Input: These results suggest, but do not prove, that PPARGC1 participates in blood pressure control, and sequence substitutions at its gene locus confer an increased risk of hypertension to a substantial proportion of men.

blood pressure


Input: Czech dysplasia is caused by a specific missense mutation (R275C, c. 823C & gt; T) in the triple helical domain of the COL2A1 gene.

Czech dysplasia

Czech dysplasia


Input: The t (8; 21) chromosomal translocation in acute myelogenous leukemia modifies intranuclear targeting of the AML1/CBFalpha2 transcription factor.

chromosomal translocation


Input: Transgenic mice expressing alpha (2A)-adrenoceptors under control of the dopamine beta-hydroxylase (Dbh) promoter were generated and crossed with mice carrying a constitutive deletion in the alpha (2A)-and alpha (2C)-adrenoceptor genes. alpha (2AC)-deficient mice showed increased norepinephrine plasma levels, cardiac hypertrophy, and fibrosis at baseline.

alpha (2C)-adrenoceptor

cardiac hypertrophy

alpha (2C)-adrenoceptor

cardiac hypertrophy


Input: We have taken advantage of the hamster strain CHF147 that displays progressive cardiomyopathy leading to heart failure to test whether stimulation of a hypertrophic pathway could delay the process of dilatation. Six month old CHF147 hamsters were treated with IGF-1 so that we could compare the efficacy of systemic administration of human recombinant IGF-1 protein (rh IGF-1) at low dose to that of direct myocardial injections of a plasmid DNA containing IGF-1 cDNA (pCMV-IGF1). IGF-1 treatment did not induce a significant variation of ventricle mass, but preserved left ventricular (LV) wall thickness and delayed dilatation of cardiac cavities when compared to non-treated hamsters.

cavities


Input: Herein, we investigate the role in vivo of TNF-alpha signalling through c-Jun N-terminal kinase (JNK) 1 in destructive arthritis.

JNK

destructive arthritis


Input: A multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) assay for both major forms of BCR-ABL was compared with fluorescence in situ hybridization (FISH), karyotyping, and Southern blotting for disease monitoring in 37 follow-up bone marrow samples from 32 patients with Ph1-positive leukemia.

FISH

leukemia


Input: Peripheral expression of ApoE mRNA was lower in the PSD group than the control stroke group (p < 0. 701) while serum ApoE was higher than in the control stroke group (p < 0. 05), possibly reflecting a feedback reduction in expression.

PSD

stroke


Input: To address this question, we conducted a study to examine effects of FTO tag SNPs on censored age of overweight in the longitudinal Bogalusa Heart Study (BHS) cohort, which began in 1973-1974.

FTO

overweight


Input: We have analysed the p53 status in non-progressive and progressive chronic B-cell leukemia (B-CLL) by ELISA, immunoprecipitation, FACS and cDNA sequencing in relation to in vitro proliferation in response to Staphylococcus aureus strain Cowan I (SAC) and IL-2.

non-progressive


Input: We conclude that MUTYH suppresses spontaneous tumorigenesis in mammals, thus providing experimental evidence for the association between biallelic germ-line MUTYH mutations and a recessive form of human hereditary colorectal adenoma and carcinoma.

MUTYH

tumorigenesis


Input: Anemia, however, did not appear to influence EPOR expression on leukemic cells, although children with ETV6/RUNX1-positive leukemias had a lower median hemoglobin than controls.

hemoglobin


Input: Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons.

translocation


Input: However, mutation screening by dHPLC and Southern blot analysis of another sporadic case with MMEP failed to detect any point mutations or deletions in the SNX3 coding sequence.

MMEP

MMEP


Input: In this randomised, double-blind, placebo-controlled, phase 3 trial, we recruited women with HER2-positive, trastuzumab-resistant, advanced breast carcinoma who had previously received taxane therapy.

blind


Input: These data raise the possibility that integrin-mediated adhesion to interstitial matrix proteins during metastasis differentially regulates the nuclear/cytoplasmic translocation and DNA binding of Twist1, activating N-cadherin transcription.

translocation


Input: METHODS: Using Fra-1-overexpressing MCF7 [weakly invasive, estrogen receptor (ER)-positive] and MDA MB231 (strongly invasive, ER-negative) cells, we performed dynamic cell flow adhesion assays on surfaces coated with E-selectin or with human pulmonary microvascular endothelial cells.

estrogen receptor

adhesion


Input: In addition, intraventricular administration of TRH, LHRH or LH caused tachycardia, hypertension and a reduction in the epinephrine-induced reflex bradycardia.

LHRH

tachycardia

LHRH

tachycardia


Input: Of the HLA-TNF haplotypes analysed, the infrequent allele (A) of TNFalpha238 was in strong linkage disequilibrium with HLA-A1 (P corrected: Pc = 0. 001), B17 (Pc < 0. 0001) and DR7 (Pc = 0. 01) in control subjects and with B17 (Pc < 0. 0001) in pulmonary tuberculosis.

pulmonary tuberculosis


Input: To identify the role of apoptosis in brain tumor cell death, we investigated macromolecular (RNA and protein) synthesis and activity in the central to peripheral region of benign [desmoplastic infantile ganglioglioma (DIG) and transitional meningioma (TMG)] and malignant [ependymoma (END), anaplastic astrocytoma (APA), and glioblastoma multiforme (GBM)] brain tumors derived from five patients who had not received previously radiotherapy or chemotherapy.

END

anaplastic astrocytoma


Input: Since the mutation produces a change in the predicted flexibility of the AGA polypeptide chain and removes an intramolecular S-S bridge, it most probably explains the deficient enzyme activity found in cells and tissues of AGU patients.

AGA

AGU

AGA

AGU


Input: Nevertheless, the cytogenetic and FISH findings indicate that CD79a, despite its specificity for B-cell differentiation, represented the aberrant presence of a B-cell antigen in leukemias of distinct myeloid linage.

FISH

leukemias


Input: In addition, homozygous missense mutations in carbonic anhydrase-related protein VIII (CARP), which suppresses the ability of IP3 to bind to IP3R1, cause a recessively inherited ataxia with mild cognitive impairment with/without quadrupedal gait.

CARP

mild cognitive impairment


Input: We assessed whether the risk alleles in TCF7L2, CDKAL1, HHEX, SLC30A8, IGF2BP2, CDKN2A/2B, JAZF1, and WFS1 reduce insulin secretion in an additive manner and whether their impact is influenced by insulin sensitivity.

insulin sensitivity


Input: Target genes of miR-122, including cyclin G1, a disintegrin and metalloprotease (ADAM) 10, serum response factor, insulin-like growth factor-1 receptor, ADAM17, transcription factor CUTL1, the embryonic isoform of pyruvate kinase (Pkm2), Wnt1, pituitary tumor-transforming gene 1 binding factor, Cut-like homeobox 1, and c-myc, are involved in hepatocarcinogenesis, epithelial mesenchymal transition, and angiogenesis.

hepatocarcinogenesis


Input: Of 93 patients with primary aldosteronism seen during a 20 year period, 52 had an aldosterone-producing adenoma (APA) removed (five more await surgery), 14 had bilateral adrenal hyperplasia (BAH), three had glucocorticoid-suppressible hyperaldosteronism (GSH), one had adrenal carcinoma and 18 are yet to be categorized.

BAH

primary aldosteronism


Input: IL-9 and IL-9 receptor expression in airway epithelial cells and bronchoalveolar lavage cells obtained at bronchoscopy of healthy (n = 9) and mild intermittent asthmatic individuals (n = 7) were studied by Northern analyses and reverse-transcription polymerase chain reaction technique.

mild


Input: It is suggested that the whole-cell pertussis present in DTP vaccine, acting as an excessive stimulus in these patients, produced symptoms reminiscent of biologic responses to circulating proinflammatory monokines such as IL-1beta, TNF-alpha, and IL-6 because earlier it was reported that in vitro the whole-cell vaccine induced significantly more such cytokine production than did the acellular pertussis or diphtheria-tetanus-only vaccine.

tetanus


Input: BRCA1 mutations cause homologous recombination (HR)-mediated DNA repair deficiency, genomic instability, and DNA-damaging agent hypersensitivity.

genomic instability


Input: We previously reported that a T-786--> C polymorphism in the 5'-flanking region of the endothelial nitric oxide synthase gene and smoking were independently associated with coronary spasm; however, the interaction between this polymorphism and smoking remains to be elucidated.

endothelial nitric oxide synthase

smoking


Input: Here we analyze hypoxic signaling through MAPK kinases to AP-1/c-Jun in the HT29 colon adenocarcinoma cell line, and observe activation of stress-activated pathways mediated predominantly by SEK1 and MKK7.

hypoxic


Input: Carotid atherosclerosis (CA) is one of the most common causes of stroke, and recent studies suggest that pathways initiated by the interaction of the plasma vitamin K-dependent protein GAS6 with the tyrosine kinase receptors TYRO3, AXL and MERTK (TAM) may have a relevant role in atherogenesis.

MERTK

atherogenesis


Input: Even in the rabbit ischemia model, cotransfection of HGF plasmid with the prostacyclin synthase gene demonstrated a further increase in angiogenic activity compared with HGF alone.

HGF

ischemia


Input: The magnitude of BK-induced hypotension was significantly attenuated in all rats treated with Hoe 140. 4.

BK

hypotension

BK

hypotension


Input: The translocation partner of all BCL2 rearrangements was IGH, with IGH-BCL2 fusion in 63% of LG tumours and 18% of HG tumours.

translocation


Input: No additional mutations in CNGA2 were identified in a cohort of 31 non-related ICA individuals.

ICA

ICA


Input: Also, a significantly larger proportion of subjects in the schizophrenia group had elevated FAS receptor expression in the DLPFC relative to unaffected controls.

FAS

schizophrenia

FAS

schizophrenia


Input: This mutation prevents hepatitis B e antigen production by introducing a TAG stop codon and has been associated with severe chronic and fulminant hepatitis.

TAG

fulminant hepatitis


Input: Increased expression of endothelial nitric oxide synthase and caveolin-1 in the aorta of rats with isoproterenol-induced cardiac hypertrophy.

cardiac hypertrophy

cardiac hypertrophy


Input: Moreover, the correlation between TS, DPD and TP expression and cytotoxicity of 5-fluorouracil was evaluated in Colo 320, HT-29, CaCo-2 and SW620 human CRC cell lines.

TP

CRC

TP

CRC


Input: Accumulation of CD4 + lymphocytes in leptomeninges and perivascular spaces was a prominent feature in RE specimens resected within a year of seizure onset.

seizure


Input: We propose that ARB is the null phenotype of bestrophin-1 in humans.

ARB

ARB


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

microsatellite instability


Input: The homozygous variants of hOGG1 G2657A, APEX1 D148E and XRCC1 R194W polymorphisms all showed a weak but significant effect on overall survival as demonstrated by either log rank test or multivariate COX regression after adjusting for other potential confounders.

regression


Input: Mutations leading to hemophilia A by substitution of amino acids in coagulation factor VIII may provide important clues to the structure and function of this large and enigmatic protein.

coagulation factor VIII

hemophilia A

coagulation factor VIII

hemophilia A


Input: METHODS AND RESULTS: By whole-exome sequencing, we identified a homozygous WWOX nonsense mutation, p. Arg54 *, in a girl from a consanguineous family with a severe syndrome of growth retardation, microcephaly, epileptic seizures, retinopathy and early death, a phenotype highly similar to the abormalities reported in lde/lde rats with a spontaneous functional null mutation of Wwox.

