, and beta2 adrenergic receptors (beta2-AR) are involved in glucose homeostasis.

heart failure


Input: Association of family history of ESRD, prevalent albuminuria, and reduced GFR with incident ESRD.

GFR

albuminuria


Input: We demonstrated that HSP70 suppression by siRNA sensitized NSCLC cells to TRAIL-induced apoptosis by upregulating the expressions of death receptor 4 (DR4) and death receptor 5 (DR5) through activating NF-κB, JNK, and, subsequently, p53, consequently significantly amplifying TRAIL-mediated caspase-8 processing and activity, cytosolic translocation of cytochrome c, and cell death.

translocation


Input: We report a case of mild cavitating leukoencephalopathy associated with a homozygous c. 755A > G (p. Asp252Gly) NDUFS1 mutation in a 7-year old boy.

mild


Input: In this report, 15 patients from 13 unrelated Chinese families with deafness and EVA were analyzed for SLC26A4 using direct sequencing.

EVA

deafness


Input: Novel interactions with serum PTH were identified between: weight and 25OHD; 25OHD and phosphate; and phosphate and thiazide diuretic use.

PTH

weight


Input: In the current study we investigated the efficacy of adenovirus-mediated in vivo NIS gene transfer followed by (131) I and (188) Re administration for the treatment of HCC xenografts.

HCC

adenovirus


Input: In contrast, in patients with alcoholic liver damage, high CD95 ligand messenger RNA expression was found in hepatocytes.

CD95 ligand

alcoholic liver damage


Input: Interleukin 6 receptor antibody inhibits muscle atrophy and modulates proteolytic systems in interleukin 6 transgenic mice.

Interleukin 6 receptor

muscle atrophy


Input: Polymorphism at the insulin gene (INS) variable number of tandem repeat (VNTR) shows variable associations with childhood body mass index (BMI) in different populations.

INS

body mass index


Input: ]), and not kinase dead AKT1 (179M) or AKT3 (177M), was capable of blocking invasion induced by either human epidermal growth factor receptor-2 (HER-2) overexpression or by activation of PI3-K. Taken together, these data indicate that AKT2 mediates PI3-K-dependent effects on adhesion, motility, invasion, and metastasis in vivo.

adhesion


Input: To examine whether polymorphisms within the ESR1, FSHR, ESR2, CYP19A1, and NRIP1 genes are susceptibility factors for human male idiopathic infertility and to test the joint effects of these genes on male reproductive function.

FSHR

infertility


Input: We hypothesized that DNA variants affecting neurodevelopment such as rs4307059 (CDH10/CDH9), rs930752 (NRXN1), rs6265 (BDNF) or rs10868235 (NTRK2) may predispose to completed suicide.

suicide


Input: We now report the first patient with VDEGS due to compound heterozygosity for the common 22q11. 2 microdeletion and a hemizygous SCARF2 splice site mutation.

VDEGS

VDEGS


Input: AIM: Oral squamous cell carcinoma (OSCC) is one of the most common malignancies in India.

AIM

carcinoma


Input: The expression of TP, intratumoral MVDs and percentages of apoptotic cancer cells, expressed by the apoptotic index (AI), of 155 tumors from 155 patients with ESCC were analyzed by immunohistochemistry and compared.

TP

ESCC

TP

ESCC


Input: Presence of BRCA1/2 genes mutations in young women is associated with more aggressiveness of the breast cancer (their 3-years survival is 25, 5% less) and absence of the ER, PR, HER-2 receptors, which is unfavorable prognostic factor in terms of hormone therapy.

aggressiveness


Input: We found evidence for association between GABRA1 and COGA alcohol dependence, history of blackouts, age at first drunkenness, and level of response to alcohol.

drunkenness

drunkenness


Input: In stepwise regression analysis, white blood cell count (P <. 001) and MCP-1 concentrations (P =. 002) were significantly associated with resistin concentrations, independent of hs-CRP, sex, body mass index, presence of the metabolic syndrome, and high-density lipoprotein cholesterol.

body mass index


Input: Polymorphisms of genes for brain-derived neurotrophic factor, methylenetetrahydrofolate reductase, tyrosine hydroxylase, and endothelial nitric oxide synthase in depression and metabolic syndrome.

tyrosine hydroxylase

depression

tyrosine hydroxylase

depression


Input: Mesenteric vein thrombosis in a patient heterozygous for factor V Leiden and G20210A prothrombin genotypes.

