Input: We have generated a murine model of the t (8; 21) translocation by retroviral expression of AML1-ETO in purified hematopoietic stem cells (HSC).

translocation


Input: Allele 1 of the IL-1RN polymorphism was significantly increased in patients compared with controls (72. 0 vs. 63. 0%; p = 0. 029, Pc = 0. 029), in severe cases compared with controls (81. 9 vs. 63. 0%; p = 0. 002, Pc = 0. 004), in idiopathics compared with controls (82. 4 vs. 63. 0%; p = 0. 002, Pc = 0. 006), and in severe cases compared with mild cases (81. 9 vs. 67. 5%; p = 0. 023, Pc = 0. 046).

mild


Input: This effect of hypoxia provides a novel mechanism to increase VEGFA expression in prostate cancer cells.

VEGFA

hypoxia


Input: Cardiac syndrome X (CSX) is defined by typical chest pain, ST segment depression on ECG and normal coronary angiography.

CSX

chest pain


Input: The majority of these mice displayed severe hypertrophy (heart-to-body weight ratios & gt; 2-fold greater in the Rac1 mice) and died from overt heart failure between days 14 and 17.

heart failure

heart failure


Input: T2DM patients with RBP4 T-179G TT genotype showed lower waist-to-hip ratio (WHR), FPG and FINS values compared with that in the TG + GG genotype individuals.

waist-to-hip ratio


Input: Cigarette smoking is common in cannabis users, but it was not associated to PENK SNPs as also validated in another cohort (N & #8202; = & #8202; 247 smokers, N & #8202; = & #8202; 312 non-smokers).

PENK

cannabis

PENK

cannabis


Input: Single-marker analysis revealed a significant association of FOXP3 C-2383T and FCRL3 C-169T, independently, with endometriosis-related infertility, regardless of the stage of the disease.

infertility


Input: Trans-activation-responsive DNA-binding protein 43 (TDP-43) is a component of pathological inclusions in amyotrophic lateral sclerosis and several forms of sporadic and familial frontotemporal lobar degeneration.

DNA-binding protein

amyotrophic lateral sclerosis


Input: Data are insufficient to recommend the routine use of p53, ras, thymidine synthase, dihydropyrimidine dehydrogenase, thymidine phosphorylase, microsatellite instability, 18q loss of heterozygosity, or deleted in colon cancer (DCC) protein in the management of patients with colorectal cancer.

dihydropyrimidine dehydrogenase

microsatellite instability


Input: Phosphorylated Shc is associated with FAK in the anaplastic astrocytoma biopsy samples and in astrocytoma cells overexpressing FAK in vitro but not in nonneoplastic brain biopsy samples.

FAK

anaplastic astrocytoma


Input: IGF is well tolerated, though there may be overgrowth of the lymphoid tissues and the kidneys.

IGF

overgrowth


Input: Interestingly, in Asian patients the frequencies of EGFR mutations were similar in never smokers and in the cohorts with less than 45pack-year histories of smoking and only decreased in the 45pack-year plus cohort.

EGFR

smoking


Input: The FTO rs9939609 variant was associated with overweight/obesity (OR 1. 40, 95% CI 1. 21-1. 63, P < 0. 001).

FTO

overweight


Input: Some ovarian cancer cells were found in a G0 quiescent state, with the highest fraction in a line with an amplified Mirk gene.

Mirk

ovarian cancer

Mirk

ovarian cancer


Input: GRK2 deletion in the preimplantation embryo with EIIa-Cre (germline null) resulted in developmental retardation and embryonic lethality between embryonic day 10. 5 (E10. 5) and E11. 5.

developmental retardation


Input: Present results show that VEGF plasmid treatment after stroke can significantly reduce infarct volume and enhance striatal neurogenesis in adult rat brain.

VEGF

infarct


Input: Consistent with this result, we find that two mothers of children with TBS, who have epilepsy but are otherwise healthy, are low-level (10% and 27%) mosaic carriers of pathogenic KCNH1 mutations.

TBS

TBS


Input: Using messenger RNA (mRNA) in situ hybridization, we investigated estrogen receptor-beta (ERbeta) mRNA levels in normal mammary, benign breast tumor (BBT), breast cancer (BC), and metastatic lymph node tissues to verify the role of ERbeta in BC development and progression.

estrogen receptor

benign breast tumor


Input: To this end reverse transcription-polymerase chain reaction (RT-PCR) was performed for interferon (IFN) gamma, interleukin (IL)-2, IL-4, IL-5, IL-10, IL-12 (p35 and p40), and transforming growth factor (TGF beta 1) in snap-frozen cervical biopsies, which were tested for the presence of high risk HPV DNA and histologically classified from normal to invasive carcinoma (n = 40).

invasive carcinoma


Input: mRNA and protein expression of PUMA in sporadic colorectal cancer.

PUMA

sporadic


Input: A survey of DNA from 85 colorectal tumours revealed that one with extensive microsatellite instability (RER + phenotype) has mutations in both alleles of CDX2.

microsatellite instability


Input: Recent data suggest that cyclin D3 may be deregulated in extranodal non-Hodgkin' s lymphomas (NHLs) as a consequence of the t (6; 14) (p21. 1; q32. 3) translocation.

cyclin D3

translocation


Input: Detection of the t (11; 18) API2/MALT1 translocation associated with gastric MALT lymphoma in routine formalin-fixed, paraffin-embedded small endoscopic biopsy specimens by robust real-time RT-PCR.

translocation


Input: On, multivariate analysis, BI was significantly affected by MMSE, APOE, IL-1 & #945;, IL-6, LIF and TNF-& #945; levels (p & lt; 0. 05) but not by delirium.

LIF

delirium

LIF

delirium


Input: Variations in the serine protease 1 (PRSS1) gene encoding human cationic trypsinogen have been conclusively associated with autosomal dominant hereditary pancreatitis and sporadic nonalcoholic chronic pancreatitis.

sporadic


Input: Pharmacologic inhibition of AMCase with ip allosamidin inhibited both OVA induced increases in esophageal eosinophilic inflammation and OVA induced esophageal remodeling (fibrosis, epithelial basal zone hyperplasia, extracellular matrix deposition of fibronectin).

AMCase

fibrosis


Input: Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

autosomal recessive centronuclear myopathy

autosomal recessive centronuclear myopathy


Input: A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population.

CARASIL syndrome

CARASIL syndrome


Input: Since that time, BRCA1 has been linked to several key nuclear functions connected with the prevention of genomic instability.

genomic instability


Input: Although sequence variants (SVs) in THAP1 have been reported in rare cases of BSP, the genetic causes of this focal dystonia remain largely unknown.

BSP

focal dystonia


Input: Our goal was to examine the joint effects of MC1R variants and other potential risk factors [total nevi, dysplastic nevi, pigmentary traits (skin, hair and eye color), skin reactions to sunlight, and degree of sun exposure] on CDKN2A penetrance.

eye color


Input: We investigated the relationship between a single nucleotide polymorphism (SNP) rs4803455 in TGFB1 and atherosclerosis identified by the presence of carotid plaque and increased intima-media thickness (IMT) in an older Chinese population.

plaque


Input: Our findings suggest that presence of a phenolic group in 4-HEB is critical for its selective toxicity towards melanoma cells.

HEB

melanoma


Input: Our results also show that, like EGCG, the synthetic analog inhibits hypoxia-and serum starvation-induced production of VEGF mRNA in breast cancer cells.

VEGF

hypoxia


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

ectopic calcification


Input: We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry.

RARB

ASD

RARB

ASD


Input: Three risk loci shared with ankylosing spondylitis and psoriasis (the MHC class I region, ERAP1 and IL23R and the MHC class I-ERAP1 interaction), as well as two loci shared with inflammatory bowel disease (IL23R and IL10) implicate shared pathogenic pathways in the spondyloarthritides and Behçet' s disease.

spondylitis


Input: Since anoctamin 1 ANO1 (TMEM16A) was found to be a molecular component of Ca (2 +)-activated Cl (-) channels, its role in tumorigenesis has gained attention at a fast pace.

tumorigenesis


Input: The cytochrome P-450 (CYP) 2C9 (CYP2C9) enzyme is involved in the metabolism of several drugs, including possibly aspirin, and such carcinogens as smoking-related polycyclic aromatic hydrocarbons.

smoking


Input: The analysis revealed that highly invasive breast cancer cells produce high amounts of hyaluronan and express preferentially HAS2 mRNA, whereas less invasive breast cancer cells produce low amount of hyaluronan and express HAS1 and HYAL1 mRNAs.

invasive breast cancer


Input: However, such hypersensitivity to CPT observed with RAD18-/-cells was limited to only the S phase due to the absence of the RAD18 S phase-specific function.

hypersensitivity


Input: Gypenosides causes DNA damage and inhibits expression of DNA repair genes of human oral cancer SAS cells.

SAS

oral cancer


Input: The early-onset dysthymics showed a higher number of persons who had never married, who presented a more traumatic and frustrating childhood background, and who had a higher rate of DST non-suppressors and blunted TSH responses after TRH administration during the period of their double depression.

TRH

depression

TRH

depression


Input: Recently, however, a homozygous nonsense DIAPH1 mutation (c. 2332C4T; p. Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis.

developmental delay

developmental delay


Input: Here, we report that epidermal growth factor (EGF) increases the expression of claudin-3 in human colorectal adenocarcinoma HT-29 cells.

colorectal adenocarcinoma


Input: We conclude that most but not all 12p cytogenetic abnormalities in childhood ALL involve ETV6, and that rearrangement of ETV6 is associated with a favorable treatment outcome.

cytogenetic abnormalities


Input: Treatment with 9-cis retinoic acid significantly inhibited Wnt5b expression in myometrial SMC but not in their leiomyoma counterparts.

leiomyoma

leiomyoma


Input: our proof-of-concept study suggests investigation of CCN1 as a novel, endogenous " parent compound " for chemotaxis modulation and of cyclic RGD peptides as a class of partially CCN1-mimetic drugs with immediate potential for clinical evaluation in cardiac diseases associated with chronic pathogenic inflammation.

cardiac diseases


Input: This study documents for the first time that psychosine-induced cell death is mediated via the sPLA2 signaling pathway and that inhibitors of sPLA2 may hold a therapeutic potential for protection against oligodendrocyte cell death and resulting demyelination in Krabbe disease.

demyelination


Input: A positive correlation was found between BMPR2 transcripts and hyperandrogenism in FF of PCOS patients.

hyperandrogenism

hyperandrogenism


Input: The successful construction of recombinant human BIMS adenovirus (Ad-BIMS) was demonstrated by Western blot.

BIMS

adenovirus


Input: Here, we focus on the molecular interactions between these NOD proteins and other intracellular molecules to elucidate the mechanisms by which NOD1 and NOD2 contribute to the maintenance of mucosal homeostasis and the induction of mucosal inflammation.

mucosal inflammation


Input: Proliferative LN (PLN) (N = 12), nonproliferative lupus nephritis (NPLN) (N = 5), AIN (N = 6), CAN (N = 4), and normal kidneys (N = 3) were studied.

PLN

lupus nephritis


Input: No obvious correlation was observed between the position or type of the RSK2 mutations and the severity or particular clinical features of CLS.

CLS

CLS


Input: Taken together with our present study, this suggests that HO-1 induction in human hepatocytes would be a good marker of the occurrence of metabolism-based drug-induced hepatotoxicity and IDT caused by the formation of electrophilic reactive metabolites.

drug-induced hepatotoxicity

drug-induced hepatotoxicity


Input: Together, our findings showed that BRCA1 suppressed TWIST and EMT, inhibited LSC dedifferentiation, and repressed expansion of basal stem cells and basal-like tumors.

