Input: Mutations in isocitrate dehydrogenase 1 and 2 (IDH1/2) have been discovered in several cancer types and cause the neurometabolic syndrome D2-hydroxyglutaric aciduria (D2HGA).

aciduria


Input: Ectopic overexpression of Aurora B induced a significant increase inthe proportion of multinucleated cells in p53 mutant U373-MG, but not in p53 wild-type U87-MG, glioma cells.

glioma


Input: Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein.

Seborrhea-like dermatitis with psoriasiform elements

Seborrhea-like dermatitis with psoriasiform elements


Input: BL-like tumor cells harbored amplified c-MYC genes with BCL-2/IgH translocation, but FL-like cells solely had BCL-2/IgH translocation.

translocation


Input: We show both in vitro and in vivo that miR-130b overexpression along with DICER1 dysfunction leads to tumor aggression and miRNA synthesis abnormalities that are related to cancer hallmarks through DICER1-miRNAs axis modulation.

aggression


Input: FBLN5 and LTBP4 mutations cause a very similar phenotype associated with severe pulmonary emphysema, in the absence of vascular tortuosity or aneurysms.

vascular tortuosity


Input: We previously demonstrated that CD151 forms a functional complex with c-Met and integrin alpha3/alpha6 in human salivary gland cancer cells.

salivary gland cancer


Input: The present study was undertaken to determine whether GGT is a marker of bone resorption in two genetic models of hyper-and hypo-function of osteoclasts, as well as in postmenopausal women with accelerated bone resorption, using type I collagen N-telopeptide (NTX) and deoxypyridinoline (DPD) as established biochemical markers.

GGT

bone resorption


Input: The SNP (rs3995090) in HTR4 was associated with COPD (adjusted P = 0. 022) in never-smokers, and the SNP (rs2070600) in AGER was associated with forced expiratory volume in 1 s (FEV1%) predicted (β =-0. 066, adjusted P = 0. 016) and FEV1/forced vital capacity (β =-0. 071, adjusted P = 0. 009) in all subjects.

vital capacity


Input: The accumulated mucin in non-Gottron' s dermatomyositis (DM) lesions is primarily chondroitin-4-sulfate (C4S), which is immunomodulatory in vitro.

dermatomyositis


Input: In the past year, mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesia and other paroxysmal disorders.

paroxysmal kinesigenic dyskinesia

paroxysmal kinesigenic dyskinesia


Input: Our results strongly suggest that defects in the DHCR7 gene cause the SLOS.

SLOS

SLOS


Input: When integrated with previously published Affymetrix array data from human multiple myelomas, the IL-6-transgenic subset of mouse plasma cell tumors clustered more closely with MM1 subsets of human myelomas, slow-appearing plasma cell tumors clustered together with MM2, while plasma cell tumors accelerated by v-Abl clustered with the more aggressive MM3-MM4 myeloma subsets.

myeloma


Input: Furthermore, we found that the expression level of either H19 or miR-675 in P69 cells was negatively associated with the expression of transforming growth factor β induced protein (TGFBI), an extracellular matrix protein involved in cancer metastasis.

metastasis


Input: On the other hand, 19% of patients with haemophilia with B19 PCR negative synovial tissue and 21% of controls showed anti-NS1 antibodies.

haemophilia


Input: Protease activated receptor-2 (PAR-2) has been implicated in cellular proliferation, invasion and metastasis with angiogenesis in various tumors.

PAR

metastasis


Input: There is a plethora of studies examining the pro-tumorigenic functions of carcinoembryonic antigen (CEA), but its receptor CEAR is far less studied.

CEA

plethora


Input: These results imply that subchronic MK-801 administration during adolescence might disturb the expression of RhoA, Rac1 and Cdc42 mRNA, and then lead to the decay of the spines in hippocampus, which could be involved in cognitive impairments in schizophrenia.

schizophrenia

schizophrenia


Input: We demonstrated that rosiglitazone, a synthetic agonist of the peroxisome proliferator-activated receptor-γ (PPARγ), attenuated hypoxia-induced pulmonary hypertension, vascular remodeling, Nox4 induction, and reactive oxygen species generation in the mouse lung.

PPARγ

hypoxia


Input: Based on these data, we postulate that increased axonal mRNA transport results in accumulation of functional NaV1. 8 protein in the injured nerve and the development of painful neuropathy symptoms.

NaV1. 8

neuropathy


Input: Nonsyndromic cleft lip and palate (CLP) is among the most common human birth defects.

CLP

birth defects


Input: In conclusion, SNAT2 not only regulates mTOR but also regulates proteolysis through PI3K and provides a link among acidosis, insulin resistance, and protein wasting in skeletal muscle cells.

insulin resistance


Input: We tested the ability of a mutant FOXO1 factor that is not subject to Akt phosphorylation to overcome dysregulated PI3K-Akt signaling in two PTEN-null glioma cell lines, U87 and U251.

glioma


Input: The Fat Mass and Obesity-Associated Protein (FTO) gene rs9939609 single nucleotide polymorphism (SNP) has been associated with obesity, metabolic syndrome, insulin resistance (IR), and type 2 diabetes mellitus in the general population.

FTO

insulin resistance


Input: The erythrocyte sedimentation rate and concentrations of serum IgA and serum beta2 microglobulin were lower in pSS patients carrying the IL4-590 T allele or the IL13 + 2044 A allele than in those not carrying the respective alleles.

erythrocyte sedimentation rate


Input: We investigated the extent of, and basis for, abnormalities in the flicker electroretinogram (ERG) of the cone system of patients with X-linked retinoschisis (XLRS), a form of hereditary vitreoretinal degeneration.

ERG

abnormalities


Input: Mutations of the cationic trypsinogen in hereditary pancreatitis.

cationic trypsinogen

hereditary pancreatitis

cationic trypsinogen

hereditary pancreatitis


Input: EGFR inhibition or activation strongly affected 231-BR cell migration/invasion activities as assessed by an adhesion assay, a wound-healing assay, a Boyden chamber invasion assay, and cytoskeleton staining.

EGFR

adhesion


Input: In this study, U87 cells (a human glioma cell line) and primary glioma cells were prepared.

glioma


Input: In this study, we have conducted a single-strand conformation polymorphism (SSCP) analysis of the entire coding region of FGD1 in 46 AAS patients and identified eight novel mutations, including one insertion, four deletions and three missense mutations (19. 56% detection rate).

AAS

AAS


Input: The majority of HBP/vigilin-expressing macrophages were foam cells, but HBP/vigilin expression also was detected rarely in nonfoam cell macrophages.

vigilin

foam cells


Input: Treatment of PHC markedly decreased TNF-α, IL-6, NOx, SOD, MDA content, protein concentration in BALF, and lung wet/dry weight ratio and enhanced SOD activity (p < 0. 05), which are indicative of PHC-induced suppression in the pathogenesis of ARDS caused by sepsis.

PHC

sepsis


Input: These findings support a novel paradigm in which WT1 induces an epithelial-mesenchymal hybrid transition (EMHT), characterized by Snail up-regulation with E-cadherin maintenance, a tumor cell differentiation state in which cancer cells keep both EMT and MET characteristics which may promote tumor cell plasticity and tumor progression.

EMT

tumor progression


Input: It was suggested that TGF-beta2, PCNA and FN might take important parts in the process of age-related cataract.

PCNA

age-related cataract


Input: More over, BCC1 cells overexpress the basal cell carcinoma-specific genes ptch and ptch2.

basal cell carcinoma


Input: Acting in multiple central processes like double-strand break repair, centrosome replication, and checkpoint control, BRCA1 participates in maintaining genomic integrity and protects the cell against genomic instability.

genomic instability


Input: In hippocampus, lower mRNA levels of TrkA and TrkC were observed in suicide subjects.

TrkC

suicide


Input: Expression of vascular endothelial growth factor (VEGF) is up-regulated during hypoxia by hypoxia-inducible factor-1α (HIF-1α).

VEGF

hypoxia


Input: This study supports an active role for PLZF and RARalpha-PLZF in leukemogenesis, identifies up-regulation of CRABPI as a mechanism contributing to retinoid resistance, and reveals the ability of the reciprocal fusion gene products to mediate distinct epigenetic effects contributing to the leukemic phenotype.

CRABPI

leukemogenesis


Input: The highest rates of somatic, non-synonymous mutations were found in GNG10 and GNAZ, neither of which has been previously reported to be mutated in melanoma.

GNAZ

melanoma


Input: Here we used NPSR1 gene-targeted mice to define the functional role of NPSR1 under basal conditions on locomotion, anxiety-and/or depression-like behavior, corticosterone levels, acoustic startle with prepulse inhibition, learning and memory, and under NPS-induced locomotor activation, anxiolysis, and corticosterone release.

NPS

depression

NPS

depression


Input: FDRs had significantly lower VO (2max) than control subjects: 40. 5 +/-0. 6 vs. 45. 2 +/-0. 9 ml O (2)/kg lean body mass, P = 0. 01 after adjusting for sex, age, BMI, HPA, and insulin sensitivity (euglycemic-hyperinsulinemic clamp).

HPA

insulin sensitivity


Input: These data correlate with our previous findings that pro-EGF gene expression is decreased in human renal carcinoma and support the concept that low-molecular-weight urinary EGF is derived from high-molecular-weight kidney pro-EGF.

EGF

weight


Input: Among particular gene polymorphisms posited to be involved in psychiatric disorders, the catecholamine-O-methyltransferase (COMT) and serotonin transporter (5-HTTPR) genes have been the focus of recent research on aggression.

serotonin transporter

aggression


Input: Multiple iPS cell lines were also generated from peripheral blood CD34 (+) cells of 2 patients with myeloproliferative disorders (MPDs) who acquired the JAK2-V617F somatic mutation in their blood cells.

somatic mutation


Input: We conclude that FISH would refine the analysis of N-myc amplification in neuroblastoma and thus improve the assignment of patients to prognostic groups based on this unfavorable risk factor.

FISH

neuroblastoma


Input: Here we identify MUSK as a novel cause of lethal FADS.

MUSK

FADS

MUSK

FADS


Input: Clinicopathological study indicated that R-cadherin was dominantly expressed on cell surface of normal gastric epithelium, and its expression deletion in gastric cancer tissues was associated with tumor site, differentiation, lymph node metastasis, and pTNM (chi-square test, P < 0. 05).

R-cadherin

lymph node metastasis


Input: In addition, we detect increased Pak1 phosphorylation in human atherosclerotic arteries, suggesting its role in human atherogenesis.

atherogenesis


Input: A break point 184 kb upstream of the paternally derived IGF2 gene, separating it from some telomeric enhancers, resulted in reduced expression in some mesoderm-derived adult tissues causing intrauterine growth retardation, short stature, lactation failure, and insulin resistance with altered fat distribution.

IGF2 gene

insulin resistance


Input: The mutator pathway implied in the development of colorectal cancer is characterized by microsatellite instability (MSI), which is determined by alterations of mismatch repair (MMR) genes.

MMR

microsatellite instability


Input: These results suggest that mutations affecting the ligand binding domain of the androgen receptor are the most frequent cause of AIS, although some cases of PAIS may be the result of other, as yet undefined, genetic lesions.

androgen receptor

AIS

androgen receptor

AIS


Input: Increased expression of CYSLTR1 with CYLSTR1 and CYSLTR2 polymorphisms are new findings in AIA, while the ALOX5 promoter polymorphism has been noted in AIU.

