Input: Hpse2 knockout mutants display a distended bladder (megacystis) phenotype and abnormal voiding behavior similar to that found in patients.

megacystis


Input: DNA hypermethylation of RASSF1A, APC, cytoglobin, 3OST2, PRDM14, FAM19A4 and PHACTR3 was analysed in sputum samples from symptomatic lung cancer patients and controls (learning set: 73 cases, 86 controls; validation set: 159 cases, 154 controls) by quantitative methylation-specific PCR.

lung cancer


Input: NAP acts neuroprotectively in vivo after retinal ischemia and optic nerve crush, and may have potential in treating optic nerve diseases.

NAP

optic nerve diseases


Input: The expression of retinoic acid receptor alpha is increased in the granule cells of the dentate gyrus in schizophrenia.

retinoic acid receptor alpha

schizophrenia

retinoic acid receptor alpha

schizophrenia


Input: This translocation results in a fusion of the TEL/ETV6 and AML1 genes.

translocation


Input: Tumor necrosis factor (TNF)-alpha caused insulin resistance on glucose uptake and GLUT4 translocation by impairing insulin stimulation of insulin receptor (IR) and IR substrate (IRS)-1 and IRS-2 tyrosine phosphorylation, IRS-associated phosphatidylinositol 3-kinase activation, and Akt phosphorylation.

insulin receptor

translocation


Input: In comparison with non-alcoholic steatohepatitis, in HCV-infected subjects IFN-alpha and-beta mRNA levels were significantly lower, whereas IFN-gamma, IFNAR-1, STAT1alpha IRF-1, and IL-18 mRNA were upregulated.

IFNAR

alcoholic steatohepatitis


Input: Reverse transcription PCR analysis of ESCC and matched normal esophageal tissues provided the first evidence that melanoma metastasis clone D (MEMD), a gene similar to oncostatin M receptor beta, and KIAA0471 gene products are upregulated in ESCCs.

esophageal


Input: The protein and messenger RNA (mRNA) expression of AGK was analyzed in six cervical cancer cell lines and four paired early-stage CSCC specimens and normal cervical tissues (NCT), using Western blotting and real-time PCR (RT-PCR).

AGK

cervical cancer


Input: These results are very promising especially with regard to the skeletal phenotype but it is unclear whether ERT also has beneficial effects for craniosynostosis and in other affected tissues in HPP such as brain and kidney.

HPP

craniosynostosis


Input: Gastric carcinomas with DNA replication errors (RER phenotype) display a particular clinicopathologic profile and carry a putative favorable prognosis.

RER

carcinomas


Input: Overexpression of TFF3 upregulated the mRNA expressions of VEGF and HIF-1a induced by hypoxia, and stable knockdown of TFF3 impaired the mRNA upregulations of VEGF and HIF-1a induced by hypoxia.

VEGF

hypoxia


Input: The results demonstrate the growth-promoting properties of periostin, and a possible role of targeting this protein as a therapeutic option in colorectal cancers.

periostin

colorectal cancers

periostin

colorectal cancers


Input: In the present study, we found that hypoxia-induced nuclear translocation and accumulation of YAP acted as a survival input to promote resistance to SN38 in HCC.

YAP

hypoxia


Input: In patients with underlying immunodeficiency, Epstein-Barr virus (EBV) may lead to severe immune dysregulation manifesting as fatal mononucleosis, lymphoma, lymphoproliferative disease (LPD), lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis (HLH) and dysgammaglobulinemia.

LPD

mononucleosis


Input: Enforced HOXA1 expression in HaCAT cells was not capable of modulating other events related to tumorigenesis, including apoptosis, adhesion, invasion, EMT and anchorage-independent growth.

tumorigenesis


Input: The mean serum concentration of HE4 was significantly higher in serum samples of patients with both endometrial (99. 2 pM, P < 0. 001) and ovarian (1125. 4 pM, P < 0. 001) cancer but not with ovarian endometriomas (46. 0 pM) or other types of endometriosis (45. 5 pM) as compared with healthy controls (40. 5 pM).

endometriosis


Input: Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.

Waardenburg syndrome type 1

Waardenburg syndrome type 1


Input: We have identified three Japanese boys and one girl from four unrelated families with RS-SCID caused by a genomic exon 3 deletion of the Artemis gene, resulting in loss of exon 3 and skipping of exon 4.

Artemis

RS-SCID

Artemis

RS-SCID


Input: Deficiency of BTK leads to a developmental block in B cell differentiation; hence, the patients essentially lack antibody-producing plasma cells and are susceptible to various infections.

BTK

infections


Input: Our results suggest that mutations that disrupt the interactions of IL-10 with its receptors (IL-10RA and IL-10RB) and α2-macroglobulin (A2M) may enhance inflammation and modulate anti-tumor immunity.

tumor immunity


Input: In this study, we aimed to explore the expression of ZnT-8 in the development of T2DM.


Input: Of 44 ascites specimens, the expression of BAGE, MAGE-1, MAGE-3, and GAGE-1/2 was recognized in 17 specimens (63%), 2 specimens (7%), 8 specimens (30%), and 8 specimens (30%) with histologically proven ovarian carcinoma, respectively.

ascites


Input: The alteration of LIMD1 was highest (50%) in the mild dysplastic lesions and did not change significantly during progression of tumor indicating its association with this stage of the disease.

mild


Input: Alterations of serotonin (5-HT) neurotransmission are implicated in post-stroke depression (PSD).

PSD

stroke


Input: A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

aggrecan

SEMD aggrecan type

aggrecan

SEMD aggrecan type


Input: The hypoxia-inducible factor and vascular endothelial growth factor (HIF-VEGF) pathway in hypoxic conditions of the middle ear due to dysfunction of the eustachian tube is still unknown, but it is considered as one pathogenetic mechanism in otitis media.

VEGF

hypoxic


Input: Our results may suggest the additive effect of ACE and CMA gene polymorphisms on the increase in left ventricular mass in NIDDM patients.

ACE

left ventricular mass


Input: (U87-MG) and intracranial (SNB19) injections of Ad-uPAR-infected glioma cells did not produce tumors in nude mice.

glioma


Input: Both WM115 and WM239 cells expressed VEGF and VEGFR2, the levels of which were modulated by hypoxia.

VEGF

hypoxia


Input: There was a significant decrease in the expression of transcripts for NR1 and NR2A subunits and SAP102 in bipolar disorder.

bipolar disorder

bipolar disorder


Input: The genotype ss491228441TT and the minor allele ss491228441G of the IL10RA were more frequent in the group of asymptomatic children (P = 0. 006 and P = 0. 007, respectively).

asymptomatic


Input: Little is known about the roles of TF and PAR-2 in endometriosis.

PAR

endometriosis


Input: IL-1β (-31), IL-6 (-174,-572,-597), and IL-12B (3' + 1158) genotypes were analyzed with pyrosequencing and analyzed using a regression model for susceptibility (sterile, microbial keratitis, controls) and severity.

regression


Input: To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea.

MCD

MCD


Input: Antisurvival and antiproliferative effects of EGFR-tk inhibition plus/minus irradiation were counteracted by adhesion to Fn relative to the control substratum, poly-L-lysine.

EGFR

adhesion


Input: GJA1 homozygous hypomorphic mutations can result in a phenotype in the HSS/ODDD spectrum.

HSS

HSS


Input: Furthermore, the IFNA10 and IFNA4 mutants resulted in an impairment of the suppression of HCV RNA replication in HuH7 cells, and the administration of the recombinant IFN subtypes restored DSS-induced colonic inflammation through the upregulation of CD4 (+) Treg cells.

inflammation


Input: Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK.

enlargement


Input: The laboratory diagnosis of ataxia-telangiectasia (A-T) currently relies upon measurement of serum alphafetoprotein (AFP) and cellular sensitivity to ionizing radiation.

AFP

telangiectasia


Input: In addition to its magnesium transporter function, TRPM7 has been implicated as a signaling kinase involved in vascular smooth muscle cell growth, apoptosis, adhesion, contraction, cytoskeletal organization, and migration, important processes involved in vascular remodeling associated with hypertension and other vascular diseases.

adhesion


Input: We further find that giant ankyrin-G promotes GABAergic synapse stability through opposing endocytosis of GABAA receptors, and requires a newly described interaction with GABARAP, a GABAA receptor-associated protein.

GABARAP

giant


Input: We provide the first evidence of an abnormal activation of the Bcl-2/adenovirus E1B 19-kDa interacting protein 3 (BNip3) in cells expressing mutant Huntingtin.

adenovirus


Input: PERK silencing results in decreased glioma cell viability and ATP/lactate production upon low glucose stress, which is mediated by partially blocked AKT activation and subsequent inhibition of Hexokinase II (HK2)' s mitochondria translocation.

AKT

translocation


Input: MT-ND1 gene expression was significantly increased in the BD group compared with the C group.

BD

BD


Input: We identified heat shock protein 70 (HSP70) as a protein interactor of both wild type and Crohn mutant NOD2.

Crohn

Crohn


Input: One NKX2-5 mutation-positive child from this family had HLHS, although no mutations were subsequently found in 18 patients with sporadic or familial HLHS.

sporadic


Input: Polymorphisms of the gene encoding the serotonin transporter-specifically, length variation in the serotonin--transporter-linked polymorphic region (5-HTTLPR), a single-nucleotide polymorphism in the 5-HTTLPR (rs25531), and variable number of tandem repeats (VNTR) in the second intron 2 (STin2)--have been implicated in the development of post-stroke depression (PSD).

PSD

stroke


Input: The entire coding region of the RNF213 gene was sequenced in 204 patients with MMD, and corresponding variants were checked in 62 pairs of parents, 13 mothers and 4 fathers of the patients, and 283 normal controls. Clinical information was collected.

MMD

MMD


Input: Knockdown or inhibition of HIF-1α and NF-κB by small interfering RNA or specific small molecule inhibitors blocked IL-17A-mediated and hypoxia-mediated MMP2 and MMP9 expression, cell migration, and invasion.

hypoxia


Input: To further elucidate the function of SOX2 in tumorigenesis of cancer cells, A549 cells were established with expression of luciferase and doxycycline-inducible shRNA targeting SOX2.

tumorigenesis


Input: Higher SLC6A4 promoter methylation status was independently associated with PSD both at 2 weeks and more prominently at 1 year after stroke, and was significantly associated with the worsening of depressive symptoms over one year.

PSD

depressive symptoms


Input: Since homozygous deletions have not previously been reported in RER (+) carcinomas at any genomic site, an extremely high rate of site-specific deletion must exist within the FRA3B-related FHIT gene.

RER

carcinomas


Input: Use of WSLP to deliver hypoxia-responsive driven expression of hVEGF to ischemic rabbit myocardium has proven to provide for even better expression in cardiovascular cells than Terplex and has demonstrated a significant reduction in infarct size (13 +/-4%, p < 0. 001) over constitutive VEGF expression (32 +/-7%, p = 0. 007) and sham-injected controls (48 +/-7%).

VEGF

hypoxia


Input: DDX1 is required for testicular tumorigenesis, partially through the transcriptional activation of 12p stem cell genes.

tumorigenesis


Input: Fully spread GATA-1 platelets incubated with fibrinogen coated gold (Fgn/Au) particles before or after fixation bound as many Fgn/Au particles as normal spread platelets and moved the Fgn/Au-GPIIb/IIIa complexes from peripheral margins to cell centers and into channels of the OCS as efficiently.

fibrinogen


Input: Several ocular abnormalities including retinal dysplasia, ERG abnormalities, and retinal detachments have been reported in patients with MEB.

ERG

abnormalities


Input: In the present study, neuroblastoma cells from a 13-month-old infant boy born after intracytoplasmatic sperm injection were characterized by combining conventional cytogenetics, fluorescence in situ hybridization (FISH), comparative genomic hybridization, and quantitative polymerase chain reaction methods.