TWIST

dedifferentiation


Input: 54 variants of the HGSNAT gene have been identified in MPS IIIC patients thus far, 22 of which are missense mutations.

HGSNAT

MPS IIIC

HGSNAT

MPS IIIC


Input: TRPV1 and TRPA1 channels transduce pain and itch, whereas TRPM8 transduces cold.

cold


Input: 1alpha, 25 (OH) 2D (3) induced the expression of E-cadherin and other adhesion proteins (occludin, Zonula occludens [ZO]-1, ZO-2, vinculin) and promoted the translocation of beta-catenin, plakoglobin, and ZO-1 from the nucleus to the plasma membrane.

E-cadherin

translocation


Input: We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient.

Jeune syndrome

Jeune syndrome


Input: In STZ rats, atorvastatin feeding (20 mg/kg/d, 7 weeks), normalized vascular dysfunction as analyzed by isometric tension studies, levels of circulating endothelial progenitor cells (FACS-analysis), superoxide formation (assessed by lucigenin-enhanced chemiluminescence and dihydroethidium staining), vascular levels of the phosphorylated vasodilator-stimulated phosphoprotein (P-VASP), tyrosine nitration of the prostacyclin synthase, expression of GTPCH-I, dihydrofolate reductase and eNOS, translocation of regulatory NADPH oxidase subunits rac1, p47phox and p67phox (assessed by Western blot) and vascular tetrahydrobiopterin levels as measured by HPLC.

prostacyclin synthase

translocation


Input: Linkage of bipolar disorder and recurrent depression to the DRD3 gene was tested using a series of autosomal dominant and recessive models with varying penetrance levels.

recurrent depression

recurrent depression


Input: U266 cells treated with 20 microg/ml cerulenin for 12 and 24 h also showed early sign of apoptosis with 56. 9% and 69. 3% Annexin V (+)/PI (-) cells, and late apoptotic and necrotic cells with 3. 2% and 17. 6% Annexin V (+)/PI (+) cells.

Annexin V

necrotic


Input: Thus, we aimed to study the expression of Ago2 in 363 primary GC, 8 corresponding lymph node metastases and 10 non-neoplastic surrounding gastric epithelium tissues by immunohistochemical analyses and tissue microarray.

non-neoplastic


Input: All interventions led to significantly reduced apelin serum concentrations which significantly correlate with improved insulin sensitivity, independently of changes in BMI.

apelin

insulin sensitivity


Input: Moreover, the increase of the MIF mRNA + cells was highly correlated with the severity of the disease (number of MIF mRNA + cells/mm (2), mild: 2834 +/-382, moderate: 3569 +/-123, severe: 3881 +/-118, P < 0. 01).

MIF

mild


Input: In the present study we investigated whether T cell secreted VEGF and inflammatory cytokines were modulated by cigarette smoke and by a hypoxic microenvironment.

VEGF

hypoxic


Input: Data on adverse events and DAT1 3' genotypes were combined from two, double-blind, placebo-controlled, crossover studies of MPH conducted in child psychiatric outpatient clinics in Montreal and Washington, D. C.

blind


Input: We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.

LADD syndrome

LADD syndrome


Input: In addition, we demonstrate that while stress increased NMDA NR2B-mediated synaptic transmission, known to be implicated in depression, Reelin overexpression significantly reduced it.

Reelin

depression

Reelin

depression


Input: In this report, we show that HER receptor tyrosine kinases 1 through 4 are expressed in the CWR-R1 recurrent prostate cancer cell line; their stimulation by epidermal growth factor (EGF) and heregulin activates downstream signaling, including mitogen-activated protein kinase and phosphatidylinositol-3 kinase and Akt pathways.

EGF

recurrent prostate cancer


Input: These sites correlated with genomic DNA breakpoints in both AML1 and ETO, thus implicating them in the de novo 8; 21 translocation.

translocation


Input: Phobic disorder was associated with a lower prolactin response to both inhibitory and stimulatory challenges.

prolactin

Phobic disorder

prolactin

Phobic disorder


Input: We determined and compared their blood pressure, brachioradial arterial stiffness as determined by pulse wave velocity (PWV), fasting total cholesterol, serum MBL level, and MBL genotype.

MBL

arterial stiffness


Input: Haploinsufficiency for ceramide synthase 2 (CerS2), the dominant isoform in the liver that preferentially makes very-long-chain (C22/C24/C24: 1) ceramides, led to compensatory increases in long-chain C16-ceramides and conferred susceptibility to diet-induced steatohepatitis and insulin resistance.

insulin resistance


Input: Moreover, sIL-15 levels did not correlate with age (r = 0. 033, p = 0. 685), and they did not display a clear circadian rhythm in healthy donors, with the median values for IL-15 close to zero at each time tested.

circadian rhythm


Input: Therefore, we examined in detail the kinetics of (Ca2 +, Mg2 +) ATPase activity in erythrocyte plasma membranes from 11 patients with FBH from 7 families, 5 patients with untreated primary hyperparathyroidism, and equal numbers of age-and sex-matched normal subjects.

primary hyperparathyroidism


Input: In addition, amyrin octanoate reduced thermal and mechanical hyperalgesia induced by bradykinin and phorbol myristate acetate in rats, without affecting similar responses caused by prostaglandin E (2).

bradykinin

mechanical hyperalgesia

bradykinin

mechanical hyperalgesia


Input: We found that restoration of ACE2 protein suppressed cell proliferation, motility and increased the sensitivity to hypoxia induced injury in BxPC3 and SW1990 cell lines.

hypoxia


Input: In addition, coadministration of JTP-4819 and substance P, arginine-vasopressin or thyrotropin-releasing hormone (at doses at which each drug alone did not prolong the retention time) improved the retention time of rats with scopolamine-induced amnesia.

arginine-vasopressin

amnesia

arginine-vasopressin

amnesia


Input: The expression of ANP and BNP in the ventricles of hearts with cardiac amyloidosis, which is hemodynamically similar to restrictive cardiomyopathy, is not yet known.

BNP

restrictive cardiomyopathy


Input: We showed that ZAP70 (+) cells had better adhesion/migration capacities and only ZAP70 (+) patient cells responded to microenvironment contact by CXCR4 downregulation.

adhesion


Input: These results indicate that HBc may prevent hepatocytes from TRAIL-induced apoptosis by blocking DR5 expression, which in turn contributes to the development of chronic hepatitis and HCC.

chronic hepatitis


Input: This review will highlight the major findings and recent advances in the study of ClC-3 Cl (-) channels in the cardiovascular system and discuss their important roles in cardiac and vascular remodeling during hypertension, myocardial hypertrophy, ischemia/reperfusion, and heart failure.

vascular remodeling


Input: However, among patients with hyperamylasemia, those with CFTR or SPINK-1 mutations had 648 +/-216 U/l amylase levels compared with 232 +/-28 U/l for those without (P = 0. 025).

CFTR

hyperamylasemia


Input: We found that prostate tumors from the Low-T mutant mice share a similar gene expression profile as androgen-independent prostate tumors from these mutant mice, which includes the deregulated expression of several genes that are up-regulated in human hormone-refractory prostate cancer, such as Vav3 and Runx1.

prostate cancer

prostate cancer


Input: This highly proliferative, Sox2/Olig2 coexpressing dysplastic cell type is > 10-fold enriched in the hyperplastic polyps compared with control SVZ and most likely causes the polyp formation.

polyp


Input: We performed RT-PCR to detect the expression of hTERT mRNA in 78 patients with HCC, 10 with liver cirrhosis (LC), 12 with chronic hepatitis (CH), and 34 healthy individuals without any liver diseases and cancers, and statistically analyzed the association with clinical parameters which include age, sex, etiology, Child classification, underlying liver disease, biochemical data, alpha-fetoprotein (alpha-AFP) number and size of tumor, and histological differentiation of HCC regarding HCC patients.

HCC

liver disease


Input: Hematopoietic potential and retroviral transduction of CD34 + Thy-1 + peripheral blood stem cells from asymptomatic human immunodeficiency virus type-1-infected individuals mobilized with granulocyte colony-stimulating factor.

asymptomatic


Input: In present study, we investigated whether BANCR was involved in the development of gastric cancer cells via regulation of NF-κB1.

BANCR

gastric cancer


Input: These findings support the existence of a role for BRM in the pathophysiology of schizophrenia.

BRM

schizophrenia

BRM

schizophrenia


Input: This study was designed to investigate the relationship of the melanocortin-1 receptor (MC1R) genotype to CMM risk, controlled for pigmentation phenotype.

CMM

pigmentation


Input: Preoperative blood samples were obtained from 44 esophageal cancer patients and were subjected to CEA-specific reverse transcriptase-polymerase chain reaction (RT-PCR) assay and methylation-specific polymerase chain reaction (MSP) assay for p16, E-cadherin and RARbeta genes.

MSP

esophageal cancer


Input: We determined the genetic prevalence of Wilson' s disease in the United Kingdom by sequencing the entire coding region and adjacent splice sites of ATP7B in 1000 control subjects.

Wilson' s disease

Wilson' s disease


Input: In addition, experiments with AID-deficient mice clearly showed that AID is required not only for the c-myc/IgH translocation but also for the malignant progression of translocation-bearing lymphoma precursor cells, probably by introducing additional genetic hits.

AID

translocation


Input: AML1/Runx1, originally identified as a gene located at the breakpoint of the t (8; 21) translocation, encodes one of the two subunits forming a heterodimeric transcription factor.

translocation


Input: First-degree relatives with a PROS1 gene defect had a 5. 0-fold higher risk of thrombosis (95% confidence interval, 1.

thrombosis

thrombosis


Input: XPA and XPD and others can cause childhood XP neurological disease with widespread neuronal loss, axonal sensorimotor neuropathy, and dwarfing.

XPA

axonal sensorimotor neuropathy


Input: Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.

22q13 deletion syndrome

22q13 deletion syndrome


Input: Expression and differential response to haloperidol treatment of Cyclon/CCDC86 mRNA in schizophrenia patients.

schizophrenia

schizophrenia


Input: This study provides further evidence for a role for ALDH1A1 in alcohol consumption behaviour, including problem drinking and possibly alcohol dependence, in our Finnish population.

problem drinking

problem drinking


Input: Dietary administration of 600 ppm SFN and 1. 0% DBM also reduced colon tumor numbers by 80% (P = 0. 016) and 60% (P = 0. 103), respectively, whereas the combination of SFN and DBM treatment blocked the colon tumor development (P = 0. 002).

SFN

colon tumor


Input: Our results showed that low expression of miR-221/222 sensitized glioma cells to temozolomide (TMZ); in addition, ectopic expression of PUMA by pcDNA-PUMA had a similar effect.

PUMA

glioma


Input: Replication-defective adenovirus containing the human LPL cDNA driven by a cytomegalovirus promoter (Ad. hLPL) efficiently transduced CHO-ldlA7 cells in vitro, inducing in these cells the production of bioactive LPL (73 mU/ml).

LPL

adenovirus


Input: Most CCSKs display few genomic aberrations, and no general underlying mechanism for tumor initiation has yet been identified, although a YWHAE-NUTM2B/NUTM2E fusion gene has been observed in a minority of cases.

tumor initiation


Input: Here we found that GAT1 (-/-) mice showed a lower level of depression-and anxiety-like behaviors in comparison to wild-type mice.

depression

depression


Input: Based on these two cases and a review of the literature it is concluded that the development of t-APL with the balanced translocation t (15; 17) is related to previous treatment with cytostatic drugs targeting DNA topoisomerase II and that additional abnormalities of the long arms of chromosomes no.

