Input: LIF was up-regulated in the hippocampus, cortex and meninges after seizures, and LIFR mRNA was induced in the hippocampus and cortex.

LIFR

seizures


Input: Moreover, considering the possible role of vitamin D in the inflammation mechanisms, we also aimed at measurement of some inflammatory mediators such as TNF-α, IL-1β, IL4, IL-6, IL10, IL13 and IL17 in inflammatory state in samples obtained from obese persons with and without positive family history of cancer.

inflammation


Input: Potential mutation hot spots were confirmed in 15 genes; ADAR, DCAF12L2, GLT1D1, ITGA7, MAP1B, MRGPRX4, PSRC1, RANBP2, RPS6KL1, SNCAIP, TCEAL6, TUBB6, WBP5, VEGFB, and ZBTB2; these were validated in 86 tumors with microsatellite instability.

tumors


Input: Variants in follicle-stimulating hormone receptor gene in infertile Brazilian men and the correlation to FSH serum levels and sperm count.

follicle-stimulating hormone receptor

infertile


Input: We evaluate whether AAV-mediated gene replacement therapy is able to improve photoreceptor function and survival in retinal degeneration associated with AIPL1 defects.

retinal degeneration


Input: Deletions of AXIN1, a component of the WNT/wingless pathway, in sporadic medulloblastomas.

sporadic


Input: MPs of Cx3cr1 (-/-) mice that develop MP accumulation on the RPE, photoreceptor degeneration, and increased choroidal neovascularization similarly express high levels of APOE.

RPE

choroidal neovascularization


Input: Especially, dysfunction of excitatory amino acid transporter type 3 (EAAT3) can lead to seizures.

seizures

seizures


Input: To test our hypothesis and to examine these issues, we immunostained 60 specimens entailing normal brain tissues, gliosis, and gliomas (Grade I, II, III, IV) for p53, BCL-2, and hMSH2 protein expression.

gliosis


Input: In this review we provide a short background on lamin A and its maturation pathway and discuss the current knowledge of how progerin or alterations in the prelamin A processing pathway are thought to influence cell function and contribute to human aging.

prelamin A

aging


Input: To investigate the relationship between the expression of FOXM1, CEP55, and HELLS in oropharyngeal squamous cell carcinoma to human papillomavirus (HPV), smoking, and tumor stage.

smoking


Input: We also studied the effect of NF-kappaB inhibition in human HCC cells exposed to oxidative stress, by infecting HuH7 cells with a recombinant adenovirus carrying mutant IkappaBalpha (mIkappaBalpha).

HCC

adenovirus


Input: In the present study, we have investigated the extent of amyloid beta protein (Abeta) deposition as cerebral amyloid angiopathy (CAA) or senile plaques (SP) in relationship to OLR1 + 1071 and + 1073 polymorphisms and LRP1 C766T polymorphism in patients with AD There was an increased Abeta40 load as CAA, but not as SP, in frontal cortex of AD patients carrying OLR1 + 1073 CC genotype, compared to those with CT, TT or CT + TT genotypes, but only in those individuals without apolipoprotein (APOE) epsilon4 allele.

cerebral amyloid angiopathy


Input: BMR adjusted for lean body mass, age and sex (adjBMR) was similar among the three UCP1 gene genotypes of obese subjects (AA n = 90, AG n = 72 or GG n = 8).

UCP1 gene

lean body mass


Input: This study shows a role of cPLA (2) & #945; in luminal breast cancer progression, in which the enzyme could represent a novel therapeutic target and a predictive marker.

cPLA (2

breast cancer

cPLA (2

breast cancer


Input: Moreover, overexpression of SLIT2 in SMMC-7721 cells induced by recombinant adenovirus suppressed cell growth, migration, and invasion, These results suggest that epigenetic inactivation of SLIT2 in HCC may be important in the development and progression of HCC.

HCC

adenovirus


Input: In contrast to morphologically normal and hyperplastic structures in NRL-PRL females, carcinomas were insensitive to ERα-mediated signals.

NRL

carcinomas


Input: α-MD-G-stimulated jejunal NHE3 activity was defective in NHERF2-/-mice and cells with NHERF2 knockdown, but occurred normally with NHERF1 knockdown; was associated with increased NHE3 surface expression in Caco-2 cells, which also was NHERF2-dependent; was associated with dissociation of NHE3 from NHERF2 and an increase in the NHE3 mobile fraction from the brush border; and was accompanied by a NHERF2 ezrin-radixin-moesin-binding domain-dependent increase in co-precipitation of ezrin with NHE3.

dissociation


Input: These findings further establish GIP to be involved in the regulation of bone density.

GIP

bone density


Input: This translocation generates a chimeric transcription factor, EWS-WT1, which consists of the transcriptional activation domain of the Ewing' s sarcoma (EWS) protein and the DNA binding domain of the Wilms' tumor 1 (WT1) protein.

EWS

translocation


Input: The patient had hypercalcaemia associated with increased calcitriol serum levels; circulating interleukin-6 and tumour necrosis factor alpha levels were also elevated.

hypercalcaemia

hypercalcaemia


Input: These findings could have important implications for the molecular diagnosis in patients with isolated SMCP and/or unexplained choanal atresia.

SMCP

choanal atresia


Input: Top-ranked endophenotypes included the Beck Depression Inventory, bilateral ventral diencephalon volume, and expression levels of the RNF123 transcript.

Depression

Depression


Input: To validate ENA-78 as a statin target in inflammation typical of ACS, endothelial cells (HUVECs) were treated with IL-1beta and atorvastatin with subsequent quantification of CXCL5 expression and ENA-78 protein concentrations.

inflammation


Input: Reintroduction of SGNE1 into the medulloblastoma cell line D283Med led to a significant growth suppression and reduced colony formation.

medulloblastoma

medulloblastoma


Input: When the HCT-116 colorectal cancer cells were exposed to heat shock in the presence of cantharidin, the induction of HSF1 downstream target proteins, such as HSP70 and BAG3 (Bcl-2-associated athanogene domain 3), was suppressed.

shock


Input: Several genes and transcripts involved in lipolysis were down-regulated, such as AKAP1, PRKAR2B, Gi and CIDEA, whereas NPY1R and CES1 were up-regulated, when comparing obese to lean subjects.

obese

obese


Input: SRD5A2 is associated with increased cortisol metabolism in schizophrenia spectrum disorders.

schizophrenia

schizophrenia


Input: Phosphoprotein enriched in astrocytes of 15 kDa (PEA-15) is known to sequester extracellular signal-regulated kinase (ERK) in the cytoplasm, inhibiting tumorigenesis of human breast cancer cells.

tumorigenesis


Input: We screened individuals for lumican and fibromodulin sequence alterations from the original MYP3 family, and from a second high grade myopia pedigree that showed suggestive linkage to both the MYP3 interval and to chromosome 1q32.

fibromodulin

myopia


Input: We report a case of acute sacroiliitis with severe disability after only 3 weeks of isotretinoin therapy with graduate reduction of pain, limitation and muscle incompetence after discontinuation of the drug and ACTH-depo injection and Ethodolac therapy.

ACTH

sacroiliitis

ACTH

sacroiliitis


Input: In a secondary analysis of these 6 genes among parent-proband trios with a history of psychosis, evidence of the association with SIAT4A was strengthened.

psychosis

psychosis


Input: PTEN/MMAC1 (phosphatase, tensin homologue/mutated in multiple advanced cancers) is a tumor suppressor protein that has sequence homology with dual-specificity phosphatases, which are capable of dephosphorylating both tyrosine phosphate and serine/threonine phosphate residues on proteins.

tensin

cancers


Input: Finally, AC-73 attenuated progression in an orthotopic nude mouse model of liver metastasis, suggesting that AC-73 or its derivatives have potential for use in HCC intervention.

HCC

liver metastasis


Input: In this study, we investigated whether PKB/Akt in primary sensory neurons is activated after noxious stimulation and contributes to pain behavior induced in rats by capsaicin.

PKB

pain

PKB

pain


Input: It is possible that genetic variants of the NPY1R gene affect the NPY-NPY receptor type Y1 signaling system in the brain, which may result in susceptibility to methamphetamine dependence or the development of methamphetamine psychosis, but the present findings need to be confirmed on replication.

psychosis

psychosis


Input: Functional role of Annexin A1 in tumorigenesis is poorly understood.

Annexin A1

tumorigenesis


Input: As 25% of sporadic PCCs harbor somatic neurofibromin 1 gene (NF1) mutations, NF1 has been established as the most recurrently mutated gene in PCCs.

neurofibromin 1 gene

sporadic


Input: Plasma RBP4 was significantly elevated in impaired glucose tolerance/T2DM compared with NGT lean or obese subjects.

impaired glucose tolerance


Input: CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.

melanoma

melanoma


Input: Here, we test the hypothesis that delivery of a transactivator of transcription (TAT)-p27 fusion protein (TAT. p27) will improve cardiac function and survival in a rat model of myocardial infarction (MI).

TAT

myocardial infarction


Input: Pre-treatment with exogenous NPY markedly reduced nasal airway obstruction and rhinorrhea induced by the irritant capsaicin in control subjects.

NPY

nasal airway obstruction

NPY

nasal airway obstruction


Input: In DDX10 and NUP98, the inv (11) breakpoints occurred within two introns of each gene and the two genes merged in-frame to produce the chimeric transcripts characteristic of this translocation.

translocation


Input: In animal models, v-ATPase mutations perturb the retinal pigment epithelium (RPE) and photoreceptor outer segment (OS) phagocytosis, an event linked to retinal degeneration.

RPE

retinal degeneration


Input: Taken together, our findings indicate that down-regulation of Rap1GAP via promoter hypermethylation promotes melanoma cell proliferation, survival, and migration.

melanoma

melanoma


Input: Further analysis and data mining for two genes, the Insulin like Growth Factor Binding protein 3, and Retinoic X Receptor alpha, demonstrates an association with prostate cancer, functional pathway links, and protein-protein interactions that make these genes prime candidates for explaining the mechanism of Selenium' s chemopreventive effect in prostate cancer.

Insulin like Growth Factor Binding protein 3

prostate cancer

Insulin like Growth Factor Binding protein 3

prostate cancer


Input: A chronic administration of ANG-(1-7) increased the plasma ANP level and attenuated isoproterenol-induced cardiac hypertrophy.

ANG

cardiac hypertrophy


Input: BRCA1-associated cancers showed microlobulated margins in 53. 3% versus 33. 8% (sporadic) and 33. 3% (BRCA2).

sporadic


Input: The results indicate that centrally applied AVP and ANP exert differential effects on blood pressure and baroreflex control of heart rate in WKY and SHR and suggest interaction of these two peptides in blood pressure regulation at the level of central nervous system.

ANP

heart rate


Input: Using luciferase reporter plasmids in glioma cells, we found that hypoxia dramatically increased luciferase activity in cells with constructs containing Egr-1-binding sites but not in cells with constructs containing AP-1-or NF-kappaB-binding sites.

hypoxia


Input: In conclusion, Folbp1 and RFC1 genetically modified mice exhibit distinct changes in colonocyte phenotype and therefore have utility as models to examine the role of folate homeostasis in colon cancer development.

colon cancer

colon cancer


Input: We evaluated the effect of HSP induction in an in vitro atrial cell line (HL-1) model of tachycardia remodeling and in tachypaced isolated canine atrial cardiomyocytes.

tachycardia


Input: Conditionally replicative adenovirus (CRAd) mediated tumor specific gene therapy based on transcriptional control is considered a new direction for the treatment of cancer.

