Input: Although bcl-2 has been shown to be involved in the development of follicular lymphoma via a chromosomal translocation t (14; 18), little is known about its function in non-hematolymphoid neoplasms.

chromosomal translocation


Input: The present study provides evidence that nucleotides 2, 181-2, 190 of the bovine GLUT1 mRNA 3'-UTR forms a complex with brain tumor cytosolic proteins that serves to increase GLUT1 gene expression at the posttranscriptional level.

UTR

brain tumor


Input: In contrast to VEGF, Ang1 is down regulated by hypoxia.

VEGF

hypoxia


Input: Our data indicate that the B7-H1/PD-1 axis contributes to immune suppression in human HCC, with blockade of this pathway carrying important therapeutic implications.

HCC

immune suppression


Input: The FISH and RT-PCR assays developed in this study can serve as diagnostic adjuncts for the identification of this novel C11orf95-MKL2 fusion oncogene in chondroid lipoma.

FISH

chondroid lipoma


Input: Two single nucleotide polymorphisms in the ET-1 gene (EDN1) have been reported to be associated with blood pressure (BP).

blood pressure


Input: In polymyositis, SSB-positive myonuclei were observed in regenerating fibers and muscle fibers in the vicinity of inflammatory infiltrates, suggesting that the increase of SSB is due to muscle fiber regeneration following necrosis and inflammation.

SSB

polymyositis


Input: All FTLD-tau and most cases with increased HNE-positive bands had marked astrocytosis as determined by glial fibrillary acidic protein (GFAP) immunohistochemistry and increased GFAP expression on Western blotting; 2 FTLD cases with tau-negative ubiquitin-immunoreactive inclusions and with increased GFAP expression did not have increased HNE adducts.

HNE

astrocytosis


Input: PML/RARα and PLZF/RARα were analyzed for the ability to form high-molecular-weight complexes, the protein stability and the potential to induce a leukemic phenotype in the presence of the interfering peptides.

PLZF

weight


Input: In a sample of 245 nuclear families (n = 1074) originating from the same geographical region as the families revealing the linkage, SNP and microsatellite association analyses of the four regional candidate genes, GRM3, RELN, SEMA3A and VGF, revealed no significant association to the clinical diagnosis of schizophrenia.

schizophrenia

schizophrenia


Input: Both STZ-induced diabetes and insulin-induced hypoglycemia promote a significant increase in TBARS levels and a decrease in glutathione disulfide reductase activity.

glutathione disulfide reductase

hypoglycemia

glutathione disulfide reductase

hypoglycemia


Input: We have previously reported findings on GH1 gene mutations in 28 russian patients with severe congenital IGHD (-3. 22 +/-1. 2 height sDs at the age of 1yr); five heterozygous dominant negative splice site mutations in intron 2, intron 3, and exon 4 of the GH1 gene were identified in 32. 1% of the cohort.

GH1 gene

height


Input: The epithelial-mesenchymal transition (EMT) is known to be associated with tumor progression, invasion and metastasis in colorectal cancer (CRC).

EMT

tumor progression


Input: Because imatinib could also inhibit the activity of KIT, a 145-kD transmembrane glycoprotein, and because gastrointestinal stromal tumors (GISTs), the most common mesenchymal tumors of the digestive tract, are characterized by expression of a gain-of-function mutation in KIT, imatinib was used in therapeutic trials of GISTs beginning in 1999.

transmembrane glycoprotein

gastrointestinal stromal tumors


Input: Familial and sporadic cases affected bymutations in KVLQT1, HERG, and KCNE1 can nowbe genetically screened to identify individuals at risk of developing this disorder.

sporadic


Input: NAC1, a member of the POZ/BTB transcription factor family, exhibited increased mRNA levels in the nucleus accumbens of the rat weeks after cocaine use.

cocaine use

cocaine use


Input: The FAK-Y861 and/or-Y925 phosphorylations led to a subsequently FAK translocation out of lipid domains.

FAK

translocation


Input: Here, we describe a CML patient in lymphoid blast crisis associated with a new chromosomal abnormality identified, dic (7; 12) (p12. 21; p12. 2) and i (12) (q10) using classical cytogenetics and spectral karyotype analysis.

blast crisis


Input: In view of the clinical similarities between polyarticular osteoarthritis (POA) with metacarpophalangeal (MCP) joint involvement and the arthropathy that occurs in hereditary haemochromatosis (HH), it was hypothesized that osteochondral damage in both disorders may be due to localized iron overload.

MCP

iron overload


Input: Inhibitory effect of prolactin on the development of fatty liver induced by ACTH in thrat.

ACTH

fatty liver

ACTH

fatty liver


Input: The somatic hit inactivating the second allele of the APC gene is located in the mutation cluster region of the gene; this is not a random event since it depends on the position of the germline mutation.

APC gene

hit


Input: Carbon monoxide ameliorates chronic murine colitis through a heme oxygenase 1-dependent pathway.

heme oxygenase 1

colitis

heme oxygenase 1

colitis


Input: Taken together, our study implicates BCL2L1 and DLC1 as potential druggable targets for specific subsets of GC cases.

GC

GC


Input: Four strains demonstrated RDS that was less pronounced than in most AT cells: one was from a patient with Nijmegen breakage syndrome, one was from a patient without ataxia but with choreiform movement disorder, telangiectasia, and elevated concentrations of alpha-fetoprotein in the blood, and two were from AT patients.

alpha-fetoprotein

telangiectasia


Input: A third FA-derived cell line, FA-AML1, carried a translocation with ectopic localization of 3q26 including EVI1.

translocation


Input: The odds ratio (OR) for being a carrier of FTO rs9939609 according to (1) one unit alteration in z-scores for BMI, height and LBM at given ages and (2) longitudinal changes in BMI and height z-scores were assessed by logistic regression.

FTO

height


Input: A patient with treatment-related acute myeloid leukemia presented a t (3; 11) (p11; p15) as the only cytogenetic abnormality.

cytogenetic abnormality


Input: Samples of venous blood were collected from 1634 patients with stroke, including cerebral thrombosis, lacunar cerebral infarction, and cerebral hemorrhage confirmed by CT or MRI, and sex-, and age-matched 1171 controls without cerebrovascular diseases.

MRI

cerebrovascular diseases


Input: Four genes with a major role in HDL-C and TG metabolism APOA1, APOC2, APOC-III and LPL were sequenced in 2385 participants with mixed dyslipidemia in a randomized, double-blind, active-controlled study comparing therapy with FA alone, in combination with statins, or statin alone.

blind


Input: We investigated the relevant genomic region of the keratin 8 gene in 80 patients with familial pancreatitis without a cationic trypsinogen (PRSS1) gene mutation from 52 different families, 21 patients with familial hereditary pancreatitis and a PRSS1 mutation from 20 different families, 126 patients with sporadic pancreatitis without a PRSS1 mutation, 61 patients with alcoholic pancreatitis and 271 controls by direct DNA sequencing.

sporadic


Input: Adding MRI to annual mammography screening improves early breast cancer detection in women with familial risk or BRCA1/2 mutation, but breast cancer specific metastasis free survival (MFS) remains unknown.

MRI

breast cancer


Input: No other statistically significant difference was found for any of the HLA antigens examined either in HCC patients as a whole group or in the subgroups according to sex, course of illness, AFP status, alcohol consumption, liver cirrhosis or blood groups.

AFP

alcohol consumption


Input: Genome-wide association study using microsatellite markers suggested SLC23A3, CNPPD1, and FAM134A genes as candidates for schizophrenia susceptibility in the Japanese population.

schizophrenia

schizophrenia


Input: Angiogenesis is induced by soluble factors such as vascular endothelial growth factor (VEGF) released from tumor cells in hypoxia.

VEGF

hypoxia


Input: We report the effects of uroguanylin-mediated activation of the GC-C/cGMP pathway in vitro on extracellular cGMP transport and in vivo in rat models of inflammation-and stress-induced visceral hypersensitivity.

uroguanylin

hypersensitivity


Input: Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation.

infertility


Input: We found that breast tumors which were both estrogen receptor-negative and lymph node positive were associated with high YB-1 expression (P = 0. 017).

breast tumors

breast tumors


Input: Using array-comparative genomic hybridization, we found a complex karyotype without the characteristic chromosomal aberrations accompanying cyclin D1 translocation in mantle cell lymphoma; instead, there was monoallelic deletion of AKT interacting protein and glycogen synthase kinase-3 β genes, both involved in the AKT/glycogen synthase kinase-3 β cascade-controlling nuclear levels of cyclin D1.

AKT

translocation


Input: We show that (i) in the choroid plexus carcinoma, the germline mutation was detected in a homozygous state due to copy-neutral LOH/uniparental disomy, (ii) in the secondary AML, a complex karyotype led to loss of the wild-type TP53 allele, (iii) in the Wilms tumor, the somatic mutation c. 814G > A led to compound heterozygosity.

uniparental disomy


Input: These strategies facilitate comprehensive analysis of ABCC6 for mutations in PXE.

PXE

PXE


Input: Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are responsible for more than 50% of cases of human malignant autosomal recessive osteopetrosis (ARO), a rare inherited bone disease with increased bone density owing to a failure in bone resorption.

proton pump

bone density


Input: These results provide evidence that IGF pathway polymorphisms have functional effects on growth and central obesity and indicate that genotype-phenotype relationships are ethnic specific.

IGF

central obesity


Input: We studied gene-environment interactions between CETP SNPs and dietary fat intake, adherence to the Mediterranean diet, alcohol consumption, smoking, obesity, and diabetes on HDL-C in 4, 210 high cardiovascular risk subjects from a Mediterranean population.

CETP

alcohol consumption


Input: Insulin increased protein kinase B/Akt translocation to the the plasma membrane about twofold [(p < 0. 03) in non-diabetic cells but this effect was impaired in diabetic cells (approximately 30%; p > 0. 1)].

protein kinase B

translocation


Input: Intracellular accumulation of HIF1alpha protein was detected as early as 30 min of post-hypoxia, followed by the increase of mRNA for vascular endothelial growth factor (VEGF) and nuclear accumulation of the ID1-2 transcription factors by 4 h. In hypoxic SH-SY5Y NB cells, real-time PCR analysis showed that the genes involved in maintenance of cell-cell and cell-matrix interactions (i. e.

VEGF

hypoxic


Input: We recently identified intriguing alterations in the FGF pathway in a novel model of bladder carcinoma that consists of a parental cell line (TSU-Pr1/T24) and two sublines with increasing metastatic potential (TSU-Pr1-B1 and TSU-Pr1-B2), which were derived successively through in vivo cycling.

bladder carcinoma


Input: Cblb-deficiency was unique among these four in precipitating rapid clinical autoimmune disease when combined with Aire-deficiency, resulting in autoimmune exocrine pancreatitis with median age of survival of only 25 d. Massive lymphocytic infiltration selectively destroyed most of the exocrine acinar cells of the pancreas and submandibular salivary gland, and CD4 (+) and CD8 (+) subsets were necessary and sufficient to transfer the disease.

lymphocytic infiltration


Input: PEITC treatment also significantly reduced the hypoxia-induced secretion of VEGF.

VEGF

hypoxia


Input: With in situ hybridization and Southern blot analysis of somatic cell hybrid DNA, the human insulin receptor gene was mapped to the distal short arm of chromosome 19 (bands p13. 2----p13. 3), a site involved in a nonrandom translocation in pre-B-cell acute leukemia.

insulin receptor gene

translocation


Input: and Gemini 0097 [1alpha, 25-dihydroxy-20R-21 (3-trideuteromethyl-3-hydroxy-4, 4, 4-trideuterobutyl)-23-yne-26, 27-hexafluoro-19-nor-cholecalciferol] administration inhibited by 60% the NMU-induced mammary tumor burden compared with the NMU-treated control group, but these compounds were devoid of hypercalcemia toxicity.