DNA topoisomerase II

arms


Input: Thus, glutamine deprivation may have no direct effect on VEGF-dependent angiogenesis, compared to hypoxia or to glucose deprivation, and may instead be detrimental to cancer progression by antagonizing ischemia-induced stresses.

VEGF

hypoxia


Input: In the analyses of the GDM-related phenotype, only the risk allele of KCNQ1 rs2237895 was significantly associated with a high-level insulin sensitivity oral glucose tolerance test among patients with GDM (P = 0. 0003, 0. 004, and 0. 05 for codominant, dominant, and recessive models, respectively).

insulin sensitivity


Input: Total regression of brain metastases in non-small cell lung cancer patients harboring EGFR mutations treated with gefitinib without radiotherapy: two case reports.

EGFR

regression


Input: Seven FIHP families were ascertained and venous blood samples obtained from 35 members (17 affected and 18 unaffected) for DNA sequence analysis of the MEN1 gene.

FIHP

FIHP


Input: In a patient with orthostatic intolerance and her relatives, we measured postural blood pressure, heart rate, plasma catecholamines, and systemic norepinephrine spillover and clearance, and we sequenced the norepinephrine-transporter gene and evaluated its function.

norepinephrine-transporter

orthostatic intolerance

norepinephrine-transporter

orthostatic intolerance


Input: The level of circulating VEGF mRNA, however, did not significantly correlate with tumor size, cellular differentiation, capsule, daughter nodules, vascular permeation, necrosis and hemorrhage of tumors.

VEGF

necrosis


Input: Therefore, we examined different components of an important pathway in angiogenesis: hypoxia-inducible factors (HIFs); HIF regulators von Hippel-Lindau (VHL) and prolyl 3-hydroxylase (PHD3); and HIF target genes vascular endothelial growth factor A (VEGF-A) and vascular endothelial growth factor receptor 2 (VEGFR-2).

VEGF-A

hypoxia


Input: These results suggest that mis-targeting of RAG proteins to cRSSs within TEL and AML1 translocation regions might be responsible for the t (12; 21) (p13; q22) chromosomal translocation not bearing Ig/TCR regions.

chromosomal translocation


Input: Additionally, we used FISH to check chromosomal aberration in the purified ECs and found that some of the ECs had only one fusion signal for the green IGH probe and the red BCL2 probe in contrast to typical t (14; 18) (q32; q21) translocation with two fusion signals.

translocation


Input: The translocation results in the fusion of two genes, collagen type I alpha 1 (COL1A1) and platelet-derived growth factor B-chain (PDGFB).

PDGFB

translocation


Input: Glycosaminoglycans (GAGs) are key players in tissue repair and fibrosis, and we investigated whether PF is associated with changes in the expression and structure of GAGs as well as in the expression of β1, 3-glucuronosyltransferase I (GlcAT-I), a rate-limiting enzyme in GAG synthesis.

GlcAT-I

fibrosis


Input: This study paves the way for an alternative gene therapy treatment of status epilepticus, and provides the rationale for studies of AAV-TREK-M' s effect on spontaneous seizures in chronic models of temporal lobe epilepsy.

TREK

temporal lobe epilepsy


Input: The results strongly implicated corneal HIF-1α as a component of the inflammatory and neovascular cascade initiated by hypoxic and further suggested that HIF-1α was a proximal regulator of VEGF expression in this model.

VEGF

hypoxic


Input: In the striatum of the knock-in mice, DARPP-32 phosphorylation at Thr 34, which is important for the regulation of depression-related behaviour, is increased.

depression

depression


Input: Immunohistochemistry also revealed increased cytoplasmic GRP78 expression with progression along the normal tissue-adenoma-carcinoma sequence.

carcinoma


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

waist to hip ratio


Input: We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined.

APRT

APRT deficiency

APRT

APRT deficiency


Input: Results were analyzed in relation to ERG abnormalities created in anesthetized non-human primates by intravitreal application of glutamate analogues that selectively suppress retinal on-or off-pathway bipolar cell activity.

ERG

abnormalities


Input: On the human transcriptome, we observed reduced AGO binding and functional mRNA de-repression of miR-122 targets during virus infection.

AGO

virus infection


Input: Anti-elafin antibody showed a strong reaction with the subcorneal region of the epidermis in patients with Behçet' s syndrome, Sweet' s syndrome, pyoderma gangrenosum, cutaneous allergic vasculitis and acute bacterial infection (cellulitis), but showed no reaction in skin from patients with dermal lymphocyte infiltration such as is seen in chronic prurigo and discoid lupus erythematosus.

elafin

discoid lupus erythematosus


Input: Astrocytoma cells that were transfected to express the dominant inhibitory mutant H-Ras (N17) demonstrated a reduction in VEGF secretion under both normoxic and hypoxic conditions.

VEGF

hypoxic


Input: Recently, breakpoint region genes for the 8; 21 translocation in chromosome 8 and 21 have been isolated, 48-50 and have been named AML1 and ETO, respectively.

translocation


Input: This protection was characterized by decreased lung pathological abnormalities and the fibrotic gene expression of Type I collagen, Type III collagen, α-smooth muscle actin, and connective tissue growth factor.

connective tissue growth factor

abnormalities


Input: We aimed to examine personality traits of remitted patients with schizophrenia as compared to symptomatic patients and healthy controls and to investigate whether the COMT Val158Met polymorphism influences their personality.

COMT

personality traits


Input: The variant genotypes of LPL + 495GG and PvuII CC were associated with a significantly increased risk of childhood obesity [adjusted odds ratio (OR) = 2. 39, 95% CI = 1. 09-5. 23 for + 495 GG; adjusted OR = 2. 00, 95% CI = 1. 04-3. 83 for PvuII CC], compared with their wild-type genotypes, respectively.

LPL

childhood obesity


Input: It is now shown that a novel t (6; 14) (p21; q32) translocation is present in 1 of 30 MM cell lines and that this cell line uniquely overexpresses cyclin D3.

cyclin D3

translocation


Input: However, infiltration of leukocytes and MPO activity in the lungs and pancreas during acute pancreatitis was decreased in S100A9-deficient mice and associated with significantly lower serum amylase and lipase activities as well as reduced intrapancreatic TAP-levels.

TAP

acute pancreatitis


Input: In addition some thyroid tumors exhibit inappropriate activation of phospholipase C (PLC), a signaling pathway that has been implicated in the growth and dedifferentiation of thyroid cells.

PLC

dedifferentiation


Input: In osteosarcoma tissues, immunohistochemical results revealed that heparanase expression had a close correlation with that of HIF-1α and they had a strong relation with presence of pulmonary metastasis (P < 0. 05). Heparanase-positive samples had higher microvessel density (MVD) than heparanase-negative samples.

MVD

pulmonary metastasis


Input: The goal of this study was to compare hepatic histopathologic features and hepatic iron concentration (HIC) among patients with phenotypic hemochromatosis and different HFE genotypes.

HIC

hemochromatosis


Input: Tumours were investigated by means of immunohistochemistry, RT-PCR (EWSR1-FLI1, EWSR1-ERG and EWSR1-FEV transcripts), FISH analysis (EWSR1 break-apart and specific EWSR1-FEV translocation) and spectral karyotyping (SKY).

SKY

translocation


Input: The autosomal-dominant Noonan syndrome (MIM 163950) is characterized by short stature, typical facial dysmorphology and heart defects.

MIM

heart defects


Input: In the present study, we conducted an immunohistochemical evaluation of PLAG1 and a reverse transcription-polymerase chain reaction (RT-PCR) assay to detect fusion gene transcripts associated with pleomorphic adenoma, including the CTNNB1-PLAG1, LIFR-PLAG1, CHCHD7-PLAG1, TCEA1-PLAG1, HMGA2-FHIT, HMGA2-NFIB, and HMGA2-WIF1 fusion transcripts; this was performed using formalin-fixed paraffin-embedded tumor tissue specimens of 16 cutaneous mixed tumors including one sample with an adenocarcinoma component.

FHIT

pleomorphic adenoma


Input: We studied the genotypic distribution of GSTM1, GSTT1, and GSTP1 polymorphisms between mild malaria (N = 107) and severe malarial anemia (N = 50) in Tanzanian children.

mild


Input: Based on fractionation and immunohistochemical analyses, an upstream kinase for JNK1, SAPK/ERK kinase 1 (SEK1), is constantly present in both the nucleus and cytoplasm throughout ischemia and reperfusion, whereas an upstream kinase for mitogen-activated protein kinase, MAPK/ERK kinase 1, remains in the cytosol.

ischemia


Input: We have developed a LPH (liposome-polycation-hyaluronic acid) nanoparticle formulation modified with tumor-targeting single-chain antibody fragment (scFv) for systemic delivery of small interfering RNA (siRNA) and microRNA (miRNA) into experimental lung metastasis of murine B16F10 melanoma.

LPH

lung metastasis


Input: Indeed, transgenic mice with low activity of ALDH2 exhibited an age-dependent neurodegeneration accompanying memory loss.

neurodegeneration


Input: Intrathecal injection of CXCL13 was sufficient to induce pain hypersensitivity and astrocyte activation via CXCR5 and ERK.

ERK

hypersensitivity


Input: VEGF shRNA interference combined with radiotherapy promotes the radiosensitivity of tumors via improvement of the hypoxic microenvironment.

VEGF

hypoxic


Input: RABL6A, a novel RAB-like protein, controls centrosome amplification and chromosome instability in primary fibroblasts.

RAB

chromosome instability


Input: A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.

phenylalanine hydroxylase

phenylketonuria

phenylalanine hydroxylase

phenylketonuria


Input: Expression of Th1 and Th2 cytokine-associated transcription factors, T-bet and GATA-3, in peripheral blood mononuclear cells and skin lesions of patients with psoriasis vulgaris.

T-bet

skin lesions


Input: Thus, semaphorin 3C/3D signaling is an evolutionarily conserved regulator of ENS development whose dys-regulation is a cause of enteric aganglionosis.

semaphorin 3C

aganglionosis

semaphorin 3C

aganglionosis


Input: Molecular genetic analysis of the P-450C18 gene is three patients from three different families affected with CMO II deficiency has indicated that a point mutation of CGG----TGG (181Arg----Trp) in exon 3 and one of GTG----GCG (386Val----Ala) in exon 7 occur exclusively in the gene of the patients.

CMO II deficiency

CMO II deficiency


Input: Finally, the effects on VEGF gene expression, HIF-1alpha translocation and cell cycle arrest were determined.

translocation


Input: During end stage renal disease (ESRD) inflammatory pathways are activated which may lead to malnutrition inflammation syndrome (MIS).

MIS

malnutrition


Input: The methylation status of APC, THBS1, MGMT, hMLH1 and GSTP1, as determined by methylation specific PCR (MSP), and microsatellite instability (MSI) using three mononucleotide markers were assessed in 40 colorectal adenomas and 36 adenocarcinomas.

microsatellite instability


Input: We analyzed genetic factors, including 14 single nucleotide polymorphisms (SNPs), environmental risk factors (body mass index, age at menarche, pregnancy, age at first birth, breastfeeding, family history of breast cancer, age at menopause, use of hormone replacement therapy, alcohol intake, and smoking), serum hormones and growth factors (estradiol, testosterone, prolactin, insulin-like growth factor 1 [IGF1] and IGF binding protein 3 [IGFBP3]), and mammographic density in 913 women with breast cancer and 278 disease-free controls.

body mass index


Input: TRPM8: from cold to cancer, peppermint to pain.

cold


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

BNP

restrictive cardiomyopathy


Input: To determine the effect of human preterm labor on SIRT6 expression, human fetal membranes were collected from women at preterm at the time of Cesarean section (no labor; n = 9) and from women after spontaneous labor and delivery (n = 9).

preterm labor


Input: We performed a genome-wide association study of 355 750 single-nucleotide polymorphisms (SNPs) in 474 controls and 419 childhood ALL cases characterized by a t (12; 21) (p13; q22)-the most common chromosomal translocation observed in childhood ALL-which leads to an ETV6-RUNX1 gene fusion.