CRAd

cancer


Input: Eye anomalies and neurological manifestations in patients with PAX6 mutations.

neurological manifestations


Input: After the experiment, the lung weight was obtained and lung tissues were taken for the determination of mRNA expression of inducible nitric oxide synthase (iNOS), tumor necrosis factor alpha (TNF-alpha), interleukin-1beta (IL-1beta) and manganese superoxide dismutase (MnSOD).

manganese superoxide dismutase

weight


Input: Restoring Akt activation in gastric cancer cells largely blocked the inhibition of PI3K/Akt signaling by SHIP2 and reversed the inhibitory effect of SHIP2 on tumorigenesis and proliferation.

tumorigenesis


Input: HBsAg inhibits the translocation of JTB into mitochondria in HepG2 cells and potentially plays a role in HCC progression.

HCC

translocation


Input: Our data further underscore the critical role of IL36RN in pathogenesis of GPP.

GPP

GPP


Input: We aimed to test whether sporadic CGCL of the jaws share the H3F3A mutations reported in GCT of other bones.

sporadic


Input: It is reasonable to believe that the main laboratory pathology (APA and/or LA activity) in antiphospholipid syndrome is related to the clinical picture of a hypercoagulable state.

APA

hypercoagulable state


Input: Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

Woodhouse-Sakati syndrome

Woodhouse-Sakati syndrome


Input: These data support the hypothesis that galanin may have a role in functions related to mood states, including affective disorders.

galanin

affective disorders

galanin

affective disorders


Input: IL-19 demonstrated the highest expression in rheumatoid joints, and could thus be involved in the regulation of synovial inflammation in RA.

inflammation


Input: In order to assess the role of these genes in sporadic RER + colorectal carcinoma, we have carried out a mutation analysis of MSH2 and MLH1 by two-dimensional (2-D) DNA electrophoresis, including heteroduplexing and separation in a denaturing gradient.

colorectal carcinoma

colorectal carcinoma


Input: Novel FAM126A mutations in hypomyelination and congenital cataract disease.

hypomyelination and congenital cataract

hypomyelination and congenital cataract


Input: While comparing the results, respectively in groups, the mean levels in blood serum were as follows: RANTES 31, 429. 79 pg/ml (from 26, 576. 6-99, 605. 00) vs. 26, 988. 72 pg/ml (from 26, 013. 58-113, 435. 00) for p = 0. 428; CRP and WBC 2. 13 vs. 1. 54 mg/l; p = 0. 076 and 5. 35 vs. 6. 7; p = 0. 029; fibrinogen 3. 12 vs. 2. 57 mg%; p < 0. 001); iron level 87. 20 vs. 78. 01 ug/dl for p = 0. 430, and CA-125 36. 50 vs. 15. 08 U/ml; p < 0. 001).

RANTES

fibrinogen


Input: In the present study, the potential role of AHR signaling in the development of left ventricular hypertrophy and cardiac fibrosis by angiotensin II (Ang II) infusion was investigated in mice lacking the AHR gene (Ahr & lt; sup & gt;-/-& lt;/sup & gt;).

angiotensin II

left ventricular hypertrophy

angiotensin II

left ventricular hypertrophy


Input: Hence, we have examined whether the NPSR1 A/T polymorphism is associated with alcohol use disorders (AUD) and alcohol use in a population-representative sample.

alcohol use


Input: In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature.

NF1 gene

pale


Input: The association with major depression, suicide, and panic disorder of a new functional 5-HT1A polymorphism at C (-1019) G that selectively blocks repression of the 5-HT1A autoreceptor by NUDR further suggests a causative role for altered regulation of this receptor in predisposition to mental illness.

NUDR

major depression

NUDR

major depression


Input: Three of the infants were healthy after birth, and 1 premature infant, who had an ABCB4 mutation, experienced transient neonatal cholestasis.

neonatal cholestasis


Input: To evaluate the incidence of c-myc rearrangements in human plasma cell dyscrasias, sets of probes were generated to allow direct assessment of c-myc translocations on interphase plasma cells by using fluorescence in situ hybridization.

c-myc

plasma cell dyscrasias


Input: This study evaluated the incidence of GRTH/DDX25 gene mutations in a group of infertile patients with non-obstructive azoospermia (NOA), 85% with a preponderance of Sertoli cells in the seminiferous tubule and 15% with spermatogenic arrest, and compared them to a group of fertile subjects.

GRTH

infertile


Input: Intracortical porosities and marrow fibrosis are hallmarks of hyperparathyroidism and are present in bones of transgenic mice expressing constitutively active parathyroid hormone/parathyroid hormone-related protein receptors (PPR * Tg).

parathyroid hormone

fibrosis


Input: We performed bioinformatics analyses of The Cancer Genome Atlas (TCGA) dataset to evaluate the association between miR-106a and its putative target lipopolysaccharide-induced TNF-& #945; factor (LITAF) in prostate cancer.

prostate cancer

prostate cancer


Input: Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.

troponin T

familial dilated cardiomyopathy


Input: Further, OCL precursors from transgenic mice in which TAF12 expression was targeted to the OCL lineage (tartrate-resistant acid phosphatase [TRAP]-TAF12 mice), formed OCLs at very low levels of 1, 25-(OH) ₂D₃, although the OCLs failed to exhibit other hallmarks of PD OCLs, including receptor activator of NF-κB ligand (RANKL) hypersensitivity and hypermultinucleation.

hypersensitivity


Input: Western blots revealed overexpression of & #946;-catenin, c-Myc, cyclin D1, inducible nitric oxide synthase and cyclooxygenase-2 in colon tumor samples.

colon tumor

colon tumor


Input: These results suggest that low density of GFAP-IR astrocytes in the PLC of P rats predates the exposure to alcohol and might be a factor contributing to the increased risk for alcohol dependence.

GFAP

alcohol dependence

GFAP

alcohol dependence


Input: SFN also inhibited the growth of prostate cancer xenografts and spontaneous intestinal polyps in mouse models, with evidence for altered histone acetylation and HDAC activities in vivo.

HDAC

intestinal polyps


Input: Here, the authors further investigated whether hypobaric hypoxia preconditioning (HHP) improved the MODS in heatstroke by up-regulation of HSP70.

hypoxia


Input: However, GH plus IGF-I (but not either agent alone) induced a 25% decrease in the relative weight of inguinal fat.

IGF-I

weight


Input: Possible effect of gene polymorphisms on the release of TNF & #945; and IL1 cytokines in coal workers' pneumoconiosis.

coal workers' pneumoconiosis

coal workers' pneumoconiosis


Input: Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.

Holt-Oram syndrome

Holt-Oram syndrome


Input: The aim of this study was to determine the prevalence of C-482T/T-455C variants in the Apolipoprotein C3 (APOC3) promoter gene and Human leukocyte antigen (HLA)-B * 57: 01, known to impact lipid metabolic disorders and hypersensitivity respectively; and to correlate genotypes with gender, CD4 + cell count and viral load in an HIV infected cohort in northern South Africa.

viral load


Input: We examined the expression of matrilysin mRNA in sporadic and hereditary colorectal adenomas to clarify the role of matrilysin in tumorigenesis.

matrilysin

sporadic


Input: Disruption of the C5a receptor gene increases resistance to acute Gram-negative bacteremia and endotoxic shock: opposing roles of C3a and C5a.

endotoxic shock

endotoxic shock


Input: We examined the effects of wild-type and mutant atlastin-1 on vesicle transport in the endoplasmic reticulum (ER)-Golgi interface and vesicle budding from ER-derived microsomes using the temperature-sensitive reporter vesicular stomatitis virus glycoprotein (VSV-G), and the ability of purified atlastin-1 to form tubules or vesicles from protein-free phosphatidylserine liposomes.

atlastin

stomatitis


Input: In a recent analysis of myelodysplastic syndromes (MDS) associated with deletion of chromosome 5q, we observed that an ALC < 1. 2x 10 (9) cells/L at diagnosis is independently associated with poorer survival.

ALC

myelodysplastic syndromes


Input: The present study examined the phenotypic and genetic association between borderline personality and FFM personality traits.

FFM

borderline personality


Input: The molecular defect of uroporphyrinogen decarboxylase (UROD) was examined in a patient with mild hepatoerythropoietic porphyria.

UROD

mild


Input: In this study, 67 sporadic CRC and eight samples of normal bowel were analysed for MSI status (by SSCP) and levels of MLH1, MSH2 and p53 gene transcription (by RT-PCR and scanning densitometry).

p53 gene

sporadic


Input: Data show that GRS is able to discriminate diffused forms of periodontitis from localized ones.

GRS

periodontitis


Input: In this study, SPAST and ATL1 mutations were screened in 36 unrelated HSP patients (17 probands with AD family history and 19 sporadic HSP patients) by direct sequencing and multiplex ligation dependent probe amplification (MLPA).

sporadic


Input: Nine patients (3. 2%) had active B19 infection with positive IgM antibody, with four diagnosed as having idiopathic thrombocytopenic purpura (ITP).

idiopathic thrombocytopenic purpura


Input: Here we investigated whether astrocytic contents of the major glutamate degrading enzymes glutamine synthetase (GS) and glutamate dehydrogenase (GDH) decreases on moving from the latent phase (prior to seizures) to the chronic phase (after onset of seizures) in the kainate (KA) model of temporal lobe epilepsy.

GDH

seizures


Input: An analysis of human cancers showed that PHGDH is recurrently amplified in a genomic region of focal copy number gain most commonly found in melanoma.

PHGDH

melanoma

PHGDH

melanoma


Input: The roles of ASS1 in tumorigenesis and the therapeutic relevance of the arginine-depriving agent pegylated arginine deiminase (ADI-PEG20) were elucidated in ASS1-deficient myxofibrosarcoma cell lines and xenografts with and without stable ASS1 reexpression.

tumorigenesis


Input: Fifty GAS isolates cultured from throats of north Indian children aged 5-15 yr with mild pharyngitis (20), severe pharyngitis (24) and asymptomatic pharyngeal carriers (6), during 2000-2003 along with reference M1 strain were emm typed and characterized for virulence factors genes by PCR.

GAS

asymptomatic


Input: The RB1 gene from 12 human retinoblastoma tumors has been analyzed exon-by-exon with the single-strand conformation polymorphism technique.

retinoblastoma

retinoblastoma


Input: These results support the possibility that variation in the 3' untranslated region of LPL affects LPL expression and activity, consequently influencing risk of atherosclerosis and insulin resistance, and provides important tools for further dissection of LPL regulation.

LPL

insulin resistance


Input: Frequencies of methylated RASSF1A, CDH13, CACNA1A, HIN-1, and sFRP5 genes in OCCA tissues were significantly higher than those in non-OCCA cancerous tissues and benign endometriotic cysts.

cysts


Input: A longitudinal study was conducted to evaluate the association of the SDF1 polymorphism and the progression of HIV-1 infection in 161 asymptomatic patients infected with HIV-1 (ASYMPT) and 617 patients with AIDS (SYMPT) from Londrina and the surrounding region, southern Brazil.

asymptomatic


Input: The mRNA expression of ten housekeeping genes (ACTB, ARF1, CANX, G6PD, GAPDH, GPS1, GNB2L1, PSMB2, PSMD2, RPL32) was investigated by qRT-PCR in BAL cells from 71 subjects across a spectrum of lung diseases.

CANX

lung diseases


Input: The drug product TPI ASM8 contains two modified phosphorothioate antisense oligonucleotides designed to inhibit allergic inflammation by down-regulating human CCR3 and the common beta chain (beta (c)) of IL-3, IL-5, and granulocyte-macrophage colony-stimulating factor receptors.

common beta chain

inflammation


Input: In all, 141 men were grouped into fertile men (n = 60) and infertile OAT men (n = 81).