FISH

neuroblastoma


Input: BAT represents a diagnostic test with 100% specificity in allergic patients with mastocytosis and these patients are better to be monitored for a longer period during IT.

BAT

mastocytosis


Input: With strong basal promoter activity and induction under hypoxia, pRTP801-VEGF may be useful for gene therapy for ischemic disease.

VEGF

hypoxia


Input: Inhibition of COX2 or the PGE (2) receptors EP2/EP4 in MDSCs suppressed expression of CXCR4 and MDSC responsiveness to CXCL12 or ovarian cancer ascites.

ascites


Input: Evaluation of SAT-1, SAT-2 and GalNAcT-1 mRNA in colon cancer by real-time PCR.

colon cancer


Input: These findings demonstrate that the NUP88-NUP98-RAE1-APC/CCDH1 axis contributes to aneuploidy and suggest that it may be deregulated in the initiating stages of a broad spectrum of human cancers.

aneuploidy


Input: The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III.

WS-I

WS-I


Input: Among women with high-grade serous ovarian cancer, BRCA2 mutation, but not BRCA1 deficiency, was associated with improved survival, improved chemotherapy response, and genome instability compared with BRCA wild-type.

genome instability


Input: FUS/TLS (denoting fused in sarcoma/translocated in liposarcoma [MIM 137070]) codifies an RNA binding protein.

RNA binding protein

sarcoma


Input: Binding assays showed that CD36 was the most common adhesion partner of the parasite panel, followed by ICAM-1 and TSP-1, and that CD36 and ICAM-1 binding variants were highly predicted by adhesion domain sequence classification.

adhesion


Input: NLRP7 mutation analysis in sporadic hydatidiform moles in Tunisian patients: NLRP7 and sporadic mole.

sporadic


Input: We used an enzyme-linked immunosorbent assay to measure VEGF secretion by transfected cells cultured in hypoxic (1% O2) or nonhypoxic (20% O2) conditions.

VEGF

hypoxic


Input: To investigate the feasibility of NBS for Pompe disease in Japan, we obtained dried blood spots (DBSs) from 496 healthy Japanese controls, 29 Japanese patients with Pompe disease, and five obligate carriers, and assayed GAA activity under the following conditions: (1) total GAA measured at pH 3. 8, (2) GAA measured at pH 3. 8 in the presence of acarbose, and (3) neutral glucosidase activity (NAG) measured at pH 7. 0 without acarbose.

GAA

Pompe disease

GAA

Pompe disease


Input: The expression and mono-ubiquitination of SMAD4 were also analyzed.

mono


Input: We can speculate that these sequence variants (or others in perfect linkage disequilibrium) create a predisposition to high production of OPN, and that this in turn may confer susceptibility to SLE.

OPN

SLE

OPN

SLE


Input: The objective of the current study was to determine the promoter methylation status of GSTP1 and MDR1, which encode GST-pi and P-glycoprotein (Pgp), respectively, in patients with bronchioloalveolar carcinoma (BAC) and to investigate whether methyltransferase 1 (DNMT1)-mediated GSTP1 or MDR1 methylation are responsible for disease progression and prognosis in patients with BAC.

methyltransferase 1

bronchioloalveolar carcinoma


Input: The translocation events occurred between exons 3 and 7 of the RUNX1 gene.

RUNX1 gene

translocation


Input: Importantly, HUVEC migration and tube formation induced by supernatants from lung adenocarcinoma cells lacking either or both MIF and D-DT are substantially reduced when compared with normal supernatants.

D-DT

lung adenocarcinoma


Input: Hypermethylation of the RASSF1A [Ras association (RalGDS/AF-6) domain family member 1A] gene is frequently observed in hepatocellular carcinoma (HCC).

hepatocellular carcinoma


Input: Intraventricular administration of FSH, ACTH or prolactin caused hyperthermia, increased metabolism and/or cutaneous vasoconstriction.

ACTH

hyperthermia

ACTH

hyperthermia


Input: We report here that suppression of both EGFR and c-erbB-2 results in regression of aneuploidy and genomic imbalances in NIH: OVCAR-8 cells, restores a more normal phenotype, and results in a more normal gene expression profile.

EGFR

regression


Input: One showed growth retardation, craniofacial dysmorphism, syndactyly, developmental delay and a de novo deletion (~ 8. 5Mb) on chromosome 7q21. 13-q21. 3, including DLX5 and DLX6.

syndactyly


Input: When we used the median expression levels of the NER proteins in the controls as cutoff values, we found that a significantly increased risk of SCCHN was associated with low expression of XPA [odds ratio (OR), 2. 99; 95% confidence interval (CI), 1. 22-7. 47], XPC (OR, 2. 46; 95% CI, 1. 04-5. 87), XPD (OR, 3. 02; 95% CI, 1. 18-7. 76), and XPF (OR, 5. 29; 95% CI, 2. 01-13. 9), but not ERCC1 and XPG, after adjustment for age, sex, ethnicity, smoking, alcohol use, and sample storage time.

NER

smoking


Input: We observed several statistically significant interactions after adjustment for multiple comparisons, including interactions between our dietary oxidative balance score and CD40LG and TNFSF1A; between cigarette smoking and TLR1, TLR4, and TNF; between body mass index (BMI) among pre-menopausal women and TRAF2; and between regular use of aspirin/non-steroidal anti-inflammatory drugs and TLR3 and TRA2.

body mass index


Input: Analyses revealed that alleles G, T and C at the SNPs HSPA1A + 1911 C/G, HSPA1A + 438 C/T and HSPA1L + 2437 T/C, respectively, were associated with protection from serious hypersensitivity reactions to CBZ, with the associated alleles falling on a common haplotype.

hypersensitivity reactions


Input: We found that angiopoietin-like protein 2 (Angptl2) was secreted by adipose tissue and that its circulating level was closely related to adiposity, systemic insulin resistance, and inflammation in both mice and humans.

inflammation


Input: DFSP often reveals a specific chromosome translocation, t (17; 22) (q22; q13), which results in the fusion of collagen 1 alpha 1 (COL1A1) gene and platelet-derived growth factor-B (PDGFB) gene.

PDGFB

chromosome translocation


Input: We constructed an IL-24/OSM bicistronic adenovirus and assessed its combined effect on A375 human melanoma cells in vitro and in vivo by detecting and comparing apoptosis in the bicistronic antioncogene group (Ad-IL-24-OSM) and in the IL-24 or OSM single antioncogene group.

OSM

melanoma


Input: The strongest and most significant inverse correlations between serum MBL and respiratory disease were found in patient group III and in 17 patients with multiple humoral and/or cellular abnormalities.

MBL

abnormalities


Input: Mutants of the mineralocorticoid receptor cannot explain the frequent syndrome of pre-eclampsia.

mineralocorticoid receptor

pre-eclampsia


Input: These polymorphisms could also be associated with increased risk for disorders such as sepsis and necrotizing enterocolitis, which lead to renal hypoperfusion and ARF.

ARF

sepsis


Input: The genomic expression of 20 stroma-derived factors, including the androgen receptor (AR), growth factors (FGF2, FGF7, FGF10, HGF, TGFβ, PDGFB), protein implicated in invasion (MMP-2, MMP-9 and MMP-11), inflammation (IL-6, IL-17, STAT-3 and NFκB), stroma/epithelium interaction (CDH11, FAP, CXCL12 and CXCL14) and chaperones (HPA1A and HSF1), was evaluated in cultured fibroblasts both from BHP and prostate carcinomas (PCa).

inflammation


Input: Four weeks after VEGF or CBD-VEGF was injected into the infarct border zone, cardiac function detected by echocardiography and hemodynamics was preserved in the CBD-VEGF group.

VEGF

infarct


Input: Further investigations revealed that knock-down of AGO2 by custom-made AGO2 siRNA in HEK-293 cells resulted in silencing of the expression of target genes vascular endothelial growth factor A and histone deacetylase 2, which are known to be involved in the development of myeloid leukaemia.

histone deacetylase 2

myeloid leukaemia

histone deacetylase 2

myeloid leukaemia


Input: Overexpression of Trx also caused a significant increase of VEGF in protein and RNA levels under normoxic and hypoxic conditions.

VEGF

hypoxic


Input: This finding suggests a loss-of-function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out.

ADPEAF

ADPEAF


Input: CD39 decreased inflammation, organ damage, immune cell apoptosis, and bacterial load.

inflammation


Input: Not carrying at least 1 IGF1 (CA) 19 repeat allele and a high body mass index explained 8% and 14%, respectively, of the variation IGFBP3 levels.

body mass index


Input: Cox regression survival analysis indicated that an increased probability of death or new vascular events was found in patients with GCH1 3'-UTR + 243 C/T or T/T genotype compared with those with GCH1 3'-UTR C/C genotype (40. 6% vs 25. 5%), GCH1 3'-UTR + 243 C/T or T/T genotype relative to GCH1 3'-UTR C/C genotype was associated with the increased risk of death or vascular events even after adjustment for other risk factors (OR = 2. 171, 95% CI: 1. 066-4. 424, P = 0. 033).

regression


Input: Here we show that p70 (S6K) functions in epithelial to mesenchymal transition (EMT) responsible for the acquisition of invasiveness during tumor progression.

EMT

tumor progression


Input: The per-allele increase in body mass index ranged from 0. 16 units (BAT2) to 0. 38 units (SH2B1).

body mass index


Input: Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.

Androgen receptor

androgen insensitivity syndrome

Androgen receptor

androgen insensitivity syndrome


Input: Germ line and somatic mutations in MLH3 have been identified in a small fraction of colorectal cancers, but the role of MLH3 in colorectal cancer tumorigenesis remains controversial.

tumorigenesis


Input: Together with the previous identification of mutations in HARS2, encoding mitochondrial histidyl-tRNA synthetase, mutations in CLPP expose dysfunction of mitochondrial protein homeostasis as a cause of Perrault syndrome.

CLPP

Perrault syndrome

CLPP

Perrault syndrome


Input: The inductive effect of sustained endotoxemia relative to pair-fed controls could not be explained by differences in expression of GHR, SOCS-3, or CIS but coincided with normalized PEPCK and IGFBP-1 levels, suggesting better hepatic insulin sensitivity in these animals.

insulin sensitivity


Input: The frequency of factor V Leiden in SLE patients in comparable to that in the Dutch population (5%) and a risk factor for venous thrombosis (odds ratio 4. 9; CI 1. 2-19. 6), but not for arterial thrombosis.

factor V Leiden

arterial thrombosis


Input: The authors examined the relation between long-term obesity and common mental disorders (CMD) by utilizing the known relation between fat mass and obesity-associated (FTO) genotype and body mass index (BMI; weight (kg)/height (m) (2)).

FTO

height


Input: Immunohistochemistry confirmed expression of c-myb in the lesional skin of the majority of CTCL patients with a tendency towards higher expression in SS (1. 86 +/-0. 5) versus MF (1. 2 +/-0. 7) while c-myb was absent from the lesional skin of patients with inflammatory skin diseases.

c-myb

skin diseases


Input: Their shared chromosomal deletion encompassed MN1, PITPNB and TTC28.

chromosomal deletion


Input: Overall, we found 52 different pathogenic PMS2 variants explaining 121 Lynch syndrome and nine CMMRD patients.

CMMRD

CMMRD


Input: Single nucleotide polymorphisms (SNPs) in the leptin receptor are associated with measures of body weight.

leptin receptor

body weight


Input: The ACE genotype of all subjects was determined by PCR and correlated with left ventricular mass (LVM) indices.

ACE

left ventricular mass


Input: These data confirm the influential role of the FTO gene in obesity in the French female population and, in addition, revealed the role of FTO in insulin resistance and MetS.

