Input: We detected the E318G mutation in four FAD cases, seven sporadic AD cases and 10 control individuals with highly varying onset-ages.

FAD

sporadic


Input: These data imply that the expression of IL-17 cytokines and their receptor are elevated during myocardial I/R injury and may play a fundamental role in post infarct inflammatory and apoptotic responses.

infarct


Input: Although the WNK4 disease-causing mutants E562K, D564A, Q565E, and R1185C retained their ability to upregulate TRPV5, the blocking effect of NCC was further strengthened when wild-type WNK4 was replaced by the Q565E mutant, which causes FHH with hypercalciuria.

NCC

hypercalciuria


Input: Lack of the phosphatase PTPN22 increases adhesion of murine regulatory T cells to improve their immunosuppressive function.

adhesion


Input: Here, we examined the effect of capsaicin on SNU-1 and TMC-1 gastric cancer cells and found differing outcomes between the two cell lines.

TMC

gastric cancer


Input: Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Global Developmental Delay

Global Developmental Delay


Input: We have reported differences between fibroblasts cultured from normal scars and keloids that include a pattern of glucocorticoid resistance and altered regulation of genes in several signaling pathways associated with fibrosis, including Wnt and IGF/IGF-binding protein 5 (IGFBP5).

scars


Input: To explore hepatocyte transplantation (HT) as therapy for metabolic liver diseases, 8-week-old LEC rats (n = 12) were transplanted by intrasplenic injection of hepatocytes from donor Long Evans (LE) rats.

LEC

liver diseases


Input: Neurological picture. Orolingual angio-oedema after alteplase therapy in a stroke patient concurrently using angiotensin II receptor blocker.

alteplase

angio-oedema

alteplase

angio-oedema


Input: Taken together, our data support the hypothesis of an implication of NEDD8 through p27 and beta-catenin pathways in the disruption of adipogenesis and consequent lipodystrophy in patients affected by HIV infection under HAART therapy with qualitative and quantitative differences according to diverse antiretroviral treatments.

lipodystrophy


Input: These new findings demonstrate that the spectrum of TUBB3-related phenotype is broader than previously described and includes malformations of cortical development (MCD) associated with neuronal migration and differentiation defects, axonal guidance and tract organization impairment.

neuronal migration

malformations of cortical development


Input: Variants of MCPH1, FYN, APC, PRKCA, NIN, TopBP1, RIPK1, and SNW1 were not independently associated with pancreatic cancer risk.

NIN

pancreatic cancer


Input: Conversely, expression of GATA3, a key T-cell developmental gene silenced in aggressive lymphoma cells, was partially restored by PCM1-JAK2 knockdown.

aggressive lymphoma


Input: These results provided a new explanation for the enrichment of the Sp1 protein in various cancers, and revealed a regulation of SUMO2/3 conjugated proteins whose levels may be tightly controlled by SENP3 and RNF4.

cancers


Input: Our results demonstrate a major role for beta4-containing nicotinic acetylcholine receptors in the appearance of nicotine withdrawal symptoms.

withdrawal symptoms


Input: Associated with dry eye were 6 up-regulated proteins, alpha-enolase, alpha-1-acid glycoprotein 1, S100 A8 (calgranulin A), S100 A9 (calgranulin B), S100 A4 and S100 A11 (calgizzarin) and 4 down-regulated proteins, prolactin-inducible protein (PIP), lipocalin-1, lactoferrin and lysozyme.

enolase, alpha

dry eye


Input: Mutations at these two hotspots constitute & gt; 20% of the X-linked SCID mutations found by our group and a similar proportion of all reported IL2RG mutations.

X-linked SCID

X-linked SCID


Input: In patients with-55CC UCP3 genotype, a high mono-unsaturated hypocaloric diet reduced BMI, weight, waist circumference, waist to hip ratio, fat mass, LDL-cholesterol, total cholesterol and leptin levels.

mono


Input: These results indicate that PDE4A and PLAT may be susceptibility genes for schizophrenia in the Japanese population.

schizophrenia

schizophrenia


Input: This numerically rare B-cell subset is therefore functionally referred to as' B10 cells' to reflect both their molecular program and the fact that their anti-inflammatory effects in models of autoimmunity, infection and cancer are solely attributable to IL-10 production.

autoimmunity


Input: Compared with the classic PCR approach, this new method allows the amplification of the DAZLA copy to be used as an effective internal control in infertile men with microdeletion of the DAZ locus.

DAZ

infertile


Input: Here, we identify and characterize a nuclear zinc finger protein, ZNF335/NIF-1, as a causative gene for severe microcephaly, small somatic size, and neonatal death.

neonatal death


Input: There was a positive correlation between age, weight, height, bone age, and the various elements of the GH/IGF-I axis when all groups were considered, although the correlation was lost when the auxologic data were expressed as standard deviation score for age.

IGF-I

weight


Input: Moreover, it has been shown that phosphorylation-mediated inactivation of PTEN (phosphatase and tensin homolog) in RPE is closely linked to AMD-like retinal degeneration in mice [1].

RPE

retinal degeneration


Input: Re-analysis of a microarray database of human postmortem prefrontal cortex (Brodmann' s Area 46/10) found that RNF41 messenger RNA expression levels were reduced significantly in patients with major depression and bipolar disorder compared with unaffected control subjects and confirmed by qRT-PCR.

major depression

major depression


Input: Four patients with B27-JA, and none in the control group, had inflammatory aortic regurgitation.

aortic regurgitation


Input: Ring finger protein (RNF) 180 has been shown to participate in the processes of lymph node metastasis in several human malignancies.

RNF

lymph node metastasis


Input: The results demonstrate the existence of a novel OCT preferentially expressed in human hematopoietic tissues, including CD34 (+) cells and leukemia cells.

OCT

leukemia


Input: Streptococcus pyogenes (or group A streptococcus [GAS]) is a major human pathogen causing infections, such as tonsillitis, erysipelas, and sepsis.

GAS

erysipelas


Input: Previous studies indicate that the regions, where the ACHE (7q22) and BCHE (3q26. 1-q26. 2) genes are localized, are suffering such structural modifications in breast cancer.

BCHE

breast cancer

BCHE

breast cancer


Input: Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms resulting from the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases.

PDGFRA

abnormalities


Input: COL3A1 mutation leading to acrogeria (Gottron Type)

acrogeria (Gottron Type

acrogeria (Gottron Type


Input: By using flow cytometry and western blotting, here we show that hypermethylated in cancer 1 can deregulate ecotropic viral integration site 1-mediated blockage of apoptosis.

viral integration site 1

cancer


Input: In overweight, nondiabetic Chinese adults, G482S polymorphism in the PPARGC1A gene is associated with hyperinsulinemia, HOMA-IR indices, and abdominal obesity.

PPARGC1A gene

overweight


Input: The effect of low molecular weight isoforms of cyclin E (LMW-E) overexpression on mitotic progression and its link to genomic instability were the focus of this study.

cyclin E

genomic instability


Input: Role of activator protein-1 in the down-regulation of the human CYP2J2 gene in hypoxia.

CYP2J2 gene

hypoxia


Input: A unique mutation in KLF1, which encodes the erythroid transcription factor KLF1, causes major ultrastructural abnormalities, the persistence of embryonic and fetal hemoglobins, and the absence of some red cell membrane proteins.

abnormalities


Input: Based on our genetic results, TTC7A is the likely causal gene for MIA.

MIA

MIA


Input: NARP is a recently described, maternally inherited mitochondrial syndrome in which a retinal dystrophy, among other abnormalities, is related to a mutation of the mtDNA at nucleotide 8993.

NARP

abnormalities


Input: Cross-sectional studies disclosed a marked increase of miR-140-5p, miR-142-3p, and miR-222 and decreased miR-423-5p, miR-125b, miR-192, miR-195, miR-130b, miR-532-5p, and miR-126 in T2D patients.


Input: We assessed 41 PCCs/PGLs for mutations in EPAS1 and herein describe the clinical, molecular and genetic characteristics of the 7 patients found to carry somatic EPAS1 mutations; 4 presented with multiple PGLs (3 of them also had congenital erythrocytosis), whereas 3 were single sporadic PCC/PGL cases.

PGLs

congenital erythrocytosis


Input: Genotyping was performed for HLA class I and II alleles as well as polymorphisms within tumor necrosis factor (TNF), lymphotoxin alpha (TLalpha) and heat shock protein (HSP70-02 and HSP70-hom) genes.

shock


Input: These results warrant further study of ZIC2 in the pathogenesis of schizophrenia.

schizophrenia

schizophrenia


Input: Furthermore, a synthetic peptide mimicking domain 491-504 of gp91-phox inhibited NADPH oxidase activity in the cell-free assay (IC50 about 10 microM), and the translocation of p47-phox and p67-phox in the cell-free translocation assay.

translocation


Input: Polymorphism of the LMP2 gene and disease phenotype in ankylosing spondylitis: no association with disease severity.

spondylitis


Input: The results have shown that pilocarpine administration and resulting SE produced a significant increase in hippocampal catalase activity of (88%).

catalase

SE

catalase

SE


Input: Furthermore, formation of CK8 and CK18 complexes due to CK8 phosphorylation at Ser73 and Ser431 was found to be strongly associated with promotion of hepatocarcinogenesis by PB and the development of hepatocellular carcinomas.

hepatocarcinogenesis


Input: ALCAM, a member of the immunoglobulin superfamily, was detected as one of the most highly upregulated genes among 103 cell-adhesion molecules with microarray analysis.

ALCAM

adhesion


Input: Cardiac death groups showed higher ANP and/or BNP mRNA expressions in the left ventricle than acute fatal bleeding (sharp instrumental injury; n = 15) and/or mechanical asphyxiation (strangulation; n = 10).

ANP

asphyxiation


Input: This report describes an autosomal recessive form of spastic tetraplegic cerebral palsy with profound intellectual disability, microcephaly, epilepsy and white matter loss in a consanguineous family resulting from a homozygous deletion involving AP4E1, one of the four subunits of the adaptor protein complex-4 (AP-4), identified by chromosomal microarray analysis.

profound intellectual disability


Input: Children with AMC or congenital heart disease, or both, and motor neuron disease should undergo testing for SMN (T) deletion.

SMN

congenital heart disease


Input: We recently reported a mutation in the PRKAG2 gene to be responsible for a familial syndrome of ventricular preexcitation, atrial fibrillation, conduction defects, and cardiac hypertrophy.

PRKAG2 gene

cardiac hypertrophy


Input: There were significant interactions between SULT1A1 * 3 and hot flashes (P & lt; 0. 001) and between SULT1A1 * 2 and depressive symptoms (P = 0. 007) on menopausal stage, and there were race-specific effects of SULT1A1 * 2, SULT1A1 * 3, CYP1B1 * 3, and CYP3A4 * 1B on menopause.

depressive symptoms

depressive symptoms


Input: Analysis of the relationship between ING3 staining and clinico-pathological characteristics of HCC showed that the low expression of ING3 protein is correlated with more aggressive behavior of the tumor.

HCC

aggressive behavior


Input: The inhibitory migratory response to ascites and LPA was also observed in the cells treated with pertussis toxin (PTX), a G (i) protein inhibitor, and attenuated by a small interfering RNA (siRNA) specific to the LPA (2) receptor.