prothrombin

Mesenteric vein thrombosis

prothrombin

Mesenteric vein thrombosis


Input: Assessed against these normal tissue-specific methylation states, S100A6 and S100A10 demonstrated tumour-specific hypermethylation in medulloblastoma primary tumours (5 out of 40 and 4 out of 35, respectively, both 12%) and cell lines (both 7 out of 9, 78%), which was associated with their transcriptional silencing.

medulloblastoma

medulloblastoma


Input: This raises the hypothesis that one-carbon nutrients (folate, methionine, and the enzymic cofactors vitamins B2, B6, and B12), which mediate chromosomal stability and DNA methylation, may be protective for type II but not type I endometrial cancer.

cancer


Input: Mice lacking PACAP die suddenly in the second week of life, a phenotype that is exaggerated by mild thermal stress and bares resemblance to human SIDS.

PACAP

mild


Input: This approach revealed several submicroscopic chromosomal aberrations and three different seemingly balanced translocations, resulting in a heterozygous deletion of HACE1, an EWSR1/ERG fusion, and an EWSR1/FLI1 fusion, respectively.

chromosomal aberrations


Input: The data confirm that protein misfolding resulting in intracellular PAO accumulation is sufficient to cause cardiomyocyte death and heart failure.

PAO

heart failure


Input: Here, we aimed to determine the relationship between the annual decline in forced expiratory flow volume in one second (FEV1) and the variant of the glucocorticoid-induced transcript 1 gene (GLCCI1) in Japanese patients with asthma receiving long-term ICS treatment, taking into account the effect of high serum periostin levels, a known association factor of pulmonary function decline and a marker of refractory eosinophilic/Th2 inflammation.

periostin

pulmonary function


Input: This study is the first to show a novel NER mechanism by which drinking GTPs prevents UV-induced immunosuppression and that inhibiting UV-induced immunosuppression may underlie the chemopreventive activity of GTPs against photocarcinogenesis.

NER

drinking


Input: We identified a novel mutation in PRKAG2 causing familial ventricular pre-excitation and severe cardiac hypertrophy.

cardiac hypertrophy


Input: In the AMT group, the corneal opacity was improved (P = 0. 011) and the area of corneal neovascularization was significantly decreased (P = 0. 005) compared with the control group.

AMT

corneal opacity


Input: We hypothesized that DNA sequence variation in genes regulating vitamin D metabolism and signaling pathways might influence variation in coronary artery calcification (CAC).

CAC

coronary artery calcification


Input: In mice, both ligand-dependent activation and knockout of PXR were previously shown to promote hepatic steatosis.

PXR

hepatic steatosis

PXR

hepatic steatosis


Input: In six men with infertility after surgery for cryptorchidism, the adult karyotype and analyses for the DAZ gene, serum follicle-stimulating hormone, luteinizing hormone, and testosterone were performed from a peripheral blood sample.

DAZ

infertility


Input: Further density gradient fractionation of HepG2 membranes revealed that hypoxia caused an increase in total membrane IRP1, with a shift in the membrane-bound fraction from Golgi to an endoplasmic reticulum (ER)-enriched fraction.

hypoxia


Input: Two men with this condition, a 56 year old and a 31 year old presenting with acute SMVT, demonstrated on CT scan, were subjected to a thrombophilia screen consisting of Protein C, S, antithrombin levels, lupus anticoagulant, anticardiolipin antibodies, fibrinogen levels, factor VIII levels, factor V' Leiden' gene mutation, and paroxysmal nocturnal hematuria screen.

SMVT

hematuria


Input: These results suggest the presence of a defective HTLV-I provirus in some seronegative patients with progressive spastic paraparesis, and suggest a pathogenic role of this truncate provirus for a group of TSP/HAM.

TSP

progressive spastic paraparesis


Input: We conclude that Laron dwarfism is due to abnormalities in the gene for GH receptor, which may differ from family to family.

GH receptor

Laron dwarfism

GH receptor

Laron dwarfism


Input: At the time of diagnosis, tumors from the BRCA2 carriers were borderline significantly larger in comparison to the tumors in sporadic cases (P =. 05), but axillary nodal status was not significantly different in the two groups (node-negativity, 63% v 52.

sporadic


Input: The transcription coactivator HTIF1 and a related protein are fused to the RET receptor tyrosine kinase in childhood papillary thyroid carcinomas.

papillary thyroid carcinomas

papillary thyroid carcinomas


Input: These data confirm the effects of rs3813946 on CR2 transcription, identifying the 5' UTR to be a novel regulatory element for the CR2 gene in which variation may alter gene function and modify the development of lupus.

lupus

lupus


Input: Theses results suggest that MRGBP contributes to colorectal carcinogenesis through rendering advantages in cell proliferation and/or division of cancer cells.