FTO

insulin resistance


Input: Furthermore, deletion of PKM2 negatively impacted hypoxia-induced HIF-1α accumulation and promoter activity ultimately resulting in impaired secretion of VEGF.

VEGF

hypoxia


Input: Coding variants at hexa-allelic amino acid 13 of HLA-DRB1 explain independent SNP associations with follicular lymphoma risk.

follicular lymphoma

follicular lymphoma


Input: The association with GSTT1 was present among both smokers and nonsmokers, but was modified by body mass index, a recognized risk factor for RCC; among subjects in the lowest tertile of body mass index, the OR for GSTT1 null was 4. 8 (95% CI, 1. 8-13. 0).

body mass index


Input: The CD44 (sol) transfected cells showed higher cell proliferation and clonal growth in vitro, confirmed by MTT and clonogenic assays respectively, when compared to the control cells.

sol


Input: We postulate that the Rac2-MRC-cIII pathway triggers ROS-mediated genomic instability in LSCs and primitive LPCs, which could be targeted to prevent the relapse and malignant progression of CML.

genomic instability


Input: The VEGF/PEDF ratio favored angiogenesis (> 1. 0) at P14 and P 18 when intravitreous neovascularization occurred in the ROP model.

neovascularization


Input: Haemophilia A is the most common X-linked blood coagulation disorder; it is caused by deficiency of factor VIII activity (FVIII: C).

FVIII

Haemophilia A

FVIII

Haemophilia A


Input: A minimal difference in avascularity was observed at postnatal day 12 in the retinas of TRAIL (-/-) mice after hyperoxia-exposure compared with wild-type mice, suggesting that TRAIL does not play a major role in the vaso-obliterative phase of oxygen-induced retinopathy.

TRAIL

retinopathy


Input: As uncontrolled expression of c-myc is known to induce apoptosis, we thought that polymorphism in the other myc gene, L-myc gene, which is structually similar to c-myc and reported to be expressed in the kidney, may have a role in the induction of apoptosis and thus have role in chronic renal failure.

myc gene

chronic renal failure


Input: A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia.

translocation


Input: FACS analysis revealed Vbeta subset expansions of CD4 (+) and CD8 (+) T cells from the liver or bile duct remnant in all patients with biliary atresia and only 1 control.

biliary atresia


Input: In addition, the IL-17A and IL-17F polymorphisms can interact with smoking and drinking to enhance the risk of OSCC developing.

drinking


Input: Targeted knockdown of the death-associated protein kinase (DAPK) expression in the endometrial adenocarcinoma HHUA cells reportedly induces cell death by enhancing the tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)-mediated apoptosis in an autocrine/paracrine manner.

TRAIL

endometrial adenocarcinoma


Input: TNF-alpha protein was detectable by immunohistochemistry in blood eosinophils of hypereosinophilic subjects, and purified blood eosinophils from three atopic donors exhibited cycloheximide-inhibitable spontaneous release of TNF-alpha in vitro.

TNF-alpha

atopic


Input: However, many human melanoma cells do not express beta3 integrins.

melanoma


Input: A recombinant adenovirus-5 vector containing a CMV promoter and wt-p53 cDNA, called Ad-p53, was established and transduced to ARO and ARO-N cells.

ARO

adenovirus


Input: Human: ten patients with heterozygous mutations in DSP without overt structural heart disease (DSP +) and 12 controls with supraventricular tachycardia were studied by high-density electrophysiological mapping of the right ventricle.

DSP

heart disease


Input: Recommended management options aimed toward maximizing safety and optimizing neurocognitive outcome include: (1) biannual then annual in-hospital comprehensive evaluation with (i) physiologic studies during awake and asleep states to assess ventilatory needs during varying levels of activity and concentration, in all stages of sleep, with spontaneous breathing, and with artificial ventilation, and to assess ventilatory responsiveness to physiologic challenges while awake and asleep, (ii) 72-hour Holter monitoring, (iii) echocardiogram, (iv) evaluation of ANS dysregulation across all organ systems affected by the ANS, and (v) formal neurocognitive assessment; (2) barium enema or manometry and/or full thickness rectal biopsy for patients with a history of constipation; and (3) imaging for neural crest tumors in individuals at greatest risk based on PHOX2B mutation.

breathing


Input: The aim of the study was to investigate the possible association between polymorphisms of HPA axis genes-CRHR1 (corticotrophin-releasing hormone receptor), NR3C1 (glucocorticoid receptor) and AVPR1B (arginine vasopressin receptor) and dimensions of bipolar disorder assessed by OPCRIT.

arginine vasopressin

bipolar disorder

arginine vasopressin

bipolar disorder


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

heparin-binding EGF-like growth factor

gastric cancer

heparin-binding EGF-like growth factor

gastric cancer


Input: Here, we found reduced PDYN mRNA expression in the postmortem human amygdala nucleus of the periamygdaloid cortex (PAC) in both heroin abusers and MDD subjects.

PDYN

MDD

PDYN

MDD


Input: The effect of CXCR4 silencing on epithelial-mesenchymal transition related genes in glioma U87 cells.

glioma


Input: Maspin showed a significantly increased expression in endometrial cancer samples compared with the control group and was up-regulated by a mean factor of 46. 54 (SE range, 2. 367-1160. 26; 95% confidence interval, 0. 515-15001, P < 0. 0001).

Maspin

endometrial cancer


Input: p73 and p63 are new members of the p53 tumor suppressor family, which are becoming increasingly recognized as important players in human tumorigenesis.

tumorigenesis


Input: API2-MALT1 fusion and aneuploidy are common chromosomal abnormalities in MALT lymphoma.

aneuploidy


Input: We also confirmed the observations made with experimental mouse models: ESPL1-overexpressing luminal tumors showed complex genomic profiles and molecular features of chromosomal instability and loss of tumor suppressor genes (P53 and Rb).

chromosomal instability


Input: To localize indoleamine 2, 3-dioxygenase (IDO) mRNA and protein and to undertake a functional study at the first trimester fetal-maternal interface in order to determine whether the distribution and function of IDO are related to recurrent spontaneous abortion (RSA).

IDO

spontaneous abortion


Input: In the current study, we show that IL-1beta induces destruction of INS-1 insulinoma cells, while having no effect on a second insulinoma cell line RIN1046-38 and its engineered derivatives, and that this difference is correlated with a higher level of expression of manganese superoxide dismutase (MnSOD) in the latter cells.

manganese superoxide dismutase

insulinoma


Input: The leukemic fusion gene AML1-MDS1-EVI1 (AME) encodes a chimeric transcription factor that results from the t (3, 21) (q26; q22) translocation seen in patients with acute myeloid leukemia, with therapy-related myelodysplastic syndrome, or with chronic myeloid leukemia in blast crisis.

translocation


Input: Characterization of the t (14; 18) BCL2-IGH translocation in farmers occupationally exposed to pesticides.

translocation


Input: We sought to investigate whether genetic variation in GSNOR is associated with childhood asthma and atopy.

GSNOR

atopy


Input: Positive association between EGFR mutation and age among never-smokers regardless of sex might indicate that EGFR mutation occurs cumulatively by unidentified internal/external factors other than smoking.

EGFR

smoking


Input: Alterations in the CaR have been proposed to underlie the increases in Ca2 + set-point seen in primary hyperparathyroidism due to parathyroid adenoma.

adenoma


Input: Recently, alpha-synuclein (alpha-SYN) has been identified as the main component of Lewy bodies in sporadic PD, suggesting involvement in neurodegeneration via protein accumulation.

SYN

sporadic


Input: In addition, AML1 and CBFbeta are frequent targets for chromosomal translocation in human leukemia.

chromosomal translocation


Input: Chromosomal analysis showed that As2O3 exposure caused chromosomal end-to-end fusion in human T-cell leukemia cells while downregulation of TRF2 was observed.

human T-cell leukemia

human T-cell leukemia


Input: Isolates of V. cholerae O1 from sporadic cases, on the other hand, appeared to be much more heterogeneous (five different REA patterns detected in the five isolates tested; Dice coefficient, 0. 31 to 0. 81) than those obtained during the two outbreaks.

REA

sporadic


Input: This work demonstrates that JAK2 (V617F) is sufficient for polycythemia and fibrosis development and offers an in vivo model to assess novel therapeutic approaches for JAK2 (V617F)-positive pathologies.

fibrosis


Input: Thus, PLOD2 in addition to causing BS is also associated with AR-OI phenotypes of variable severity.

BS

BS


Input: Our findings indicate that the activation of Notch1 is an important " second hit " for the transformation of E2A (-/-) T cell lymphomas and that Notch1 promotes survival through pre-TCR-dependent and-independent mechanisms.

hit


Input: Here, we report on, for the first time, a female patient with VACTERL association with a 21 base-pair deletion in the exon 1 triplet repeats of HOXD13, a sonic hedgehog (SHH) downstream target.

VACTERL association

VACTERL association


Input: The purpose of this research was to test for association between polymorphisms in the circadian clock-related gene PERIOD2 (PER2) and attrition in patients prone to withdrawal from a behavioral weight-reduction program based on the Mediterranean diet.

weight


Input: Specific polymorphisms in the vitamin D receptor (VDR) gene have been associated with genetic susceptibility to inflammatory bowel disease (IBD) in different ethnic populations.

VDR

bowel disease


Input: In contrast, WIT002 or HET0016 decreased tumor volume, MVD, and spontaneous pulmonary metastasis occurrences.

MVD

pulmonary metastasis


Input: We found that S100A13 was expressed in melanocytic lesions; compared with benign nevi, S100A13 protein expression was significantly upregulated in melanomas (P = 0. 024), in which it correlated positively with the intensity of VEGF-A staining (P = 0. 041) and microvessel density (P = 0. 007).

nevi


Input: Treatment of nude mice with anti-asialo GM (1) antibody temporally abrogated the growth retardation of AsPC-1/IL-21, but not AsPC-1/IL-23 tumors; however, the growth of AsPC-1/IL-21 tumors came to be retarded thereafter with the regeneration of natural killer (NK) cells.

growth retardation


Input: Regulation of anergy-related ubiquitin E3 ligase, GRAIL, in murine models of colitis and patients with Crohn' s disease.

GRAIL

colitis


Input: Transfection with the antagomir anti-miR-181a decreased VEGF protein by 27% in normoxia and 23% in hypoxia.

VEGF

hypoxia


Input: Soluble CD146 was measured by competitive enzyme-linked immunosorbent assay in synovial fluids of 3 healthy individuals and 7 cadavers (controls), as wells as in patients with traumatic joint injury (n = 10), osteoarthritis (OA; n = 10), psoriatic arthritis (PsA; n = 10), other non-RA polyarthritis (NRAP; n = 10), and RA (n = 31).

NRAP

polyarthritis


Input: Transfection of a sense TERE1 construct resulted in an 80-90% inhibition of cellular proliferation in two TCC cell lines and a lack of aneuploidy in the TERE1-transduced J82 cell line.

aneuploidy


Input: Reduced SP4 and SP1 protein levels in the prefrontal cortex have been associated with bipolar disorder and schizophrenia, respectively, suggesting that both factors could be involved in the pathogenesis of disorders with psychotic features.

schizophrenia

schizophrenia


Input: In mice injected with CB2-R targeted micelles, NER (plaque) can be best evaluated at 36-48 h post-injection.

NER

plaque


Input: We observed a family in which two boys were diagnosed with Alport syndrome, elliptocytosis, and mental retardation and carried a large deletion of the Xq22. 3-q23 region, encompassing the COL4A5 gene.