LPA

ascites


Input: Variants at the FTO, TMEM18, FAIM2, RBJ, ZNF608 and QPCTL loci yielded nominal evidence for association with BMI and/or overweight risk (p < 0. 05).

RBJ

overweight


Input: Using BMPRII siRNA and BMPRII (+/-) mice, we found that specific knockdown of BMPRII, but not other BMP receptors (Alk1, Alk2, Alk3, Alk6, ActRIIa, and ActRIIb), induced endothelial inflammation in a ligand-independent manner by mechanisms mediated by reactive oxygen species, nuclear factor-KappaB, and reduced nicotinamide adenine dinucleotide phosphate oxidases.

ActRIIb

inflammation


Input: Downstream therapeutic targeting of the Wnt5a-TMEM67-ROR2 axis might, therefore, reduce or prevent pulmonary hypoplasia in ciliopathies and other congenital conditions.

pulmonary hypoplasia


Input: Salient findings include a nonsynonymous SNP (rs1056513) in INADL (p = 1. 2E-07) for weight; an intronic variant in MTNR1B associated with fasting glucose (p = 3. 7E-08); variants in the APOA5-ZNF259 region associated with triglycerides (p = 2. 5-4. 8E-08); an intronic variant in PCSK2 associated with total antioxidants (p = 7. 6E-08); a block of 23 SNPs in XPA/FOXE1 (TTF-2) associated with serum TSH (p = 5. 5E-08 to 1. 0E-09); a nonsynonymous SNP (p = 1. 3E-21), an intronic SNP (p = 3. 6E-13) in DARC identified for MCP-1; an intronic variant in ARHGAP11A associated with sleep duration (p = 5. 0E-08); and, after adjusting for body weight, variants in MATK for total energy expenditure (p = 2. 7E-08) and in CHRNA3 for sleeping energy expenditure (p = 6. 0E-08).

DARC

body weight


Input: Shunt-operated TGR/hALC-1 and WKY rats developed comparable levels of cardiac hypertrophy which was associated with significant reduction of contractile parameters of the Langendorff hearts.

TGR

cardiac hypertrophy


Input: Instead, our data supported an XRCC1 x smoking interaction (P = 0. 048).

smoking


Input: Loss of heterozygosity (LOH) on chromosome arm 18q is common in sporadic prostate cancer and may be involved in cancer development through inactivation of tumor-suppressor genes (TSG).

TSG

prostate cancer


Input: TNF-α could significantly increase the translocation of NF-κB p65 protein into the nucleus in a dose-dependent manner, while SB203580 partially inhibited.

TNF-α

translocation


Input: We attempted to estimate the association of gene variants with neurodevelopmental disorders in patients with autism-epilepsy phenotype (AEP) and cranial overgrowth, analyzing two genes previously reported to be associated with autism and macrocephaly.

AEP

macrocephaly


Input: We report a sporadic case of chronic progressive external ophthalmoplegia that developed during childhood and was associated with ragged-red and cytochrome c oxidase (COX)-negative fibers in skeletal muscle.

COX

sporadic


Input: Reduced thrombosis in Klkb1-/-mice is mediated by increased Mas receptor, prostacyclin, Sirt1, and KLF4 and decreased tissue factor.

thrombosis

thrombosis


Input: Quantitative expression analysis of the genes flanking the breakpoints, revealed increased transcript levels for SFRS protein kinase 1 (SRPK1) and TAO kinase 1 (TAOK1) which suggests a positional effect due to the translocation.

translocation


Input: We identified mutations in ARL13B in two families with the classical form of JS.

JS

JS


Input: The frequency, nature, and distribution of p53 abnormalities, their temporal relationship to the metastatic and clinicopathologic phenotypes of sporadic and familial pancreatic cancer, and their consequent effects on the genetics and expression of critical wild-type p53-regulated genes (mdm-2 and p21/WAF-1) warrant examination in pancreatic adenocarcinoma.

sporadic


Input: Fifteen days prior to coronary artery occlusion, rabbits were treated with intramyocardial injections of AdCMV. sp + aFGF (1-154), the control vector AdCMV. NLSbetagal (1 x 10 (9) plaque-forming units), or saline.

aFGF

coronary artery occlusion


Input: This translocation encodes the EWS/FLI fusion protein.

EWS

translocation


Input: We assessed the CpG island methylator phenotype (CIMP) using eight methylation markers [CACNA1G, CDKN2A (p16), CRABP1, IGF2, MLH1, NEUROG1, RUNX3, and SOCS1], and LINE-1 (L1) hypomethylation, TP53 (p53), and microsatellite instability (MSI).

microsatellite instability


Input: These results indicate a potential role for synovial AQP1 and other aquaporins in joint swelling and the vasogenic edema fluid formation and hydrarthrosis associated with synovial inflammation.

joint swelling


Input: The hearts were then arrested by soaking them in cold St. Thomas Hospital II solution (STH) for 5, 7, and 15 h. Reperfusion was performed by low-flow cold STH delivering for 1 h followed by 15-min aerobic normothermic KH perfusion.

STH

cold


Input: To evaluate Wnt5a expression and its role in angiogenesis of non-small-cell lung cancer (NSCLC), immunohistochemistry and CD31/PAS double staining were performed to examine the Wnt5a expression and we analyze the relationships between Wnt5a and microvessel density (MVD), vasculogenic mimicry (VM), and some related proteins.

MVD

lung cancer


Input: Since ERalpha and ERbeta mediate opposing transcriptional activities, any effect of estrogen on the growth and development of fibroids is likely to be complex and may involve both SMC and MEC.

SMC

fibroids


Input: Although the allelic variation at the confirmed IL-13 locus explains too little of the between-individual variation of circulating IgE to be of use for clinical prediction on its own, the discovery of additional susceptibility loci in the future may aid in the stratification of atopic subjects and improve risk assessment.

atopic


Input: Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme (ACE) inhibitors.

ACE

teratogenic effects


Input: Our results suggest that this mutation could be a risk factor in the Finnish FAD and sporadic AD population.

FAD

sporadic


Input: A candidate-based genetic screen in Drosophila expressing 30 G4C2 repeats identified RanGAP (Drosophila orthologue of human RanGAP1), a key regulator of nucleocytoplasmic transport, as a potent suppressor of neurodegeneration.

neurodegeneration


Input: We evaluated the relationship between biological behavior and microsatellite instability (MSI) status, with or without p53 status, in sporadic colorectal carcinoma.

sporadic


Input: TL was measured by quantitative PCR in 178 sporadic and 168 hereditary ovarian cases (46 BRCA1, 12 BRCA2, and 110 BRCAX) and compared to TL in 267 controls.

sporadic


Input: Since LTG is primarily metabolized by UGT1A4 and this isozyme is shown to be present in placenta at term, it may be hypothesized that the placenta is involved in the fall of LTG serum concentrations during pregnancy.

fall


Input: The relationship between GGT and BMI was estimated after splitting the sample into normal (BMI < or = 25 kg/m2) and overweight (BMI > 25 kg/m2) subjects.

GGT

overweight


Input: Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.

acid beta-glucosidase

Type 1 Gaucher disease

acid beta-glucosidase

Type 1 Gaucher disease


Input: This study replicates the previous finding of a high rate of conversion from BD-NOS to BD-I or II among youth, and suggests conversion is related to symptoms of bipolar disorder or depression diagnoses in the family history.

NOS

depression

NOS

depression


Input: In the definite M-D group, 50% carried an SGCE mutation and one single patient in the probable group (4%).

SGCE

M-D

SGCE

M-D


Input: Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus.

sporadic


Input: PURPOSE: Tumor protein D54 (TPD54) belongs to the TPD52 family of proteins and is expressed in several types of cancer, including oral squamous cell carcinoma (OSCC).

squamous cell carcinoma


Input: 2) IL28Brs12979860 polymorphisms are not associated with disease progression or aggression (histological staging, severity of fibrosis in CH or the incidence of post-HCV HCC).

HCC

aggression


Input: The goal of this study was to determine the role of an influx copper transporter, CTR1, in the ototoxicity induced by cisplatin, a potent anticancer platinum analog used in the treatment of a variety of solid tumors.

ototoxicity


Input: These patients had extremely low naive CD4 (+) T-cell counts, which were more severely reduced compared with those seen in patients with classical AT without hypogammaglobulinemia.

hypogammaglobulinemia


Input: Regarding C/A polymorphism in intron 1 at position 734, no significant difference was found in the plasma concentrations of HAL corrected for dose and weight among the subjects with A/A (n = 21), A/C (n = 14) and C/C (n = 5) genotypes (one-way analysis of variance: 63. 1 +/-18. 5, 47. 8 +/-12. 5 and 50. 8 +/-15. 1 ng/ml/mg/kg, respectively, F (2, 37) = 2. 556, P =. 09).

HAL

weight


Input: PSAPP/S100A1 (-/-) mice exhibited decreases in astrocytosis (GFAP burden), microgliosis (Iba1 burden) and plaque load/number when compared to PSAPP/S100A1 (+/+) mice at six and twelve months of age.

plaque


Input: Here, we show that Maged1-deficient mice develop progressive obesity associated with hyperphagia and reduced motor activity.

hyperphagia


Input: Here we have found the disruption of two genes encoding putative cell-adhesion molecules, CDH15 (cadherin superfamily) and KIRREL3 (immunoglobulin superfamily), by a chromosomal translocation t (11; 16) in a female patient with intellectual disability (ID).

adhesion


Input: Our objective was to describe the association between polymorphisms at the KCNQ1 locus with insulin resistance, beta-cell function, and other type 2 diabetes-related traits in a sample of Chinese, Malays, and Asian Indians living in Singapore.

insulin resistance


Input: This case provides a second report of a PEO with different mutations in the POLG and C10orf2/Twinkle genes, supporting the hypothesis that the PEO phenotype can be determined by the co-existence of two abnormalities in separate genes, both involved in the maintenance and stability of mtDNA.

PEO

abnormalities


Input: Older age was significantly correlated with increases in VIQ relative to PIQ in the patient group, which suggests the intriguing possibility that the PIQ < VIQ subgroup primarily emerges in young adulthood, perhaps in response to the reported hormonal abnormalities detected in Klinefelter syndrome patients during puberty.

PIQ

abnormalities


Input: In addition, siRNA was used to silence ROR1, ROR2 and Wnt5a individually, and together, in two ovarian cancer cell lines, and the effects on cell proliferation, adhesion, migration and invasion were measured.

adhesion


Input: Loss of Prox1 also decreased autophagy and the survival of hypoxic tumor cells in tumor transplants.

hypoxic


Input: In addition, a long-lived RTCGD-hit clone, L-34, had a retroviral integration at a position 179 kb upstream of the EVI1 gene.

hit


Input: NAT2 slow acetylation and GSTM1 null genotypes may increase postmenopausal breast cancer risk in long-term smoking women.

smoking


Input: Pituitary tumor-transforming gene-1 is usually expressed in most pituitary tumors, and little is known about phosphatase and tensin homologue (PTEN).

tensin

pituitary tumors


Input: Protection of ischemic post conditioning against transient focal ischemia-induced brain damage is associated with inhibition of neuroinflammation via modulation of TLR2 and TLR4 pathways.

ischemia


Input: In these experiments we used both pharmacologic and genetic approaches to test the hypothesis that IDO activation is responsible for the development of chronic depression that follows BCG infection.

IDO

chronic depression

IDO

chronic depression


Input: Parathyroid hormone-related protein protects against mammary tumor emergence and is associated with monocyte infiltration in ductal carcinoma in situ.