NMU

hypercalcemia


Input: Of the remaining 127 index patients, 40 (31%) had 6q24 abnormalities, 43 (34%) had mutations in KCNJ11, 31 (24%) had mutations in ABCC8, and 13 (10%) had mutations in INS.

abnormalities


Input: The telomere length in 34 leukemia patients versus 20 normal controls was compared by using Flow-FISH, and the relationship between telomere length and therapeutic effect and prognosis was analyzed preliminarily.

FISH

leukemia


Input: Immunohistochemically, the cyst-lining epithelia were almost negative for mucin core protein (MUC) 1, MUC2, and MUC6, and showed only focal staining for MUC5AC.

cyst


Input: Inflammation-mediated genomic instability: roles of activation-induced cytidine deaminase in carcinogenesis.

activation-induced cytidine deaminase

genomic instability


Input: A single nucleotide polymorphism (SNP) in the Taq1A site near the DRD2 gene has been associated in several studies with smoking behaviour.

DRD2 gene

smoking


Input: Thus, AF9Q34 encodes a novel RASGAP gene that appears to be deregulated as a result of the translocation.

translocation


Input: In line with the significant correlations found at mRNA level, elevated Cx43 protein levels were linked with significantly improved breast cancer outcome, offering Cx43 protein detection as an independent prognostic marker stronger than vascular invasion or necrosis.

necrosis


Input: Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.

Paraplegin

sporadic


Input: Our observations suggest that PIK3CA and AKT1 are CS susceptibility genes.

CS

CS


Input: Taken together, these data suggest that EWS/FLI and NR0B1 physically interact, coordinately modulate gene expression, and mediate the transformed phenotype of Ewing' s sarcoma.

sarcoma


Input: In this study, 1, 430 blood samples from either symptomatic children or asymptomatic carriers were collected from 14 sites throughout the country between 1999 and 2003 for the analysis of dihydrofolate reductase (dhfr) sequence.

dihydrofolate reductase

asymptomatic


Input: Therefore the FISH assay in tissue was found to be very sensitive in detection of IGH/BCL2 translocation and was helpful in diagnosis of follicular lymphoma or in clarification of the cell origin of lymphoma when karyotype analysis was not available.

translocation


Input: Females with mutations in the PDHA1 gene may be asymptomatic or have a milder phenotype as a result of skewed X-inactivation, while males are typically more severely affected.

PDHA1 gene

asymptomatic


Input: The aim of this study was to evaluate whether reappearance of polymerase chain reaction (PCR) positivity for the Bcl-2/IgH translocation following a phase of molecular remission in autografted follicular lymphoma (FL) patients is always associated with reappearance of the original neoplastic clone.

translocation


Input: It is in this context that we previously demonstrated that under hypoxia, bcl-2 protein promotes HIF-1/Vascular Endothelial Growth Factor (VEGF)-mediated tumour angiogenesis.

VEGF

hypoxia


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

EGFR

smoking


Input: In cases of TGCT and PVNS carrying this translocation, it is present in a minority of the intratumoral cells, leading to CSF1 expression only in these cells, whereas the majority of cells express CSF1R but not CSF1, suggesting a tumor-landscaping effect with aberrant CSF1 expression in the neoplastic cells, leading to the abnormal accumulation of nonneoplastic cells that form a tumorous mass.

translocation


Input: Antisense oligonucleotides (ASs) to proliferating cell nuclear antigen (PCNA) and Cdc2 kinase (Cdc2 k) can arrest cell cycle progression and inhibit neointimal hyperplasia.

PCNA

hyperplasia


Input: Elevation of SSAO activity is observed in atherosclerosis, diabetes mellitus and obesity.

SSAO

diabetes mellitus

SSAO

diabetes mellitus


Input: Furthermore, differences were observed in genes contributing to fatty acid, cholesterol and triglyceride metabolism (FATP2, ELOVL6, PNPLA3, SREBF1) and in genes involved in regulating lipolysis (ANGPTL4) between the insulin-resistant and-sensitive subjects especially during hyperinsulinemia.

hyperinsulinemia


Input: Expression of the bcl-2 oncogene product and chromosomal translocation t (14; 18) in Hodgkin' s disease.

chromosomal translocation


Input: The Schizophrenia and Bipolar Disorder associated BRD1 gene is regulated upon chronic restraint stress.

Bipolar Disorder

Bipolar Disorder


Input: Eighty-six regions from 16 MSI-positive sporadic colorectal carcinomas were examined for mutations in repeat nucleotide sequences of the tumour suppressor genes transforming growth factor beta type II receptor (TGFBRII), insulin-like growth factor II receptor (IGFIIR), and BAX, and the mismatch repair genes MSH3 and MSH6.

sporadic


Input: Susceptibility to ankylosing spondylitis: evidence for the role of ERAP1, TGFb1 and TLR9 gene polymorphisms.

spondylitis


Input: The importance of PAX3 during human embryonal development is readily seen in Waardenburg patients, who present a dominant inherited syndrome consisting mainly of craniofacial abnormalities, pigmentation deficiencies, and deafness, consecutive to PAX3 mutations.

pigmentation


Input: Although allelic heterogeneity at the BTK locus may partly explain clinical variability in families with XLA, compensatory and redundant mechanisms involved in B-cell development must play a role in the phenotypic diversity of the disease.

BTK

XLA

BTK

XLA


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

psychosis

psychosis


Input: The prognosis of AML-MRC patients with myelodysplastic syndrome (MDS)-related cytogenetics sole was similar to those with history of MDS or myelodysplastic/myeloproliferative neoplasm (MDS/MPN).

MRC

myelodysplastic/myeloproliferative neoplasm


Input: T-cell prolymphocytic leukemia (T-PLL) is an aggressive post-thymic T-cell malignancy characterized by the recurrent inv (14) (q11q32)/t (14; 14) (q11; q32) or t (X; 14) (q28; q11) leading to activation of either the TCL1 or MTCP1 gene, respectively.

MTCP1 gene

malignancy


Input: We phenotyped Pet-1 KO mice for fear conditioning and extinction, and on a battery of assays for anxiety-and depression-related behaviors.

depression

depression


Input: The IRS1 T allele was associated with lower insulin resistance in both the SOS and the MDC studies.

MDC

insulin resistance


Input: In a London clinic cohort, the HREM was the most common mutation in familial ALS +/-FTD: C9ORF72 29/112 (26%), SOD1 27/112 (24%), TARDBP 1/112 (1%) and FUS 4/112 (4%) and detected in 13/216 (6%) of unselected sporadic ALS cases but was rare in controls (3/856, 0. 3%).

FUS

sporadic


Input: This result, combined with the mapping of the HOXA locus to human chromosome 7p15, suggested that one of the HOXA genes might be involved in the t (7; 11) (p15; p15) translocation found in some human myeloid leukaemia patients.

HOXA

myeloid leukaemia


Input: When gene expression was analyzed on a custom cDNA array that contained 2304 known genes, infection with ARHI adenovirus up-regulated 15 genes relative to control cells infected with LacZ adenovirus.

ARHI

adenovirus


Input: To investigate fibrodysplasia ossificans progressiva (FOP), a rare genetic disease leading to extraskeletal bone formation through endochondral ossification, gene-corrected (rescued) iPSC clones (resFOP-iPSC) were generated from patient-derived iPSC (FOP-iPSC) as genetically matched controls, and the stepwise induction method of mesenchymal stromal cells (iMSCs) through neural crest cell (NCC) lineage was used to recapitulate the disease phenotype.

NCC

fibrodysplasia ossificans progressiva


Input: We have previously shown that FASN inhibition with orlistat significantly reduces the number of spontaneous mediastinal lymph node metastases following the implantation of B16-F10 mouse melanoma cells in the peritoneal cavity of C57BL/6 mice.

lymph node metastases


Input: Factors other than mild impairment of CYP21 contribute to the variability of the clinical phenotype in hyperandrogenic states including acne.

mild


Input: In contrast, LVDP recovery and infarct size were unchanged in Tie2-CYP2J2 Tr and Tie2-sEH Tr hearts.

infarct


Input: These findings identify COL11A1 as a locus for fibrochondrogenesis and indicate that there might be phenotypic manifestations among carriers.

fibrochondrogenesis

fibrochondrogenesis


Input: These results suggested that hMSH2 and hPMS1 may be useful as CD4 + helper T cell antigens for immunotherapy of pancreatic cancer patients and that serum IgG antibodies may be useful for diagnosis of patients with pancreatic ductal adenocarcinoma and DM/PM.

pancreatic ductal adenocarcinoma


Input: Immunohistochemistry analysis demonstrated that ginkgolide B diminished P-selectin, PF4, RANTES, and CD40L expression in aortic plaque in ApoE (-/-) mice.

plaque


Input: Ucn2 has marked and beneficial hemodynamic, hormonal, and renal effects in experimental HF.

HF

HF


Input: OBJECTIVE: The objective of the study was to determine the frequency and nature of LHX3 mutations in patients with isolated GH deficiency or combined pituitary hormone deficiency (CPHD) and characterize the molecular consequences of mutations.

pituitary hormone deficiency


Input: The data show that in CRF (a) the mRNA of hepatic lipase is downregulated, and hepatic lipase production, activity and release are impaired, (b) that this is due to the state of secondary hyperparathyroidism of CRF since both acute and chronic excess of PTH were associated with these abnormalities, (c) and that prevention of excess PTH by PTX of CRF rats or blocking the effect of PTH by treatment with verapamil corrected the derangement in hepatic lipase metabolism.

hepatic lipase

abnormalities


Input: While no specific mutations in BRCA1/2 have been reported in malignant peripheral nerve sheath tumors (MPNSTs), MPNST cells could be effectively targeted with a PARP inhibitor to drive cells to synthetic lethality due to their complex karyotype and high level of inherent genomic instability.

genomic instability


Input: Variant phenotypes associated with PRRT2 mutations, found in 36. 0% of the affected cases, included febrile convulsions, epilepsy, infantile non-convulsive seizures (INCS) and nocturnal convulsions (NC).

convulsive seizures


Input: Three different erythropoietic porphyrias (EP) have been described: erythropoietic protoporphyria (EPP, MIM 177000) the most frequent, congenital erythropoietic porphyria (CEP, MIM 263700), and the very rare hepatoerythropoietic porphyria (HEP, MIM 176100).

MIM

erythropoietic protoporphyria


Input: Mutation in SULT2B1 leads to an ARCI phenotype via increased proliferation of human keratinocytes, thickening of epithelial layers, and altered epidermal cholesterol metabolism.

ARCI

ARCI


Input: Participants with the GSTM1 null (GSTM1-0) genotype and > or = 20 pack-years of smoking had the highest mean levels of CRP, fibrinogen, von Willebrand factor, ICAM-1, and VCAM-1 and lowest mean levels of albumin compared to other combinations of genotype and smoking.

fibrinogen


Input: Prior work has tried to correlate the polymorphisms with post-stroke depression (PSD), the results nevertheless remain indefinitive.

PSD

stroke


Input: In primary ovarian cancers, CGIs of GPR150 (in 4 of 15 cancers), ITGA8 (2/15), PRTFDC1 (1/15), and HOXD11 (1/15) were methylated.

ovarian cancers

ovarian cancers


Input: To present, however, the possible involvement of Cbl-b in multiple sclerosis (MS), an autoimmune demyelinating disease mediated by T-helper 1 (Th1) cells is still unclear.

