Input: The chemoresistant glioma U87/Pt cells were twofold more sensitive to STI571 growth-inhibitory effects than the chemosensitive U87 cells, and two-to threefold more sensitive than five unrelated glioma cell lines.

glioma


Input: We have shown that a particular sulfation pattern mediated by the expression of carbohydrate (chondroitin 4) sulfotransferase-11 (CHST11) correlates with P-selectin binding and aggressiveness of human breast cancer cell lines.

P-selectin

aggressiveness


Input: Upon pharmacological treatment with demethylating agent 5-aza-2'-deoxycytidine or histone deacetylase inhibitor trichostatin A, T-cadherin promoter hypermethylation and/or histone deacetylation was frequently observed in HCC samples and cell lines.

T-cadherin

HCC

T-cadherin

HCC


Input: However, neither study assessed the impact of the recurrent activation of SOX2 in advanced primary tumors nor how SOX2 may mechanistically participate to tumor progression and aggressiveness.

aggressiveness


Input: Patients with type 1 diabetes (a TH1 disease) have been reported to be at a lower risk of developing asthma (a TH2 disease).

asthma


Input: We describe one case of recurrent early pregnancy loss with HHcy caused by B12 deficiency.

recurrent early pregnancy loss


Input: STUDY DESIGN: We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women.

CHKA

endometriosis


Input: The mean values of hemoglobin (Hb) concentration, packed cell volume (PCV), mean cell hemoglobin (MCH) and mean cell volume (MCV) were significantly lower than normal controls but the mean cell hemoglobin concentration (MCHC) was the same as controls.

MCH

mean cell volume


Input: Disease progression is associated with variation in AAT, and low AAT levels promote atherogenesis.

AAT

atherogenesis


Input: TRPM4 mutations account for about 6% of BrS.

BrS

BrS


Input: In HCC and CCC ALR mRNA expression was also significantly enhanced compared with normal liver tissue, but expression levels did not differ from the matching non-neoplastic tissue in the same patient.

HCC

non-neoplastic


Input: Disruption of Rab13-mediated trafficking dramatically limits the invasive behavior of epithelial cells in vitro and the growth and migration of highly invasive cancer cells in vivo.

invasive cancer


Input: The aim of the present study was to evaluate AIT-mediated anti-oxidation by focusing on anti-oxidase and mitochondrial biogenesis in rats after myocardial infarction (MI).

AIT

myocardial infarction


Input: SIRT6 mRNA and protein expression were significantly lower in fetal membranes after spontaneous preterm labor.

preterm labor


Input: Is predisposition to pemphigus vulgaris in Jewish patients mediated by HLA-Dw10 and DR4?

pemphigus vulgaris


Input: Furthermore, TCN prevented hypoxia-induced expression of HIF-1 target genes for vascular endothelial growth factor (VEGF) and erythropoietin.

VEGF

hypoxia


Input: We show that the translocation t (12; 16) (q13: p11) in malignant myxoid liposarcoma can be a fusion of the CHOP dominant negative transcription factor gene with a novel gene, FUS, which can result in fusion of the FUS glycine-rich protein with the whole CHOP coding region.

myxoid liposarcoma


Input: MRI confirmed the diagnosis of isolated atrophic bilateral optic neuropathy.

MRI

optic neuropathy


Input: An increased level of interleukin-6 (IL-6) in the PF of patients with endometriosis suppresses NK cell cytolytic activity by down-regulating cytolytic granule components, such as granzyme B and perforin, through the modulation of Src homology region 2-containing protein tyrosine phosphatase-2 (SHP-2) expression.

endometriosis


Input: Mesenchyme-specific Prx-Cre-driven inactivation of Porcn produces FDH-like limb defects, while ectodermal Krt14-Cre-driven inactivation produces thin skin, alopecia, and abnormal dentition.

alopecia


Input: Translocation t (6; 9) (p22. 3; q34) in myelodysplastic syndrome--refractory anemia with excess blasts.

refractory anemia with excess blasts


Input: Given an EPAS1 as a potent activator of the VEGF gene, these findings will provide a novel insight into the mechanisms underlying the enhancement of growth property of EPAS1-expressing tumor cells under the hypoxic environment.

VEGF

hypoxic


Input: A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

IHH

brachydactyly type A1

IHH

brachydactyly type A1


Input: ErbB3 binding protein 1 (EBP1) has been recently reported to function as a tumor suppressor in the progression of multiple cancers, including breast cancer, prostate cancer, salivary adenoid cystic carcinoma (ACC), and oral squamous cell carcinoma (OSCC).

squamous cell carcinoma


Input: We investigated the associations of three variants (rs2138533, rs11887092, and rs1800255) in the COL3A1 gene with stroke recurrence and prognosis in 1, 544 patients with three subtypes of stroke: lacunar infarction (n = 442), atherothrombotic infarction (n = 670), and hemorrhage (n = 432).

COL3A1 gene

hemorrhage


Input: MT5-MMP emerges as a new pro-amyloidogenic regulator of APP metabolism, whose deficiency alleviates amyloid pathology, neuroinflammation and cognitive decline.

amyloid


Input: Risk factors of hepatitis C virus-related liver cirrhosis in young adults: positive family history of liver disease and transporter associated with antigen processing 2 (TAP2) * 0201 Allele.

liver cirrhosis


Input: Here we report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene.

myoclonic jerks

myoclonic jerks


Input: The rNDV-18HL selectively replicated in orthotopic HCC xenografts leading to cHAb18 expression in situ, which induced the tumor necrosis, reduced the intrahepatic metastasis, and prolonged the survival in mice.

HCC

tumor necrosis


Input: These results provide new evidence that ARHGEF11 may constitute a risk factor for schizophrenia.

schizophrenia

schizophrenia


Input: We found a significant correlation between lung cancer in smokers and the expression of a human gene, D40, predominantly expressed in testis and cancers.

lung cancer


Input: Therefore, we characterized adiposity and metabolic phenotypes in adult male C57BL/6J mice fed differing levels of dietary fat (10, 45, and 60% of energy) for 12 wk, concurrent with determinations of WAT inflammation markers and mRNA expression of leukocyte-derived integrins (CD11b, CD11c, CD11d) involved in macrophage extravasation and tissue macrophage homing/retention.

inflammation


Input: These results support the view that erythropoietin counteracts the effects of indometacin in inducing gastric ulcer and could be used as a an antiulcer compound.

erythropoietin

gastric ulcer

erythropoietin

gastric ulcer


Input: Further surface markers of monocytes found to be associated with cardiovascular diseases are CD18, CD11b, CXCR1, CD36 and STAB1.

cardiovascular diseases


Input: Regulation of a Notch3-Hes1 pathway and protective effect by a tocopherol-omega alkanol chain derivative in muscle atrophy.

muscle atrophy


Input: The aim of this study is to investigate the staining pattern of mIDH1R132H, an antibody specific to mutant IDH1 protein, in primary brain tumors and non-neoplastic systemic organs.

non-neoplastic


Input: Importantly, we found anti-IL-17 treatment can rescue STAT1 deficient animals from developing exacerbated metastasis to the lungs which could be important for immunotherapies for immunocompromised breast cancer patients.

metastasis

metastasis


Input: The p40 subunit of IL-12 (IL-12p40), but not the heterodimeric form IL-12p70, is secreted during the development of silica-induced lung fibrosis in C57BL/6 mice.

lung fibrosis


Input: In addition, CXCL14 methylation in sputum from asymptomatic early-stage lung cancer cases was associated with a 2. 9-fold elevated risk for this disease compared with controls, substantiating its potential as a biomarker for early detection of lung cancer.

lung cancer

lung cancer


Input: The association of HDL-C with CETP genotype was found to be independent of smoking or alcohol consumption.

CETP

alcohol consumption


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

ovarian cancer

ovarian cancer


Input: Down-regulation of TIMP3, PLAB, IGFBP3 and up-regulation of CCNB1 were observed in choriocarcinoma cells compared to placental trophoblasts.

choriocarcinoma


Input: The existence of a 196-bp allele has proved to result in a low plasma IGF-I level, a small head and chest circumference (p < 0. 05) and no significant for premature birth, short-birth height and low-birth weight.

IGF-I

birth weight


Input: The lipid profile, flow mediated dilation (FMD), intima media-thickness (IMT), fibrinogen, hs-CRP, TNF-α, urine 8-iso-PGF2α, and PON1 activity were evaluated in definite time points.

dilation


Input: Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2).

height


Input: As BCL2-IGH translocation represents an early step of the malignant process, we evaluated the occurrence and molecular characteristics of BCL2-IGH translocation in 56 individuals occupationally exposed to pesticides in open field farming They were selected from a representative cohort of farmers with a well-defined assessment of pesticide exposure taking into account potential confounding factors, smoking, sunlight, and age.

translocation


Input: We report here that the breakpoints in four translocation patients do not interrupt the coding sequence of the TWIST gene and thus most likely act through a positional effect.

TWIST

translocation


Input: The PNPLA3 SNP rs738409 G allele was associated with risk of mildly elevated transaminases in GD independent of a lifestyle intervention and despite a significant reduction in insulin resistance and risk of macrosomic offspring.

insulin resistance


Input: The effects of microinjection bilaterally into CA3 area of a PPARγ agonist, rosiglitazone or a PPARγ antagonist, GW9662 on UCP2 expression, induced superoxide anion (O (· 2) (-)) production, oxidized protein level, mitochondrial respiratory chain enzyme activities, translocation of Bcl-2, Bax and cytochrome c, and DNA fragmentation in bilateral CA3 subfields were examined.

translocation


Input: The tyrosine kinase receptor anaplastic lymphoma kinase (ALK) and its ligand, the growth factor pleiotrophin (PTN), are highly expressed during the development of the nervous system and have been implicated in the malignant progression of different tumor types.

tyrosine kinase receptor

nervous system


Input: We designed mutation screening of exon 5 of CHRNA4, exon 5 of CHRNB2, and exon 6 of CHRNA2 in a group of 56 Chinese sporadic NFLE cases.

sporadic


Input: Smooth muscle cell (SMC) migration and proliferation are important in the development of intimal hyperplasia, the major cause of vein graft failure.

SMC

intimal hyperplasia


Input: Therefore, we considered that the new brief tonic seizures, which appeared only during sleep in the course of ACTH therapy, were ACTH-induced seizures.

ACTH

seizures

ACTH

seizures


Input: Upregulation of mRNAs of osteoclastogenic factors VEGF and RANKL was observed in intermittent hypoxia-exposed neuroblastoma cells.

VEGF

hypoxia


Input: Conversely, Ndufs4 restoration in the VN corrected breathing deficits and prolonged the life span of knockout mice.

breathing


Input: Also, allele A of rs11705701 was associated with reduced amounts of the short isoform (p58) and increased levels of the long isoform (p66) of the IGF2BP2 protein in adipose tissue of non-obese diabetic and non-diabetic subjects.

obese


Input: Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.

bipolar disorder

bipolar disorder


Input: JMU-RTK-1, JMU-RTK-2, and G401 cells showed considerable aggressiveness compared with SWT-1 and SWT-2 cells (P < 0. 05).

SWT

aggressiveness


Input: In addition, the ALDH2 * 2 allele was also associated with the incidence of smoking-related airway obstruction, in the Cox proportional hazards model.

smoking


Input: To date, 35 additional rare or private PRSS1 variants have been identified in subjects with hereditary or sporadic, idiopathic chronic pancreatitis.

sporadic


Input: Inhibition of estrogen receptor reduces connexin 43 expression in breast cancers.

connexin 43

breast cancers

connexin 43

breast cancers


Input: Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).