OAT

infertile


Input: Here, we hypothesized that inhibition of one or several specific HDAC isoforms by selective HDAC inhibitors could potently induce EBV lytic cycle in EBV-associated malignancies such as nasopharyngeal carcinoma (NPC) and gastric carcinoma (GC).

HDAC

nasopharyngeal carcinoma


Input: This study analysed 12 single-nucleotide polymorphisms (SNPs) in selenoprotein genes [glutathione peroxidase 1 (GPX1), GPX4, 15 kDa selenoprotein (SEP15), selenoprotein S (SELS), selenoprotein P (SEPP1) and thioredoxin reductase 2 (TXNRD2)] and in genes that code for a key protein in Se incorporation [SECIS-binding protein 2 (SBP2)] and in antioxidant defence [superoxide dismutase 2 (SOD2)] in relation to sporadic CRC incidence.

sporadic


Input: SHIP2 knockout mice were originally reported to show lethal neonatal hypoglycemia resulting from insulin hypersensitivity, but in addition to inactivating the SHIP2 gene, the Phox2a gene was also inadvertently deleted.

Phox2a gene

hypersensitivity


Input: Here we have identified XPF mRNA mutations and examined levels of the mRNA and protein expression in seven primary cell strains from Japanese XP-F patients.

XPF

XP-F

XPF

XP-F


Input: Chronic alcohol intake led to elevated AST-, ALT-levels, bilirubin, AST/ALT ratio, cholesterol, hepatic triglycerides and hepatic fat deposition as evidenced by H & E and Oil Red O staining.

AST

alcohol intake


Input: In this report, we identified a solid role for mda-7/IL-24 in invasion inhibition of human melanoma cancer LiBr cells, including decreasing of adhesion and invasion in vitro, blocking cell cycle, down-regulating the expression of ICAM-1, MMP-2/9, CDK1, the phosphorylation of ERK and Akt, NF-κB and AP-1 transcription activity.

adhesion


Input: Primary pulmonary myxoid sarcomas with EWSR1-CREB1 translocation might originate from primitive peribronchial mesenchymal cells undergoing (myo) fibroblastic differentiation.

translocation


Input: The analysis of covariance revealed that CYBA risk alleles and their haplotypes, rs8854A/rs9932581G/rs4873C and rs8854G/rs9932581G/rs4873C, were positively correlated with clinical parameters, for example, systolic blood pressure (SBP), diastolic blood pressure (DBP) and mean arterial pressure (MAP), and biochemical parameters, for example, 8-isoPGF2α level, and inversely correlated with catalase activity in patients compared with controls (P ⩽ 0. 01, each).

DBP

systolic blood pressure


Input: Using 38 interactors as candidates, linkage and sequencing analysis of 250 patients identified ATXN10 and TCTN2 as new NPHP-JBTS genes, and our Tctn2 mouse knockout shows neural tube and Hedgehog signaling defects.

NPHP

NPHP


Input: Moreover, the effects of GT-094 on Sp1, Sp3, Sp4, miR-27a, and ZBTB10 were also inhibited by glutathione suggesting that the anticancer activity of GT-094 in colon cancer cells is due, in part, to activation of an ROS-miR-27a: ZBTB10-Sp transcription factor pathway.

colon cancer


Input: This study demonstrates that doxycycline significantly delays aneurysm rupture in MFS-like mice by inhibiting expression of tissue MMP-2 and MMP-9 and thus, degradation of the elastic matrix.

MFS

MFS


Input: Mutations of SNPs (rs2075596, rs2239464) of MeCP2 showed increased risk of developing SLE.

SLE

SLE


Input: We examined 14 Japanese patients with sporadic LGMD for calpain 3 mutations, and found four mutations in five patients.

calpain 3

sporadic


Input: We evaluated BRG1 and INI1 expression in 12 SCCOHTs and in a series of 122 tumors that could mimic SCCOHT morphologically: 9 juvenile granulosa cell tumors, 47 adult granulosa cell tumors, 33 high-grade ovarian serous carcinomas, 9 desmoplastic round cell tumors, 13 Ewing sarcomas (5 from the pelvis and 8 from soft tissues), 1 round cell sarcoma associated with CIC-DUX4 translocation from soft tissue (thigh), 1 case of high-grade endometrial stromal sarcoma of the ovary, and 9 melanomas.

translocation


Input: We found a monotone positive significant correlation between the newborn' s risk of childhood obesity and the mother' s TST (P = 0. 01), as well as a tendency toward statistical significance concerning correlation with mother' s MUAC (P = 0. 053), without any correlations with the mothers' bioimpedance parameters and also a positive correlation between the newborn' s risk of childhood obesity and the newborn' s anthropometrical characteristics like body mass index (BMI), MUAC, and TST (P < 0. 001).

TST

body mass index


Input: In sarcoidosis, IL-12R was expressed both on CD4 + ve and CD8 + ve cells.

sarcoidosis


Input: CONCLUSIONS/INTERPRETATION: SNP in the TCF7L2 gene are associated with differences in insulin secretion, blood pressure, blood lipids and coagulation in MetS patients, and may be modulated by SFA in plasma or IR.

TCF7L2 gene

blood pressure


Input: MUC1 and MUC2 mucin expression was examined in biopsy specimens from 80 patients that comprised 23 laryngeal dysplasias, 36 laryngeal carcinomas, and 21 normal larynx control specimens.

larynx


Input: Mutations in the PINK1 gene have been shown to cause autosomal recessive Parkinson' s disease (PD) and/or early onset sporadic PD in Italy, Spain, North America, Ireland, and Asia.

PINK1 gene

sporadic


Input: Fluorescence in situ hybridization (FISH) for analysis of CCND1 copy number changes was applied on a collection of 1 006 ovarian tumors--468 malignant, 48 with low malignant potency, and 490 benign tumors--arranged in tissue microarray.

FISH

benign tumors


Input: We mapped PAH-related signaling pathways, including estrogen receptor, liver X factor/retinoic X receptor, transforming growth factor-β (Smads), and hypoxia (hypoxia response element), that regulated levels of all pri-miR stem loop transcription and resulting microRNA expression.

X receptor

hypoxia


Input: Removal of the Ca2 + by a chelator, BAPTA-AM, efficiently inhibited Cd-induced necrosis.

necrosis


Input: We have examined polymorphisms at two non-major histocompatibility complex candidate susceptibility loci in sporadic (non-APS1) AAD: the cytotoxic T lymphocyte antigen-4 (CTLA-4) gene and the autoimmune regulator (AIRE-1) gene.

sporadic


Input: Given the role of GAP-43 in the establishment and reorganization of synaptic connections, the finding of selective reduction of this protein in prefrontal cortex suggests that a dysfunctional synaptic organization in this region may be associated with depression and suicidal behaviour.

depression

depression


Input: To test the hypothesis that MSCs alone or endothelial nitric oxide synthase (eNOS)-modified MSCs can be used for treatment of erectile dysfunction (ED), syngeneic rat MSCs (rMSCs) were isolated, ex vivo expanded, transduced with adenovirus containing eNOS, and injected into the penis of aged rats.

endothelial nitric oxide synthase

erectile dysfunction

endothelial nitric oxide synthase

erectile dysfunction


Input: Possibly, a subpopulation of NIDDM patients exists displaying variation in the GLUT-4 gene.

NIDDM

NIDDM


Input: Thus, BCR-ABL1 or FLT3/ITD induces c-MYC expression, leading to genomic instability via augmented expression of ALT-NHEJ repair factors that generate repair errors.

BCR

genomic instability


Input: Therefore, using the lithium-pilocarpine status epilepticus model, we performed a detailed in situ hybridization time-course study of five gp130 cytokines (interleukin [IL]-6, leukemia inhibitory factor [LIF], IL-11, oncostatin-m [OSM], and ciliary neurotrophic factor), gp130, and the receptors of the cytokines we found to be induced (IL-6 receptor [IL-6R], LIF receptor [LIF-R], and IL-11 receptor [IL-11R]).

LIF

status epilepticus


Input: Thus, the PLTP gene is highly expressed in alveolar type II epithelial cells and is induced during hypoxia and in emphysema.

PLTP gene

hypoxia


Input: To evaluate thyroid structure and function in patients with enlargement of the vestibular aqueduct (EVA) and sensorineural hearing loss.

EVA

enlargement


Input: We have previously demonstrated reduced expression of GABA (B) receptor subunits 1 and 2 (GABBR1 and GABBR2) in the lateral cerebella of subjects with schizophrenia, bipolar disorder and major depressive disorder.

major depressive disorder

major depressive disorder


Input: The translocation results in the fusion of two genes, collagen type I alpha 1 (COL1A1) and platelet-derived growth factor B-chain (PDGFB).

factor B

translocation


Input: In contrast, ATF3 or ATF4 overexpression in nucleus accumbens decreases emotional reactivity and increases depression-like behavior, consistent with the behavioral phenotype induced by CREB.

depression

depression


Input: FSH receptor gene polymorphisms in fertile and infertile Italian men.

FSH receptor

infertile


Input: Our data add new variants to the repertoire of ADAR mutations in DSH.

ADAR

DSH

ADAR

DSH


Input: Infection of C3H IL-10 (-/-) mice led to increased joint swelling and arthritis severity scores over those of wild-type C3H mice.

joint swelling


Input: The close association of neurofibromatosis type 1 (NF1) with gliomas raises the question of whether the NF1 gene may be involved in the pathogenesis of sporadic astrocytic brain tumors.

NF1 gene

sporadic


Input: Although both wt-LPL-EGFP and 5A7A-LPL-EGFP were targeted to, and promote the formation of, vinculin-containing adhesion sites, static adhesion to either Matrigel or isolated extracellular matrix molecules was neither influenced by expression of wt-LPL-EGFP nor by expression of 5A7A-LPL-EGFP when compared with EGFP expressing control cells.

LPL

adhesion


Input: The expression levels of amphiregulin on histological sections obtained from 40 subjects with asthma and 6 healthy control subjects were estimated by immunohistochemical staining, and the correlation with the number of goblet cells was studied.

amphiregulin

asthma

amphiregulin

asthma


Input: The hNOG mice showed marked, long-lasting viremia after infection with both CCR5-and CXCR4-tropic HIV-1 isolates for more than the 40 days examined, with R5 virus-infected animals showing high levels of HIV-DNA copies in the spleen and bone marrow, and X4 virus-infected animals showing high levels of HIV-DNA copies in the thymus and spleen.

viremia


Input: Relative to untreated participants, those with drug-resistant viremia had 29% fewer activated CD4 (P = 0. 051) and CD8 (P = 0. 012) T cells after adjustment for plasma HIV RNA levels among other factors.

viremia


Input: These results established a detailed molecular mechanism that underlies the ability of SKI to cause cellular transformation while unraveling a novel connection between sumoylation and tumorigenesis, providing potential new therapeutic targets for cancer.

SKI

tumorigenesis


Input: Focusing on apoptosis, proliferation, hormone and angiogenesis, we found a group of genes such as thioredoxin domain containing 5, tumor necrosis factor receptor superfamily, member 10a, ribosomal protein S19 and Janus kinase 2 upregulated in AI prostate cancer, could play important roles in the transition from AD to AI and could be biomarkers of prognosis.

thioredoxin domain containing 5

prostate cancer

thioredoxin domain containing 5

prostate cancer


Input: To explore the biological significance of Cyr61 in HCC development, over-expression of this gene was established in HCC cell lines and its effects on cell proliferation, adhesion, migration and invasion were analyzed in this study.

adhesion


Input: Individuals with a mutation in MAF may have pulverulent cataract alone or cataract in association with microcornea or iris coloboma.