AIA

AIA


Input: Cell adhesion molecule abnormalities such as those involving CDH1 may play an important role in diffuse-type gastric cancer development.

abnormalities


Input: In contrast, EphB4 mRNA expression was modulated during normal retinal development and was altered by hyperoxia.

hyperoxia


Input: Furthermore, we found that higher levels of ASPP1 were associated with adenovirus-mediated overexpression of E2F1 while siRNA-mediated E2F1 knockdown led to down-regulation of ASPP1.

adenovirus


Input: We present here for the first time quantitative data on the mineral density of bones of pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K. The elevated bone mineral density in the cortex and the changes in the serum markers suggest an effect of cathepsin K not only on bone volume, but also on bone mineralization.

cathepsin K

bone mineral density


Input: With locus-specific FISH, NAV3 deletions were found in the skin lesions of four of eight (50%) patients with early mycosis fungoides (stages IA-IIA) and in the skin or lymph node of 11 of 13 (85%) patients with advanced mycosis fungoides or Sézary syndrome.

FISH

skin lesions


Input: We showed that Foxp3 (+) Treg depletion induced partial regression of established ovalbumin (OVA)-expressing B16 melanoma, which was associated with an increased intratumoral accumulation of activated CD8 (+) cytotoxic T cells.

regression


Input: Transcripts for IL-10 were detected in 11/20 patients with non-progressive disease.

non-progressive


Input: The Spanish HPP consortium has developed a B/D platform with five programs focused on selected medical areas: cancer, obesity, cardiovascular, infectious and rheumatic diseases.

HPP

obesity


Input: The PLXNA2 ligand semaphorin 3A has been shown to be upregulated in the cerebellum of individuals with schizophrenia.

semaphorin 3A

schizophrenia

semaphorin 3A

schizophrenia


Input: Although breast cancer screening with mammography and magnetic resonance imaging (MRI) is recommended for breast cancer-susceptibility gene (BRCA) mutation carriers, there is no current consensus on the optimal screening regimen.

MRI

breast cancer


Input: The strongest evidence for a role of EGFR in the biology of glioblastoma stems from clinical trials in which 15-20% of recurrent glioblastoma patients experienced significant tumour regression in response to these small-molecule EGFR kinase inhibitors.

EGFR

regression


Input: Using ChIP-chip analysis, we identified cell migration and adhesion genes, including Tsp-1/THBS1, ING4, PVRL3, and PPAP2B, as Myc-bound loci in medulloblastoma cells.

medulloblastoma


Input: These results showed that ErbB3 but not Fgfr1 mRNA levels were reduced in leukocytes of MDD patients compared to healthy subjects.

MDD

MDD


Input: The genotype and allele frequencies of the MTR Asp919Gly, MTHFR Ala222Val, MTHFD1 Arg653Gln and MTRR Ile22Met gene variants did not display statistical differences between patients with cervical cancer and controls.

cervical cancer


Input: Whether hypoxia can induce EMT by stimulating RPE cell line secrets TGF-β2 or not remains unknown.

RPE

hypoxia


Input: In this study, by using polymerase chain reaction and fluorescence in situ hybridization techniques, we have showed that there is neither t (14; 18)/IGH-BCL2 nor IGH gene rearrangement in 4 de novo IDCS without a concurrent or known history of a B-cell lymphoma, including follicular lymphoma, indicating that BCL2 chromosomal translocation is not a general feature of de novo IDCS.

chromosomal translocation


Input: Expression analysis of all protease genes reveals cathepsin K to be overexpressed in glioblastoma.

cathepsin K

glioblastoma

cathepsin K

glioblastoma


Input: EPHX1 and GSTP1 variants contribute to the occurrence of childhood asthma and increase asthma susceptibility to exposures from major roads.

asthma susceptibility


Input: MALT1 is deregulated by both chromosomal translocation and amplification in B-cell non-Hodgkin lymphoma.

chromosomal translocation


Input: Collectively, our results indicated that BMP9/ALK1 augmented vasculogenesis and angiogenesis, and thereby enhanced neovascularization.

neovascularization


Input: PTEN inactivation may potentially lead to an aggressive behavior of tumor cells through stimulation of tumor cell proliferation.

PTEN

aggressive behavior


Input: C20-D3-vitamin A slows lipofuscin accumulation and electrophysiological retinal degeneration in a mouse model of Stargardt disease.

Stargardt disease

retinal degeneration


Input: The presence of PAX3-FOXO1 in SNS and alveolar rhabdomyosarcoma suggests that these two entities are genetically similar lesions arising from distinct progenitor cell pools.

SNS

alveolar rhabdomyosarcoma


Input: Further, several genome scans for mood disorders, both unipolar and bipolar, have indicated linkage to the chromosomal regions of 5q23-q33. 3, 8p12-p11. 2, 4p16, and 10q24-q26, the location of the adrenergic receptors alpha1B (ADRA1B), beta3 (ADRB3), alpha2C (ADRA2C), alpha2A (ADRA2A), and beta1 (ADRB1).

mood disorders

mood disorders


Input: In contrast to AAV-mediated Cntf expression, AAV-mediated Gdnf expression enhances gene replacement therapy in rodent models of retinal degeneration.

AAV

retinal degeneration


Input: Unlike cancers, wounds naturally resolve via blood vessel regression and ECM maturation, which are essential for reestablishing tissue homeostasis.

ECM

regression


Input: We investigated the effects of Nov overexpression by transducing murine ST-2 stromal and MC3T3 osteoblastic cells with a retroviral vector where Nov is under the control of the cytomegalovirus promoter.

cytomegalovirus


Input: In 1833 cells, TGF-β and hypoxia increased Endothelin-1 release, altogether reducing invasiveness important for engraftment, while Endothelin-1 enhanced MDA-MB231 cell invasiveness.

TGF-β

hypoxia


Input: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) (MIM #604004) is a rare autosomal recessive neurological disorder characterized by macrocephaly, motor and cognitive decline, ataxia, spasticity and occasional seizures.

MIM

neurological disorder


Input: AR HIBM is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) on chromosome 9p12-13.

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

HIBM

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

HIBM


Input: To improve detection of DNA aneuploid subpopulations and particularly estimation of their SPF' s we investigated a method for bivariate DNA/cytokeratin analysis on fine-needle aspirates of 728 frozen biopsies from 157 colorectal tumors.

SPF' s

colorectal tumors


Input: Both in Barett' s metaplasia and in SCC the expression of MUC5AC mirrors the TFF1 synthesis in intensity and spatial distribution.

metaplasia


Input: To dissect the potential role of Cdh1/APC in tumorigenesis through the degradation of Skp2, we analyzed the Cdh1/APC-Skp2-p27 axis in colorectal tumorigenesis using a human tumor array and biochemical analyses.

tumorigenesis


Input: Given the biological role of the neuronal nicotinic acetylcholine receptors and the substantial comorbidity of nicotine dependence in psychiatric disorders, the CHRNA2 gene is a plausible candidate gene for bipolar disorder (BPD).

bipolar disorder

bipolar disorder


Input: We studied a family with autosomal dominant MED affecting predominantly the knee joints and a mild proximal myopathy.

MED

mild


Input: Growth-suppressing function of glypican-3 (GPC3) via insulin like growth factor II (IGF-II) signaling pathway in ovarian clear cell carcinoma cells.

IGF-II

clear cell carcinoma


Input: Three cervical cancer cell lines with extremely low level of RAR-beta2 mRNA expression, SiHA, HeLA and CaSki, also showed methylation of this region of the RAR-beta2 gene.

RAR

cervical cancer


Input: The TAM family of receptor tyrosine kinases (TYRO3, AXL and MERTK) have been implicated as important players during demyelination in both animal models of MS and in the human disease.

AXL

demyelination


Input: Androgen insensitivity syndrome is an X-linked disorder of sexual differentiation resulting from abnormalities of the androgen receptor gene.

androgen receptor

Androgen insensitivity syndrome

androgen receptor

Androgen insensitivity syndrome


Input: Overexpression of Sall1 in vivo leads to reduced body weight without affecting kidney development.

body weight


Input: SOX2 overexpression correlates with aggressive behavior and poor overall survival in cholangiocarcinoma (CCA).

aggressive behavior


Input: We have studied the coding regions of the DCX gene in 11 Japanese patients with cortical dysplasia and have identified three different mutations (R186C in exon 3, R272X and R303X in exon 5) in four sporadic female cases.

DCX gene

sporadic


Input: LIF secretion and LIFR expression were assessed in established and primary human cholangiocarcinoma cell lines.

LIFR

cholangiocarcinoma


Input: Pharmacological doses of rhGH can increase R (T) and GHR mRNA expression, ameliorate liver functions, repress fibrosis and decline portal hypertension, suggesting it has potentially clinical usage as a hepatotropic factor.

GHR

portal hypertension


Input: In MD, a recurrent P799L mutation was identified in nine subjects, as well as 10 novel mutations including F471del, the first deletion mutation of TRPV4.

MD

MD


Input: Angiotensin II appears to increase sensitivity to heat by an ischaemic mechanism, whereas an additional non-vascular influence contributes to thermal hyperalgesia induced by noradrenaline and vasopressin.

Angiotensin II

thermal hyperalgesia

Angiotensin II

thermal hyperalgesia


Input: Contribution of Common Variants in GABRG2, RELN and NRG3 and Interaction Networks to the Risk of Hirschsprung Disease.

RELN

Hirschsprung Disease

RELN

Hirschsprung Disease


Input: The present results support the hypothesis that immediate hypotension induced by captopril involves a prostaglandin-dependent component possibly resulting from increased bradykinin levels generated in the vicinity of captopril action.

bradykinin

hypotension

bradykinin

hypotension


Input: Thus, the 5-HT (4) receptor binding was decreased in the Flinders Sensitive Line depression model and in response to chronic paroxetine administration.

5-HT (4

depression

5-HT (4

depression


Input: Methods We screened for mutations in the coding and promoter regions of genes in the TNF-LTA region, including BAT1, NFKBIL1, LTA, TNF, LTB, AIF, and BAT2, and conducted a transmission disequilibrium test of 41 polymorphisms in 137 families identified through pro-bands with childhood-onset atopic asthma.

AIF

atopic asthma


Input: Identification of RP1L1 mutations as causative for OMD has potentially broader implications for understanding the differential cone photoreceptor functions in the fovea and the peripheral retina.

OMD

OMD


Input: Given that mucosal surfaces are particularly prone to hypoxia-elicited inflammation, we sought to determine the function of netrin-1 in hypoxia-induced inflammation.

hypoxia


Input: We propose that in some cases of trisomy for the SHOX gene, the effect of overdosage per se may affect the stature, even in patients with preserved ovarian function (case 1), and that estrogen deprivation may not always be a contributor for tall stature (case 2).

SHOX gene

tall stature


Input: To determine the degree of agreement between fluorescence in situ hybridization (FISH), Southern blot analysis and LightCycler monoplex polymerase chain reaction (PCR) analysis in the assessment of NMYC gene amplification status in neuroblastoma.

FISH

neuroblastoma


Input: Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.

Beemer-Langer syndrome

Beemer-Langer syndrome


Input: We present the first report of PTH-induced mild, asymptomatic, normochromic normocytic anemia in a postmenopausal woman treated sequentially with PTH 1-84 and PTH 1-34.

PTH

mild


Input: Noteworthy, none of the patients who developed H/PF4 antibodies had heparin-induced thrombocytopenia or a thromboembolic event.

thromboembolic event


Input: Akt2 and nucleophosmin/B23 function as an oncogenic unit in human lung cancer cells.

lung cancer


Input: The activity of IDO and TDO in cervical mucus was not significantly different between the delivery group and the miscarriage group, and between the normal chromosome group and abnormal chromosome group.

IDO

miscarriage


Input: This study examines interactions of a mutation in Pax3, embryonic sex, advanced maternal age, and arsenite exposure in the splotch (Sp) mouse model, with the aim of describing gene-environment interactions for neural tube defects and embryonic lethality.

neural tube defects

neural tube defects


Input: To analyze putative hypoxic induction of CA IX, immunohistochemical staining for HIF-1α and VEGF was performed.