Input: These findings suggest that the int-1 gene may be implicated in tumorigenesis of MLS with t (12; 16) (q13; p11).

tumorigenesis


Input: At 24 h, Ang-1 mRNA and protein expression within the infarct and peri-infarct regions were decreased compared to non-infarcted myocardium, whereas Ang-2 mRNA levels were markedly increased and TIE-2 expression was unchanged.

infarct


Input: Cyclooxygenase (COX) inhibitors have been reported to enhance 1, 25-dihydroxyvitamin D (3) (1, 25D)-induced monocytic differentiation of promyeloblastic HL60 cells, but the mechanisms of this effect are not fully elucidated, and whether this potentiation can occur in other types of myeloid leukemia is not known.

COX

myeloid leukemia


Input: In this study, we have genotyped 6 uncoupling protein 3 (UCP-3) polymorphisms (-55C/T, Int2-143G/C, Tyr99Tyr, Int3-47G/A, Int4-498C/T, and Tyr210Tyr) among 214 overweight Korean female subjects recruited from an obesity clinic.

overweight


Input: Radiogenomic mapping of edema/cellular invasion MRI-phenotypes in glioblastoma multiforme.

MRI

glioblastoma multiforme


Input: On the basis of the detection of JAK2, CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations in myelodysplastic/myeloproliferative neoplasms, we hypothesized that they may also contribute to progression in CML.

CBLB

myelodysplastic/myeloproliferative neoplasms


Input: However, the genes that NR0B1 regulates and the transcription factors it interacts with in Ewing' s sarcoma are largely unknown.

sarcoma


Input: NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I.

cytochrome b5 reductase

congenital methaemoglobinaemia

cytochrome b5 reductase

congenital methaemoglobinaemia


Input: Stargardt disease is a common inherited macular degeneration characterized by a significant loss in central vision in the first or second decade of life, bilateral atrophic changes in the central retina associated with degeneration of photoreceptors and underlying retinal pigment epithelial cells, and the presence of yellow flecks extending from the macula.

Stargardt disease

atrophic


Input: To better define the role of VEGF in edema, we examined the effectiveness of a novel small molecule KDR kinase inhibitor Compound-1 in reducing edema and infarct volume following focal cerebral ischemia in studies utilizing treatment regimens initiated both pre-and post-ischemia, and with study durations of 24-72 h. Rats were subjected to 90 min of middle cerebral artery occlusion (MCAO) followed by reperfusion.

VEGF

infarct


Input: The syndrome is characterized by mild or moderate hypercalcemia, hypocalciuria, and normal or slightly increased levels of parathormone.

parathormone

mild


Input: In the case for which FL and DLL cells showed different bcl-2/IgH junctional sequences, DLL cells incorporated larger bcl-2 and Ig-joining (JH) gene fragments than the corresponding FL cells, suggesting that DLL clones developed by a distinct t (14; 18) translocation rather than by alteration of the hybrid bcl-2/IgH gene detected in the FL cells.

translocation


Input: Therefore, to correctly establish MGMT expression in the tumor, which could be informative of glioma sensitivity to alkylating agents, exclusion of non-neoplastic brain components from analysis is required.

MGMT

non-neoplastic


Input: The study of 12 cases (the 7 cases described here and the previous 5 cases) strongly supports the hypothesis that hemophagocytosis by leukemic blasts is common and characteristic in this type of leukemia, which may be related to the specific chromosome aberration of t (16; 21) (p11; q22).

chromosome aberration


Input: The most frequent chromosome translocation associated with MALT lymphoma is t (11; 18) (q21; q21), which generates a chimeric protein of c-IAP2 and MALT1/paracaspase.

paracaspase

chromosome translocation


Input: We investigated alterations in AP-PCR DNA profiles of 30 glioma patients, and detected specific changes in 11 genes not previously associated with this disease: LHFPL3, SGCG, HTR4, ITGB1, CPS1, PROS1, GP2, KCNG2, PDE4D, KIR3DL3, and INPP5A.

glioma


Input: Patterns of allele loss (loss of heterozygosity, LOH) have been studied in order to investigate the genetic pathways involved in the pathogenesis of three types of colorectal cancer (CRC): sporadic CRC without replication errors (RER-) (32 cases); sporadic RER + CRC (23 cases); and ulcerative colitis-associated CRC (UCACRC) (16 cases).

RER

ulcerative colitis


Input: Two of the three rare variants were recurrent, located in the GCM2 CCID, and found in seven of the 40 (18%) kindreds with FIHP.

FIHP

FIHP


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

TWEAK

hypoxia


Input: Lynch syndrome (LS) is clinically defined by the Amsterdam criteria (AC) and by germline mutations in mismatch-repair (MMR) genes leading to microsatellite instability (MSI) at the molecular level.

MMR

microsatellite instability


Input: The VGLUT1 reduction was highly correlated with the degree of cognitive impairment, assessed with the clinical dementia rating (CDR) score.

cognitive impairment


Input: One of the symptoms of patients with POU1F1 mutations is hypothyroidism and abnormalities of the nervous system early in the period after birth.

nervous system


Input: Expression of NTS/NTSR1 on breast tumoral cells creates a cellular context associated with cancer aggressiveness by enhancing epidermal growth factor receptor activity.

aggressiveness


Input: Our data indicate that somatic MEN1 gene mutations contribute to a subset of sporadic EPT and NET, including midgut tumors.

NET

sporadic


Input: Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss.


Input: Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia.

catalase

acatalasemia

catalase

acatalasemia


Input: Haplotype trend regression analyses revealed that carriers of S12 haplotype had lower sociability-related traits such as Extraversion (EPI) and Novelty Seeking (TCI), whereas Harm Avoidance (TCI) (anxiety-related trait) was higher.

TCI

anxiety


Input: Bortezomib induces caspase-dependent apoptosis in Hodgkin lymphoma cell lines and is associated with reduced c-FLIP expression: a gene expression profiling study with implications for potential combination therapies.

c-FLIP

Hodgkin lymphoma

c-FLIP

Hodgkin lymphoma


Input: As DRB1 (*) 03 frequency, but not the closely linked TNFA-308 (*) 2, was decreased, this suggests recombination between the DRB1 and TNFA loci in this group of patients, and may help to define the biological basis of fistula formation.

fistula


Input: Neutrophil alkaline phosphatase (NAP) score in the diagnosis of hypophosphatasia.

NAP

hypophosphatasia


Input: HLA-DQA1 * 0104 allele and HLA-DQB1 * 0201 allele were implicated in susceptibility to asthma and atopy, HLA-DQA1 * 0301 allele and HLA-DQB1 * 0301 might be protective factor against asthma.

atopy


Input: Hereditary cystathioninuria (MIM 219500) is presumed to be caused by deficiency of the activity of cystathionine gamma-lyase (cystathionase; CTH EC 4. 4. 1. 1), which is normally required for the conversion of methionine into cysteine.

MIM

cystathioninuria


Input: Melatonin (MLT) is a pleiotropic neurohormone controlling many physiological processes and whose dysfunction may contribute to several different diseases, such as neurodegenerative diseases, circadian and mood disorders, insomnia, type 2 diabetes and pain.

MLT

insomnia


Input: Newly reported p. Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy.

Schnyder corneal dystrophy

Schnyder corneal dystrophy


Input: The administration of adenovirus-mediated RNAi and an atelocollagen/siRNA mixture against endogenous DUSP21 significantly suppressed xenograft HCC tumors in mice.

tumors


Input: The aim of this study was to explore the roles of RPS13 and RPL23 in multidrug resistance (MDR) in gastric cancer cells.

gastric cancer


Input: In this study, the COX-2 constitutive expression vector was transfected into a human lung adenocarcinoma cell line CL1. 0 and several clones were obtained which stably expressed COX-2.

lung adenocarcinoma


Input: Together, we conclude that p54 (nrb) is a novel regulator of SREBP-1a in the nucleus, and our data suggest that p54 (nrb) regulation of SREBP-1a supports the increased cellular demand of lipids for breast cancer growth.

breast cancer


Input: One of the five families we studied did not link to PLA2G6 locus, and in the family one of the two affected siblings additionally had atypical features including facial dysmorphism, pectus carinatum, scoliosis, pes varus, zygodactyly and bilateral cryptorchidism as well as cerebellar atrophy, as previously reported.

pectus carinatum


Input: We also observed that restoration of BRCA1 function stabilizes the genome compared with mutant BRCA1 that results in enhanced polyploid population after combination treatment with HDACi and PARPi.

polyploid


Input: PRG1, IL-10, CD68, IL-23a, and IL-12a expression in noncancerous tissue, and PRG1, ANXA1, IL-23a, IL-17a, FOXP3, and HLA-DRA expression in tumor tissues were associated with poor prognosis based on Cox regression (/Z-score/> 1. 5) and were used to generate the inflammatory risk score (IRS).

regression


Input: Ectopic nuclear bcl-10 expression is associated with API2-MALT1 but may also be seen in IGH-MALT1 fusion-positive, aneuploidy-only, and normal cases.

aneuploidy


Input: An HLA study suggested that DPB1 * 0301 is a strong genetic marker for AIA, and that HLA DRB1 * 1302 and DQB1 * 0609 are markers for AIU susceptibility.

AIA

AIA


Input: In addition, IP6 prevents the translocation of TERT to the nucleus.

TERT

translocation


Input: We have previously mapped the translocation breakpoints of t (8; 21) in a specific intron of the AML1 gene on chromosome 21.

translocation


Input: The total MRI score and MRI erosion score increased significantly from baseline to one year despite falls in clinical measures of inflammation including erythrocyte sedimentation rate (ESR), C reactive protein (CRP), and swollen joint count (p < 0. 01 for all).

MRI

erythrocyte sedimentation rate


Input: Normoxic and hypoxic regulation of vascular endothelial growth factor (VEGF) by astrocytoma cells is mediated by Ras.

VEGF

hypoxic


Input: The odds ratio for the risk of intrauterine fetal growth restriction, defined as birth weight < 10th percentile or < mean-1. 5 SD, in women homozygous for COMT-L alleles was 2. 63/2. 57 (95% confidence interval, 1. 14-6. 05/0. 96-6. 88).

COMT

birth weight


Input: The expression of the transcriptional regulators activating transcription factor-1 (ATF-1) and cAMP-responsive element (CRE)-binding protein (CREB) is upregulated in metastatic melanoma cells.

CREB

metastatic melanoma


Input: Although approximately 200 different mutations of the gp91-phox gene have been reported, no precise study of the proportion of sporadic cases in X-CGD, based on molecular genetic analysis, has been reported.

X-CGD

X-CGD


Input: A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).


Input: The heat-denatured p24 antigen assay was capable of measuring the plasma level of p24 derived from all the HIV-1 subtypes and recombinants selected for this study, in contrast to the RNA viral load test which lacked sensitivity towards HIV-1 group O.

viral load


Input: We then used genome-wide chromatin-immunoprecipitation coupled to high-throughput sequencing analysis to demonstrate that a small number of essential transcription factors-MYCN, HAND2, ISL1, PHOX2B, GATA3, and TBX2-are members of the transcriptional core regulatory circuitry (CRC) that maintains cell state in MYCN-amplified neuroblastoma.

neuroblastoma

neuroblastoma


Input: We have therefore examined HOXA13 in two new and four previously reported families with features of HFGS.