Wwox

growth retardation


Input: These data suggest that impaired hyperemia by SP during acid challenge of the gastric mucosa may be mediated by a mast cell-dependent mechanism involving the release of proteases from mast cells.

SP

hyperemia

SP

hyperemia


Input: The overexpression of miR-126 in CD4 + T cells from healthy donors caused the demethylation and up-regulation of genes encoding CD11a and CD70, thereby causing T cell and B cell hyperactivity.

hyperactivity


Input: Association of endothelial nitric oxide synthase polymorphism G894T with functional outcome in acute stroke patients.

endothelial nitric oxide synthase

acute stroke


Input: Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.

pituitary hormone deficiency

pituitary hormone deficiency


Input: Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene.

prion protein

CJD

prion protein

CJD


Input: Denaturing high-performance liquid chromatography and direct sequencing of polymerase-chain-reaction products amplified from 10 genetically independent patients with USH2C and 156 other patients with USH2 identified four isoform-specific VLGR1 mutations (Q2301X, I2906FS, M2931FS, and T6244X) from three families with USH2C, as well as two sporadic cases.

sporadic


Input: Sequence analysis of germ-line DNA from MEN 2B patients revealed the existence of the same point mutation in the RET protooncogene in 34 unrelated individuals.

RET

MEN 2B

RET

MEN 2B


Input: NR0B1 is required for the oncogenic phenotype mediated by EWS/FLI in Ewing' s sarcoma.

sarcoma


Input: Mutations of the exon 19 of EGFR gene were higher in female, non-smoking and adenocarcinoma patients.

EGFR gene

smoking


Input: We investigated the genetic polymorphisms of CYP1A1, CYP2E1 and GSTM1 in Japanese esophageal cancer patients (n = 53) with a histological diagnosis of squamous-cell carcinoma, to determine whether susceptibility to esophageal cancer is associated with these polymorphisms.

carcinoma


Input: A total of 180 CF' s patients were included in this study, which investigated polymorphisms in GCLC and GST genes (GCLC-129C > T and-3506A > G; GSTM1 and GSTT1 genes deletion, and GSTP1 * + 313A > G) by PCR and PCR-RFLP associating to clinical variables of CF severity, including variables of sex, clinical scores [Shwachman-Kulczycki, Kanga e Bhalla (BS)], body mass index, patient age, age for diagnosis, first clinical symptoms, first colonization by Pseudomonas aeruginosa, sputum' s microorganisms, hemoglobin oxygen saturation in the blood, spirometry and comorbidities.

body mass index


Input: We sequenced all of the 15 exons of FUS in 10 familial ALS pedigrees, exons 5, 6, 14, and 15 in 210 patients with sporadic ALS and 151 healthy controls.

FUS

sporadic


Input: Our results support the hypothesis that CYP1A1 protects against hyperoxic lung injury by decreasing oxidative stress.

lung injury

lung injury


Input: These results suggest that LRRK2 and tau do not interact to exacerbate behavioral, biochemical or pathological abnormalities in neurodegeneration and that LRRK2 and tau exert their pathogenic effects through independent mechanisms.

abnormalities


Input: With STP, GTCS were reduced more than 50% in 14 of 23 patients (61%), including 2 who became seizure-free, in the early period.

STP

seizure


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

acute leukemia


Input: Forced activation of Nrf2 by adenoviral over-expression of Nrf2 inhibited the increased ERK activity and recovered the blunted insulin sensitivity on glucose uptake in cardiomyocytes that were chronically treated with H (2) O (2).

ERK

insulin sensitivity


Input: Mcl-1 down-regulation potentiates ABT-737 lethality by cooperatively inducing Bak activation and Bax translocation.

translocation


Input: Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

HSAS

MASA syndrome

HSAS

MASA syndrome


Input: Immunohistochemical analysis for CD31, SDF-1, and CXCR4 was performed on mouse eyes 2 weeks after the initiation of laser rupture of Bruch' s membrane, a choroidal neovascularization (CNV) model.

choroidal neovascularization


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

IKBKAP

hyperlipidemia


Input: ERLIN2 is preferably expressed in human breast cancer cells or hepatoma cells and is inducible by insulin signalling or when cells are cultured in lipoprotein-deficient medium.

hepatoma


Input: As increased mRNA expression of LI-cadherin was associated with distant metastasis and lymphatic invasion especially in the biopsy specimen of advanced gastric cancer before surgery, it may provide useful preoperative information on tumor aggressiveness.

LI-cadherin

aggressiveness


Input: The results for NTRK3 as well as the authors' previous finding for association to brain-derived neurotrophic factor in this sample support synaptic plasticity as a mechanism contributing to mood disorders that begin during childhood and adolescence and specifically implicate the NTRK3 gene as a contributing factor in the 15q-linked region.

mood disorders

mood disorders


Input: Rapid detection of 17p11. 2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies.

FISH

peripheral neuropathies


Input: The GDF-5 gene is one of the few growth factor genes that have been found to be associated with IDD thus far; moreover, the GDF-5 gene defects lead to collagen and proteoglycan abnormalities in discs in mice, suggesting that GDF-5 contributes to the structural and functional maintenance of the IVD.

IVD

abnormalities


Input: In mice, it induces serum amyloid A, potentiates the induction by IL-1 of corticosterone and IL-6, and causes body weight loss and B cell hyperplasia with serum IgG and IgM increase.

hyperplasia


Input: These findings provide further evidence that mutation of HRPT2 is associated with the formation of parathyroid tumors in HPT-JT syndrome.

HPT-JT

HPT-JT


Input: Furthermore, oxidative stress induces nucleocytoplasmic translocation of PDX-1 through activation of the c-Jun N-terminal kinase (JNK) pathway, which leads to suppression of insulin gene expression.

translocation


Input: We initially examined Endoglin and Hydroxy-nonenal-(HNE)-modified proteins in the placentas and amnion obtained from women with pre-eclampsia (n = 8), and healthy controls (n = 8) by immunohistochemistry.

HNE

pre-eclampsia


Input: However, BIM deletion polymorphism, line of treatment, EGFR genotype, and smoking were not predictive of PFS for EGFR TKIs.

BIM

smoking


Input: We show that xerosis and hyperkeratosis on the dorsal aspects of the hands and fingers, as well as palmar hyperlinearity, should alert the clinician about a possible inherited barrier abnormality of the skin resulting from FLG mutations.

FLG

xerosis


Input: Herein, the levels of five serum miRNAs, namely, miR-182, miR-331-3p, miR-197, miR-492, and miR-581, were detected in 103 HCC patients, 95 benign liver diseases, and 40 healthy controls using real-time PCR technique.

HCC

liver diseases


Input: Cardiac-specific ablation of ARNT leads to lipotoxicity and cardiomyopathy.

ARNT

cardiomyopathy


Input: Recent genome-wide association study also demonstrated that CDH7 was significant associated with bipolar disorder.

bipolar disorder

bipolar disorder


Input: These results suggest the possible contribution of DSCAM gene in bipolar disorder, and warrant further investigations.

DSCAM

bipolar disorder

DSCAM

bipolar disorder


Input: MTS is related to hereditary non-polyposis colorectal cancer (HNPCC), a syndrome with germline mutations in the mismatch repair (MMR) gene (s), leading to microsatellite instability (MSI).

MMR

microsatellite instability


Input: Among 20 colon cancer cell lines, hypermethylation was subsequently identified for three of four analyzed genes, ADAMTS1 (85%), CRABP1 (90%), and NR3C1 (35%).

colon cancer


Input: Each novel missense mutation occurred at a highly conserved residue, no other candidate mutation was detected on screening the entire coding region of the FVIII gene and they were not detected in a screen of individuals without haemophilia A.

FVIII

haemophilia A

FVIII

haemophilia A


Input: We evaluated the performance of a multiprobe FISH (fluorescence in situ hybridization) assay for noninvasive detection of upper urinary tract transitional cell carcinoma (UUT-TCC) in patients with asymptomatic hematuria and negative urine cytology.

FISH

asymptomatic


Input: All dual-translocation FLs were CD10 +/BCL6 +/BCL2 +/MUM1-, and the DLBCLs demonstrated " activated " germinal center (CD10 +/BCL6 +/MUM1 +) and non-germinal center (CD10-/BCL6 +/MUM1 +) phenotypes.

translocation


Input: Hepatic steady-state NTCP mRNA levels in a group of 23 pre-and postportoenterostomy biliary atresia patients were inversely related to total bilirubin, indicating that extrahepatic bile duct obstruction leads to down-regulation of NTCP mRNA levels, similar to that observed in rat common bile duct ligation.

NTCP

biliary atresia


Input: Thus, we sought to determine the effects of polymorphisms in COMT and functionally related pain genes in the COMT pathway (estrogen receptor 1 [ESR1], guanosine-5-triphosphate cyclohydrolase 1 [GCH1], methylenetetrahydrofolate reductase [MTHFR]) on COMT enzymatic activity, musculoskeletal pain, and pain-related intermediate phenotypes among TMD cases and healthy control subjects.

musculoskeletal pain

musculoskeletal pain


Input: Literature search was conducted on PubMed using combinations of the following terms: ABC transporters, ATP binding cassette transporter proteins, inflammatory bowel disease, ulcerative, colitis, Crohn' s disease, colorectal cancer, colitis, intestinal inflammation, intestinal carcinogenesis, ABCB1/P-glycoprotein (P-gp/CD243/MDR1), ABCC2/multidrug resistance protein 2 (MRP2) and ABCG2/breast cancer resistance protein (BCRP), Abcb1/Mdr1a, abcc2/Mrp2, abcg2/Bcrp, knock-out mice, tight junction, membrane lipid function.

inflammatory bowel disease


Input: Importantly, inhibition of JNK2 led to a decrease of Notch-2 expression and suppressed the CD133 (+)/Nestin (+) cell population in patient-derived primary glioma cells.

glioma


Input: To investigate the role of LIF in cholangiocarcinoma, we evaluated the expression of LIF and its receptor (LIFR) in human samples.

LIFR

cholangiocarcinoma


Input: These results suggest that Tax1 and Tax2 could promote innate immunity in the extracellular environment during HTLV-1 and HTLV-2 infections via CC-chemokine ligands and receptors.

infections


Input: We sequenced SEPN1 in five unrelated CFTD patients with scoliosis and respiratory muscle weakness and screened an additional 22 CFTD patients for abnormalities in SEPN1 by Western blotting and restriction digest for the 943G--> A mutation.

abnormalities


Input: A mutation in the 5' untranslated region (UTR) of CDKN2A generates a novel upstream initiation codon that abrogates expression of p16, and a common polymorphism in the 3' UTR is associated with increasing familial risk of melanoma.

UTR

melanoma


Input: It is reported that PAR-2 expression is significantly increased in human renal cell carcinoma (RCC) tissue compared with the adjacent non-neoplastic kidney tissue.

PAR

non-neoplastic


Input: We searched for mutations in the ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in 65 myelodysplastic syndromes (MDSs) and 64 acute myeloid leukemias (AMLs) without balanced translocation or complex karyotype.

translocation


Input: To our knowledge, the present study is the first to demonstrate that impaired peripheral nerve IR signaling, as indicated by decreased phosphorylated: total IR protein ratio, coincides with early mechanical hyperalgesia and thermal hypoalgesia in STZ-diabetic rats.

IR

mechanical hyperalgesia

IR

mechanical hyperalgesia


Input: Gain-and loss-of-function studies in A431 SCC cells demonstrate T-cad-controlled responsiveness to EGF with respect to pharmacological inhibition of EGFR and to diverse signaling and functional events of the EGFR activation cascade (EGFR phosphorylation, internalization, nuclear translocation, cell retraction/de-adhesion, motility, invasion, integrin β1, and Rho small GTPases such as RhoA, Rac1, and Cdc42 activation).