VEGF

hypoxic


Input: When patients were stratified by combined CXCL9/ITSN2 or CXCL9/FLJ22028 tumor levels, they exhibited significantly different disease-free survival curves (P = 0. 0073 and P = 0. 005, respectively).

tumor


Input: In non-neoplastic inflammation, such as gastritis, NOVA1 was highly enriched in T lymphocytes and stromal spindle cells, while expression of this protein was frequently decreased in those types of cells within gastric cancer tissues.

inflammation


Input: Our results underline the importance of including SLC18A3 sequencing in the differential diagnostics of fetuses with arthrogryposis, FADS, or LMPS of unknown etiology.

FADS

FADS


Input: In the present study, we examined by RT-PCR the expression of a number of genes encoding CTA in 23 surgical samples of sporadic MTC.

CTA

sporadic


Input: The androgen receptor gene CAG repeat length showed a low correlation with the increase of prostate weight, suggesting some effect on age-related prostate growth.

androgen receptor gene

weight


Input: Splenectomy, as the intervention method of hypersplenism, is performed less frequently in patients who developed HCC than in patients who did not develop HCC.

HCC

hypersplenism


Input: Transactive response DNA-binding protein-43 (TDP-43) has been thought to be generally involved in the pathogenesis of most amyotrophic lateral sclerosis (ALS) patients although it remains undefined how TDP-43 is involved in the ALS pathogenesis.

DNA-binding protein

amyotrophic lateral sclerosis


Input: VEGF levels were higher in NP epithelial cells than those of IT (P < 0. 01) under hypoxia.

VEGF

hypoxia


Input: The ALG9 defect presented here defines a novel form of CDG named " CDG-IL. "

CDG-IL

CDG-IL


Input: A whole genome expression analysis of peripheral blood mononuclear cells yielded 12 protein-coding genes (ADM, APBB3, CD160, CFD, CITED2, CTSZ, IER5, NFKBIZ, NR4A2, NUCKS1, SERTAD1, TNF) that were differentially expressed between 29 unmedicated depressed patients with a mood disorder (8 bipolar disorder, 21 major depressive disorder) and 24 healthy controls (HCs).

ADM

bipolar disorder

ADM

bipolar disorder


Input: The common variants in the fat mass and obesity-associated (FTO) gene have been associated with obesity and insulin resistance.

FTO

insulin resistance


Input: While exploring the effects of aerosol IFN-γ treatment in HIV-1/tuberculosis co-infected patients, we observed A to G mutations in HIV-1 envelope sequences derived from bronchoalveolar lavage (BAL) of aerosol IFN-γ-treated patients and induction of adenosine deaminase acting on RNA 1 (ADAR1) in the BAL cells.

tuberculosis


Input: Increased expression of CD54, CD18, MHC class II molecules, and proliferating cell nuclear antigen in acute puromycin aminonucleoside nephrosis.

nephrosis

nephrosis


Input: Our data suggest that hepatic cystogenesis in autosomal recessive polycystic kidney disease may involve increased fluid accumulation because of overexpression and abnormal location of AQP1, CFTR, and AE2 in cystic cholangiocytes.

CFTR

autosomal recessive polycystic kidney disease

CFTR

autosomal recessive polycystic kidney disease


Input: Potential therapeutic strategy for oral squamous cell carcinoma by ErbB3-binding protein 1 gene transfer.

ErbB3-binding protein 1

squamous cell carcinoma


Input: Induction of p53 in response to actinomycin D or hypoxic stress decreases AFP expression.

AFP

hypoxic


Input: The mutation R25G in exon 1 of LMNA gene we reported here in a Chinese family had a phenotype of malignant arrhythmia and mild LGMD, suggesting that patients with familial DCM, conduction system defects and skeletal muscle dystrophy should be screened by genetic testing for the LMNA gene.

LMNA gene

mild


Input: T (3; 14) (p14. 1; q32) involving IGH and FOXP1 is a novel recurrent chromosomal aberration in MALT lymphoma.

MALT lymphoma

MALT lymphoma


Input: These findings support the hypothesis that NPS results from a 50% reduction in LMX1B function via a reduction in synthesis, disruption of secondary structure, or failure to bind DNA.

NPS

NPS


Input: Our study identified genes dysregulated in stem and progenitor cells in-7/7q-AML, and suggests that IL1RAP may be a promising therapeutic and prognostic target in AML and high-risk myelodysplastic syndrome.

myelodysplastic syndrome


Input: This interaction is essential for ubiquitylation by CRL3KLHL3 and disease-causing mutations in WNK4 and KLHL3 exert their effects on blood pressure by disrupting this interaction.

blood pressure


Input: Presence of high-affinity AHR enhanced thymic atrophy and liver hypertrophy in the pups.

AHR

hypertrophy

AHR

hypertrophy


Input: In organ cultures of human intestine, VCAM-IgG also up-regulates MT1-MMP, and in mucosal ulcers of inflammatory bowel disease patients, MT1-MMP transcripts are abundant, coincident with expression of VCAM-1 on cells at the ulcer margin.

ulcer


Input: These results introduce agrin as a potential therapeutic target for the treatment of mania and other neurological disorders associated with reduced Na (+), K (+)-ATPase activity and neuronal hyperexcitability.

ATPase

mania

ATPase

mania


Input: To examine whether target delivery of VEGF gene directly into brain may prevent ischemic brain damage, the VEGF expression adenoviral vectors, AVHP. VEGF-with 476bp of the human preproendothelin-1 (ppET-1) promoter and 35bp of the hypoxia-reponse element (HRE) driving VEGF expression and CMV. VEGF were transferred into hypoxic-induced ischemic (HI) rat brains.

VEGF

hypoxic


Input: To date we have sequenced all 19 coding exons of the VACM-1/cul5 gene in T47D breast cancer cells, U138MG glioma cells, ACHN renal cancer cells, and OVCAR-3 ovarian cancer cells.

cul5 gene

glioma


Input: In step wise Cox regression multivariable analysis, hazard ratio for high hemoglobin, WBC count, and coexpression of CD135 and CD117 was 0. 63, 1. 73, and 2. 46 respectively for EFS, and for OS only CD135 + CD117 coexpression emerged as an independent predictor (hazard ratio 2. 25).

regression


Input: Patients with epithelial ovarian cancer with tumors with positive macroscopic residual disease and high VEGF gene expression could be potential candidates for anti-VEGF therapy with bevacizumab.

VEGF

residual disease


Input: The protein levels of VEGF released to the medium was increased (8-fold, p < 0. 01) by hypoxia.

VEGF

hypoxia


Input: The regulation of Klotho expression by cigarette smoke extract (CSE) was studied in vitro, and small interfering RNA (siRNA) and recombinant Klotho were employed to investigate the role of Klotho on CSE-induced inflammation.

CSE

inflammation


Input: Polymorphisms of death pathway genes FAS and FASL in esophageal squamous-cell carcinoma.

FASL

esophageal


Input: To conclude, no evidence for a role for LKB1 in tumorigenesis of sporadic pancreatic acinar cell carcinoma was found.

tumorigenesis


Input: A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR-125b-2, let-7c and miR-99a.

down syndrome

down syndrome


Input: A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.

mulibrey nanism

mulibrey nanism


Input: Collectively, this study provides a compelling argument that estrogen can potentiate tumor progression by EMT induction and highlights the crucial role of ERalpha in ovarian tumorigenesis.

EMT

tumor progression


Input: A small interference RNA (siRNA) targeting EPO or control negative siRNA was injected intravitreally at postnatal (P) day 12, P14, and P15 during the hypoxic phase, and the effect on neovascularization was evaluated in retinal flatmounts at P17.

neovascularization


Input: The objective response rates (ORR) were 71. 7% in never-smoking ADCC, 25. 0% in ever-smoking ADCC, but no response in SQCC, while those of the patients with EGFR mutant and wild-type ere 85. 7% and 10. 0%, respectively.

EGFR

smoking


Input: CCPRCC with variant morphology expressed carbonic anhydrase IX (CA-IX) in cup-shaped distribution.

carbonic anhydrase IX

cup


Input: It contains three genes, USP9Y, DBY and UTY, but only the former two can be at present considered candidate genes for the infertile phenotype associated with deletion of this interval.

DBY

infertile


Input: Our results identify TPEF as a tumor marker that could be useful in the follow-up of gastrointestinal cancer patients or the screening of individuals at risk of developing gastrointestinal neoplasms.

TPEF

gastrointestinal cancer


Input: Mutational analysis of the NOD2 gene revealed a missense mutation (R334W) previously detected in other Blau syndrome pedigrees.

Blau syndrome

Blau syndrome


Input: The MPI of pterygium fibrovascular tissue was also significantly higher than that of superior conjunctival fibrovascular tissue (6. 0; P = 0. 0001).

MPI

pterygium


Input: We performed in situ hybridization to assess hippocampal expression of the transcripts encoding NMDA receptor subunits NR1, 2A, 2B, 2C and 2D, and the transcripts for the NMDA receptor associated PSD proteins PSD95, PSD93, NF-L, and SAP102 in subjects with schizophrenia, bipolar affective disorder I, and a comparison group.

bipolar affective disorder

bipolar affective disorder


Input: All asymptomatic or mildly mentally delayed female carriers studied to date have non-random XCI patterns, suggesting that this attenuates the deleterious effects of the MECP2 mutations in these women.

asymptomatic


Input: Two recent candidate genes, ErbB3 and Fgfr1, are growth factors whose mRNA levels have been found to be altered in the leukocytes of patients that are affected by bipolar disorder in a depressive state.

bipolar disorder

bipolar disorder


Input: Investigation of the role of ANKH in ankylosing spondylitis.

ANKH

spondylitis


Input: A highly responsive HepG2/NF-kappaB/luc clone L for 12-O-tetradecanoylphorbol-13-acetate (TPA)-induced tumor promotion inhibited by methotrexate (MTX) was selected by high-throughput bioluminescent imaging (BLI) in vitro.

NF-kappaB

tumor promotion


Input: Using classification and regression tree analysis (CART) we established two groups of patients according to their RAB25 mRNA level and their risk of death.

regression


Input: Secondary malignant giant-cell tumour of bone: molecular abnormalities of p53 and H-ras gene correlated with malignant transformation.

giant


Input: The present study was intended to identify common genetic variants responsible for prostate cancer susceptibility in the GEMIN4 gene.

GEMIN4 gene

prostate cancer susceptibility


Input: Here, we studied mRNA patterns of PACAP, SDF-1 and the cognate receptors PAC1 and CXCR4 by in situ hybridization in the rat hippocampus after transient global ischemia, a rat model for programmed death of CA1 pyramidal neurons.

ischemia


Input: Our present study suggests that p34 (SEI-1) can promote metastasis by enhancing migration and invasion of cancer cells.

metastasis


Input: OBJECTIVES: To assess the contribution of inherited variants in genes involved in base excision repair and oxidative DNA damage including MUTYH, OGG1, NEIL1, NEIL2, NEIL3, NUDT1 and NTH1 to the multiple colorectal adenoma phenotype.

colorectal adenoma


Input: In summary, our findings support the conclusions that BMP2 is the causing gene for BDA2, that the genomic location corresponding to the duplication region is prone to structural changes associated with malformation of the digits, and that this tendency is probably caused by the abundance of microhomologous sequences in the region.


Input: Moreover, activation of caspase-3 and-8 and the cytoplasmic translocation of mitochondrial cytochrome c were evident upon CUG2 expression.

translocation


Input: In colon cancer, the frequently mutated K-ras oncogene also can regulate VEGF expression, but the role that K-ras may play in hypoxia is unknown.

VEGF

hypoxia


Input: We investigated the Tregs frequency in patients with multiple myeloma (MM) and in those with monoclonal gammopathy of undetermined significance (MGUS), and found that CD4 (+) FoxP3 (+) and CD8 (+) FoxP3 (+) Tregs were significantly increased in patients with MM and correlated with the active phase.

monoclonal gammopathy of undetermined significance


Input: The authors investigated the role of FXR expression and activity in esophageal cancer initiation and growth.