HFGS

HFGS


Input: Here, we report that estrogen and estrogen metabolites can cause DNA double-strand breaks (DSB) in estrogen receptor-α-negative breast cells and that BRCA1 is required to repair these DSBs to prevent metabolite-induced genomic instability.

genomic instability


Input: Both complement and the immunoglobulins are concerned with humoral immunity and the report of an association between a phenotype of the IgG heavy chain markers on chromosome 14 and retinopathy is of particular interest.

heavy chain

retinopathy


Input: Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.

Laforin

Lafora disease

Laforin

Lafora disease


Input: Confirmatory MANCOVA revealed reliable miR-100, miR-146a and miR-1274a as differentially expressed in AD reaching Bonferroni corrected significance.

AD

AD


Input: Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

Klippel-Feil syndrome

Klippel-Feil syndrome


Input: We hypothesize that the inability of HCCS-deficient cells to undergo cytochrome c-mediated apoptosis may push cell death toward necrosis that gives rise to severe deterioration of the affected tissues.

HCCS

necrosis


Input: Atp7a is required for these copper-dependent effects: Hippocampal neurons isolated from newborn Mo (br) mice reveal a marked sensitivity to endogenous glutamate-mediated NMDA receptor-dependent excitotoxicity in vitro, and mild hypoxic/ischemic insult to these mice in vivo results in significantly increased caspase 3 activation and neuronal injury.

caspase 3

mild


Input: Serum triglyceride (TG), fasting plasma glucose (FPG), postprandial plasma glucose (PPG), fasting serum insulin (FINs), glycated hemoglobin (HbAlc), postprandial serum insulin (PINS), homeostasis model assessment for insulin resistance (HOMA-IR), low-density lipoprotein-cholesterol (LDL-c), and high-density lipoprotein-cholesterol (HDL-c) were determined before and after rosiglitazone treatment.

PINS

insulin resistance


Input: Here, we demonstrate that hypoxia and REDD1 suppress mammalian TORC1 (mTORC1) activity by releasing TSC2 from its growth factor-induced association with inhibitory 14-3-3 proteins.

hypoxia


Input: To assess NMB function, proliferation was determined in the nonmalignant human colonic epithelial cell line NCM-460 and in the colon cancer cell lines Caco-2 and HT-29.

NCM

colon cancer


Input: Although CEBPA mutations are among the most common genetic abnormalities in acute myeloid leukemia (AML), the transformation mechanism remains largely obscure.

CEBPA

abnormalities


Input: Results from these studies suggest that TPA-induced microtubule reorganization is a prerequisite for integrin vesicle translocation in U937 cells and that vesicle translocation to the plasma membrane may be a prerequisite for the transcriptional activation of cd11b and cd11c integrin genes in the early stages of monocyte differentiation.

vesicle


Input: By contrast, a significant reduction was observed in levels of glutathione synthetase (P & lt; 0. 01), glutathione-S-transferase mu2 (P & lt; 0. 01), glutathione-S-transferase p (P & lt; 0. 05), antioxidant protein 2 (P & lt; 0. 05), thioredoxin peroxidase-I (P & lt; 0. 05) and thioredoxin peroxidase-II (P & lt; 0. 01) in DS compared with controls.

thioredoxin peroxidase-I

DS

thioredoxin peroxidase-I

DS


Input: Phylogenetic sequence analysis techniques were applied, which showed functional relationships between LGI1 and TRK and SLIT protein families that are known to be involved in development and maintenance of the nervous system.

TRK

nervous system


Input: As a result, an increased level of OGT and MGEA5 mRNA was related to larger tumor size, nodal metastases, higher grade and tumor behavior according to TFG scale, as well as incidence of disease recurrence (p < 0. 05).

TFG

metastases


Input: Here we refine the CORD5 locus previously mapped to 17p13 from 27 to 14. 3 cM and identified a missense mutation, Q626H in the phosphatidylinositol transfer (PIT) membrane-associated protein (PITPNM3) (MIM 608921) in two Swedish families.


Input: We identified three mutations of TBX1 in two unrelated patients without the 22q11. 2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge' s syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome.

DiGeorge' s syndrome

DiGeorge' s syndrome


Input: Most patients with NCL have progressive ocular and cerebral dysfunction, including cognitive/motor dysfunction and uncontrolled seizures.

NCL

seizures


Input: These data suggest that, in keeping with its role as a mediator of innate immunity, NGAL may have a central role to play in IAI-induced preterm birth.

NGAL

preterm birth


Input: CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering.

stuttering

stuttering


Input: We describe a case of CHN that presented with neonatal hypotonia and a progressive downhill clinical course, developing cranial nerve dysfunction, and respiratory failure.

CHN

respiratory failure


Input: In the present study, we sequenced all 15 exons of FUS in 152 familial probands with Essential Tremor and genotyped three reported FUS variants in 112 sporadic Essential Tremor patients and 716 control subjects recruited at Mayo Clinic Florida.

FUS

sporadic


Input: Substrate specificity was restricted to glycoproteins rich in O-linked glycans, including CD43, CD44, CD45, CD93, CD162 (PSGL-1; P-selectin glycoprotein ligand 1), and the surface-attached chemokine fractalkine, all implicated in leukocyte trafficking, migration, and inflammation.

inflammation


Input: The feed-forward loop engaged by hypoxia involves first an HIF-1-dependent vascular endothelial growth factor-A (VEGF-A) autocrine production and, in the later phase, activation of NADPH oxidase from VEGF/VEGFR2 interaction, finally leading to a further redox-dependent long lasting stabilization of HIF-1.

VEGF

hypoxia


Input: Studies of site-directed in vitro mutagenesis have confirmed that this mutation generates inactive lipoprotein lipase and is the cause of lipoprotein lipase deficiency.

lipoprotein lipase

lipoprotein lipase deficiency

lipoprotein lipase

lipoprotein lipase deficiency


Input: We evaluated the expression of genes encoding selected inflammatory factors in post-mortem specimen of adult TS patients: interferon-γ (a cytokine released from CD8 and Thelper 1 CD4 subset of T lymphocytes), interleukin-2 (IL-2, a growth factor derived from T lymphocytes), interleukin-1 β (a cytokine involved in initiation of inflammation), monocyte chemotactic factor-1 (MCP-1, a marker of chronic inflammation) and CD45 (pan-leukocytic marker).

inflammation


Input: An association of NOS1 with mood disorders, suggested by animal models, is less clear on the genetic level; however, NO metabolites in blood may serve as biomarkers for major depression and bipolar disorder.

major depression


Input: Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).

Zebra body myopathy

Zebra body myopathy


Input: Serum ZAG concentrations analyzed by enzyme-linked immunoassay were positively correlated with systolic and diastolic blood pressure in 326 subjects (236 males and 90 females) aged 17-79 years who had an annual health examination.

ZAG

diastolic blood pressure


Input: In this study, we aimed to examine the enhanced antitumor activity of adenovirus-mediated IL-24/OSM tumor suppressor gene cotransfer in human melanoma cells.

OSM

melanoma


Input: Enhancement of susceptibility to diverse skin tumor promoters by activation of the insulin-like growth factor-1 receptor in the epidermis of transgenic mice.

insulin-like growth factor-1 receptor

skin tumor

insulin-like growth factor-1 receptor

skin tumor


Input: In both families, genetic mapping and sequence analysis of candidate genes led to the identification of two novel homozygous mutations (IVS4-2A & gt; G and R124S, respectively) in GLUT2, the gene mutated in Fanconi-Bickel syndrome, a rare disease usually characterized by renal tubulopathy, impaired glucose homeostasis, and hepatomegaly.

Fanconi-Bickel syndrome

Fanconi-Bickel syndrome


Input: Thus, GDNF gene therapy may ameliorate the consequences of Parkinson' s disease through rescuing compromised dopaminergic neurons.

GDNF

Parkinson' s disease

GDNF

Parkinson' s disease


Input: We constructed a replication-defective recombinant adenovirus harboring human decorin gene (AdCMV. DC) and administered 1 x l0 (9) plaque-forming units of AdCMV. DC intratracheally or intravenously to C57BL/6 mice with intraperitoneal injection of bleomycin, which induces a subpleural fibroproliferation, mimicking UIP, by day 28.

decorin gene

adenovirus


Input: Epithelial-mesenchymal transition (EMT) is a crucial step in tumor progression and has an important role during cancer invasion and metastasis.

EMT

tumor progression


Input: Intratumoral or subcutaneous (away from the tumor site) injections of purified epidermal growth factor receptor-related protein caused regression of palpable colon cancer xenograft tumors in some severely compromised immunodeficient mice and arrested tumor growth in others.

epidermal growth factor receptor

regression


Input: Postischemic loss of VE-cadherin, occludin, and zona occludens-1 in SphK2-null mice with prior HPC suggests that SphK2-dependent protection of these adherens and tight junction proteins is compulsory for HPC to establish a vasculoprotective phenotype.

zona


Input: We postulate that deficiency of TKFC causes disruption of endogenous fructose metabolism leading to generation of by-products that can cause cataract.

TKFC

cataract

TKFC

cataract


Input: Here we analyse, on a larger panel of short-term cultures derived from melanoma-invaded lymph nodes, other mechanisms potentially implicated in OSM resistance.

OSM

melanoma


Input: In summary, we found that liver transplant recipients with IL-28B CC tended to have less advanced fibrosis prior to and significantly less after SOC treatment and that all recipients with IL-28B CC who achieved SVR had mild fibrosis at follow-up.

mild


Input: Three out of five previously mapped translocation breakpoints in multiple myeloma are also located within the FOR gene.

FOR

translocation


Input: The PlA2 polymorphism is an independent risk factor for acute renal graft rejection, affecting short-term graft survival.

graft rejection


Input: The ANK protein spans the outer cell membrane and shuttles inorganic pyrophosphate (PPi), a major inhibitor of physiologic and pathologic calcification, bone mineralization and bone resorption.

ANK

bone resorption


Input: These data show that long-term PDE5A treatment corrected CVOD in the aged rat and partially reversed the aging-related fibrosis and loss of SMC in the corpora cavernosa without affecting TGFB1 or PTPN11 levels, which are markers of oxidative stress.

SMC

aging


Input: The molecular facet of this translocation is represented by the formation of a new hybrid gene, the AML1-ETO, which is regularly transcribed in a chimaeric mRNA and translated into a new fusion protein believed to have a key role in the pathogenesis of this type of leukaemia.

translocation


Input: Three cases of the recently described translocation, t (7; 21) (p22; q22), were identified, which expressed RUNX1-USP42 (ubiquitin-specific protease 42) fusion transcripts, associated with 5q abnormalities and hyperploidy.

translocation


Input: To identify the translocation partners, these cases were further studied with probes for the MYC, BCL2, BCL6, BCL3, REL/BCL11A, JAK2/PDCD1LG2 (alias PDL2) C14orf43, and C2TA loci.

translocation


Input: In contrast, in patients with liver diseases, decreased protein S, but normal or increased levels of TFPI have been reported.

TFPI

liver diseases


Input: ANOVA on blood pressure values after adjustment for covariates [age, body mass index (BMI), contraceptive pill, tobacco and alcohol] showed that lipoprotein lipase (LPL) Ser447Ter and glycoprotein IIIA (GpIIIa) Pl polymorphisms were significantly associated with BP in women (0. 01 < or = P < or = 0. 05), whereas BP levels in men were significantly different according to apolipoprotein CIII (APOC3) 3206T/G and-482C/T polymorphisms (P < or = 0. 05).

body mass index


Input: Elevated mutation rates (mutator phenotype), including simple repeat instability [microsatellite instability (MSI)] are a signature of MMR defects.