EGFR

adhesion


Input: The 8; 21 chromosomal translocation involves the AML1 gene on chromosome 21 and the ETO gene on chromosome 8 and results in the transcription of a chimeric message.

chromosomal translocation


Input: Mutations in BRAF and KRAS differentially distinguish serrated versus non-serrated hyperplastic aberrant crypt foci in humans.

BRAF

aberrant crypt foci


Input: There was a trend toward a stronger protective effect of SNPs at the PARK16 locus in sporadic PD compared to familial cases and in older compared to younger subjects.

sporadic


Input: Our results support functional interactions between cisplatin and ATP7B but argue against the active transport through the copper translocation pathway as a mechanism of drug resistance.

translocation


Input: RNAi significantly suppresses expression of VEGF induced by hypoxia in human corneal epithelial cells in vitro.

VEGF

hypoxia


Input: Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.

myomaker

Carey-Fineman-Ziter syndrome

myomaker

Carey-Fineman-Ziter syndrome


Input: Our observations expand the range of OCRL1 mutations that cause Lowe syndrome, and will be useful for genetic counseling in these two families.

Lowe syndrome

Lowe syndrome


Input: Preferential inactivation of the X chromosome with the mutated MECP2 gene is found in mildly symptomatic or asymptomatic carrier females.

MECP2 gene

asymptomatic


Input: The highest risk of thrombosis was carried by the simultaneous presence of lupus anticoagulant (LA) and anti-cardiolipin (aCL) [relative risk (RR) = 4. 03, 95% confidence interval (CI) 2. 06-7. 86] or anti-beta2-glycoprotein I antibodies (abeta2-GPI) (RR = 5. 10, 95% CI 2. 58-10. 1).

GPI

lupus anticoagulant


Input: Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

Diamond-Blackfan anemia

Diamond-Blackfan anemia


Input: Two mesothelioma (M14K, M38K) and one non-neoplastic mesothelial cell line (MET-5A) were studied for eNOS mRNA expression by reverse transcriptase-polymerase chain reaction (RT-PCR).

MET

non-neoplastic


Input: Of the up-regulated genes, 40% were implicated in cell cycle regulation and apoptosis and included cyclin G1 and cyclin I, p21-activated kinase-1 (PAK-1), p53, retinoblastoma like-2 [Rb2 (p130)], insulin-like growth factor binding protein-5 (IGFBP5) and caspases.

cyclin I

retinoblastoma


Input: Factor V Leiden presents not a major role as risk factor for arterial thrombosis, while it is present in 18% of Caucasian patients with venous thrombosis.

Factor V Leiden

arterial thrombosis


Input: Hepatocyte IKKbeta/NF-kappaB inhibits tumor promotion and progression by preventing oxidative stress-driven STAT3 activation.

NF-kappaB

tumor promotion


Input: The t (12; 21) (p13; q22) ETV6-RUNX1 gene fusion is one of the most common chromosomal translocation in childhood acute lymphoblastic leukemia (ALL).

RUNX1 gene

chromosomal translocation


Input: Fluorescence in situ hybridisation (FISH) was used to study 60 cases with leukaemic presentation of MCL, to determine the frequency, clinical correlations and prognostic impact of a panel of molecular cytogenetic abnormalities: 17p13 (TP53 locus), 13q14, 12 p11. 1-q11 (centromere), 6q21 and 11q23.

cytogenetic abnormalities


Input: Expression of proapoptotic Bax, antiapoptotic Bcl-2 and Bcl-xL, nuclear proliferation protein MiB-1, and hypoxia-inducible factor 1alpha (Hif-1alpha) in peri-ischemic areas of the embolized angiofibromas was also assessed.

angiofibromas


Input: After adjusting for age, sex, stage, pack-years of smoking, and histologic subtype, the MMP-12 1082A/G polymorphism remained significantly associated with survival outcomes [adjusted HR (AHR) for OS, 1. 94; 95% CI, 1. 28-2. 97, P = 0. 002; AHR for RFS, 1. 61; 95% CI, 1. 07-2. 41, P = 0. 02].

AHR

smoking


Input: Conditioned medium from the intermittent hypoxia-exposed neuroblastoma cells was found to enhance osteoclastogenesis, up-regulate the mRNAs of osteoclast marker genes including TRAP, CaSR and cathepsin K and induce the activation of ERK, JNK, and p38 in RAW 264. 7 cells.

cathepsin K

hypoxia


Input: Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.

VHL

VHL

VHL

VHL


Input: Prodynorphin, the precursor of the dynorphin opioid peptides, has been shown to play an important role in several aspects of human diseases and complex traits, e. g., drug abuse, epilepsy, and mood disorders.

Prodynorphin

mood disorders

Prodynorphin

mood disorders


Input: Since this discrepancy may be due to the removal of calcium during purification, we have expressed wild-type COMP and the most common mutant form found in pseudoachondroplasia, MUT3, using a mammalian expression system and have purified both proteins in the presence of calcium.

COMP

pseudoachondroplasia

COMP

pseudoachondroplasia


Input: In conclusion, DRD3 gene polymorphism is unlikely to play a substantial role in conferring susceptibility to DAT, but it may be involved in the development of paranoid and delusional ideation during the course of mild DAT.

DRD3 gene

mild


Input: We demonstrate the clinical usefulness of a panel of beta2 integrins (CD11a, CD11b and CD11c) in accurate prediction of AML-M3, and recommend inclusion of this immunophenotypic analysis to identify patients who require ATRA therapy.


Input: Functional studies of ECCL fibroblast cell lines show increased levels of phosphorylated FGFRs and phosphorylated FRS2, a direct substrate of FGFR1, as well as constitutive activation of RAS-MAPK signaling.

ECCL

ECCL


Input: A total of four single nucleotide polymorphisms (SNPs) in the genes UCP1, UCP2, UCP3, and ADRB1 were examined for association with obesity and insulin sensitivity (HOMA (IR)) in obese (n = 292) and healthy non-obese (n = 481) females.

insulin sensitivity


Input: Antenatal dexamethasone suppresses tumor necrosis factor-alpha expression in hypoplastic lung in nitrofen-induced diaphragmatic hernia in rats.

tumor necrosis factor-alpha

diaphragmatic hernia

tumor necrosis factor-alpha

diaphragmatic hernia


Input: CD4 + T cells of either Th1 or Th2 type also have regulatory functions in human P. falciparum malaria.

falciparum malaria


Input: A chromosomal translocation t (14; 18) was demonstrated by comigration of rearranged bcl-2 and JH sequences in one of these two cases.

chromosomal translocation


Input: We have found that the probability of the privileged conformations of hPPO can be correlated very well with the k (cat)/K (m) of PPO (correlation coefficient, R (2) & gt; 0. 9), and the catalytic activity of 44 clinically reported VP-causing mutants can be accurately predicted.

PPO

VP

PPO

VP


Input: In this study, we characterized the high-risk neuroblastoma association at the BRCA1-related locus, BARD1, showing that disease-associated variations correlate with increased expression of the oncogenically activated isoform, BARD1β.

high-risk neuroblastoma


Input: IGF-1 and the chemical hypoxia agent, cobalt chloride, each stimulated VEGF secretion and VEGF promoter activation.

VEGF

hypoxia


Input: Kynurenine Signaling Increases DNA Polymerase Kappa Expression and Promotes Genomic Instability in Glioblastoma Cells.

DNA Polymerase Kappa

Glioblastoma

DNA Polymerase Kappa

Glioblastoma


Input: While we do not find a relationship with CAG and GGN repeats haplotypes and male infertility, we report for the first time a unique and wider distribution of the GGN allele in the Nigerian population which is significantly different from the Caucasian population.

GGN

male infertility


Input: It has been described that in contrast to p53, p63 seems not to be associated with tumor predisposition, as neither p63 knockout mouse models nor germline p63 mutations are related to an increased risk of tumorigenesis.

tumorigenesis


Input: To ascertain the molecular background of combined pituitary hormone deficiency, screening for mutations in the pituitary-specific transcription factor (Pit-1/GHF-1) gene (PIT1) was performed on a cohort of 15 children from Russia with combined growth hormone (GH)/prolactin (Prl)/thyroid-stimulating hormone (TSH) deficiency.

pituitary hormone deficiency


Input: Biallelic loss-of-function mutations in WNT1 result in a recessive clinical picture that includes bone fragility with a moderately severe and progressive presentation that is not easily distinguished from dominant OI type III.

OI type III

OI type III


Input: To determine whether polymorphisms in the FOXP3 gene are associated with preeclampsia.

FOXP3 gene

preeclampsia


Input: Their features are compared with those of previously reported patients with KBG syndrome aiding in the delineation of neurocognitive phenotype associated to ANKRD11 mutations.

KBG syndrome

KBG syndrome


Input: Furthermore, in HSV infection, the production of inflammatory cytokines is closely correlated with the pathogenesis of herpetic keratitis, and IFN-gamma plays an important role in enhancing viral clearance from the cornea and trigeminal ganglions.

IFN

herpetic keratitis


Input: In this study, we tested whether the status of PTEN determined fate of the cell by examining PTEN-deficient U87, U251, and U373, and PTEN-proficient LN18 and LN428 glioma cells after exposure to IR.

glioma


Input: We have recently described two kindreds presenting thoracic aortic aneurysm and/or aortic dissection (TAAD) and patent ductus arteriosus (PDA) and mapped the disease locus to 16p12. 2-p13. 13 (ref.

patent ductus arteriosus


Input: The objective of this study is to perform the molecular analysis of HESX1, PROP1, POU1F1, and CTNNB1 genes and evaluate a panel of miRNA expression in craniopharyngioma.

craniopharyngioma


Input: The major goal of the present study was to determine whether endogenous HRG causes autocrine/paracrine activation of ErbB-2/ErbB-3 and contributes to the proliferation of mammary epithelial tumor cells.

HRG

epithelial tumor


Input: Megakaryocyte analysis of a follow-up of eight individual cases with sequential biopsies, however, showed that progression to homozygosity of V617F mutated JAK2 and onset of manifest fibrosis appeared to be independent events.

fibrosis


Input: We report the first point mutation in desmin cosegregating with an autosomal dominant form of desmin-related myopathy.

desmin

desmin-related myopathy

desmin

desmin-related myopathy


Input: Recurrent VTE was not increased in the presence of factor V Leiden (hazard ratio [HR], 0. 7; 95% CI, 0. 2-2. 6); the 20210G > A prothrombin gene mutation (HR, 0); antithrombin deficiency (HR, 0); elevated factor VIII (HR, 0. 7; 95% CI, 0. 1-5. 4); elevated factor XI (HR, 0. 7; 95% CI, 0. 1-5. 0), or elevated homocysteine (HR, 0. 7; 95% CI, 0. 1-5. 3), but showed a trend to an increase with an antiphospholipid antibody (HR, 2. 9; 95% CI, 0. 8-10. 5).

factor VIII

prothrombin gene mutation


Input: The aim of this study was to evaluate the transmission incidence of systemic TTR amyloidosis after DLT with a complete clinical, neurological, and pathological assessment.

DLT

amyloidosis


Input: Under hypoxia, dexamethasone treatment inhibited HIF-1α protein level and its downstream gene, VEGF mRNA level in the colon cancer cell lines, HCT116 and HT29.