COL4A5 gene

elliptocytosis


Input: Significantly, depletion of JMJD2B impairs the estrogen-induced G (1)/S transition of the cell cycle in vitro and inhibits breast tumorigenesis in vivo.

tumorigenesis


Input: There was significant interaction in this association by BRAF mutation status (P =. 03): smoking was associated with shorter DFS in patients with BRAF wild-type (HR, 1. 36; 95% CI, 1. 11 to 1. 66) but not BRAF mutated (HR, 0. 80; 95% CI, 0. 50 to 1. 29) colon cancer.

BRAF

smoking


Input: TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase.

mulibrey nanism

mulibrey nanism


Input: We analysed hepatic CB1 and CB2 mRNA expression, and the expression of genes involved in lipid metabolism in 72 MO women, subclassified by liver histology into MO with normal liver (NL, n = 16), simple steatosis (SS, n = 28), and nonalcoholic steatohepatitis (NASH, n = 28) by enzyme-linked immunosorbent assay and RT-PCR.

nonalcoholic steatohepatitis


Input: HLA-A24-restricted and tumor-specific CTLs established from T cells infiltrating into lung adenocarcinoma recognized the two antigenic peptides encoded by a cyclophilin B gene, a family of genes for cyclophilins involved in T cell activation.

cyclophilin B

lung adenocarcinoma


Input: These results suggest that the overall expression of PPARG in EMC may be regulated in part by the balance between EWSR1/NR4A3 and NR4A3, and that PPARG may play a crucial role in the development of these tumours.

EMC

EMC


Input: Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with " tonotubular " keratin.

keratin 1

epidermolytic palmoplantar keratoderma

keratin 1

epidermolytic palmoplantar keratoderma


Input: These results indicate that the smaller deletions contain the gene (s), most likely Rai1, causing craniofacial abnormalities and obesity.

obesity

obesity


Input: Eighteen (31%) advanced prostate cancers showed topoIIalpha overexpression; 12 (26%) showed TOP2A low-level amplification; 9 (16%) expressed HER2; and 6 (13%) showed HER2 low-level amplification.

prostate cancers

prostate cancers


Input: Heterozygous PU. 1 mutations were reported in some patients with acute myeloid leukemia (AML), but not in AML with translocation t (8; 21), which gives rise to the fusion gene AML1-ETO.

PU. 1

translocation


Input: Human glioma U87 cells were used.

glioma


Input: Taking into account that another metal ions transporter gene, SLC39A3, is associated to bipolar disorder, our findings reveal a role for brain metal homeostasis in psychosis.

bipolar disorder

bipolar disorder


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

breast cancer


Input: Comparison of clinical characteristics among narcolepsy with and without cataplexy and idiopathic hypersomnia without long sleep time, focusing on HLA-DRB1 (*) 1501/DQB1 (*) 0602 finding.

narcolepsy

narcolepsy


Input: Polymorphisms of serotonin transporter (5-HTT) and brain-derived neurotrophic factor (BDNF) have been investigated as candidate genes for post-stroke depression (PSD).

PSD

stroke


Input: These data show a cross-talk between LPA and EGF limited to a branch of EGFR-mediated signaling, which may be explained by a LPA-induced, G (alphai)-protein-mediated translocation of PLCgamma-1 to EGFR in the absence of detectable tyrosine phosphorylation of both proteins.

LPA

translocation


Input: Importantly, the adult Progerin fish survived and remained fertile with relatively mild phenotypes only, but had shortened lifespan with obvious distortion of body shape.

Progerin

mild


Input: Transgenic models of insulin resistance (heterozygous insulin receptor substrate-1 knockout mice, A-ZIP/F-1 fatless mice, and animals overexpressing glutamine: fructose-6-phosphate amidotransferase) contained increased amounts of farnesylated p21Ras.

ZIP

insulin resistance


Input: In metastatic melanoma cell lines, PAF induced CREB and ATF-1 phosphorylation via a PAFR-mediated signal transduction mechanism that required pertussis toxin-insensitive Galphaq protein and adenylate cyclase activity and was antagonized by a cAMP-dependent protein kinase A and p38 MAPK inhibitors.

CREB

metastatic melanoma


Input: Here we show that expression of COX10 from a retroviral vector complements the COX deficiency in a patient with anemia and Leigh Syndrome, and in a patient with anemia, sensorineural deafness and fatal infantile hypertrophic cardiomyopathy.

COX deficiency

COX deficiency


Input: BPA is able to induce apoptosis in leukemia cells via caspase activation and involvement of both intrinsic and extrinsic pathways of apoptosis.

BPA

leukemia


Input: ATX gene activity was significantly higher in undifferentiated anaplastic thyroid carcinoma cell lines (UTC) and tumor tissues as compared to follicular thyroid carcinoma (FTC) cell lines, FTC tissues or goiter tissues that were used as a control.

ATX

anaplastic thyroid carcinoma


Input: Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

SDHB

mitochondrial complex II deficiency

SDHB

mitochondrial complex II deficiency


Input: Promoter methylation of Reprimo was found in 79% of gastric cancers, 62% of gallbladder cancers, 57% of lymphomas, 56% of colorectal cancers, 40% of esophageal adenocarcinomas, 37% of breast cancers and 31% of leukemias.

Reprimo

leukemias


Input: Two non-responders with a fall in PA-APAs had very high CD8 levels.

fall


Input: Twelve normal skin specimens, 12 specimens of psoriasis, 21 specimens of bowenoid papulosis (BP), 16 specimens of Bowen' s disease (BD), 38 specimens of skin squamous cell carcinoma (SCC), and 11 specimens of basal cell carcinoma (BCC) were subjected to immunohistochemical staining for MCM5 and PCNA.

PCNA

bowenoid papulosis


Input: Furthermore, in multivariate analysis by Cox regression model, high NMHC IIA expression was confirmed to be an independent molecular marker (P = 0. 047), while grade (P = 0. 020) and clinical T stage (P = 0. 049) were also significant prognostic factors.

NMHC IIA

regression


Input: Fludarabine suppressed hypoxia-induced expression of VEGF and its receptor KDR.

VEGF

hypoxia


Input: Apolipoprotein (APO) E genetic polymorphism plays an important role in lipid and lipoprotein metabolism, and has been shown to be associated with the risk of metabolic and cardio-cerebrovascular diseases and late-onset Alzheimer' s disease.

APO

cerebrovascular diseases


Input: Our finding confirms the report of SNRPB mutations in CCMS patients by Lynch et al.

SNRPB

CCMS

SNRPB

CCMS


Input: Also, there was a significant association among decreased CD46 (+) cells with decreased CD4 (+) T cells, apoptosis mediator CD95 and increased CD8 (+) T cells that were protecting patients without emphysema or severe chronic obstructive pulmonary disease.

emphysema


Input: A novel Golgi protein (GOLPH2)-regulated oncolytic adenovirus exhibits potent antitumor efficacy in hepatocellular carcinoma.

Golgi protein

adenovirus


Input: All individuals were evaluated for HFE mutations, complete blood count, coagulation, glucose, kidney function, liver function, viral hepatitis, C-reactive protein, interleukin 6, tumor necrosis factor α, and serum iron, ferritin, and transferrin saturation.

C-reactive protein

viral hepatitis


Input: No abnormalities were found in the genes for Smad2, Smad3, Smad6, and Smad7.

abnormalities


Input: Corticosteroid-binding globulin is a 383-amino acid glycoprotein that serves a hormone transport role and may have functions related to the stress response and inflammation.

Corticosteroid-binding globulin

inflammation


Input: Significant reductions in the biological activity of NODAL alleles are detected among patients with congenital heart defects (CHD), laterality anomalies (e. g.

NODAL

laterality


Input: We have examined a series of probands with EH in order to develop a catalog of mutations in keratin 10.

keratin 10

EH

keratin 10

EH


Input: The growth chart is based on longitudinal height measurements of 79 patients with glycine substitutions in the triple-helical domain of COL2A1.

height


Input: Cellular senescence-inhibited gene (CSIG) protein significantly prolongs the progression of replicative senescence, but its role in tumorigenesis is unclear.

CSIG

tumorigenesis


Input: With slow-activity PON1 or PON192, urinary diethylphosphates (SigmaDEPs) were associated with lower birth weight and dimethylphosphates (SigmaDMPs) with shorter birth length.

birth weight

birth weight


Input: The t (14; 18) translocation, found in most human follicular non-Hodgkin' s lymphomas (NHLs), juxtaposes the Bcl-2 oncogene at 18q21 with the immunoglobulin heavy chain locus at 14q32.

translocation


Input: Nuclear factor-kappaB (NF-kappaB), a key transcription factor thought to play a major role in carcinogenesis, regulates many important signaling pathways involved in tumor promotion.

NF-kappaB

tumor promotion


Input: Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and is lethal in the perinatal period.

SRP

malformations


Input: The investigators constructed a recombinant adenovirus expressing human CD55 (AdCAGCD55).

adenovirus


Input: Myshkin mice (Myk/+) carry a heterozygous missense mutation in the neuronal Na (+), K (+)-ATPase & #945; 3 and model mania-related symptoms of bipolar disorder including increased activity, risk-taking behavior and reductions in sleep.

ATPase

mania

ATPase

mania


Input: MHC-class II gene analysis showed a significant increase of the HLA-DRB1 * 11 in the asthmatic patients compared with non-atopic controls (allele frequencies of 25. 6 vs 4. 4% P = 0. 0017, PC = 0. 02).

atopic


Input: In this study, whether miRNAs modulate tumorigenesis of gastric cancer cells through targeting MBP-1 was evaluated.

tumorigenesis


Input: An increased risk of esophageal squamous-cell carcinoma was also associated with the FASL-844CC genotype (OR = 2. 06, 95% CI = 1. 64 to 2. 59; P <. 001) compared with the FASL-844CT or TT genotype.

FASL

esophageal


Input: The authors conducted a review and meta-analysis to evaluate the evidence for an association between F12-4C > T and 2 common thrombotic outcomes: venous thromboembolism and myocardial infarction, which are hypothesized to share some etiologic pathways.

myocardial infarction


Input: In this study, we studied the influence of omentin-1 on two types of human hepatocellular carcinoma cells: HepG2 and HuH-7 cells.

omentin

hepatocellular carcinoma


Input: TSU-Pr1 and JCA-1 cells are derivatives of T24 bladder carcinoma cells and are not of prostatic origin.

bladder carcinoma


Input: Although IL-1beta modulated the expression of various cytokines in cultured CECs, its absence in tear fluid and CIC samples suggests that IL-1beta does not play a modulatory role in moderate dry eye.

CIC

dry eye


Input: BRCA1 deficiency exacerbates estrogen-induced DNA damage and genomic instability.

genomic instability


Input: Here, we show that gene transfer technology into DCX-deficient glioblastoma cell lines, such as A172, U87, U251N, RG2, and 9L, with DCX cDNA significantly suppressed growth of these glioma cells.

glioma


Input: These data show that mutations in EZH2 cause Weaver syndrome.

Weaver syndrome

Weaver syndrome


Input: Decreased neutrophil adhesion to human cytomegalovirus-infected retinal pigment epithelial cells is mediated by virus-induced up-regulation of Fas ligand independent of neutrophil apoptosis.

Fas ligand

adhesion


Input: A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.

keratin 17

pachyonychia congenita type 2

keratin 17

pachyonychia congenita type 2


Input: We therefore evidenced marked phenotypic differences in PCAF KO mice depending on the genetic background strain confirming that PCAF histone acetyltransferase is involved lifelong in the chromatin remodelling necessary for memory formation but differentially involved in anxiety and response to stress.