MMR

microsatellite instability


Input: We then examined whether exposure to formula feeding, bacterial inoculation, cold stress and/or intermittent hypoxia affected intestinal VEGF expression.

VEGF

hypoxia


Input: CL1-5 and A549 human lung adenocarcinoma cells were stably transfected with vectors containing CTGF or hypoxia-inducible factor (HIF) 1alpha or with vector controls.

lung adenocarcinoma


Input: FTO expression in subcutaneous adipose tissue negatively correlates with obesity and insulin resistance.

FTO

insulin resistance


Input: Non-small cell lung carcinoma overexpressed VEGF and NP1 and NP2 significantly more often than neuroendocrine tumours including small cell lung carcinoma.

small cell lung carcinoma


Input: We therefore conclude that germline ENPP1 cysteine-specific mutations, primarily affecting the melanocyte lineage, cause a clinical spectrum of dyschromatosis, in which the p. Cys120Arg allele represents a recessive and more severe form of Cole disease.

Cole disease

Cole disease


Input: PUFA metabolites extracted from IBS biopsies or colons of mice with visceral hypersensitivity activated mouse sensory neurons in vitro, by activating TRPV4.

hypersensitivity


Input: Elevations in the level of CD40, degree of brain edema and NSS after TBI were significantly reduced in TBI + AG490 group.

brain edema


Input: In the present study, we investigated marvelD3 expression in well and poorly differentiated human pancreatic cancer cell lines and normal pancreatic duct epithelial cells in which the hTERT gene was introduced into human pancreatic duct epithelial cells in primary culture, and the changes of marvelD3 during Snail-induced epithelial-mesenchymal transition (EMT) under hypoxia, TGF-β treatment and knockdown of FOXA2 in well differentiated pancreatic cancer HPAC cells.

TGF-β

hypoxia


Input: A subgroup of elderly patients with depressive symptoms, cognitive impairment, and a high likelihood of experiencing thoughts of death or suicide may exist that may not be related to APOE-epsilon4.

APOE

suicide


Input: All patients underwent tumor microsatellite instability (MSI) analysis and immunostaining for MLH1/MSH2, and those with MMR underwent tumor BRAF mutation analysis and MLH1/MSH2 germline testing.

MMR

microsatellite instability


Input: The results indicated that variant in FTO gene was significantly associated with increased risk of overweight/obesity in children and adolescents (OR = 1. 35; 95% CI: 1. 27-1. 44; P < 0. 001).

FTO gene

overweight


Input: Here, we present a cohort of 18 individuals with mild ID and behavioral issues who are haploinsufficient for NFIB.

NFIB

ID

NFIB

ID


Input: The degree of MMR immunoreactivity and genetic instability in the form of loss of heterozygosity (LOH) and/or microsatellite instability (MSI) were determined by comparing matched normal and tumor tissue.

MMR

microsatellite instability


Input: Since hypoxia is known to induce the production of growth factors, such as vascular endothelial growth factor (VEGF), we examined the implication of hypoxia-induced VEGF in the proliferation of human coronary artery smooth muscle cells (CASMCs).

VEGF

hypoxia


Input: The knockdown of BRN2 caused significant growth retardation with decrease of S to G2 phase population and mitotic cell rates and unaltered Ki-67-labeled or apoptotic cell rates in SCLC cells, indicating increase of G1 phase population.

growth retardation


Input: We also replicated the associations of the FLG, C11orf30, TMEM232-SLC25A46, TNFRSF6B-ZGPAT, OVOL1, ACTL9 and KIF3A-IL13 loci that were previously reported in GWAS of European and Chinese individuals and a meta-analysis of GWAS for atopic dermatitis.

atopic dermatitis

atopic dermatitis


Input: The number of HLA-G + cells was significantly associated with the area of fibrosis.

HLA-G

fibrosis


Input: SFKs exert a prominent role in these cells, phosphorylating key regulators of adhesion and migration and promoting tyrosine phosphorylation of the receptor tyrosine kinases EGFR and Met.

EGFR

adhesion


Input: Key differences in secondary and tertiary structure between myoc-OLF (D380A) and wild-type myoc-OLF, as well as limited access to chelators, indicate that the calcium binding site is largely buried in the interior of the protein.

OLF

secondary


Input: The current article reports preliminary results from a screening protocol using high-quality magnetic resonance imaging (MRI), ductal lavage (DL), clinical breast examination, and mammography to identify early malignancy and high-risk lesions in women at increased genetic risk of breast carcinoma.

MRI

breast carcinoma


Input: Herein, we present the first report of disruption and haploinsufficiency of the KANSL1 gene, secondary to a t (1; 17) (q12; q21) dn chromosomal translocation in a girl that also carried a de novo ~ 289-kb deletion on 16p11. 2.

KANSL1 gene

chromosomal translocation


Input: Thus, NR4A3 and NR4A1 are attractive novel therapeutic targets for potential amelioration of insulin resistance, and treatment and prevention of type 2 diabetes and the metabolic syndrome.

insulin resistance

insulin resistance


Input: This phenotype is induced by overexpression of the oncogene AURKA or by loss of the tumour suppressor gene CHK2, a genetic constitution found in 73% of human colorectal cancers.

AURKA

colorectal cancers

AURKA

colorectal cancers


Input: We isolated the AML1/EVI-1 fusion gene generated by the t (3; 21) translocation, which is usually found in blastic crisis of chronic myelocytic leukemia.

translocation


Input: The carcinogenic plant extract aristolochic acid (AA) is thought to be the major causative agent in the development of urothelial carcinomas found in patients with Chinese herb nephropathy (CHN).

CHN

nephropathy


Input: When the analysis was stratified by inventory type, there was a significant association between 5-HTTLPR and NEO neuroticism (P = 0. 000016), a non-significant association between 5-HTTLPR and TCI/TPQ harm avoidance (P = 0. 166), and no association between 5-HTTLPR and other anxiety-related personality traits (P = 0. 944).

TCI

anxiety


Input: Eighty-five percent of follicular lymphomas possess a characteristic t (14; 18) translocation that results in the deregulated expression of the proto-oncogene BCL-2.

translocation


Input: TDI-induced asthma is an inflammatory disease of the airways that is associated with airway remodeling.

TDI

airway remodeling


Input: Recent studies suggest that younger acute myeloid leukemia (AML) patients whose leukemic blasts express the multidrug resistance gene-1 (MR1) have a poor prognosis.

acute myeloid leukemia


Input: For cross-sectional analysis across the spectrum of HIV-1 disease, plasma viral load was evaluated in 112 HIV-1-infected patients by quantitative competitive polymerase chain reaction analysis, plasma p24 antigen assay, plasma immune complex-dissociated p24 antigen assay and an endpoint dilution viral culture.

viral load


Input: No significant differences were found in age at onset, sex, disease duration, history of enthesopathy, peripheral arthritis and uveitis, Schober test, chest expansion, white blood cell count, C-reactive protein and erythrocyte sedimentation rate among patients with SpA according to the CTLA-4 exon 1, CTLA-4 promoter and Fas promoter polymorphisms.

C-reactive protein

enthesopathy


Input: To establish a role for insulin-like growth factor-1 (IGF-1) in bladder cancer susceptibility, we tested the effect of p-cresidine, a potent bladder carcinogen, in transgenic (TG) mice with human IGF-1 expression in the bladder driven by the bovine keratin 5 promoter (referred to as BK5. IGF-1 TG mice).

insulin-like growth factor-1

bladder cancer

insulin-like growth factor-1

bladder cancer


Input: The high ratio of Bcl-2 to Bax in patients with bcl-2 rearrangement and disappearance of the rearrangement with antiviral therapy suggest that the translocation is associated with the antiapoptotic function of Bcl-2 and that HCV infection is linked to inhibition of B-cell apoptosis.

translocation


Input: Immunohistochemistry and Western blot demonstrated that Eag1 and VDR abundance was higher in invasive-ductal carcinoma than in fibroadenoma, and immunoreactivity of both proteins was located in ductal epithelial cells.

ductal carcinoma


Input: In the FTO-instrumented analysis only, higher BMI and overweight were also associated with CMD.

FTO

overweight


Input: Thus, FXR appears to be a promising target for the treatment of non-alcoholic steatohepatitis (NASH).

FXR

alcoholic steatohepatitis


Input: In a reference panel, we characterized LD structure at the fibrinogen gene cluster (fibrinogen-beta [FGB], FGA, and FGG), factor VII (F7), and tissue plasminogen activator (PLAT) loci.

PLAT

fibrinogen


Input: We hypothesized that a single nucleotide C > T polymorphism at position-159 in the CD14 gene that results in elevated CD14 production would influence susceptibility to preterm premature rupture of membranes (PPROM) and spontaneous preterm birth (SPTB) in multi-fetal pregnancies.

premature rupture of membranes


Input: The folate receptor alpha is frequently overexpressed in osteosarcoma samples and plays a role in the uptake of the physiologic substrate 5-methyltetrahydrofolate.

folate receptor alpha

osteosarcoma

folate receptor alpha

osteosarcoma


Input: A novel keratin 12 mutation in a German kindred with Meesmann' s corneal dystrophy.

keratin 12

Meesmann' s corneal dystrophy

keratin 12

Meesmann' s corneal dystrophy


Input: On the basis of this knowledge, we demonstrate how the loss of RASSF1A function in medulloblastoma cells might be overcome using the novel BH3-only mimetic ABT-737 in combination with chemotherapeutic agents to target the BCL-2 anti-apoptotic members.

medulloblastoma

medulloblastoma


Input: These findings indicate that PPARγ activation attenuates a program of hypoxia-induced ET-1 signaling by inhibiting activation of hypoxia-responsive transcription factors.

PPARγ

hypoxia


Input: The mild starvation induced these KDM2A activities through AMP-activated kinase (AMPK) but did not affect another AMPK effector of rRNA transcription, TIF-IA.

mild


Input: We recently reported two common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases.

FLG

secondary


Input: The pattern of associations between maternal phosphoglucomutase locus 1 (PGM1) and foetal macrosomia in diabetic pregnancy has been compared with that observed in normal pregnancy.

foetal macrosomia


Input: Gene expression in patients with endogenous depression was similar to that in the normal controls, except for upregulation of five genes (APP, CREBBP, GNAS, PDCD2 and PDCD6).

CREBBP

endogenous depression

CREBBP

endogenous depression


Input: However, our findings indicated that the bystander effect between C17. 2tk and Daoy MB cells was weak compared to the bystander effect between NSCtk and C6 glioma cells.

glioma


Input: These were the platelet glycoprotein (GP) receptors GPIIIa, GPIa, GPIbalpha; platelet ligands beta-fibrinogen and von Willebrand Factor (vWF); interleukins (IL) IL-1RN, and IL-6; adhesion proteins E-selectin and P-selectin; and metalloproteinase MMP-9.

GPIbalpha

adhesion


Input: HOXD10, HOXD11, HOXD13, CCL8 and LIM homeobox 2 were highly and exclusively expressed in RA and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA.

CLU

OA

CLU

OA


Input: Thus, pretranslational suppression of GLUT 4 transporter gene expression may be an important mechanism that produces and maintains cellular insulin resistance in NIDDM.

GLUT

insulin resistance


Input: Liver tissue was collected from 31 patients with diagnosis of HCC and gene expression levels in the tumours and their adjacent non-neoplastic tissues samples were studied by analyzing changes by microarray then correlate these with the clinico-pathological parameters.