VEGF

hypoxia


Input: Our data suggest that UNC5D forms a positive feedback loop with p53 and E2F1 to promote NGF dependence-mediated PCD during NB regression.

regression


Input: We used whole-exome sequencing of a parent-offspring trio to identify the cause of early infantile epileptic encephalopathy in a boy with neonatal seizures, movement disorders, and multiple congenital anomalies who died at the age of 17 months because of respiratory illness and identified a de novo heterozygous missense mutation (c. 3979A > G; p. Ile1327Val) in SCN8A (voltage-gated sodium-channel type VIII alpha subunit) gene.

VIII

neonatal seizures


Input: Reporter and chromatin immunoprecipitation assays identified a previously unrecognized nuclear factor-κB (NF-κB) response element in the TERT promoter, to which NF-κB is recruited during inflammation.

TERT

inflammation


Input: SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria.

corneal endothelial dystrophy

corneal endothelial dystrophy


Input: The non-steroidal anti-inflammatory drugs (NSAIDs) interfere with hypoxia-induced HIF-1α accumulation, VEGF gene activation and angiogenesis through upregulation of von Hippel-Lindau (VHL) tumor suppressor, which activates degradation of HIF-1α protein.

VEGF

hypoxia


Input: Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood.

herpes simplex encephalitis

herpes simplex encephalitis


Input: Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.

Congenital hereditary lymphedema

Congenital hereditary lymphedema


Input: Serum total ADP (T-ADP) levels and its oligomers were measured in EMs during headache-free periods and CDH sufferers at baseline level of pain, as compared with healthy control subjects using ELISA.

ADP

headache


Input: At the northern blot mRNA level, 8/15 (53%) megakaryocytic and 3/11 (27%) erythroid leukemia cell lines expressed MPL mRNA; except for one positive monocytic cell line, the remaining 78 pre B-cell, B-cell, plasma cell, T-cell, NK cell, myeloid, monocytic and Hodgkin/anaplastic large cell lymphoma (ALCL)-derived cell lines were negative.

MPL

anaplastic large cell lymphoma


Input: In a meta-analysis adjusted for age, sex, smoking, and eigenvectors of population variation, two loci achieved genome-wide significance: 7p21 (P = 2. 4 × 10 (-19)), near AHR, and 15q24 (P = 5. 2 × 10 (-14)), between CYP1A1 and CYP1A2.

AHR

smoking


Input: FLNA mutations were found in 100% of familial cases with X-linked PNH (10 families: 8 with classical bilateral PNH, 1 with EDS and 1 with unilateral PH) and in 26% of sporadic patients with classical bilateral PNH.

FLNA

sporadic


Input: NPL regression interaction and ordered subset analysis (OSA) suggested that the evidence for linkage to ESRD significantly increased with higher body mass index (BMI) at 13q33. 3 (LOD = 4. 94 in 61% of families with the highest BMI).

NPL

regression


Input: In order to gain insight into the etiology of the observed dramatic increase in Mfs following antineoplastic therapy, we investigated the prevalence of microsatellite instability (MSI), reflective of a defect in DNA mismatch repair (MMR), in children with ALL at diagnosis, during and after chemotherapy and compared them with healthy age-matched controls.

MMR

microsatellite instability


Input: Because ischemic hypoxia is often followed by reperfusion and reactive oxygen intermediate (ROI) generation, we examined the potential role of ROI in the control of VEGF gene expression.

VEGF

hypoxia


Input: Tetrandrine induces cell death in SAS human oral cancer cells through caspase activation-dependent apoptosis and LC3-I and LC3-II activation-dependent autophagy.

SAS

oral cancer


Input: These data provide a novel link between Hsp10/Hsp60 and cardiac protection in doxorubicin cardiomyopathy.

cardiomyopathy

cardiomyopathy


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

GPIbα

adhesion


Input: The results suggest that specific genetic variants in a subset of glutamatergic (GRIN2B) and polyaminergic (ODC1) neurosystem genes may be of importance in certain suicidal subjects.

suicidal


Input: An association study of four non-synonymous variants (three found in ADAM22, one in KCNA4) in a population of 104 non-familial lateral temporal epilepsy cases did not show any modification of susceptibility to this disorder.

lateral temporal epilepsy


Input: Recently, Fgf9-knockout mice exhibited male-to-female sex reversal, demonstrating a novel function for FGF9 in testicular development.

sex reversal


Input: In sarcomas, hypoxia-induced protein biomarkers such as Hypoxia Inducible Factor-1a (HIF-1a), vascular endothelial growth factor (VEGF), and Erythropoietin (Epo) have been previously reported in only a few studies.

VEGF

hypoxia


Input: These data provide first evidence that accelerated ClC-7/Ostm1 gating per se is deleterious, highlighting a physiological importance of the slow voltage-activation of ClC-7/Ostm1 in lysosomal function and bone resorption.

bone resorption


Input: Molecular genetic studies point to potential risk loci of psychotic depression shared with schizoaffective disorder (1q42, 22q11, 19p13), depression, bipolar disorder, and schizophrenia (6p, 8p22, 10p13-12, 10p14, 13q13-14, 13q32, 18p, 22q11-13) and several vulnerability genes possibly contributing to an increased risk of psychotic symptoms in depression (eg, BDNF, DBH, DTNBP1, DRD2, DRD4, GSK-3beta, MAO-A).

MAO-A

depression, bipolar disorder

MAO-A

depression, bipolar disorder


Input: The expression of IQGAP1 and RhoC in gastric cancer tissues and cell lines was detected by Western blotting.

RhoC

gastric cancer


Input: In this review, we discuss newly discovered functions of Roquin-1 in the immune system and inflammation, and in disease manifestation, and discuss avenues of further research.

Roquin

inflammation


Input: Mutating cysteine 106, 53, or 46 had no impact on the translocation of DJ-1 to mitochondria.

translocation


Input: In slow infections caused by scrapie and other unconventional agents, and in Alzheimer' s disease (AD), the formation of neuritic plaques and the increase in astrocytes and astrocyte-specific protein, glial fibrillary acidic protein (GFAP), are pathological changes common to both conditions.

GFAP

infections


Input: Recently, NAA10 germline variants were found in patients with the X-linked lethal Ogden syndrome, and in other familial or de novo cases with variable degrees of developmental delay, intellectual disability (ID) and cardiac anomalies.

Ogden syndrome

Ogden syndrome


Input: U87-LXSN glioma cells expressing wild-type p53 were relatively resistant to gamma-radiation.

glioma


Input: Subsequent real-time PCR has shown that mRNA for muscleblind protein 1 (MBNL1) and protocadherin 17 (PCDH17) are increased in BA 46 from subjects with schizophrenia of short, but not long, duration.

schizophrenia

schizophrenia


Input: We found abundant GATA-4 expression in both types of liver tumors in children, whereas it was absent in adult hepatocellular carcinoma.

GATA

adult hepatocellular carcinoma


Input: The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2).

schizophrenia

schizophrenia


Input: We found that activation of Epac2, a PKA-independent cAMP target and Rap guanine-nucleotide exchange factor (GEF), in cultured rat cortical neurons induced spine shrinkage, increased spine motility, removed synaptic GluR2/3-containing AMPA receptors and depressed excitatory transmission, whereas its inhibition promoted spine enlargement and stabilization.

enlargement


Input: However, PU. 1 translocation into the nucleus was significantly higher in CF monocytes than in controls, suggesting a role for this transcription factor in the control of TREM-1 expression.

PU. 1

translocation


Input: Spectral karyotyping (SKY) and fluorescence in situ hybridization analysis clearly demonstrated the presence of a balanced translocation between chromosomes 8 and 14 [t (8; 14) (q24; q32)] in the complex aberrations involving chromosome 3.

SKY

translocation


Input: Recently, the chromosomal translocation 3; 21, leading to the fusion gene AML1/MDS1/EVI1 (AME), was observed in an ET patient.

chromosomal translocation


Input: It is possible that hypoxia itself led to the upregulation of VEGF in tubular epithelia and vascular smooth muscle cells.

VEGF

hypoxia


Input: Surprisingly, mice with germline knockout of Lgr6 are predisposed to SCC development, through a mechanism that includes compensatory upregulation of Lgr5.

SCC

SCC


Input: All regions of hyperplasia showed moderate or strong CYP1B1 immunoreactivity.

hyperplasia


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

PENK

depression

PENK

depression


Input: Overexpression of miR-539 inhibited HCC cell viability and colony formation in vitro and impaired tumorigenesis of HCC cells in vivo.

HCC

HCC


Input: It was then revised to monophasic synovial sarcoma due to discovery of the characteristic chromosomal translocation (X; 18) (p11. 2; q11. 2).

monophasic synovial sarcoma


Input: Detection of specific chromosomal aberrations in urine using BCA-1 (oligo-CGH-array) enhances diagnostic sensitivity and predicts the aggressiveness of non-muscle-invasive bladder transitional cell carcinoma.

chromosomal aberrations


Input: The association between the AGRP Ala67Thr or the NPY Leu7Pro polymorphisms and indicators of body fatness (baseline leptin levels, body mass index (BMI) values and prevalence of overweight) are investigated in 582 participants of two large cohorts in The Netherlands (total 18 500 adult men and women), aged 20-40 years whose weight remained relatively constant or whose weight increased substantially (range 5. 5-47 kg) during a mean follow-up of 7 years.

NPY

body mass index


Input: By two-dimensional gel electrophoresis (2-DE) analyses and mass spectroscopic identification, 10 protein spots were found significantly changed in pancreatic carcinoma and 5 proteins including cyclin I, Rab GDP dissociation inhibitor beta (GDI2), alpha-1 antitrypsin precursor, Haptoglobin precursor, and Serotransferrin precursor were successfully identified.

pancreatic carcinoma


Input: Immunohistochemical analysis demonstrated widespread up-regulation of the hypoxic response pathway as a mechanism of enhanced VEGF expression.

VEGF

hypoxic


Input: Mutations in LMAN1 (also called ERGIC-53) result in combined deficiency of factor V and factor VIII (F5F8D), an autosomal recessive bleeding disorder characterized by coordinate reduction of both clotting proteins.

combined deficiency of factor V and factor VIII

combined deficiency of factor V and factor VIII


Input: Our finding that disruption of PHF21A by translocations in the PSS region is associated with ID adds to the growing list of ID-associated genes that emphasize the critical role of transcriptional regulation and chromatin remodeling in normal brain development and cognitive function.

PSS

PSS


Input: PTN knockdown was performed using small interfering (si) RNA, and the effects on retinal pigment epithelium (RPE) cells and human umbilical vascular endothelia cells (HUVECs) were observed in vitro under hyperglycemic and hypoxic conditions.

RPE

hypoxic


Input: Inversely, the expression of eNOS protein was markedly reduced in ARF rats as opposed to control rats.

eNOS

ARF

eNOS

ARF


Input: No sign of CNTF-induced toxicity was observed; however, depression occurred in three subjects after removal of the last capsule, which may have correlated with the lack of any future therapeutic option.

CNTF

depression

CNTF

depression


Input: In contrast, the missense mutations found in our four TAM-affected families induced constitutive STIM1 clustering, indicating that Ca (2 +) sensing was impaired.

TAM

TAM


Input: VEGF and HIF-1 expression was high in glioma cell lines even under normoxia, and increased after exposure to hypoxia or growth factor stimulation.

VEGF

hypoxia


Input: Thus, isolated congenital macrodactyly is caused by somatic activation of the PI3K/AKT cell-signaling pathway and is genetically and biochemically related to other overgrowth syndromes.

congenital macrodactyly

congenital macrodactyly


Input: The localization of the DRD5 gene to 4p15. 1-p15. 33 suggests the possibility that cis-position effects could be responsible for the altered D1-type dopamine receptor number observed in HD tissues or that the DRD5 gene could be a candidate for some of the abnormalities associated with the Wolf-Hirschhorn syndrome.