Cbl-b

demyelinating disease


Input: DNA restriction fragment length polymorphisms of the human debrisoquine 4-hydroxylase gene locus (CYP2D6), and the metabolic phenotype for debrisoquine have been studied in a group of healthy volunteers, a group of lung cancer patients and two control groups (chronic obstructive pulmonary disease patients and patients with cancers at sites other than the lung).

chronic obstructive pulmonary disease


Input: A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.

monilethrix

monilethrix


Input: Recently, BCL-2/J (H) translocation was detected in peripheral blood lymphocytes from more than 50% of healthy white individuals.

translocation


Input: We explored whether polymorphisms of the beta (2) AR and ADCY6 genes (ADRB2 and ADCY6, respectively) affect RBC adhesion to laminin.

adhesion


Input: Stimulation with HRG induced phosphorylation of ErbB3 and metastatic properties including MMP-9 expression, invasion, adhesion and experimental lung metastasis in vivo.

HRG

adhesion


Input: We recently reported depression-like behavior in the forced swimming test in PACAP deficient mice.

PACAP

depression

PACAP

depression


Input: Screening MRI is recommended for women with an approximately 20-25% or greater lifetime risk of breast cancer, including women with a strong family history of breast or ovarian cancer and women who were treated for Hodgkin disease.

MRI

breast cancer


Input: Prognostic effects of low or high CCR7 and FOXP3 expression were evaluated by Cox regression and Kaplan-Meier analysis, as well as the correlation between CCR7 positive score and intratumoral FOXP3 (+) cell number in a longitudinal assessment.

regression


Input: To explore the spectrum of USH2A disease-causing mutations among Scandinavian USH2 cases, patients from 118 unrelated families of which 27 previously had been found to carry mutations in exons 1-21 were subjected to extensive DNA sequence analysis of the full size USH2A gene.


Input: In addition, mice lacking the Egr1 gene show a defect in prostate tumorigenesis.

Egr1 gene

tumorigenesis


Input: The cellular origin of IL6 in primary and metastatic prostate cancer was examined in formalin-fixed, paraffin-embedded tissues using a highly sensitive and specific chromogenic in situ hybridization (CISH) assay that underwent extensive analytical validation.

CISH

metastatic prostate cancer


Input: On the basis of the controls with cancer-free liver diseases, a significantly increased risk of HCC was found in all the genetic models.

HCC

liver diseases


Input: Sixty-six patients with bipolar disorder, 27 first degree relatives of these patients and 56 healthy volunteers were screened for mutations and polymorphisms in GDNF gene.

GDNF

bipolar disorder

GDNF

bipolar disorder


Input: TEM of MCF-7 as well as induction of VE-cad tyrosine phosphorylation and dissociation of β-catenin from the VE-cad complex by MCF-7 cells were lower than in MDA-MB-231 cells.

β-catenin

cad


Input: However, although GLP-1 receptor agonists are known to produce modest but statistically significant weight loss in patients with diabetes mellitus, our knowledge of how endogenous GLP-1 regulates food intake and body weight remains limited.

body weight


Input: TFPI-2 was expressed in luminal, FSS-exposed SMCs together with caspase-3 in the rat carotid neointima after balloon injury.

neointima


Input: Epileptic rats showed decreased cortical thickness, and diffuse gliosis was observed with GFAP antibody.

GFAP

gliosis

GFAP

gliosis


Input: Of the two IGF ligands, IGF-I interacts exclusively with IGF1R, whereas IGF-II recognizes an additional receptor (XR), because the growth retardation of embryos lacking both IGR1R and IGF-II (30% of normal birthweight) is more severe than that manifested in either class of single Igf1r or Igf2 null mutants (45 and 60% of normal, respectively).

IGF-I

birthweight


Input: The results of this study suggest that unique HMGCL gene mutations exist in Taiwanese HL deficiency patients.

HMGCL

HL deficiency

HMGCL

HL deficiency


Input: Lopinavir-induced cytosolic translocation of HuR and TNF-alpha and IL-6 synthesis was attenuated by specific chemical inhibitor of MEK (PD98058) or over-expression of dominant negative mutant of MEK1.

translocation


Input: Neonatal concentrations of VIP, CGRP, BDNF, and NT4/5 were higher (ANOVA, all p values & lt; 0. 0001 by Scheffe test for pairwise differences) in children in the autistic spectrum and in those with mental retardation without autism than in control children.

VIP

mental retardation

VIP

mental retardation


Input: Both FOXE1 and NKX2-1 were associated with the increased risk of sporadic Japanese PTC.

PTC

PTC


Input: Magnetic resonance imaging (MRI) and ultrasound may improve the ability to detect breast cancer at an early stage.

MRI

breast cancer


Input: Finally, we found that short hairpin RNA (shRNA)-based knockdown of several genes amplified in dedifferentiated liposarcoma, including CDK4 and YEATS4, decreased cell proliferation.

dedifferentiated liposarcoma

dedifferentiated liposarcoma


Input: Among these identified proteins, 33 proteins including keratin 17 (KRT17), biliverdin reductase B (BLVRB), proteasome activator subunit 1 (PSME1), manganese superoxide dismutase (MnSOD), high-mobility group box-1 (HMGB1), heat shock protein 70 (HSP70), peroxiredoxin (PRDX1), keratin 13 (KRT13), and so on were overexpressed, and 14 proteins including cystatin B (CSTB), tropomyosin 2 (TPM2), annexin 1 (ANX1), transgelin (TAGLN), keratin 19 (KRT19), stratifin (SFN), and so on were down-expressed in ESCC.

ESCC

ESCC


Input: We found that chronic intermittent ethanol exposure (CIE) did not produce tolerance [loss of righting reflex (LORR)] or withdrawal-anxiety in C57BL/6J, GluN2A or PSD-95 knockout mice assayed 2-3 days later.

anxiety


Input: Monoallelic ATR gene targeting in MLH1-deficient HCT 116 colon carcinoma cells resulted in hypersensitivity to genotoxic stress accompanied by dramatic increases in fragile site instability, and chromosomal amplifications and rearrangements.

ATR gene

hypersensitivity


Input: ClC-7 is a chloride-proton exchanger localized in lysosomes and in the resorption lacuna in osteoclasts where it is essential for bone resorption.

bone resorption


Input: Molecular analysis of clear cell sarcoma with translocation (1; 6) (p32. 3; q21).

clear cell sarcoma


Input: In conclusion, Notch2 (Q2319X) mice exhibit cancellous and cortical bone osteopenia, enhanced osteoclastogenesis, and increased bone resorption.

bone resorption


Input: The frequency of TAP2 * 0201 was significantly higher in young adult patients with HCV-related liver cirrhosis than in HCV carriers with normal ALT (P < 0. 05), and tended to be higher than in uninfected normal subjects (P = 0. 05).

liver cirrhosis


Input: Erythropoietin receptor expression and correlation to tamoxifen response and prognosis in breast cancer.

Erythropoietin receptor

breast cancer

Erythropoietin receptor

breast cancer


Input: Previously we demonstrated that both hypoxia inducible factor-1 (HIF-1) and bone morphogenetic protein-4 (BMP4) up-regulate transient receptor potential canonical (TRPC) 1 and TRPC6, resulting in increased basal intracellular Ca (2 +) concentration ([Ca (2 +)] i) in pulmonary arterial smooth muscle cells (PASMCs), driving development of chronic hypoxia (CH)-induced pulmonary hypertension (CHPH).

pulmonary hypertension


Input: Most human follicular B-cell lymphomas are associated with t (14; 18) chromosome translocation that joins the bcl-2 gene with the IgH locus.

bcl-2 gene

chromosome translocation


Input: Four hours after seawater inhalation, histological changes, contents of TNF-α, IL-1 β and IL-10, and the expression of Cx43 in lungs were detected.

TNF

inhalation


Input: VEGF-A expression by UM cells is mainly controlled by hypoxia and involves the HIF-1alpha pathway, thus indicating an important role for the tumor cell environment.

VEGF-A

hypoxia


Input: Further, the relation between breast cancer risk and SHBG rs6259 was found to vary by body mass index (weight (kg)/height (m) (2)) (P for interaction = 0. 003).

SHBG

height


Input: OBJECTIVE: The objective of this study was to evaluate the mutational spectrum of NLRP7 and KHDC3L (C6orf221) in women with sporadic and recurrent androgenetic complete hydatidiform moles (AnCHM) and biparental hydatidiform moles (BiHM) to address the hypothesis that autosomal recessive mutations in these genes are only or primarily associated with BiHM.

sporadic


Input: Further correlations revealed that 8 genes might play important role in pathogenesis of glial tumors, while changes in GP2, KCNG2 and KIR3DL3 should be considered as passenger mutations, consequence of high level of genomic instability.

genomic instability


Input: CONCLUSION: The results describe a novel function of Bcl-2 in EMT induction, provide insight into tumor progression, and implicate the Bcl-2/Twist1 complex as a potential target for developing chemotherapeutics.

EMT

tumor progression


Input: We conclude that PAF induces VEGF gene expression in human astrocytes, and the PAF-induced increase in the expression of VEGF may modulate nervous tissue injury due to hypoxia.

VEGF

hypoxia


Input: Here we report that this translocation juxtaposes the AML1 gene with a novel gene, named MTG8, on chromosome 8, resulting in the synthesis of an AML1-MTG8 fusion transcript.

translocation


Input: Effects of ectopic GPNMB overexpression on cell proliferation, invasion, and tumorigenesis were determined by (3) H-thymidine incorporation, matrigel invasion, soft agar cloning assays, and murine xenograft study.

GPNMB

tumorigenesis


Input: The CNVs of highest interest comprised or disrupted strong candidate or confirmed genes for epileptic and other neurodevelopmental disorders, including BRWD3, GRIN2A, KCNC3, PRKCE, PRRT2, SHANK1, and TSPAN7.

neurodevelopmental disorders


Input: Showing moderate hearing loss with asymptomatic variable vestibular dysfunction and no retinal degeneration, the DFNA11 phenotype is mildest among phenotypes caused by MYO7A mutations.

vestibular dysfunction


Input: Beclin-1 and LC3 expression were significantly correlated with T categories, differentiation and lymph node metastasis.

lymph node metastasis


Input: There was an increase in Mn-and Cu-Zn-SOD activity in SAH, MV, M, and Turner' s syndrome.

SOD

SAH

SOD

SAH


Input: Retinoic acid induces leukemia cell G1 arrest and transition into differentiation by inhibiting cyclin-dependent kinase-activating kinase binding and phosphorylation of PML/RARalpha.

cyclin-dependent kinase-activating kinase

leukemia


Input: CONCLUSIONS: It is possible that upregulation of HIF-1/VEGF is involved in the enhancement of MMP-9 expression under hypoxic conditions.

VEGF

hypoxic


Input: Our data therefore support a model that deficiency in dkc1 and nola1 in the H/ACA RNP complex likely contributes to the hematopoietic phenotype through p53 activation associated with rRNA processing defects rather than telomerase deficiency during the initial stage of DC pathogenesis.

DC

DC


Input: We sequenced the CHD7 gene in 110 individuals who had received the clinical diagnosis of CHARGE syndrome, and we detected mutations in 64 (58%).