HCC

non-neoplastic


Input: Supporting studies in mutant mice models suggest a complex mechanism of low constitutive and activity-dependent BDNF function in MDD, particularly affecting SST/NPY-related GABA neurons, thus linking the neurotrophic and GABA hypotheses of depression.

SST

MDD

SST

MDD


Input: Animals reconstituted with AML1-ETO-expressing cells recapitulate the hematopoietic developmental abnormalities seen in the bone marrow of human patients with the t (8; 21) translocation.

translocation


Input: A genetic risk score (GRS) was determined based on genotypes of these four schizophrenia risk-associated genes in 221 Caucasian subjects (89 schizophrenia patients and 132 controls).

GRS

schizophrenia


Input: Microsatellite regions in the type II transforming growth factor-beta receptor (TGF-beta RII) gene appear to be targets for mutation in some cancers displaying microsatellite instability (replication error phenotype, RER +).

RER

replication error phenotype


Input: The aims of this study were to 1) assess the influence of SHP on hematological parameters in ESRD patients, 2) evaluate whether or not calcitriol could improve anemia and reduce the need of erythropoietin in dialysis patients, and 3) investigate the longitudinal effect of a parathyroidectomy for 6 months on regarding any improvements in calcitriol-refractory ESRD patients.

SHP

anemia


Input: The antinociceptive effect of ALC has been confirmed in several experimental models of neuropathic pain, including streptozotocin-and chemotherapy-induced neuropathy, and the sciatic nerve chronic constriction injury model.

ALC

neuropathic pain


Input: Mbnl1 (ΔE3/ΔE3)/Mbnl3 (ΔE2) mice, depleted of Mbnl1 and Mbnl3, demonstrate a profound enhancement of myotonia and an increase in the number of muscle fibers with very low Clc-1 currents, where gClmax values approach ~ 1 mS/cm (2), with the absence of a further enhancement in Clc-1 splice errors, alterations in polyA site selection or Clc-1 localization.

myotonia


Input: The results of this SNP case-control study suggested an association between 4896C/T in the C3 gene and atopic childhood BA (P = 0. 0078) as well as adult BA (P = 0. 010).

C3 gene

atopic


Input: Exogenous VEGF administered into the vitreous on P14 was not sufficient to cause vitreous neovascularization in the HT mice.

neovascularization


Input: We sought to determine if inhibition of the AAP bcl-xl by sodium butyrate (SB) would augment apoptotic cellular death in mesothelioma when combined with adenoviral pro-apoptotic gene therapy (PAGT) by simultaneously increasing PAP and decreasing AAP in these cells.

bcl-xl

mesothelioma


Input: Several recent reports suggest that the PPARGC1A Gly482Ser (rs8192678) missense polymorphism may relate inversely with blood pressure.

blood pressure


Input: All-trans-retinal and its condensation-products can cause retinal degeneration in a light-dependent manner and contribute to the pathogenesis of human macular diseases such as Stargardt' s disease and age-related macular degeneration.

Stargardt' s disease

retinal degeneration


Input: These findings account for the absence of BPAG2 in GABEB patients and attest to the importance of this protein in adhesion of epidermis to epidermal basement membrane.

adhesion


Input: Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene.

pituitary hormone deficiency


Input: ZEB1 is an activator of an epithelial-mesenchymal transition (EMT) and has crucial roles in tumour progression towards metastasis.

EMT

tumour progression


Input: Through Akt1 dependent pathways, Wnt1 phosphorylates GSK-3beta and maintains beta-catenin integrity to insure its translocation from the cytoplasm to the nucleus to block apoptosis.

translocation


Input: Specifically, one complex rearrangement was described as a der (12) t (X; 12) (q28; q24. 33), which is the first report of a translocation involving MECP2 on Xq and chromosome 12.

translocation


Input: Either VIP or hypoxia mimetics with Ni (2 +) increased VEGF expression whereas both conditions together resulted in an additive response.

VEGF

hypoxia


Input: Hepatic insulin resistance may represent the key metabolic defect responsible for mild elevations of fasting blood glucose associated with the FTO phenotype.

FTO

insulin resistance


Input: The results show that CD7-T cells accumulate in certain inflammatory skin lesions without alteration of the circulating CD7-population.

skin lesions


Input: The two-in-one protein structure, the ubiquitous expression profile, and the protein' s unique biophysical characteristics that enable divalent ion transport involve TRPM7 in a plethora of (patho) physiological processes.

plethora


Input: Taken together, the results of this study reveal a prominent role for MARCKS as one of the key players in the migration of CCA cells and suggest that cycling between MARCKS and pMARCKS can regulate the metastasis of biliary cancer cells.

MARCKS

biliary cancer


Input: The disorder has a significant genetic component, and theories of etiology include abnormalities in the dopaminergic system, with DRD4, DAT1, SNAP25, and DRD5 being implicated as major susceptibility genes.

abnormalities


Input: Detection of the bcl-2 t (14; 18) translocation and proto-oncogene expression in primary intraocular lymphoma.

translocation


Input: In contrast, thymidine phosphorylase mRNA was higher in cancer cells than in cancerous stroma in gastric cancer (p & lt; 0. 0001) and lower in cancer cells than in cancerous stroma in colon cancer (P = 0. 0055).

thymidine phosphorylase

gastric cancer

thymidine phosphorylase

gastric cancer


Input: We also found SRSF2, as well as another tau splicing factor, TRA2B, to be increased in brains of PSP patients.

PSP

PSP


Input: We have analyzed samples from 30 leukemia patients who had chromosome rearrangements involving 21q22 by using fluorescence in situ hybridization (FISH).

FISH

leukemia


Input: Allelic variants of a single nucleotide polymorphism (SNP), rs7566605, located approximately 10 kb upstream of the INSIG2 gene have been found in association with body weight and with other clinical features related to obesity in some populations but not in others.

INSIG2 gene

body weight


Input: Further, knockdown of endogenous GRP78 by small interfering RNA (siRNA) sensitizes MCF-7/BUS cells to estrogen starvation-induced apoptosis.

starvation


Input: We furthermore identified genes with a significant trend correlating with age in the control (MLL3) or the schizophrenia group (SOX5, CTRL).

CTRL

schizophrenia

CTRL

schizophrenia


Input: Analyses of serum TTR of the Y114C TTR carriers by electrospray ionization mass spectrometry (ESI-MS) with the orifice corn voltage at 60 V revealed a small peak of the free Y114C TTR in addition to large TTR peaks of normal TTR.

TTR

corn


Input: Further studies showed that miR-657 directly targets the transducin-like enhancer protein 1 (TLE1) 3' untranslated region (UTR) and activates nuclear factor kappa B (NF-κB) pathways that contribute to hepatocarcinogenesis.

UTR

hepatocarcinogenesis


Input: The expression and functional role of Stat3 and survivin was evaluated in 2 salivary gland adenocarcinoma cell lines (HSY and HSG).

salivary gland adenocarcinoma


Input: Hyperactivity in Git1 (-/-) mice is reversed by amphetamine and methylphenidate, psychostimulants commonly used to treat ADHD.

ADHD

ADHD


Input: The aims of this study were to determine in hypoxia-stimulated nasal polyp-derived fibroblasts (NPDF) the effect of hypoxia on the differentiation of myofibroblasts, the role of ROS, the major Nox homolog mediating myofibroblast differentiation, and the role of TGF-β (1).

TGF-β

hypoxia


Input: It is completely unresolved, whether coding mononucleotide repeat (cMNR) gene mutations in these mice can contribute to intestinal tumorigenesis and whether MMR-deficient mice are a suitable molecular model of human microsatellite instability (MSI)-associated intestinal tumorigenesis.

MMR

microsatellite instability


Input: Results showed that hypoxic exposure induced a marked accumulation of autophagosomes accompanied by mRNA induction of the autophagy-related genes Beclin-1, Atg5, Atg7, and Atg12.

hypoxic


Input: We investigated the involvement of ATX in inflammatory bowel disease patients and two murine models of colitis.

ATX

inflammatory bowel disease


Input: We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R + 2199 A/C polymorphisms with IL-6, IL-17, IL-21, IL-23 and TGF-β1 mRNAs expression in regard to H. pylori infection with chronic gastritis.

chronic gastritis


Input: This study aimed to clarify whether ischemia-induced early growth response 1 (EGR1) influenced the outcomes of experimental stroke by regulating brain-derived neurotrophic factor (BDNF) expression.

BDNF

ischemia


Input: The patient carrying the p. K992R SETX polymorphism had a phenotype similar to that of the diagnosed AOA2 patients, while the other three undiagnosed subjects had a very late onset and a few distinguishing clinical features.

SETX

SETX


Input: Isolated MYC cytogenetic abnormalities in diffuse large B-cell lymphoma do not predict an adverse clinical outcome.

MYC

cytogenetic abnormalities


Input: In this study, we demonstrate functional expression of the proteinase-activated receptor 2 (PAR (2)), a member of a G-protein receptor subfamily in primary cholangiocarcinoma (PCCA) cell cultures.

PCCA

cholangiocarcinoma


Input: These results did not change after adjustment for HDL-C. No significant interaction between alcohol consumption and the CETP-TaqIB polymorphism in determining HDL-C was found.

CETP

alcohol consumption


Input: Neither first-nor second-phase glucose-stimulated C-peptide secretion was affected by the presence of the polymorphism; nor were maximal glucose-, GLP-1-, or arginine-induced C-peptide secretion rates; nor was insulin sensitivity (all P > 0. 7).

insulin sensitivity


Input: Indian patients who have neurological abnormalities associated with XP should be screened for mutations in the XPA gene.

XPA gene

abnormalities


Input: GDF5 is a novel BDA2 causing gene. It is suggested that impaired activity of BMPR1B is the molecular mechanism responsible for the BDA2 phenotype.


Input: We also found suggestive associations in women for GAD1, GRIA3, and BDNF with depression accompanied by fatigue, and for CRHR1 with depression accompanied by early morning awakenings.

fatigue


Input: We studied the K1 and K10 genes in blood and in the keratinocytes and fibroblasts of lesional and nonlesional skin from three patients with epidermal nevi and four of their offspring with epidermolytic hyperkeratosis.

epidermolytic hyperkeratosis

epidermolytic hyperkeratosis


Input: In this study, we constructed a novel oncolytic adenovirus-based shRNA expression system, ZD55-Ki67, and explored ZD55-Ki67-mediated RNAi for Ki-67 gene silencing.

adenovirus


Input: GLIS3, a susceptibility gene for type 1 and type 2 diabetes, modulates pancreatic beta cell apoptosis via regulation of a splice variant of the BH3-only protein Bim.

BH3-only protein

type 2 diabetes


Input: Direct sequencing of FA2H was conducted in 31 AR-HSP families and 55 sporadic cases without SPG11, SPG15, SPG5 and SPG7 gene mutations.

SPG7 gene

sporadic


Input: Lysosomal stress in obese adipose tissue macrophages contributes to MITF-dependent Gpnmb induction.

MITF

obese


Input: In conclusion, we detected a role of SLC6A4 in mood changes after stressful events, and revealed new putative associations involving DDC and PRKCB.

DDC

mood changes

DDC

mood changes


Input: On cryo-cut sections atypical lymphocytes with additional Her 2/neu gene copies were detected in the dermis as well as in the epidermis of affected skin.

neu gene

atypical lymphocytes


Input: Further, implanted tumor growth (sarcoma-180, Lewis lung carcinoma) was markedly suppressed in EP3 (-/-), in which tumor-associated angiogenesis was also reduced.

sarcoma


Input: We hypothesized that EGFR expression and gene copy number changes are predictors of the risk of an oral premalignant lesion (OPL) progressing to oral squamous cell carcinoma (OSCC).