Parathyroid hormone-related protein

mammary tumor


Input: Mutations of the EGFR and HER2 genes were more frequently found in female never or light-smoking patients with adenocarcinoma, and there were no tumors that had two or more mutations simultaneously among EGFR, HER2 and KRAS.

smoking


Input: The present results in amygdala kindling and chemical seizure models suggest that NPY may play a more prominent role in determining seizure thresholds and severity of seizures than in events leading to epileptogenesis.

NPY

seizure

NPY

seizure


Input: Specifically, JAM-A expressed on human CD34 (+) progenitor cells regulates their adhesion over immobilized platelets or inflammatory endothelium under high shear stress in vitro and after carotid ligation in vivo or ischemia/reperfusion injury in the microcirculation of mice.

JAM-A

ischemia


Input: To explore the immunogenetic features of human leukocyte antigen DRB1, DQB1 locus and children with Helicobacter pylori (H. pylori) infection in Han ethnic population in Kunming and its association with digestive diseases and H. pylori to better understand the immunogenetic features of the H. pylori infection.

digestive diseases


Input: Treatment with alpha interferon of chronic hepatitis is necessary to delary or prevent the progression to liver cirrhosis and development of HCC.

HCC

chronic hepatitis


Input: Healing of duodenal ulcers is not impaired by indomethacin or rofecoxib, the selective COX-2 inhibitor, in rats.

duodenal ulcers

duodenal ulcers


Input: To examine whether overexpression of EMSY would mimic the chromosome instability phenotype that is associated with the loss of Brca2 function, we constructed a lentiviral vector (Lenti-EMSY/GFP) that encodes a truncated form of the Emsy protein, including its Brca2-interacting domain, and green fluorescent protein (GFP) and used it to transduce human telomerase-immortalized human breast epithelial (184-hTert) cells, which have a nearly normal karyotype.

chromosome instability


Input: Discordant findings for interferon gamma, cytotoxic T cells, B cells, and plasma cells challenge a critical role for these factors in the process of aneurysm growth.

interferon gamma

aneurysm


Input: Alterations of the tumor suppressor gene ARLTS1 in ovarian cancer.

ovarian cancer

ovarian cancer


Input: To define the contribution of A20 to rheumatoid arthritis pathology, we generated myeloid-specific A20-deficient mice and show that specific ablation of Tnfaip3 in myeloid cells results in spontaneous development of a severe destructive polyarthritis with many features of rheumatoid arthritis.

polyarthritis


Input: Our results with the colocalization of phosphorylated ATM and γ-H2AX with 8-oxodG and 8-nitroguanine in inflammation-related cancer tissues suggest that DNA base damage leads to double-stranded breaks.

inflammation


Input: Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.

epsilon-sarcoglycan

myoclonus-dystonia

epsilon-sarcoglycan

myoclonus-dystonia


Input: In myeloid leukemia cells, CDP/cut binding activity as assayed on the promoter of the phagocyte-specific cytochrome heavy chain gene gp91-phox varies inversely with expression of gp91-phox mRNA.

heavy chain

myeloid leukemia


Input: To analyze downstream cascades of ALK3 signaling, we utilized adenovirus vectors carrying either Smad1 to stimulate Smad pathways or constitutively active MKK6 (MKK6CA) to activate p38 pathways.

adenovirus


Input: Methylation status of the 32 randomly selected and 16 potential tumor-related genes was analyzed in 10 primary gastric cancers, and 42 genes (ABHD9, ADFP, ALDH1A3, ANXA5, AREG, BDNF, BMP7, CAV1, CDH2, CLDN3, CTSL, EEF1A2, F2R, FADS1, FSD1, FST, FYN, GPR54, GREM1, IGFBP3, IGFBP7, IRS2, KISS1, MARK1, MLF1, MSX1, MTSS1, NT5E, PAX6, PLAGL1, PLAU, PPIC, RBP4, RORA, SCRN1, TBX3, TFAP2C, TNFSF9, ULBP2, WIF1, ZNF177 and ZNF559) were methylated in at least one primary gastric cancer.

AREG

gastric cancers

AREG

gastric cancers


Input: Our results indicate that C15orf53 is probably neither causative for the etiology of BD nor for SCZD10 in our samples.

BD

BD


Input: A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea.

uromodulin

familial juvenile hyperuricemic nephropathy

uromodulin

familial juvenile hyperuricemic nephropathy


Input: Here, we searched for deletions within recently identified SOX10 regulatory sequences and describe the first characterization of a WS4 patient presenting with a large deletion encompassing three of these enhancers.


Input: Reverse transcription polymerase chain reaction and direct sequencing analysis revealed that the tumor harbored a t (11; 22) translocation, involving EWSR1 and FLI-1, which are characteristic of EFTs.

translocation


Input: In particular, we found decreased NF-L, PSD95, and SAP102 transcripts in bipolar disorder, and decreased SAP102 levels in major depression.

major depression

major depression


Input: Among the upregulated genes that were validated by quantitative PCR and western blotting we recognized several interferon-stimulated genes (ISGs: IFIT1, IFIT2, IFIT3, IFI6, IRF7, ISG15, HLA-DRA, HLA-DRB, TLR3 and CIITA), as well as genes involved in intercellular adhesion and matrix remodeling.

HLA-DRA

adhesion


Input: The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

aspartoacylase

Canavan disease

aspartoacylase

Canavan disease


Input: The immunoreactivity of the stromal cells was more abundant in the intestinal type than in the diffuse type, and these stromal expressions of seprase in the intestinal type correlated with the liver (13/13 = 100% of cases with metastases) or lymph node metastases (33/34 = 97% of cases with metastases).

seprase

lymph node metastases


Input: Associations between the IL-4-590 T allele and Plasmodium falciparum infection prevalence in asymptomatic Fulani of Mali.

asymptomatic


Input: Previous studies demonstrated its regulation through estrogens, suggesting possible importance of NUDT2 in breast carcinoma.

breast carcinoma

breast carcinoma


Input: We investigated PDGFRA abnormalities and their clinical impact on 619 primary diffuse gliomas, including 167 grade II, 168 grade III, and 284 grade IV gliomas, with use of BAC-aCGH and validated our findings by quantitative polymerase chain reaction (PCR).

PDGFRA

abnormalities


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

fibrosis


Input: T allele of the 511 site of IL-1β gene and V allele of the second introne of IL-1Ra gene might be the genetic basis of the rising of IL-1β, IL-1Ra and US-CRP levels in blood serum of PCOS patients, and are associated with the infertility occurrence of PCOS patients.

CRP

infertility


Input: Six PPARG SNPs (rs2959272, rs1386835, rs709158, rs1175540, rs1175544, and rs1797912) were significantly associated with the weight reduction, with rs1175544 having the strongest association (P = 0. 004).

PPARG

weight reduction


Input: The present data suggest that inactivation of the FHIT gene by loss of expression is one of the important molecular events associated with the genesis of ovarian carcinoma, especially of high-grade serous carcinoma.

FHIT gene

serous carcinoma


Input: None of our DRD patients without a mutation in GCH-1 had the 3-bp deletion recently detected in DYT1, the causative gene for idiopathic torsion dystonia with linkage to 9q34.

DRD

DRD


Input: We report on the findings of a novel heterozygous de novo SF3B4 mutation in a long-surviving patient with clinical features of Rodriguez syndrome including severe acrofacial dysostosis, phocomelia with pre-and post-axial limb defects, fibular agenesis, rib, and shoulder girdle anomalies.

agenesis


Input: The mouse model of bleomycin-induced dermal fibrosis was used to assess the role of JunD in experimental fibrosis.

JunD

fibrosis


Input: This study represents the first report to identify PLAUR as a potential asthma susceptibility gene and determine PLAUR regions underlying this association, including a role in influencing plasma PLAUR levels.

PLAUR

asthma susceptibility


Input: Results demonstrated that both liposomal transfer of HSP72 and thermal induction of HSP72 prevented NF-kappaB activation and translocation, TNF-alpha gene transcription, and subsequent ischemia-induced renal tubular cell apoptosis.

TNF-alpha

translocation


Input: To investigate the basis for this overlap, we genotyped a cohort of 44 LQT3 families of multiple ethnicities from 7 referral centers and found a high prevalence of the E1784K mutation in SCN5A.


Input: Seminal AMH was significantly higher in fertile than infertile OAT men.

OAT

infertile


Input: Vasopressin and other neuropeptides are believed to serve as autocrine growth factors for small-cell carcinoma of the lung (SCCL), and these mitogenic influences are reported to involve increases in intracellular Ca2 +.

carcinoma of the lung


Input: We compared expression levels of mRNA and protease activity of uPA and plasmin formation in primary cultures of the noninvasive transitional cell carcinoma, UCT-1, and in the highly invasive type, UCT-2.

uPA

transitional cell carcinoma

uPA

transitional cell carcinoma


Input: This association may be more widely recognized if routine determinations of alpha-1-antitrypsin are performed on patients in whom neutrophilic, ulcerative panniculitis develops without specific, defined underlying causes.

ulcerative


Input: Our findings of XYLT1 mutations in DBQD type 2 further support a common physiological basis involving PG synthesis in the multiple dislocation group of disorders.

DBQD

DBQD


Input: CONCLUSIONS: These data provide evidence that the rs2267668 A/G SNP in PPARD and the Gly482Ser SNP in PPARGC1A have both independent and additive effects on the effectiveness of aerobic exercise training to increase aerobic physical fitness and insulin sensitivity.

insulin sensitivity


Input: In addition to known HIF-1alpha target genes such as carbonic anhydrase 9, insulin-like growth factor binding protein-3 (IGFBP3) and cyclooxygenase (COX)-2, prostaglandin E synthase (PTGES) was identified as a novel target gene among the commonly upregulated genes in ESCC as well as the cells exposed to hypoxia.

COX

hypoxia


Input: Relative to asymptomatic controls, no significant differences were found for the distribution of mEH and GST polymorphic variants in cases with GERD, BE or EADC.

GST

asymptomatic


Input: To determine whether MGBs exert beneficial effects during endotoxemia through attenuating tissue inflammation via interfering with HMGA1-DNA binding and modulating expression of adhesion molecules.

adhesion


Input: Role of FDFT1 polymorphism for fibrosis progression in patients with chronic hepatitis C.

fibrosis


Input: Here, we show that IL-2-induced pulmonary edema is caused by direct interaction of IL-2 with functional IL-2 receptors (IL-2R) on lung endothelial cells in vivo.

pulmonary edema


Input: Hsp90alpha seems more relevant to the intrinsic aggressiveness of gastrointestinal stromal tumors, albeit less abundant than Hsp90beta.

aggressiveness


Input: Combined inhibition of PDE3 and 4 regresses development of pulmonary hypertension and promotes endothelial regeneration by modulating the ADMA-DDAH axis.

DDAH

pulmonary hypertension


Input: Although certain genotypic effects could be population-specific, we conclude that there is no compelling evidence that the N363S polymorphism of the GRL gene is associated with either average BMI or obesity risk.

GRL

obesity


Input: To explore whether the known NF-κB abnormalities in HaCaT cells could be related to this differential PRINS expression, we silenced the PRINS gene expression with small interfering RNA (siRNA) in both HaCaT cells and in NHKs and monitored NF-κB signal transduction after lipopolysaccharide (LPS) treatment.