MAF

pulverulent cataract

MAF

pulverulent cataract


Input: Although the importance of c-erbB-2 gene copy number seemed to be inferior to that of the histologic grade, both were shown to be strongly associated with the aggressiveness of the tumor itself rather than the extent of tumor spread.

c-erbB-2 gene

aggressiveness


Input: The 8. 1 haplotype (from genotypic analyses) is associated with lower risk than the high-risk DR3-B18-A30 haplotype (p = 0. 01, OR = 0. 23), but the DR3-B18-A30 haplotype did not differ from other non-8. 1 DR3 haplotypes relative to diabetes association.

diabetes


Input: Cells in which WASF3 has been knocked down show no response to hypoxia as expected, implicating the specificity of the hypoxic response to WASF3.

hypoxic


Input: We suggest that EXOSC3 mutations may present not only as pontocerebellar hypoplasia type 1, but also as a complicated form of hereditary spastic paraplegia without pontine hypoplasia or atrophy.

hereditary spastic paraplegia


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

CCNH

liver cancer

CCNH

liver cancer


Input: Cyr61 is a secreted, cysteine-rich, heparin-binding protein that mediates diverse functions including extracellular matrix formation, differentiation, cell proliferation, adhesion, migration, survival, as well as angiogenesis and tumorigenesis.

tumorigenesis


Input: We measured CRBN expression prior to therapy initiation by real-time polymerase chain reaction in 46 bone marrow (BM) aspiration samples of patients and controls.

CRBN

aspiration


Input: A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.

Stickler syndrome type 2

Stickler syndrome type 2


Input: Genes such as ELTD1 on chromosome 1, in addition to genes on chromosomes 4 (eg, GABRA2) and 6 (eg, CNR1), may be associated with the genetic risk for cannabis use disorders.

cannabis use

cannabis use


Input: Cholelithiasis and choledocholithiasis after sequential cytarabine and asparaginase.

asparaginase

choledocholithiasis

asparaginase

choledocholithiasis


Input: We have previously shown that PROKR1 and PROKR2 are associated with recurrent miscarriage (RM) using the tag-SNP method.

recurrent miscarriage


Input: In the present study, we have explored the role of RhoE expression in gastric cancer, cell invasion and metastasis, and the influence of RhoE on regulating the potential expression of down-stream genes.

RhoE

gastric cancer


Input: In the present study, we analyzed the expression of the MKP1, MKP2, and MKP3 isoforms in rat brain after electroconvulsive seizure (ECS), considered the most effective treatment for depression.

depression

depression


Input: Several genes previously unknown for autoimmune uveitis, including IL-22, IL-19, IL-20, and IL-25/IL-17E, were found to be highly expressed among uveitis patients compared with the normal subjects with IL-22 expression highly variable among the patients.

uveitis


Input: Studies in animal models have demonstrated that the protease ADAMTS7 plays a role in neointima formation after arterial mechanical injury, by facilitating vascular smooth muscle cell (VSMC) migration.

neointima formation


Input: A microdeletion at Xq22. 2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.

behavioral problems


Input: CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.

melanoma

melanoma


Input: Expression of ras and myc oncogenes in human hepatocellular carcinoma and non-neoplastic liver tissues.

myc oncogenes

non-neoplastic


Input: Higher SF-PTX3 levels were found when tested closer to arthritis exacerbation and 48-72 h after in vitro stimulation of cells from a synovial cell line, implying that PTX3 plays a role in early stages of inflammation.

inflammation


Input: Thicker walls in the proximal airways were associated with clinical features that may represent a bronchitic phenotype (MRC Bronchitis Score; β = 0. 20, p = 0. 003, Frequent Exacerbations; β = 0. 14, p = 0. 017, Total St George' s Score; β = 0. 50, p = 0. 001 and body mass index [BMI]; β = 0. 26, p = 0. 049); these associations were independent of emphysema.

MRC

body mass index


Input: The end-stage/senescent CD8 (+) CD45RA (+) CD27 (-) T-cell subset increases significantly during ageing and this is exaggerated in CMV immune-responsive subjects.

ageing


Input: Tissue microarray analysis of primary Hodgkin lymphomas displayed that 82% cases (95/116) expressed cFLIP in Reed-Sternberg cells.

cFLIP

Hodgkin lymphomas

cFLIP

Hodgkin lymphomas


Input: A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

Singleton-Merten syndrome

Singleton-Merten syndrome


Input: We identified the BRCA1/2 genetic mutation test results of 1223 breast cancer patients and 174 patients with ovarian cancer.

breast cancer

breast cancer


Input: Prospective analysis of 1377 young adults with 6-year follow-up indicated that SHBG is also associated with future insulin resistance.

SHBG

insulin resistance


Input: The initial study found that urine concentrations of the metabolites 1, 2-dihydroxy-4-(acetyl) butane (M1) and 1-dihydroxy-2-(N-acetylcysteinyl)-3-butene (M2) and blood concentrations of the hemoglobin adducts N-[2-hydroxy-3-butenyl] valine (HB-Val) and N-[2, 3, 4-trihydroxy-butyl] valine (THB-Val) constitute excellent biomarkers of exposure, both being highly correlated with BD exposure levels, and that GST genotypes modulate at least one metabolic pathway, but that irreversible genotoxic effects such as chromosome aberrations and HPRT gene mutations are neither associated with BD exposure levels nor with worker genotypes (GST [glutathione-S-transferase]-M1, GSTT1, CYP2E1 (5' promoter), CYP2E1 (intron 6), EH [epoxide hydrolase] 113, EH139, ADH [alcohol dehydrogenase] 2 and ADH3).

hemoglobin


Input: Application of HGF to the wounds significantly enhanced wound healing and inhibited over scarring.

HGF

scarring


Input: To explain the increase in potency it is speculated that during the development of pulmonary hypertension the mechanism whereby ET-1 and NA contract pulmonary arteries may change from one in which Ca2 + influx plays only a minor role to one in which Ca2 + influx predominates, although no direct evidence to support this speculation has yet been obtained.

pulmonary hypertension

pulmonary hypertension


Input: We conclude that the recurring Ashkenazi MSH2 and MSH6 mutations contribute little if any to sporadic and familial gastric and pancreatic cases in Israeli patients.

sporadic


Input: Both male and female 5-HT3A mutant mice had urinary bladder mucosal and smooth muscle hyperplasia and hypertrophy, whereas male mutant mice had additional prostatic smooth muscle and urethral hyperplasia.

hyperplasia


Input: In contrast, only male Nf1 GEM showed spatial learning/memory deficits, increased Ras activity, and reduced dopamine levels.

GEM

memory deficits


Input: Clinical investigation of the homozygous Arg133Trp carriers and of the Arg37Trp carrier demonstrated a more severe alteration in insulin secretory reserve, during a glucagon-stimulation test, compared to other KPD subjects.

KPD

KPD


Input: The macrophage scavenger receptor (SR) plays a leading role in atherogenesis, but little is known about the relevance of SR to atherosclerosis in uremia.

macrophage scavenger receptor

uremia


Input: The identification of MYH9 as the disease gene for MHA establishes the pathogenesis of the disorder, should provide further insight into the processes of normal platelet formation and may facilitate identification of the genetic basis of related disorders.

MHA

MHA


Input: Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.

coagulation factor XII (Hageman factor

hereditary angioedema type III

coagulation factor XII (Hageman factor

hereditary angioedema type III


Input: The strength of adhesion between RPE apical microvilli and photoreceptor outer segments also declined during peak adhesion in all mutants.

RPE

adhesion


Input: The antigens MART and OND have been located on the leucocyte adhesion molecules (beta2 integrins) and found to be caused by single nucleotide mutations in the alphaM (CD11b) and alphaL (CD11a) subunits.

adhesion


Input: In both strains, JAK2 V617F, but not JAK2 WT, induced non-fatal polycythemia characterized by increased hematocrit and hemoglobin, reticulocytosis, splenomegaly, low plasma erythropoietin (Epo), and Epo-independent erythroid colonies.

hemoglobin


Input: From MPP to MDC, the percent change in blood pressure per year was higher for systolic blood pressure (P = 0. 002) and diastolic blood pressure (P = 0. 001) in SGK-1 risk carriers than noncarriers.

MDC

diastolic blood pressure


Input: Our findings implicate presumed gain-of-function COL17A1 mutations causing dominantly inherited ERED and improve understanding of the underlying pathology.

ERED

ERED


Input: This process was greatly impaired in CCR2-/-mice and granulomas remained small.

granulomas


Input: To investigate the association of Gln223Arg variant in leptin receptor gene with metabolic abnormalities and hypertension in type II diabetes mellitus.

leptin receptor gene

abnormalities


Input: Elevated TIMP-1 protein has been thought to be associated with oral fibrosis, however whether TIMP-1 expression in OSF is modulated at the transcriptional level is still unknown.

OSF

fibrosis


Input: AA genotype of A 1166C polymorphism was associated with lower minimal systolic blood pressure (SBP) and diastolic blood pressure (DBP) during HUT compared with other genotypes (minimal SBP: AA 59. 6 +/-21, 8, AC 79. 9 +/-22. 7, CC 65. 4 +/-22. 7 mmHg, P = 0. 007), (minimal DBP: AA 36. 4 +/-22. 7, AC 52. 3 +/-22. 9, CC 45. 4 +/-19. 5 mmHg, P = 0. 007). AA genotype was also associated with higher SDNN compared to other genotypes in the early phase of HUT (SDNN in 5 minutes of tilt: AA 59. 7 +/-24. 6, AC 50. 6 +/-20. 6, CC 46. 0 +/-13. 2, P = 0. 01) and at syncope occurrence (SDNN: AA 71. 0 +/-20. 9, AC 58. 2 +/-17. 9, CC 58 +/-10, P = 0. 04) Its role in genetic predisposition to vasovagal syncope cannot be excluded.

DBP

systolic blood pressure


Input: Classic WAS often results from mutations that cause the absence of WASP expression, associated with thrombocytopenia with small platelets, sinopulmonary infections, and eczema in young males.

WASP

infections


Input: Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1, 2-dioxygenase gene.

homogentisate 1, 2-dioxygenase

alkaptonuria

homogentisate 1, 2-dioxygenase

alkaptonuria


Input: AP3 & #948; deficiency thus causes a severe neurologic disorder with immunodeficiency and albinism that we propose to classify as HPS10.

albinism

albinism


Input: Moreover, infertile patients with the BDNF (Met/Met) genotype had a poorer IVF outcome compared with the BDNF (Val/Val) genotype individuals, which might in part be due to the decreased BDNF levels in follicular fluids after controlled ovarian hyperstimulation.

BDNF

infertile


Input: We investigated the polymorphisms of 14 adhesion molecules (CD2, CD28, CD31, CD34, CD36, CD42, CD44, CD48, CD49b, CD54, CD62L, CD86, CD102, and CD106) in Japanese subjects and their association with the occurrence of GVHD after allogeneic HLA identical BMT.

adhesion


Input: We sought to further identify the role of CDH17 in the tumorigenesis and lymphatic metastasis of GC.

tumorigenesis


Input: rs1799941 A allele was associated with high SHBG levels (p = 0. 031), low blood pressure, body mass index and waist circumference.

SHBG

body mass index


Input: Vaspin was barely detectable in rats at 6 wk and was highly expressed in adipocytes of visceral WATs at 30 wk, the age when obesity, body weight, and insulin levels peak in OLETF rats.