EGFR

premalignant lesion


Input: Overall, our results indicate inhibition of NF-kappaB activation contributes, at least partially, to the antitumour activity of TSA in human tongue carcinoma cells.

TSA

tongue carcinoma


Input: Nicotinamide improves motor deficits and upregulates PGC-1α and BDNF gene expression in a mouse model of Huntington' s disease.

BDNF gene

motor deficits


Input: These preliminary results confirmed that MRI is a very useful tool to screen subjects at high genetic risk for breast carcinoma, not only in pre-, but also in post-menopausal age, with a low probability of false positive cases.

MRI

breast carcinoma


Input: Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome.

Joubert syndrome

Joubert syndrome


Input: Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and microcephaly, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.

PED

neurological disorders


Input: Data presented here identify a novel role for macrophages in EMT-promoted tumor progression.

EMT

tumor progression


Input: The occurrence of severe anemia (hemoglobin < 10 g/dl) did not differ when comparing RBV vs. high RBV + EPO (7% vs. 3%; p = 0. 4).

EPO

hemoglobin


Input: After adjusting for hypertension, diabetes, hypertriglyceridemia, and hypercholesterolemia, MMP2-1306 T allele carriers (CT + TT) also had a significantly increased risk of RVO (B = 1. 453; p < 0. 001; odds ratio = 4. 275; 95% CI: 2. 529-7. 224).

hypercholesterolemia


Input: Our results suggest that the Gln192Arg polymorphism of the PON1 gene may not be involved in the susceptibility to schizophrenia.

schizophrenia

schizophrenia


Input: The present study evaluated the prognostic significance of apoptosis-related proteins, p53, Bcl-2, Bax, and galectin-3 in patients with locally advanced esophageal cancer treated with definitive chemoradiotherapy.

esophageal cancer

esophageal cancer


Input: In this study, we explored the role of NF-κB in the dysfunction of splenic macrophages in hypersplenism due to liver cirrhosis.

NF-κB

hypersplenism


Input: The t (14; 18) (q32; q21)/IGH-MALT1 translocation in gastrointestinal extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma).

translocation


Input: Lipid-lowering therapy resulted in decreased SLC activity secondary to a fall in Vmax.

SLC

fall


Input: Another patient had a CDP-like phenotype, ichthyosis, and hypogonadism.

CDP

hypogonadism


Input: The ability of cells expressing these mutants to form DNA repair foci comprising phosphorylated H2AX in response to mild doses of cisplatin or UV irradiation was markedly diminished, unlike the nearly normal response of cells expressing wild-type GFP-lamin A or disease-causing H222P and R482L mutants.

lamin A

mild


Input: In the second patient, a female with mental retardation and ectodermal dysplasia and a balanced translocation, t (X; 9) (q13. 1; p24), we mapped the 9p24 breakpoint to a region overlapping with the centromeric end of the 230-kb subtelomeric deletion.

mental retardation


Input: Further phylogenetic analysis showed that mammalian CoAA and RBM4 genes share common ancestry with the Drosophila melanogaster gene Lark, which is known to regulate early development and circadian rhythms.

circadian rhythms


Input: The aim of this study was to determine (i) whether chemical blockade of stress-induced increase of colonic paracellular permeability by 2, 4, 6 triaminopyrimidine (TAP) affects the concomitant hypersensitivity to colonic distension, (ii) the role of epithelial cell contraction in the stress-induced increased permeability and hyperalgesia, using a myosin light chain kinase inhibitor (ML-7).

TAP

hyperalgesia


Input: Autotaxin is the enzyme responsible for the production of lysophosphatidic acid (LPA) from lysophosphatidyl choline (LPC), and it is up-regulated in many inflammatory conditions, including but not limited to cancer, arthritis, and multiple sclerosis.

LPA

arthritis


Input: PMS2 and MSH2-MSH6 abnormalities, respectively, resulted in a decrease and complete loss of gene expression.

abnormalities


Input: Chemokine receptor 5 (CCR5) up-regulation may influence the recruitment and accumulation of glia near senile plaques; activated microglia express CCR5 and reactive astrocytes express chemokines.

senile plaques


Input: The desmoplastic type showed high expression of podoplanin, prolyl 4-hydroxylase, S100A4, PDGFRα, and PDGFRβ, whereas the sclerotic type exhibited low expression of FAPα, PDGFα, PDGFβ, and NG2.

podoplanin

desmoplastic


Input: Our finding confirms the recent report that NPHP3-null mutations cause renal-hepatic-pancreatic dysplasia.

renal-hepatic-pancreatic dysplasia

renal-hepatic-pancreatic dysplasia


Input: Similarly, expression of the hypoxia-regulated angiogenic factor, vascular endothelial growth factor (VEGF) to a high level resulted in tumor cell dissemination and metastasis, which correlated with increased tumor neovascularization.

VEGF

hypoxia


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

ischemia


Input: We have also shown that hemin increased the size of autophagic vacuoles which were labelled with LC3 and the degradative lysosomal marker dye quenched-bovine serum albumin.

autophagic vacuoles


Input: We concluded that several prognostic factors are the reflection of microenvironment interactions and that the increased adhesion/migratory capacity of ZAP70 (+) cells in their microenvironment can explain their better survival and thus the aggressiveness of the disease.

adhesion


Input: Based on its interaction with the MutL homologue MLH1, it was postulated that MLH3 might play a role in tumorigenesis.

tumorigenesis


Input: Our findings suggest that the PPARGC1A Ser482 allele may be associated with higher blood pressure, but this is only apparent in younger adults.

blood pressure


Input: p. A143T patients suffering from stroke/transient ischemic attacks had slightly decreased residual GLA activities, and/or increased lyso-Gb3 levels, suspecting FD.

GLA

FD

GLA

FD


Input: Moreover, weak expression of ANKRD18A in methylated lung cancer cell lines increased markedly after treatment with the DNA methylation inhibitor 5-aza-2'-deoxycytidine.

lung cancer

lung cancer


Input: Screening of PDE4D identified heterozygous mutations (c. 568T & gt; G [p. Ser190Ala] and c. 1759A & gt; C [p. Thr587Pro]) in two additional acrodysostosis cases.

acrodysostosis

acrodysostosis


Input: The first association was between IFN-gamma and IL-12, with 76% of granulomas staining positive for both cytokines.

IFN

granulomas


Input: Megalencephalic leukoencephalopathy with cysts (MLC) is a genetic disease characterized by infantile onset white matter edema and delayed onset neurological deterioration.

MLC

edema


Input: Altered expression of astrocyte elevated gene-1 (AEG-1) is associated with tumorigenesis and progression.

tumorigenesis


Input: Promoter hypermethylation of RAMP2, epidermal growth factor-containing fibulin-like extracellular matrix protein 1, and deleted in U Twenty Twenty cells was detected in 36% to 77% of 22 lung cancer cell lines and in 38% to 50% of 32 primary lung tumors, whereas hypermethylathion of these genes was rarely found in the matched normal samples.

lung tumors

lung tumors


Input: In this report, we describe a novel VEGFR3 mutation in exon 22 in a four-generation family in which congenital lymphedema segregates in an autosomal dominant manner.

congenital lymphedema

congenital lymphedema


Input: In this study, we demonstrate that cancer malignancy associated with the glycosylation of CD63 is regulated by RPN2.

malignancy


Input: The GKN1 expression was downregulated in 36 H. pylori-positive patients with respect to 29 H. pylori-negative subjects as evaluated by Western blot, reverse transcriptase polymerase chain reaction (RT-PCR) and immunohistochemistry, showing a progressive decrease from chronic gastritis to atrophy and intestinal metaplasia.

atrophy


Input: However, the metoprolol-induced fibrosis and cardiac dysfunction were not evoked in β-arrestin2-or GRK5-knock-out mice.

fibrosis


Input: Because both cortisol and CRH have behavioral effects, and hypothalamic CRH hypersecretion has been associated with chronic states of anxiety and depression, we performed endocrine and psychologic studies in consecutively admitted parents of patients with classic congenital adrenal hyperplasia due to 21-OH deficiency and parents of children with other chronic endocrine disorders.

CRH

endocrine disorders


Input: Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and tremor.

ADCA

cerebellar signs


Input: Importantly, changes in homeostasis model assessment-insulin resistance were predictive of changes in serum chemerin (P = 0. 046).

chemerin

insulin resistance


Input: A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?

GFAP

Alexander disease

GFAP

Alexander disease


Input: TTV infection was not associated with hepatitis B or C virus infection in blood donors.

TTV

virus infection


Input: Taken together, this study implicates EAAC1-dependent cysteine uptake as an endogenous source of enhancing antioxidant function and zinc homeostasis in neurons in the ischemic brain.

brain

brain


Input: The results of this case-control study indicate a strong association between allelic variants of MTNR1A and recurrent calcium nephrolithiasis.

calcium nephrolithiasis


Input: For this aim, a total of 30 gastric adenocarcinoma patients and 30 normal individuals were selected and examined for MT2 gene expression by real-time PCR.

gastric adenocarcinoma


Input: The ADRbeta3 variant was not significantly associated with any of the obesity-related traits, but subjects with the PPAR-gamma2 variant (n = 98) had significantly higher levels of lasting insulin (P = 0. 03), leptin (P = 0. 009), and waist circumference (P = 0. 03) than those without.

PPAR

waist circumference


Input: The aim was to examine cervical interleukin (IL)-6 and IL-8 in relation to microbial invasion of the amniotic fluid, intra-amniotic inflammation, and preterm birth in women in preterm labor.

preterm birth


Input: Inactivating PROP1 gene alterations are responsible for over 50% of familial combined pituitary hormone deficiency cases.

PROP1 gene

pituitary hormone deficiency


Input: The expression of AQP9 was up-regulated in this glaucoma model and the immunoreactivities of the AQP4 and GFAP were also detected as co-localizing with AQP9 in the optic nerve region, indicating retina ganglion cells were surrounded by activated astrocytes.

glaucoma


Input: Twist1 is known to be involved in epithelial-mesenchymal transition (EMT) and tumor progression.

EMT

tumor progression


Input: 3M syndrome (MIM 273750) is an autosomal recessive disorder characterized by pre-and post-natal growth retardation (<-4 SD), facial dysmorphism, large head circumference, normal intelligence and endocrine function.

MIM

facial dysmorphism


Input: Three patients with X-linked hyper-IgM syndrome (XHIM), who were all asymptomatic until they developed B19-induced chronic anemia at the ages of 8, 14, and 17 years, respectively, were found to have mutations of the CD40L gene, including a missense mutation (T254M), a nonsense mutation resulting in a new initiation codon and loss of the intracellular domain (R11X), and a splice site mutation (nt 309 + 2t--> a).

asymptomatic


Input: Caspr2 is a member of neurexin superfamily, members of which are transmembrane proteins that mediate cellular interactions in the nervous system.

nervous system


Input: Our STP mice exhibited advanced ADM, increased fibrosis, increased numbers of PanIN lesions, overexpression of chronic pancreatitis-related marker Muc6, and elevated expression of desmoplasia-associated marker Col1A1, compared to the MT-TGFα mice.