PRINS gene

abnormalities


Input: Thus, inhibition of hepatic PGC-1beta may provide a therapy for treating combined hyperlipidemia.

PGC

hyperlipidemia


Input: Arginine starvation impairs mitochondrial respiratory function in ASS1-deficient breast cancer cells.

breast cancer


Input: In addition to JAK2 mutations, several genetic abnormalities, including TET2 and polycomb group genes involving epigenetic regulation have been reported in patients with MPN.

abnormalities


Input: We conclude that expression of TBX22 is entirely consistent with the CPX phenotype and that the mouse should provide a useful model for elucidating its role in craniofacial development.

CPX

CPX


Input: Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.

MITF

Tietz syndrome

MITF

Tietz syndrome


Input: Our results show that frequencies of p16 or cyclin D1 polymorphisms in gastric and esophageal ADC do not differ significantly from the healthy control group.

cyclin D1

esophageal


Input: The patient showed slowly progressive cerebellar ataxia from 2 years of age, and MRI revealed atrophy of the cerebellum, oculomotor apraxia, mild cognitive impairment, writing dystonia, hypergonadotropic hypogonadism with primary amenorrhea, and hypersegmented neutrophils.

MRI

oculomotor apraxia


Input: Akt2 regulates all Akt isoforms and promotes resistance to hypoxia through induction of miR-21 upon oxygen deprivation.

hypoxia


Input: In contrast to earlier findings with IL-8, the degree of ENA-78 mRNA upregulation was independent of the grade of activity of gastritis.

gastritis


Input: To test the hypothesis that individuals carrying the variant allele may be at high risk of gastric cancer, we identified the SULT1A1 Arg213His genotype by a PCR-based RFLP in a preliminary study of 76 gastric adenocarcinoma patients that underwent curative gastrectomy and 260 age and sex-matched controls from a medical centre in Rome.

gastric adenocarcinoma


Input: Immunohistochemistry on normal and interstitial lung disease lung sections has confirmed IL-22 protein expression.

interstitial lung disease


Input: Thus, activation of EphB4 enhances EPC proangiogenic capacity through induction of PSGL-1 expression and adhesion to E selectin and P selectin.

adhesion


Input: Our findings indicate that de novo defects in PHF6 in females result in a recognisable phenotype which might have been under-recognised so far and which comprises variable ID, a characteristic facial gestalt, hypoplastic nails, brachydactyly, clinodactyly mainly of fingers IV and V, dental anomalies, and linear skin hyperpigmentation.

skin hyperpigmentation


Input: The proliferative response of peripheral blood CD4 + T cells to recombinant hepatitis B core antigen (rHBcAg) has been studied in patients with chronic active hepatitis (CAH) type B (CAH-B), CAH-nonA nonB, and normal volunteers.

chronic active hepatitis


Input: We have shown that pro-inflammatory complement component 3 is increased by oxidative stress after ischemic stroke in mice using DNA array.

complement component 3

ischemic stroke


Input: Twenty four hours post-treatment, immunofluorescence staining with the anti-p120 monoclonal antibody showed reduced nucleolar protein p120 and translocation of the p120 protein from the nucleoli to the nucleoplasm.

translocation


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

IGF

weight


Input: We retested all undetectable CMV viremia found in patients with CD4 < 50/mmc, by CMV PCR kit (Qiagen Diagnostics).

viremia


Input: A t (9; 22) (q22; q12), creating a fusion protein of EWSR1 and NR4A3, has been reported as a unique, recurring translocation in most cases.

translocation


Input: Two of the polyneuropathy patients with IgM amyloidosis had antibodies to MAG based on Western blot (WB) positivity.

MAG

amyloidosis


Input: Electron microscopy revealed basal laminar and linear deposits beneath the RPE layer, but we did not observe choroidal neovascularization (CNV).

RPE

choroidal neovascularization


Input: To analyze the p42. 3 gene expression in gastric cancer (GC) cell, find the relationship between protein structure and function, establish the regulatory network of p42. 3 protein molecule and then to obtain the optimal regulatory pathway.

p42. 3

gastric cancer


Input: Similarly, while the expression of HDACs1 and 2 were increased in cervical dysplasia and invasive carcinoma, HDAC2 expression showed a clear demarcation of high-intensity staining at the transition region of dysplasia compared to HDAC1.

invasive carcinoma


Input: REN-19 is equivalent to LKB1/STK11, a gene that is defective in Peutz-Jeghers syndrome and cancer.

REN

cancer


Input: The classical hamartoma cases showed a vasculature predominantly composed of CD8 + CD31 + CD34-splenic sinuses, whereas cases of cord capillary hemangioma and myoid angioendothelioma contained many CD8-CD31 + CD34 + cord capillaries, but very little CD8 + vasculature.

capillary hemangioma


Input: Biallelic inactivation of BRCA2 leads to a defect in DNA repair and is associated with a chromosomal instability phenotype.

chromosomal instability


Input: Mechanistically, BRCA1 bound to the TWIST promoter, suppressing its activity and inhibiting EMT in mammary tumor cells.

TWIST

mammary tumor


Input: Our findings suggest that TGF-beta1 plays an important role in ECM production in the early phase of acute pancreatitis, and that MMP-2 is involved in the subsequent healing process.

ECM

acute pancreatitis


Input: Fenofibrate treatment significantly decreased serum RBP4 levels of dyslipidemic patients, which correlated with reduced body weight and increased insulin sensitivity.

insulin sensitivity


Input: We found that mice lacking CRTC1 associate neurobehavioral endophenotypes related to mood disorders.

mood disorders

mood disorders


Input: Taken together, these results indicate activation of the UPR plays an essential role in HIV PI-induced inflammatory cytokine synthesis and release by activating ERK, which increases the cytosolic translocation of HuR and subsequent binding to the 3' UTR of TNF-alpha and IL-6 mRNAs in macrophages.

TNF-alpha

translocation


Input: We also found increased expression of HIF-1 & #945; and LDHA mRNA in MDD patients in a remissive state, whereas the mRNA expression levels of other genes in a remissive state were comparable to those in healthy control subjects.

MDD

MDD


Input: In order to further establish associations of these genes with mood disorders, we evaluated behavioral phenotypes in mice deficient in either Ambp/bikunin, which is necessary for functional ITIH1 and ITIH3 complexes, or in Itih4, the gene encoding the heavy chain Itih4.

bikunin

mood disorders

bikunin

mood disorders


Input: In summary, these data identify an important functional role of c-Jun in the induction of cell cycle arrest and proliferation arrest of myeloid leukemia cells because of the ligation of the cell surface adhesion receptor CD44 by anti-CD44 antibody.

myeloid leukemia


Input: Predictors for PEGV response are baseline IGF1 levels, sex, body weight and previous radiotherapy.

body weight


Input: In comparison to normal individuals with homozygotes GG in MCP-2 SNP, women with GA or AA carried a 2. 01 odds ratio of developing cervical cancer.

cervical cancer


Input: SEPP1 concentrations were positively associated with the risk of EA [hazard ratio (HR) = 3. 95, 95% confidence intervals (CI) = 1. 42-10. 97 comparing the third tertile with the first] and with aneuploidy (HR = 6. 53, 95% CI = 1. 31-32. 58), but not selenoenzyme activity or oxidative stress markers.

aneuploidy


Input: Our recent studies, based on the reported interrelationship between c-Myc and Sirt1 (mammalian orthologue of yeast sir2 [silent information regulator 2]) expression and their role in mitochondrial biogenesis and function, demonstrated a significant downregulation of Sirt1 protein expression and an upregulation of c-Myc following trauma-hemorrhage (T-H).

hemorrhage


Input: smoking and polymorphisms in the genes involved in the metabolism of genotoxic carcinogens (EPHX1, GSTA1, GSTM1, GSTP1, GSTT1, NAT1, NAT2 and NQO1) or DNA repair (APE1, NBS1, XPC, XPD, XRCC1, XRCC3 and XRCC4), could modify the association between telomere length and cancer risk.

smoking


Input: Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer.

sporadic


Input: We evaluated the relationship of demographic and clinicopathologic characteristics to Ki-ras mutation and p53 gene product overexpression in 1, 093 baseline sporadic colorectal adenomas from 926 individuals enrolled in a phase III recurrence prevention trial.

p53 gene

sporadic


Input: The data indicate that p53 induction following LPSE may activate downstream pro-apoptotic genes leading to neurodegeneration.

neurodegeneration


Input: Prevalence of CXCR4 tropism among antiretroviral-treated HIV-1-infected patients with detectable viremia.

viremia


Input: Since the GHRH-GH-IGF-I axis has an important role in growth regulation, the growth retardation seen in experimental models of alcohol abuse may be a consequence at least in part of the suppressive effects of ethanol on this axis.

IGF-I

alcohol abuse

IGF-I

alcohol abuse


Input: Injection of mTNF resulted in clear bone resorption lacunae to the same extent observed after using hTNF in the TNFR2-deficient mice.

bone resorption


Input: In this study, we observed that the activation of the CB1 receptor, in two human mammary carcinoma cell lines, MDA-MB-231 and MCF7, caused the inhibition of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase activity due to a reduction of HMG-CoA reductase transcript levels.

CB1 receptor

human mammary carcinoma


Input: Phosphorylated Y1357 is increased in HER2/neu (v-erb-b2 erythroblastic leukemia viral oncogene homolog 2) mammary tumor epithelia and is required to modulate AIB1/SRC-3 coactivation of estrogen receptor alpha (ERalpha), progesterone receptor B, NF-kappaB, and AP-1-dependent promoters.

mammary tumor


Input: The results indicate that the gene expression of MASH-1, MATH-1, neuroD and NSCL-2 during neural differentiation in P19 cells is transient and the order is similar to that in the mouse embryo nervous system as previously reported.

NSCL

nervous system


Input: Collectively, these findings demonstrate that mutations in DNAJC21 cause a cancer-prone BMF syndrome due to corruption of early nuclear rRNA biogenesis and late cytoplasmic maturation of the 60S subunit.

BMF

BMF


Input: The RAR-beta gene expression defects play an important role in the carcinogenesis of cervical cancer.

RAR-beta

cervical cancer

RAR-beta

cervical cancer


Input: Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliomas and pheochromocytomas attributable to paternally-transmitted mutations.

SDHD

tumorigenesis


Input: Genetic epidemiologic data support a role for TLR4 in sporadic colorectal cancer (CRC) as well, with over-expression favoring more aggressive disease.

sporadic


Input: The aim of the study was to screen for GBA mutations in progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), primary progressive aphasia (PPA) and the behavioural variant of frontotemporal dementia (bvFTD).

CBS

primary progressive aphasia


Input: We also evaluated the association between GSTs and NAT2 and the risk factors for gastric cancer such as alcohol consumption, smoking, H. pylori infection, family history of gastric cancer, and tumor location.

smoking


Input: We have identified a novel missense mutation in the FGFR2 gene that predicts an Ala362Ser substitution shared by all family members affected by Crouzon syndrome and by a " clinically normal "-appearing father.

Crouzon syndrome

Crouzon syndrome


Input: The aim of this study was to investigate the effect of aplasia ras homolog member I (ARHI) on proliferation, apoptosis and the cell cycle in the pancreatic cancer cell line PANC-1.

ARHI

pancreatic cancer


Input: Rare somatic mutation of pro-apoptotic BAX and BAK genes in common human cancers.