DRD5 gene

abnormalities


Input: Our results indicate that IL-17F produced by CD4 (+) T cells causes the inflammation in psoriasis partly through induction of IL-6 in keratinocytes.

inflammation


Input: Studies of the newly discovered galanin family peptide,' galanin-like peptide' (GALP), highlight the likely role of galanin peptides and receptors in the physiological coupling of body weight, adiposity and reproductive function.

GALP

body weight


Input: By additional screening of an M-D cohort, we identified co-segregation of RELN variants in two families (Thr1904Met, Ile1217Met) and identified two sporadic RELN mutation carriers (Pro1703Arg, Leu411Ile).

RELN

sporadic


Input: There were significant intergroup differences in the allelic frequencies of 5-HTTLPR/rs25531 (SA, LA, and LG) (P < 0. 05) and in the combined frequencies of lower-expressing alleles (SA and LG) and higher-expressing alleles (LA) (P < 0. 025) between subjects with PSD and nondepressed stroke.

PSD

stroke


Input: Functional loss of expression of breast cancer susceptibility gene 1 (BRCA1) has been implicated in genomic instability and cancer progression.

genomic instability


Input: Notably, these results were phenocopied by partial knockdown of STAT1 in a human prostate cancer cell line (PC3), suggesting that this pathway may play an important role in mediating the effects of IL-11 under hypoxic conditions.

hypoxic


Input: Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.

colon cancer

colon cancer


Input: Here we perform single-strand conformation polymorphism (SSCP) analysis of FLN1 throughout its entire coding region in six PH pedigrees, 31 sporadic female PH patients and 24 sporadic male PH patients.

sporadic


Input: On the basis of direct comparison of the mutations linked to either cold-aggravated pain or pain insensitivity, we propose a model in which the physiological consequence of a mutation, that is, augmented versus absent pain, is critically dependent on the type of NaV1. 9 hyperactivity.

NaV1. 9

cold


Input: Four MRI records were available, which revealed 2 patients with cochlear nerve aplasia and 1 patient with Chiari 1 malformation.

MRI

aplasia


Input: Notably, HIC1, IRF7, ASC, RIPK3, RASSF1A, FABP3, PRKCDBP, and PAX3 genes were hypermethylated in most lung cancer cell lines examined.

lung cancer


Input: These results implicate hypoxic stress as a modulator of SMN2 exon 7 splicing in disease progression and a coordinated regulation by hnRNP A1 and Sam68 as modifiers of hypoxia-induced skipping of SMN exon 7.

SMN

hypoxia


Input: Among the various tumor types observed in Ctip (+/-) heterozygous mice, large lymphomas are prevalent.

Ctip

lymphomas


Input: THe Xba I (-) allele of GLUT1 gene might be taken as a genetic marker of NIDDM with diabetic nephropathy and this genetic susceptibility appears to be associated with the insulin resistance in patients with NIDDM.

insulin resistance


Input: This is the second cryptic RUNX1 translocation in hematologic malignancies and the first in AML.

translocation


Input: However, in eutopic endometrium with endometriosis, PAR-2 expression only in secretory phase was higher than its cycle-matched normal controls.

PAR

endometriosis


Input: Bcl-2-associated translocation also was detected in three cases (cases 1, 2, and 4).

translocation


Input: Both rgs2 +/-and rgs2-/-mice exhibited a strong hypertensive phenotype, renovascular abnormalities, persistent constriction of the resistance vasculature, and prolonged response of the vasculature to vasoconstrictors in vivo.

renovascular


Input: To screen other hypoxia-inducible angiogenic genes for association with SALS, we selected 112 tagging single nucleotide polymorphisms (tgSNPs) that captured the common genetic variation across 16 VEGF-like and eight ANG-like hypoxia-inducible genes.

VEGF

hypoxia


Input: Frequent aberrant DNA methylation of ABCB1, FOXC1, PPP2R2B and PTEN in ductal carcinoma in situ and early invasive breast cancer.

ductal carcinoma in situ


Input: Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.

protoporphyrinogen oxidase

variegate porphyria

protoporphyrinogen oxidase

variegate porphyria


Input: The subjects investigated were 22 patients infected only with HCV, 44 cases of schistosomal hepatic fibrosis (SHF) who were either co-infected with HCV (22) or HCV-free (22), and 22 apparently healthy, schistosome-free and HCV-free controls.

SHF

hepatic fibrosis


Input: In leukemia cells, when endogenous HMGB1 increased starvation-induced autophagy, this reaction was inhibited by the suppression of HMGB1.

starvation


Input: Treatment of surgical bleeding in patients with FXI deficiency is reviewed with emphasis on the combined use of recombinant activated factor VII (rFVIIa; NovoSeven (R), Novo Nordisk, Bagsvaerd, Denmark) and the antifibrinolytic agent, tranexamic acid.

FXI

bleeding


Input: We studied expressions of hypoxia-inducible transcription factor-1 alpha (HIF-1 alpha), an activator of the VEGF gene, and VEGF by reverse transcriptase-polymerase chain reaction, Western blotting, and immunostaining.

VEGF

hypoxia


Input: When cells were stimulated with tumor necrosis factor-α (or high glucose), C242T p22 (phox) significantly inhibited tumor necrosis factor-α-induced Nox2 maturation, O2 (.-) production, mitogen-activated protein kinases and nuclear factor κB activation, and inflammation (all P < 0. 05).

inflammation


Input: An additional role of MYO7A in the RPE is indicated by the requirement for it in the light-dependent translocation of the ER (endoplasmic reticulum)-associated visual cycle enzyme RPE65 and normal functioning of the visual retinoid cycle.

RPE

translocation


Input: FISH in paraffin tissue sections revealed a rearrangement of CCND1 (11q13) in the oncocytoma cells.

FISH

oncocytoma


Input: Since Ishikawa cells express the putative ADM-receptor CRLR-RAMP2 the production and secretion of ADM with the consecutive upregulation of Bcl-2 could establish an autocrine/paracrine mechanism rescuing malignant cells from hypoxic cell death.

ADM

hypoxic


Input: RAGE protein expression was highly upregulated in primary melanomas compared to benign nevi in the two TMA (p < 0. 001 and p = 0. 005) as well as in sun-exposed melanomas (p = 0. 046).

RAGE

nevi


Input: We have improved the definition of the phenotype in males with anophthalmia linked to the ANOP1 locus, as microcephaly, ocular colobomas, and severe renal malformations have not been described in families linked to ANOP1.

malformations


Input: Among them, expression of adrenomedullin (ADM) was an interesting target because it is highly induced by hypoxia.

ADM

hypoxia


Input: Ataxin-2 also co-localized with FUS in sporadic and FUS-linked familial ALS patient motor neurons, co-precipitated with FUS in ALS spinal cord lysates, and co-localized with FUS in the ER-Golgi compartments in neuronal cell lines.

FUS

sporadic


Input: To determine whether factor V Leiden is associated with thrombotic events in patients with heparin-induced thrombocytopenia (HIT), we evaluated 165 patients with serologically confirmed HIT for the presence of factor V Leiden and determined the incidence of venous or arterial thrombosis during the period of HIT.

factor V Leiden

arterial thrombosis


Input: Glutathione-S-transferase pull-down experiments, co-immunoprecipitations, immunofluorescence microscopy, site-directed mutagenesis, and biosynthetic labeling experiments were performed to characterize the interaction between COMMD1 and ATP7B and the effects of WD causing mutations.

WD

WD


Input: Drug-induced hepatotoxicity test using gamma-glutamylcysteine synthetase knockdown rat.

gamma-glutamylcysteine synthetase

Drug-induced hepatotoxicity

gamma-glutamylcysteine synthetase

Drug-induced hepatotoxicity


Input: A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410--& gt; Val) leads to enzyme inactivation and familial chylomicronemia.

lipoprotein lipase

familial chylomicronemia

lipoprotein lipase

familial chylomicronemia


Input: Our data suggest that miR-221 may contribute to the development of the insulin resistance that typically accompanies obesity, by affecting PPAR signalling pathways and by directly downregulating ADIPOR1 and ETS1.

insulin resistance


Input: Several mutations spread across the ADAMTS13 gene have been identified in association with a deficiency of VWF-cleaving proteinase activity in patients with congenital TTP.

congenital TTP

congenital TTP


Input: p53 mutation, cyclin overexpression (especially in intestinal type), microsatellite instability, down regulation of E-cadherin (especially in diffuse type), and telomerase reactivation are some prominent examples.

E-cadherin

microsatellite instability


Input: The ALG1 mannosyltransferase defect described here represents a novel type of CDG, which should be referred to as CDG-Ik.

CDG-Ik

CDG-Ik


Input: Furthermore, signal pathway studies demonstrated that ConA induces signal transducer and activator of transcription 3 (STAT3) phosphorylation to trigger MIF upregulation, which in turn promotes Bcl-2/adenovirus E1B 19 kDa-interacting protein 3 (BNIP3)-dependent autophagy.

adenovirus


Input: The VEGF-D-expressing MCF-7 and MDA-MB-231 lines displayed resistance to apoptosis induced by hypoxia, staurosporin and cycloheximide.

VEGF-D

hypoxia


Input: Multivariate analysis showed that age, depth of invasion, lymphatic invasion, lymph node metastasis, Union Internationale Contre le Cancer staging, and Lauren classification (P <. 05), but not GRP78 and GRP94 expression, were independent prognostic factors for carcinomas (P >. 05).

carcinomas


Input: In conclusion, homozygous loss-of-function mutations of GLUT9 cause a total defect of uric acid absorption, leading to severe renal hypouricemia complicated by nephrolithiasis and exercise-induced acute renal failure.

renal hypouricemia

renal hypouricemia


Input: This report describes a long noncoding RNA (lncRNA) that is induced by cigarette smoke extract (CSE) and experiments utilizing lncRNAs to integrate inflammation with the epithelial-mesenchymal transition (EMT) in human bronchial epithelial (HBE) cells.

CSE

inflammation


Input: Although E-cadherin downregulation is a major event during EMT and tumor progression, E-cadherin reduction is probably not sufficient for full invasiveness.

EMT

tumor progression


Input: We investigated the effects of human recombinant HGF (hrHGF) on the selective neuronal cell death in the hippocampal CA1 region after transient forebrain ischemia in rats and explored the nature of the intracellular signaling pathway for the protection against this neuronal injury.

HGF

ischemia


Input: Our study points to the critical role of the WW domain in the function of the PQBP1 protein and provides an insight into the molecular mechanism that underlies the X chromosome-linked mental retardation entities classified globally as Renpenning syndrome.

Renpenning syndrome

Renpenning syndrome


Input: High epiregulin expression in human U87 glioma cells relies on IRE1α and promotes autocrine growth through EGF receptor.

glioma


Input: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

CASK

hypoplasia of the brainstem


Input: Here we present evidence that under hypoxia-mimicking conditions p53 acetylation is reduced to a greater extent at K320 site targeted by P300/CBP-associated factor (PCAF) than at K382 site targeted by p300/CBP.

PCAF

hypoxia


Input: Low levels of VEGF were detected by ELISA in the culture media of unstimulated cells; this was enhanced up to 7-fold by hypoxic stimulation.

VEGF

hypoxic


Input: Variant ICK affects cell processes that help explain microdysgenesis and polyspike networks observed on EEG in juvenile myoclonic epilepsy.