Vaspin

body weight


Input: MRC-cIII-generated ROS promote oxidative DNA damage to trigger genomic instability, resulting in an accumulation of chromosomal aberrations and tyrosine kinase inhibitor-resistant BCR-ABL1 mutants.

BCR

genomic instability


Input: Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

transferrin receptor-2

hemochromatosis type 3

transferrin receptor-2

hemochromatosis type 3


Input: The inv (11) (p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10.

chromosome translocation


Input: Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS.

GAMOS

GAMOS


Input: Because fibrocytes are involved in tissue repair and fibrosis and are presumably precursors of lung fibroblasts and myofibroblasts, we examined the effects of IL-17A/F on fibrocyte functions.

fibrosis


Input: Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

IMAGe syndrome

IMAGe syndrome


Input: High-dose chemoradiotherapy followed by MUD marrow infusion has a curative potential for patients with advanced acute leukemia and offers the chance of long-term leukemia-free survival.

MUD

leukemia


Input: The AURKA gene is located on chromosome 20q13, also known as HPC20 prostate cancer susceptibility locus.

AURKA gene

prostate cancer susceptibility


Input: Using fluorescence in situ hybridization (FISH) analysis, we investigated the existence of CHOP split signals in various histological areas of PLS including the MLS/RC-like feature and also estimated the distribution of various signals with polyploidy and amplification.

FISH

polyploidy


Input: Treatment with TGF-beta or expression of an activated TGF-beta type I receptor (Alk5 with the mutation T204D [Alk5 (T204D)]) induced phosphorylation of TACE/ADAM17 and its translocation to the cell surface, resulting in increased secretion of TGF-alpha, amphiregulin, and heregulin.

amphiregulin

translocation


Input: We have studied a translocation, t (9; 14) (p13; q32), in a diffuse large-cell lymphoma cell line, KIS-1, that expresses the Ki-1 (CD30) antigen.

diffuse large-cell lymphoma


Input: Vogt-Koyanagi-Harada disease associated with interferon alpha-2b/ribavirin combination therapy.

interferon alpha-2b

Vogt-Koyanagi-Harada disease

interferon alpha-2b

Vogt-Koyanagi-Harada disease


Input: A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.

leukocyte adhesion deficiency


Input: The germline CHEK2-1100delC mutation was present among 8/1, 646 (0. 5%) sporadic, 2/400 (0. 5%) early-onset and 3/302 (1%) familial breast cancer cases, but undetectable amongst 2, 105 multiethnic controls, including 633 from the US.

sporadic


Input: This might be due to a less severe loss of function of barttin induced by G47R mutation, compared with others, and our observation seems to suggest a possibility of the prevalence of mild form BSND with various levels of barttin dysfunction among patients with congenital deafness of unknown origin.

barttin

mild


Input: our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder; (ii) these two disorders share common disease-related mechanisms linked to dopamine signalling; (iii) the expression of these genes is closely correlated; and (iv) DRD2 provides the initial trigger in the pathogenesis of these disorders.

bipolar disorder

bipolar disorder


Input: Six proteins were found to significantly differ among the four treatment groups, with Δ9-THC and ovariectomy (OVX) decreasing the mitochondrial proteins, pyruvate carboxylase and NADH dehydrogenase, whereas the levels of putative cytosolic molecular chaperones NM23B, translationally controlled tumor protein, DJ-1 and activator of heat-shock 90kDa protein ATPase homolog 1 (AHA1) were increased.

shock


Input: Previous cross-sectional studies have suggested ADRB3 as a possible candidate gene in the development of hyperuricemia and insulin resistance.

insulin resistance


Input: The UCP2-866G > A and UCP3-55C > T gene variants showed significant associations with BMI level, waist circumference, and body weight in the children but not in the adults.

body weight


Input: To search for molecular evidence of Chlamydial infection in systemic lupus erythematosus (SLE) subjects and to assess if there is an association of this infectious agent with coronary artery calcification (CAC), a marker of total atherosclerotic burden.

CAC

coronary artery calcification


Input: CGI in 5' upstream regions of 20 genes, TSPAN-2, AK5, LOC284999, HOXD11, FLJ25161, XT3, PCDH10, PCDHGB6, SIM1, LOC346978, COE2, TDH (FLJ25033), LOC346419, FLJ33790, GJB2, AMN, LOC201164, DLX4, DCC and FOXA2, were found to be methylated in at least one of 8 breast cancer cell lines.

breast cancer

breast cancer


Input: It likely plays a similar role when double strand breaks are created in the course of normal DNA replication; the absence of BRCA2 results in chromosomal instability, which is likely secondary to the defect in DNA repair.

chromosomal instability


Input: Rad18-induced mono-ubiquitination of FANCD2 is not observed in FA core complex-deficient cells, demonstrating that Rad18 E3 ligase activity alone is insufficient for FANCD2 ubiquitylation.

mono


Input: The degree of developmental overgrowth of the GPC3-deficient mice is similar to that of mice deficient in IGF receptor type 2 (IGF2R), a well characterized negative regulator of IGF-II.

overgrowth


Input: Our analysis implicates novel biological features associated with LKB1 loss, including altered mitochondrial metabolism, activation of the nuclear respiratory factor 2 (NRF2) transcription factor by kelch-like ECH-associated protein 1 (KEAP1) mutations, and attenuation of the phosphatidylinositiol 3-kinase and v-akt murine thymoma viral oncogene homolog (PI3K/AKT) pathway.

thymoma


Input: Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, anemia, proteinuria, and kidney failure.

anemia


Input: Further analysis of the MT1/2 skin papilloma cell line showed that a quercetin treatment dose dependently suppressed IGF-1 induced phosphorylation of the IGF-1 receptor (IGF-1R), insulin receptor substrate (IRS)-1, Akt and S6K; however, had no effect on the phosphorylation of PTEN.

skin papilloma


Input: The RANTES-403G/A polymorphism did not influence asthma/atopy susceptibility, blood eosinophil count, or bronchial hyperresponsiveness.

RANTES

atopy


Input: Human studies have also linked the CACNA1D gene, which codes for the Ca & lt; sub & gt; v & lt;/sub & gt; 1. 3 protein, with bipolar disorder.

bipolar disorder

bipolar disorder


Input: To further evaluate the role of RPS14, its transcription was tested in bone marrow cells from 17 patients with International Prognostic Scoring System defined Low-or Intermediate-1-risk MDS with del (5q) as a single or additional cytogenetic abnormality receiving treatment with lenalidomide.

cytogenetic abnormality


Input: Human acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), and chronic myeloid leukemia cell lines transduced with the monocistronic pHR-CD80 vector or the bicistronic pHR-GM/CD vector became 75% to 95% CD80 positive (CD80 (+)).

chronic myeloid leukemia


Input: We further discuss the role of ten genes known or assumed to be related to developmental delay and/or autism (BAI3, RIMS1, KCNQ5, HTR1B, PHIP, SYNCRIP, HTR1E, ZNF292, AKIRIN2 and EPHA7).

autism

autism


Input: Ewing family tumors (EFTs) are associated with a chromosomal translocation resulting in a fusion of the amino-terminus of EWS with the DNA-binding domain of an ETS transcription factor.

EWS

chromosomal translocation


Input: Both the mucosa and polyps from the intestine and colon were assayed for beta-catenin, cyclooxygenase (COX)-2 expression and COX isoform activities.

COX

polyps


Input: We investigated whether this polymorphism is predictive of reductions in blood pressure and albuminuria and preservation of glomerular filtration rate (GFR) during short-term and long-term treatment with losartan in 57 hypertensive type-1 diabetic patients with diabetic nephropathy.

GFR

albuminuria


Input: After comparing patients with asthma, atopic patients, non-atopic patients and control population, we found no significant deviation in the distribution of the alleles or genotypes of CCL5/RANTES promoter polymorphisms in any tested comparison.

RANTES

atopic


Input: Inducible nitric oxide synthase (iNOS) and interleukin 8 (IL-8) are positive in approximately 50% of Helicobacter pylori-related diseases but it is not clear whether oxidative stress is also present in H. pylori asymptomatic humans.

asymptomatic


Input: On the contrary, no sporadic breast tumors have been shown to harbor mutations in BRCA1 and BRCA2 genes.

BRCA2 genes

sporadic


Input: Thus, Pin1-mediated reduction of SUV39H1 stability contributes to convey oncogenic signals for aggressiveness of human breast cancer, suggesting that Pin1 may be a promising drug target for anticancer therapy.

aggressiveness


Input: Incidentally, any defect in insulin secretion, whether in normoglycemic or hyperglycemic persons, could be due to other factors than primary beta-cell dysfunction: amyloid deposits in the pancreas (126), changes in insulin secretagogues (amylin, GLP-1, GIP, galanin) (127-130), early intrauterine malnutrition (131).

amyloid deposits


Input: Adaptive evolution of heparanase in hypoxia-tolerant Spalax: gene cloning and identification of a unique splice variant.

heparanase

hypoxia


Input: An elevated PMN CD64 index is associated with both mucosal inflammation and an increased risk for clinical relapse in pediatric CD.

mucosal inflammation


Input: The inhibition of the STAT1-signalling pathway by methylation of the promoter may inactivate the p21WAF1/CIP1 TSG in prostate cancer.

TSG

prostate cancer


Input: In this context, galanin is of particular interest, since it is co-localised with serotonin in the dorsal raphe nucleus and with noradrenaline in the locus coeruleus, nuclei known to play a major role in affective disorders and in the action of antidepressant drugs.

galanin

affective disorders

galanin

affective disorders


Input: Many proteins and genes involved in adhesion and signaling, including small GTPases such as Rap1 and Rap2 as well as the major Rap activity-regulating molecules, were normally present.

adhesion


Input: Altogether, we provide compelling evidence that de novo variants in DPF2 cause Coffin-Siris syndrome and propose a dominant-negative mechanism of pathogenicity.

Coffin-Siris syndrome

Coffin-Siris syndrome


Input: In the present study, we have investigated the role of type-A endothelin (ET-A) receptors in the development of CH-induced inflammation.

ET-A

inflammation


Input: A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

Hallervorden-Spatz syndrome

Hallervorden-Spatz syndrome


Input: The hypersensitivity of jmjd-1. 1 worms to ICLs was increased by rad-54 knockdown, suggesting that JMJD-1. 1 acts in parallel with RAD-54 in modulating chromatin structure.

RAD

hypersensitivity


Input: Additional genetic abnormalities were present in 12/14 (86%), including partial uniparental disomies for 9p (one case) and 4q (two cases) associated with homozygous mutations of JAK2 and TET2, respectively.

abnormalities


Input: Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.

cranioectodermal dysplasia

cranioectodermal dysplasia


Input: Mutations in DAX-1 found in AHC-HHG patients significantly impair RNA binding.

AHC

AHC


Input: The results suggest that lower birth weight and maternal smoking during pregnancy may interact with DRD5 and DAT1 (birth weight only) in influencing associated antisocial behavior symptoms (ODD and conduct disorder).

ODD

smoking


Input: This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs7799039), and two non-synonymous single nucleotide polymorphisms of the leptin receptor gene (LEPR), K109R (rs1137100) and Q223R (rs1137101), with body weight, body mass index (BMI) and obesity (BMI > or = 30) in Pacific Islanders.