BAX

somatic mutation


Input: We report a case of a small round blue cell tumor with characteristics of both Ewing sarcoma and DSRBCT with a t (11; 22) translocation leading to fusion of the EWS and FLI1genes.

EWS

translocation


Input: Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom' s macroglobulinemia and related lymphoid neoplasms.

somatic mutation


Input: An atypical myeloproliferative disorder with t (8; 13) (p11; q12): a third case.

myeloproliferative disorder


Input: Furthermore, the relationship of CAV-1 with Ki67 expression, a marker of proliferative capacity, in lung adenocarcinoma samples is suggestive of its role in disease progression.

CAV

lung adenocarcinoma


Input: The gene encoding ERRalpha (ESRRA) is located on chromosome 11q13, a region showing genetic linkage to body mass index and fat percentage.

ESRRA

body mass index


Input: Four children developed oliguria and hyperkalaemia during and after withdrawal of ACTH.

ACTH

oliguria

ACTH

oliguria


Input: This is the first report demonstrating that CHI3L1 is induced during fungal infection, where it acts as an immunomodulator to promote fungal clearance and to regulate antifungal innate immune responses in the cornea.

fungal infection


Input: Given the proposed roles for Tim1 and Tim3 in type-1 and type-2 responses, we sought to determine whether these molecules were important in regulating antigen-driven lung allergy and inflammation.

inflammation


Input: While markers such as clusterin are expressed in all phenotypic SPEM lineages, distinct patterns of upregulated genes including CFTR are present in murine metaplasia associated with inflammation, indicative of progression of metaplasia towards a more intestinalised metaplastic phenotype.

CFTR

metaplasia


Input: Advanced fibrosis, high HCV viral load, hepatovenous pressure gradient and pretreatment IP-10 > 400 pg/ml predicted NR to antiviral therapy.

fibrosis


Input: The neuroprotective effects of bpv (pic) and PTEN AS-ODNs were significant in the CA1 subfield after transient global ischemia.

ischemia


Input: We retrospectively analyzed data of 280 single copy MYCN stage 2 and 3 neuroblastoma patients with gross residual tumor after initial surgery.

MYCN

residual tumor


Input: Transcriptional profiles of SHH pathway genes in keratocystic odontogenic tumor and ameloblastoma.

SHH

keratocystic odontogenic tumor


Input: Physical association of HDAC1 and HDAC2 with p63 mediates transcriptional repression and tumor maintenance in squamous cell carcinoma.

squamous cell carcinoma

squamous cell carcinoma


Input: Based on this biology, we engineered an ASMase-producing vector consisting of a modified pre-proendothelin-1 promoter, PPE1 (3x), and a hypoxia-inducible dual-binding HIF-2α-Ets-1 enhancer element upstream of the asmase gene, inserted into a replication-deficient adenovirus yielding the vector Ad5H2E-PPE1 (3x)-ASMase.

hypoxia


Input: Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.

Marfan syndrome

Marfan syndrome


Input: De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

Schinzel-Giedion syndrome

Schinzel-Giedion syndrome


Input: Erk-dependent phosphorylation leads to TSC1-TSC2 dissociation and markedly impairs TSC2 ability to inhibit mTOR signaling, cell proliferation, and oncogenic transformation.

dissociation


Input: Although hepatic fibrosis was more severe in post-hepatitis cirrhosis, EMT of BECs was more widespread in hepatolithiasis.

EMT

hepatolithiasis


Input: Intriguingly perforin deficiency does not prevent diabetes in CD8 (+) T-cell receptor transgenic NOD8. 3 mice.

perforin deficiency


Input: Stress ulceration should be associated with increased heat-shock gene (iHSP70) and an inhibition of the trefoil peptide, spasmolytic polypeptide (SP), and mucin (MUC5AC) gene expressions.

shock


Input: To demonstrate the applicability of this approach, we have examined these IGH polymorphisms in families with individuals affected with pemphigus vulgaris (PV), an autoimmune dermatologic disease.

IGH

pemphigus vulgaris


Input: Notably, retrospective analyses of microarray expression data reveal elevated expression of RAD51 and two of its late-acting cofactors, RAD54 and RAD51AP1, in BRCA1-deficient versus sporadic breast tumors.

breast tumors


Input: We recently demonstrated that functional endoglin was expressed at half levels on human umbilical vein endothelial cells (HUVECs) and peripheral blood activated monocytes from HHT1 patients.

endoglin

endoglin


Input: To better understand the molecular mechanisms behind esophageal adenocarcinoma (EAC) tumorigenesis, we used high-density single nucleotide polymorphism arrays to profile chromosomal aberrations at each of the four sequential progression stages, Barrett' s metaplasia (BM), low-grade dysplasia (LGD), high-grade dysplasia (HGD), and EAC, in 101 patients.

HGD

chromosomal aberrations


Input: However, the issue is relevant, given the immunomodulatory effects of DBP and the role of protracted innate immune-related inflammation in response to tissue injury or repeated infection.

DBP

inflammation


Input: SCFAs in concentrations present in cystic fibrosis airways (0. 5-2. 5 mM) affected the release of granulocyte-macrophage colony-stimulating factor, granulocyte colony-stimulating factor and interleukin (IL)-6.

granulocyte colony-stimulating factor

cystic fibrosis


Input: This translocation fuses a putative repressor domain from the TEL DNA-binding protein to nearly all of the AML-1B transcription factor.

DNA-binding protein

translocation


Input: Furthermore, the miR-21 induction by Akt2 during hypoxia depends upon the binding of NF-κB, cAMP responsive element-binding protein (CREB), and CBP/p300 to the miR-21 promoter, in addition to the regional acetylation of histone H3K9, all of which are under the control of Akt2.

hypoxia


Input: Agonism of peroxisome proliferator-activated receptor (PPAR) alpha, a key regulator of lipid metabolism, leads to amelioration of lipid abnormalities in dyslipidemic patients.

PPAR

abnormalities


Input: NSA2 levels were the only variable that showed a significant difference between patients with albuminuria (DN-A) compared with non-albuminuric patients (DN-NA) and diabetic controls (p < 0. 05), this increase being independent of all other variables, including GFR.

GFR

albuminuria


Input: Haplotype 5 was associated with higher SHBG and lower free T. Variation in the HMGCR gene may influence component features of PCOS, including insulin resistance, SHBG, and free T. HMGCR may thus act as a modifier gene in PCOS.

HMGCR

insulin resistance


Input: The interleukin (IL) 4/IL13 pathway is involved in the regulation of IgE production associated with atopic diseases.

atopic


Input: Increased hemorrhage and brain edema that correlated with higher mortality and neurologic deficits were found in MMP-9-knockout mice.

brain edema

brain edema


Input: Combining the genetic marker TNFSF15 with ASCA IgA increased the power of predicting stenosis/perforating phenotype in CD patients with TNFSF15 but not with a NOD2 genetic background.

stenosis


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

depression

depression


Input: The downregulation of ANP and NPRC in retinas of diabetic rats suggests a role for this peptide in experimental diabetic retinopathy.

ANP

diabetic retinopathy


Input: In the hypertensive group, we found enhanced monocyte expression of CD11a (P < 0. 001), reduced expression of CD49d (P < 0. 001) and CD62L (P < 0. 005), greater oxidative stress in resting and phorbol-12-mistrate-13-acetate-stimulated monocytes (P < 0. 001), enhanced adhesion of monocytes to endothelial cells (P < 0. 001), greater expression of CD36 on monocyte-derived macrophages (P < 0. 001), and enhanced production of reactive oxygen species by resting and phorbol-12-mistrate-13-acetate-stimulated macrophages (P < 0. 001).

adhesion


Input: Neutropenia had been observed since 6 months of age, but the diagnosis of GSD Ib was established only at 18 months of age two mutations (c. 354_355insC (p. W118fsX12) and c. 736T & gt; C (p. W246R)) were detected on his SLC37A4 gene.

GSD Ib

GSD Ib


Input: Mechanistically, cGMP in airway cells accumulated after sildenafil treatment because of interfering phosphodiesterase Type 5, and subsequently cGMP activated HIF-mediated hypoxic signaling by stimulating the phosphoinositide 3-kinase (PI3K)-v-akt murine thymoma viral oncogene homolog 1 (AKT)-mammalian target of rapamycin (mTOR) pathway.

mammalian target of rapamycin

hypoxic


Input: NOBOX (newborn ovary homeobox gene) is an oocyte-specific homeobox gene that plays a critical role in early folliculogenesis and represents a candidate gene for nonsyndromic ovarian failure.

NOBOX

ovarian failure


Input: The full-length regucalcin protein was found to be highly expressed in normal human liver and kidney tissues; its expression was suppressed, however, in the liver and kidney tumor tissues.

regucalcin

kidney tumor


Input: In the PhIP-induced colon tumors obtained after 1 year, Nox1, Nox4, NF & #954; B-p50 and NF & #954; B-p65 were all highly overexpressed compared with their levels in adjacent normal-looking colonic mucosa.

colon tumors

colon tumors


Input: Conclusively, we show for the first time that GCLC may serve a dual role, as a surrogate marker for cellular redox state as well as malignant potential of melanoma cells.

GCLC

melanoma


Input: In the present study, the ASPA gene was analysed in 22 unrelated non-Jewish patients with Canavan disease, and 24 different mutations were found.

ASPA

Canavan disease

ASPA

Canavan disease


Input: From a previously ranked microarray of hypoxia-inducible genes related to hepatocellular carcinoma, we focused on a histone H3 lysine 9 demethylase, known as Jumonji domain containing 1A.

Jumonji

hypoxia


Input: Obese subjects with elevated TNF-a levels, and carriers of polymorphisms in or near TNFA are particularly susceptible to the hazards of smoking, results which may have implications for cardiovascular preventive measures.

TNFA

smoking


Input: Numerous recent studies have recognized the importance of a cutaneous CCS variant that can mimic a broad spectrum of entities, including spindle cell melanoma, spindle cell squamous carcinoma, cutaneous leiomyosarcoma and atypical fibroxanthoma.

CCS

atypical fibroxanthoma


Input: Absent immuno-expression of LDH-B protein (& lt; 10% cells stained), was seen in 23/26 (88%) breast cancer cases, and in 4/8 cases of adjacent ductal carcinoma in situ lesions.

LDH-B

breast cancer

LDH-B

breast cancer


Input: However, after eradication a chronic low-grade inflammation was seen with reduced Th1, prolonged Th2 and disappearance of the T-regulatory response.

inflammation


Input: To address this, we employed H1299 lung cancer cells engineered for tetracycline-inducible overexpression of the post-transcriptional regulator iron regulatory protein 1 (IRP1).

lung cancer


Input: We have evaluated the Xpert MTB/RIF assay for the diagnosis of Mycobacterium tuberculosis bacteremia and investigated its impact on clinical outcomes.

RIF

bacteremia


Input: Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

familial HDL deficiency

familial HDL deficiency


Input: CSF1 and IL-34 strongly reduced excitotoxin-induced neuronal cell loss and gliosis in wild-type mice when administered systemically before or up to 6 h after injury.

gliosis


Input: This gene encodes an RNA-binding protein that has been reported to be significantly dysregulated in individuals with schizophrenia.