ICK

juvenile myoclonic epilepsy

ICK

juvenile myoclonic epilepsy


Input: Serum concentrations of IL-2, IL-4, IL-10, and IL-12 were measured in patients with DCM (WHO criteria), relatives with asymptomatic left ventricular enlargement (LVE), patients with ischaemic heart failure (IHD), and healthy controls.

asymptomatic


Input: The apelin/APJ system may be involved in the development of retinal neovascularization of ROP.

APJ

retinal neovascularization


Input: Our findings suggest that multiple amplification targets, including PMP22, TOP3A, and MAPK7 or genes close to these candidate oncogenes, may be present in 17p11. 2 approximately p12 and thus contribute to osteosarcoma tumorigenesis.

tumorigenesis


Input: Notably, 5-aza-CdR hypersensitivity is associated with markedly abundant expression of the pluripotency-associated DNA methyltransferase 3B (DNMT3B) compared with somatic tumor cells.

hypersensitivity


Input: The aim of this paper was to study the molecular mechanisms by which bcl-2 increases hypoxia-induced vascular endothelial growth factor (VEGF) expression.

VEGF

hypoxia


Input: Consistent with these findings, treatment with anti-MIF immunoglogulin G (IgG) antibodies reduced bacterial loads and improved survival in a mouse model of pneumococcal pneumonia and sepsis.

MIF

pneumococcal pneumonia


Input: The prevalence of BCL-2/J (H) translocation in Japanese adults appeared to be significantly lower than that in German adults.

translocation


Input: The 15 exons of FUS/TLS were sequenced in an initial cohort of 42 familial ALS (FALS) and 117 sporadic ALS (SALS) cases.

TLS

sporadic


Input: However, the influence of hypoxia in the formation of such a tumoral VEGF/VEGFR loop is not completely understood.

VEGF

hypoxia


Input: Genetic factors are implicated, including DNA mismatch repair (MMR) deficiency manifested as tumor microsatellite instability (MSI).

MMR

microsatellite instability


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

N-Ras

neurofibrosarcoma

N-Ras

neurofibrosarcoma


Input: In MYCN-amplified neuroblastoma cells we did not observe any significant change in the number of MYCN copies after cisplatin treatment, whereas MYCN-non-amplified SK-N-AS cells revealed during cisplatin treatment an increased number of MYCN gene copies caused by 2p gain in the majority of cells by FISH.

FISH

neuroblastoma


Input: Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs).

CD

CD


Input: Functional experiments were then used to link these genes into a regulatory pathway. ResultsWe report the first mutations of the PLAG1 gene in humans, as well as new mutations in HMGA2 and IGF2 in six sporadic and/or familial cases of SRS.

SRS

SRS


Input: Twenty neuroblastoma samples were analyzed with morphologic cytogenetics, and each of them was compared with MYCN amplification status by Southern blot and fluorescent in situ hybridization (FISH) with a genomic probe.

FISH

neuroblastoma


Input: Patients with brain metastases, showing low Kv10. 1 expression, had a significantly longer overall survival compared to those patients with high Kv10. 1 expression.

Kv10. 1

brain metastases


Input: This anti-tumor activity was linked to a significant increase in tumor necrotic area (p < 0. 02) and trends for decreased proliferation, increased apoptosis, decreased HIF-1alpha and lower tumor MVD (p = n. s.).

MVD

necrotic


Input: They propose that BRCA1 heterozygosity is associated with increased genomic instability, which accelerates the mutation rate of other critical genes, including the second copy of BRCA1.

genomic instability


Input: Chorea-acanthocytosis (ChAc), a lethal disease caused by defective chorein, is characterized by neurodegeneration and erythrocyte acanthocytosis.

chorein

neurodegeneration


Input: Two diplotype groups, carrying the haplotypes composed of the DDX5 SNP and 2 neighboring POLG2 SNPs were also significantly associated with an increased risk of advanced fibrosis and had comparable or better risk estimates.

fibrosis


Input: We conclude that the ACE2 T allele confers a high risk for hypertension and reduced antihypertensive response to ACE inhibitors.

hypertension

hypertension


Input: These findings suggest the possible role of ADM and SEPX1 as biomarkers of schizophrenia.

ADM

schizophrenia

ADM

schizophrenia


Input: We have performed genome-wide and targeted DNA copy number profiling and resequencing in early-onset and familial polyposis/CRC patients, and show that deletions affecting the open reading frame of the tumour suppressor gene FOCAD are recurrent and significantly enriched in CRC patients compared with unaffected controls.

FOCAD

familial polyposis


Input: Tissue hypoxia is a characteristic feature of malignant tumors and healing wounds, conditions that are associated with angiogenesis and with increased expression of vascular permeability factor (VPF; also called vascular endothelial growth factor, VEGF), a selective endothelial cell mitogen inducing microvascular hyperpermeability in vivo.

VEGF

hypoxia


Input: Does sperm morphology play a significant role in increased sex chromosomal disomy? A comparison between patients with teratozoospermia and OAT by FISH.

FISH

teratozoospermia


Input: These results suggest that suppression of miR-7 expression is important for maintaining the undifferentiated status of gastric epithelial cells, and thus contributes to gastric tumorigenesis.

tumorigenesis


Input: The expressions of MAGE-1, MAGE-3, GAGE1-6, GAGE1-2 and BAGE mRNA in 33 surgically resected HCC samples and 26 of their corresponding non-cancerous samples (11 liver cirrhosis and 15 chronic hepatitis) were studied by a reverse-transcription polymerase chain reaction, and were compared with clinicopathological parameters.

BAGE

chronic hepatitis


Input: Two groups: the synchronized swimming and non-athlete control,-were examined to study the possible modulation effect of sport on the association between 5-HTT gene polymorphism and aggression.

aggression


Input: Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome

proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome


Input: In family ANF, however, FAA was not linked to any locus previously associated with aneurysm formation, including fibrillin-1 and FAA1.

ANF

aneurysm


Input: These data suggest that the CCK promoter STR is unlikely to have a major genetic effect on the development of mood disorders in the Japanese population.

STR

mood disorders


Input: This study aims to investigate the renoprotective effect of recombinant human erythropoietin (rhEPO) treatment could preserve tubular epithelial cell regeneration and ameliorate renal fibrosis by dual inhibition of stress-induced senescence and EMT in unilateral ureteric obstruction (UUO) mouse model.

EMT

ureteric obstruction


Input: Four genetic variants, the 102T allele of HTR2A, the 825T allele of GNB3, the 23Cys allele of HTR2C, and the 64Arg/Arg genotype of ADRB3, were significantly associated with olanzapine-induced weight gain.

weight gain


Input: A significant correlation between BAL CCL5, CCL11, and IL-5 levels and eosinophils in patients with pulmonary fibrosis due to SM gas inhalation has been demonstrated, suggesting that these C-C chemokines and IL-5 contribute to the recruitment of eosinophils cells in the lung in these victims.

pulmonary fibrosis

pulmonary fibrosis


Input: We investigated the association between the HIF-1 alpha polymorphisms and the incidence and progression of transitional cell carcinoma of the bladder, and the relationship between the polymorphisms and the tissue vascular endothelial growth factor (VEGF) level or microvessel density (MVD).

MVD

transitional cell carcinoma of the bladder


Input: While atrial and brain natriuretic peptides (ANP, BNP) were immediately considered cardiac hormones and their role was well-characterized and defined in predicting risk in cardiovascular disease, evidence indicating the role of C-type natriuretic peptide (CNP) in cardiovascular regulation was slow to emerge until about 8 years ago.

CNP

cardiovascular disease


Input: Following IGFBP-4 treatment, tumour showed large necrotic areas, significantly increased numbers of apoptotic cells (36. 67 +/-7. 36 vs 7. 07 +/-1. 91, P < 0. 01 vs control), decreased cells undergoing mitosis (2. 31 +/-0. 32 vs 3. 61 +/-0. 27, P < 0. 01 vs control) and higher expression of IGFBP-4 (P < 0. 05 vs control).

necrotic


Input: To determine the frequency and timing of hypermethylation during multistep gastric carcinogenesis, non-neoplastic gastric mucosa (n = 118), adenomas (n = 61), and carcinomas (n = 64) were analyzed for their p16, human Mut L homologue 1 (hMLH1), death-associated protein (DAP)-kinase, thromobospondin-1 (THBS1), and tissue inhibitor of metalloproteinase 3 (TIMP-3) methylation status using methylation-specific PCR.

tissue inhibitor of metalloproteinase 3

non-neoplastic


Input: Prenatally pesticide exposed children carrying the PON1 192R-allele had higher abdominal circumference, body fat content, BMI Z-scores, blood pressure, and serum concentrations of leptin and IGF-I at school age than unexposed children.

blood pressure


Input: However, mutational analysis studies did not detect any germ-line CAPN1 DNA sequence abnormalities in 47 unrelated MEN1 patients and the results therefore exclude CAPN1 as the MEN1 gene.

MEN1 gene

abnormalities


Input: Although STR-3 could be induced in normal pulmonary fibroblasts with growth factors (basic fibroblast growth factor and platelet-derived growth factor) and/or 12-O-tetradecanoylphorbol-13-acetate, STR-3 induction was inhibited by all-trans retinoic acid, a commonly used chemopreventive agent for aerodigestive tract malignancies.

STR

malignancies


Input: The translocation, which involves the AML1 gene on chromosome 21 and the ETO gene on chromosome 8, generates an AML1-ETO fusion transcription factor.

translocation


Input: In liver biopsy specimens from patients with active cirrhosis of various etiologies, CB2 receptors were expressed in nonparenchymal cells located within and at the edge of fibrous septa in smooth muscle alpha-actin-positive cells.

cirrhosis

cirrhosis


Input: Coaction of stress and serotonin transporter genotype in predicting aggression at the transition to adulthood.

serotonin transporter

aggression


Input: PTTG overexpression disrupts mitosis and causes aneuploidy in single live cells and PTTG modulates p53 activity and p53 also mediates DNA damage-induced inhibition of PTTG transcription.

PTTG

aneuploidy


Input: However, hypoxia did not further increase the secreted VEGF level of the TTF-1 (+) lung cancer cells.

VEGF

hypoxia


Input: IL-2 has been also implicated in the stimulation of osteoclast activity in bone resorption.

bone resorption


Input: However, the pathological significance of BCL-2/IgH translocation, which is characteristic in FL, in newly diagnosed cases of this disease is not well understood.

translocation


Input: Similar modifications were seen in the RAD51 promoter, which is also downregulated by hypoxia, whereas exactly opposite changes were seen in the promoter of the hypoxia-inducible gene VEGF.

VEGF

hypoxia


Input: None of these genes was expressed in 1 case of benign, localized Castleman' s disease (CD), and only viral IL-6 and viral Cyclin-D were transcribed in 2 cases of benign lymphadenopathies with giant germinal center hyperplasia and increased vascularity.

hyperplasia


Input: None of the patients had serological evidence of infectious hepatitis, and none had increased levels of carcinoembryonic antigen.

carcinoembryonic antigen

infectious hepatitis


Input: We further show that miR-223 is a negative regulator of the Roquin ubiquitin ligase, Roquin curtails IL-17A synthesis, and the 3' untranslated region of Roquin is a target for miR-223, thus defining a molecular pathway by which IL-10 modulates IL-17-mediated inflammation.

Roquin

inflammation


Input: Epidermal growth factor receptor (EGFR) has been shown to play important roles in regulating diverse biological processes, including cell growth, differentiation, apoptosis, adhesion, and migration.

EGFR

adhesion


Input: We thus cannot exclude a possible role of NBN in the tumorigenesis of a certain type of astrocytic tumors.