LEP

body weight


Input: Blocking miR-346 by an antagomiR was sufficient to inhibit NSCLC cell growth and metastasis, an effect that could be phenol-copied by RNAi-mediated silencing of XPC.

metastasis

metastasis


Input: Analysis of these filaments showed reduced association of TPM3, particularly during hypoxia, suggesting that RIOK3 regulates actin filament specialisation.

hypoxia


Input: Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men.

infertile


Input: Patients with USH1 have severe to profound congenital hearing impairment, vestibular dysfunction, and retinal degeneration beginning in childhood, while those with USH2 have moderate to severe hearing impairment, normal vestibular function, and later onset of retinal degeneration.

vestibular dysfunction


Input: We assessed the relation between NAT2 acetylation status and breast cancer risk, and its interaction with smoking, in a prospective study of mainly Caucasian US women.

smoking


Input: The presence of the' T' allele at Xmn1-HBG2 led to a significant increase in hemoglobin (P = 9. 8 × 10 (-3)) but no changes in cellular hemoglobin content.

hemoglobin


Input: At baseline, blood pressure, albuminuria and glomerular filtration rate (GFR) values were similar in the two genotype groups [II vs. DD, 1134 (238 to 5302) vs. 1451 (227 to 8129) mg/24 h, median (range); 156/82 (17/9) vs. 153/80 (17/11) mm Hg, mean (SD); and 86 (22) vs. 88 (24) mL/min/1. 73 m2, respectively].

GFR

albuminuria


Input: Pre-treatment with HA inhibited the secretion of monocyte chemoattractant protein (MCP)-1, the expression of vascular cell adhesion molecule (VCAM)-1 and the activation of transcriptional nuclear factor (NF)-kappaB in HUVECs stimulated with tumor necrosis factor-alpha, the major pro-inflammatory cytokine causing endothelial inflammation.

MCP

inflammation


Input: Cells of a human gastric cancer cell line, MKN45, were then co-cultured with the supernatants, with and without monoclonal anti-MIF antibody for 24 h. The cells were further incubated for 12 h after addition of 3H-thymidine, and the levels of incorporation of 3H-thymidine were measured with a liquid scintillation counter.

MIF

gastric cancer


Input: Genome-wide association studies for body mass index (BMI) previously identified a locus near TMEM18.

body mass index


Input: These results do not support an association between genetic variation near NOTCH4 and BPAD in this sample.

BPAD

BPAD


Input: Altered expression of adhesion molecules CD44, CD54 (case 1) and CD11a and CD18 (case 2) may help to explain the poor outcome of these patients.

adhesion


Input: There was no significant difference in terms of kidney function, urinary activity, SLEDAI score, presence of anti-dsDNA antibodies, CD4 +/CD8 + ratio and BKV viremia and/viruria, as well as there was no significant correlation between SLEDAI score, anti-dsDNA antibodies titers and median viral load.

viremia


Input: We treated each mouse model with the HPGDS-specific inhibitor, HQL-79, and measured both necrotic muscle volume and selected cytokine mRNA levels.

HPGDS

necrotic


Input: Finally, we observed modulation of genes involved in cell growth inhibition (CGREF1, PA2G4, and PPP2R1B), increased apoptosis (FAS, TNFSF10, and BASP1), and reduced adhesion at the dermal epidermal junction (PLEC1, ITGB4, and LAMA5).

adhesion


Input: The haplotype alleles of the TNT-alpha and TNFR2 gene polymorphisms are genetic factors associated with endometriosis, and circulating sTNFR rather than TNT-alpha, may be involved in the development of endometriosis in Korean women.

TNT

endometriosis


Input: Anomalies of these proteins, including three principal antioxidant enzymes (copper/zinc-superoxide dismutase, peroxiredoxin 3, and thioredoxin-like 1 protein), S100 calcium binding protein, galectin-1, chorionic somatomammotropin hormone 1, transthyretin, fas inhibitory molecule, eukaryotic translation elongation factor, RNA-binding protein, ubiquitin-conjugating enzyme E2N, and proteasome beta-subunit, indicate widespread failure in cell regulations and processes such as antioxidative defense, differentiation, cell proliferation, metabolism, apoptosis, transcription, and proteolysis in early pregnancy loss.

peroxiredoxin 3

early pregnancy loss


Input: TSG partly restored microvascular endothelial dysfunction through activating the Akt/mTOR pathway, which consequently suppressed autophagy, indicating that TSG could be potentially applied to protect vascular function against subclinical changes in prehypertension.

TSG

prehypertension


Input: A new mutation in the UROD gene causes a mild HEP phenotype.

UROD gene

mild


Input: We describe a fourth family with XLSA-A and a novel mutation in the ABCB7 gene.

XLSA-A

XLSA-A


Input: Lithium-treated WT mice had 19-fold increased urine output whereas treated PKC & #945; KO animals had a 4-fold increase in output.

PKC

increased urine output

PKC

increased urine output


Input: The expression of TM4SF5, CTD-2354A18. 1 and miR-4697-3P is in balance at physiological conditions, however, the balance is disrupted by some situations, which may contribute to gastric cancer.

gastric cancer


Input: Perry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, with brain pathology characterized by TDP-43 immunostaining.

hypoventilation


Input: These results indicate a novel disease mechanism involving abnormal adhesion between RPE and Bruch' s membrane.

RPE

adhesion


Input: Conversely, some miRNAs show lymphoma-specific aberrant expression, such as MIRN9/9 *, MIRN301, MIRN338 and MIRN213 in FL and MIRN150, MIRN17-5P, MIRN145, MIRN328 and others in DLBCL.

lymphoma


Input: In the HPV-negative patients (n = 221), heavy alcohol consumption was significantly associated with SCNAs of oncogenes/oncosuppressors that were previously reported to occur frequently in HNSCCs: CDKN2A (q = 0. 005), FHIT (q = 0. 005), 11q13 region including CCND1, FADD and CTTN (q = 0. 005), ERBB2 (HER2) (q = 0. 009), 3q25-qter including CCNL1, TP63, DCUN1D1 and PIK3CA (q = 0. 014), and CSMD1 (q = 0. 019).

alcohol consumption


Input: Accumulation of CML and a CML-upregulated RAGE-dependent inflammatory response in steatotic livers may play an important role in hepatic steatosis and in the pathogenesis of NAFLD.

RAGE

hepatic steatosis


Input: The aim of this study was to investigate the relationship between the expression levels of thymidylate synthase (TS) and 2-[¹⁸F]-fluoro-2-deoxy-D-glucose (¹⁸F-FDG) uptake on positron emission tomography (PET) in various thoracic neoplasms.]

FDG

thoracic neoplasms


Input: T-LAK cell-originated protein kinase (TOPK) phosphorylation of MKP1 protein prevents solar ultraviolet light-induced inflammation through inhibition of the p38 protein signaling pathway.

TOPK

inflammation


Input: Both leptin (LEP) and leptin receptor (LEPR) are important in the regulation of body weight.

LEP

body weight


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

APA

brain tumors


Input: FOXO3 deficiency leads to increased susceptibility to cigarette smoke-induced inflammation, airspace enlargement, and chronic obstructive pulmonary disease.

inflammation


Input: RNA interference for HIF-1alpha inhibits foam cells formation in vitro.

foam cells


Input: The expression of neurogenin 3 (NEUROG3), neurogenic differentiation 1 (NEUROD1), POU class 3 homeobox 4 (POU3F4), pancreatic duodenal homeobox factor 1 (PDX1), ribosomal protein L10 (RPL10), delta-like 1 homolog (Drosophila; DLK1), and menin was analyzed by immunohistochemistry in normal pancreas and pancreatic endocrine tumors from 6 patients with MEN1 and 16 patients with sporadic tumors, as well as pancreatic specimens from Men1 heterozygous and wild type mice.

sporadic


Input: Inhibition of TWEAK could be a potential approach to prevent weight gain and type 2 diabetes.

TWEAK

weight gain


Input: PAK1 modulates a PPARγ/NF-κB cascade in intestinal inflammation.

inflammation


Input: In a sporadic FAF patient, however, the haplotype was dissimilar to the founder haplotype.

FAF

sporadic


Input: In view of the documented link between dopamine (DA) transmission and schizophrenia, the present study used behavioral and neurochemical approaches to examine the influence of constitutive PKCI/HINT1 deletion upon: (i) basal and amphetamine (AMPH)-evoked locomotor activity; (ii) DA dynamics in the dorsal striatum, and (iii) postsynaptic DA receptor function.

schizophrenia

schizophrenia


Input: Subsequent sequencing of this gene in several additional trichomegaly families identified an additional mutation in FGF5.

trichomegaly

trichomegaly


Input: Tuberculous or bacterial meningitis, tuberculoma and abscess were at the top of the diagnosis list followed by Herpes simplex meningo-encephalitis (HSE).

HSE

bacterial meningitis


Input: In the ROP model, avascular retina persisted at P14 and intravitreous neovascularization developed at P18.

neovascularization


Input: Archival tissues from 68 patients with squamous cell carcinoma of the tongue were examined for p53, Hsp70, Ki67, and CD34 by immunohistochemistry and correlated with 5-year survival.

squamous cell carcinoma of the tongue


Input: In a Cox univariate analysis, the beta1Gly49 and beta2 5' LC-Cys19, Arg16, and Gln27 alleles were associated with a lower risk of heart failure.

heart failure


Input: We also determined that the IFN-gamma hypersensitivity of FA-C hematopoietic progenitor cells does not derive from STAT1 activation defects because granulocyte-macrophage CFU and erythroid burst-forming units from STAT1 (-/-) mice were resistant to IFN-gamma.

hypersensitivity


Input: The first aim of this study was to confirm a role for three miRNAs (let-7a, hsa-miR-126, and hsa-miR-145) in the inhibition of proliferation in non-small cell lung cancer (NSCLC) cells.

non-small cell lung cancer

non-small cell lung cancer


Input: Thus, genetic alterations in CETP levels lead to secondary changes in the plasma LCAT reaction, possibly because of remodeling of HDL by CETP acting in concert with other factors in vivo.

CETP

secondary


Input: The leucine zipper domain of ATF3 appears indispensable for these effects as an ATF3 mutant lacking this domain failed to interact with E6 and activate p53 in the cervical cancer cells.

cervical cancer


Input: Elafin inhibits serine proteases, such as human neutrophil elastase and proteinase 3, to prevent excessive damage during inflammation.

Elafin

inflammation


Input: Together, these results suggest that reconstitution of MnSOD in tumor cells can specifically modulate the expression of down-stream effector genes.

MnSOD

tumor

MnSOD

tumor


Input: Recurrent pure mucinous carcinoma of the breast with mediastinal great vessel invasion: HER-2/neu confers aggressiveness.

aggressiveness


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

loricrin

ichthyosis


Input: Patients who fulfilled the diagnostic criteria for acute pyelonephritis (APN) and acute lobar nephronia (ALN) without underlying diseases or structural anomalies, except for vesicoureteral reflux (VUR), were enrolled.

ALN

vesicoureteral reflux


Input: The protein expression of eight cancer-testis antigens [MAGEA, NY-ESO-1, GAGE, MAGEC1 (CT7), MAGEC2 (CT10), CT45, SAGE1, and NXF2] was evaluated by immunohistochemistry in 61 esophageal carcinomas (40 adenocarcinoma and 21 squamous cell carcinoma), 50 gastric carcinomas (34 diffuse and 16 intestinal type), and 141 colorectal carcinomas.

cancer


Input: Notably, SPARC is linked to human obesity; SPARC derived from adipose tissue is associated with insulin resistance and secretion of SPARC by adipose tissue is increased by insulin and the adipokine leptin.