RUNX1 gene

chromosomal translocation


Input: Expression patterns of the hypoxia-related genes osteopontin, CA9, erythropoietin, VEGF and HIF-1alpha in human glioma in vitro and in vivo.

VEGF

hypoxia


Input: Analyses of HLA-DQ alleles in recurrent spontaneous abortion (RSA) couples.

HLA-DQ

recurrent spontaneous abortion


Input: We assessed and compared the HO-1 mRNA expression and apoptosis in the small intestinal mucosa of rats after hemorrhagic shock and resuscitation using the SYBR Green I fluorescence quantitative reverse transcriptase polymerase chain reaction, fluorescein-iso-thiocyanate-annexin V/propidium iodide double staining, and flow cytometry.

annexin V

hemorrhagic shock


Input: A region on human chromosome 11, from 11p11. 2-p13, has been shown to suppress metastasis in rat prostatic carcinoma cells.

prostatic carcinoma


Input: VEGF mRNA was not induced by hypoxia in mutant cells that do not express the HIF-1beta (ARNT) subunit.

VEGF

hypoxia


Input: A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.

permanent neonatal diabetes mellitus

permanent neonatal diabetes mellitus


Input: An association was noted between adult height and the mean in vitro expression value corresponding to an individual' s GH1 promoter haplotype combination (p = 0. 028) although only 3. 3% of the variance of adult height was found to be explicable by reference to this parameter.

height


Input: We genotyped CYP1A1 * 2A, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in a hospital based case-control study including 206 infertile men and 230 healthy fertile (control) subjects.

infertile


Input: The present system could be useful to study the acute induction mechanism (s) of ADM-resistance, which could be relevant to clinical resistance in patients.

ADM

clinical resistance


Input: Heterologous expression of STIM1 p. R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p. P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca (2 +)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation.

Stormorken syndrome

Stormorken syndrome


Input: Multivariable Cox regression models revealed a significant better relapse-free (RFS) and overall survival for the GSTP1 (*) 105 Val (P = 0. 003 and 0. 03, respectively), whereas GSTT1 and GSTM1 genotypes had no significant impact.

regression


Input: ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

Joubert Syndrome

Joubert Syndrome


Input: In western populations, dominant MYOC mutation remains a common cause of primary open-angle juvenile glaucoma and infrequently can be implicated in congenital/infantile or adult-onset forms; identified families should undergo genetic counseling.

MYOC

juvenile glaucoma

MYOC

juvenile glaucoma


Input: Disruption of Pak1 in ApoE (-/-) mice results in reduced plaque burden, significantly attenuates circulating IL-6 and MCP-1 levels, limits the expression of adhesion molecules and diminishes the macrophage content in the aortic root of ApoE (-/-) mice.

plaque


Input: Dual role of apoptosis-associated speck-like protein containing a CARD (ASC) in tumorigenesis of human melanoma.

ASC

tumorigenesis


Input: CC-homozygotes at SNP rs7566605 in the vicinity of INSIG2 lost less weight in this lifestyle intervention.

weight


Input: The expressions of both ANF and collagen III, molecular markers of cardiac hypertrophy, were also increased in banded transgenic rats compared with banded control.

ANF

cardiac hypertrophy


Input: The translocation generated a sterile fusion transcript under the control of the PTK2 promoter, affecting expression of both PTK2 and THOC2 genes.

translocation


Input: All 28 coding exons of OPA1, intron-exon splice sites, 273 bp 5' to exon 1, and two intronic regions with putative function were screened in 94 apparently unrelated white patients of European origin with adOA by single-strand conformational polymorphism (SSCP)-heteroduplex analysis and direct sequencing.

adOA

adOA


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

chemerin

body mass index


Input: Numerous LPL gene mutations have been described as a cause of familial chylomicronemia in various populations.

LPL

familial chylomicronemia

LPL

familial chylomicronemia


Input: As SAMP1/Yit mice were derived from AKR mice, we examined AKR mice and determined that they too have an increased occurrence of gastritis, although they do not develop ileitis.

gastritis


Input: A common deleted region (CDR) in both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) affects the long arm of chromosome 20 and has been predicted to harbor a tumor suppressor gene.

CDR

myelodysplastic syndromes


Input: Here we report a new chromosomal translocation, t (4; 21) (q31; q22) that disrupts the AML1 gene in a 12-year-old boy with newly diagnosed T-cell acute lymphoblastic leukemia (ALL).

chromosomal translocation


Input: This increase was accompanied by the activation of caspases, cytochrome c release, Bcl2-associated X protein (Bax) translocation, myeloid cell leukemia-1 (Mcl-1) downregulation, Bcl-2-associated death promoter (Bad) dephosphorylation, Akt inactivation, and RhoA/Rho-associated coiled-coil containing protein kinase 1/phosphatase and tensin homolog (RhoA/ROCK1/PTEN) activation.

translocation


Input: Then, we examined the expression of HIF-1alpha mRNA and protein, the secretion of VEGF in MiaPaCa2 cells under hypoxic condition with Real-time PCR, Western Blot, ELISA, respectively.

VEGF

hypoxic


Input: A single nucleotide polymorphism fine mapping study of chromosome 1q42. 1 reveals the vulnerability genes for schizophrenia, GNPAT and DISC1: Association with impairment of sustained attention.

GNPAT

schizophrenia

GNPAT

schizophrenia


Input: In conclusion, the present study suggests that the inhibition of pilocarpine-induced seizures may be mediated by stimulation of 5-HT1A and by blockade of 5-HT1B receptors, located probably on the cholinergic terminals.

seizures

seizures


Input: Experimental autoimmune arthritis resembling human rheumatoid arthritis (RA) can be induced in susceptible strains of mice following immunization with type II collagen (CIA).

CIA

autoimmune arthritis


Input: Using combinations of fluorescent reporter transgenes, fluorescence microscopy, and flow cytometry, we identified the local production of dual oxidase 1 (Duox1)-derived H₂O₂ by Tnfa-and Tnfr2-deficient keratinocytes as a trigger for the activation of the master inflammation transcription factor NF-κB, which then promotes the induction of genes encoding pro-inflammatory molecules.

inflammation


Input: In conclusion, the expression pattern of SMN and FUS in fibroblasts cannot serve as a biomarker for sporadic ALS.

FUS

sporadic


Input: The cannabinoid type 2 receptor (CB2) has previously been implicated as a regulator of tumor growth, bone remodeling, and bone pain.

bone pain


Input: The subependymoma tissue microarrays demonstrated tumor expression of p53, MDM2, HIF-1α, topoisomerase II-β, p-STAT3, and nucleolin, but not EGFRvIII, EphA2, IL-13RA2, CMV, CTLA-4, FoxP3, PD-1, PD-L1, EGFR, PDGF-α, PDGF-β, PDGFR-α, PDGFR-β, PTEN, IGFBP2, PI3K, MDM4, IDH1, mTOR, or Jak2.

subependymoma


Input: LF prevented body weight loss and significantly reduced the elevated plasma H2O2 and increased FRAP values.

FRAP

body weight


Input: On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3 epsilon in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS.

MDS

MDS


Input: In this study, we have evaluated the effect of p38SJ, a novel member of the DING family of proteins, derived from Hypericum perforatum calluses, on the growth of malignant glioma cell lines, T98G and U-87MG by focusing on cell cycle and signaling pathways controlled by phosphorylation of various regulatory proteins including ERK.

DING

calluses


Input: The presence of the T allele of the g. 4235T > C polymorphism and the A allele of the c.-31A > G polymorphism of the SMUG1 gene (odds ratio, 2. 17 and 2. 18, respectively) was associated with an increased risk of AMD severity, expressed by the comparison of the frequencies of genotypes in the group of patients with wet AMD versus those with dry AMD.

SMUG1 gene

dry


Input: Activation of ataxia-telangiectasia mutated (ATM) protein, a sensor to radiation-induced DNA damage, was elevated with increased interaction with NF-kappaB subunits p65 and p50.

NF-kappaB

telangiectasia


Input: CNTNAP2, located on 7q35-36. 1, encodes a single-pass transmembrane protein mediating cell-cell interactions in the nervous system.

nervous system


Input: It seems that mutations of the ATP2A2 gene may also play a role in the pathogenesis of deafness, which seems to be a new phenotypic characteristic of DD patients.

ATP2A2 gene

deafness


Input: The detection rate of the t (14; 18), the most common translocation in B-cell lymphomas, which results in rearrangement of the immunoglobulin heavy chain (IGH) and BCL2 genes, has not been examined in archival cytological smears.

translocation


Input: Considerable evidence indicates that serotonergic mechanisms, particularly the serotonin transporter (5HTT), may mediate central effects of cocaine and may also be involved in impulsive and aggressive behavior.

serotonin transporter

aggressive behavior


Input: Low frequency of CD94/NKG2A + T lymphocytes in patients with HTLV-1-associated myelopathy/tropical spastic paraparesis, but not in asymptomatic carriers.

asymptomatic


Input: Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.

myelin protein zero

Charcot-Marie-Tooth neuropathy type 1B

myelin protein zero

Charcot-Marie-Tooth neuropathy type 1B


Input: We have proposed that immunization with homologous antigen is more appropriate for detailed investigation of autoimmunity in EAG.

EAG

autoimmunity


Input: Significant associations were detected between ESR1 SNPs and the metabolic syndrome (P = 0. 005 to P = 0. 029), type 2 diabetes (P = 0. 001), insulin sensitivity (P = 0. 0005 to P = 0. 023), fasting insulin (P = 0. 022 to P = 0. 033), triglycerides (P = 0. 021), LDL (P = 0. 016 to P = 0. 034), cholesterol (P = 0. 046), BMI (P = 0. 016 to P = 0. 035), waist circumference (P = 0. 012 to P = 0. 023), and subcutaneous adipose tissue area (P = 0. 016).

insulin sensitivity


Input: Addition of an antiserum against HRG to the mammary epithelial tumor cell line TM-6 reduced ErbB-3 Tyr-phosphorylation.

HRG

epithelial tumor


Input: Few studies have been conducted on GCH1, and future studies are needed to clarify its potential role in the progression of schizophrenia.

schizophrenia

schizophrenia


Input: Poliovirus Receptor Like-1 (PVRL1) is a member of the immunoglobulin super family that acts in the initiation and maintenance of epithelial adherens junctions and is mutated in the cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1, OMIM #225000).

Poliovirus Receptor

ectodermal dysplasia 1


Input: To delineate the apoptotic pathways involved, the expression of the apoptosis suppressor oncogene bcl-2 was evaluated in different NHL-B cells with and without the t (14; 18) chromosomal translocation.

chromosomal translocation


Input: Human EC are classified into two major groups: Type I displays endometroid histology, is hormone-dependent, and characterized by frequent microsatellite instability and PTEN, K-RAS, and CTNNB1 (beta-Catenin) mutations; Type II shows non-endometrioid histology, is hormone-unrelated, displays recurrent TP53 mutation, CDKN2A (P16) inactivation, over-expression of ERBB2 (Her2/neu), and reduced CDH1 (Cadherin 1 or E-Cadherin) expression.