NBN

tumorigenesis


Input: Neuregulin-1 (NRG1) is a potential therapeutic agent for the treatment of doxorubicin (Dox)-induced heart failure.

heart failure

heart failure


Input: For a restricted subset of individuals diagnosed with schizophrenia, the expression of dysfunctional NGR variants may contribute to increased disease risk.

NGR

schizophrenia

NGR

schizophrenia


Input: Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

FTL

Neuroferritinopathy

FTL

Neuroferritinopathy


Input: HNPCC is caused by germline mismatch repair (MMR) gene mutations and the genetic analysis of HNPCC therefore includes assessment of microsatellite instability (MSI) and immunohistochemical MMR protein expression in the tumor tissue.

MMR

microsatellite instability


Input: Thus, the aim of the study was to analyze the role of the Lys109Arg LEPR gene polymorphism on inflammatory (leptin and IL-6) and stress (cortisol) markers in obese subjects who followed a hypocaloric diet designed to lose weight.

LEPR gene

weight


Input: To investigate the effects of lithium (Li) and prostaglandin A1 (PGA1) on the expression of heat shock factor 1 (HSF-1), heat shock proteins (HSP), and apoptosis protease activating factor-1 (Apaf-1) induced by permanent focal ischemia in rats.

shock


Input: Finally, we show that netrin-1 protects macrophages from apoptosis under hypoxic conditions in a HIF-1α-dependent manner.

hypoxic


Input: Individuals with SIK1 mutations had short survival in cases with neonatal epilepsy onset, and an autism plus developmental syndrome after infantile spasms in others.

infantile spasms

infantile spasms


Input: To investigate the clinical application of fluorescence in situ hybridization (FISH) for assessing chromosome disorders of embryos in preimplantation diagnosis of carriers with der (15) t (Y; 15) (q12; p11) translocations.

chromosome disorders


Input: Subsequently, using western blotting and qRT-PCR, the expression of LGR5 was assessed in three glioma cell lines U87, U118 and U251.

glioma


Input: Our present study provided the first line of direct evidence suggesting that the CHRM5 gene combined with the CHRNA7 gene may be linked to schizophrenia.

schizophrenia

schizophrenia


Input: VEGF and hypoxia increased Ets-1 expression in cultured bovine retinal endothelial cells.

VEGF

hypoxia


Input: To clarify the role of CDX2 in colorectal carcinogenesis, we determined its genomic structure, and searched for mutations of CDX2 in 49 sporadic colorectal carcinomas and ten hereditary non-polyposis colorectal cancers (HNPCC) without microsatellite instability.

microsatellite instability


Input: In this study, the functional variants in genes involved in the hypoxia signaling pathway, hypoxia-inducible factor-1α (HIF1A) 1772C > T, 1790G > A, and vascular endothelial growth factor (VEGFA)-634G > C, were analyzed in search of the associations specific to abdominal aortic aneurysm (AAA) development.

VEGFA

hypoxia


Input: The results provide the first clear experimental demonstration that alterations that markedly reduce SPINK1 expression are associated with classic hereditary pancreatitis.

hereditary pancreatitis

hereditary pancreatitis


Input: We demonstrate that pre-treatment of estrogen receptor negative MDA-MB-231 breast cancer cells containing ectopically expressed HA-tagged sphingosine 1-phosphate receptor-2 (S1P2) with the sphingosine kinase 1/2 inhibitor SKi (2-(p-hydroxyanilino)-4-(p-chlorophenyl) thiazole) or the sphingosine kinase 2 selective inhibitor (R)-FTY720 methyl ether (ROMe) or sphingosine kinase 2 siRNA induced the translocation of HA-tagged S1P2 and Y416 phosphorylated c-Src to the nucleus of these cells.

sphingosine kinase 1

translocation


Input: The FTO-rs9939609 minor allele increased risk of obesity by 1. 25-fold/allele (p = 9. 0 × 10 (-19)), overweight by 1. 13-fold/allele (p = 1. 0 × 10 (-11)) and type 2 diabetes by 1. 15-fold/allele (p = 5. 5 × 10 (-8)).

FTO

overweight


Input: Furthermore, PROX1 reexpression suppressed the malignant phenotypes of thyroid carcinoma cells, such as proliferation, motility, adhesion, invasion, anchorage-independent growth, and polyploidy.

polyploidy


Input: Of 13 candidate genes, TICAM1, HIST3H3, CA1, CA3, PTPRZ1, and IL27RA are associated with fibrosis.

fibrosis


Input: The diabetic control rats (N = 6) presented a significant increase in blood glucose, sorbitol dehydrogenase, glycosylated hemoglobin and lipid peroxidation markers such as thiobarbituric acid reactive substances (TBARS) and hydroperoxides, and a significant decrease in plasma insulin and antioxidant enzymes such as glutathione peroxidase (GPx), glutathione-S-transferase (GST) and reduced glutathione (GSH) compared to normal rats (N = 6).

sorbitol dehydrogenase

hemoglobin


Input: CTC amount reflects the aggressiveness of tumors, therefore their detection can be used to determine the prognosis and treatment of cancer patients. The aim of this study was to evaluate human chorionic gonadotropin beta subunit (CGB) and gonadoliberin type 1 (GNRH1) expression as markers of tumor cells circulating in peripheral blood of gynecological cancer patients, indicating the metastatic spread of tumor.

aggressiveness


Input: Our objective was to investigate the presence of a B and T cell immune response directed against the glycine-rich cell wall protein (GRP) in patients with different autoimmune disorders and with food allergy.

GRP

autoimmune disorders


Input: Here, we describe a new clinical entity, Sweeney-Cox syndrome, associated with distinct de novo amino acid substitutions (p. Glu117Val and p. Glu117Gly) at a highly conserved glutamic acid residue located in the basic DNA binding domain of TWIST1, in two subjects with frontonasal dysplasia and additional malformations.

Sweeney-Cox syndrome

Sweeney-Cox syndrome


Input: EMT plays an essential role in tumor progression and metastasis.

EMT

tumor progression


Input: One family contains a pair of DNA-confirmed, monozygotic twins with narcolepsy who are discordant for cataplexy and have the HLA DR14 (Dw9)/DQB1 * 0503 and DR4 (Dw4)/DQB1 * 0302 haplotypes.

narcolepsy


Input: A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.

Schnyder corneal dystrophy

Schnyder corneal dystrophy


Input: The focal presence of p53 + cells was seen in a wide range of low and high grade lymphomas, including lymphadenitis and reactive tonsils.

lymphadenitis


Input: Accordingly, human metastatic BC cells that failed to activate STAT3 downstream of EGFR did display robust STAT3 activity upon adhesion to FN.

EGFR

adhesion


Input: Increase in JAK2 (V617F) alleles during follow-up could not be linked to fibrosis or blastic progression but was related to polycythemic transformation in ET.

fibrosis


Input: RESULTS: Trophoblast HBEGF, TGFA, and EGF were significantly reduced in preeclampsia compared to PTL and SGA, while p110/EGFR accumulated significantly on the surface of the chorionic villi (p < 0. 05).

EGFR

preeclampsia


Input: Based on these results we conclude that the RCC-associated t (6; 11) (p21; q13) translocation leads to a dramatic transcriptional and translational upregulation of TFEB due to promoter substitution, thereby severely unbalancing the nuclear ratios of the MITF/TFE subfamily members.

MITF

translocation


Input: A similar mutational analysis was also performed on nine acute monocytic/monoblastic leukemia cases, which did not identify any BRAF somatic mutations.

BRAF

acute monocytic/monoblastic leukemia


Input: These data indicate the critical involvement of Smad1 in mesangial matrix expansion in the early phase of diabetic nephropathy.

diabetic nephropathy


Input: Expression profiling for cancer stem cell-related genes suggested that FoxQ1 may negatively regulate the expression of Dachshund homolog 1 (DACH1), whose expression is lost in invasive breast cancer.

breast cancer

breast cancer


Input: The aim of the study was to understand the association between IL-21 polymorphisms and ischemic stroke, and the effects of these polymorphisms on gene expression.

ischemic stroke


Input: Deafness/dystonia syndrome thus may be caused by decreased levels of Tim23 in the mitochondrial inner membrane in affected tissues.

dystonia


Input: Comparing these data against a common control dataset derived from 1, 500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3.

spondylitis


Input: The aim of this study was to elucidate the expression and mechanism of LRP1 in hepatocellular carcinoma (HCC).

hepatocellular carcinoma


Input: DLTs were grade 3 elevated liver function tests (LFT), grade 3 fatigue, grade 3 encephalopathy, grade 3 diarrhea, and grade 3 diarrhea with grade 3 stomatitis; all DLTs were reversible.

LFT

stomatitis


Input: Serum levels of soluble CD30 improve International Prognostic Score in predicting the outcome of advanced Hodgkin' s lymphoma.

Hodgkin' s lymphoma

Hodgkin' s lymphoma


Input: The aim was to investigate upstream and downstream components of NIK transduction pathway in normal (NP), benign prostatic hyperplasia (BPH), prostatic intraepithelial neoplasia (PIN) and prostatic carcinoma (PC).

NIK

benign prostatic hyperplasia


Input: These findings indicate that MALT1 translocations are not restricted to indolent-appearing lymphomas, provide further evidence that API2-MALT1 and IGH-MALT1 translocations exhibit biologic differences, have implications regarding the pathogenesis of some extranodal DLBCL, and emphasize that a t (14; 18) (q32; q21) cannot be assumed to reflect a BCL2 translocation.

translocation


Input: Nevertheless, the association between NTM lymphadenitis and 3953C > T, a polymorphism previously linked to periodontitis, supports our hypothesis that oral exposure to mycobacteria during eruption of teeth plays a role in the etiology of cervical NTM lymphadenitis.

NTM

periodontitis


Input: In this study, we analyzed the effects of hypoxia, a common feature of solid tumors and a major drive to tumor angiogenesis, and of PA, a tryptophan catabolite produced under inflammatory conditions and endowed with several biologic properties, on the production of the angiogenic activator VEGF by advanced-stage human NB cell lines.

VEGF

hypoxia


Input: mRNA and protein levels of complex I subunits NDUFV1, NDUFV2 and NADUFS1, were assessed in striatal and lateral cerebellar hemisphere postmortem specimens and analyzed together with our previous data from prefrontal and parieto-occipital cortices specimens of patients with schizophrenia, bipolar disorder, major depression and healthy subjects.

major depression

major depression


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

EHF

adhesion


Input: Since all those proteins are downstream phosphorylation targets of PKC activity, these findings indicate that the Melia toosendan extract attenuates the EDN1-stimulated pigmentation by preferentially inhibiting PKC activity within melanocytes.

pigmentation


Input: We suggest that the macular dystrophy is caused by the RDH5 gene mutation as a phenotype variation in fundus albipunctatus.

fundus albipunctatus

fundus albipunctatus


Input: The increased expression of c-JUN was dependent on ATF2 and on activation of the MEK-ERK and JNK arms of the MAPK signaling pathways.

c-JUN

arms


Input: A 47-bp sequence located 985 to 939 bp 5' to the VEGF transcription initiation site mediated hypoxia-inducible reporter gene expression directed by a simian virus 40 promoter element that was otherwise minimally responsive to hypoxia.

VEGF

hypoxia


Input: To further evaluate the role of MSR1 in prostate cancer susceptibility, at Johns Hopkins Hospital, we studied five common variants of MSR1 in 301 patients with non-HPC who underwent prostate cancer treatment and in 250 control subjects who participated in prostate cancer-screening programs and had normal digital rectal examination and PSA levels (< 4 ng/ml).