CHARGE syndrome

CHARGE syndrome


Input: In addition to the previously reported symptoms of severe runting, abnormalities of liver nuclei and greatly reduced lifespan (which appeared less severe in the truncation mutant), both types of ERCC1-mutant mouse exhibited an absence of subcutaneous fat, early onset of ferritin deposition in the spleen, kidney malfunction, gross abnormalities of ploidy and cytoplasmic invaginations in nuclei of liver and kidney, and compromised NER and cross-link repair.

absence of subcutaneous fat


Input: These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica. Some proteins can mislocate in the TAs.

paralysis periodica paramyotonica

paralysis periodica paramyotonica


Input: Therefore, a defect of mRNA stabilization could be responsible for the resistance of UM384 cells to TPA-induced differentiation, suggesting a possible role for the post-transcriptional regulation in the leukemogenesis.

TPA

leukemogenesis


Input: In the Roscommon Family Study, the risk in relatives of schizophrenic vs. control probands was significantly increased for psychotic affective illness (PAI), but not for non-psychotic affective illness (NPAI) or alcoholism (ALC).

ALC

psychotic


Input: We establish herein that cell contact-mediated nTreg regulatory function is inhibited by inflammation, especially in the presence of the complement C3b receptor (CD46).

inflammation


Input: Therefore, AA in children may have abnormalities at SCF/c-kit signal transduction levels.

SCF

abnormalities


Input: Here we describe identification of the causative gene in autosomal-dominant partial epilepsy with auditory features (ADPEAF, MIM 600512), a rare form of idiopathic lateral temporal lobe epilepsy characterized by partial seizures with auditory disturbances.

MIM

temporal lobe epilepsy


Input: Antitumor effects of PLGA nanoparticles encapsulating the human PNAS-4 gene combined with cisplatin in ovarian cancer.

ovarian cancer

ovarian cancer


Input: The synthesis of VEGF is regulated by hypoxia-mediated control of gene transcription, alternative mRNA splicing and proteolytic processing.

VEGF

hypoxia


Input: Among the analysis of the hypermethylation status of 158 lung tumors, XPC hypermethylation is more common in nonsmokers (39 of 94, 41%) than in smokers (14 of 64, 22%; P = 0. 010).

XPC

lung tumors

XPC

lung tumors


Input: CLIP-PCR, by use of dried blood spots with a pooling strategy, efficiently offers a highly sensitive and high-throughput approach to detect asymptomatic submicroscopic infections with reduced cost and labor, making it an ideal tool for large-scale malaria surveillance in elimination settings.

CLIP

asymptomatic


Input: Sphingosine kinase 1 (SK1) is a key regulator of the dynamic ceramide/sphingosine 1-phosphate rheostat balance and important in the pathological cancer genesis, progression, and metastasis processes.

metastasis


Input: Taken together, these observations suggest that (a) stress associated with the withdrawal symptoms are sufficient enough to induce breakdown of the BBB function, and (b) modulation of serotonin 5-HT2c receptors may have some protective influence on the stress symptoms and the BBB disruption.

withdrawal symptoms

withdrawal symptoms


Input: Changes in oligodendroglia-related genes reported in SZ, BD and MDD appear to display considerable similarities (particularly decreased expression of MAG, ERBB, TF, PLP1, MOG, MOBP, MOG), while changes in cocaine abuse and alcoholism are more diverse.

cocaine abuse

cocaine abuse


Input: All male TGR developed significant albuminuria starting at 8 to 15 wk of age; systolic BP was not elevated.

TGR

albuminuria


Input: In this model, VIP treatment failed to correct many of the genotypic abnormalities, and, in parallel, incompletely corrected the phenotypic changes as well.

VIP

abnormalities


Input: Systemic primary carnitine deficiency is an autosomal recessive disorder of the carnitine cycle caused by mutations in the SLC22A5 gene that encodes the carnitine transporter, organic cation transporter.

Systemic primary carnitine deficiency

Systemic primary carnitine deficiency


Input: In this study, the possible relation of the expression pattern of arginine methyltransferase 1 and colon cancer progression is investigated.

methyltransferase 1

colon cancer


Input: The results suggest that the up-regulation of TMPRSS2 gene and the down-regulation of KLK11 gene in advanced and more aggressive tumors may open the feasibility of being used as biomarkers distinguishing the tumor aggressiveness as well as novel prognostic indicators for PCa.

KLK11 gene

aggressiveness


Input: In this animal model, hydrocephalus formation is specifically induced during a critical time period of early postnatal development, in which IKK/NF-κB-induced neuroinflammation interferes with ependymal ciliogenesis.

NF-κB

hydrocephalus


Input: In family 2, immunohistochemistry analysis showed isolated loss of PMS2 expression in all tumours in the affected patients, including rhabdomyosarcoma itself and the surrounding normal tissue.

rhabdomyosarcoma

rhabdomyosarcoma


Input: Moreover, flow cytometry may be a new convenient and valuable tool for analyzing the AQP9 status of APL patients compared to current methods such as western blotting.

APL

APL


Input: Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

adenylyl cyclase 5

familial dyskinesia and facial myokymia

adenylyl cyclase 5

familial dyskinesia and facial myokymia


Input: Classification and regression tree analysis demonstrated a higher-order interaction between smoking status, ADH1B, FLJ13089, and FLJ35784 in HNSCC risk.

regression


Input: Recent cytogenetic and molecular analyses have shown that most LGFMSs have a characteristic chromosomal abnormality, t (7; 16) (q33; p11), resulting in the FUS-CREB3L2 fusion gene.

chromosomal abnormality


Input: We have demonstrated that low OSM levels are a potential indicator of neonatal jaundice and the need for phototherapy.

OSM

neonatal jaundice


Input: The investigation compared 37 men who were family history positive for alcoholism with 37 family history negative controls on postinfusion levels of cortisol, prolactin, and growth hormone following 0. 12 and 0. 20 mg/kg of diazepam given IV over 7 minutes.

growth hormone

alcoholism

growth hormone

alcoholism


Input: Raising the gammaglobulin concentration to approximately 40 mg/ml plasma in the rats almost totally blunted the rise in serum EPO levels despite a fall of the hematocrit to 20%.

EPO

fall


Input: We have investigated the adhesion of the human fibrosarcoma cell line, HT-1080, transfected with glial fibrillary acidic protein (GFAP) to a variety of extracellular matrix macromolecules (ECM) including collagen type IV, laminin, and fibronectin.

ECM

fibrosarcoma


Input: Novel small leucine-rich repeat protein podocan is a negative regulator of migration and proliferation of smooth muscle cells, modulates neointima formation, and is expressed in human atheroma.

podocan

neointima formation


Input: Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome.

3-M syndrome

3-M syndrome


Input: The girls, who showed mild virilization in relation to their CYP21 genotype, had inherited the AR gene mutation from their father, who showed no symptoms of androgen insensitivity.

mild


Input: Our data demonstrate that the polymorphisms rs3027898 and rs1059702 of IRAK1 gene are associated with SLE in the Chinese Han population.

SLE

SLE


Input: Here, we unveil a cascade of events involving peroxisome proliferator-activated receptor (PPAR) β/δ and the oncogene Src, which promotes the development of ultraviolet (UV)-induced skin cancer in mice.

PPAR

skin cancer


Input: The data indicate that Raf-1/MEK/ERK participates in crosstalk with 4EBP1, which represents a novel pathway interaction leading to increased protein synthesis, cell growth, and kidney tumor formation.

ERK

kidney tumor

ERK

kidney tumor


Input: This review aims to summarize recent research findings on lipocalin 2 (LCN2), a newly identified biomarker and a potential therapeutic target for breast cancer, and the possible mechanisms underlying its role in tumorigenesis and metastasis.

tumorigenesis


Input: To elucidate possible roles of angiopoietins and VEGF in the development of hypoxic pulmonary hypertension (PH), changes in the expression of angiogenic factors were examined.

VEGF

hypoxic


Input: Hypoxia-inducible factor-dependent induction of netrin-1 dampens inflammation caused by hypoxia.

hypoxia


Input: Reducing RFX1 in CD4 (+) T cells is sufficient to cause lupus-like T and B cell hyperactivity, whereas overexpressing RFX1 suppresses T cell reactivity.

hyperactivity


Input: After further molecular screening of individuals with SCN, we identified 19 additional affected individuals with homozygous HAX1 mutations, including three belonging to the original pedigree described by Kostmann.

SCN

SCN


Input: ABC294640 caused similar autophagic responses in PC-3 prostate and MDA-MB-231 breast adenocarcinoma cells.

breast adenocarcinoma


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

weight


Input: The genes encoding for tumor necrosis factor-alpha (TNF-alpha), epidermal growth factor receptor (EGFR) and the vitamin D receptor (VDR) are colocalized to inflammatory bowel disease-associated linkage regions on chromosomes 6, 7 and 12.

VDR

bowel disease


Input: In vivo treatment of mice with ongoing experimental autoimmune encephalomyelitis (EAE; a mouse model of multiple sclerosis) diminishes paralysis and progression of the disease and reduces IL-17A-secreting CD4 (+) T cells in the periphery and central nervous system (CNS).

paralysis


Input: There were significant decreases in the DR3, 5, 6, 8 group (DR5, DR6, or DR8) antigen frequencies in patients with retinal perivasculitis, high intraocular pressure (or secondary glaucoma), and optic nerve and/or macular lesion.

secondary glaucoma


Input: We propose an alternative hypothesis and suggest that the translocation of another gene, c-sis, may be more important.

gene, c-sis

translocation


Input: Pachyonychia congenita (PC) is a rare genodermatosis caused by mutations in any of the four genes KRT6A, KRT6B, KRT16, or KRT17, which can lead to dystrophic, thickened nails and focal palmoplantar keratoderma, among other manifestations.

genodermatosis


Input: Tnfa signaling through tnfr2 protects skin against oxidative stress-induced inflammation.

inflammation


Input: Stereological investigation of adrenal glands from another set of PEPCK-IGF-II transgenic mice and controls (6-month-old males) demonstrated that the increase in adrenal weight in transgenic mice is mainly caused by a 50% increase in the number of zona fasciculata cells, whereas cell volume and zonation of transgenic adrenal glands remained unchanged.

PEPCK

weight


Input: Development of acute lymphoblastic leukemia and myeloproliferative disorder in transgenic mice expressing p210bcr/abl: a novel transgenic model for human Ph1-positive leukemias.

myeloproliferative disorder


Input: multidrug resistance-associated protein 1 (MRP1)] is a membrane-bound pump excreting a variety of xenobiotics from the cell, and thus ABCC1 may play an important role in smoking-related lung function loss and development of chronic obstructive pulmonary disease (COPD).

smoking


Input: Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.

beta-glucuronidase

mucopolysaccharidosis type VII

beta-glucuronidase

mucopolysaccharidosis type VII


Input: Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR).

inflammatory disorder


Input: Lysinuric Protein Intolerance (LPI, MIM 222700) is a recessive aminoaciduria caused by defective cationic amino acid transport in epithelial cells of intestine and kidney.

MIM

aminoaciduria


Input: Based on these results, we propose that miR-145, as an important regulator of SOX2, carries crucial roles in laryngeal SCC tumorigenesis.

tumorigenesis


Input: In streptozotocin (STZ)-induced diabetic rats, mesangial and glomerular hypertrophy and an increase in the glomerular filtration rate (GFR) and albuminuria were observed after 12 weeks of STZ injection.

STZ

albuminuria


Input: AMY plaques sometimes colocalized with Abeta (x-42) deposits, but they did not colocalize with Abeta (x-40) plaque cores in either SAD or FAD brains.

AMY

plaque


Input: Cyclin D3 immunoreactivity in follicular lymphoma is independent of the t (6; 14) (p21. 1; q32. 3) translocation or cyclin D3 gene amplification and is correlated with histologic grade and Ki-67 labeling index.