RNA-binding protein

schizophrenia


Input: By administration of anti-CD3 Abs, we demonstrated that this early response was linked to the marked T lymphocyte lung infiltration and to the overproduction of the proinflammatory mediators such as TNF-alpha, IFN-gamma, and NO in IL-4 (-/-) mice.

IFN

lung infiltration


Input: A novel promoter polymorphism in the human gene GNAS affects binding of transcription factor upstream stimulatory factor 1, Galphas protein expression and body weight regulation.

GNAS

body weight


Input: Two continuous lines, BL-MaTU/A1 and BL-MaTU/s6, were established from C57Bl/10 mammary adenocarcinomas induced by DMBA-prolactin-estradiol treatment.

prolactin

adenocarcinomas

prolactin

adenocarcinomas


Input: Little is known regarding the association of VKORC1 polymorphisms with coronary artery calcification (CAC) and the role of CAC in the association with coronary artery disease (CAD).

CAC

coronary artery calcification


Input: These findings provide the first genetic evidence for the role of BLVRA on the susceptibility to human essential hypertension and blood pressure.

BLVRA

blood pressure


Input: Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.

brachydactyly type C

brachydactyly type C


Input: MARCKS overexpression induced a higher percentage of cells in the G0-G1 phase of the cell cycle upon serum starvation, as well as the inhibition of colony formation in soft agar.

MARCKS

starvation


Input: The transcription of genes for fucosyltransferase VII (FUT7), sialyltransferase ST3Gal-I (ST3O), and UDP-galactose transporter-1 (UGT1), which are all known to be involved in the synthesis of the carbohydrate ligands for E-selectin, was significantly induced in cancer cells by hypoxic culture.

hypoxic


Input: Accumulation of mutant ATN1 that carries an expanded polyQ tract seems to be the primary cause of DRPLA neurodegeneration, but it is still unclear how the accumulation of ATN1 leads to neu-rodegeneration.

neurodegeneration


Input: We observed that male carriers of the L-FABP A94 allele had significantly higher body weight (P = 0. 012), higher body mass index (BMI) (P = 0. 014), and higher plasma triacylglycerol levels (TAG) (P = 0. 033) and lower ratios of high-density lipoprotein cholesterol (HDL-C) to total cholesterol (TC) (P = 0. 008) than T94 homozygotes.

L-FABP

body weight


Input: The fact that CX (3) CL1-CX (3) CR1 interactions confer an essential survival signal, whose absence leads to increased death of monocytes and/or foam cells, might provide a mechanistic explanation for the role of the CX (3) C chemokine family in atherogenesis.

foam cells


Input: A search was made for mutations at the A9 tract in exon 17, an allelic loss at the EPHB2 gene locus, and promoter hypermethylation of the EPHB2 gene in 81 sporadic gastric cancers in order to determine if genetic or epigenetic alterations of the EPHB2 gene are involved in the development and/or progression of gastric cancer.

EPHB2 gene

sporadic


Input: Discontinuation of therapy resulted in a rapid increase of sCD27 plasma levels associated with viraemia rebound and drop in CD4 + T cell count.

viraemia


Input: Serum IL-4 levels of heterozygote and mutant homozygote carriers in the mild, moderate, and severe groups were higher than wild homozygote carriers in those three groups and the control group (all P < 0. 05).

mild


Input: Immunohistochemical analysis of aberrant signaling in the PI3K/AKT/mTOR pathway in ameloblastomas may represent a valuable tool for elucidating pathogenesis, aggressiveness and selecting optimal therapeutics.

aggressiveness


Input: To assess a potential association between genetic variants in the KATNB1 gene and infertile men with OAT, we performed direct sequencing of genomic DNA samples from 100 OAT infertile and 100 proven fertile men.

OAT

infertile


Input: Whole-exome sequencing of two children from a consanguineous family with pyridoxine-dependent epilepsy revealed a homozygous nonsense mutation in proline synthetase co-transcribed homolog (bacterial), PROSC, which encodes a PLP-binding protein of hitherto unknown function.

PROSC

pyridoxine-dependent epilepsy

PROSC

pyridoxine-dependent epilepsy


Input: Additionally, we found that PDHA1 and the PDC activator pyruvate dehydrogenase phosphatase 1 (PDP1) are frequently amplified and overexpressed at both the gene and protein levels in prostate tumors.

prostate tumors

prostate tumors


Input: Herein we describe the effects of morphine on gene expression of the alpha-and beta-chemokines and their receptors by the astrocytoma cell line U87 and by primary normal human astrocyte (NHA) cultures.

astrocytoma


Input: In this study, we show that the tumor suppressor Tid1 forms a complex with p53 under hypoxic conditions that directs p53 translocation to the mitochondria and the subsequent initiation of the mitochondrial apoptosis pathway.

hypoxic


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;).

AHR

left ventricular hypertrophy

AHR

left ventricular hypertrophy


Input: Reverse transcriptase (RT)-PCR with primers specific for surfactant protein A (SP-A), B (SP-B), C (SP-C), and D (SP-D) genes was applied to detect metastatic non-small cell lung carcinomas.

SP-B

carcinomas


Input: Recent studies demonstrate that the neuropeptide VGF (nonacronymic) is regulated in the hippocampus by antidepressant therapies and animal models of depression and that acute VGF treatment has antidepressant-like activity in animal paradigms.

VGF

depression

VGF

depression


Input: To evaluate this possibility, we examined quantitative and qualitative aspects of NF1 gene expression in six sporadic pilocytic astrocytomas.

NF1 gene

sporadic


Input: ACTH revisited: effective treatment for acute crystal induced synovitis in patients with multiple medical problems.

ACTH

synovitis

ACTH

synovitis


Input: Analysis of 84 genes, which are associated with oxidative stress and antioxidant defense, showed that 7 genes were significantly and differentially regulated, namely BCL2/adenovirus E1B 19kD-interacting protein 3 (BNIP3), 24-dehydrocholesterol reduc-tase (DHCR24), dual specificity phosphatase 1 (DUSP1), forkhead box M1 (FOXM1), nudix-type motif 1 (NUDT1), prostaglandin-endoperoxide synthase 2 (PTGS2), and scavenger receptor class A, member 3 (SCARA3).

adenovirus


Input: We found that a single nucleotide polymorphism in the CAMK4 promoter was significantly associated with cocaine addiction, whereas variations in the CREB promoter regions did not correlate with drug abuse.

drug abuse


Input: SSCV analysis proved an effective and sensitive method for the detection of menin mutations providing a reliable genetic screening approach supporting genetic counseling and clinical management of MEN1 family members.

menin

menin


Input: Furthermore, recombinant GPNMB also decreased infarction volume.

GPNMB

infarction


Input: Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria.

xanthine dehydrogenase

classical xanthinuria

xanthine dehydrogenase

classical xanthinuria


Input: We have carried out a study on BRCA1 and BRCA2 along with p53 gene mutations in both sporadic as well as familial breast cancer patients from India where breast cancer is fast emerging as a major cancer among premenopausal urban women.

sporadic


Input: Increased IGF-I levels correlated with increased growth, tumor extent, and aggressiveness.

IGF-I

aggressiveness


Input: Thus, combined GDNF-Sinemet treatment could be of therapeutic value in treating parkinsonism, by producing a greater functional response and by mitigating adverse responses to Sinemet treatment.

GDNF

parkinsonism

GDNF

parkinsonism


Input: We found that the PGC-1alpha and/or PGC-1beta expression improved mitochondrial respiration in cells harboring a complex III or IV deficiency as well as in transmitochondrial cybrids harboring mitochondrial encephalomyopathy lactic acidosis and stroke A3243G tRNA ((Leu) UUR) gene mutation.

PGC

stroke


Input: The frequency of complete AZF deletions was similar in idiopathic (13. 3%) and cryptorchid men (11. 6%), but partial DAZ deletions were found only in infertile subjects without cryptorchidism (7. 1%).

DAZ

infertile


Input: The LPA-induced FLS motility and cytokine production are suppressed by LPA (1/3) receptor antagonists diacylglycerol pyrophosphate and (S)-phosphoric acid mono-(2-octadec-9-enoylamino-3-[4-(pyridine-2-ylmethoxy)-phenyl]-propyl) ester (VPC32183).

LPA

mono


Input: Low PTPN6 promoter methylation correlated to protein expression, and the protein expression was increased upon demethylation in glioma-derived cells.

glioma


Input: Haploinsufficiency for human EYA1, a homologue of the Drosophila melanogaster gene eyes absent (eya), results in the dominantly inherited disorders branchio-oto-renal (BOR) syndrome and branchio-oto (BO) syndrome, which are characterized by craniofacial abnormalities and hearing loss with (BOR) or without (BO) kidney defects.

craniofacial abnormalities

craniofacial abnormalities


Input: We identified a haplotype set (rs591758-rs668514-rs647126-rs1800006, spanning the UCP2-UCP3 intergenic and UCP3 regions) as significantly associated with greater type 2 diabetes risk (nominal P = 0. 0011, permutation P = 0. 046) in Caucasian women, especially among overweight Caucasians (BMI > 25 kg/m (2)) (nominal P = 0. 0006, permutation P = 0. 032).

overweight


Input: In three cases, transmission was to an only son, but in the fourth case a Y chromosome, shown to be deleted for all copies of DAZ, was transmitted from a father to his four infertile sons.

DAZ

infertile


Input: To our knowledge, this is the first demonstration of (i) recombinant IL-4 reducing glomerular inflammation in vivo and (ii) a treatment that increases IL-1RTII expression in association with reduction of tissue injury in vivo.

inflammation


Input: Tumor necrosis factors (TNFs) and heat shock protein 70 (hsp70) are determining factors in immunologic mechanisms to tumor cells.

shock


Input: Expression of ENG, ALK-1 and phosphorylated SMAD1/5, but not ALK-5 or phosphorylated SMAD3, was significantly increased in hypoxic endothelial cells in vivo and in vitro.

hypoxic


Input: KCNJ11 should be considered as the etiology of diabetes even beyond the neonatal period if present in combination with negative autoantibody testing and even mild neurological symptoms.

mild


Input: The early development of a cross-linked matrix around ductal breast carcinoma suggests a possible bost defense mechanism, whereas the synchronous or late stromal reaction lacking lysyl oxidase favors tumor dispersion.

lysyl oxidase

ductal breast carcinoma


Input: Since several pathophysiological phenomena are common for both ischemia and seizures, we have explored the effect of acute and chronic administration of the adenosine A3 receptor selective agonist IB-MECA (N6-(3-iodobenzyl) adenosine-5'-N-methylcarboxamide) prior to seizures induced by N-methyl-D-aspartate (NMDA), pentamethylenetetrazole, or electric shock.

adenosine A3 receptor

ischemia

adenosine A3 receptor

ischemia


Input: To assess whether the mRNA levels of adiponectin and its receptors (ADIPOR1 and ADIPOR2) might show daily circadian rhythms in visceral and sc fat explants obtained from morbid obese women, visceral and sc abdominal AT biopsies (n = 6) were obtained from morbidly obese women (body mass index > or = 40 kg/m (2)).

circadian rhythms


Input: The MPZ Thr124Met mutation is characterised by a late onset, pupillary abnormality, deafness, normal or moderate decreased motor nerve conduction velocity, and axonal damage in sural nerve biopsy.