PCAF

anxiety


Input: Our study aimed to investigate the association of 5-HTT gene polymorphism with different facets of aggression (BDHI) in females.

aggression


Input: CD4 (+), CD56 (+) DC2 malignancies constitute a novel disease entity, which has recently been shown to arise from a transformed lymphoid-related plasmacytoid dendritic cell (DC2).

malignancies


Input: By using a pair of primers recognizing a 280-bp region within the 630-bp 5' PTI-1 sequence, reverse transcription-PCR detects PTI-1 expression in patient-derived prostate carcinomas but not in normal prostate or benign hypertrophic prostate tissue.

PTI

carcinomas


Input: This, together with previously demonstrated inhibition of atlastin-1 of BMP pathway, further supports the role of this signaling cascade in axonal maintenance and axonal degeneration, which is seen in various types of HSP.

atlastin

axonal degeneration


Input: Here, we demonstrate that expression levels of HATs, p300 and CBP [CREB (cAMP-response-element-binding protein)-binding protein] were decreased during chemical hepatocarcinogenesis, whereas expression of MOZ (monocytic leukaemia zinc-finger protein; MYST3)--a member of the MYST [MOZ, Ybf2/Sas3, Sas2 and TIP60 (Tat-interacting protein, 60 kDa)] acetyltransferase family--was induced.

hepatocarcinogenesis


Input: Screening of the 3' region (exons 93-105) of the RYR1 gene for mutations in 27 apparently unrelated patients with either central core disease or core/rod disease by single strand conformation polymorphism analysis and DNA sequencing identified three described and nine novel mutations in 15 patients.

central core disease

central core disease


Input: Negative or patchy staining (& lt; 50% cells) for CK7 and/or parvalbumin strongly favors the diagnosis of oncocytoma.

parvalbumin

oncocytoma

parvalbumin

oncocytoma


Input: In total 196 bladder cancer patients from the St.-Josefs-Hospital Dortmund-Hörde and 235 controls with benign urological diseases were assessed by questionnaire and genotyped for GSTM1, glutathione S-transferase T1 (GSTT1), and the N-acetyltransferase 2 (NAT2) tag SNP rs1495741.

urological diseases


Input: Sequencing of candidate genes LMNA, PPARG, AKT2, caveolin-1, as well as the PPARG4 promoter gene, which are known to be associated with familial partial lipodystrophy, revealed no genetic abnormalities, suggesting that this case may involve a novel gene.

familial partial lipodystrophy

familial partial lipodystrophy


Input: We analyzed the incidence of KRAS, BRAF and PIK3CA mutations, microsatellite instability (MSI) status and loss of the DNA repair proteins MLH1, MSH2, MSH6 and MGMT in a series of 89 SAC, 81 matched conventional carcinomas (CC) and 13 sporadic colorectal cancer showing histological and molecular features of high-level MSI (sMSI-H).

sporadic


Input: A novel promoter polymorphism in the human gene GNAS affects binding of transcription factor upstream stimulatory factor 1, Galphas protein expression and body weight regulation.

upstream stimulatory factor 1

body weight


Input: In family ANA, candidate gene analysis excluded linkage to loci associated with aneurysm formation, including fibrillin-1, fibrillin-2, and type III procollagen, and chromosome 3p24. 2-p25.

ANA

aneurysm


Input: In eight cases with TCR delta deletion, however, a large number of polyclonal (presumably reactive) T cells were present and, in these lymphomas, the authors could not determine if TCR delta gene deletion occurred in the polyclonal T cells, the neoplastic cells, or both cell populations.

TCR delta gene

lymphomas


Input: A significant association between the CYP2D6 genotype subgroup and the latency of chronic manganese poisoning was also found.

manganese poisoning

manganese poisoning


Input: It is associated with airway obstruction, increased airway hyper-responsiveness (AHR), and ongoing airway and lung inflammation dominated by CD8 lymphocytes and neutrophils.

AHR

airway obstruction


Input: Polyglutamine expansion in ATXN1 favours the formation of a particular protein complex containing RBM17, contributing to SCA1 neuropathology by means of a gain-of-function mechanism.


Input: In 17 out of 25 adrenals, hyperplasia of adjacent ZG was observed with persistent expression of CYP11B2 that was extended to the entire ZG.

hyperplasia


Input: Also, as telomerase production may be under the control of hTERT mRNA, the possibility is great that noncancerous liver tissue with chronic liver diseases acquires HCC when the hTERT mRNA is positive.

HCC

liver diseases


Input: CA9 and CA12 mRNA levels were analyzed by semi-quantitative RT-PCR in comparison with VEGF as an indicator of hypoxia that uncouples the pVHL control.

VEGF

hypoxia


Input: Seven of 12 HCC contained many microvessels intensely stained for GLUT 1, a phenomenon never observed in normal liver.

GLUT 1

HCC

GLUT 1

HCC


Input: These results suggest that reduced MTP activity is crucial to development of alcoholic fatty liver, while promotion of MTP activity by HGF might serve as a therapeutic measure against alcoholic liver steatosis.

HGF

alcoholic fatty liver


Input: Christensen, et al., Reducible poly (amido ethylenediamine) for hypoxia-inducible VEGF delivery, J Control Release, 118 (2), (2007) 254-261].

VEGF

hypoxia


Input: In this study, we evaluated the staining characteristics of PVNS/TGCT and reactive synovitides for CSF1 and CSF1R by in situ hybridization and immunohistochemistry on tissue microarrays and correlated these findings with the recently described translocation.

translocation


Input: Sphingosylphosphorylcholine (SPC) is found at increased in the malignant ascites of tumor patients and induces perinuclear reorganization of keratin 8 (K8) filaments that contribute to the viscoelasticity of metastatic cancer cells.

keratin 8

malignant ascites


Input: In this study, the expression patterns of Dicer, Drosha, and Exportin 5 and the cell proliferation inhibition and apoptosis induced by silencing these genes in urothelial carcinoma of the bladder were determined.

Exportin 5

carcinoma of the bladder


Input: VEGF 5'-flanking sequences mediated transcriptional activation of reporter gene expression in hypoxic Hep3B cells.

VEGF

hypoxic


Input: In tumor biopsy specimens from 32 HCV-positive NHL patients, bcl-2/IgH translocation was detected in 1 of 13 patients with MC syndrome (7. 7%) and 3 of 19 patients without MC syndrome (15. 8%).

translocation


Input: An examination of the association between beta2 adrenergic receptor polymorphisms and multiple sclerosis.

multiple sclerosis


Input: Paraffin sections from pretreatment biopsies of 14 PCLBCLs of the head or trunk and nine PCLBCLs of the legs were investigated for expression of bcl-2 protein using immunohistochemistry, and for the presence of the 14; 18 translocation using polymerase chain reaction (PCR) amplification with primers against both the major breakpoint region (mbr) and the minor cluster region (mcr) of bcl-2.

translocation


Input: Conversely, rectal immunization with gD + CT elicited potent gD-specific cellular immune responses and protection against genital herpes infection through a MyD88-dependent manner.

herpes infection


Input: A rare case of a one-year-old child with Wilms' tumor, aniridia and glaucoma is described, in whom bone marrow chromosome analysis showed the presence of an interstitial microdeletion on the short arm of chromosome 11, presumably involving the p13 band.

glaucoma


Input: Angiogenesis switch leads to the increased production of vascular endothelial growth factor (VEGF) following up-regulation of the hypoxia-inducible transcription factor.

VEGF

hypoxia


Input: Despite the well-documented association between intra-amniotic infection/inflammation (IAI) and preterm birth, NGAL expression in the uterus has not previously been examined.

NGAL

preterm birth


Input: In vivo, bG47Delta-dnFGFR was more efficacious than its nonexpressing parent bG47Delta-empty at inhibiting tumor growth and angiogenesis in both human U87 glioma and mouse 37-3-18-4 MPNST tumors in nude mice.

glioma


Input: While the implantation of a defibrillator appears warranted due to the inducibility at PES, the clinical follow-up provides indication that the class Ic agent propafenone could be effective to prevent episodes of paroxysmal atrial fibrillation.

PES

paroxysmal atrial fibrillation


Input: The aim of the study was to examine the levels of adhesion molecules, high-sensitivity C-reactive protein (hs-CRP) and lipid spectrum of type 2 diabetic subjects with proven silent myocardial ischemia.

CRP

silent myocardial ischemia


Input: However, the ratio between factor XI and C1-INA activity was significantly higher than in normal and urticaria patients.

factor XI

urticaria


Input: Heterogenous MSH6 loss is a result of microsatellite instability within MSH6 and occurs in sporadic and hereditary colorectal and endometrial carcinomas.

sporadic


Input: On the basis of these results, we conclude that GADD45b may be increased in psychosis compensatory to its inability to access gene promoter regions.

psychosis

psychosis


Input: This study did not suggest any relationship between GST variants and risks of glioma; the T1 null genotype may influence the susceptibility of meningioma, but larger studies are needed to substantiate this relationship.

GST

meningioma


Input: Treatment of IPF rats with adenoviral delivery of VEGF resulted in reduced endothelial apoptosis, increased vascularization, and improved PAP due to reduced remodeling but worsened PF.

PAP

vascularization


Input: Although the SUV for (18) F-FDG was significantly lower in endometrial hyperplasia than in carcinoma, a significant difference between high-risk and low-risk carcinoma was observed only in SUV for (18) F-FES.

FES

endometrial hyperplasia


Input: Wild-type rTMD23, but not rTMD23 (I425A), also markedly suppressed the PAR-1, the adhesion molecules expression, and the macrophage content in the carotid ligation model and ApoE-/-mice.

adhesion


Input: Here, we are providing an update on the molecular basis of ASLD by collecting all published (n & #160; = & #160; 67) as well as novel mutations (n & #160; = & #160; 67) of the ASL gene.

ASL

ASLD

ASL

ASLD


Input: Cox regression analysis did not demonstrate significant effects of any of the three genotypes on relapse to smoking: TPH1 (Reference AA; AC: hazard ratio (HR) 0. 99, 95% confidence interval (CI) 0. 78, 1. 24, p = 0. 90; CC: HR 0. 93, 95% CI 0. 73, 1. 18, p = 0. 55); 5-HTTLPR (Reference LL; SL: HR 1. 01, 95% CI 0. 85, 1. 20, p = 0. 90; SS: HR 1. 13, 95% CI 0. 91, 1. 39, p = 0. 27); HTR1A (Reference CC; CG: HR 1. 04, 95% CI 0. 86, 1. 25, p = 0. 70; GG: HR 1. 01, 95% CI 0. 82, 1. 24, p = 0. 93).

smoking


Input: The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi.

epidermal nevi

epidermal nevi


Input: SKY confirmed 10 and refined the interpretation of three balanced aberrations recognized by G-banding and identified another nine balanced aberrations, including a novel translocation involving the RUNX1 gene.

RUNX1 gene

translocation


Input: We recently discovered that pheochromocytomas developing in rats affected by the MENX (multiple endocrine neoplasia-like) syndrome express at very high-level Sctr, encoding SR. We here report that SR are also highly abundant on the membranes of rat adrenal and extraadrenal pheochromocytoma, starting from early stages of tumor development, and are functional.

Sctr

multiple endocrine neoplasia


Input: We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.

bipolar disorder

bipolar disorder


Input: Induction of VEGF expression might indicate relative hypoxia of the specimen due to insufficient vascularization.

VEGF

hypoxia


Input: Thus, even important for cardiac development, germline mutations in NKX2. 5 are rare in patients with sporadic CHD and genetic and/or pathophysiologic heterogeneity is likely for sporadic forms of CHD.

NKX2. 5

sporadic


Input: Mutations in the RNA-and DNA-binding proteins, fused in sarcoma (FUS) and transactive response DNA-binding protein 43 kDa (TDP-43), are responsible for 5-10% of familial and 1% of sporadic ALS cases.