FXR

esophageal cancer


Input: This new neurological disease, early-onset leukoencephalopathy with thalamus and brainstem involvement and high lactate, is hallmarked by unique magnetic resonance imaging features, defined by a peculiar biphasic clinical course and caused by mutations in a single gene, EARS2, expanding the list of medically relevant defects of mitochondrial DNA translation.

leukoencephalopathy with thalamus and brainstem involvement and high lactate

leukoencephalopathy with thalamus and brainstem involvement and high lactate


Input: Improved analysis of C26: 0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening.

ESI

blood spots


Input: Further, over expression of hPrp4 (Pro315Leu), but not hPrp4 (WT), triggered systemic deformities in wild-type zebrafish embryos with the retina primarily affected, and dramatically augmented death rates in morphant embryos, in which orthologous zebrafish prpf4 gene was silenced.

deformities


Input: The present study was undertaken to evaluate and compare the performance of a heat-denatured signal-amplified p24 assay for the determination of p24 viral load in the plasma of individuals infected with different subtypes of HIV-1 and using the RT-PCR-based RNA viral load test as the gold standard.

viral load


Input: The combined frequencies of IL-10 A/T/A haplotype and TNF-alpha G-G genotype were significantly increased in SLE patients.

IL-10 A

SLE

IL-10 A

SLE


Input: Using a blind set of plasmas obtained from 21 breast cancer patients and 21 normal healthy controls, we confirmed that BTD was significantly down-regulated in breast cancer plasma (Wilcoxon rank-sum test, p = 0. 002).

BTD

blind


Input: Genetic disruption of the PI3K regulatory subunits, p85α, p55α, and p50α, normalizes mutant PTPN11-induced hypersensitivity to GM-CSF.

hypersensitivity


Input: High-molecular-weight complexes are caused by the " coiled-coil " domain of PML or the BTB/POZ domain of PLZF.

PLZF

weight


Input: Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking.

spartin

mono


Input: The NUP98/RAP1GDS1 (NRG) is a new fusion gene, originating from the t (4; 11) (q21; p15) translocation, that characterizes a subset of T-cell acute lymphoblastic leukemia (T-ALL).

translocation


Input: The purpose of this study was to evaluate if the life styles such as drinking and smoking and the genetic variations of alcohol-metabolizing enzymes (ADH2, ALDH2, CYP2E1, and CAT) were associated with the immunological biomarkers.

smoking


Input: The aim of this study was to evaluate clinical significance of C-myc mRNA in patients with tongue cancer.

C-myc

tongue cancer


Input: Most spermatocytic seminomas show increased immunoreactivity for FGFR3 and/or HRAS.

seminomas

seminomas


Input: With the advent of powerful screening techniques, TTR has also been linked to a number of other pathological conditions, including Parkinson' s disease, schizophrenia, depression, among others.

TTR

depression

TTR

depression


Input: Genetic variations in two hypoxia-inducible angiogenic genes, VEGF and ANG, have been linked with sporadic amyotrophic lateral sclerosis (SALS).

VEGF

hypoxia


Input: Although the total SL PLC activity was decreased in ischemia and increased upon reperfusion, differential changes in PLC isozymes were detected.

PLC

ischemia


Input: The present study evaluated the effect of ET (B) receptor agonist, IRL 1620, on breast tumor perfusion, concentration of [3H] paclitaxel in tumor and tissues, and efficacy of paclitaxel in N-methyl nitrosourea induced breast tumor bearing rats.

ET (B

breast tumor

ET (B

breast tumor


Input: In the present study, we have performed the experiments to test the hypothesis that histone H3K14 acetylation is the key role in the fetal heart leads to over-expression of cardiac specific genes DHAND and EHAND caused by prenatal alcohol exposure.

DHAND

prenatal alcohol exposure

DHAND

prenatal alcohol exposure


Input: As such, PLA2G5 tipped the immune balance toward an M2 state, thereby counteracting adipose tissue inflammation, insulin resistance, hyperlipidemia, and obesity.

insulin resistance


Input: The median sample size of studies was 112, 74% were retrospective case-series and 70% performed microsatellite instability (MSI) analysis to evaluate the status of MMR.

MMR

microsatellite instability


Input: Mutations in MED12 cause X-linked Ohdo syndrome.

X-linked Ohdo syndrome

X-linked Ohdo syndrome


Input: We screened a group of 105 Chinese sporadic NFLE cases and identified a novel CHRNB2 mutation, V337G, in an evolutionary conserved region of the intracellular loop between transmembrane domains M3 and M4 in one patient.

sporadic


Input: AST decreased the protein level of VEGF and bFGF in HCT 116 colon cancer cells in a time-and dose-dependent manner.

AST

colon cancer


Input: Genetic heterogeneity has been confirmed in rare sporadic cases, with mutations affecting other postsynaptic glycinergic proteins including the GlyR beta subunit (GLRB), gephyrin (GPHN) and RhoGEF collybistin (ARHGEF9).

GLRB

sporadic


Input: Chronic dietary menthol blunted mesenteric arterial constriction and lowered blood pressure in genetic hypertensive rats via inhibition of RhoA/Rho kinase expression and activity in the vivo study.

Rho kinase

constriction


Input: Here, we assessed the role in T1D of variants previously reported to be associated with atopic diseases and epithelial barrier function, profilaggrin (FLG), and those that affect the expression levels of the proinflammatory cytokines tumour necrosis factor (TNF)-α, interleukin (IL)-1β, interferon (IFN) γ and IL-18.

TNF

atopic


Input: Bezafibrate treatment of LLC-PK1 cells prevented cisplatin-induced translocation of proapoptotic Bax from the cytosol to the mitochondrial fraction, and increased the expression of antiapoptotic molecule Bcl-2.

translocation


Input: This is based on analysis of the dominant negative effects of ClC-1 mutations causing myotonia congenita (MC, Thomsen' s disease), including a newly identified mutation (P480L) in Thomsen' s own family.

Thomsen' s disease

Thomsen' s disease


Input: Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Retinal degeneration

Retinal degeneration


Input: In obesity, reduction of adipose EFNB1 may accelerate the vicious cycle involved in adipose tissue inflammation.

inflammation

inflammation


Input: To explore whether there is genetic variation in HTLV-I tax that can escape CTL recognition during the development of ATL, the HTLV-I tax gene was sequenced in 55 patients with ATL, 61 patients with HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP), and 62 healthy carriers, and it was correlated with the presence of HLA-A * 02.

HLA-A

tropical spastic paraparesis


Input: No association with left ventricular mass was found for the polymorphisms of angiotensin I-converting enzyme gene I/D, angiotensinogen gene M235T and angiotensin II type 1 gene A1166C when studied separately.

angiotensin I-converting enzyme

left ventricular mass


Input: The expression of CD39 on regulatory T cells is genetically driven and further upregulated at sites of inflammation.

inflammation


Input: Lamin A is a key component of the nuclear lamina produced through post-translational processing of its precursor known as prelamin A. LMNA mutations leading to farnesylated prelamin A accumulation are known to cause lipodystrophy, progeroid and developmental diseases, including Mandibuloacral dysplasia, a mild progeroid syndrome with partial lipodystrophy and altered bone turnover.

prelamin A

mild


Input: HIF-1α is a transcription factor that under hypoxic conditions, accumulates in endothelial cells and can bind to VEGF gene promoter and induce VEGF gene expression.

VEGF

hypoxic


Input: This study supports that the ASAH1 gene may be a potential candidate gene for schizophrenia in Han Chinese subjects.

schizophrenia

schizophrenia


Input: Immunohistochemical analysis using an antibody specific to nuclear NOTCH1 correlates with mutation status in sporadic cSCCs, and regions of NOTCH1 loss or downregulation are frequently observed in normal-looking skin.

sporadic


Input: Therefore, we report a novel mutation of the ATP7B gene in a family with WD.

WD

WD


Input: We used two-level regression models to estimate the effects of GSTM1, GSTT1, and GSTP1 genotypes on the adjusted annual average lung function growth.

regression


Input: Further strengthening this linkage observation, two flanking marker loci for LPL locus, D8S261 (9 cM telomeric to LPL locus) and D8S282 (3 cM centromeric to LPL locus), also showed evidence for linkage with systolic blood pressure (P = 0. 02 and 0. 0002 for D8S261 and D8S282, respectively).

LPL

systolic blood pressure


Input: Notably, we found that ZBTB7A is genetically lost, as well as downregulated at both the mRNA and protein levels, in a subset of human advanced prostate cancers.

prostate cancers

prostate cancers


Input: Accumulating evidence suggest that the induction of epithelial-mesenchymal transition (EMT) phenotype and acquisition of cancer stem cell (CSC) characteristics are highly interrelated, and contribute to tumorigenesis, tumor progression, metastasis, and relapse.

EMT

tumor progression


Input: At weeks 4, 8, and 12 after transplantation, renal function, renal interstitial fibrosis, and peritubular microvessel density (MVD) were investigated.

MVD

renal interstitial fibrosis


Input: I-and L-FABP concentrations significantly increased with birth weight (1. 6 and 5. 0 ng/ml per kg, respectively).

L-FABP

birth weight


Input: Severe acute toxicities, including leukopenia, stomatitis, and cheilitis, were evaluated according to 6 single nucleotide polymorphisms (SNPs) in the gene; the intronic SNPs of rs7635707 G/T, rs6787255 A/C, rs9812034 G/T, and rs9310738 C/T and the SNPs in the 3'-untranslated region (3'-UTR) of rs844107 C/T and rs1349265 G/A.

UTR

leukopenia


Input: Two important findings were, first, that several genes known to be frequently hypermethylated in prostate cancer were apparent, and, second, that validation studies revealed eight novel genes hypermethylated in the prostate tumor cell lines, four of which were unmethylated in normal prostate cells and hypermethylated in primary prostate tumors (SLC15A3, 66%; KRT7, 54%; TACSTD2, 17%; GADD45b, 3%).

prostate cancer


Input: Genetic ablation of SK2 impaired leukemia development in a mouse model of ALL and pharmacologic inhibition extended survival in mouse xenograft models of human disease.

leukemia


Input: Increased expression was also associated with breast cancer subtypes, and ectopic expression of PHGDH in mammary epithelial cells disrupted acinar morphogenesis and induced other phenotypic alterations that may predispose cells to transformation.

PHGDH

breast cancer

PHGDH

breast cancer


Input: Plasma VEGF levels decreased by approximately 90% during treatment with bortezomib, indicating that this agent can potently inhibit the hypoxia response in tumors.

VEGF

hypoxia


Input: The effect of hypoxia, inflammation, and ER stress on the expression of TWEAK and Fn14 was examined in human adipocyte and macrophage cell lines.

hypoxia


Input: Cumulative incidence of second subsequent neoplasm (SN2), either malignant or benign, was calculated.

neoplasm


Input: Association analysis integrating gene expression data with clinical information revealed that enhanced MCMBP transcript levels correlate with an increased probability of relapse risk in colorectal cancers and different types of carcinomas.

MCMBP

carcinomas


Input: Pulmonary vascular balance in congenital diaphragmatic hernia: enhanced endothelin-1 gene expression as a possible cause of pulmonary vasoconstriction.

diaphragmatic hernia

diaphragmatic hernia


Input: Bcl-2 transfection via herpes simplex virus blocks apoptosis-inducing factor translocation after focal ischemia in the rat.

translocation


Input: Plasma C3c exceeded the reference interval in two patients with ulcerative colitis.

ulcerative colitis


Input: We have analyzed the Btk gene in six XLA patients from five unrelated families.