SPARC

insulin resistance


Input: We speculate that these leukemia subsets originate from CD4 + hematopoietic precursor cells, therefore then should be considered separately from most of the CD4 + AML as represented by CD34lowCD33high CD11bhighGM-CSFRhigh.

leukemia


Input: The disorder was characterized by a progressive neurological syndrome with cerebellar and pyramidal signs, mental deterioration, epilepsy and subcortical leukoencephalopathy on magnetic resonance imaging (MRI).

MRI

epilepsy


Input: Interestingly, coinfection of CD34 (+) cells with clinical viral strains blocked the ability of an HDAC inhibitor to activate IE1 and early protein expression during infection with a laboratory-adapted strain.

coinfection


Input: The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective.

breast tumors

breast tumors


Input: The p53-mutated status of FaDu human pharynx carcinoma cell line was first assessed by DNA sequencing and the cells were transfected using tetraglucosylated polyethylenimine (PEI-Glu4) in conjunction with photochemical internalisation (PCI).

PCI

pharynx carcinoma


Input: Since certain subsets of aggressive tumors often promote cell motility, invasion and survival by inducing epithelial-to-mesenchymal transition through TGF-beta/BMP in an autocrine and paracrine manner, hypermethylation of the BAMBI gene promoter that leads to BAMBI gene suppression may be one of the epigenetic events affecting the invasiveness or aggressiveness of bladder cancers.

BAMBI gene

aggressiveness


Input: (1) The expression amount of p42. 3 in G1 and M phase was higher than that in S and G2 phase; (2) The space coordinate systems of different structural domains of p42. 3 protein were established in Matlab7. 0 software; (3) The optimal pathway of p42. 3 gene in protein regulatory network in gastric cancer is Ras protein, Raf-1 protein, MEK, MAPK kinase, MAPK, tubulin, spindle protein, centromere protein and tumor.

p42. 3

gastric cancer


Input: Modulation of PLD1 expression and activity represents a promising therapeutic strategy for the treatment of intestinal tumorigenesis.

tumorigenesis


Input: Mutations in an essential enzyme of cholesterol biosynthesis, NAD (P) H steroid dehydrogenase-like [NSDHL], have been reported in five unrelated patients with right-sided CHILD syndrome and in a sixth patient with bilaterally, symmetric nevi and mild skeletal anomalies, but not with CHILD syndrome as originally defined.

NSDHL

mild


Input: All-out efforts should be directed to the prevention of HCC, through prevention of viral hepatitis, prevention of acute hepatitis from becoming chronic, prevention of chronic hepatitis from progressing to cirrhosis, and prevention of the cirrhotic liver from developing HCC (chemoprevention).

HCC

chronic hepatitis


Input: Genetic associations or gene-smoking interactions was found for GPX1 (Pro200Leu) and EPHX1 (His113Tyr).

smoking


Input: TMEM25, REPS2 and Meis 1 expression was investigated by qRT-PCR, in triplicate, in 103 breast tumour biopsies procured in 1993-1994.

Meis 1

breast tumour

Meis 1

breast tumour


Input: A significant association was observed between a low number of CDR frameshifts and the presence of lymph-node metastasis in advanced gastrointestinal tumours.

CDR

metastasis


Input: Genetic risk for NAT2 genotype was analyzed by smoking index (SI, cigarettes smoked per day x years of smoking).

smoking


Input: Here we assessed the expression of OPG in human gliomas in vivo, in primary glioma cell cultures and in established glioma cell lines.

OPG

glioma


Input: We tested for N-type and P/Q-type voltage-gated calcium-channel antibodies, neuronal nicotinic acetylcholine receptor alpha3 subunit, acetylcholine receptor-binding antibodies, striated muscle antibodies, Type 1 Purkinje cell cytoplasmic antibodies, types 1 and 2 antineuronal nuclear antibodies and amphiphysin antibodies, GAD-65 antibody, and thyroid microsomal and thyroglobulin antibodies in the serum of 43 patients with or without cataplexy, 41 with known HLA status.

GAD

cataplexy


Input: GBMs and glioma cell lines had low levels of NPTX2 transcripts, which could be reversed upon methylation inhibitor treatment.

glioma


Input: Stratified analyses did not find any significant effect of age, ethnicity, smoking, well-done meat consumption, dietary intake of PhIP, or polymorphisms of CYP1A1, CYP1B1, NAT2, and GSTM1 genes on the level of PhIP-DNA adducts.

smoking


Input: Kinetochore KMN network gene CASC5 mutated in primary microcephaly.

primary microcephaly

primary microcephaly


Input: L-SIGN (CD209L) isoforms differently mediate trans-infection of hepatoma cells by hepatitis C virus pseudoparticles.

hepatoma


Input: Marburg I polymorphism of factor VII--activating protease: a prominent risk predictor of carotid stenosis.

factor VII

carotid stenosis


Input: Pendred syndrome and non-syndromic recessive deafness associated with enlarged vestibular aqueduct (NSRD with EVA) are caused by mutations in the SLC26A4 (PDS) gene.

EVA

deafness


Input: We describe five patients from a Turkish family with SEMD Pakistani type with homozygosity for a nonsense mutation (p. R329X) leading to a stop codon in PAPSS2.

SEMD Pakistani type

SEMD Pakistani type


Input: Levels of K-ras p21, raf-1, mitogen-activated protein kinases Erk 1 and 2, the phosphorylated-activated forms of Erk 1 and 2 (Erk 1P and 2P), and proliferating cell nuclear antigen (PCNA) were measured by immunoblotting in mouse lung tumors (5 to 9 mm in size) caused by N-nitrosodimethylamine (NDMA) and in control lungs.

lung tumors

lung tumors


Input: Meta-analysis of all stroke studies on alteplase-associated angioedema, which provided detailed information about the use of ACE-inhibitors.

alteplase

angioedema

alteplase

angioedema


Input: At the baseline of BMI, body weight, body fat, waist circumference, hip circumference, the arm skin fold, resting energy expenditure, or blood lipid and glucose profiles, there was no significant difference in participants with/without mutation of the beta (3) AR gene.

AR gene

waist circumference


Input: Secreted phospholipases A2 (sPLA2) expressed in the skin are thought to be involved in epidermal barrier homeostasis as well as in inflammation.

inflammation


Input: Here we showed that a bioactive lipid, lysophophatidic acid (LPA), up-regulated the expression of human telomerase reverse transcriptase (hTERT) and telomerase activity in serous ovarian adenocarcinoma cell lines SKOV3, A2780, and HEY, but not in OCC1, a clear cell ovarian cancer cell line.

ovarian adenocarcinoma


Input: In conclusion HCC was more frequent in our patients with HBV-HCV co-infection, than in those with HBV or HCV mono-infection; possible associated risk factors for HCC development seem a long duration of disease, high levels of fibrosis and carbohydrate intolerance.

HCC

fibrosis


Input: Elevated expression of protein casein kinase II (CKII) stimulated basal phospholipase D (PLD) activity as well as PMA-induced PLD activation in human U87 astroglioma cells.

astroglioma


Input: Moreover, reintroduction of LOXL1 and LOXL4 genes into human bladder cancer cells leads to a decrease of colony formation ability.

bladder cancer

bladder cancer


Input: Genetic and cellular characterizations of human TCF4 with microsatellite instability in colon cancer and leukemia cell lines.

microsatellite instability


Input: To investigate the role of PAR-1 in skin fibrosis, we subjected wild-type and PAR-1-deficient mice to a model of bleomycin-induced skin fibrosis.

fibrosis


Input: High expression of Sonic hedgehog signaling proteins is related to the favorable outcome, EGFR mutation, and lepidic predominant subtype in primary lung adenocarcinoma.

Sonic hedgehog

lung adenocarcinoma


Input: The frequencies of CA12 +/CA12 +, CA12 +/CA12-and CA12-/CA12-in the 218 RSV bronchiolitis patients and 303 controls were approximately 11% versus 19%, 55% versus 53% and 34% versus 28%, respectively.

bronchiolitis


Input: Connective tissue growth factor (CTGF/CCN2) can be induced by various forms of stress such as exposure to high glucose, mechanical load, or hypoxia.

hypoxia


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

CAST

drinking


Input: Silencing of cyclin D3 reproduced the cell cycle arrest caused by L-Arg starvation.

cyclin D3

starvation


Input: Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.

PEX

X-linked dominant hypophosphatemic rickets

PEX

X-linked dominant hypophosphatemic rickets


Input: Cu, Zn-Superoxide Dismutase-Mediated Redox Regulation of Jumonji Domain Containing 3 Modulates Macrophage Polarization and Pulmonary Fibrosis.

Cu, Zn-Superoxide Dismutase

Pulmonary Fibrosis

Cu, Zn-Superoxide Dismutase

Pulmonary Fibrosis


Input: CRP and IL-6 levels were negatively associated with forced expiratory volume in one second (FEV (1)), forced vital capacity (FVC) and mean forced expiratory flow between 25 and 75% of FVC (FEF (25-75%)).

CRP

forced expiratory volume


Input: Inheritance of an RNA splicing mutation (G + 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome type IV


Input: In 57 specimens from 49 patients with MPNST (35 sporadic, 14 neurofibromatosis type 1-related), TA was determined using the telomeric repeat amplification protocol, and ALT was detected by assaying ALT-associated promyelocytic leukemia bodies (APB) and terminal restriction fragment (TRF) length distribution.

TRF

sporadic


Input: These results suggest a haploinsufficiency mechanism and point to a causative role for GLE1 mutations in ALS patients.

ALS

ALS


Input: Skeletal muscle (red gastrocnemius) mitochondrial-fatty acid oxidation (FAO), mitochondrial-enzyme activity, mitochondrial-morphology, peroxisome proliferator-activated receptor gamma coactivator 1alpha (PGC-1alpha), and peroxisome proliferator-activated receptor delta (PPARdelta) expression and insulin sensitivity (intraperitoneal glucose tolerance tests) were measured.

insulin sensitivity


Input: Furthermore, carcinomas with elevated pY-STAT5a demonstrated lower apoptosis as measured by the TUNEL assay and the Bcl-2 to Bax ratio, and showed increased expression of the long and short isoforms of the prolactin receptor.

carcinomas

carcinomas


Input: Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP), DNA sequencing, and immunoblotting analysis revealed that YCC-1 gastric cancer cells overexpressed wild type K-ras, whereas YCC-2 cells had a homozygous mutation in codon 12 from GGT (glycine) to AGT (serine), while SNU-1 cells had a heterozygous mutation to GAT (asparagine) in the identical position.

GAT

gastric cancer


Input: For the first time, we demonstrate that 4-AAQB significantly suppress Atg-5 and Atg-7 expression with decreased autophagic flux in ovarian cancer cells via inhibition of the PI3K/Akt/mTOR/p70S6K signaling pathway.

ovarian cancer

ovarian cancer


Input: Furthermore, evidence from 27 clones of AUG hybrids that were produced between A9 and another human fibroblast line, GM1696, carrying an X/7 chromosome translocation indicated that EGF-binding ability segregates together with human MDHM and two X-linked markers, HPRT and glucose-6-phosphate dehydrogenase (G6PD; D-glucose-6-phosphate: NADP (+) 1-oxidoreductase, EC 1. 1. 1. 49), that are located on the translocation chromosome 7p (+).

HPRT

translocation


Input: Therefore, tRA treatment and NIS gene transfection are potential tools for the diagnosis and treatment of thyroid cancer.

NIS

thyroid cancer

NIS

thyroid cancer


Input: Mechanistically, TBK1 silencing reduced FOXO3A binding to the ERα promoter by inducing the translocation of phosphorylated FOXO3A from the nucleus to the cytoplasm.

translocation


Input: The higher EEI per body weight suggests a possible increase of orexigenic mechanisms in untreated IGHD individuals, ensuring greater caloric intake, which would have adaptive advantages for small-sized individuals in environments with limited access to food.