FUS

sporadic


Input: As similar truncated RUNX1 proteins are generated by genetic aberrations including chromosomal translocations and point mutations, we used the t (1; 21) (p32; q22) chromosomal translocation as a model to explore whether C-terminally truncated RUNX1 proteins trigger effects similar to those induced by well-characterized leukemogenic RUNX1 fusion genes.

chromosomal translocation


Input: The VEGF (+) tumors contained large avascular cavities at days 11 and 21, which were replaced by basement membrane-lined channels at day 30.

VEGF

cavities


Input: These results implied that nucleostemin may play an important role in both tumorigenesis and transforming human embryonic bone marrow mesenchymal stem cells into F6 tumor cells.

nucleostemin

tumorigenesis


Input: Both SAMP lyase and LSA are very good early indicators of hepatic tumor with SAMP lyase an earlier indicator of breast tumor than LSA.

SAMP

breast tumor


Input: These results implicate anandamide and vascular CB1 receptors in the vasodilated state in advanced cirrhosis and indicate a novel approach for its management.

cirrhosis

cirrhosis


Input: In human leukemias, the RUNX1 gene is involved in various chromosomal translocation events that create oncogenic fusion proteins, at least some of which appear to function as dominant-negative inhibitors of the normal gene product.

RUNX1 gene

chromosomal translocation


Input: PTEN (phosphatase and tensin homologue, deleted on chromosome 10) is a tumor suppressor with dual phosphatase activity and mutations of its gene, PTEN, have been associated with many sporadic cancers and heritable neoplasia syndromes, including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

tensin

sporadic


Input: Immunoprecipitation and immunoblot results showed that PP2 and MK801 significantly decreased the activation of Src, HPK1, MLK3, JNK3 and c-Jun, respectively, during ischemia/reperfusion.

ischemia


Input: While VEGF' s potential as a protective factor has been demonstrated in hypoxia-ischemia, in vitro excitotoxicity, and motor neuron degeneration, its role in seizure-induced cell loss has received little attention.

VEGF' s

hypoxia


Input: We identified two previously unrecognized JAK2 mutations and three previously unrecognized MPL mutations in JAK2 V617F-negative PV, erythrocytosis, and IMF patients.

MPL

erythrocytosis


Input: Ratios of 17. 5-/22-kDa GH1 transcripts in CLs from family members with the same IGHD II mutation correlated with differences in their height SD scores.

height


Input: Reflecting therapy standards, we applied in our in vitro model fractionated RT with a single dose of 2Gy and clinically relevant concentrations of CT. Not only the impact of RT and/or CT with TMZ and/or VPA on the clonogenic potential and cell cycle of the glioblastoma cell lines T98G, U251MG, and U87MG was analyzed, but also the resulting cell death forms and release of danger signals such as heat-shock protein70 (Hsp70) and high-mobility group protein B1 (HMGB1).

shock


Input: Thus, mutations in the H3K36 trimethyltransferase SETD2 have been reported as a potential cause of MSI.

MSI

MSI


Input: High GCS expression was significantly associated with poor differentiation (P = 0. 01), lymph node metastasis (P = 0. 004), recurrence/distant metastasis (P = 0. 006), and chemotherapy resistance (P = 0. 025).

GCS

lymph node metastasis


Input: Our data show that BDNF probably facilitates the tumorigenesis of lung SCC and ADC.

BDNF

tumorigenesis


Input: We assessed the impact of LGI1 microrearrangements in a collection of ADLTE families and sporadic lateral temporal epilepsy (LTE) patients, and investigated novel ADLTE and LTE patients.

sporadic


Input: After adjusting age, gender, alcohol drinking, smoking, education, history of diabetes mellitus and primary hypertension, the analysis showed: (1) the ACT AT and TT genotypes increased the risk of cerebral hemorrhage (OR = 2. 33 and 2. 17 respectively, P < 0. 05), but were not associated with primary hypertension.

ACT

primary hypertension


Input: The same cortical areas displayed concomitant up-regulation of several glutamate and GABA (A) receptor subunits, of which GABA (A) alpha1 and GABA (A) beta3 showed selectivity for individuals who had died by suicide, indicating their potential utility as biomarkers of suicidality.

suicide


Input: Storage of RBC at-20 degrees C for 6 weeks resulted in significant reductions in highly unsaturated fatty acid levels in polar lipids of patients with regressive autism, compared to patients with classical autism or ASP, or controls.

ASP

autism


Input: Our findings suggest that endogenous tPA plays an important role in heparin-produced cerebral hemorrhage via MMP9 induction and activation.

tPA

cerebral hemorrhage

tPA

cerebral hemorrhage


Input: These results show that local factors, such as hypoxia, can regulate VEGF expression in the endometrium.

VEGF

hypoxia


Input: Pretreatment with diazepam blocked the seizures as well as the elevation of BDNF mRNA.

BDNF

seizures

BDNF

seizures


Input: Therefore, targeting the TLR3 pathway may be a promising approach to preventing pathologic angiogenesis in RA.

pathologic angiogenesis


Input: We genotyped the SLC22A4 and SLC22A5 variants and other polymorphisms across the risk haplotype in four populations of European origin, and applied regression-based haplotype analysis to over 1, 200 fully genotyped case-control pairs, modeling case/control status on the presence of one or more SNPs to test for conditional association and to identify risk haplotypes.

regression


Input: We found that FOXM1 was expressed in all of the melanoma cell lines, and was expressed in 49% of primary melanomas, 67% of metastatic melanomas and 10% of nevi by performing immunohistochemical staining.

nevi


Input: Media from hypoxic RPE cells was used to grow human umbilical vein endothelial cells (HUVECs).

RPE

hypoxic


Input: Our results showed that the expression of STIM1 mRNA was significantly higher in human lung tumors than that in adjacent non-neoplastic lung tissues.

lung tumors

lung tumors


Input: Among cases, promoter methylation of miR-137 was associated with female gender (OR = 5. 30, 95% CI: 1. 20-23. 44) and inversely associated with body mass index (BMI) (OR = 0. 88, 95% CI: 0. 77-0. 99).

body mass index


Input: RT-PCR and Western blot analyses of blast cell protein lysates suggest that approximately 50% of BII leukemias overexpress Ikaros 6 RNA and protein.

BII

leukemias


Input: Bcl-XL is an important antiapoptotic member of the Bcl-2 family and is overexpressed in several solid tumours, including mesothelioma.

Bcl-XL

mesothelioma


Input: Lentivirus mediated shRNA interference targeting MAT2B induces growth-inhibition and apoptosis in hepatocelluar carcinoma.

carcinoma


Input: Thus, production of the TEL/AML1 protein by translocation of human chromosome 12; 21 may contribute to leukemogenesis by the specific inhibition of AML1-dependent activation of myeloid promoters.

translocation


Input: Glo1 is linked to healthy aging, obesity, diabetes and diabetic complications, chronic renal disease, cardiovascular disease, other disorders and multidrug resistance in cancer chemotherapy.

cardiovascular disease


Input: We here report on eight patients from six independent families showing that mutations in the OPA1 gene can also be responsible for a syndromic form of DOA associated with sensorineural deafness, ataxia, axonal sensory-motor polyneuropathy, chronic progressive external ophthalmoplegia and mitochondrial myopathy with cytochrome c oxidase negative and Ragged Red Fibres.

OPA1 gene

motor polyneuropathy


Input: Deletion of FHL2 protein by FHL2 small interfering RNA impaired VEGF production under hypoxia conditions, and also suppressed endothelial progenitor cell angiogenic functions, but these effects could be recovered by administration of VEGF.

VEGF

hypoxia


Input: Hypoxia-selectivity of TPZ was also demonstrated by preferential downregulation of several important hypoxia-induced markers (HIF-1α, CA IX and VEGF) under hypoxia.

VEGF

hypoxia


Input: Two members of a family who showed intrauterine and postnatal growth retardation, with increased serum IGF-I levels, demonstrated a substitution of arginine for glutamine at 481 (R481Q) in the IGF-IR.

IGF

postnatal growth retardation


Input: By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying alpha-Gal A deficiency in 16 individuals from six unrelated families with FD.

alpha-Gal A

FD

alpha-Gal A

FD


Input: Hereditary nonpolyposis colorectal cancer (HNPCC) (Amsterdam criteria) is often caused by mutations in mismatch repair (MMR) genes, and tumors of patients with HNPCC show microsatellite instability (MSI-high phenotype).

MMR

microsatellite instability


Input: Histological analysis of 143 endarterectomized human carotid atherosclerotic plaques revealed that ATG16L1 was expressed in areas surrounding the necrotic core and the shoulder regions.

necrotic


Input: The identification of a novel SCN2A mutation in a family with infantile seizures with onset between 6 and 8 months provides further confirmation that this gene is not specifically associated with BFNIS and is also involved in families with a delayed age of onset.

BFNIS

BFNIS


Input: The IL23/IL17 pathway is pivotal in the development of chronic mucosal inflammation seen in Crohn' s disease (CD).

mucosal inflammation


Input: We have analyzed the oncogene rearrangements involving BCL2 and MYC in the leukemia cells of a patient with an aggressive prolymphocytic leukemia that had an abnormal karyotype including a t (14; 18) translocation and a chromosome 17q +.

translocation


Input: Gene-targeted HSL-deficient (HSL-/-) male mice are infertile, have a 2-fold reduction in testicular mass, a 2-fold elevation of the ratio of esterified to free cholesterol in testis, and unique morphological abnormalities in round and elongating spermatids.

HSL

infertile


Input: Here, we identify homozygous nonsense and missense mutations in the orphan gene C20orf72 in three families with a mitochondrial syndrome characterized by external ophthalmoplegia, emaciation and respiratory failure.

ophthalmoplegia

ophthalmoplegia


Input: A de novo missense mutation (Arg359Trp) in the alpha-helix of the first zinc-finger domain of the EGR2 transcription factor was identified in a patient diagnosed with a clinical phenotype consistent with DSS.

DSS

DSS


Input: Local infusion of DKK1 in rats caused neuronal cell death and astrocytosis in the CA1 region of the hippocampus and death of cholinergic neurons in the nucleus basalis magnocellularis.

astrocytosis


Input: Alternatively, PKC-eta translocation to the p/c fraction was induced slowly, taking more than 5 min, and was reduced to approximately half-maximum at 30 min, whereas PKC-zeta translocation reached a maximum at 30 s, rapidly returning to baseline by 5 min after PV-IgG stimulation.

PKC-zeta

translocation


Input: The purpose of the present study was to determine whether TMP influences the migratory ability of a human ovarian carcinoma cell line (SKOV3) via regulation of IL-8 expression in vitro.

TMP

ovarian carcinoma


Input: Epidermal growth factor receptor inhibition promotes desmosome assembly and strengthens intercellular adhesion in squamous cell carcinoma cells.

Epidermal growth factor receptor

adhesion


Input: Further experiments demonstrated strongly reduced adhesion of colony-forming cells from ICSBP (-/-) bone marrow to fibronectin.

ICSBP

adhesion


Input: WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kallmann syndrome

Kallmann syndrome


Input: The aim of the study was to define the genetic defect in a new case of bilateral PHEO and multiple PGLs associated with congenital polycythemia.

PGLs

polycythemia


Input: Moreover, NGAL is required for BCR-ABL-induced tumorigenesis.

NGAL

tumorigenesis


Input: Family-based transmission disequilibrium test (TDT) and case-control association studies reveal surfactant protein A (SP-A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race differences.

TDT

respiratory distress syndrome


Input: Here we show that mutations in the transforming growth factor-& #946; (TGF-& #946;) ligand Growth Differentiation Factor 6, which specifies the dorso-ventral retinal axis, contribute to Leber congenital amaurosis.