Btk

XLA

Btk

XLA


Input: Profiles of liver cytokine RNA levels as well as serum cytokine levels revealed reduced expression of the Th1 cytokine IFN-gamma in CCR2-/-mice.

liver

liver


Input: In this study, individual variation in the genetic response to low-dose bisphenol A (BPA) was investigated in human foreskin fibroblast cells (hFFCs) derived from child cryptorchidism (CO) and hypospadias (HS) patients.

BPA

hypospadias


Input: An in vitro study revealed that activin-A, which is induced by IL-1β or TNF-α, might promote endometriosis by stimulating IL-6 and PAR-2 mRNA expression and increasing the proliferation of EoSC.

PAR

endometriosis


Input: The restricted expression of CD-RAP/MIA may provide an opportunity to monitor cartilage metabolic activity as well as the tumor activity of melanoma and chondrosarcoma.

MIA

chondrosarcoma


Input: Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.

X-linked mental retardation

X-linked mental retardation


Input: Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.

androgen receptor

androgen insensitivity syndrome

androgen receptor

androgen insensitivity syndrome


Input: This finding has important implications for the molecular diagnosis of SNS and alveolar rhabdomyosarcoma, and underscores the critical contribution of the cell of origin to the phenotype induced by oncogenic transcription factor reprogramming.

SNS

alveolar rhabdomyosarcoma


Input: Methods In this context, a search was undertaken for mutations in LMNA, encoding Lamins A/C, and ZMPSTE24, LBR, LMNB1, LMNB2, MAN1, SYNE1a and LAP2, encoding Lamins A/C molecular partners, in a Caucasian woman affected with Reynolds syndrome, a particular nosologic entity specifically associating limited cutaneous SSc and primary biliary cirrhosis.

LBR

Reynolds syndrome

LBR

Reynolds syndrome


Input: siRNAs targeting IQGAP1 or RhoC were transfected into gastric cancer cells to knock down the expression of the proteins.

RhoC

gastric cancer


Input: Cluster analysis however revealed that simultaneous high expression of SLC31A1, ABCC2, and ABCG2 indicates poor survival of HNSCC patients.

HNSCC

HNSCC


Input: Down-regulation of transcription elogation factor A (SII) like 4 (TCEAL4) in anaplastic thyroid cancer.

SII

anaplastic thyroid cancer


Input: Results from this preliminary study suggest that the expression of ApoER2 may serve as a trait marker for major depressive disorder.

major depressive disorder

major depressive disorder


Input: Taken together, our study provides a mechanistic basis for the role for the PLCγ1-PKCγ pathway in regulating Hsp90α plasma membrane translocation, which facilitates tumor cell motility and promotes tumor metastasis.

translocation


Input: In this study, in order to evaluate the reno-protective effects of wortmannin in early DN by regulating Rac1 and Cdc42, streptozotocin (STZ)-induced proteinuric renal disease (SPRD) rats were treated with wortmannin.

STZ

renal disease


Input: We screened the DNA of 135 patients with RP, 25 patients with CRD, and 30 with LCA using SSCP and direct DNA sequencing for mutations in the SEMA4A gene.

CRD

CRD


Input: The YAC transgene was expressed in neural crest cells, rescued the profound craniofacial abnormalities and spina bifida observed in PDGFRalpha knockout mice and prolonged survival until birth.

PDGFRalpha

craniofacial abnormalities

PDGFRalpha

craniofacial abnormalities


Input: Our observation demonstrates that FMR2 gene deletions may contribute to the FRAXE phenotype.

FRAXE

FRAXE


Input: Conversely, the CDK inhibitor Flp completely blocked VEGF induction by hypoxia.

VEGF

hypoxia


Input: In addition they highlight the role of the App-Runx1 interval, including Sod1 and Tiam1, in the induction of post-natal lethality and of the cardiac conduction defects in Ts65Dn.

cardiac conduction defects


Input: Multivariate analysis based on a conditional logistic regression model and a hierarchically well-formulated model strategy revealed that: (i) the OR of developing probable AUD due to 1 g increment of daily ethanol drinking was 1. 110 * among farmers (95% CI = 1. 054-1. 170); (ii) OR due to 1 g increment of daily ethanol drinking was 1. 329 * among non-farmers (95% CI = 1. 109-1. 593); (iii) OR due to either ADH2 * 1/1 or ALDH2 * 1/1 was insignificant; and (iv) the daily amount of smoking is independently associated with probable AUD.

smoking


Input: Noting that aneuploidy in human breast cancer correlates with increased expression levels of the Mps1 checkpoint gene, we investigated whether these high levels of Mps1 contribute to the ability of breast cancer cells to tolerate this aneuploidy.

aneuploidy


Input: In a septic shock population, the Arg753Gln TLR2 polymorphism occurred in 2 out of 91 septic patients.

septic shock


Input: These observations were supported by quantitative reverse transcription-polymerase chain reaction, for miR-328, miR-17-5p, miR-134, miR-652, miR-382, and miR-107 and were consistent with a schizophrenia-associated increase in miRNA processing through elevated Dicer expression.

schizophrenia

schizophrenia


Input: We show that DICER expression is suppressed by hypoxia through an epigenetic mechanism that involves inhibition of oxygen-dependent H3K27me3 demethylases KDM6A/B and results in silencing of the DICER promoter.

DICER

hypoxia


Input: CLN2/TPP1-and CLN3-iPSCs displayed overlapping but distinct biochemical and morphological abnormalities within the endosomal-lysosomal system.

abnormalities


Input: Conversely, hypoxia activates PKD2 in pancreatic cancer cells and PKD2 was identified as the major mediator of hypoxia-stimulated VEGF-A promoter activity, expression and secretion in tumour cells.

VEGF-A

hypoxia


Input: We found elevated expression of SRC and LYN kinase mRNA and protein but decreased levels of CKB kinase, alterations that may have a role in the invasiveness and metastasis of gastric tumors.

CKB

metastasis


Input: Chronic hypoxic pulmonary hypertension (PH), associated with increased pulmonary arterial pressure (PPA) and right ventricular hypertrophy (RVH), correlates significantly with calcitonin gene-related peptide (CGRP) and somatostatin (SOM) levels in lung and blood.

CGRP

right ventricular hypertrophy


Input: Collectively, DAPK promoter methylation and down-regulation is tightly associated with gastric atrophy, which often contributes to the preneoplastic changes in gastric carcinogenesis.

DAPK

gastric atrophy


Input: It has become increasingly clear that TGF-β plays fundamental roles in multiple steps of tumor progression, including epithelial-mesenchymal transition (EMT).

EMT

tumor progression


Input: The identification of CRLF1 mutations in Crisponi syndrome supports the key role of the CNTFR pathway in the function of the autonomic nervous system.

Crisponi syndrome

Crisponi syndrome


Input: Screening for structural balanced chromosomal aberrations in 58 patients with ovarian carcinoma found a patient with inv (9) (p11; q13) who had repeated spontaneous abortions.

ovarian carcinoma


Input: We have investigated expression of the cell cycle control and tumor suppressor genes INK4a (p16-p14ARF), INK4b (p15-p10) and RB, and their relation to telomerase activation during malignant meningioma progression.

malignant meningioma


Input: The results of this study demonstrated that new types of HAdV-D caused epidemic keratoconjunctivitis during 1995-2010, and included an outbreak of keratoconjunctivitis caused by HAdV-D54.

keratoconjunctivitis


Input: One mechanism for driving angiogenesis results from the increased production of vascular endothelial growth factor (VEGF) following up-regulation of the hypoxia-inducible transcription factor.

VEGF

hypoxia


Input: Seventy-five stroke survivors with PSD and 75 nondepressed stroke survivors.

PSD

stroke


Input: Nuclear receptor subfamily 4, group A, member 2 (NR4A2, also called Nurr1) has lately become of interest with regard to atherogenesis.

atherogenesis


Input: Of those, four had significant associations with circulating levels of IGF1 or IGFBP3 and/or mammographic density.

mammographic density


Input: Following caspase 8 activation, Bid, a proapoptotic Bcl-2 member, was cleaved and this cleavage then triggered Bax conformational changes and Bax translocation from cytosol to mitochondrial membrane.

translocation


Input: Telomere length in myocardial cells did not differ between the two rat strains, whereas telomerase activity and expression of the telomerase reverse transcriptase gene were increased in DS/obese rats.

telomerase reverse transcriptase gene

obese


Input: One SCC had a missense mutation at codon 285 (GAG > AAG, Glu > Lys) and the other a nonsense mutation at codon 336, and the leukoplakia had a missense mutation at codon 273 (CGT > CAT, Arg > His).

CAT

leukoplakia


Input: RIP3 knockout mice had decreased serum alanine amino transferase activity and hepatic steatosis but had no effect on hepatic neutrophil infiltration compared with wild type mice after Gao-binge alcohol treatment.

hepatic steatosis

hepatic steatosis


Input: Since extracellular superoxide dismutase (EC-SOD) protects tissues against the harmful effects of superoxide anion, the hypothesis that systemic adenovirus-mediated EC-SOD gene transfer could reduce liver damage was tested.

EC-SOD

adenovirus


Input: Mel-18 and BMI1 may regulate tumorigenesis, cell migration and cancer metastasis via both p16-and AKT-dependent growth regulatory pathways.

tumorigenesis


Input: A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave.

dystrophin

Duchenne muscular dystrophy

dystrophin

Duchenne muscular dystrophy


Input: The purpose of this study was to characterize the expression and function of Mgat5 in CD133 + pulmonary adenocarcinoma cells.

adenocarcinoma


Input: Decreased concentrations of DAZ family members in men with spermatogenic failure may be due to the secondary effect of germ cell loss, and transcriptional control of BOULE, DAZL, and DAZ are not altered in the various degrees of spermatogenic failure.

DAZL

secondary


Input: We have investigated alterations in the glutathione (GSH) and activity levels of antioxidative enzymes [superoxide dismutase (SOD), catalase (CAT), glutathione S-transferase (GST), and glutathione reductase (GR)] and myeloperoxidase (MPO), as markers of the ulceration process following oral administration of montelukast, lansoprazole, famotidine, and ranitidine, respectively, in rats with indomethacin-induced ulcers.

MPO

ulcers


Input: Knockdown of β-catenin and TCF4 in APC-mutated CRC cells inhibited endogenous ZEB1, whereas forced translocation of β-catenin to the nucleus in APC-wild-type CRC cells induced de novo expression of ZEB1.

translocation


Input: Low frequency of BCL-2/J (H) translocation in peripheral blood lymphocytes of healthy Japanese individuals.

translocation


Input: Herein is reported efficient erythropoietic differentiation of a human embryonic stem cell (ESC) line derived from a preimplantation genetic diagnosis (PGD)-screened embryo that harbours the homozygous sickle cell disease (SCD) haemoglobinopathy mutation.

PGD

sickle cell disease


Input: Here we identify the downstream of tyrosine kinase (Dok) family members Dok1, Dok2 and Dok3 as lung tumor suppressors.

lung tumor

lung tumor


Input: Abnormal activation of the recently identified with-no-lysine kinase (WNK)-oxidative stress-responsive kinase 1 (OSR1)/STE20/SPS1-related proline/alanine-rich kinase (SPAK)-NaCl cotransporter (NCC) phosphorylation cascade results in the salt-sensitive hypertension of pseudohypoaldosteronism type II.

oxidative stress-responsive kinase 1

hypertension

oxidative stress-responsive kinase 1

hypertension


Input: With this finding we demonstrate that the destruction of dimerization of the androgen receptor is one of the causes of Reifenstein syndrome.

androgen receptor

Reifenstein syndrome

androgen receptor

Reifenstein syndrome


Input: To investigate the association of single nucleotide polymorphisms (SNPs) in NOS3 (G894T, T-786C, and a variable number of tandem repetitions VNTR in intron 4), MMP2 (C-1306T), and MMP9 (C-1562T) genes with preeclampsia in patients from Southeastern Brazil.

preeclampsia


Input: Twelve to 15% of sporadic colorectal cancers display defective DNA mismatch repair (MMR), manifested as microsatellite instability (MSI).