STP

chronic pancreatitis


Input: Upon the induction of myocardial ischaemia-reperfusion in the OVX rats, plasma creatine kinase-(muscle-brain) was depressed by PPT and oxytocin, whereas DPN, PPT and OT reduced plasminogen activator inhibitor-1 concentrations.

PPT

myocardial ischaemia


Input: Seventeen paraffin-embedded specimens of carcinomas of the bilary system were subjected to loss-of-heterozygosity (LOH) and microsatellite instability analyses, methylation-specific polymerase-chain reaction (MSP) and immunohistochemical detection of PROX1 protein in tumor sections.

microsatellite instability


Input: To determine the frequency of mismatch repair (MMR) gene germline mutations in endometrial cancer patients who were diagnosed at less than 50 years of age; to relate the presence of mutations to family history, histopathologic data, presence of tumor microsatellite instability (MSI), and immunostaining; and to formulate criteria for genetic testing in these patients.

MMR

microsatellite instability


Input: A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease.

Wilson disease

Wilson disease


Input: The 2009 NCCN Clinical Practice Guidelines in Oncology for Breast Cancer Screening and Diagnosis include significant updates for the role of MRI in screening women at increased risk for breast cancer.

MRI

breast cancer


Input: DNMT3L promoter hypomethylation was more often found in polyps harbouring KRAS mutations (p = 0. 0053).

polyps


Input: Future studies are needed to examine the significance of chronic interstitial pneumonitits and UIP pattern in fibrotic sarcoidosis as a potential marker for progressive disease, and the roles of PTGS2 polymorphism in various ethnic groups and Sp1/Sp3 binding in other fibrotic lung diseases.

sarcoidosis


Input: The proliferation of retinal pigment epithelium (RPE) cells resulting from an epithelial-mesenchymal transition (EMT) plays a key role in proliferative vitreoretinopathy (PVR), which leads to complex retinal detachment and the loss of vision.

EMT

retinal detachment


Input: These data suggest that inhibiting TNF & #945; may represent an efficacious approach to mitigating lung injury induced by mustards.

TNF

lung injury

TNF

lung injury


Input: Finally, the treatment of AC16 cells with the HIF-1 inhibitor rotenone in hypoxia inhibited BNP and VEGF release.

VEGF

hypoxia


Input: Germline mutation in MSH6 associated with multiple malignant neoplasms in a patient With Muir-Torre syndrome.

Muir-Torre syndrome

Muir-Torre syndrome


Input: In conclusion, our findings suggest that over-expression of the IL2RG gene may be implicated in altered immune response in schizophrenia and contribute to the pathomechanisms of this disorder.

schizophrenia

schizophrenia


Input: Analysis by cDNA microarray, RT-PCR, and Western blot showed that cell death members of Bcl-2 family, Bcl-2/adenovirus E1B 19-kDa-interacting protein 3 (BNIP3) and its homologue BNIP3-like (BNIP3L), were upregulated in As (2) O (3)-induced autophagic cell death.

adenovirus


Input: In total, 114 lung cancer specimens were included in the study; high expression of ILT4, ANGPTL2 and ANGPTL5 was observed in 58. 8, 45. 6 and 55. 3%, respectively.

lung cancer


Input: Moreover, we validated the role of the BH4 domain of bcl-2 in the regulation of HIF-1/VEGF axis, demonstrating that BH4 peptide is sufficient to increase HIF-1α protein half-life impairing HIF-1α protein ubiquitination, and to enhance VEGF secretion in melanoma cells exposed to hypoxia.

VEGF

hypoxia


Input: HLA-DRB1 * 1501, a subtype of HLA-DR2, has been shown to be closely associated with a good response to cyclosporine (CyA) therapy in patients with aplastic anaemia (AA).

anaemia


Input: Previous studies have shown a highly significant association between sporadic MD and one of the human leukocyte antigen, HLA-C genotypes, whereas disease activity has been related to the detection of enterovirus-specific viral protein (VP1) in the peripheral circulation.

HLA-C

sporadic


Input: For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.

alcohol dependency

alcohol dependency


Input: Most (80%) Par4-null females presented endometrial hyperplasia by 9 months of age, and a significant proportion (36%) developed endometrial adenocarcinomas after 1 year of age.

adenocarcinomas

adenocarcinomas


Input: However, APL and AML with maturation expressed comparable AQP9 levels, suggesting that AQP9 expression was related to granulocytic maturation.

AML with maturation

AML with maturation


Input: These findings suggest a novel regulatory mechanism for CD274 overexpression in gastric cancer mediated by miR-570 and a somatic mutation in CD274 3'-UTR, and provide a new insight to gastric carcinogenesis.

somatic mutation


Input: We have previously reported that intra-arterial administration of recombinant HGF induced angiogenesis in a rabbit hindlimb ischemia model.

HGF

ischemia


Input: Among them, ras-related protein rab-13 (RAB13), neuroblastoma breakpoint family member 10 (NBPF10) and disks large homologue 4 (DLG4) were found to be involved in GBM for the first time.

ras-related protein

neuroblastoma


Input: RESULTS: Higher IGF-I levels among postmenopausal women and an elevated IGF-I: IGFBP-3 ratio among all women were associated with higher TDLU counts, a marker of decreased lobular involution (P-trend = 0. 009 and < 0. 0001, respectively); these associations were strongest among women with elevated mammographic density (P-interaction < 0. 01).

IGF-I

mammographic density


Input: This study examined PLC isozymes of the cardiac sarcolemma (SL) membrane and in the cytosol compartment in isolated perfused rat hearts subjected to global ischemia for 30 min followed by up to 30 min of reperfusion.

PLC

ischemia


Input: Here, we determined the role of the kallikrein-kinin system in the pathogenesis of streptozotocin-induced diabetic nephropathy in wild-type and tissue kallikrein-knockout mice.

tissue kallikrein

diabetic nephropathy

tissue kallikrein

diabetic nephropathy


Input: Unilateral renal artery stenosis increased the plasma renin concentration and blood pressure in both the wild-type and the Cx45 knock-in mice but not in the Cx40 knockout mice.

renal artery stenosis


Input: We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies.

Noonan syndrome

Noonan syndrome


Input: The degree of cord atrophy was more prominent in patients with SPG6 and SPG8 who had signs of severe cord atrophy (47. 60 +/-6. 58 mm2 at C2, 21. 40 +/-2. 4 mm2 at T9) than in subjects with SPG3 and SPG4 (66. 0 +/-8. 94 mm2 at C2, p < 0. 02; 31. 75 +/-2. 76 mm2 at T9, p < 0. 001).

atrophy


Input: The present study suggests that the-1021C/T DBH polymorphism affects the personality trait of harm avoidance in healthy females.

DBH

personality trait


Input: Here we show that patients with COPD fail to induce HIF-1α and VEGF under hypoxic condition because of a reduction in histone deacetylase (HDAC) 7.

VEGF

hypoxic


Input: Results demonstrate that quercetin, a natural flavonoid, restores TRAIL-induced cell death in resistant transformed follicular lymphoma B-cell lines, despite high Bcl-2 expression levels due to the chromosomal translocation t (14; 18).

chromosomal translocation


Input: In this model, we observed reduced systemic IL-10 levels, local IFN-γ gene transcripts, as well as mild mast cell infiltration into the psoriatic lesions of the mice.

mild


Input: The p53-PRO/PRO genotype was more frequent in the U. S. POAG patients with early visual field defects in the paracentral regions compared with those in the peripheral regions or control group (p = 2. 7 × 10 (-5)).

visual field defects


Input: The aim of this study was to examine the impact of parental type 2 diabetes on the autonomic nervous system and to determine whether autonomic neuropathy is present and associated with changes in 24-h ambulatory blood pressure (AMBP) and urinary albumin excretion rate (UAER) in nondiabetic subjects with parental type 2 diabetes.

AMBP

autonomic neuropathy


Input: We identified 69 candidate genes, including genes involved in biliary transport (ATP8B1 and ABCB11), glucose, carbohydrate and lipid metabolism (FADS1, FADS2, GCKR, JMJD1C, HNF1A, MLXIPL, PNPLA3, PPP1R3B, SLC2A2 and TRIB1), glycoprotein biosynthesis and cell surface glycobiology (ABO, ASGR1, FUT2, GPLD1 and ST3GAL4), inflammation and immunity (CD276, CDH6, GCKR, HNF1A, HPR, ITGA1, RORA and STAT4) and glutathione metabolism (GSTT1, GSTT2 and GGT), as well as several genes of uncertain or unknown function (including ABHD12, EFHD1, EFNA1, EPHA2, MICAL3 and ZNF827).

inflammation


Input: AGS, MKN1, MKN28 gastric cancer cells and HFE-145 immortalized non-neoplastic gastric mucosal cells were transfected with GKN1 or shGKN1.

non-neoplastic


Input: Characterization of mutations in MTP causing abetalipoproteinemia has revealed that the central & #945;-helical and C-terminal & #946;-sheet domains are important for protein disulfide isomerase binding and lipid transfer activity.

MTP

abetalipoproteinemia

MTP

abetalipoproteinemia


Input: Follicular lymphoma is characterized by chromosomal translocation involving BCL2 and immunoglobulin heavy chain genes (IgH).

chromosomal translocation


Input: The FISH probe was hybridized on different samples of 16 patients with leukemia (3 T-ALL, 13 CML) and normal controls.

FISH

leukemia


Input: FLG mutations were associated with an increased risk of atopic dermatitis (OR 3. 3, CI 2. 1-5. 3), dermatology consultations for allergy or rash (HR 2. 2, CI 1. 4-3. 5), basic dermatology consultations at age < 5 years (HR 2. 2, CI 1. 7-2. 9), urticaria at age < 18 months (OR 2. 9, CI 1. 0-7. 9), and other rash at age < 18 months (OR 2. 1, CI 1. 2-3. 8).

FLG

rash


Input: The exogenous miR-363 promotes growth, viability, progression, epithelial-mesenchymal transition and tumorsphere formation of SC-M1 gastric cancer cells through downregulation of MBP-1, whereas the knockdown of endogenous miR-363 suppresses tumorigenesis and progression of SC-M1 cells via upregulation of MBP-1.

tumorigenesis


Input: Using a combination of immunohistochemical studies [cytokeratins 7 and 20, E-cadherin, beta-catenin, p53, MLH-1, MSH-2, MSH-6, and O6-methylguanine methyltransferase (MGMT)], DNA sequencing [beta-catenin, adenomatous polyposis coli (APC), p53, KRAS, and BRAF], and a polymerase chain reaction-based microsatellite instability assay; we assessed each case for abnormalities in the Wnt signaling and mitogen-activated protein kinase pathways and DNA repair mechanisms.

E-cadherin

microsatellite instability


Input: A D/D (deletion/deletion) polymorphism within the ACE (angiotensin 1-converting enzyme) gene increases the risk of microalbuminuria, a predictor of atherosclerotic vascular disease, in essential hypertension.

ACE

microalbuminuria


Input: Thus, increasing Nrf2 translocation by DJ-1 may represent a novel means for GI protection.

translocation


Input: Samples of sectors CA3/2 and CA1 were obtained from patients with schizophrenia, patients with bipolar disorder, and healthy controls.

bipolar disorder


Input: Importantly, reversing the build-up of histone deacetylase 2 by short-hairpin-RNA-mediated knockdown unlocks the repression of these genes, reinstates structural and synaptic plasticity, and abolishes neurodegeneration-associated memory impairments.

histone deacetylase 2

neurodegeneration


Input: Transfection of miR-7 into glioma cell lines causes inhibition of cell migration and invasion and suppression of tumorigenesis.

tumorigenesis


Input: CONCLUSION: In contrast to patients suffering from migraine with aura and without aura, CGRP infusion did not induce more migraine-like attacks in FHM patients without known mutations compared to controls.