Cyclin D3

translocation


Input: Higher CD4 (+) IL-10 (-) IFN-γ (+) T cells frequencies and production of proinflammatory cytokines (including TNF and IL-2) at recruitment (first antenatal visit) had a protective association with birth weight and future (delivery) P. falciparum infection, respectively.

birth weight


Input: Association results in humans indicate pleiotropic effects for SNPs within or surrounding CNTN4 on obesity, lipids and blood pressure traits and for SNPs near IL5RA, TRNT1, CRBN, and LRRN1 on central obesity and blood pressure.

CRBN

central obesity


Input: Further, tumorigenesis in Dcn (-/-) mice was associated with disruption of intestinal maturation, including decreased cell differentiation and increased proliferation, which were linked to the downregulation of p21 (WAF1/cip1), p27 (kip1), intestinal trefoil factor and E-cadherin and to the upregulation of beta-catenin signaling.

intestinal trefoil factor

tumorigenesis


Input: The expression of ROCK1 was markedly upregulated in glioma tissues, as well as in U87 and U251 cells.

glioma


Input: However, only very recently has the gene for MPS IIIC (heparin acetyl CoA: alpha-glucosaminide N-acetyltransferase, or HGSNAT) been identified.

HGSNAT

MPS IIIC

HGSNAT

MPS IIIC


Input: The methylation status of exon 1 of the BCSG1 gene in breast cancer, and matched non-neoplastic adjacent and benign lesion tissues was extensively examined using methylation-specific PCR analysis.

non-neoplastic


Input: Characterization of Potocki-Lupski syndrome (dup (17) (p11. 2p11. 2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

autism


Input: The development of HNPCC is associated with defects in DNA mismatch repair (MMR) pathway resulting in microsatellite instability (MSI).

MMR

microsatellite instability


Input: Inhibition of hypoxia-induced angiogenesis by cigarette smoke exposure: impairment of the HIF-1alpha/VEGF pathway.

VEGF

hypoxia


Input: These findings extend the body of evidence implicating mutations in the ARS (component B) gene in Mal de Meleda.

ARS (component B

Mal de Meleda

ARS (component B

Mal de Meleda


Input: The effects of NO donors on the expression of proteins associated with PEM metabolism, including thymidylate synthase (TS), reduced folate carrier 1 (RFC1), folylpolyglutamate synthase (FPGS), γ-glutamyl hydrolase (GGH) and multidrug resistance-related protein (MRP) 5, and the effects of cyclic guanosine mono-phosphate (cGMP) signaling on these proteins were examined in A549 cells.

PEM

mono


Input: However, the role of Cd36 in blood pressure regulation remains controversial due to inconsistent blood pressure effects that were observed with transgenic expression of Cd36 on the SHR background.

blood pressure


Input: Lafora disease (progressive myoclonus epilepsy of Lafora type) is an autosomal recessive neurodegenerative disorder resulting from defects in the EPM2A gene.

Lafora disease

Lafora disease


Input: pcDNA3. 0 carrying murine IL-4 or IL-10 cDNA was encapsulated with LipofectAMINE 2000 and intraperitoneally injected into mice with TNBS-induced colitis.

colitis

colitis


Input: The mTORC1-inhibitor everolimus shows limited efficacy in treating patients with gastro-entero-pancreatic or pulmonary neuroendocrine tumors (NETs), and poor outcome in patients with malignant pheochromocytoma or hepatic carcinoma.

malignant pheochromocytoma


Input: To further assess the role of TR1 in the malignancy process, we used RNA interference technology to decrease its expression in mouse lung carcinoma (LLC1) cells.

malignancy


Input: AT1-R staining was found in macrophage-rich areas, and AT1-R mRNA was detected in plaque macrophages isolated with anti-CD14 immunobeads.

plaque


Input: The present study evaluates association between SPP1 polymorphisms and SLE in a large cohort of 1141 unrelated SLE patients [707 European-American (EA) and 434 African-American (AA)], and 2009 unrelated controls (1309 EA and 700 AA).

SLE

SLE


Input: VEGF synthesis in visceral adipose tissue is inefficient being not followed by angiogenesis to counterbalance tissue hypoxia.

VEGF

hypoxia


Input: VEGF-C might be involved in the deep lymphatic dissemination and progression of melanoma metastasis.

VEGF-C

melanoma

VEGF-C

melanoma


Input: Many of the genes upregulated in USPC were found to represent adhesion molecules, secreted proteins and oncogenes, such as L1 cell adhesion molecule, claudin-3 and claudin-4, kallikrein 6 (protease M) and kallikrein 10 (NES1), interleukin-6 and c-erbB2.

adhesion


Input: Other outcomes were very PTB, low-birthweight (LBW), very LBW, small for gestational age and perinatal mortality.

PTB

small for gestational age


Input: CRMP2B and ARPC5 may participate in CNS injury mediated by hypothyroidism by inducing neurite outgrowth inhibition and cytoskeletal protein disorganization.

hypothyroidism


Input: Clinically, NF1 is characterized by café-au-lait (CAL) spots, neurofibromas, freckling of the axillary or inguinal region, Lisch nodules, optic nerve glioma, and bone dysplasias.

CAL

freckling


Input: Renal carcinoma cells lacking wild-type pVHL were found to produce mRNAs encoding VEGF/VPF, the glucose transporter GLUT1, and the platelet-derived growth factor B chain under both normoxic and hypoxic conditions.

VPF

hypoxic


Input: Methylation status by using methylation-specific polymerase chain reaction (MS-PCR) and protein expression by using immunohistochemistry for p16 INK4A and MGMT genes were performed in cervical squamous intraepithelial neoplasms (CIN), invasive squamous cell carcinomas (SCC), adenocarcinomas and non-neoplastic cervices.

MGMT

non-neoplastic


Input: To determine the role of HPP1 in ulcerative colitis (UC)-associated carcinogenesis, the prevalence of HPP1 methylation was investigated in three different histological stages of UC-associated carcinogenesis (non-neoplastic UC colon, dysplasia, and carcinoma).

non-neoplastic


Input: These findings suggest miR-424 plays distinct roles in tumor progression, potentially facilitating earlier, but repressing later, stages of metastasis by regulating an EMT-MET axis.

EMT

tumor progression


Input: A total of 37 RER proteins (25 unique in arginine-induced, 6 unique in caerulein-induced and 6 common in both models of AP) showed significant changes during AP including translational regulators and digestive enzymes, whereas only mild changes were found in some ER chaperones.

RER

mild


Input: A mutation in the glycine-rich cornified envelope protein loricrin has recently been reported in Vohwinkel' s keratoderma (honeycomb keratoderma with pseudoainhum), in a pedigree amongst whom ichthyosis was also a feature.

envelope protein

ichthyosis


Input: In the present study, we investigated the promoter methylation status of FBLN-3 gene in non-small cell lung carcinoma (NSCLC) by methylation-specific PCR and analyzed its correlation with clinicopathological factors.

FBLN

non-small cell lung carcinoma


Input: Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.

MIM

insulin-dependent diabetes mellitus


Input: Moreover, in human atheroma cultures, TLR7 activation selectively suppressed the production of key proatherogenic factors such as monocyte chemoattractant protein-1 and tumor necrosis factor without affecting IL-10.

tumor necrosis factor

atheroma


Input: The aims of this study were to examine the differences in expression of E-cadherin, claudin 4, and ZO-1 proteins according to the pathological and clinical features of advanced gastric cancer.

gastric cancer


Input: MSC marker CD73 was expressed around the granulomas of ITB alone and was completely absent in the Crohn' s.

MSC

granulomas


Input: Finally, individuals with PH1 at the level of the AGXT genotype might remain asymptomatic and undiagnosed for many years.

AGXT

asymptomatic


Input: Chemerin induces insulin resistance in the skeletal muscle in vivo.

Chemerin

insulin resistance


Input: In this study, we show that microsatellite instability (MSI) in colorectal cancer cells deficient for a subset of the human mismatch repair (MMR) genes (hMLH1, hMSH2, and hMSH6), is markedly reduced during exposure to aspirin or sulindac [or Clinoril, which is chemically related to indomethacin (Indocin)].

MMR

microsatellite instability


Input: Recent studies have suggested that one of these proteins, the regulator of G-protein signaling 2 (RGS2), plays an important part in anxiety and/or aggressive behavior.

aggressive behavior


Input: However, our data suggest that IFN-alpha induces additional cytogenetic abnormalities even in the chronic phase through its immune-modulating effects and that these unusual cytogenetic abnormalities do not alter the history of CML.

IFN-alpha

cytogenetic abnormalities


Input: This review will discuss the role of MPO in tumour progression and provide an overview of its part in tumour metastasis and ulcer.

MPO

ulcer


Input: Importantly, we find that in response to beta-adrenergic receptor stimulation, Epac1 activates Ras and induces adult cardiomyocyte hypertrophy in a cAMP-dependent but protein kinase A-independent manner.

beta-adrenergic receptor

cardiomyocyte hypertrophy


Input: Analysis of cyclin dependent kinase activity following Adp27 infections showed decreased Cdk2 and cyclin B1-Cdc2 activity at lower viral doses when compared with AdWAF1.

infections


Input: The immunomodulatory effect of MDP-Ab immunoconjugate on peripheral blood dendritic cells (PBDCs) from children with acute lymphoblastic leukemia (ALL) exhibited upregulated expression of HLA-DR, co-stimulatory marker (CD80 and CD86) and maturity marker (CD83), increased cytokine secretion (interleukin-12, IL-12) and enhanced autostimulatory activity.

MDP

acute lymphoblastic leukemia


Input: Together, these data suggest that PTHrP expression and osteolysis in vivo in human breast cancer cells is driven at least in part by Gli2.

osteolysis


Input: In this study we examined the expression levels of COMT mRNA using quantitative RT-PCR in 60 post mortem cerebellum samples derived from individuals with schizophrenia, bipolar disorder, depression, and no history of psychopathology.

COMT

bipolar disorder, depression

COMT

bipolar disorder, depression


Input: To assess the role of elongin B/C, Rbx1 and HIF-1alpha in RCC tumorigenesis we (a) mapped the genes to chromosomes 8q (cen) (elongin C), 16p13. 3 (elongin B) and 22q11. 2 (Rbx1) by FISH, monochromosomal somatic cell hybrid panel screening and in silico GenBank homology searching; (b) determined the genomic organisation of elongin C (by direct sequencing of PAC clones), Rbx1 and elongin B (by GenBank homology searching); and (c) performed mutation analysis of exons comprising the coding regions of elongins B, C and Rbx1 and the oxygen-dependent degradation domain of HIF-1alpha by SSCP screening and direct sequencing in 35 sporadic clear cell RCC samples without VHL gene inactivation and in 13 individuals with familial non-VHL clear cell RCC.

elongin B

tumorigenesis


Input: DAB2, a predicted target gene of miR-106b, was inhibited by TGF-β1 partly through miR-106b and was involved in TGF-β1-induced cervical cancer cell migration.

cervical cancer


Input: Genome-wide significant interactions were detected in ARIC for systolic blood pressure between PLEKHA7 (a known GWAS locus for blood pressure) and GPR180 (which plays a role in vascular remodelling), and also for triglycerides as local interactions within the 11q23. 3 region (replicated significantly in NFBC1966), which notably harbours several loci (BUD13, ZNF259 and APOA5) contributing to triglyceride levels.

blood pressure


Input: Moreover, resveratrol and GPE also strongly activated nuclear factor-erythroid 2-related factor 2 (Nrf2) to attenuate oxidative stress and improve insulin sensitivity in the liver and muscle of CML-injected C57BL/6 mice and resulted in reduced blood glucose levels.

insulin sensitivity


Input: Tumor testing using microsatellite instability (MSI), immunohistochemistry (IHC) for mismatch-repair (MMR) protein expression and MLH1-methylation analysis, when required, was used to select LS-suspicious cases.