MMR

microsatellite instability


Input: Our findings indicate that miR-26a replacement is a potential therapeutic strategy for metastatic melanoma, and that SODD, in particular, is a potentially useful therapeutic target.

SODD

metastatic melanoma


Input: The combined findings strongly suggest that the TIA1 mutation causes perturbed RNA splicing and cellular stress resulting in WDM.

WDM

WDM


Input: Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: Finally, we show that the adaptive advantage conferred by AR-mediated Grp78/BiP upregulation is temporary, as upon chronic serum starvation, AR activation delayed but did not suppress the onset of autophagy and cell death.

starvation


Input: Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

Pitt-Hopkins syndrome

Pitt-Hopkins syndrome


Input: We have examined gene expression for the GLUT 4 transporter isoform in subcutaneous adipocytes, a classic insulin target cell, to better understand molecular mechanisms causing insulin resistance in non-insulin-dependent diabetes mellitus (NIDDM) and obesity.

GLUT

insulin resistance


Input: These results reveal a novel posttranslational mechanism for downregulating PEDF, and provide an explanation for hypoxia-provoked increases in VEGF/PEDF ratios, in angiogenesis and/or in neuronal death.

VEGF

hypoxia


Input: Resveratrol (RV), an antioxidant, inhibits angiotensin II (Ang II)-induced hypertrophy and Ang II-or epidermal growth factor (EGF)-induced Akt phosphorylation in rat vascular smooth muscle cells (VSMCs).

angiotensin II

hypertrophy

angiotensin II

hypertrophy


Input: Adult PACAP (-/-) mice showed not only hyperactivity, jumping behavior, and depression-like behavior, but also decreased social interaction.

PACAP

depression

PACAP

depression


Input: Yet, FLG mutations cannot fully account for the original linkage peak on chromosome 1q21, a region comprising the so-called epidermal differentiation complex (EDC).

FLG

epidermal differentiation complex


Input: To investigate interactions between tumor cells and macrophages in angiogenesis, we examined macrophage infiltration, tumor vascularity and expression of monocyte chemoattractant protein (MCP)-1, CC chemokine receptor 2 (CCR2) and vascular endothelial growth factor (VEGF) in 57 archival specimens from patients with esophageal dysplasia (n = 9) and squamous cell carcinomas (n = 48).

MCP

esophageal dysplasia


Input: Rearrangement of the AML1/CBFA2 gene in myeloid leukemia with the 3; 21 translocation: expression of co-existing multiple chimeric genes with similar functions as transcriptional repressors, but with opposite tumorigenic properties.

translocation


Input: We validated ZBTB20, CELF2, PARD3, AKAP13 and WAC, which were identified by our screens in multiple cancer types, as new tumor suppressor genes in prostate cancer.

prostate cancer

prostate cancer


Input: Patients presenting slow growth and muscle weakness that could result from a mitochondrial impairment and mental retardation should be considered for sequence analysis of the CaM KMT gene.

CaM KMT

mental retardation


Input: Venous thrombosis occurred in 17% of patients (concurrent v sequential GM-CSF, 29% v 5%; P2 =. 08).

GM-CSF

Venous thrombosis

GM-CSF

Venous thrombosis


Input: SIRT1 overexpression substantially inhibited neointima formation after carotid artery ligation or carotid artery wire injury.

neointima formation


Input: The course of a S. aureus peritonitis was determined upon pharmacological HIF-1 inhibition.

peritonitis


Input: In animal models, the leptin (LEP) and the leptin receptor (LEPR) genes have been shown to be very important in obesity because leptin functions as a negative feedback signal in regulating body-weight through reducing food intake and stimulating energy expenditure.

LEPR

weight


Input: Vascular maturation was detected in vivo by vasoreactivity to hypercapnia, measured by BOLD contrast MRI and validated by immunostaining of histologic sections to alpha-smooth muscle actin.

MRI

hypercapnia


Input: Having reviewed the distribution of all AGXT mutations, we have evaluated a diagnostic strategy that uses selected exon sequencing for the molecular diagnosis of PH1.

AGXT

AGXT


Input: The combination of hypoxia and dmPGE (2) treatment resulted in the highest levels of VEGF and HIF-1alpha when compared to either individual treatment.

VEGF

hypoxia


Input: The significance of DNA mismatch repair (MMR) deficiency or microsatellite instability (MSI) in ampullary carcinomas remains to be defined.

MMR

microsatellite instability


Input: In an increasing number of B-cell malignancies, BCR signaling is implicated as a pivotal pathway in tumorigenesis.

BCR

tumorigenesis


Input: DNA analysis revealed that the OHSt patients have 1 of 2 heterozygous mutations (t182g, t194c) in RHAG that lead to substitutions of 2 highly conserved amino acids (Ile61Arg, Phe65Ser).

RHAG

OHSt

RHAG

OHSt


Input: These data suggest that NTN4 protects glioblastoma cells from TMZ induced senescence, probably via rescuing TMZ triggered ITGB4 dependent AKT dephosphorylation.

glioblastoma


Input: Xenografts of cells overexpressing USP6 in nude mice exhibited clinical and histological features similar to human NF.

NF

NF


Input: Intra-tumoral injection of carrier cells loaded with CRAd-F35 (Carrier-F35) also resulted in efficient regression of both CAR-positive and CAR-negative tumors.

CRAd

regression


Input: Mutations in POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, GMPPB, TMEM5 and COL4A1 and ISPD lead to a wide spectrum of phenotypes of congenital muscular dystrophies with or without eye and brain abnormalities.

GMPPB

abnormalities


Input: Sibling pair linkage and association studies between peak bone mineral density and the gene locus for the osteoclast-specific subunit (OC116) of the vacuolar proton pump on chromosome 11p12-13.

bone mineral density


Input: 195 Chinese sporadic nonsyndromic hearing-impaired children were subjected to microarray-based mutation detection for 9 hot spot mutations in four of the most common deafness-related genes (GJB2, SLC26A4, GJB3, and 12s rRNA).

sporadic


Input: The number of c-Kit (+) stem cells, and gene expression of SDF-1, VEGF and bFGF were obviously increased, which was associated with reduced infarct size, thicker left ventricle wall, greater vascular density and cardiocytes density in infarcted hearts of AdV-SDF-1 group.

VEGF

infarct


Input: To investigate the role of AEG-1 in glycolysis and tumorigenesis, we construct myc-AEG-1 expression vector and demonstrate a novel mechanism that AEG-1 may increase the activity of AMPK by Thr172 phosphorylation.

tumorigenesis


Input: We show here that the purified FLD of Angptl4 is sufficient to stimulate lipolysis in mouse primary adipocytes and that increasing circulating FLD levels in mice through adenovirus-mediated overexpression (Ad-FLD) not only induces WAT lipolysis & lt; i & gt; in vivo & lt;/i & gt; but also reduces diet-induced obesity without affecting LPL activity.

obesity

obesity


Input: Moreover, ectopic expression of SERPINB1 in oral cancer cells, SAS, Ca9-22, CAL-27 and HSC-3, increased cell migration by 25%, 52%, 90% and 100%, respectively.

SAS

oral cancer


Input: There was a significant increase (P < 0. 05) in bone mineral density in TDO-affected individuals compared with control individuals at each test region.

TDO

bone mineral density


Input: The PNPLA3 variant was associated with more severe features of steatohepatitis: steatosis (P < 0. 001), lobular inflammation (P < 0. 001), and ballooning (P = 0. 002), but not with liver fibrosis, anthropometry, or insulin resistance.

insulin resistance


Input: The present study highlights the importance of the 5' untranslated region (UTR) in identification of genes of human disease, suggests that a single-nucleotide substitution in the 5' UTR could be associated with protein aggregation, and indicates that the GEF protein is associated with cerebellar degeneration in humans.

UTR

cerebellar degeneration


Input: Telmisartan prevents weight gain and obesity through activation of peroxisome proliferator-activated receptor-delta-dependent pathways.

peroxisome proliferator-activated receptor-delta

weight gain

peroxisome proliferator-activated receptor-delta

weight gain


Input: We report a new Japanese FAF family presenting bilateral atrophies and fasciculations of the facial muscles and tongue.

FAF

fasciculations


Input: In conclusion, current data support the concept that production of IgH gene rearrangements is not associated with Bcl-2/IgH chromosomal translocation in hepatic compartment.

chromosomal translocation


Input: Our data demonstrate a novel and critical role for miR-145 expression as a regulator of Dab2 expression and β-catenin activity in response to TGF-β (1) and hypoxia.

TGF-β

hypoxia


Input: We have identified 11 different previously unreported mutations in ALOX12B and ALOXE3 in 21 ARCI patients from 19 unrelated families and demonstrated that mutations in the two genes are the second most common cause for ARCI in this cohort of patients.

ARCI

ARCI


Input: The two catalytic AMPK alpha isoforms (AMPKalpha1, AMPKalpha2) were investigated with respect to their expression, cellular distribution, and contribution to VEGF expression under hypoxic stress in human U373 glioblastoma cells.

VEGF

hypoxic


Input: A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.

phenylalanine hydroxylase

phenylketonuria

phenylalanine hydroxylase

phenylketonuria


Input: Characterization of the unique chromosomal translocation identified loss of p16 and upregulation of MDR-1 at protein level.

chromosomal translocation

chromosomal translocation


Input: Mutations in the G Protein Signaling Modulator 2 (GPSM2) cause the autosomal recessive disorder Chudley-McCullough syndrome (CMS), which is characterized by profound congenital sensorineural hearing loss with various abnormalities in the brain.

CMS

congenital sensorineural hearing loss


Input: We report the occurrence of a mixed ovarian germ cell tumor (GCT) (50% embryonal carcinoma, 20%-25% choriocarcinoma, 10%-15% dysgerminoma, and 10%-15% immature teratoma) in a 33-year-old Ashkenazi Jewish woman, carrier of the BRCA2: 6174delT mutation.

immature teratoma


Input: Akt activation is mediated through the activation of phosphatidylinositol 3 kinase, and both Akt and MAPK activation are mediated by an E-cadherin adhesion-induced ligand-independent activation of epidermal growth factor receptor.

epidermal growth factor receptor

adhesion


Input: The present study was undertaken to investigate whether the inhibition of VEGF could reduce brain edema formation and cerebral venous infarction (CVI) in a rat 2-vein occlusion (2-VO) model.

VEGF

infarction


Input: This study compares the hypermethylation status of E-cadherin and COX-2 genes in patients with oral cancer and patients with OSF and also aims to identify risk factors for the development of OSF.

OSF

oral cancer


Input: Results show that supplemental MK-7 had no effect on ectopic calcification in Abcc6 (-/-) mice.

ectopic calcification


Input: If the levels of beta (3)-AR were too high, they might contribute to the loss of cardiac function and be the foundation of the functional degradation of HF.

beta (3)-AR

HF

beta (3)-AR

HF


Input: Reporter gene assays using minimal reporters containing hypoxia response elements and activator protein-1 (AP-1) elements revealed that the activities of hypoxia inducible factor-1α (HIF-1α) and AP-1, key transcription factors for VEGF gene transcription, were suppressed by quercetin.

VEGF

hypoxia


Input: Homozygous APO E4E4 genotype was only observed in 5. 7% of obese individuals and none in non-obese group.

APO

obese


Input: In parallel, our understanding of iron transport has expanded through identification of Fpn1/Ireg1/MTP1, Sfxn1 and DCYTB: Ongoing studies of Friedreich' s ataxia, sideroblastic anemia, aceruloplasminemia and neurodegeneration with brain-iron accumulation are clarifying the role for iron in the nervous system.

DCYTB

neurodegeneration


Input: There was also an increase in CAT activity in M and Turner' syndrome.