MRGBP

carcinogenesis


Input: Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies.

HFE gene

sporadic


Input: The patients with ESCS and GFS and 9 of the 20 unrelated patients with CPRD had mutations in the NR2E3 gene.

ESCS

ESCS


Input: On the other hand, PRPS1 mutations cause PRPP synthetase superactivity associated with hyperuricemia and gout, sometimes including neurodevelopmental abnormalities.

abnormalities


Input: We found consistently significant associations of HLA-DP rs3077 and rs9277535 with increased risks of cervical cancer (dominant genetic model: adjusted OR = 1. 51, 95% CI = 1. 32-1. 71 for rs3077; adjusted OR = 1. 29, 95% CI = 1. 12-1. 49 for rs9277535).

HLA-DP

cervical cancer


Input: The synergistic effect of rs7927894 [T] and FLG mutations on eczema risk as well as the association of both variants with eczema-associated atopic asthma and hay fever point to an involvement of rs7927894 [T] in a functional pathway that is linked to the barrier defect.

FLG

hay fever


Input: Atlastin nucleotide variations were detected by direct sequencing of all 14 exons in 70 autosomal dominant (AD), 16 single sibship and 14 sporadic spastic paraplegia patients.

Atlastin

sporadic


Input: The greatest protective effect against overweight was seen in those with the combined genotype non-UCP2-866GG and non-UCP3-55CC, as compared with those carrying both UCP2-866GG and UCP3-55CC (OR, 0. 60; 95% CI, 0. 38-0. 95; P = 0. 030).

overweight


Input: The CYP27B1 gene, which encodes the 1-α-hidroxylase and involved in the 1, 25-dihydroxyvitamin D synthesis, was recently associated to type-1 diabetes, autoimmune disorders and treatment response in HCV.

CYP27B1 gene

diabetes, autoimmune


Input: Three previously undescribed DNA viruses were also detected, a parvovirus and two viruses related to TT virus (TTV).

TTV

parvovirus


Input: Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.

anemia

anemia


Input: The VGluT1 mRNA/VGAT mRNA ratio was unchanged in schizophrenia, as was the ratio of complexin 2 mRNA to complexin 1 mRNA (related to synaptic vesicle fusion in excitatory and inhibitory terminals, respectively).

schizophrenia

schizophrenia


Input: Somatic deletions seem to constitute the second hit in SDHB-related renal neoplasia, while SDHx alterations do not appear to be primary drivers in sporadic tumorigenesis from tissues affected by SDH deficiency.

SDHB

hit


Input: We present here two families with ALSG associated with missense mutations (R80S and G138E, respectively) affecting highly conserved residues in FGF10.

ALSG

ALSG


Input: The tissue microarray was informative for IHC staining, in which the MIF expression in gastric cancer tissues was higher than that in adjacent non-cancer normal tissues (P < 0. 001), and high level of MIF was related to poor tumor differentiation, advanced T stage, advanced tumor stage, lymph node metastasis, and poor patient survival (P < 0. 05 for all).

MIF

gastric cancer


Input: Several sarcoma groups are associated with a tumor-specific translocation involving EWS.

EWS

translocation


Input: Pak1 in the cytoplasm was an independent prognostic marker, indicating increased recurrence rate (HR, 1. 79; 95% CI, 1. 17-2. 74; P = 0. 0068) and breast cancer mortality (HR, 1. 98; 95% CI, 1. 14-3. 46; P = 0. 016) for patients randomized to no adjuvant treatment.

breast cancer

breast cancer


Input: In contrast to hMLH1 and hMSH2, little is known about the overall involvement of hMSH6 in colorectal cancer.

colorectal cancer

colorectal cancer


Input: In the younger cohort, body weight, BMI, fat mass and waist circumference were significantly higher in female variant carriers of the IGF-I polymorphism.

IGF-I

body weight


Input: It was shown that loss of NFIA results in hydrocephalus and agenesis of the corpus callosum and that NFIB deficiency leads to neurological defects and to severe lung hypoplasia, whereas Nfic knockout mice exhibit specific tooth defects.

Nfic

hydrocephalus