MPZ

deafness


Input: There is confusion in the literature concerning disorders caused by EBP (emopamil-binding protein) mutations in males.

emopamil-binding protein

confusion


Input: Compared with anti-AQP4 antibody-negative CMS patients, anti-AQP4 antibody-positive MS patients showed significantly higher frequencies of severe optic neuritis, acute transverse myelitis and LESCLs while most conditions were also common to anti-AQP4 antibody-negative OSMS patients.

CMS

optic neuritis


Input: In conclusion, our results suggest that the NAT2 slow acetylator, in particular, the NAT2 slow acetylator combined with smoking, are associated with an increased bladder cancer risk.

smoking


Input: Neutrophil CD18 silencing resulted in neutrophilia, splenomegaly, and significant defects in neutrophil trafficking with the degree of alterations correlating with the extent of CD18 silencing.

neutrophilia


Input: HRG treatment induced a profound alteration in the cell morphology in which cells displayed neuron-like membrane extensions that contained Rab3A-coated, vesicle-like structures.

HRG

vesicle


Input: We have found significantly elevated c-MYC gene expression in cholesteatoma compared to atheroma and to normal skin samples.

MYC gene

atheroma


Input: Inhibition of Plk1 by an adenovirus encoding for a short hairpin RNA against Plk1 or by the small-molecule inhibitor BI 2536 reduced the viability of HCC cell lines and inhibited HCC xenograft progression in nude mice.

HCC

adenovirus


Input: B-cell CCL/lymphoma 2 (BCL2)-like 1 (BCL2L1) exhibited significant upregulation, while BCL2 showed partial derepression in PDAM-silenced cells after cisplatin treatment, suggesting that alteration of anti-apoptotic genes contributed in part to cisplatin resistance.

PDAM

lymphoma


Input: This work shows miR-297 as a novel and physiologic regulator of cancer cell survival, largely through targeting of DGK-α, and also indicates that hypoxia ameliorates miR-297 toxicity to cancer cells.

DGK-α

hypoxia


Input: De novo mutations in MLL cause Wiedemann-Steiner syndrome.

MLL

Wiedemann-Steiner syndrome

MLL

Wiedemann-Steiner syndrome


Input: Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

renal-coloboma syndrome

renal-coloboma syndrome


Input: The higher serum levels of IL-6 in children with idiopathic osteoporosis/osteopenia and the decrease in IL-6sR after treatment reveal an involvement of IL-6 in the etiopathogenesis of these disturbances.

idiopathic osteoporosis


Input: Functional analysis of the mutations in MYCN, PTPN14 and LATS1 suggested their potential relevance in BCC tumorigenesis.

BCC

BCC


Input: Recent genome-wide association studies (GWAS) in Asian Indians reported strong associations of variants near melanocortin-4 receptor (MC4R) and MLX interacting protein-like (MLXIPL) genes with insulin resistance and several obesity-related quantitative traits (QTs).

MLXIPL

insulin resistance


Input: Phosphatase and tensin homologue located on chromosome 10 deletion was common in certain histological subtypes and especially homozygous deletion was associated with high-grade malignancy, lymph node metastases and unfavourable long-term prognosis (P < 0. 001).

tensin

malignancy


Input: Agreement assessed by Deming regression was poor [Amplicor = 1. 197 (HC2)-0. 961; R (2) = 0. 799, standard error of the estimate (SEE) = 0. 710, n = 94].

regression


Input: GAD had modest genetic correlations with caffeine tolerance, 0. 24, and caffeine withdrawal, 0. 35.

GAD

caffeine withdrawal


Input: The Kv1. 3 blocker PAP-1 in contrast did not reduce intima hyperplasia despite drastically reducing plasma IFN-γ levels and inhibiting lymphocyte infiltration.

IFN

hyperplasia


Input: The phenotypic similarity of the affecteds and the functional experiments in flies and mice indicate that IQSEC1 variants are the cause of a recessive disease with intellectual disability, developmental delay, and short stature, and that axonal guidance and dendritic projection defects as well as dendritic spine dysgenesis may underlie disease pathogenesis.

developmental delay

developmental delay


Input: Apolipoprotein E receptors in the nervous system.

Apolipoprotein E

nervous system


Input: Assays included cell-survival curves, studies of potentially lethal damage repair, measurement of chromosomal aberrations and of G1 arrest, and Western blot analysis of lysates of irradiated cells to determine the phosphorylation of the product of the human Mdm2 gene (HDM2).

chromosomal aberrations


Input: Using RNA profiles, we were able to distinguish BRCA1 tumors from sporadic tumors among basal-like tumors with 83% accuracy and BRCA2 from sporadic tumors among luminal B tumors with 89% accuracy.

sporadic


Input: We found that the frequency of loss of heterozygosity was similar at some chromosomal regions in the BRCA2 999del5 and sporadic tumors but significantly different at others.

sporadic


Input: In 56 specimens [CCH, n = 1; MTC with CCH, n = 26; MTC, n = 20; lymph-node metastasis (LNM), n = 9] from 46 patients [multiple endocrine neoplasia type 2a (MEN2a), n = 24; MEN2b, n = 2; familiar MTC (FMTC), n = 4; sporadic MTC, n-16] and 3 cases of non-neoplastic CCH, proliferation activity (MIB1), the rate of apoptosis [dUTP nick end labelling (TUNEL)] and expression of p53, bcl-2, bcl-x and bax were investigated and compared with clinical data.

sporadic


Input: TGNp230 is an extensively coiled-coil protein with flexible amino-and carboxyl-terminal ends, associates with non-clathrin-coated vesicles arising from the TGN, and is implicated in vesicle biogenesis.

TGN

vesicle


Input: Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome.

Filippi syndrome

Filippi syndrome


Input: The TP53 gene is frequently mutated in sporadic and familial human cancers.

TP53 gene

sporadic


Input: Using human primary bone marrow stromal cells (BMSCs), lymphoblasts, and skin fibroblasts, we show that SBDS stabilized the mitotic spindle to prevent genomic instability.

SBDS

genomic instability


Input: produced catalepsy in WT mice, which precluded determination of antiallodynic efficacy but produced sustained CB2-mediated suppression of paclitaxel-induced allodynia in CB1KO mice; these antiallodynic effects were blocked by the CB2 antagonist 6-iodopravadoline (AM630).

catalepsy


Input: IFN-& #955; 3 rather than IFN-& #955; 4 likely mediates IFNL3-IFNL4 haplotype-dependent hepatic inflammation and fibrosis.

inflammation

inflammation


Input: After stratification for birth weight, both HHEX-IDE and CDKAL1 risk alleles were associated with reduced BMI-SDS (0. 45 SDS, P = 0. 0002; 0. 52 SDS, P = 0. 0001) and weight-SDS (0. 22 SDS, P = 0. 04; 0. 56 SDS, P = 0. 0002) in children born large for gestational age (> 90th percentile) but not children born small or appropriate for gestational age.

IDE

large for gestational age


Input: A human hepatoblastoma cell line (C3A, a subclone of HepG2/C3 that is currently being used as a surrogate liver) and human lung adenocarcinoma cells (A549) were stimulated with interleukin-1 beta (IL-1 beta), tumor necrosis factor-alpha (TNF alpha), interferon-gamma (IFN gamma), or IL-6 to determine any differences in cell type responsiveness to individual cytokines for ICAM-1 upregulation.

lung adenocarcinoma


Input: During angiotensin II (AII) infusion studies (n = 6 mild and 10 severe), performed during recumbency, aldosterone levels were lower in the mild group both basally (404 +/-144 vs. 843 +/-498 pmol/L; P < 0. 05) and after 60 min AII (2 ng/kg x min; 261 +/-130 vs. 520 +/-330 pmol/L; P < 0. 05).

AII

mild


Input: The hamster buccal pouch (HBP) carcinogenesis model is one of the most well characterized animal systems for analyzing the development of oral squamous cell carcinoma (OSCC), a common malignancy worldwide.

HBP

carcinogenesis


Input: Three missense mutations were identified, resulting in the following delta chain hemoglobin (Hb) variants: Hb A (2)-Acacias [delta4 (ACT > AGT), Thr--> Ser, HBD c. 14C > G], Hb A (2)-Toronto [delta74 (GGC > GAC), Gly--> Asp, HBD c. 224G > A], and Hb A (2)-Calgary [delta99 (GAT > GGT), Asp--> Gly, HBD c. 299A > G].

ACT

hemoglobin


Input: However, the C-allele carrier group had significantly higher mean body weight, body mass index, leptin levels, and higher indices of insulin resistance compared with women with GNAS1 TT-genotype.

body mass index


Input: Paraffin blocks from 16 cases of medullary carcinoma and 33 cases of poorly differentiated colonic carcinoma were retrieved, and tissue microarrays were constructed and stained with an immunohistochemical panel including CDX2, CK7, CK20, p53, intestinal trefoil factor 3, chromogranin, synaptophysin, MLH-1, MUC-1, MUC-2, and calretinin.

medullary carcinoma


Input: Mortality in head and neck squamous cell carcinoma (HNSCC) is high due to emergence of therapy resistance which results in local and regional recurrences that may have their origin in resistant cancer stem cells (CSCs) or cells with an epithelial-mesenchymal transition (EMT) phenotype.

EMT

resistant cancer


Input: Phenotypes varied from asymptomatic memory B-cell deficiency (n = 3) to EBV-associated hemophagocytosis and lymphoproliferative disorder (LPD; n = 3) and malignant lymphoma (n = 2; + 1 after LPD).

LPD

hemophagocytosis


Input: The functional significance of Int6 and the effect of Int6/EIF3E gene silencing on human brain GBM has not yet been described and its role on the HIFs is unknown in glioma cells.

EIF3E gene

glioma


Input: SLC25A13 (citrin or aspartate-glutamate carrier 2) is located in the mitochondrial membrane in the liver and its genetic deficiency causes adult-onset type II citrullinemia (CTLN2).

glutamate carrier 2

citrullinemia


Input: We study how the kinetics of TSG inactivation depends on the population size of cells and the mutation rates for the first and second hit.

TSG

hit


Input: Included subjects had epilepsy, and MRI confirmed bilateral PVNH.

MRI

epilepsy


Input: These data suggest that the SK1-S1P axis could be an attractive target for the development of treatments to ameliorate adipose inflammation and insulin resistance associated with obesity and type 2 diabetes.

insulin resistance


Input: Whereas our analysis of 30 sporadic ovarian carcinomas showed a statistically significant reduction of BRCA1 mRNA expression (P = 0. 001), it also showed, in contrast, overexpression of BRCA2 mRNA (P = 0. 002) in tumor compared with nontumor.

sporadic


Input: RER was observed in an order of hyperplasic endometrium (6/10 markers), ovarian carcinoma (5/10 markers), endometrial carcinomas (4/9 and 3/10), DFSP (2/9 markers), and cavernous hemangioma (2/10 markers).

RER

ovarian carcinoma


Input: Treatment with growth hormone and dexamethasone in mice transgenic for human islet amyloid polypeptide causes islet amyloidosis and beta-cell dysfunction.

islet amyloid polypeptide

beta-cell dysfunction


Input: Twenty-eight samples of squamous cell carcinoma were evaluated by fluorescence in situ hybridization (FISH) using the probes RP11-546J1 (2q24) and RP11-21P18 (internal control).

FISH

squamous cell carcinoma


Input: Efforts have been taken in the past years to come to a better understanding of the molecular mechanisms of MMR, including those underlying MMR-related tumorigenesis, those determining the substrate-specificity of MMR-dependent damage recognition, and those linking damage recognition to cell death responses.