CAT

Turner' syndrome

CAT

Turner' syndrome


Input: In three separate families with progressive symmetric erythrokeratodermia, we identified two missense mutations (c. 3099C & gt; G and c. 3119T & gt; C) that produce p. Ile1033Met and p. Ile1040Thr, both of which are located in the S6 transmembrane domain of the TRPM4 protein.

progressive symmetric erythrokeratodermia

progressive symmetric erythrokeratodermia


Input: We report a comparative analysis of the pattern of association of four genetic polymorphisms with bronchial asthma (Th2 disease) and Crohn' s disease (CD; Th1 disease).

bronchial asthma


Input: Instead, loss of REDD1 induces HIF-1 stabilization and tumorigenesis through a reactive oxygen species (ROS)-dependent mechanism.

tumorigenesis


Input: Although considerable controversy remains regarding its pathogenesis, TDI-induced asthma is an inflammatory disease of the airways characterized by airway remodeling caused, at least in part, by an excess of extracellular matrix deposition in the airway wall.

TDI

airway remodeling


Input: Here, we investigate the prognostic significance of CCND1 and EMSY amplification in a large series of breast carcinomas and in BRCA1 and BRCA2 mutation positive breast cancers.

EMSY

breast carcinomas

EMSY

breast carcinomas


Input: Mice were sacrificed for corticotropin-releasing hormone mRNA in situ hybridization and neuropeptide Y immunohistochemistry, when the tumor ratio reached to 11-13% of real body weight.

neuropeptide Y

body weight


Input: In a joint analysis with a bipolar disorder sample (16, 374 affected individuals and 14, 044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P = 7. 0 & #215; 10 (-9)), ANK3 (rs10994359, P = 2. 5 & #215; 10 (-8)) and the ITIH3-ITIH4 region (rs2239547, P = 7. 8 & #215; 10 (-9)).

bipolar disorder

bipolar disorder


Input: Furthermore, restoration of ZEB2 effectively reversed the reduced expression of ZEB2, as well as the suppressive effects of miR‑200b overexpression on the proliferation, migration, invasion and EMT in glioma U251 and U87 cells.

glioma


Input: Histo-pathological features and molecular changes [KRAS, BRAF and CTNNB1 genes mutations, microsatellite instability (MSI) phenotype, expression of mismatch repair (MMR) and mucin (MUC) 5AC proteins, mutation and expression analysis of TP53, MLH1 promoter hypermethylation analysis] were examined in a series of 51 unselected Tunisian CRC patients, 10 of them had a proven or probable hereditary disease, on the track of new tumoral markers for CRC susceptibility in Tunisian patients.

MMR

microsatellite instability


Input: In 2011 he developed jaundice, pruritus and epigastric pain. He showed increased serum levels of AST, ALT, GGT, bilirubin and alpha-fetoprotein, and viral load (14, 600, 000 IU/mL).

GGT

viral load


Input: Pooled-data analysis of 4 large cohorts of newly diagnosed CRC probands recruited between 1994 and 2010 (n = 10, 206) from the Colon Cancer Family Registry, the EPICOLON project, the Ohio State University, and the University of Helsinki examining personal, tumor-related, and family characteristics, as well as microsatellite instability, tumor MMR immunostaining, and germline MMR mutational status data.

MMR

microsatellite instability


Input: This was accompanied by increased expression of the downstream target genes Bcl-2/adenovirus E1B 19 kD-interacting protein 3 (BNIP3), Glut-1, and vascular endothelial growth factor (VEGF).

adenovirus


Input: Our data suggest that, and that hypoxia counteracts this cell death via at least two distinct mechanisms: repression of CHOP and induction of VEGF.

VEGF

hypoxia


Input: Deletions and mutations in exons 1 to 9 of the PTEN gene were evaluated by polymerase chain reaction-single strand conformation polymorphism and sequencing analysis in esophageal acanthosis, gastric polyps, colonic polyps, skin lesions, and peripheral blood mononuclear cells.

PTEN gene

acanthosis


Input: Analysis of this locus may be useful diagnostically, as it occasionally may be the only molecular marker of clonality in mature T-cell lymphomas T-cell receptor delta chain gene rearrangement also is found most often in lymphomas of the large cell anaplastic type.

T-cell receptor delta chain gene

lymphomas


Input: The nSTZ diabetic rats showed hyperglycemia, increases in food and water intake, loss of body weight gain and decrease of the number of insulin-positive cells and the size of beta-cells in pancreas and mRNA of GLUT-4 in soleus muscle and increase of hepatic PEPCK mRNA expression.

PEPCK

body weight gain


Input: We describe a male patient with extreme short stature, learning difficulties, anterior pituitary hypoplasia, secondary hypothyroidism and undetectable prolactin, growth hormone (GH) and insulin-like growth factor 1 (IGF1), with normal random cortisol.

anterior pituitary hypoplasia


Input: Depletion of DNMT1 did not induce cellular invasion in MCF-7 and ZR-75-1 non-invasive breast cancer cell lines.

invasive breast cancer


Input: From January 1990 to January 2009, 24 patients (22 achondroplasia, 2 hypochondroplasia; 13 boys, 11 girls; age 8 days to 15 years, median age 3. 0 years) were examined, including a semi-structured interview, a clinical examination, and a polysomnographic sleep recording (65 polysomnographic sleep recordings (PSG) in 24 patients).

PSG

hypochondroplasia


Input: In addition, it also expands the knowledge of LHX3-related CPHD3 phenotype and the allelic spectrum for this gene.


Input: These results indicate that a combination treatment of UCMS-IFN-beta cells and 5-FU is a potentially effective therapeutic procedure for breast cancer.

IFN-beta

breast cancer

IFN-beta

breast cancer


Input: Nearly all BLs contain rearrangements of the MYC/8q24 region; however, recent cytogenetic studies suggest that certain secondary chromosomal aberrations in BL correlate with an adverse prognosis.

MYC

chromosomal aberrations


Input: The PROP1 gene is involved in anterior pituitary cell lineage specification and is commonly implicated in non-syndromic combined pituitary hormone deficiency (CPHD).

PROP1 gene

pituitary hormone deficiency


Input: Altered editing in cyclic nucleotide phosphodiesterase 8A1 gene transcripts of systemic lupus erythematosus T lymphocytes.

cyclic nucleotide phosphodiesterase

systemic lupus erythematosus


Input: We report here the identification of nine novel IGHMBP2 mutations in five SMARD1 patients, including seven missense [c. 587A & gt; G (p. Gln196Arg), c. 647C & gt; T (p. Pro216Leu), c. 752T & gt; C (p. Leu251Pro), c. 1693G & gt; A (p. Asp565Asn), c. 1730T & gt; C (p. Leu577Pro), c. 1807C & gt; T (p. Arg603Cys), c. 1909C & gt; T (p. Arg637Cys)] and two nonsense mutations [c. 1488C & gt; A (p. Cys496X), c. 2368C & gt; T (p. Arg790X)].


Input: Grhl2 was not detected in mesenchyme in intraperitoneal bleomycin-induced injury as well as in spontaneously occurring fibrosis in double-mutant HPS1 and HPS2 mice, whereas in contrast in a radiation-induced fibrosis model, with forced Forkhead box M1 (Foxm1) expression, an overlap of Grhl2 with a mesenchymal marker was observed in fibrotic regions.

fibrosis


Input: The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45, X/46, XY disorder of sex development and variants.

SRY

45, X/46, XY disorder of sex development

SRY

45, X/46, XY disorder of sex development


Input: Surprisingly, β (II)-spectrin, previously thought to mediate ankyrin-dependent modulation in the nervous system and heart, is not coordinately regulated with ankyrin-B or its downstream partners.

ankyrin-B

nervous system


Input: In erosive gastritis, increased proliferation (MET) and transport (UCP2, SCFD1, KPNA4) were found, while genes associated with adhesion (SIGLEC11), transcription regulation (ESRRG), and electron and ion transport (ACADM, CLIC6) were down-regulated.

adhesion


Input: Our results strongly suggest that in C6 glioma cells a complex array of trans-acting factors facilitates full transcriptional induction of VEGF gene expression by hypoxia.

VEGF

hypoxia


Input: Double-labelling revealed colocalization of GADD34 and PCNA in some cells within the peri-infarct zone and in the ependymal cells lining the ventricles.

PCNA

infarct


Input: We propose that hypoxia-induced VEGF release promotes tumor progression, especially in melanomas with Ras or p53 mutations.

VEGF

hypoxia


Input: We genotyped 586 cervical cancer patients for the two most common FLG mutations, R501X and 2282del4, using blood from the Copenhagen Hospital Biobank, Denmark.

FLG

cervical cancer


Input: pVHL was not quantifiable. HIF-1alpha and VEGF-121 participate in adaptation to hypoxia.

VEGF

hypoxia


Input: Moreover, RBPMS2 levels were 64-fold higher in GIST samples with high risk of aggressive behavior than in adult control gastrointestinal samples and 6. 2-fold higher in high risk than in low risk GIST specimens.

aggressive behavior


Input: The expression of CYP1B1 in hyperplasia, SCCs in situ, or in association with inflammation may increase the production of carcinogenic metabolites, which may promote esophageal tumorigenesis.

hyperplasia


Input: Saitohin, which is nested in the tau locus and confers allele-specific susceptibility to several neurodegenerative diseases, interacts with peroxiredoxin 6.

peroxiredoxin 6

neurodegenerative diseases


Input: Using paired samples of normal myometrium and leiomyoma from 6 hysterectomy patients, methylation-sensitive quantitative real-time PCR revealed 14 shared X chromosome genes with an abnormal DNA hypomethylation status (FAM9A, CPXCR1, CXORF45, TAF1, NXF5, VBP1, GABRE, DDX53, FHL1, BRCC3, DMD, GJB1, AP1S2 and PCDH11X) and one hypermethylated locus (HDAC8).

leiomyoma


Input: Exposure of mice to AZT for 5 weeks produced marked anemia, thrombocytopenia, neutropenia, and weight loss, whereas mice that received Epo and heme for 3 subsequent weeks showed significant alleviation of AZT cytotoxicity.

Epo

weight loss

Epo

weight loss


Input: However, there is little genetic evidence that overexpression or knockout of the NPY gene leads to altered body weight regulation.

NPY gene

body weight


Input: To further this discussion, we screened the largest investigated cohort of patients with early-onset bladder cancer for microsatellite instability (MSI) and mismatch repair (MMR) deficiency to determine a possible role of Lynch syndrome in young patients with bladder cancer.

MMR

microsatellite instability


Input: At the age of 6 months, one patient' s eyes already had a refractive error of + 12. 25 D, and over the next 20 years this slowly increased to + 17. 50 D. Adults homozygous for null mutations in MFRP have eyes with axial lengths shorter than those of normal newborns.

MFRP

refractive error


Input: Although ERG abnormalities were detected in all patients tested, more than 40% of patients with RS1 mutations did not have a negative ERG.

ERG

abnormalities


Input: The RUNX1/AML1 gene is known to be the most frequent target for chromosomal translocation in leukemia.

chromosomal translocation


Input: The extracellular calcium Ca2 + o-sensing receptor is expressed in myeloma cells and modulates cell proliferation.

myeloma


Input: Here we report the effect of Pak1 on atherogenesis using atherosclerosis-prone apolipoprotein E-deficient (ApoE (-/-)) mice as a model.

atherogenesis


Input: At least one possible candidate gene for manic depressive illness, pro-melanin-concentrating hormone, is located on chromosome 12q23-q24.

pro-melanin-concentrating hormone

manic depressive illness

pro-melanin-concentrating hormone

manic depressive illness


Input: It has now been well documented that magnetic resonance imaging (MRI) of the breast has a higher sensitivity than mammography for the diagnosis of breast cancer in patients predisposed to breast cancer.

MRI

breast cancer


Input: ACHE knock-out mice were found to suffer normocytic anemia.