MMR

microsatellite instability


Input: Ghrelin is an upstream regulator of the orexigenic peptides NPY and AgRP and acts as a natural antagonist to leptin' s effects on NPY/AgRP-expressing neurons, resulting in an increase in feeding and body weight.

NPY

body weight


Input: Indeed, we observed a significant reduction of NMDA-induced field excitatory postsynaptic potential depression in the hippocampus of Tau mice together with a reduced phosphorylation of NR2B at the Y1472, known to be critical for NMDAR function.

depression

depression


Input: It has previously been demonstrated that susceptibility to pemphigus vulgaris is associated with human leukocyte antigen (HLA)-DR4 serologic specificity among Ashkenase Jews, and with DR4 as well as DR6 (DR14) in other ethnic groups.

pemphigus vulgaris


Input: In searching for candidate genes for bipolar disorder on chromosome 18q21, a novel gene homologous to NEDD4 (Neural precursor cells expressed developmentally down-regulated) was identified using exon trapping and cDNA cloning.

bipolar disorder

bipolar disorder


Input: We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls.

ATRN

skin color


Input: We have analyzed the somatic mutations in 89 cutaneous neurofibromas derived from three unrelated NF1 patients with high tumor burden, by loss of heterozygosity (LOH) analysis of the NF1, TP53, RB1, and CDKN2A genes, by assessing microsatellite instability (MSI), by direct sequencing of the NF1, TP53, and several mismatch repair (MMR) genes and by multiplex ligation-dependent probe amplification of the NF1 and TP53 genes.

MMR

microsatellite instability


Input: These novel transactive response DNA-binding protein 43 transgenic mice mimic several characteristics of human amyotrophic lateral sclerosis-frontotemporal lobar degeneration and they should provide valuable animal models for testing therapeutic approaches.

DNA-binding protein

amyotrophic lateral sclerosis


Input: The aim of our study was to analyze the methylation frequency of tumor suppressor genes, P14, P15, and P73, and a mismatch repair gene (O6MGMT) in HCV related chronic liver disease and HCC to identify candidate epigenetic biomarkers for HCC prediction.

chronic liver disease


Input: Taken together, these findings suggest that AST exerts anti-carcinogenic activity in colon cancer cells through modulation of mTOR signaling and downregulation of COX-2, which together reduce VEGF level in tumor cells that could potentially suppress angiogenesis.

AST

colon cancer


Input: Impaired MMR activity can lead to microsatellite instability (MSI) in tumor tissues.

MMR

microsatellite instability


Input: This study provides evidence that the TNF-α polymorphism at-308 and an atopic history impact the severity of irritation and recovery from exposure and response to treatment for common hand skin products in both chronic irritant hand dermatitis and normal skin.

TNF-α

atopic


Input: Thus, germ-line mutations of the RET gene may contribute either to developmental anomalies in HSCR or to inherited predisposition to cancer in MEN 2A.

RET

HSCR

RET

HSCR


Input: In this study the effect of overexpressing ADAM17 in cell migration, viability, adhesion and proliferation was comprehensively appraised in vitro.

adhesion


Input: We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III.

HPD

tyrosinemia type III

HPD

tyrosinemia type III


Input: Associations with canonical pathways previously shown to be involved in AD were also observed, such as dehydrogenases 1A (ADH1A), ADH7, aldehyde dehydrogenases 3B2 (ALDH3B2) and cytochrome P450 2A13.

cytochrome P450 2A13

AD

cytochrome P450 2A13

AD


Input: RACK1 predicted poor prognosis in ESCC, promoted tumor progression, and was involved in EMT of ESCC.

EMT

tumor progression


Input: Edaravone moderately suppressed the expression of VEGF mRNA and protein in astrocytes under hypoxia in time-and concentration-dependent manners.

VEGF

hypoxia


Input: We analyzed data from 451 pre-and early perimenopausal participants of the ancillary SWAN Mammographic Density study for whom we had complete information regarding mammographic density, genotypes, and covariates.

SWAN

mammographic density


Input: Drug-resistance mutations (DRAM) are frequently selected in patients with virological failure defined as viral load (pVL) above 500 copies/ml (c/mL), but few resistance data are available at low-level viremia (LLV).

DRAM

viremia


Input: To elucidate the role of SOX2 in gastric tumorigenesis, SOX2 transcriptional activity was blocked in AZ-521 cells.

tumorigenesis


Input: Melittin inhibits tumor cell metastasis by reducing cell motility and migration via the suppression of Rac1-dependent pathway, suggesting that melittin is a potential therapeutic agent for HCC.

HCC

HCC


Input: The present study investigated variation in the promoter region of the serotonin transporter gene (5-HTTLPR) as a moderator of the stress-aggression association at the transition to adulthood.

serotonin transporter

aggression


Input: The beta4 subunit was found to be significantly overexpressed in cancer specimens at both the protein and transcript levels.

cancer


Input: The frequencies of expression of human leukocyte antigen class I antigen and intercellular adhesion molecule 1 on the hepatocyte membrane of the asymptomatic carrier group were significantly less than those of the chronic hepatitis group (64% vs. 100% P < 0. 05, 29% vs. 71% P < 0. 05, respectively), although there was no significant difference in the serum HCV-RNA titer between the two groups (10 (6. 4 +/-1. 1) vs. 10 (6. 5 +/-0. 7) copies/mL).

intercellular adhesion molecule 1

asymptomatic


Input: EGFR somatic mutations in lung tumors: radon exposure and passive smoking in former-and never-smoking U. S. women.

EGFR

smoking


Input: After 6 weeks DOCA, Gas 6 (-/-) mice developed similar telemetric blood pressure elevations compared to wild-type mice but were protected from cardiac hypertrophy.

Gas 6

cardiac hypertrophy

Gas 6

cardiac hypertrophy


Input: Our study aimed to confirm the contribution of MYH9 and environmental factors to nonsyndromic orofacial cleft risk in western Han Chinese.

orofacial cleft


Input: CTGF protein is significantly increased in complicated compared with fibrous plaques and may enhance monocyte migration into atherosclerotic lesions, thus contributing to atherogenesis.

CTGF

atherogenesis


Input: Implementing this systematic approach, we: (i) discovered 177 putative SZ risk genes in brain, 28 of which map to linked chromosomal loci; (ii) delineated six biological processes and 12 molecular functions that may be particularly disrupted in the illness; (iii) identified 123 putative SZ biomarkers in blood, 6 of which (BTG1, GSK3A, HLA-DRB1, HNRPA3, SELENBP1, and SFRS1) had corresponding differential expression in brain; (iv) verified the differential expression of the strongest candidate SZ biomarker (SELENBP1) in blood; and (v) demonstrated neuronal and glial expression of SELENBP1 protein in brain.

SZ

SZ


Input: Urine albumin levels or microalbuminuria (albuminuria > or = 15 microg/min) did not differ by TGF-beta-1 genotypes, but both parameters were more frequent in ACE D/D homozygotes.

ACE

microalbuminuria


Input: Tissue samples were investigated for bcl-2 chromosomal translocation t (14; 18) by polymerase chain reaction (PCR) together with detection of bcl-2 protein expression by immunohistochemistry.

chromosomal translocation


Input: The cumulative findings from these experiments show that coexpression of the HRG ligand contributes to activation of ErbB-2/Erb-3 in mouse mammary tumor cells in an autocrine or paracrine fashion.

HRG

mammary tumor


Input: TDI is known to cause respiratory symptoms and diseases.

TDI

respiratory symptoms


Input: Here we identify mutations in one such element, a regulatory alternative exon of SNRPB as the cause of cerebro-costo-mandibular syndrome.

SNRPB

cerebro-costo-mandibular syndrome

SNRPB

cerebro-costo-mandibular syndrome


Input: To assess a role for SOX2 in tumorigenesis, a panel of NSCLC cell lines with activating EGFR mutations was assessed for SOX2 expression.

tumorigenesis


Input: We recruited 174 subjects hospitalized for HCC (84% males; mean age: 64 years) and 118 patients hospitalized for non-liver diseases in Brescia, northern Italy, as controls (94% males; mean age: 66 years).

HCC

liver diseases


Input: Furthermore, chemerin serum level positively correlated with blood pressure, body mass index, and serum insulin and was negatively correlated with serum eNOS.

chemerin

body mass index


Input: Among the 55 NCCAH patients, 54. 5% were homozygous for mild CYP21A2 mutations, 41. 8% were compound heterozygotes for one mild and one severe CYP21A2 gene mutations, and 3. 6% had two severe CYP21A2 gene mutations.

CYP21A2 gene

mild


Input: Gene expression of VEGF and hypoxia-inducible factor (HIF)-1alpha were studied in BRECs, with or without E2, under normoxia and hypoxia (1% O2).

VEGF

hypoxia


Input: To explore the possibility that VG5Q, and specifically E133K, is implicated in other mosaic overgrowth syndromes.

overgrowth


Input: In HCC cell lines, the AKT-mammalian target of rapamycin complex 1-ribosomal protein S6 pathway promoted lipogenesis via transcriptional and post-transcriptional mechanisms that included inhibition of fatty acid synthase ubiquitination by the USP2a de-ubiquitinase and disruption of the SREBP1 and SREBP2 degradation complexes.

ribosomal protein S6

HCC

ribosomal protein S6

HCC


Input: Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene.

luteinizing hormone beta-subunit

Hypogonadism

luteinizing hormone beta-subunit

Hypogonadism


Input: We show that aspects of the phenotype such as motor neuron degeneration relate precisely to the relative expression of eEF1A1 and eEF1A2, whereas the immune system abnormalities are likely to result from a stress response.

abnormalities


Input: In addition, a missense mutation in the endothelin-B receptor (EDNRB) gene on chromosome 13q22 was found in an inbred Mennonite kindred affected by HSCR and associated abnormalities, demonstrating the involvement of EDNRB in HSCR pathogenesis.

EDNRB

abnormalities


Input: The genetic mutation resulting in osteogenesis imperfecta (OI) type V was recently characterised as a single point mutation (c.-14C > T) in the 5' untranslated region (UTR) of IFITM5, a gene encoding a transmembrane protein with expression restricted to skeletal tissue.

UTR

osteogenesis imperfecta


Input: The patient had sensorineural hearing loss with evidence of bilateral hypoplastic cochleas on imaging, another feature which has been reported in the previous cases of WABS.

WABS

sensorineural hearing loss


Input: During hypoxia, HIF-1alpha acts as the primary transcription factor functioning to activate multiple target genes, including vascular endothelial growth factor (VEGF).

VEGF

hypoxia


Input: The induction of VEGF by IGF-II was additively increased by hypoxia.

VEGF

hypoxia


Input: Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: Since IAPP may cause insulin resistance, its overproduction may contribute to the diabetes that occurs in these patients.

IAPP

insulin resistance


Input: CFH plays a role in inflammation, which is causal to both diseases and both are highly prevalent in old age.

CFH

inflammation


Input: This study compared the MCV of 522 cancer-free Japanese men with his risk of ESCC as defined using drinking, smoking, dietary habits and aldehyde dehydrogenase-2 (ALDH2) genotype in a previous case-control study of ESCC involving them as control subjects.

smoking


Input: Immunohistochemical staining for 8-oxoG and OGG1 were performed in HCC and non-neoplastic tissues.