Growth Differentiation Factor 6

Leber congenital amaurosis

Growth Differentiation Factor 6

Leber congenital amaurosis


Input: Point mutations in the RUNX1/AML1 gene are also observed in specific subtypes of AML, in addition to RUNX1 being the most frequent target for chromosomal translocation in AML.

chromosomal translocation


Input: The role of Reg IV gene and its encoding product in gastric carcinogenesis.

IV gene

carcinogenesis


Input: The CARD15 2936insC mutation and TLR4 896 A > G polymorphism in African Americans and risk of preterm premature rupture of membranes (PPROM).

preterm premature rupture of membranes


Input: Necrotizing fasciitis (NF) is a rapidly progressive, life-threatening soft-tissue infection that is traditionally caused by group A Streptococcus (GAS) or mixed aerobic/anaerobic bacteria.

GAS

rapidly progressive


Input: Vacuolar protein sorting 4B (VPS4B), a member of ATPase family proteins, reportedly possesses multiple biological functions, such as regulating the development of breast cancer and non-small-cell lung cancer, participating in Parkinson' s disease, and modulating neuronal apoptosis after cerebral ischemia.

lung cancer


Input: Role of xanthine oxidase activation and reduced glutathione depletion in rhinovirus induction of inflammation in respiratory epithelial cells.

xanthine oxidase

inflammation


Input: Our results suggest that HCN1 protein could be a potential target for treatment of anxiety and depression disorders.

depression

depression


Input: In vivo, changes observed in p66 +/+ mice after 6-week exposure to ethanol in the drinking water, including elevated serum alanine aminotransferase (ALT), liver swelling and evident liver steatosis, were significantly attenuated in p66-/-mutant mice.

liver steatosis


Input: Overexpression of MDM2, p53, and NCAM proteins in human radiation-induced skin ulcers.

skin ulcers


Input: These results indicate that liposomal delivery of HSP72 inhibits ischemia-induced renal tubular cell apoptosis by preventing NF-kappaB activation and subsequent TNF-alpha production.

ischemia


Input: Eighty-four patients (all but 2 followed up for 8. 8 +/-5. 7 years) with ASP (57 with adrenal tumors, 27 with extra-adrenal, multiple, malignant, or recurrent tumors) were screened for the major susceptibility genes for phaeochromocytoma (RET, VHL, SDHD, and SDHB).

VHL

phaeochromocytoma

VHL

phaeochromocytoma


Input: Primary epithelioid sarcoma of bone: report of a unique case, with immunohistochemical and fluorescent in situ hybridization confirmation of INI1 deletion.

sarcoma of bone


Input: MRI is specifically not recommended for screening women at average risk for breast cancer.

MRI

breast cancer


Input: In invasive breast cancer, expression of DDX3 was correlated with overexpression of HIF-1α and many other hypoxia related proteins, pointing to a distinct role for DDX3 under hypoxic conditions and supporting the oncogenic role of DDX3 which could have clinical implication for current development of DDX3 inhibitors.

hypoxic


Input: Interestingly, this aberrant splicing of PS2 was also observed in the brains of bipolar disorder and schizophrenia.

bipolar disorder

bipolar disorder


Input: According to the grade of endometrial cancer cell differentiation, H19 showed increased frequency and level of expression in the epithelium from well to moderately and poorly differentiated tissues.

endometrial cancer


Input: MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

MAX

pheochromocytoma

MAX

pheochromocytoma


Input: When we began this study, three genes or loci associated with inherited peripheral neuropathies had already been identified in the European Gypsy population: HMSN-Lom (MIM 601455), HMSN-Russe (MIM 605285) and the congenital cataracts facial dysmorphism neuropathy syndrome (MIM 604168).

MIM

facial dysmorphism


Input: As a result, 99 genes were listed as the differentially expressed genes in major depression, of which several genes such as FGFR1, NCAM1, and CAMK2A were of interest.

major depression

major depression


Input: After serum shock, both types of cells showed clear circadian expressions of Bmal1, Cry1, Cry2, Per1, Per2, Per3 and Rev-erbα mRNA; meanwhile the Clock mRNA show a rhythmic expression in plaque-derived SMCs but not in normal carotid VSMCs.

plaque


Input: This is the first deletion event observed in a GNE allele and expands the molecular pathogenesis of autosomal-recessive h-IBM.

GNE

h-IBM

GNE

h-IBM


Input: Together, our data suggest that Bmi-1 plays an important role in glioma angiogenesis and therefore could represent a potential target for anti-angiogenic therapy against the disease.

glioma

glioma


Input: By analyzing the clinical data of our patients along with those recently described in the literature, we confirm that there is a common, recognizable phenotype associated with MED13L haploinsufficiency, which includes intellectual disability and a distinctive facial appearance.

facial appearance


Input: These results suggest that NT may interact with the mu-opioid receptors at the LC, resulting in the suppression of fentanyl-induced muscular rigidity in the rat.

NT

muscular rigidity

NT

muscular rigidity


Input: Thus, based on its likely involvement as a TSG in neuroblastomas, gliomas, and many common adult tumors, CHD5 may play an important developmental role in many other tissues besides the nervous system and testis.

TSG

nervous system


Input: Variants of the DRD2 gene have also been associated with cocaine, nicotine and opioid dependence, obesity and gambling.

DRD2 gene

gambling


Input: Our purposes were (1) to determine if there is hypoxia-regulated microRNA overexpressed in chondrosarcoma; (2) if that contributes to increased VEGF expression; and (3) can VEGF expression be inhibited with a specific antagomir?

VEGF

hypoxia


Input: A patient whose leukaemic cells carried the rare t (7; 11) (p15; p15) was diagnosed as having acute myelomonocytic leukaemia (AML-M4), and supports the association of this specific translocation with forms of acute myeloid leukaemia showing differentiation.

acute myelomonocytic leukaemia


Input: Alterations in the CaR have been proposed to underlie the increases in Ca2 + set-point seen in primary hyperparathyroidism due to parathyroid adenoma.

primary hyperparathyroidism


Input: In cerebral heterotopia, the NR2A and NR2B downregulation was accompanied by less evident reduction of the SAP97 and PSD-95 proteins of the MAGUK family, thus suggesting that NMDA impairment was associated with altered molecular structure of the postsynaptic membrane.

heterotopia


Input: Mel-18 negatively regulated the HIF-1α expression and its target gene VEGF transcription during both normoxia and hypoxia.

VEGF

hypoxia


Input: BNP levels in patients with unstable angina and myocardial infarction were significantly increased with respect to the group with stable angina (P < 0. 01).

BNP

unstable angina


Input: Because hypoxia is a major stimulus for VEGF production, we examined the effects of LY294002, a selective PI3K inhibitor, on hypoxia-inducible factor (HIF)-1alpha and HIF-2alpha expression and on endogenous VEGF responses to hypoxia.

VEGF

hypoxia


Input: Here, we tested the hypothesis that single nucleotide polymorphisms (SNP) within COMT and BDNF genes are associated with dysphagia in older adults.

COMT

dysphagia


Input: None of the cell lines examined demonstrated chromosomal translocation or rearrangement at the major breakpoint-cluster region (MBR) of the bcl-2 gene using either Southern blot or polymerase chain reaction (PCR) analyses.

bcl-2 gene

chromosomal translocation


Input: Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.

leukocyte adhesion deficiency type III

leukocyte adhesion deficiency type III


Input: Tyrosinase expression was evaluated together with standard cytology and ICC (anti-S100, HMB-45 and Melan-A antibodies) in biological fluid samples collected from 17 melanoma patients according to the site of metastatic involvement or clinical suspicion (eight cerebrospinal fluid (CSF) samples; three pleural effusions; four ascites; one bile sample, one pericardial effusion); 17 samples collected from patients with non-melanoma metastatic cancer were used as controls.

Melan-A

ascites


Input: Together with ILK expression and Akt activation, these molecules could be involved in hippocampal neuroprotection in epilepsy.

ILK

epilepsy

ILK

epilepsy


Input: In this study, serum samples from 164 patients with acute hepatitis of various aetiologies, from 34 asymptomatic hepatitis B virus carriers and from 202 healthy adults were tested for TTV DNA by the semiconserved nested polymerase chain reaction.

TTV

asymptomatic


Input: We carried out an immunohistochemical examination of DNMT1 in both HCC and paired non-neoplastic liver tissues from Chinese subjects.

HCC

non-neoplastic


Input: As the incidence of 13q-, time of development and prognostic impact in MGUS patients is still under debate, we decided to perform serial sequential conventional cytogenetics (CC) and metaphase/interphase fluorescence in situ hybridization (FISH) analyses on bone marrow mononuclear cells obtained from 18 asymptomatic, untreated MGUS patients.

FISH

asymptomatic


Input: The frequency of TT, TC, and CC genotypes of CYP1A1 polymorphism in the controls were 42. 5%, 45. 5%, and 12%, respectively, while those in the infertile men were 38. 7%, 48%, and 13. 3%.

infertile


Input: Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

Leber congenital amaurosis

Leber congenital amaurosis


Input: The homozygous C677T mutation in the MTHFR gene is associated with multiple small-artery occlusions, but not with single small-artery occlusion.

MTHFR gene

artery occlusion


Input: Microarray-based global gene expression analysis was performed on five poorly differentiated HCC cell lines compared with non-neoplastic hepatic controls and a set of three cholangiolar carcinoma (CC) cell lines.

HCC

non-neoplastic


Input: B2M-deficient cases encompassed most of the nodular sclerosis subtype cases and only a minority of mixed cellularity cases, suggesting that B2M deficiency determines the tumor microenvironment and may define a major subset of cHL that has more uniform clinical and morphologic features.

nodular sclerosis


Input: Carriers of BRCA1 mutations showed significantly greater mean frequencies of induced chromosome breaks per cell than did healthy noncarrier relatives (0. 58 versus 0. 39; P & lt; 10 (-4)).

chromosome breaks

chromosome breaks


Input: Taken together, these results suggest that elevated MyD88 may facilitate HCC metastasis by promoting EMT properties and tumor-initiating capabilities via PI3-K/Akt pathway.

metastasis


Input: Identification of gene variants in NOS3, ET-1 and RAS that confer risk and protection against microangiopathy in type 2 diabetic obese subjects.

microangiopathy


Input: Our study shows previously unidentified germline variants in SEMA4A predisposing to FCCTX, which has implications for surveillance strategies of patients and their families.

FCCTX

FCCTX


Input: These up-regulation phenomena were also observed in glioma U251 and U87 cells.

glioma


Input: The genes superoxide dismutase (SOD2) and NAD (P) H: quinone oxidoreductase 1 (NQO1) are involved in inflammation and oxidative stress.

inflammation


Input: Decreased EGFR mutation rate with increased smoking dose was observed, with 48. 0% (82 of 171) in never smokers, 23. 1% (15 of 65) in former smokers, and 11. 4% (10 of 88) in current smokers.

EGFR

smoking


Input: IL1RAP was also overexpressed on HSCs of patients with normal karyotype AML and high-risk myelodysplastic syndrome, suggesting a pervasive role in different disease subtypes.

myelodysplastic syndrome


Input: Taken together, mutations in CTLA4 resulting in CTLA-4 haploinsufficiency or impaired ligand binding result in disrupted T and B cell homeostasis and a complex immune dysregulation syndrome.

CTLA-4 haploinsufficiency

CTLA-4 haploinsufficiency


Input: The authors report a novel GFAP mutation in a patient with juvenile Alexander disease.

GFAP

Alexander disease

GFAP

Alexander disease


Input: Although mutations in HCN4 have been previously linked to bradycardia, our study provides the first evidence to our knowledge that mutations in this ion channel gene also may be associated with structural abnormalities of the myocardium.

abnormalities


Input: We also suggest that models analyzing long-term RCAN1 gene overexpression may help us to understand the molecular mechanisms of neurodegeneration in diseases such as Alzheimer disease, Down syndrome, and possibly others.