ACHE

anemia

ACHE

anemia


Input: Neither COMT nor PRODH mRNA abundance differed between diagnostic groups, nor when controls were compared with all psychotic patients.

PRODH

psychotic


Input: There were significant differences between infertility and GSTM1, CYP1A1 (*) 2C genotypes by univariate analyses.

infertility


Input: Furthermore, LIPH protein was upregulated in the serum of early-and late-phase lung cancer patients when they were analyzed by ELISA.

LIPH

lung cancer


Input: These results demonstrate that TGF-β-induced EMT and CD59 expression confers an immune-evasive mechanism to disseminating tumor cells facilitating tumor progression.

EMT

tumor progression


Input: Low oxygen (hypoxia) and transforming growth factor-β (TGF-β) are two major factors responsible for increased VEGF secretion.

VEGF

hypoxia


Input: PAFR is a G-protein coupled receptor which binds PAF, a potent phospholipid activator involved in many leucocyte functions, platelet aggregation and inflammation.

PAFR

inflammation


Input: In this study, we focus on ES with ERG gene abnormalities, specifically to investigate the prevalence and clinicopathologic features of FUS-ERG fusions in a large cohort of small blue round cell tumors (SBRCTs) and compare to the eight reported FUS-positive ES.

ERG

abnormalities


Input: Proteome analysis of human androgen-independent prostate cancer cell lines: variable metastatic potentials correlated with vimentin expression.

vimentin

prostate cancer

vimentin

prostate cancer


Input: Among these miRNAs, downregulation of miR-638 was found in 68% (34/50) of NSCLC tissues.

NSCLC

NSCLC


Input: Importantly, coexpression of human parkin in LRRK2 G2019S-expressing flies provides significant protection against DA neurodegeneration that occurs with age or in response to rotenone.

neurodegeneration

neurodegeneration


Input: In this study, we investigated the effect of resveratrol, a natural product commonly found in grapes and various other fruits, on hypoxia-induced HIF-1alpha protein accumulation and vascular endothelial growth factor (VEGF) expression in human tongue squamous cell carcinomas and hepatoma cells.

VEGF

hypoxia


Input: Our findings demonstrate that ATP7B trafficking is regulated with its copper-translocation cycle, with cytosolic vesicular localization associated with the acyl-phosphate intermediate.

translocation


Input: The number of podocytes per glomerular section and the podocyte density in glomeruli from rats and mice with streptozotocin (STZ)-diabetes mellitus was determined at several time points based on detection of the glomerular podocyte specific antigens, WT-1 and GLEPP1.

diabetes mellitus


Input: Soluble mast-cell growth factor may cause the characteristic accumulation of mast cells and the hyperpigmentation of skin found in cutaneous mastocytosis.

mast-cell growth factor

hyperpigmentation of skin


Input: Nine lymphoma cell lines, 62 NHL samples including 31 diffuse large B-cell lymphomas (DLBCLs), and 10 benign hyperplastic lymph nodes were analyzed for FHIT transcription using RT-PCR, with DNA sequencing performed where aberrant transcripts were found.

FHIT

lymphoma


Input: NNK could induce RARβ promoter hypermethylation through upregulation of DNMT1 in esophageal squamous epithelial cells, finally leading to enhancement of cell proliferation and inhibition of apoptosis.

esophageal


Input: The active ALDH2 might be one of the factors influencing the individual susceptibility to TCE-induced medicamentosa-like dermatitis.

dermatitis


Input: Post-procedure, patients compared discomfort and inconvenience of MRC and colonoscopy on a visual analogue scale.

MRC

discomfort


Input: This study was undertaken to clarify the associations between tumor budding, E-cadherin-catenin complex, and CD44 variant 6 abnormalities.

abnormalities


Input: Urothelial tumours from 14 patients aged 4 to 19 years were analysed, including FGFR3 and TP53 mutation screening, comparative genomic hybridization (CGH), UroVysion FISH analysis, polymerase chain reaction for human papillomavirus (HPV), microsatellite analysis using the NIH consensus panel for detection of microsatellite instability (MSI) and six markers for loss of heterozygosity on chromosome arms 9p, 9q, and 17p and immunohistochemistry for TP53, Ki-67, CK20 and the mismatch repair proteins (MRPs) hMSH2, hMLH1, and hMSH6.

microsatellite instability


Input: MLH1 and MSH2 were studied by direct sequencing in all the 99 patients, and the study of microsatellite instability and of MMR proteins expression was performed.

MMR

microsatellite instability


Input: Zinc finger E-box Binding homeobox 1 (ZEB1) encodes a transcription factor and is one of the epithelial-mesenchymal transition (EMT)-inducible genes that play a key role in tumor progression in various cancers.

EMT

tumor progression


Input: MLLT3-MLL rearrangement was commonly the sole karyotypic abnormality at diagnosis, with many secondary chromosomal changes emerging at relapse in both subgroups.

secondary


Input: The RNA-binding protein DDX1 promotes primary microRNA maturation and inhibits ovarian tumor progression.

tumor progression


Input: Then, we have investigated whether the 20mer D393-CD20 peptide spanning the splicing site might be targeted by the immune system and we have shown that D393-CD20-specific CD4 Th1 clones could directly recognize malignant B cell lines and kill autologous lymphoma B cells indicating that D393-CD20-derived epitopes are naturally processed and presented on tumor cells.

lymphoma


Input: ABT-431: the diacetyl prodrug of A-86929, a potent and selective dopamine D1 receptor agonist: in vitro characterization and effects in animal models of Parkinson' s disease.

dopamine D1 receptor

Parkinson' s disease

dopamine D1 receptor

Parkinson' s disease


Input: YB-1 and ABCB5 were up regulated in the doxorubicin treated MCF-7 cells that resulted in certain degree of genomic instability that accompanied by the drug resistance phenotype.

genomic instability


Input: We propose that IL-1 and the IL-6 family of cytokines regulate YKL-40 expression during sterile inflammation via both STAT3 and RelB/p50 complexes.

sterile


Input: Overexpression of OSM has not previously been reported in primary human brain tumors.

OSM

brain tumors


Input: Here, we analyzed the MYC and BCL2 abnormalities and other cytogenetic aberrations by fluorescence in situ hybridization (FISH) in 50 MCL patients with bone marrow involvement.

MYC

cytogenetic aberrations


Input: Ucf-101 pre-treatment could significantly inhibit caspases activities and cell apoptosis, reduce TNF-α and MDA levels, slightly reverse CAT activities in the brain and attenuate this CLP effect on cognitive dysfunction.

CLP

cognitive dysfunction


Input: Our data suggest that a decreased expression of the gene encoding the 5-HTT transporter, due to " S " promoter polymorphism, may be associated with an increased availability to experiment illegal drugs among adolescents, particularly in the subjects with more consistent aggressiveness, NS temperament and learning disabilities.

aggressiveness


Input: We investigated 157 drug-naive first-episode schizophrenic patients and found significantly elevated BDNF serum concentrations (by up to 34%) in patients with chronic cannabis abuse (n = 35, p < 0. 001) or multiple substance abuse (n = 20, p < 0. 001) prior to disease onset.

BDNF

cannabis abuse


Input: Quantitative methylation-specific PCR (qMSP) was used to evaluate methylation of four Wnt-antagonists, SFRP2, WIF-1, DKK3 and SOX17 in 18 normal colorectal mucosa samples, 9 colorectal cancer cell lines, 18 carcinomas, 44 nonpolypoid and 44 polypoid adenomas.

carcinomas


Input: The present study sought to determine whether polymorphisms in the ID3 gene were associated with indices of atherosclerosis in humans and if loss of Id3 function modulated atherogenesis in mice.

atherogenesis


Input: A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.

palmoplantar keratoderma with deafness

palmoplantar keratoderma with deafness


Input: In addition, two target proteins that are frequently overexpressed during tongue cancer tumorigenesis, alphaB-crystallin and Hsp27, were examined by immunohistochemical analysis.

tongue cancer

tongue cancer


Input: Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.

Isobutyryl-CoA dehydrogenase deficiency

Isobutyryl-CoA dehydrogenase deficiency


Input: There was no optimal cut-off level of the bleeding score that could predict FXI deficiency.

FXI

bleeding


Input: Leptin receptor antagonist (leptin quadruple mutant) and dual endothelin A endothelin B (ETA/ETB) receptor blocker bosentan normalized such abnormalities.

ETB

abnormalities


Input: The frequency of the bcl-2/Ig gene rearrangement is estimated to be of one translocation in 1 x 10 (2) to 1 x 10 (3) peripheral blood mononuclear cells.

translocation


Input: The congenital hearing loss involving neurodegeneration of SGNs as well as megacolon disease in Ednrb (-/-) mice were markedly improved by introducing an Ednrb transgene under control of the dopamine β-hydroxylase promoter (Ednrb (-/-); DBH-Ednrb mice) on P19.

DBH

congenital hearing loss


Input: GHRH antagonists suppress the growth of various human cancer lines xenografted into nude mice; such tumors include breast, ovarian, endometrial and prostate cancers, lung cancers (small-cell lung carcinomas and non-small-cell lung carcinomas), renal, pancreatic, gastric and colorectal carcinomas, brain tumors (malignant gliomas), osteogenic sarcomas and non-Hodgkin' s lymphomas.

GHRH

brain tumors


Input: NONO and RALY proteins are required for YB-1 oxaliplatin induced resistance in colon adenocarcinoma cell lines.

colon adenocarcinoma


Input: In vitro, hypoxia-inducible expression of ADM mRNA was evaluated in human choriocarcinoma cells (BeWo) and human leukocytes exposed to hypoxia (1% O (2)) for 1-24 h. mRNA levels were measured by TaqMan real-time PCR.

ADM

hypoxia


Input: The phenotypes of the patients carrying RBFOX1 deletions comprise magnetic resonance imaging (MRI)-negative epilepsy of unknown etiology with frontal and temporal origin (n = 5) and two patients with temporal lobe epilepsy with hippocampal sclerosis.

MRI

temporal lobe epilepsy


Input: Targeting the ROR1 and ROR2 receptors in epithelial ovarian cancer inhibits cell migration and invasion.

epithelial ovarian cancer


Input: We have been unable to find a similar disorder in the literature, and suggest that this is a hitherto unreported autosomal recessive disorder, which we propose to name MRAMS (mental retardation, anterior maxillary protrusion, and strabismus).

MRAMS

mental retardation, anterior maxillary protrusion, and strabismus

MRAMS

mental retardation, anterior maxillary protrusion, and strabismus


Input: Given the role of QKI in determination of oligodendrocyte fate, these results not only confirm oligodendrocyte-related gene expression abnormalities in schizophrenia but suggest that the physiology of glial progenitor cells may be altered in schizophrenia.

QKI

abnormalities


Input: A 34-year-old woman with balanced Robertsonian translocation [(45, XX, der (13; 14) (q10; q10)] requested PGD due to recurrent spontaneous abortion.

spontaneous abortion


Input: A human cDNA for amino acid transport system x (C) (-) was isolated from diethyl maleate-treated human glioma U87 cells.

glioma


Input: We show here that exogenous expression of a familial AD (FAD) mutant of APP or of the APP binding protein APP-BP1 in neurons causes enlargement of early endosomes, increased receptor-mediated endocytosis via a pathway dependent on APP-BP1 binding to APP, and apoptosis.

FAD

enlargement


Input: To date, mutations have been identified in six genes (PIGA, PIGL, PIGM, PIGN, PIGO, and PIGV) encoding proteins in the GPI-anchor-synthesis pathway in individuals with severe neurological features, including seizures, muscular hypotonia, and intellectual disability.

PIGM

intellectual disability


Input: In addition, Erbb2 dampens UV-induced S-phase arrest, augments inflammation in response to UV irradiation, and suppresses UV-induced apoptosis.

inflammation