CGRP

aura


Input: Starvation of rats increases serum corticosterone concentration, lipolysis, tryptophan availability to the liver, tryptophan pyrrolase activity and liver [NADP (H)]. Glucose prevents all these changes. 3.

tryptophan pyrrolase

Starvation

tryptophan pyrrolase

Starvation


Input: Taken together, we conclude that newly synthesized mouse OTC enzyme was efficiently imported into mitochondria following vector-mediated gene delivery in spf (ash) mice, correcting secondary metabolic alterations.

OTC

secondary


Input: 14-3-3 isoform expression was determined by real-time quantitative PCR in laser capture normal pancreatic ductal cells and pancreatic cancer cells and in 5 pancreatic cancer cell lines.

pancreatic cancer


Input: The translocated and normal bcl-2 alleles in the DHL-4 cell line with the t (14; 18) translocation were separated by pulsed field electrophoresis.

translocation


Input: Prolonged use of IDE inhibitors for T2DM treatment should be carefully tested in animal studies regarding its potential effect on hepatic tumorigenesis.

IDE

tumorigenesis


Input: We combined clinical data, in silico effect predictions and functional analysis of four L1CAM variants, p. I37N, p. T38M, p. M172I and p. D202Y, located to the two N-terminal Ig-like domains present in five families with symptoms of L1 syndrome.

L1 syndrome

L1 syndrome


Input: Direct sequencing was carried out on the 6 unknown alleles, and a novel amber mutation in a beta 0-thalassemia gene (beta 37TGG--> TAG) was found in one of them.

TAG

thalassemia


Input: Internal tandem duplication was correlated with higher white blood cell and blast counts, lactate dehydrogenase, relapse-risk score, fever, hemorrhage, coagulopathy, BCR3 isoform, M3 variant subtype, and expression of CD2, CD34, human leukocyte antigen-DR, and CD11b surface antigens.

hemorrhage


Input: In stratified regression models including demographical and disease-related factors as covariates, 96 single nucleotide polymorphisms (SNPs) in 16 candidate genes related to opioid-or nausea/vomiting signalling pathways (ABCB1, OPRM1, OPRK1, ARRB2, STAT6, COMT, CHRM3, CHRM5, HRH1, DRD2, DRD3, TACR1, HTR3A, HTR3B, HTR3C, CNR1) were analysed for association with nausea and vomiting.

nausea and vomiting


Input: Upregulation of CRTC1 enhancing CREB-dependent gene transcription in spinal cord may play an important role in bone cancer pain.

cancer pain


Input: The lung cancer tissue and resection margin contained many folds larger amounts of immunoreactive gastrin than intact bronchial mucosa.

gastrin

lung cancer

gastrin

lung cancer


Input: Polyurethane-short branch PEI (PU-PEI)-based administration of double-stranded DNA (dsDNA) encoding small interfering RNA (siRNA) against EZH2 and Oct4 (siEZH2/siOct4) led to partial anti-cancer capacity and mild suppression of CSC-like properties.

mild


Input: We report a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes.

relative macrocephaly


Input: In vivo studies indicated that NOR decreased the number of OCs and ameliorated the bone erosion in the joints of rats with collagen-induced arthritis, accompanied by the up-regulation of CYP1A1 and the down-regulation of VEGF mRNA expression in the synovium of rats.

VEGF

collagen-induced arthritis

VEGF

collagen-induced arthritis


Input: There was, however, clear evidence that VG1, like AG1, could induce spondylitis in the lumbar spine and sacroiliitis.

spondylitis


Input: OBJECTIVE: To investigate whether glutamine deprivation induces expression of inflammatory cytokine interleukin-8 (IL-8) by determining NF-κB activity and levels of oxidative indices (ROS, reactive oxygen species; hydrogen peroxide; GSH, glutathione) in fibroblasts isolated from patients with ataxia telangiectasia (A-T).

NF-κB

telangiectasia


Input: Univariate analysis suggested potential associations of severe OXCPN with rs843748 in ACYP2 and rs17140129 in FARS2, as well as with the absence of diabetes mellitus (DM) (p = 0. 056, 0. 072, and 0. 029, respectively).

diabetes mellitus


Input: The involvement of Met, p42/p44 MAPKinases and Stat3 in PAR (2)-mediated PCCA cell signaling was further supported by the findings that trypsin and the PAR (2)-selective agonist peptide, 2-furoyl-LIGRLO-NH (2), stimulated activating phosphorylation of these signaling molecules in cholangiocarcinoma cells.

PCCA

cholangiocarcinoma


Input: Here, we examined 33 candidate polymorphisms located in 11 pigmentation genes and the vitamin D receptor gene (VDR) in a population of 130 cutaneous melanoma patients and 707 healthy controls.

VDR

pigmentation


Input: Treatment by the PPARγ ligand rosiglitazone, but not PI3K modulators, rescued colorectal glandular dysmorphogenesis of PTEN deficiency.

PPARγ

dysmorphogenesis


Input: Of the 59 tumors analyzed, 12 were FUS/CREB3L2-positive, all of which were diagnosed at histopathologic re-examination as being LGFMS, of both the classical subtype and the subtype with giant collagen rosettes.

FUS

giant


Input: The estimation of typical GLUT isoforms present on the peripheral blood lymphocytes, as well as the evaluation of insulin resistance indicators, are obviously insufficient for monitoring the metabolic disorders progression in the risk groups of type 2 diabetes.

GLUT

insulin resistance


Input: FHH1, caused by mutations of the calcium-sensing receptor (CASR), occurs in more than 65% of patients, whereas the abnormalities underlying FHH2 and FHH3, which have each been described in single North American kindreds, are unknown.

abnormalities


Input: In the TCGA, miR-106a was significantly elevated in high-grade human prostate tumors relative to intermediate-and low-grade specimens.

prostate tumors

prostate tumors


Input: EGFR activation results in a series of downstream signaling events that mediate cancer cell growth, proliferation, motility, adhesion, invasion, apoptosis inhibition and metastasis as well as resistance to chemotherapy.

EGFR

adhesion


Input: A relationship may exist between these two types of teratogenesis due to the role of ADH in both retinol and ethanol metabolism and the ability of ethanol to competitively inhibit retinol oxidation.

ADH

teratogenesis


Input: In addition, conditioned medium of HO-1 +/+ MSC rescued functional and morphological changes associated with cisplatin-induced AKI, while the HO-1-/--conditioned medium was ineffectual.

AKI

AKI


Input: We previously reported that a gene in linkage disequilibrium with HLA-Bw54, DR4, and DRw53 might control the susceptibility to silicosis (K. Honda et al.

silicosis


Input: Methylation in 3 genes emerged as genome-wide-significant predictors of depression: DNA-Binding Protein Inhibitor ID-3 (ID3); Glutamate Receptor, Ionotropic N-methyl-D-aspartate (NMDA) 1 (GRIN1); and Tubulin Polymerization Promoting Protein (TPPP) (p < 5. 0 × 10 (-7), all analyses).

TPPP

depression


Input: VEGF expression in metastatic renal cell carcinoma (mRCC) is mostly regulated by hypoxia, predominantly via the hypoxia-induced factor (HIF)/Von Hippel-Lindau (VHL) pathway.

VEGF

hypoxia


Input: In this report, we investigate three siblings affected by an unusually mild form of localized recessive dystrophic epidermolysis bullosa who were shown to be compound heterozygotes for novel mutations affecting COL7A1.

recessive dystrophic epidermolysis bullosa

recessive dystrophic epidermolysis bullosa


Input: Our results characterize two genes associated with PCD-causing mutations and elucidate two distinct mechanisms critical for motile cilia function: dynein arm assembly for C21orf59 and assembly of the nexin-dynein regulatory complex for CCDC65.

PCD

PCD


Input: FISH and spectral karyotyping (SKY) in conjunction with G-banding analysis revealed a der (1) t (1; 17) (p36; q21) chromosomal translocation, which appeared in the clone developed from the original leukemic cells.

SKY

chromosomal translocation


Input: Thus, an increased adipose/muscle LPL ratio would partition dietary lipid into adipose tissue and would explain some of the variability in weight gain when humans are exposed to excess calories.

LPL

weight gain


Input: An adenovirus (Ad-stTRAIL) delivering stTRAIL was injected into intra-cranial human glioma tumors established in nude mice and tumor growth monitored using the magnetic resonance imaging (MRI).

MRI

adenovirus


Input: Coincidentally, hypoxia-induced factor-1α (HIF1α) and vascular endothelial growth factor (VEGF) mRNA were significantly higher in EH-CA1a cells than in EH-CA1b cells.

VEGF

hypoxia


Input: Our preliminary data suggest that the clinical utility of FISH assay of chromosomes 3, 7, 9, and 17 as a noninvasive ancillary test for the diagnosis of UUT-TCC in a selected patient population with asymptomatic hematuria and negative urine cytology and by significant high sensitivity and specificity may be a reliable diagnostic approach for early detection of UUT-TCC patients.

FISH

asymptomatic


Input: Such findings highlight the role of downregulation of RFC and FBP expression and provide mechanistic insight into the observed reduced folate transport efficiency at renal absorptive surfaces in alcoholism, which may result in low blood folate levels commonly observed in alcoholics.

FBP

alcoholism

FBP

alcoholism


Input: Similar excess adhesion was observed with CX3CR1-IM-transfected human embryonic kidney (HEK) cell lines tested with two different methods: the parallel plate laminar flow chamber and the dual pipette aspiration technique.

HEK

aspiration


Input: Moderate weight reduction did not change gene expression levels of the GIPR gene (p = 0. 085).

GIPR gene

weight reduction


Input: Thus, we conducted a case-control study including 1064 breast cancer cases and 1073 cancer-free controls to evaluate the associations of 28 potentially functional polymorphisms in 12 core ARSs genes (AARS, CARS, EPRS, HARS, KARS, LARS, MARS, QARS, RARS, VARS, WARS, and YARS) with breast cancer risk.

LARS

breast cancer


Input: In order to determine the subunit composition of COX immunoblotting studies were performed using mono-and polyclonal antibodies to distinct subunits.

COX

mono


Input: A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.

congenital contractural arachnodactyly

congenital contractural arachnodactyly


Input: ACTH-(1-24) antagonizes the cholestatic and constipating effects of morphine.

ACTH

constipating

ACTH

constipating


Input: No abnormalities involving tyrosine kinases were detected; however, nine cytogenetically cryptic copy number imbalances were detected in seven patients, including hemizygous deletions of RUNX1 or CEBPA in two cases with atypical chronic myeloid leukemia.

CEBPA

abnormalities


Input: A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.

osteogenesis imperfecta type V

osteogenesis imperfecta type V


Input: The objective was to assess the functional significance of 25-hydroxyvitamin D [25 (OH) D] deficiency, vitamin D receptor (VDR) gene, and parathyroid hormone (PTH) gene polymorphisms in relation to bone mineral density (BMD) in urban Asian Indians.

PTH

bone mineral density


Input: most significantly induced HLJ1 expression and suppressed tumorigenesis both in vitro and in vivo.

tumorigenesis


Input: Because 5-HT induces release of S100beta, we investigated the codependence of 5-HT receptors and SERT in regulating S100A4/Mts1 in human pulmonary artery smooth muscle cells (hPA-SMC).

codependence