HCC

non-neoplastic


Input: It was suggested that HCPT could inhibit the expression of HIF-1alpha protein and downstream VEGF gene in hypoxic SiHa cells in a dose-dependent manner, and the inhibitory effect was not related with HCPT cytotoxicity.

VEGF

hypoxic


Input: We carried out a case-control association community based study, genotyping 12 polymorphisms of TLR2, TLR4, TLR6 and TLR9 genes in 90 patients with confirmed pulmonary TB and 90 unrelated exposed but asymptomatic household contacts.

asymptomatic


Input: Using a combination of human B lymphoid leukemia cells and mouse models, we now show that AID expression can be harnessed for antileukemic effect, after inhibition of the RAD51 homologous recombination (HR) factor with 4, 4'-diisothiocyanatostilbene-2-2'-disulfonic acid (DIDS).

AID

lymphoid leukemia

AID

lymphoid leukemia


Input: Nitric oxide causes anoikis through attenuation of E-cadherin and activation of caspase-3 in human gastric carcinoma AZ-521 cells infected with Mycoplasma hyorhinis.

Mycoplasma

Mycoplasma


Input: Through this translocation, one of the SYT genes, SYT4 on chromosome 18, is fused to one of the SSX genes on chromosome X. SYT4-SSX1 is the most common fusion subtype, present in approximately two thirds of the cases, followed by SYT4-SSX2 and, very rarely, SYT4-SSX4.

translocation


Input: This study found that mutations could be identified in about 85% CCD patients, even if only the C-terminal-encoding region of RYR1 was screened.

CCD

CCD


Input: These data indicate that the increments in food intake in hyperthyroidism could be mediated, at least in some extent, by a decreased expression, at the paraventricular nucleus of the hypothalamus, of the anorexigenic cocaine-and amphetamine-regulated transcript peptides.

cocaine-and amphetamine-regulated transcript

hyperthyroidism

cocaine-and amphetamine-regulated transcript

hyperthyroidism


Input: The coding region of TNFR1 was sequenced in 2 individuals with TRAPS (the propositus and her grandfather) and in 3 clinically unaffected relatives.

TRAPS

TRAPS


Input: Filamin A mutations have been reported in all families and in approximately 20% of sporadic patients.

Filamin A

sporadic


Input: Moreover, knockdown of Ang1 in EVI1 (high) leukemia cells promoted cell cycle progression and down-regulated the CDK inhibitor p18 (INK4c).

leukemia


Input: Similarly, both the BRCA1 and BRCA2 family status (P ≤ 0. 03) and the IGFBP-3 diplotypes GCA/GCG (P = 0. 007) and GCG/CCG (P = 0. 002) were significantly associated with lower IGFBP-3 levels, adjusted for age, weight, OC use, and other IGFBP diplotypes.

GCG

weight


Input: In GBM primary cell cultures, tumor cells with nuclear localization of N-CoR demonstrate an undifferentiated phenotype, but are subject to astroglial differentiation upon exposure to agents promoting phosphorylation of N-CoR and its subsequent translocation to the cytoplasm.

N-CoR

translocation


Input: In our immunohistochemical analysis, performed on 89 primary and metastatic central nervous system tumors, we found that CRX is strongly expressed by normal pineal tissue as well as by pineal parenchymal tumors.

CRX

central nervous system tumors


Input: We investigated polymorphisms of the histamine H1 (HRH1) and muscarinic acetylcholine receptor M3 (CHRM3) receptor genes for an association with body mass index (BMI) and glycated hemoglobin (HbA1c).

body mass index


Input: The protein ENH is a cytoplasmic sequestration factor for Id2 in normal and tumor cells from the nervous system.

nervous system


Input: It demonstrated that apoM expression was significantly positively correlated to the placental weight, fetal birth weight, pregestational body mass index (BMI), weight gain during pregnancy, maternal weight, maternal BMI and the mRNA levels of IGF-IR as well as IGF-IIR.

IGF

birth weight


Input: We conclude that genetic variation in 5HTR2C may be associated with HPA axis activation and stimulated by emotional stress, and also with both psychological and physiological endophenotypes that increase the risk of cardiovascular disease and type-2 diabetes.

HPA

emotional stress


Input: In classic interstitial cystitis samples nonulcerative portions demonstrated a significant increase in the expression of TRPA1, TRPM2 and 8, TRPV1 and 2, ASIC1, NGF and CXCL9, and a significant decrease in UPK3A and TRPV4.

interstitial cystitis


Input: Analysis of human corneal scar tissue and transforming growth factor (TGF)-β1-induced corneal myofibroblasts showed a 13-and 4-fold increase of miR-145, respectively, compared with healthy cornea and nonstimulated fibroblasts (p < 0. 01).

corneal scar


Input: However, combined analysis of the angiotensin I-converting enzyme gene I/D polymorphism and angiotensinogen gene M235T polymorphism genotypes suggested an association with left ventricular mass (g m (-2)) (P = 0. 023).

angiotensin I-converting enzyme

left ventricular mass


Input: Specificity experiments showed the ability of the rbp2 qPCR assay to detect low-levels of P. ovale in the presence of additional malaria parasite species, including P. falciparum, P. vivax, and P. malariae.

malaria


Input: Hyperparathyroidism (HPT) is a common endocrine disorder with incompletely understood etiology, characterized by enlarged hyperactive parathyroid glands and increased serum concentrations of parathyroid hormone and ionized calcium.

HPT

hyperactive


Input: In this study, we carried out the first screening of GLE1 in ALS patients (173 familial and 760 sporadic) and identified 2 deleterious mutations (1 splice site and 1 nonsense mutation) and 1 missense mutation.

sporadic


Input: Five inborn errors affecting folate transport and metabolism have been well studied: hereditary folate malabsorption, caused by mutations in the gene encoding the proton-coupled folate transporter (SLC46A1); glutamate formiminotransferase deficiency, caused by mutations in the FTCD gene; methylenetetrahydrofolate reductase deficiency, caused by mutations in the MTHFR gene; and functional methionine synthase deficiency, either as the result of mutations affecting methionine synthase itself (cblG, caused by mutations in the MTR gene) or affecting the accessory protein methionine synthase reductase (cblE, caused by mutations in the MTRR gene).

MTHFR gene

glutamate formiminotransferase deficiency


Input: Here we show that melanoma cells favor the expression of MITF mRNA with shorter 3'-UTR.

UTR

melanoma


Input: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1).

SWI

emphysema


Input: Up-regulated expression of MICA and proinflammatory cytokines in skin biopsies from patients with seborrhoeic dermatitis.

MICA

seborrhoeic dermatitis


Input: The purpose of our study was to evaluate the expression and correlation of heparanase and VEGF in hypoxia-induced retinal neovascularization.

VEGF

hypoxia


Input: Finally, PAFR antagonist PCA4248 inhibited the development of A375SM lung metastasis in nude mice.

PAFR

lung metastasis


Input: The Ct-OATP1B3 functional expression in colon cancer cells was then examined by Western blotting and transport analyses.

colon cancer

colon cancer


Input: Involvement of NMDAR2A tyrosine phosphorylation in depression-related behaviour.

depression

depression


Input: A novel stable polyalanine [poly (A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly (A)-harbouring transcription factors depends on a critical repeat length?

hand-foot-genital syndrome

hand-foot-genital syndrome


Input: The incidence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC) and hyperparathyroidism (HPT) in the 37 MEN2A patients was 91. 9, 56. 8 and 10. 8%, respectively; the onset of MTC in MEN2A patients was earlier than that of PCC and HPT.

HPT

pheochromocytoma


Input: Our results show a loss of anxiety-related behavior and a loss of aversion in the CPA model in beta2 KO mice, whereas alpha7 and alpha5 KO mice displayed a loss of nicotine withdrawal-induced hyperalgesia and a reduction in somatic signs, respectively.

nicotine withdrawal


Input: This study was conducted to determine the frequency of genetic instability [defined as microsatellite instability (MSI)] and to evaluate the sensitivity/specificity of immunohistochemistry in predicting the deficiency in MMR genes in renal cortical tumors.

MMR

microsatellite instability


Input: Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.

cleft lip

cleft lip


Input: We found no correlation between LRP levels and either presence of the disease or cognitive decline.

LRP

cognitive decline


Input: We show that kindlin-3 regulates c-Myc protein expression in the human chronic myeloid leukemia cell line K562.

chronic myeloid leukemia


Input: Chloride-proton exchange by the lysosomal anion transporter ClC-7/Ostm1 is of pivotal importance for the physiology of lysosomes and bone resorption.

bone resorption


Input: Similarly, inhibition of smoke-induced MUC1-N glycosylation using adenoviral shRNA directed against N-acetyl-galactosaminyl transferase-6 (GALNT6, an enzyme that controls the initiating step of O-glycosylation) successfully suppressed MUC1-C/p120ctn interaction, prevented E-cad degradation and maintained cellular polarity in response to smoke.

cad


Input: By activating specific receptors (likely AM2) and the PI3K/Akt/GSK3beta signaling pathway, AM could play a significant role in long-lasting heat hypersensitivity and inflammatory heat hyperalgesia.

hypersensitivity


Input: To examine the involvement of DcR3 in the immune evasions of virus-associated lymphoma, we analyzed the amplification and expression of DcR3, using dot blot and in situ hybridization (ISH), in 45 cases, which included 17 cases with Epstein-Barr virus (EBV)-associated lymphoma (seven pyothorax-associated B-cell lymphomas (PAL); ten natural killer lymphoma (NKL)), seven cases with adult T-cell leukemia lymphoma (ATLL), 13 Hodgkin' s disease (eight EBV-associated cases; five non-EBV-associated cases), and eight control cases (three reactive lymphadenopathy; five non-EBV-associated-B-cell lymphoma).

pyothorax


Input: The presence of dyskinetic movements in individuals with acquired microcephaly could be a manifestation of periventricular nodular heterotopia due to ARFGEF2 mutation.

periventricular nodular heterotopia

periventricular nodular heterotopia


Input: We show that melanoma cells cross-present, in an alpha v beta3-dependent manner, an antigen derived from secreted matrix metalloproteinase-2 (MMP-2) to human leukocyte antigen A * 0201-restricted T cells.

melanoma


Input: Several mutations in a gene encoding a glucose transporter, GLUT2, have recently been reported in patients with FBS.

FBS

FBS


Input: It seems therefore, that the development of oral squamous cell carcinoma leads to polarization of cytokine gene expression that is skewed towards the Th1-like response in the early stage.

squamous cell carcinoma


Input: CONCLUSION: The IL-32β-VEGF-STAT3 pathway represents an additional pathway that mediates the migration and invasion of breast cancer cells under the conditions of normoxia and hypoxia.

VEGF

hypoxia


Input: The TFG sequence is fused to the 3' end of NTRK1, generating the TRK-T3 fusion transcript found in papillary thyroid carcinoma.