RCAN1 gene

neurodegeneration


Input: In this study, we examined changes in matrix metalloproteinase (MMP) inhibitors, such as the tissue inhibitors of metalloproteinase (TIMP)-1, TIMP-2 and RECK, in response to irradiation in Panc-1 pancreatic cancer cells.

RECK

pancreatic cancer


Input: Individuals of the investigated kindreds who were heterozygous for a SLC34A3 mutation frequently showed hypercalciuria, often in association with mild hypophosphatemia and/or elevations in 1, 25-dihydroxyvitamin D levels.

mild


Input: Polymorphisms in genes involved in the oxidative stress response may partially explain the documented heterogeneous associations between traffic-related air pollution (TRAP) exposure and asthma and allergies in children.

TRAP

asthma


Input: Racial differences in the association between body mass index and serum IGF1, IGF2, and IGFBP3.

body mass index


Input: The histology was compatible with alveolar rhabdomyosarcoma, but immunohistochemistry showed that the tumor cells were negative for desmin, alpha-smooth muscle actin and alpha-Sr-1, but were positive for CD56, vimentin and myogenin.

smooth muscle actin

alveolar rhabdomyosarcoma


Input: The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Joubert syndrome

Joubert syndrome


Input: Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

Omenn syndrome

Omenn syndrome


Input: The expression of CCN2, IQSEC, RSPO1, DNAJC15, RIPK2, IL13RA2, IRS1, and IRS2 genes in blood of obese boys with insulin resistance.

insulin resistance


Input: Multiple genes showed significant evidence of differential methylation, several appearing in both ulcerative colitis and Crohn' s disease comparisons including THRAP2, FANCC, GBGT1, DOK2, TNFSF4, TNFSF12, and FUT7.

ulcerative colitis


Input: These tumors displayed similar degrees of extensive necrosis and vascular proliferation, with VEGF expression consistently seen in tumor cells around necrotic areas.

VEGF

necrotic


Input: Cell-cell contact dissociation was analyzed in vitro with biovolume measurements of isolated acini after incubation with purified S100A8/A9 heterodimers, and in vivo as measurement of Evans Blue extravasation after intravenous application of S100A8/A9.

dissociation


Input: AND-34/BCAR3 differs from other NSP homologs in induction of anti-estrogen resistance, cyclin D1 promoter activation and altered breast cancer cell morphology.

cyclin D1

estrogen resistance


Input: Germline mutations in HOXB13 and prostate-cancer risk.

prostate-cancer

prostate-cancer


Input: Myelin-oligodendrocyte-glycoprotein (MOG)-induced experimental autoimmune encephalomyelitis (EAE) induced in DA (RT1 (av1)) rats resembles multiple sclerosis (MS) in many aspects since central nervous system (CNS) pathology shows inflammation, demyelination and axonal loss.

MOG

inflammation


Input: In addition, alpha1 (IV) NC1 inhibited hypoxia-induced expression of hypoxia-inducible factor 1alpha and VEGF in ECs cultured on type IV collagen by inhibiting ERK1/2 and p38 activation.

VEGF

hypoxia


Input: Association study of genetic variants in PLA2G4A, PLCG1, LAT, SYK, and TNFRS11A genes in NSAIDs-induced urticaria and/or angioedema patients.

LAT

angioedema


Input: Frequent promoter hypermethylation of BRCA2, CDH13, MSH6, PAX5, PAX6 and WT1 in ductal carcinoma in situ and invasive breast cancer.

invasive breast cancer


Input: An inhibitor of phosphorylation of Erk-1/2 blocked the increase of VEGF expression and promoter activity induced by serum starvation.

VEGF

starvation


Input: Together, these findings suggest that CFH influences AMD risk by modulating oxidative stress, inflammation, and abnormal angiogenesis.

CFH

inflammation


Input: In this study, aberrant methylation in the SHP1 gene promoter was detected in many B-cell leukemia/lymphoma cell lines as well as in patient specimens, including diffuse large B-cell lymphoma (methylation frequency 93%), MALT lymphoma (82%), mantle cell lymphoma (75%), plasmacytoma (100%) and follicular lymphoma (96%) by methylation-specific PCR, bisulfite sequencing, and restriction enzyme-mediated PCR analyses.

mantle cell lymphoma


Input: Mithramycin, an inhibitor of SP-1, at 1-10 nM inhibited activation of the VEGF gene by bFGF or TNF-alpha but not that by hypoxia.

VEGF

hypoxia


Input: (1) Expressions of TLR4, levels of TNF-& #945; and MMP-9 were increased and the rate was rising from the control group, to SAP group and then to ACS group.

TNF

SAP

TNF

SAP


Input: We hypothesized that leptin deficiency, despite obesity, would inhibit carcinogenesis in leptin-null ob/ob mice and tested this hypothesis in two models: (a) two-stage skin carcinogenesis initiated by 7, 12-dimethylbenz (a) anthracene and promoted by phorbol 12-myristate 13-acetate (PMA) and (b) p53 deficiency.

leptin deficiency


Input: To evaluate the usefulness of LAMP for diagnosing central nervous system infection with herpes simplex virus (HSV), we compared the LAMP method with real-time PCR, using samples that were previously tested by nested PCR.

LAMP

central nervous system infection


Input: Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.

chronic mucocutaneous candidiasis

chronic mucocutaneous candidiasis


Input: Expression of HOXB genes is significantly different in acute myeloid leukemia with a partial tandem duplication of MLL vs. a MLL translocation: a cross-laboratory study.

HOXB

translocation


Input: In 42 healthy Japanese non-smoking men, we investigated the relationship between the MN frequency levels and genetic polymorphisms in three different genes: aldehyde dehydrogenase 2 (ALDH2), X-ray repair cross-complementing group 1 (XRCC1) and excision repair cross-complementing group 2 (ERCC2).

smoking


Input: [Analysis of insertion-deletion polymorphism in serotonin transporter gene in men of different ethnic appurtenance with acute alcoholic psychosis].

serotonin transporter

alcoholic psychosis


Input: The number of observed cases of Pneumocystis carinii pneumonia (PCP), toxoplasmosis, Mycobacterium avium complex (MAC) and cryptosporidiosis reported as a first ADI was substantially fewer in people heterozygous for the CCR5-Delta32 mutation than for those without the mutation, despite similar age, CD4 T-cell count at AIDS diagnosis, year of AIDS diagnosis and receipt of antiretroviral treatment.

MAC

toxoplasmosis


Input: Our results decipher the mechanism through which HIC1 deficiency induce ESCC cells to undergo EMT and promote tumor progression and metastasis through activation of EphA2 signaling pathway.

EMT

tumor progression


Input: However, the function of TR2 in prostate and prostate cancer and the relationship between TR2 and AR in the prostate cancer is unclear.

prostate cancer


Input: In sections of liver infected with hepatitis B virus (HBV) or hepatitis C virus (HCV), the expression of CYP2A6 was markedly increased in hepatocytes immediately adjacent to areas of fibrosis and inflammation.

hepatitis B

hepatitis B


Input: Cells containing IFN-gamma mRNA were detected mainly inside sarcoid granulomas, whereas cells containing IL-2 mRNA were randomly distributed.

IFN

granulomas


Input: The capacity of cyclin D1 to enhance gene amplification may contribute to the process of genomic instability during tumor development.

cyclin D1

genomic instability

cyclin D1

genomic instability


Input: These results indicated that defects of the MTP gene are the proximal cause of ABL.

MTP

ABL

MTP

ABL


Input: To investigate the role of IL-18 in BSA glomerulonephritis, we used IL-18R-deficient C57BL/6 mice.

glomerulonephritis

glomerulonephritis


Input: D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome.

Vohwinkel syndrome

Vohwinkel syndrome


Input: We investigated the effect of K5 combined with the 131I radiation positive feedback effect (Egr1-NIS) for treating malignant U87 glioma cells using a lentiviral vector.

glioma


Input: Cytotoxicity assays showed that the resistance of the osteosarcoma cell lines to etoposide correlated with PXR protein expression levels and activation of P450 3A4 and could be prevented by ketoconazole.

PXR

osteosarcoma

PXR

osteosarcoma


Input: The objective of this study was to describe a multiple endocrine neoplasia type 1 (MEN1) family characterized by primary hyperparathyroidism, in association with acromegaly because of ectopic growth hormone-releasing hormone (GHRH) secretion by a pancreatic neuroendocrine tumor in a young man and with a bronchial carcinoid in his mother.

GHRH

primary hyperparathyroidism


Input: Our results indicate that WISP1 present within the tumor microenvironment stimulates melanoma invasion and metastasis by promoting an EMT-like process.

metastasis

metastasis


Input: Mice with a cardiomyocyte-restricted deletion of signal transducer and activator of transcription-3 (STAT3, CKO) develop PPCM.

signal transducer and activator of transcription-3

PPCM

signal transducer and activator of transcription-3

PPCM


Input: A new experimental concept that encompasses the vasoactive intestinal peptide/pituitary adenylate cyclase activating peptide (PACAP) family of receptors by demonstrating the anti-inflammatory effects of the PACAP receptor 1 (PAC1R) in a murine model of allergic asthma is described.

PACAP

asthma


Input: In all cases where the ABCB4 genotyping confirms the diagnosis of LPAC syndrome in young adults, long-term curative or prophylactic therapy with ursodeoxycholic acid (UDCA) should be initiated early to prevent the occurrence or recurrence of the syndrome and its complications.

LPAC

LPAC


Input: The lack of spontaneous puberty seems related both with gonadotropin deficiency, as suggested by hormonal data and MRI of the pituitary region, and with gonadal dysgenesis, due to the X/autosome translocation, involving the critical region of the X chromosome essential for normal ovarian function.

MRI

translocation


Input: The 39-year-old white male proband, with amaurosis fugax and transient ischemic attacks (TIA), was found to be a compound heterozygote for FVL and PTG mutations.

PTG

transient ischemic attacks


Input: 4-(Methylnitrosamino)-1-(3-pyridyl)-1-butanone induces retinoic acid receptor β hypermethylation through DNA methyltransferase 1 accumulation in esophageal squamous epithelial cells.

DNA methyltransferase 1

esophageal


Input: In particular, a reduction of hypoxia-induced VEGF secretion was observed after 4625 treatment, and the conditioned medium (CM) of bcl-2 overexpressing clones treated with 4625 and exposed to hypoxic conditions resulted in decreased endothelial cell proliferation when compared to CM of untreated control cells.

VEGF

hypoxic


Input: Under hypoxic conditions, cells with decreased Src activity had a < 2-fold increase in VEGF expression, whereas parental cells had a > 50-fold increase.

VEGF

hypoxic


Input: Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.

androgen receptor

androgen insensitivity syndrome

androgen receptor

androgen insensitivity syndrome


Input: A third new translocation was identified in two patients using SKY and G-banding as der (7) t (7; 7) (p15 approximately 22; q22 approximately 32).

SKY

translocation


Input: The tight-skin (TSK/+) mouse, a genetic model of systemic sclerosis (SSc), develops cutaneous fibrosis and defects in pulmonary architecture.

TSK

fibrosis


Input: MS identified four upregulated spots: aspartyl tRNA synthetase glutathione synthetase, interleukin-1 receptor-associated kinase-4 (IRAK4), and breast carcinoma amplified sequence-1 and one downregulated spot: optineurin.

glutathione synthetase

breast carcinoma


Input: Experimental goblet cell hyperplasia caused by ovalbumin sensitization, interleukin 4 (IL4), IL13 and targeted deletion of the gene encoding surfactant protein C (SP-C), was associated with either absent or decreased expression of Foxa2 in airway epithelial cells.

hyperplasia