PSA

prostate cancer susceptibility


Input: Factors that impair the availability of functional apolipoproteins or the activities of ABCA1 and ABCG1 could, therefore, strongly influence atherogenesis.

atherogenesis


Input: The results revealed that carriers of the 223Q alleles of LEPR had significantly higher body weight (P = 0. 0009) and BMI (P = 0. 0022) than non-carriers (i. e., 223R homozygotes); furthermore, the 223Q carriers also had a signiWcantly higher risk of obesity in comparison to non-carriers (P = 0. 0222).

LEPR

body weight


Input: Here, we studied the expression of the ten-eleven translocation (TET) gene family and activation-induced deaminase/apolipoprotein B mRNA-editing enzymes (AID/APOBEC) in the inferior parietal lobule (IPL) (BA39-40) and the cerebellum of psychotic (PSY) patients, depressed (DEP) patients and nonpsychiatric (CTR) subjects obtained from the Stanley Foundation Neuropathology Consortium Medical Research Institute.

AID

translocation


Input: The complexity of the chromosome aberrations reflect the advanced stage of this chondrosarcoma; we suggest a possible involvement of the EXT1 gene located on chromosome 8.

EXT1 gene

chromosome aberrations


Input: The aim of the study is to the determine the profiles of cell cycle genes and a new candidate oncogene of URG4/URGCP which play role in leukemia, establishing the association between the early prognosis of cancer and the quantitation of genetic changes, and bringing a molecular approach to definite diagnosis.

URGCP

leukemia


Input: A total of 201 patients with self-healing cutaneous leishmaniasis (SCL) and 92 asymptomatic infected controls (AIC) from Fars province as well as 58 patients with chronic cutaneous leishmaniasis (CCL) and their 688 normal controls (normal Iranian population or NIP) who were collected from the different areas of Iran were included in the study.

NIP

cutaneous leishmaniasis


Input: TNF-α (10 ng/ml) attenuated serum starvation-induced apoptosis of hepatocellular carcinoma cells, and autophagy conferred this process.

TNF-α

starvation


Input: The mRNA and protein levels of RECK in colon tumor tissues and their normal counterparts were compared.

RECK

colon tumor

RECK

colon tumor


Input: Bakuchiol analogs, especially Delta3, 2-hydroxybakuchiol, are monoamine transporter inhibitors involved in regulating dopaminergic and noradrenergic neurotransmission and may have represented potential pharmacotherapies for disorders such as Parkinson' s disease, depression, and cocaine addiction.

monoamine transporter

cocaine addiction

monoamine transporter

cocaine addiction


Input: The downregulation of Nrf2 in glioma cells led to much lower accumulation of HIF-1α protein and limited expression of VEGF and other HIF-1α target genes in mimicking hypoxia.

VEGF

hypoxia


Input: miR-23a was also highly expressed in glioma cell lines SHG44, U251, and U87 cells.

glioma


Input: In vivo investigations of pancreatic tumors with restored SLIT2 expression demonstrated reduced invasion, metastasis, and vascularization, with opposing effects produced by ROBO1 silencing in tumor cells or sequestration of endogenous SLIT2.

vascularization


Input: Integrated transcriptomic and functional analyses identified BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 (BNIP3)-a negative regulator of both Rheb and Bcl2 prosurvival family members-as a key downstream target of FoxOs to inhibit mTORC1 function and promote apoptosis in response to energy stress.

adenovirus


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

thyrotropin-releasing hormone

amnesia

thyrotropin-releasing hormone

amnesia


Input: In this study, we genotyped three LRRC4 haplotype-tagging SNPs (htSNP) by direct sequencing in case-control studies, which included 183 Han Chinese patients diagnosed with pituitary adenoma and 183 age-, gender-matched, and geographically matched Han Chinese controls.

pituitary adenoma


Input: In addition, the inhibition of NF-κB led to a marked decrease in the expression of HIF-1α, which indicated that IL-17A activated HIF-1α via the NF-κB pathway in hypoxia.

hypoxia


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

autosomal recessive centronuclear myopathy

autosomal recessive centronuclear myopathy


Input: The objective of the present study was to systematically test the HDAC genes for its association with schizophrenia.

HDAC

schizophrenia

HDAC

schizophrenia


Input: GADD45A is a mediator of CD437 induced apoptosis in ovarian carcinoma cells.

ovarian carcinoma

ovarian carcinoma


Input: Within a large population of German adults (n = 1875), we evaluated eight CARD15 polymorphisms for associations with atopic phenotypes.

atopic


Input: This is the first reported case of a congenital coralliform cataract phenotype associated with the mutation of Gly61Cys (P. G61C) in the CRYGD gene; it demonstrates a possible mechanism of action for the mutant gene.

CRYGD

coralliform cataract

CRYGD

coralliform cataract


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

alcohol dependence

alcohol dependence


Input: In the Ewing' s sarcoma and fibromatosis samples, two sarcomas where miR-182-5p is significantly downregulated, multiple predicted targets were significantly upregulated, including HMCN1, NKX2-2, SCNN1G, and SOX2.

fibromatosis


Input: Age-related hearing impairment (ARHI), or presbycusis, is the most prevalent sensory impairment in the elderly.

ARHI

presbycusis


Input: It is known, however, that hypoxia potently increases ADM expression by activation of the transcription factor complex hypoxia inducible factor 1 (HIF-1).

ADM

hypoxia


Input: We report a case of late-onset Miyoshi myopathy presenting at 48 years of age, with novel mutations in the dysferlin gene.

dysferlin

Miyoshi myopathy

dysferlin

Miyoshi myopathy


Input: While the RANTES-403 genotype showed no association with nephropathy, the frequency of the-28G allele was significantly higher in the DN2 group (urinary albuminuria-to-creatinine ratio [ACR] > or = 300 mg/g creatinine, serum creatinine < 2. 0 mg/dl) than in the DN0 (ACR < 30 mg/g creatinine) and DN1 (ACR > or = 30 mg/g creatinine and < 300 mg/g creatinine) groups.

albuminuria


Input: In hereditary cases the hMLH1 and hMSH2 genes were shown to have a great importance, and in order to examine the somatic inactivation mechanisms of the two MMR genes hMLH1 and hMSH2 we screened 37 Hungarian sporadic colorectal cancer patients for allelic imbalance (AI), microsatellite instability (MSI), hMLH1 promoter hypermethylation and somatic mutations.

MMR

microsatellite instability


Input: Alteration of working memory but not in anxiety or stress response in p300/CBP associated factor (PCAF) histone acetylase knockout mice bred on a C57BL/6 background.

PCAF

anxiety


Input: Our results confirmed the significant role of chromosome abnormalities, Y-chromosome microdeletions, and GGN repeats in Chinese male infertility.

GGN

male infertility


Input: Introduction of shRNA against EVI1 into EVI1 (high) leukemia cells down-regulated Ang1 expression.

leukemia


Input: Total RNAs were extracted from HCC tissues or peripheral blood mononuclear cells from patients with HCC, liver diseases devoid of cancer, non-hepatic tumors, and healthy controls, respectively.

HCC

liver diseases


Input: ], an unbalanced translocation [46, XY,-4, + der (4) t (4; 8) (p 15. 2; p21. 1)] leading to Wolf-Hirschhorn syndrome, and a partial inverted duplication in conjunction with a partial deletion of chromosome 5p [46, XX,-5, + der (5) (: p13-p15. 1:: p15. 1-qter)] which is responsible for the manifestation of the cri-du-chat syndrome.

cri-du-chat syndrome


Input: These data comprise the first report to provide the role of Akt/tuberin/mTORC1/2 in the regulation of N-cadherin and vimentin that are involved in the progression of fibrosis in kidney tumor of TSC patients.

fibrosis


Input: We also observed that genistein inhibits the translocation of telomerase catalytic subunit [human telomerase reverse transcriptase (hTERT)] to the nucleus, which may result in telomere shortening, although the activity of telomerase is unaffected, along with the inhibition of metaphase spread of chromosomes.

telomerase reverse transcriptase

translocation


Input: The differentiated status of CD44 knock-down BCSCs was evaluated on the basis of changes in CD44 + CD24-phenotype, tumorigenesis in NOD/SCID mice, and gene expression in relation to renewal status, metastasis, and cell cycle in comparison with BCSCs and non-BCSCs.

tumorigenesis


Input: The dissociation of AC from an AKAP150-TRPV1 complex in dorsal root ganglia neurons abolishes sensitization of TRPV1 induced by forskolin and prostaglandin E (2).

dissociation


Input: At least, SCC antigen, G protein, glutathione S-transferase, manganese superoxide dismutase, annexins, voltage-dependent anion channel, cyclophilin A, stratifin and galectin 7 are candidates for targeted proteins.

galectin 7

SCC

galectin 7

SCC


Input: The significance of p53 mutations in the primary lesion for recurrent hepatocellular carcinoma (HCC) was evaluated.

HCC

recurrent hepatocellular carcinoma


Input: Using site-directed mutagenesis, mutations known or predicted to abrogate catalytic activity (copper translocation) were introduced into ATP7B and the effect of these mutations on the intracellular trafficking of the protein was investigated.

translocation


Input: In patients with mutations of PRSS1 (N29I, R122H) and SPINK1 (N34S) the parameters such as calcification, dilatation of the main pancreatic duct, diabetes mellitus, hospital treatments, and surgery were recorded.

dilatation


Input: Taken together, these results demonstrate an unexpected role for ASC in Sonic hedgehog-driven medulloblastoma tumorigenesis, thus identifying ASC as a promising novel target for antitumor therapy.

ASC

tumorigenesis


Input: IAPP expression is increased in the context of insulin resistance, the major risk factor for developing T2D.

IAPP

insulin resistance


Input: Other groups have identified FGF1 as a relevant risk factor in ovarian cancer.

ovarian cancer

ovarian cancer


Input: Electroretinographic (ERG) abnormalities have been reported in multiple sclerosis (MS), as well as the presence of circulating antiretinal antibodies.

ERG

abnormalities


Input: Immunohistochemistry of later-stage mouse embryos demonstrated tissue-specific expression in the derivatives of all three germ layers. qRT-PCR expression analysis of osteoblast and fibroblast cell lines available from two probands was suggestive of Hedgehog pathway activation, indicating that the ZSWIM6 mutation associated with AFND may lead to the craniofacial, brain and limb malformations through the disruption of Hedgehog signaling.

AFND

AFND


Input: Here we determined Delta5 desaturase (FADS1), Delta6 desaturase (FADS2), elongase (HELO1 [ELOVL5]), peroxisomal (PEX19), and Delta9 desaturase (stearoyl-CoA desaturase, SCD) mRNA expression, and relevant fatty acid product: precursor ratios as estimates of enzyme activities, in the postmortem prefrontal cortex (PFC) of patients with SZ (n = 20) and non-psychiatric controls (n = 20).

SZ

SZ


Input: The purposes of this study were to measure both the mRNA and protein expression levels of high-temperature requirement serine peptidase 1 (HtrA1) in human esophageal cancer tissues and their adjacent, comparatively normal esophageal tissues.

esophageal


Input: Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.

pituitary hormone deficiency


Input: We suggest that the increased risk of venous thromboembolism due to raloxifene treatment may be related to increased tPA levels, but not TAFI levels.

tPA

venous thromboembolism

tPA

venous thromboembolism


Input: Recessive pRTA with ocular and central nervous system abnormalities is caused by loss-of-function mutations in basolateral membrane Na-HCO3-cotransporter NBCe1/SLC4A4.

nervous system abnormalities