E-Cadherin

microsatellite instability


Input: Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.

myelin protein zero

Charcot-Marie-Tooth disease type 1B

myelin protein zero

Charcot-Marie-Tooth disease type 1B


Input: The expression of PINCH was examined by immumohistochemistry in 141 samples of primary colorectal adenocarcinoma and 92 normal samples of colorectal mucosa.

PINCH

colorectal adenocarcinoma


Input: We carried out a hospital-based case-control study in a Caucasian Portuguese population (287 cases and 547 controls) to estimate the susceptibility to non-familial breast cancer associated with some polymorphisms in mismatch repair genes (MSH3, MSH4, MSH6, MLH1, MLH3, PMS1 and MUTYH).

familial breast cancer


Input: Mst1 and Mst2 protein kinases restrain intestinal stem cell proliferation and colonic tumorigenesis by inhibition of Yes-associated protein (Yap) overabundance.

tumorigenesis


Input: EZH2 was depleted by retroviral infection in the NPC cells (HK-1, CNE-2, CNE-1 and C666-1).

retroviral infection


Input: This involves the release of insulin-like growth factor (IGF)-binding protein 5 (IGFBP5) from apoptotic cells, which increases the adhesion of epithelial cells on mesenchymal but not epithelial extracellular matrix (ECM), and involves the direct interaction of IGFBP5 and α2β1 integrins.

adhesion


Input: Phosphorylation level of four specific salivary phospho-peptides, namely statherin, histatin 1 (both, p & lt; 0. 0001) and acidic proline-rich proteins (both entire and truncated isoforms) (p & lt; 0. 005) was found significantly lower in autistic patients, with hypo-phosphorylation of at least one peptide observed in 18 ASD subjects (66%).

statherin

autistic

statherin

autistic


Input: In contrast, the expression of full-length 53BP1 in SW48 cells promoted the repair of X-ray-induced DNA damage, evidenced by faster disappearance of X-ray-induced gamma-H2AX foci, a marker for DNA damage, and less residual chromosomal aberrations after X-irradiation.

chromosomal aberrations


Input: These findings point towards a pathophysiological relevance of changes in DNA methylation of the LEP gene promoter region in alcohol dependence.

LEP

alcohol dependence

LEP

alcohol dependence


Input: γ-H2AX promotes hepatocellular carcinoma angiogenesis via EGFR/HIF-1α/VEGF pathways under hypoxic condition.

VEGF

hypoxic


Input: To compare the copy number intensities of genes associated with GAD67 regulation in the stratum oriens of sectors CA3/2 and CA1 in patients with schizophrenia, patients with bipolar disorder, and healthy controls.

bipolar disorder


Input: Ten of the 25 epithelial cells in endometriosis specimens were informative at this locus, and all of these 10 were shown to be monoclonal on the basis of PGK methylation.

PGK

endometriosis


Input: The FTO gene variant rs9939609 was genotyped in participants attending a weight reduction program that was divided into two phases: a weight reduction period with formula diet (12 weeks) and a weight maintenance phase (40 weeks).

FTO gene

weight reduction


Input: We have now detected a mutation in RIEG1 which segregates with the disease phenotype in a family with IGDS.

IGDS

IGDS


Input: Moreover, anxiety levels were increased in IH as compared to normoxia, while no changes in anxiety emerged in EPO-treated mice.

EPO

anxiety


Input: The aim of this study was to investigate the effect of antenatal glucocorticoid administration on IGF-I and II expression in nitrofen-induced congenital diaphragmatic hernia (CDH) in rats.

IGF-I

congenital diaphragmatic hernia


Input: IL-6 was injected in mice before and after middle cerebral artery occlusion.

middle cerebral artery occlusion

middle cerebral artery occlusion


Input: Only some of them result in genetic transcription, and silencing of HLA-B, ERp57, and LMP7 expression through hypermethylation of the promoters or other mechanisms may contribute to mechanisms of tumor escape from immune surveillance in Kazakh esophageal carcinogenesis.

esophageal


Input: Neutrophil alkaline phosphatase (NAP) scores (reference range 20-150) have been reported to be low in isolated cases, but no comparison has been made of the diagnostic value of NAP, TALP, PEA and PLP in hypophosphatasia.

NAP

hypophosphatasia


Input: Individuals with biallelic TRIP13 or BUB1B mutations have a high risk of embryonal tumors, and here we show that their cells display severe SAC impairment.

embryonal tumors

embryonal tumors


Input: The autoregulatory feedback loop of microRNA-21/programmed cell death protein 4/activation protein-1 (MiR-21/PDCD4/AP-1) as a driving force for hepatic fibrosis development.

hepatic fibrosis


Input: Using protein microarrays made up of 83 different antibodies, it was possible to monitor alterations of the protein levels in HCC and non-neoplastic liver tissue.

HCC

non-neoplastic


Input: These data provide evidence that a common LPL variant (N291S) significantly influences the biochemical phenotype and risk for cardiovascular disease in patients with FH.

LPL

cardiovascular disease


Input: In this study, the expression of AR, ERs, and SRCs, and the possible roles of them in astrocytic neoplasm were evaluated and compared to normal brain tissues by nickel-intensified immunohistochemistry with tissue microarrays.

AR

astrocytic neoplasm

AR

astrocytic neoplasm


Input: The vulnerability of cerebellar neurons to alcohol toxicity declined in parallel with decreasing levels of Math1 and Cyclin D2, markers of immature granule cells.

Cyclin D2

alcohol toxicity

Cyclin D2

alcohol toxicity


Input: For example, the recent discoveries that NCC is activated by angiotensin II but inhibited by dietary potassium shed light on how the kidney handles sodium during hypovolemia (high angiotensin II) and hyperkalemia.

angiotensin II

hypovolemia


Input: Surprisingly, in PENK KO mice, we did not detect anxiety and depression-related behavioral changes after the CMS procedure, and even measured a decreased hormonal stress response.

PENK

depression

PENK

depression


Input: Platelet/endothelial cell adhesion molecule immunohistochemistry, the recessed oxygen microelectrode, color and power Doppler ultrasound (DUS), and diffuse light spectroscopy (DLS) were used to measure tumor oxygen status using vascular endothelial growth factor (VEGF)-transfected hypervascular human melanoma xenografts and their nontransfected counterparts as a model.

endothelial cell adhesion molecule

melanoma


Input: We failed to provide evidence of an association between PKLR rs3020781 and NOS1AP rs7538490 and type 2 diabetes, overweight, obesity or related quantitative metabolic phenotypes in large-scale studies of Danes.

obesity


Input: This family was found to be completely linked to markers mapped to 16q24. 3 and thereby proposed to be allelic to the distichiasis-lymphedema syndrome (DL, MIM 153400), although pterygium colli, congenital heart disease, or facial dysmorphism were not features found here.

MIM

pterygium colli


Input: CSF3R truncation mutations induce overexpression and ligand hypersensitivity of the receptor, likely because of the removal of motifs necessary for endocytosis and degradation.

hypersensitivity


Input: In this study we sought to determine whether hypoxia detected by (18) F-fluoromisonidazole (FMISO) PET accurately reflects the expression of HIF-1α and VEGF in the tumour and can be used as a biomarker of antiangiogenic treatment and as a prognostic factor in newly diagnosed and recurrent malignant gliomas.

VEGF

hypoxia


Input: Finally, using a stem cell proliferation assay and tumour xenotransplantation assay in non-obese diabetic/severe combined immunodeficiency mice, we show that HAGE promotes MMICs-dependent tumour initiation and tumour growth by preventing the anti-proliferative effects of interferon-α (IFNα).

HAGE

obese


Input: While upregulation of FGFR-1 has been previously shown in MDD; abnormalities in GC-1, GRINA, and NRP-1 have not been reported.

MDD

MDD


Input: Most patients with hereditary hemochromatosis are homozygous for C282Y in the HFE gene in populations of Celtic origin, but the genetic cause of this disease is unknown in Japan because of its rarity.

HFE

hemochromatosis

HFE

hemochromatosis


Input: Defective MMR is characterized by microsatellite instability (MSI) and loss of MMR protein expression in the tumor tissue.

MMR

microsatellite instability


Input: Both groups did not differ in age, body weight and height, blood pressure, heart rate, plasma catecholamine levels, plasma renin activity (PRA), and lymphocyte beta 2-adrenoceptor density.

PRA

height


Input: Dipeptidyl-peptidase IV (EC 3. 4. 14. 5) (DPPIV) is a serine peptidase involved in cell differentiation, adhesion, immune modulation and apoptosis, functions that control neoplastic transformation.

DPPIV

adhesion


Input: We propose that 9q34. 11 genomic deletions involving ENG, TOR1A, STXBP1, and SPTAN1 are responsible for multisystemic vascular dysplasia, early-onset primary dystonia, epilepsy, and intellectual disability, therefore revealing cis-genetic effects leading to complex phenotypes.

ENG

early-onset primary dystonia


Input: Colorectal cancer (CRC) that displays high microsatellite instability (MSI-H) can be caused by either germline mutations in mismatch repair (MMR) genes, or non-inherited transcriptional silencing of the MLH1 promoter.

MMR

microsatellite instability


Input: Maspin inhibited histone deacetylase 1 (HDAC1) and thus increased the acetylation of Ku70 and the dissociation of Bax from Ku70, which led to the induction of apoptosis.

Maspin

dissociation


Input: The thiazide-sensitive NaCl cotransporter (NCC) plays key roles in renal electrolyte transport and blood pressure maintenance.

NCC

blood pressure


Input: Here, we provide the first evidence that LPA reduces the cellular abundance of the tumor suppressor p53 in A549 lung carcinoma cells, which express endogenous LPA receptors.

LPA

lung carcinoma


Input: We conclude from these data that the mechanisms for the induction of cold allodynia in the patients with cold injury are independent of TRPM8 or TRPA1 and differ therefore from neuropathic pain patients.

cold


Input: CRF also increased anxiety/fear-like behaviors in the forced swim and predator odor tests.

CRF

anxiety

CRF

anxiety


Input: Using primers specific for chromosomes 14 and 18, translocation of the proto-oncogene bcl-2 was detected by polymerase chain reaction (PCR) in all five lymphomas positive by Southern blot analysis.

translocation


Input: During chemotherapy-induced alopecia, follicular dystrophy was promoted in K14/Bcl-2 mice.

alopecia


Input: The t (14; 18) (q32; q21) translocation is the most commonly observed chromosomal translocation in non-Hodgkin' s lymphoma (NHL), resulting in constitutive Bcl-2 expression and apoptosis inhibition.

chromosomal translocation


Input: The cytokine interferon-gamma (IFN-gamma) is another potential therapeutic agent for TSC.

interferon-gamma

TSC

interferon-gamma

TSC


Input: After the resting metabolic rate was adjusted, the decreases in waist circumference, waist-to-hip ratio, and C-reactive protein remained significant between the two groups.

C-reactive protein

waist-to-hip ratio


Input: Inferring from a correlation observed between the genetic differences in the complement component 5 (C5) and the susceptibility of mouse strains to murine hepatitis virus strain-3 (MHV-3) infections, we propose that excessive complement activation plays a critical role in the development of FH.

complement component 5

infections


Input: Interestingly, cells and organisms survive with mutations in ATM or other components required for HRR, such as BRCA1 and BRCA2, but at the cost of genomic instability and cancer predisposition.

genomic instability


Input: The inhibition of renal MIF expression was paralleled by a significant inhibition of glomerular and interstitial macrophage infiltration (p < 0. 001 versus saline treated), a significant suppression of renal injury (proteinuria and serum creatinine), and a marked reduction in histologic damage (glomerular hypercellularity, crescent formation, and interstitial fibrosis; all p < 0. 01 versus saline treated).