TFG

papillary thyroid carcinoma

TFG

papillary thyroid carcinoma


Input: In conclusion, SLC7A10 had no apparent degree of association with schizophrenia as a candidate susceptibility gene in the disease per se.

schizophrenia

schizophrenia


Input: Immunochemical staining of two glioma cell lines, U251 and U87, indicated intrinsic differences in JMJD3 expression levels that were reflected in changes in cell phenotype and variations associated with cellular senescence, including senescence-associated β-galactosidase (SA-β-gal) activity and the senescence-associated secretory phenotype (SASP).

glioma


Input: Since the haplotype of the minor alleles PLIN1-4, PLIN5-7 and PLIN6, was related to body-weight regulation at a lower level of body-weight in the men as well in the women we conclude that the PLIN1-4, 6, and 5-7 locus appears as a genetic influencer of obesity risk in humans.

weight


Input: We found that both clarithromycin and dexamethasone up-regulated the production of anti-inflammatory mediators (Clara cell 10-kDa protein and interleukin (IL)-10), whereas down-regulated the production of Th2 response and eosinophilia promoting molecules (thymic stromal lymphopoietin, IL-25, IL-33, CD80, CD86, OX40 ligand, programmed cell death ligand 1, CCL17, CCL22, CCL11, CCL5, IL-5, IL-13, and eosinophilic cationic protein) and Th1 response and neutrophilia promoting molecules (CXCL8, CXCL5, CXCL10, CXCL9, interferon-γ, and IL-12), from sinonasal mucosa from distinct phenotypic CRS.

neutrophilia


Input: The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor.

nerve growth factor receptor

sensory disorder


Input: Mammary tumors in mice conditionally mutant for Brca1 exhibit gross genomic instability and centrosome amplification yet display a recurring distribution of genomic imbalances that is similar to human breast cancer.

genomic instability


Input: Although the biophysical models and biochemical signaling pathways behind cell electrotaxis have been investigated in numerous normal cells and cancer cells, the molecular signaling mechanisms in CL1 lung adenocarcinoma cells have not been identified.

lung adenocarcinoma


Input: Moreover, the frequency of the Asn386Ser allele that contained Ser386 in glioma patients was not statistically different from its frequency in individuals without disease, and no significant association was observed between the PCAF polymorphisms and the presence or absence of p53 mutations in the tumors.

PCAF

glioma


Input: Here, we performed massively parallel sequencing and exonic CNV screening of 12 isoprenoid genes in 134 index PK patients (61 familial and 73 sporadic) and identified causal mutations in three novel genes (PMVK, MVD, and FDPS) in addition to MVK in the mevalonate pathway.

FDPS

sporadic


Input: Multifactor dimensionality reduction (MDR) analysis revealed two-way and three-way interactions between CD3EAP rs735482 and smoking and between NFKB1 rs28362491, PPP1R13L rs1970764, and smoking.

smoking


Input: TCL1B is overexpressed in ERalpha-positive compared with ERalpha-negative breast cancers and in lung metastasis-free breast cancers.

metastasis

metastasis


Input: We found that hypoxia, but not UVR, up-regulates VEGF mRNA expression and protein release in these melanoma cells.

VEGF

hypoxia


Input: Clinically, calf muscle atrophy and pes cavus are features that are highly suggestive of DNM2-CNM among all CNMs.

muscle atrophy


Input: In addition to uric acid, XOR products may comprise reactive oxygen and nitrogen species that have many biologic effects, including inflammation, endothelial dysfunction, and cytotoxicity, as well as mutagenesis and induction of proliferation.

XOR

inflammation


Input: HLA-DR1 (46%) and DR6 (20%) seemed more common in ulcerative colitis than in controls.

ulcerative colitis


Input: Integration of the 2B4 endodomain into T-cell receptor zeta chimeric receptors significantly enhanced all aspects of the NK cell activation response to antigen-expressing leukemia or neuroblastoma cells, including CD25 up-regulation, secretion of IFN-gamma and tumor necrosis factor-alpha, release of cytolytic granules, and growth inhibition, and overcame NK cell resistance of autologous leukemia cells while maintaining antigen specificity.

neuroblastoma


Input: In total, in 13 patients with hypochromia and inclusion bodies (IBs) the α-globin gene cluster was analyzed and in 13 patients with increased fetal hemoglobin levels with or without hypochromia the β-globin gene cluster was examined.

β-globin

hypochromia


Input: However, inhibition of the expression of VEGF, but not of FGF-2, affects also vessel maturation and functionality, leading to tumor hypoxia and necrosis.

VEGF

necrosis


Input: Linkage disequilibrium between the polymorphism and ischaemic heart disease was tested using the combined transmission disequilibrium test (TDT)/sib-TDT (cTDT) and pedigree disequilibrium test (PDT).

TDT

ischaemic heart disease


Input: Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.

ANKH

mild


Input: Stable re-expression of functional CXCL12 in ligand null cells increased orthotopic primary tumor growth in the mammary fat-pad model of tumorigenesis.

tumorigenesis


Input: There is evidence of a prominent role of Src in tumor progression-related events such as the epithelial-mesenchymal transition (EMT) and the development of metastasis.

EMT

tumor progression


Input: Both FOXE1 and NKX2-1 were associated with the increased risk of sporadic Japanese PTC.

PTC

PTC


Input: In this group of infantile NPHP patients, mutations of NPHP3 were prevalent, whereas mutation of NPHP2 was absent.

NPHP

NPHP


Input: Of particular interest is therapy for KS, breast cancer, melanoma, and other cancers in which integrin alpha (v) beta3 is expressed on both angiogenic endothelial cells and tumor cells, which would allow a dual antiangiogenic and antitumor strike with a single drug.

melanoma


Input: Recently, GRP has been implicated in several psychiatric conditions, in the maintenance of circadian rhythm, in spinal transmission of the itch sensation, and in inflammation and wound repair.

GRP

circadian rhythm


Input: We identified three novel and one previously described GJA1 mutation in two large ODDD families and two sporadic ODDD cases.

sporadic


Input: Two common polymorphisms (LTalphaNcoI and TNFalpha-308) in the TNF gene complex were studied in 600 subjects from 131 Italian families with atopic asthmatic children.

TNF gene

atopic


Input: A goiter-developmental model incorporating genetic (MIF SNP rs755622) and environmental risk factors (gender, radioiodine treatment, thyroid gland surgery and vitiligo) significantly increased the prediction accuracy.

MIF

goiter


Input: Serum hTERT mRNA showed higher values in patients with HCC than those with chronic liver diseases.

HCC

liver diseases


Input: Spectral karyotyping (SKY) analysis modified this interpretation to a 3-way translocation involving chromosomes 8, 17, and 21 and identified a masked type of variant t (8; 21) (q22; q22) translocation.

SKY

translocation


Input: Schwannomatosis (MIM 162091) is a condition predisposing to the development of central and peripheral schwannomas; most cases are sporadic without a clear family history but a few families with a clear autosomal dominant pattern of transmission have been described.

MIM

schwannomas


Input: Up-regulation of Bcl-xl by hepatocyte growth factor in human mesothelioma cells involves ETS transcription factors.

Bcl-xl

mesothelioma


Input: Our results confirm that HANAC syndrome is a distinct clinical entity within the COL4A1-related disorders, which is characterized by systemic involvement and usually asymptomatic brain disease.

HANAC syndrome

HANAC syndrome


Input: Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.

globozoospermia

globozoospermia


Input: Here we show that Mtmr13 loss leads to axonal degeneration in sciatic nerves of older mice.

axonal degeneration


Input: Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds.

ATP-binding cassette 1

tangier disease

ATP-binding cassette 1

tangier disease


Input: In addition, this SNP was significantly and positively associated with increased body mass index (BMI), BMI z-score, weight, waist circumference, plasma γ-glutamyl transpeptidase and plasma active plasminogen activator inhibitor 1.

plasminogen activator inhibitor 1

weight


Input: Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and acanthocytosis that is caused by mutations in the VPS13A gene.

VPS13A gene

neurodegeneration


Input: Recently, exercise testing has been shown to uncover epsilon waves in asymptomatic patients carrying mutations in the PKP2 gene.

PKP2 gene

asymptomatic


Input: Several LAAs are expressed in CML and therefore are candidate structures for specific immunotherapies: bcr-abl (100%), G250 (24%), hTERT (53%), MPP11 (91%), NEWREN60 (94%), PRAME (62%), Proteinase3 (71%), RHAMM/CD168 (83%), and WT1 (53%), but not BAGE, MAGE-A1, SSX2, or NY-ESO-1.

CML

CML


Input: This gene fusion is caused by tandem duplication on 17q23 and appears to be an indicator of local genomic instability altering the expression of oncogenic components such as MIR21 and RPS6KB1.

genomic instability


Input: Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.

microphthalmia with linear skin defects syndrome

microphthalmia with linear skin defects syndrome


Input: In conclusion, in vitro most pancreatic ductal carcinomas show a distinct VEGF related angiogenic potential, as demonstrated by 2-and 3-D endothelial cell proliferation, which may be promoted by severe hypoxia.

VEGF

hypoxia


Input: In the NEWMOOD cohort polymorphisms of the genes of the serotonin transporter, 5-HT1A, 5-HT1B and 5-HT2A and endocannabinoid CB1 receptors, tryptophan hydroxylase, CREB1, BDNF and GIRK provide evidence for the involvement of these genes in the development of depression.

depression

depression


Input: These data suggest that the suppressive effect of PGDS on the lung injury could be partly mediated by edema formation and inhibition of genes involved in the fibrotic change.

PGDS

edema


Input: PKR-mediated apoptosis in CFS individuals may contribute to the pathogenesis and the fatigue symptomatology associated with CFS.

PKR

fatigue


Input: The expression of VEGF and Glut1, which are known HIF-dependent genes, is also strongly induced under hypoxic conditions in gastric and pancreatic cancer cell lines.

VEGF

hypoxic


Input: Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB.

CHKB

Proximal myopathy with focal depletion of mitochondria

CHKB

Proximal myopathy with focal depletion of mitochondria


Input: Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann' s thrombasthenia.

GPIIb

Glanzmann' s thrombasthenia

GPIIb

Glanzmann' s thrombasthenia


Input: Because AMPK is implicated in myocardial ischemia-reperfusion (I-R) injury, we reasoned that CRBN might play a role in the pathology of myocardial I-R through regulation of AMPK activity.

CRBN

myocardial ischemia


Input: Two AIM cases (5%) were negative for p16 and positive for Ki-67 in the area adjacent to an ulcer, representing regeneration.

AIM

ulcer


Input: Our objective was to test whether increased lipolysis and FFA levels induced by insulin withdrawal are accompanied by increased adipose tissue (AT) contents of adipose triglyceride lipase (ATGL) and/or altered intracellular ATGL regulation.

ATGL

increased adipose tissue


Input: Hemangioblastomas are highly vascular tumors of the central nervous system that overexpress the hypoxia-inducible gene, vascular endothelial growth factor (VEGF), as a consequence of mutational inactivation of the von Hippel-Lindau tumor suppressor gene (VHL).

VEGF

hypoxia


Input: We further show that transgenic mice overexpressing the RCAN1-1L protein exhibit accumulation of hyperphosphorylated tau protein (AT8 antibody), an early precursor to the formation of neurofibrillary tangles and neurodegeneration of the kind seen in Alzheimer disease.

neurodegeneration


Input: Integrin chains, in particular beta4, can promote invasion in other cancers.

cancers


Input: In investigating genotype-phenotype correlations, we screened five Japanese families with PMD for PLP gene mutations and compared their clinical manifestations.

PLP

PMD

PLP

PMD


Input: To understand the role of telomere dynamics in the development of hepatocellular carcinoma (HCC), we examined the length of terminal restriction fragment (TRF), as an indicator for telomere length, in HCC and surrounding tissues with chronic active hepatitis (CAH) or liver cirrhosis (LC).

TRF

chronic active hepatitis


Input: This study was conducted to determine the prognostic significance of the human papillomavirus (HPV) genotype using the HPV DNA chip (HDC) test and the HPV viral load by the hybrid capture II assay (HC2) in FIGO stage IB-IIA cervical cancer undergoing radical hysterectomy.

viral load