IGHD

body weight


Input: These findings suggest that WASp plays a crucial role in B10 cell development and that WASp-deficient B10 cells may contribute to autoimmunity in WAS.

autoimmunity


Input: Neither the CCR2b-+/64I allele nor the SDF1-+/3' A allele, separately or in combination, had a significant impact on survival during the asymptomatic period of HIV infection.

asymptomatic


Input: ABCA6, ABCA7 and ABCA8 mRNAs were not detected in any tumors, but weak mRNA expression of ABCA10 was detected in all tumors examined.

tumors


Input: Dietary protein restriction and oral adsorbent AST-120 (AST) have been shown to slow progression of renal disease and attenuate hyperlipidemia in the Imai rats.

AST

renal disease


Input: In the present study we tested two polymorphisms in the alpha-2 macroglobulin gene, a 5 bp deletion at the 5' splice site of exon 18 and a G/A point mutation (V1000I) in exon 24, in a sample of 118 healthy, non demented controls and 238 consecutively recruited gerontopsychiatric patients, diagnosed as: Alzheimer' s disease (N = 88), mild cognitive impairment (N = 32), subjective cognitive complaints (N = 54) and depression/other psychiatric disorders (N = 64).

alpha-2 macroglobulin

depression

alpha-2 macroglobulin

depression


Input: For example, procoagulant and antifibrinolytic single nucleotide polymorphisms in the promoter and coding regions have been reported for alpha-thrombin, fibrinogen, factor V, protein C, endothelial protein C receptor, and plasminogen activator inhibitor-1.

endothelial protein C receptor

fibrinogen


Input: Our results demonstrate the feasibility of direct assessment of live, potentially pathogenic, antigen-specific interferon-gamma + CD4 + T cells taken from inflammatory lesions of patients with rheumatic diseases such as ReA.

rheumatic diseases


Input: The breakpoints of the translocation are located within the LCR-B low copy repeat on chromosome 22q11. 21, containing the palindromic AT-rich repeat (PATRR) involved in recurrent and non-recurrent translocations, and in an AT-rich sequence inside intron 1 of the TRC8 tumor-suppressor gene at 8q24. 13.

translocation


Input: Correlation and factor analyses revealed that mRNA levels for genes that did exhibit differential expression in schizophrenia (MAG, CNP, SOX10, CLDN11, and PMP2), as opposed to those that did not (MOBP and MBP), loaded on separate factors.

MBP

schizophrenia

MBP

schizophrenia


Input: Therefore, the aim of this study was to determine whether the biallelic NcoI polymorphism within the TNF locus is associated with the development of postoperative complications.

TNF

postoperative complications


Input: Out of 7 colon carcinoma cell lines, 2 showed gene amplification of cyclin E without gene amplification of CDK2.

cyclin E

colon carcinoma


Input: The results suggested that RHAMM expression may be correlated with tumor aggressiveness and offer clues to the development of new treatments for human OSCCs.

RHAMM

aggressiveness


Input: This is the first study to identify genes aberrantly methylated in rat mammary carcinomas, and Angptl4 is a novel methylation-silenced gene both in rat and human mammary carcinomas.

human mammary carcinomas

human mammary carcinomas


Input: Inhibition of cyclooxygenase-2 reduces the protective effect of hepatocyte growth factor in experimental pancreatitis.

hepatocyte growth factor

pancreatitis

hepatocyte growth factor

pancreatitis


Input: The presence of FGF, VEGF, PDGF-A and TGFbeta RII is modified in the course of I/R-induced acute pancreatitis.

PDGF-A

acute pancreatitis


Input: Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case.

TKFC

developmental delay

TKFC

developmental delay


Input: We found hRFT2 mutations in 3/6 patients manifesting deafness or abnormal BAERs.

deafness


Input: Mean preoperative CA-125 levels were not significantly different among BRCA1 (2289 U/ml), BRCA2 (2586 U/ml), and sporadic (3307 U/ml) cases (P = 0. 5).

sporadic


Input: Twenty-four of the differentially regulated genes were previously identified by genome-wide association studies of alcohol use disorders; this raises the potential interest of genes not normally associated with alcoholism, such as suppression of tumorigenicity 18 (ST18), BCL2-associated athanogene 3 (BAG3), and von Willebrand factor (VWF).

von Willebrand factor

alcohol use disorders

von Willebrand factor

alcohol use disorders


Input: Limited caspase 3 activation and the predominance of ultrastructural features of necrotic cell death suggest a switch from apoptosis to necrosis in affected neurons.

caspase 3

necrosis


Input: Samples of leukemic cell DNA from 14 children with acute nonlymphocytic leukemia (ANLL) and 4 human myeloid leukemia cell lines were analyzed for rearrangement in the heavy chain region of the immunoglobulin gene.

heavy chain

myeloid leukemia


Input: In addition to ischemic stroke, the peripheral S100B level may also be useful as a biomarker for intracerebral hemorrhage (ICH).

intracerebral hemorrhage

intracerebral hemorrhage


Input: Amplifiable DNA was obtained from three cases of patients on HAART who died due to primary pathology other than HAD: (1) cardiovascular disease, a disease associated with HAART therapy; (2) bacterial infections, including Mycobacterium avium complex, rapid occurrence of extreme dementia; and (3) acquired immunodeficiency syndrome (AIDS)-related lymphoma with meningeal involvement.

HAD

immunodeficiency syndrome


Input: FLT3 deregulation was associated with overexpression of a network of receptor kinases (RKs), potentially responsible for redundancies and sporadic response to specific FLT3 inhibition.

sporadic


Input: Gastroenteropancreatic (GEP) neuroendocrine carcinomas (NECs) and mixed adenoneuroendocrine carcinomas (MANECs) are heterogeneous neoplasms characterized by poor outcome.

GEP

carcinomas


Input: We therefore conclude that CMT patients with slightly reduced or nearly normal nerve conduction velocity should be screened for MPZ mutations, particularly when additional clinical features such as marked sensory disturbances, pupillary abnormalities or deafness are also present.

MPZ

deafness


Input: In DDX10 and NUP98, the inv (11) breakpoints occurred within two introns of each gene and the two genes merged in-frame to produce the chimeric transcripts characteristic of this translocation.

translocation


Input: This study showed consistent expression and common mutational activation of PDGFRA in small intestinal inflammatory fibroid polyps as in their gastric counterparts, and these lesions should be considered PDGFRA-driven benign neoplasms.

PDGFRA

benign neoplasms


Input: Induction of SAA1 expression was also demonstrated during contact hypersensitivity induced by topical application of oxazolone.

contact hypersensitivity

contact hypersensitivity


Input: A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis.

disseminated superficial actinic porokeratosis

disseminated superficial actinic porokeratosis


Input: A20 deletion and gain at TNFA/B/C locus may thus play an important role in the development of translocation-negative MALT lymphoma.

TNFA

translocation


Input: Enteric aganglionosis in Hirschsprung disease has been linked to genes coding for endothelin-3 (EDN3) and the endothelin B receptor (EDNRB), but there is no such linkage in most patients with sporadic Hirschsprung disease.

sporadic


Input: In this study, we aimed to reassess whether the GNB3 rs5443 single nucleotide polymorphism could influence weight reduction and body composition change under sibutramine therapy in 131 obese Taiwanese patients.

weight reduction


Input: The PAX8-PPARG gene fusion results in the production of a Pax-8-PPAR-& #947; fusion protein (PPFP), which is found in approximately one-third of follicular thyroid carcinomas, as well as some follicular-variant papillary thyroid carcinomas.

PPARG

papillary thyroid carcinomas

PPARG

papillary thyroid carcinomas


Input: Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

carnitine-acylcarnitine translocase deficiency

carnitine-acylcarnitine translocase deficiency


Input: It is not known if addition of exogenous CX3CL1 beyond otherwise physiologically normal levels could decrease microglia activation and thereby minimize the secondary neurodegeneration following a neurotoxic insult.

neurodegeneration


Input: Tumor microenvironmental hypoxia induces hypoxia inducible factor-1α (HIF-1α) overexpression, leading to the release of lysyl oxidase (LOX), which crosslinks collagen at distant sites to facilitate environmental changes that allow cancer cells to easily metastasize.

LOX

hypoxia


Input: Knockdown of MUC5AC reduced the ability of pancreatic cancer cells to adhesion and invasion, suggesting that MUC5AC might contribute to the invasive motility of pancreatic cancer cells by enhancing the expression of integrins, MMP-3, VEGF and activating Erk pathway.

adhesion


Input: Lipocalin-2 levels correlated with insulin resistance (homeostasis model assessment of insulin resistance) and inflammation (CRP) in whole cohorts and NAFLD, whereas cathepsin S and chemerin only correlated positively with insulin resistance and inflammation in whole cohorts.

CRP

insulin resistance


Input: The results confirmed a major role for hippocampal and hypothalamic NPY system in the pathophysiology of mood disorders.

NPY

mood disorders

NPY

mood disorders


Input: In human ALCL cells lentiviral-mediated ALK knock-down leads to G (1) cell-cycle arrest and apoptosis in vitro and tumor growth inhibition and regression in vivo.

ALK

regression


Input: As expected, hypoxia (1% pO2) further induced HIF-1α protein levels along with its target genes VEGF and LOX.

LOX

hypoxia


Input: For European Americans, significant differences in individual cases versus controls were observed between FMO3 158 and 257 alleles and genotype frequencies and schizophrenia delusions, hallucinations, and weight gain/increased appetite but this was not observed in a replicated population.

delusions


Input: NGF is also an inflammatory mediator associated with pain and itch.

NGF

itch


Input: Two NRAMP 1 polymorphisms, INT4 and 5-(CA) n, were significantly associated with susceptibility to tuberculosis in aboriginals (p = 0. 0070 and p = 0. 0031, respectively).

susceptibility to tuberculosis


Input: In this article, we report that POU5F1 was fused to EWSR1 in a case of undifferentiated sarcoma derived from pelvic bone with chromosomal translocation t (6; 22) (p21; q12).

chromosomal translocation


Input: Ovalbumin (OVA)-induced asthma models were used in PAC1R-deficient mice and BALB/c mice treated with PAC1R agonist maxadilan (MAX).

MAX

asthma


Input: These results suggest that aberrant methylation and hence silencing of TIMP3, SLC5A8, DAPK and RARbeta2, in association with BRAF mutation, may be an important step in PTC tumorigenesis and progression.

DAPK

tumorigenesis


Input: Integrin-linked kinase (ILK), an intracellular serine/threonine kinase, is implicated in cell growth and survival, cell-cycle progression, tumor angiogenesis, and cell apoptosis.

serine/threonine kinase

tumor angiogenesis


Input: Growth under conditions of osmotic stress and high glucose concentration increased both PLB secretion and subsequent cryptococcal adhesion.

PLB

adhesion


Input: In addition, DDR also recognizes exogenous genetic material, such as the viral DNA genome entering the nucleus during infections.

DDR

infections


Input: The present study suggests a possible association of the T/T genotype of GCKR rs1260326 polymorphism with elevated risk of CKD and its interaction with current smoking, which may support the possibility of performing risk evaluation and prevention of this potentially life-threatening disease based on genetic traits in the near future.

GCKR

smoking


Input: A decreased percentage of CD29 + and CD11b + lymphocytes was observed in hyperthyroid patients in comparison with Hashimoto' s thyroiditis patients and healthy controls.

hyperthyroid