MIF

proteinuria


Input: The authors analyzed 11 cases of nasopharyngeal angiofibromas from 9 male patients for mutations in the mutation cluster region and allelic loss of the APC gene.

APC gene

angiofibromas


Input: The high proportion of recurrent somatic DICER1 and KMT2D mutations in this series of sporadic IO-MEPL points to their likely important roles in the molecular pathogenesis of these rare embryonal tumors, and perhaps suggests the existence of distinct molecular variants of IO-MEPL.

sporadic


Input: Loss of syndecan-1, a cell surface-bound heparan sulfate proteoglycan, has been reported for advanced head and neck carcinomas, and expression of endoglycosidic heparanase, which cleaves heparan sulfate glycosaminoglycans (HS-GAGs), is associated with invasion and metastatic potential of malignant tumors.

heparan sulfate proteoglycan

carcinomas


Input: Expression status of drug resistance-related molecules including ATP-binding cassette (ABC) and heat-shock protein 27 (HSP27) was confirmed in order to analyse molecular mechanisms of the drug resistance.

shock


Input: C-propeptide cleavage site mutations in COL1A1 may not only cause' high bone mass OI', but also the clinical features of GDD, specifically irregular sclerotic BMD and fibro-osseous lesions in the skull and jaw.

high bone mass


Input: We observed high VEGF expression in cerebellar hemangioblastomas, which are highly vascular, nonnecrotic and presumably nonhypoxic tumors, and hypothesized that a mechanism other than hypoxia leads to VEGF upregulation.

VEGF

hypoxia


Input: In human colon cancer cells, forced overexpression of Eomes enhanced cell viability and protected against staurosporine-induced apoptosis.

Eome

colon cancer

Eome

colon cancer


Input: This report shows a family with a non-previously identified mutation in the SLC34A3 gene and exhibiting mild and different manifestations of HHRH.

SLC34A3 gene

mild


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

breast cancer

breast cancer


Input: We discuss here the prenatal origins of the TEL/AML1 translocation as an initiating mutation, the role of TEL-AML1 in cellular transformation and the molecular mechanisms by which the chimeric protein imposes altered patterns of gene expression.

translocation


Input: Affinity purification showed N-Ras to be the predominant activated isoform of Ras in two independent neurofibrosarcoma cell lines from NF1 patients (lines ST88-14 and NF90-8).

N-Ras

neurofibrosarcoma

N-Ras

neurofibrosarcoma


Input: IGF2/IGF1R signaling was blocked by recombinant adenovirus-mediated IGF1R small hairpin RNA (shIGF1R), which was used to transfect into human osteosarcoma (OS) MG-63 cells.

adenovirus


Input: These studies represent the first successful application of PGD for beta-thalassaemia and sickle cell anaemia in Italy.

PGD

sickle cell anaemia


Input: However, the PE-like symptoms were significantly alleviated after the PS/PC-injected mice were treated with annexin V, AND, or heparin.

annexin V

PE

annexin V

PE


Input: In the present study, we chose highly metastatic human gastric carcinoma SGC-7901 cells, which express all of the ERM proteins as a model to examine the functional roles of these proteins in tumor metastasis.

ERM

gastric carcinoma


Input: These data suggest that changes of plasma levels of anti-NPY autoAbs are relevant to altered mood, while changes of their affinity may participate in altered appetite and body weight in patients with depressive disorder.

NPY

body weight


Input: Appropriate lifestyle decisions and, eventually, perhaps, specific SEDL therapies may ameliorate the prognosis of premature osteoarthritis and the need for hip arthroplasty.

SEDL

premature osteoarthritis


Input: Defects of insulin action manifested as abdominal obesity, impaired NEFA suppression, and fasting hyperinsulinemia are present in Sikh MI patients and their asymptomatic, nondiabetic, first-degree relatives.

NEFA

abdominal obesity


Input: Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.

UTR

melanoma


Input: Inhibition of the JAK/STAT signalling pathway reduces brain oedema, decreases the expression of CD40 and exerts neuroprotective effects after TBI.

brain oedema


Input: In addition, the genotype associated with high serum levels of TGFβ may be associated with an increase in plasma viral load.

TGFβ

viral load


Input: The interpretation of the association between testosterone and IR seems to require consideration of the AR CAG repeat polymorphism.

AR

IR

AR

IR


Input: In the present study, the genomic structure of the nephrin gene was analyzed, and 35 NPHS1 patients were screened for the presence of mutations in the gene.

nephrin

nephrin


Input: The HS-GGT concentrations were quantitatively analyzed in the sera of 156 HCC patients and others with liver diseases or extrahepatic tumors.

HCC

liver diseases


Input: Since the highest expression levels of HDAC genes were recorded in ET, in PMF and in the entire CMPN group, their down-regulation by HDAC inhibitors might be associated with decreased disease activity, including reduction of splenomegaly.

HDAC

splenomegaly


Input: In vitro mutagenesis revealed that the Ser172--& gt; Cys mutation caused a mutant LPL protein that had residual activity higher than that seen in all eight other missense mutations in patients with LPL deficiency identified in our laboratory.

LPL

LPL deficiency

LPL

LPL deficiency


Input: Breakpoints affecting the IGK locus were detected in 7 cases including all 4 variant Burkitt' s translocations t (2; 8) (p12; q24) and a variant BCL2-associated translocation t (2; 18) (p12; q21).

translocation


Input: Each gene (DLC-1, PCDHGB7, CYP27B1, EFNA5, CCND1 and RARbeta2) was frequently hypermethylated in these NHLs (87, 78, 61, 53, 40 and 38%, respectively), but not in benign follicular hyperplasia.

follicular hyperplasia


Input: Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy.

Schnyder corneal dystrophy

Schnyder corneal dystrophy


Input: The expression of Camsap1 mRNA and protein is higher in cancer tissues compared to that in normal tissues.

cancer


Input: Although highest levels of Pak1 expression and activation are detected in the developing nervous system, much remains undiscovered concerning its function in neurones.

nervous system


Input: As an effort to develop new chemotherapy for prostate cancers, in this study, we tested the effects of tetra-bromo-cinnamic acid (TBCA), a newly synthetic CK2-selective CK2 inhibitor, on androgen receptor (AR) transactivation, cell proliferation, and viability in multiple prostate cancer cell lines.

TBCA

prostate cancer


Input: The val allele of the Val158 Met polymorphism of the COMT gene was associated with increased schizotypal personality trait scores in individuals exposed to higher levels of self-reported childhood trauma (p < 0. 05).

COMT gene

personality trait


Input: Cells were subjected to simulated ischemia 24 hours after liposomal HSP72 transfer or thermal stress, and the effect of HSP72 on nuclear factor-kappaB (NF-kappaB) activation (electrophoretic mobility shift assay and immunohistochemistry), IkappaBalpha production (Western blot), postischemic tumor necrosis factor-alpha (TNF-alpha) production (RT-PCR), and apoptosis (TUNEL assay) were determined.

ischemia


Input: Western blot analyses demonstrated the presence of 78 kDa soluble CD44 protein in the culture supernatant of stably transfected cell lines (CD44 (sol) clones) and were not detected in the empty vector control line (clone m).

sol


Input: However, the complete blood cell (CBC) test gave the following results: mean corpuscular volume (MCV) 79. 8 fL, mean corpuscular hemoglobin (MCH) 19. 9 pg, with a Hb A2 value of 5. 66%, suggesting that the proband also was β-thal minor.

MCH

mean corpuscular volume


Input: Megakaryoblastic leukemia 1 (MKL1) is a coactivator of serum response factor (SRF) that promotes the expression of genes associated with cell proliferation, motility, adhesion, and differentiation-processes that also involve dynamic cytoskeletal changes in the cell.

adhesion


Input: Our approach may have practical implications in screening strategies for hereditary hemochromatosis, molecular diagnosis, and HFE structure-function relationships.

HFE

hemochromatosis

HFE

hemochromatosis


Input: Classical galactosemia is an inherited recessive disorder of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT), which is caused by mutations in the GALT gene.

GALT gene

disorder of galactose metabolism


Input: HIV and AIDS were not associated with HERV-K10 antibodies, thus, leaving their higher risk of testicular cancer unexplained.

testicular cancer


Input: In this article, we identify a gene, SLC39A4, located in the candidate region and, in patients with AE, document mutations that likely lead to the disease.

AE

AE


Input: Among the underexpressed genes discovered in HCC, most were responsible for liver-synthesized proteins (fibrinogen, complement species, amyloid, albumin, haptoglobin, hemopexin and orosomucoid).

hemopexin

fibrinogen


Input: The expression of CYP enzyme genes and corresponding nuclear receptors was generally decreased in end-stage liver diseases, and significant differences in gene expression were evident between peri-HCC and HCC.

HCC

liver diseases


Input: Temozolomide exhibited strong synergy with G207 in both MGMT-negative and the MGMT inhibitor O6-benzylguanine-treated MGMT-expressing gliomas (Chou-Talalay combination indices = 0. 005 to 0. 39) and induced GADD34 expression primarily in nonapoptotic MGMT-negative U87 glioma cells (fold difference = 16, 95% confidence interval [CI] = 12. 6 to 20. 4, compared with untreated cells).

glioma


Input: Immunocytochemistry showed high level expression of CD44 in cells from a high grade prostate tumor, and two androgen-independent, invasive prostatic carcinoma lines, PC-3 and TSU-Pr1.

prostatic carcinoma


Input: We found that expression of the tumor-promoting cytokines, IL-8 and VEGF, induced by hypoxia (< 1% O2) and deferoxamine (a hypoxia mimetic) was significantly attenuated in PPARδ-deficient HCT116 colon cancer cells.

VEGF

hypoxia


Input: Polymorphisms in SLC6A4, PAH, GABRB3, and MAOB and modification of psychotic disorder features.

PAH

psychotic disorder

PAH

psychotic disorder


Input: We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes.

Beemer-Langer syndrome

Beemer-Langer syndrome


Input: In the present study, short tandem repeats (STR) polymorphism within the first intron of IFN-gamma gene in connection with HLA-DRB1 * 03 specificities was analysed in 43 sarcoidosis patients, 14 of which presented with Löfgren' s syndrome (LS).

STR

sarcoidosis


Input: We hypothesized that insulin resistance develops when dysregulation of Pck1 occurs in the triglyceride/fatty acid cycle, which regulates lipid synthesis and transport between adipose tissue and the liver.

insulin resistance


Input: Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease

parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease


Input: Influence of the C242T polymorphism of the p22-phox gene (CYBA) on the interaction between urinary sodium excretion and blood pressure in an urban Brazilian population.

CYBA

blood pressure


Input: Duchenne muscular dystrophy is an X-linked recessive muscle wasting disease caused by the absence of the muscle cytoskeletal protein, dystrophin.

cytoskeletal protein

muscle wasting


Input: Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21. 3 as novel candidate genes for autism.

autism

autism


Input: The numbers of identified RDH5 mutations linked to fundus albipunctatus have increased considerably during recent years.

fundus albipunctatus

fundus albipunctatus


Input: We used two different approaches, the affected sib-pair (ASP) method and the transmission disequilibrium test (TDT), to investigate the linkage and association between GluR6 and autism.

ASP

autism


Input: CHD2 haploinsufficiency is known to cause intellectual disability and epilepsy, RGMA haploinsufficiency might explain truncal obesity with onset around puberty observed in our two patients.

RGMA

intellectual disability


Input: The aim of the study was to examine the role of 20877G > A (Arg753GIn) in TLR2 gene and 8993C > T (Thr399lle) in TLR4 gene in the etiopathogenesis of postmenopausal osteoporosis in Polish women.

TLR2 gene

postmenopausal osteoporosis


Input: In contrast, in AdCMVceNOS-transduced rats (n = 8) the hypoxia-induced increase in PAP was significantly attenuated (18 +/-1 to 23 +/-2 mmHg).

PAP

hypoxia


Input: To screen out the differentially methylated DNA sequences between gastric primary tumor and metastatic lymph nodes, test the methylation difference of gene PTPRG between primary gastric tumor and metastatic lymph nodes, and test the regulatory function of 5-aza-2'-deoxycytidine which is an agent with suppression on methylation and the level of methylation in gastric cancer cell line.

PTPRG

gastric tumor

PTPRG

gastric tumor


Input: In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in STXBP1.

atypical Rett syndrome

atypical Rett syndrome


Input: The FTO gene was examined by a survival analysis of 30 tag SNPs regarding their association with left, interval and right-censored adult overweight.

FTO gene

overweight


Input: Recombinant human Oncostatin M (rhOSM) can induce the transient tyrosine 705 phosphorylation of STAT3 in serum-starved LIFR beta/OSMR beta expressing ovarian carcinoma cell lines, but does not alter cell growth and effects only a modest increase in the apoptotic rate in these cultured cells.

LIFR

ovarian carcinoma


Input: We found three SOX10 mutations, one EDNRB and one EDN3 mutations in patients presenting with the classical form of WS4, and two SOX10 mutations in patients displaying chronic intestinal pseudo-obstruction and WS features.

EDNRB

EDNRB


Input: Fluorescence in situ hybridization analysis of an ILS patient with a de novo balanced translocation, as well as analysis of several other key MDS and ILS deletion patients, localizes the lissencephaly critical region within the LIS1 gene.

LIS1 gene

translocation


Input: Encapsulation in hollow fibres of xenogeneic cells engineered to secrete IL-4 or IL-13 ameliorates murine collagen-induced arthritis (CIA).

collagen-induced arthritis

collagen-induced arthritis


Input: NCAM1-TTC12-ANKK1-DRD2 variants and smoking motives as intermediate phenotypes for nicotine dependence.

smoking


Input: Although erythropoietin (EPO) alone stimulated neither proliferation nor differentiation of HML/SE cells, it did stimulate proliferation of HML/SE cells and production of hemoglobin in the presence of SCF.

EPO

hemoglobin


Input: Mice with germ line interruptions in the Ldlr and Apobec1 genes (Ldlr (-/-) Apobec1 (-/-)) simulate metabolic and clinical aspects of hoFH, including atherogenesis on a chow diet.

atherogenesis


Input: We identified a C7 haplotype associated with protection against developing wet AMD among individuals with homozygous CFH risk allele 402H (p-value 0. 001 for wet AMD versus dry AMD, odds ratio (OR) 0. 16, OR 95% CI 0. 05-0. 49) as well as among individuals with at least one CFH risk allele (p-value 0. 007 for wet AMD versus dry AMD, OR 0. 35, OR 95% CI 0. 16-0. 77).

CFH

dry


Input: Human RAG2, like RAG1, is on chromosome 11 band p13 and therefore not linked to ataxia telangiectasia complementation groups.

telangiectasia


Input: Tumor regression has been observed following transfer of T cells engineered to express chimeric antigen receptors against CD19 in B-cell malignancies or a T-cell receptor against NY-ESO-1 in synovial cell sarcoma and melanoma.

sarcoma


Input: The parameters determined were the levels of CD4 +, CD19 +, CD19 + CD69 +, CD19 + av, Treg (CD4 + CD25 + CD127lo), BGP, TRAP, IL-17, calcium, phosphate, blood urea nitrogen, serum creatinine (SCr), hemoglobin (Hb) in peripheral blood, and urinary creatinine.

hemoglobin


Input: The epithelial markers E-cadherin (E-Cad) and zona occludin-1 (ZO-1), the mesenchymal markers fibronectin (FN) and vimentin (Vim) and the transcription factors (Snail, Zeb1 Twist and Slug) were further detected at mRNA and protein levels by qRT-PCR and Western blotting, respectively.

occludin

zona


Input: Serum HGF was significantly higher in the patients with AMI (335. 0 +/-197. 5 pg/ml), unstable angina (269. 1 +/-152. 7 pg/ml), acute aortic dissection (320. 3 +/-116. 5 pg/ml), and pulmonary thromboembolism (292. 5 +/-101. 9 pg/ml), than in those with stable angina (171. 2 +/-56. 1 pg/ml).

HGF

unstable angina


Input: Additionally, both necrostatin-1, an inhibitor of receptor-interacting protein kinase 1 (RIP1), and siRNA-mediated knockdown of RIP3 decreased the annexin V-/PI + early necrotic population after TRAIL treatment.

annexin V

necrotic


Input: Recently, a recurrent novel AKT1 pleckstrin homology domain (PHD) mutation leading to membrane translocation, constitutive AKT activation and leukaemia development in mice was described.

AKT

translocation


Input: However, it is unknown whether the level of serum IL-6 or genetic IL-6 polymorphism is correlated with the complexity of coronary plaque in patients with stable coronary artery disease (CAD).

plaque


Input: Immunoglobulin E-dependent regulation of the CCR3 chemokine receptor by interferon-gamma in atopic asthmatics.

atopic


Input: The STOP trial was a longitudinal, double-blind, placebo-controlled randomized trial that included 1429 subjects with IGT from high-risk populations.

STOP

blind


Input: In both a general population cohort and a birth cohort of subjects with nonaffective psychosis, APA was associated with maternal, but not paternal, schizophrenia.

APA

schizophrenia


Input: Notably, we identified recurrent mutations of known cancer genes, including TP53, CYLD, CDKN2A, BAP1 and PBRM1, in thymic carcinomas.

CYLD

thymic carcinomas

CYLD

thymic carcinomas


Input: Besides insulin resistance, type 2 diabetes is characterized by a deficit in β-cell mass as a result of misfolded human islet amyloid polypeptide (h-IAPP) which forms toxic aggregates that destroy pancreatic β-cells.

IAPP

insulin resistance


Input: We found that triptolide suppressed RANKL-induced differentiation of precursor cells to osteoclasts, and also inhibited osteoclast formation induced by human breast tumor cells (MDA-MB-231), multiple myeloma cells (U266) and prostate tumor cells (PC-3).

multiple myeloma


Input: Overexpression of EPCAM, HAS3, and MMP10 transcripts was found in a large fraction of primary bladder tumors analyzed, supporting their key role in bladder tumorigenesis in vivo.

bladder tumors


Input: We detected the transcripts of FRA2, JUND, CCR4, MYB, MDM2, and BCL6 at high levels in CTCL skin lesions.

skin lesions


Input: In an animal model of depression, Flinders Sensitive Line rats, and Sprague Dawley controls we analyzed if 7 weeks of social isolation of adult animals affect the number of newly proliferated cells in the dentate gyrus or mRNAs of Neuropeptide Y (NPY), the NPY-Y1 receptor, nociceptin, BDNF, and the serotonin 5HT1A and 5HT2A receptors, which are molecules involved in hippocampal plasticity.

nociceptin

depression

nociceptin

depression


Input: Thus, noscapine may possess novel antiangiogenic activity associated with two broad mechanisms of action: first, by decreasing HIF-1alpha expression in hypoxic tumor cells, upregulation of target genes, such as VEGF, would be decreased concomitant with its associated angiogenic activity; second, by inhibiting endothelial cells from forming blood vessels in response to VEGF stimulation, it may limit the process of neo-vascularization, correlating with antitumor activity in vivo.

VEGF

hypoxic


Input: The genes implicated, which replicated genes previously shown to be associated with alcoholism were: cadherin 11, collagen type 11 & #945; 2, neuromedin U receptor 2, exportin7, and semaphorin-associated protein 5A.

neuromedin U receptor 2

alcoholism

neuromedin U receptor 2

alcoholism


Input: Moreover, immunohistochemistry on paraffin-embedded tissue revealed c-FLIP expression in 39% (14 of 36) of NKTL patients.

c-FLIP

NKTL

c-FLIP

NKTL


Input: Taken together, our observations suggest a synergetic effect of IL-17A and hypoxia that might contribute to the migration and invasion of RA-FLSs by upregulating the expression of MMP2 and MMP9 by activation of the NF-κB/HIF-1α pathway.

hypoxia


Input: Three different histologic patterns were observed: (1) lymphoproliferative disease (LPD), (2) anaplastic large cell lymphoma (ALCL), (3) Hodgkin-like lesions (HDLL).

LPD

large cell lymphoma


Input: In a variety of well-characterized behavioral tasks, including the elevated plus maze (anxiety-like behavior), forced swim test (depression-like behavior), hot plate (nociception) and two cognition models (passive avoidance and acquisition of conditioned avoidance responding), PDE1B knockout mice performed similarly to wild-type mice.

depression

depression


Input: Dermatofibrosarcoma protuberans (DFSP) carries a translocation resulting in the collagen type I alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene, which is responsible for PDGFB activation.

translocation


Input: ERRalpha mRNA was expressed at levels greater than or similar to ERalpha mRNA in 24% of unselected breast tumors, and generally at higher levels than ERalpha in the progesterone receptor (PgR)-negative tumor subgroup (1-way ANOVA with repeated measures, P = 0. 030).

ANOVA

breast tumors


Input: His weight evolution closely resembled that of patients who are LEPR deficient, but markedly differed with that of children carrying either heterozygous MC4R mutations or MC4R wild type allele.

LEPR

weight


Input: Mutations in other genes, such as IRS4, GULP1, NHSL1, and C10orf53, accounted for one alteration in each meningioma nodule.

meningioma


Input: Molecular analysis of a patient affected by the autosomal recessive skeletal dysplasia, pycnodysostosis (cathepsin K deficiency; MIM 265800), revealed homozygosity for a novel missense mutation (A277V).

cathepsin K

pycnodysostosis

cathepsin K

pycnodysostosis


Input: In this study, we investigated the expression profiles of the microprocessor complex subunit DiGeorge syndrome critical region gene 8 (DGCR8) and the RISC components argonaute-1 (AGO1), argonaute-2 (AGO2), as well as double-stranded RNA-binding proteins PACT, TARBP1, and TARBP2 in epithelial skin cancer and its premalignant stage.

RISC

skin cancer


Input: However, our previous studies in VWF-deficient mice demonstrated delayed but not absent arterial thrombus formation, suggesting that, under these conditions, GPIbalpha may bind other ligands or that a receptor other than GPIbalpha can mediate platelet adhesion.

GPIbalpha

adhesion


Input: This is the second description of a clinically relevant CD45 mutation, provides direct evidence for the importance of CD45 in immune function in humans, and suggests that abnormalities in CD45 expression are a possible cause of SCID in humans.

abnormalities


Input: EGFR-antisense cells were morphologically distinct from vector control cells and had a selective decrease in adhesion to laminin-1 that was not observed with vector control cells (P =. 008) or on other extracellular matrix substrates.

EGFR

adhesion


Input: Sialomucin complex (SMC), a rat homologue of the human mucin MUC4, is a large membrane-bound mucin complex, originally isolated from highly metastatic ascites 13762 mammary adenocarcinoma cells.

mammary adenocarcinoma


Input: Mutation of the inositol polyphosphate 5-phosphatase OCRL1 results in two disorders in humans, namely Lowe syndrome (characterized by ocular, nervous system, and renal defects) and type 2 Dent disease (in which only the renal symptoms are evident).

Lowe syndrome

Lowe syndrome


Input: After prioritization and network analysis we found recurrent deleterious mutations in 8 individual genes (STAG2, U2AF1, SMC1A, USP9X, IKZF1, LYN, MYCBP2 and PTPN11) with a strong potential of being involved in APL pathogenesis.

APL

APL


Input: The relative EPO mRNA expression in the liver on D19 and in the kidney on D21 were significantly lower in the CDH group than in the controls (P & #8201; = & #8201; 0. 0008 and P & #8201; = & #8201; 0. 0064, respectively).

EPO

CDH

EPO

CDH


Input: The incidence of thromboembolism was 2. 5% per patient year for protein C deficient and 3. 5% per patient year for protein S deficient patients.

protein S

thromboembolism

protein S

thromboembolism


Input: A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.

Doyne honeycomb retinal dystrophy

Doyne honeycomb retinal dystrophy


Input: Moreover, we found a strong expression of CCR7 in perifascicular atrophic and in degenerating/regenerating muscle fibers in juvenile dermatomyositis (JDM) but not in fibers from adult polymyositis and Duchenne muscular dystrophy.

juvenile dermatomyositis


Input: Direct sequencing of candidate genes within the target interval revealed five different germline mutations in FLVCR2 in five families with Fowler syndrome.

Fowler syndrome

Fowler syndrome


Input: The aim of this study was to isolate a rat counterpart of human LST-1 and examine the expression regulation of its messenger RNA (mRNA) to clarify the molecular basis of cholestasis.

cholestasis


Input: Infarct size was significantly smaller in the hMSCs-treated group than in the angiopoietin-1 (Ang-1) or vascular endothelial growth factor (VEGF)-treated group at day 28 after infarction.

VEGF

infarction


Input: In postmenopausal women CYP1A2 activity was positively associated with insulin-like growth factor-1, and negatively associated with plasma triglyceride, high-density lipoprotein cholesterol, and age at menarche.

age at menarche


Input: Decreased TM4SF4 gene expression showed minimal liver necrosis and depressed ALT and AST levels.

liver

liver


Input: Up-regulation of TWEAK/Fn14 and hypoxia and ER stress surrogate gene expression was observed in sc and visceral adipose tissue only in our severely obese cohort.

hypoxia


Input: Our results suggest that Id-1 may play roles in tumor progression and EMT activation in bladder cancer.

EMT

tumor progression


Input: Our findings highlight the importance of microduplications at Xp11. 22 to ID, even in sporadic cases, and reveal new clinical and molecular insight into HUWE1 copy number gains.

sporadic


Input: Moreover, YC-1 dose dependently inhibited mRNA expression levels of VEGF and GPI in hypoxic cells.

VEGF

hypoxic


Input: Another model suggests that CCM develop according to the two-hit model of tumorigenesis associated with biallelic inactivation of KRIT1.

CCM

CCM


Input: Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

Dejerine-Sottas disease

Dejerine-Sottas disease


Input: Therefore the expression of nerve growth factor (NGF), BDNF, neurotrophin-3 (NT-3), and neurotrophin-4/5 (NT-4/5) was investigated in postmortem muscle tissue of the biceps from 15 patients with neuropathologically confirmed sporadic ALS and 15 age-matched controls.

sporadic


Input: XPF protein may be a predictive marker for cisplatin responsiveness of metastases in HNSCC patients.

XPF

metastases

XPF

metastases


Input: The aim of the present study is to compare the personality traits of euthymic bipolar patients with healthy controls and to investigate the effect of the catechol-O-methyltransferase (COMT) Val158Met genotype on those traits.

COMT

personality traits


Input: Explicit role of peroxisome proliferator-activated receptor gamma in gallic acid-mediated protection against ischemia-reperfusion-induced acute kidney injury in rats.

peroxisome proliferator-activated receptor gamma

acute kidney injury

peroxisome proliferator-activated receptor gamma

acute kidney injury


Input: Lipocalin 2 is required for BCR-ABL-induced tumorigenesis.

Lipocalin 2

tumorigenesis


Input: We examined the frequency of germ-line msh6 mutations in a population-based series of 140 colorectal cancer patients, including 45 sporadic cases, 91 familial non-HNPCC cases, and 4 HNPCC cases.

sporadic


Input: Reverse transcriptase (RT)-PCR with primers specific for surfactant protein A (SP-A), B (SP-B), C (SP-C), and D (SP-D) genes was applied to detect metastatic non-small cell lung carcinomas.

SP-D

carcinomas


Input: Also, adenovirally transferred TIMP3 reduced adhesion, migration and invasion behaviors of CT26 cells in vitro.

adhesion


Input: Variations for genes encoding receptors related to cold and heat sensation, such as transient receptor potential A subtype 1 (TRPA1), M subtype 8 (TRPM8), V subtype 1 (TRPV1), delta opioid receptor subtype 1 (OPRD1), catechol O-methyltransferase (COMT), and fatty acid amide hydrolyase (FAAH), were investigated in four major ethnic populations.

cold


Input: Opioid anesthesia during operation may prevent postoperative beta-endorphin hypersecretion.

beta-endorphin

anesthesia


Input: That rare susceptibility variants indeed contribute to variation in multifactorial phenotypes has been demonstrated for colorectal cancer, plasma high-density lipoprotein cholesterol levels, blood pressure, type 1 diabetes, hypertriglyceridemia and, in the case of Crohn' s disease, for NOD2 (refs.

blood pressure


Input: To demonstrate that these findings are specific, 10 samples of lichen planus were analysed without evidence for FGFR3, PIK3CA or RAS mutations.

lichen planus


Input: We investigated microsatellite instability (MSI) and status of mismatch repair (MMR) gene product, MLH1, MSH2 and MSH6, in 63 sporadic endometrial cancers coexisting with colorectal or breast cancer.

MMR

microsatellite instability


Input: Female European Americans with the TRPV1 Val (585) Val allele and males with low harm avoidance showed longer cold withdrawal times based on the classification and regression tree (CART) analysis.

cold


Input: Immunohistological analysis of biopsies along the GI tract (stomach, duodenum, colon) immunostained with chromogranin A and serotonin revealed a widespread reduction or complete loss of EE cells in all four patients with APECED syndrome suffering from severe diarrhea, vomiting, malabsorption, or constipation.

chromogranin A

malabsorption


Input: By contrast, SHOX overdosage usually leads to long limbs and tall stature resulting from continued growth into the late teens in subjects with gonadal dysgenesis.

SHOX

tall stature


Input: Therefore, our results suggest miR-302b can play an essential role in osteosarcoma treatment as a potential tumor suppressor.

osteosarcoma

osteosarcoma


Input: Efforts to understand the pathogenesis of pulmonary fibrosis have focused primarily upon collagen turnover in the lung; few studies have focused on elastin.

elastin

pulmonary fibrosis

elastin

pulmonary fibrosis


Input: Although TGF-beta secretion increased, the proliferation of melanoma cells was found to be only moderately inhibited by TGF-beta isoforms, in contrast to its strong antiproliferative effect on normal human melanocytes:-15%,-11%, and-18% vs.-52%,-46%, and-50% average inhibition at 0. 5 ng/ml TGF-beta1,-beta2, and-beta3, respectively.

melanoma


Input: The molecular coupling of the adaptor protein Crk to the docking protein p130 (Cas) serves as a switch that regulates cell migration in several invasive cancer cells and Ack appears to act upstream of CrkII to modulate the cell motility.

docking protein

invasive cancer


Input: Analysis of MAI, immunohistochemical staining patterns for proliferation-associated phosphohistone H3 (PPH3), phosphorylated ERK1/2, p21, cyclin E, Ki67 and cyclin D1 proteins; and prognosis in 158 adjuvant chemotherapy-treated T1-2N0M0 invasive breast cancer patients, analysis of LOH at 1p31 (including ARHI) using the dinucleotide repeats D1S207, D1S430 and D1S464 in 76 patients.

invasive breast cancer


Input: In addition, the mitochondrial genes MT-CO2, MT-CO3, MT-ATP6, and MT-ND6 were sequenced in further 35 paired samples from prostate cancer patients.

prostate cancer


Input: PSAT1 expression was elevated in ESCC tissues compared to normal esophageal tissues.

esophageal


Input: We proposed for the first time that DNMT1 played a key role in PDGF-induced RASM cell phenotypic switching and Aza-CdR is promising in intervening ASM remodeling in asthma.

asthma

asthma


Input: Except for one retroperitoneal leiomyosarcoma, nuclear INI1 expression was retained in all composite rhabdoid tumors, including meningiomas with 22q deletion.

retroperitoneal leiomyosarcoma


Input: The K-sam-related gene, N-sam (NCC-IT-cell-derived sam), was isolated by screening of the cDNA libraries of human immature teratoma cells, NCC-IT.

N-sam

immature teratoma


Input: We conclude that enhanced expression of ATX in the active mucosa has been implicated in the pathophysiology of inflammatory bowel disease through enhancing aberrant lymphocyte migration to the inflamed mucosa.

ATX

inflammatory bowel disease


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

Burkitt lymphomas

Burkitt lymphomas


Input: Epithelial-mesenchymal transition (EMT) and inflammation play important roles during tumor progression of colorectal cancer (CRC).

EMT

tumor progression


Input: Stanniocalcin-1 (STC1) is a secreted glycoprotein implicated in several pathologies including retinal degeneration, cerebral ischemia, angiogenesis and inflammation.

retinal degeneration


Input: However, it is unknown whether xerosis independent of FLG mutations could also increase the risk of asthma.

FLG

xerosis


Input: Cryptic t (12; 15) (p13; q26) producing the ETV6-NTRK3 fusion gene and no loss of IGF2 imprinting in congenital mesoblastic nephroma with trisomy 11: fluorescence in situ hybridization and IGF2 allelic expression analysis.

ETV6-NTRK3 fusion

congenital mesoblastic nephroma

ETV6-NTRK3 fusion

congenital mesoblastic nephroma


Input: Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.

Danon disease

Danon disease


Input: In contrast, higher insulin responses and blunted 60-min GLP-1 responses during the OGTT were observed in the heavier as compared with leaner MZ cotwins discordant for BMI, liver fat, and insulin sensitivity.

insulin sensitivity


Input: Subcutaneous air pouch and systemic candidiasis models demonstrated that endogenous thrombospondin-1 enhances the early innate immune response against C. albicans and promotes activation of inflammatory macrophages (inducible nitric oxide synthase ⁺, IL-6 (high), TNF-α (high), IL-10 (low)), release of the chemokines MIP-2, JE, MIP-1α, and RANTES, and CXCR2-driven polymorphonuclear leukocytes recruitment.

RANTES

systemic candidiasis


Input: Neither t (11; 18) (q21; q21), nor t (1; 14) (p22; q32) or any other translocation involving IGH, BCL10, MALT1, BCL2 and API2, amplification or deletion of chromosomal region 11q21, 18q21, 1p22, and 14q32 was detected.

translocation


Input: Our findings identify PI3K/AKT pathway mutations as an important cause of epileptogenic brain malformations and establish megalencephaly, hemimegalencephaly, and focal cortical dysplasia as part of a single pathogenic spectrum.

brain malformations


Input: Angiotensin-(1-7) receptor blockade by D-Ala (7)-Ang-(1-7) prevented the ACE2-mediated improvements in intraperitoneal glucose tolerance, glycemia, and islet function and also impaired insulin sensitivity in both Ad-hACE2-eGFP-and Ad-eGFP-treated db/db mice.

insulin sensitivity


Input: Hypermethylation of the hMLH1 gene promoter, polymorphisms of the GSTM1, GSTT1, CYP1A1, CYP2E1, ALDH2 and L-myc genes, microsatellite instability and mutations of p53 and Ki-ras genes were investigated.

microsatellite instability