MMR

tumorigenesis


Input: Cytoplasmic immunoreactivity of IMP3 was significantly higher in LNM (93%) than in primary colon cancer (65%) or normal mucosa (3. 9%).

colon cancer


Input: Thus, KS-WNK1 is a negative regulator of NCC and NKCC2 in vivo and plays an important role in the control of Na (+) homeostasis and blood pressure.

blood pressure


Input: Loss of heterozygosity of BRCA1, TP53 and TCRD markers analysed in sporadic endometrial cancer.

sporadic


Input: OBJECTIVE: To investigate the relationship between single nucleotide polymorphisms (SNPs) of the genes encoding the estrogen receptor 1 (ESR1) and the receptor activator of nuclear factor kappa B ligand (RANKL) and bone mineral density (BMD) in postmenopausal Taiwanese.

RANKL

bone mineral density


Input: To assess the incidence of MLH1 (the human MutL homologue) and MSH2 (the human MutS homologue) protein expression in Turkish patients with sporadic colorectal cancers and to compare their survival and clinicopathological features.

sporadic


Input: They also imply that in contrast to sporadic colorectal carcinoma, ulcerative colitis-associated neoplastic progression may involve p53 inactivation at relatively early, noninvasive stages.

sporadic


Input: Increased TET1 and decreased APOBEC3A and APOBEC3C found in this study highlight the possible role of altered DNA demethylation mechanisms in the pathophysiology of psychosis.

psychosis

psychosis


Input: Sequencing of CHMP2B in 433 ALS cases from the North of England identified 4 cases carrying 3 missense mutations, including one novel mutation, p. Thr104Asn, none of which were present in 500 neurologically normal controls.

ALS

ALS


Input: Laboratory data showed hypocalcemia, low urine calcium, hypophosphatemia, high serum alkaline phosphatase, elevated PTH, and low serum 1, 25-dihydroxyvitamin D (3).

PTH

alkaline phosphatase, elevated


Input: Association of intermittent hydrarthrosis with MEFV gene mutations.

MEFV

intermittent hydrarthrosis

MEFV

intermittent hydrarthrosis


Input: We report a patient with Allan-Herndon-Dudley syndrome characterized by developmental delay, hypotonia, and delayed myelination caused by a novel SLC16A2 mutation (p. L291R).

Allan-Herndon-Dudley syndrome

Allan-Herndon-Dudley syndrome


Input: We demonstrate that two flavin mono-oxygenase family members, FMO1 and FMO3, oxidize trimethylamine (TMA), derived from gut flora metabolism of choline, to TMAO.

mono


Input: Factor VII-activating protease (FSAP) is involved in haemostasis and inflammation.

FSAP

inflammation


Input: As a first step we estimate the ability of HRM for detection mutations in a set of 21 heterozygous samples harboring 8 different known BRCA1/BRCA2 variations, all samples had been preliminarily investigated by direct sequencing, and then we performed a blinded analysis by HRM in a set of 68 further sporadic samples of unknown genotype.

sporadic


Input: This study explored the role of p53, p16, bcl-2, ki-67, c-myc, Rb and EGFR, by using Immunohistochemistry assay, in 45 SBT and 39 NSBT patients in comparison with 16 schistosomal chronic cystitis (SC), 28 non-schistosomal chronic cystitis (NSC), and 20 normal control (CTL) subjects.

chronic cystitis


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.

GHR

smoking


Input: When used alone or in combination with LXY-LS-DOX, M-RAPA could greatly inhibit the expression of HIF-1α protein, which is always highly expressed in malignant cancers and involved in tumor angiogenesis, proliferation, therapeutic resistance and poor prognosis.

RAPA

cancers


Input: Using data from the Stroke Prevention in Young Women study, a population-based case-control study including 297 women aged 15 to 49 years with ischemic stroke and 422 women without stroke, we evaluated whether polymorphisms in genes regulating endothelial function, including endothelin-1 (EDN), endothelin receptor type B (EDNRB), and nitric oxide synthase-3 (NOS3), confer susceptibility to migraine and stroke.

stroke


Input: Danon disease is a rare X-linked lysosomal storage disease characterized by hypertrophic cardiomyopathy, myopathy and mental retardation, and is due to a primary defect in lysosome-associated membrane protein-2 (LAMP 2).

LAMP

lysosomal storage disease


Input: The genome-wide perspective identified discrete sets of genes that discriminated between BRCA, BRCA2, and sporadic breast tumors.

sporadic


Input: Angiogenic cytokines, including IL-6, IL-8, and vascular endothelial growth factor, increased in plasma and ascites of patients with ovarian hyperstimulation syndrome.

ascites


Input: The aim of this study was to evaluate activity and gene expression of AT LPL and HSL at fasting and 6 h after meal in two insulin-resistant groups-obese with Type 2 diabetes and obese without diabetes-and in non-diabetic normal-weight controls.

HSL

weight


Input: Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene.

Fragile X mental retardation syndrome

Fragile X mental retardation syndrome


Input: We found reduced mRNA expression of REST and increased mRNA expression of CRH, adenylate cyclase 5, and the tumor necrosis factor superfamily, member 12-13 in patients with major depressive disorder in a current depressive state, but not in a remissive state.

adenylate cyclase 5

depressive state

adenylate cyclase 5

depressive state


Input: The detailed knowledge of gene content in C3CER1 is a prerequisite for functional analysis of these genes and understanding of their possible role in tumorigenesis.

tumorigenesis


Input: With the exception of HLA class I HC, TAP2 and ERp57 not detectable in about 0. 5% of tumor lesions, all other APM components were not detected in at least 21% of lesions analyzed.

tumor


Input: The plasma BDNF level was robustly correlated with aggressiveness, implying that the plasma BDNF level might be useful as a behavioral state marker in patients with AD or A-MCI.

BDNF

aggressiveness


Input: In vivo toxicity studies demonstrated no effect of EGTA, C10, or C12 on weight gain, lung edema, or bronchoalveolar lavage fluid (BALF) albumin.

lung edema


Input: We identified strong associations to individual disorders, such as growth hormone releasing hormone (GHRH) with anxiety disorders, prolactin regulatory element (PREB) with eating disorders, ionotropic kainate glutamate receptor 5 (GRIK5) with bipolar disorder and several SNPs associated to several disorders, that may represent individual and related disease susceptibility factors.

bipolar disorder

bipolar disorder


Input: A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.

myophosphorylase

McArdle disease

myophosphorylase

McArdle disease


Input: To test this hypothesis, we investigated the interaction between tagging polymorphisms in the UCP2 gene (rs2306819, rs599277 and rs659366), alcohol intake and obesity traits such as BMI and waist circumference (WC) on alanine aminotransferase (ALT) and gamma glutamyl transferase (GGT) in a large meta-analysis of data sets from three populations (n = 20 242).

GGT

alcohol intake


Input: SnoN overexpression is predictive of poor survival in patients with esophageal squamous cell carcinoma.

SnoN

esophageal squamous cell carcinoma


Input: We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry.

ASD

ASD


Input: Taken together, the present data suggested that CD41 and CD45 expression marked the onset of HB neovascularisation and the stepwise development of the angioformative period.

neovascularisation


Input: rs761142 in GCLC was found to be associated with reduced GCLC mRNA expression and with SMX-induced hypersensitivity in HIV/AIDS patients.

GCLC

hypersensitivity


Input: We describe 11-and 4-year-old male patients presenting with mild Dravet syndrome with a truncating mutation of SCN1A.

mild


Input: Because phosphatidylinositol 3'-kinase (PI3-K) is essential for Bcr/Abl leukemogenesis, we evaluated the role of mouse PDGF-beta-receptor binding sites for PI3-K (Y708, Y719) and for phospholipase C-gamma (Y977, Y989) in PDGF-mediated Bcr kinase activation.

leukemogenesis


Input: Our findings enrich the evidence of molecular genetics that the mutations of RUNX2 gene are responsible for CCD.

CCD

CCD


Input: Furthermore, a candidate genetic locus that associates with baseline depressive-like behavior contains a gene that encodes for cellular proliferation/adhesion molecule (Cadm1), supporting a genetic basis for the role of neuro/gliogenesis in depression.

depression

depression


Input: Because hypoxia is associated with fibrosis in several profibrogenic conditions, we investigated whether CTGF expression in SSc fibroblasts is regulated by hypoxia.

CTGF

hypoxia


Input: The Apolipoprotein A5 (APO A5)-1131T/C, fibrinogen β (FgB)-455G/A,-148C/T, and cholesteryl ester transfer protein (CETP) TaqIB gene polymorphisms have been indicated to be associated with the coronary artery disease (CAD) risk, but the individual study results are still inconsistent.

Apolipoprotein A5

fibrinogen


Input: Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.

multiple endocrine neoplasia type 1

multiple endocrine neoplasia type 1


Input: Our data suggest that the lupus-associated variant in the MECP2/IRAK1 locus has the potential to affect all 3 epigenetic mechanisms: DNA methylation, microRNA expression, and histone modification.

lupus

lupus


Input: We found that the enrichment of a rare chromosome 22q11. 22 deletion in a recently expanded Northern Finnish sub-isolate enabled the detection of association between TOP3B and both schizophrenia and cognitive impairment.

schizophrenia

schizophrenia


Input: Array comparative genome hybridization showed that chromosomal aberrations in LSL-MYCN; Dbh-iCre tumors were syntenic to those observed in human neuroblastomas.

MYCN

chromosomal aberrations

MYCN

chromosomal aberrations


Input: Thus, coagulation factor I (fibrinogen) and FVIII were preferentially consumed.

FVIII

fibrinogen


Input: NY-ESO-1 was the only CTA demonstrated and seen in 12% of meningioma tissue specimens.

CTA

meningioma


Input: Although most ACT are of sporadic origin, they may also be part of syndromic and/or hereditary disorders.

ACT

sporadic


Input: The percentage of drinkers, alcohol consumption, AST, ALT, and gamma-GTP were higher in group ADH2 * 1/1 than in group ADH2 * 1/2 or ADH2 * 2/2 (all P < 0. 05).

AST

alcohol consumption


Input: In order to explore the function of aortic H-FABP, we examined whether a quantitative change in aortic H-FABP occurred in diabetes mellitus, since this pathological state has been shown to cause abnormalities in fatty acid metabolism.

H-FABP

abnormalities


Input: Cell-based studies revealed that DAPK mediates several types of cell death, including apoptosis, autophagic death and necrosis, depending on death stimuli and cell context.

DAPK

necrosis


Input: Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.

Peters' anomaly

Peters' anomaly


Input: Therefore, we studied the regulation of (18) F-FDG uptake by the human follicular thyroid carcinoma cell line ML-1 and the as-yet-unknown oncogene expression of that cell line.

follicular thyroid carcinoma


Input: Thalidomide has been described as an inhibitor of both angiogenesis (which may account for its teratogenic effects on limb bud formation) and tumor necrosis factor-alpha (TNF-alpha) production.

TNF-alpha

teratogenic effects


Input: or ventricular fibrillation [VF]), lower left ventricle ejection fraction, higher left ventricle mass index, higher end-diastolic volume and higher number of smoking pack-years were significantly associated with higher WBC, CRP and IL-6.

smoking


Input: LPL concentration and activity were analyzed, and endothelial function was evaluated noninvasively as flow-mediated dilation of the brachial artery.

LPL

dilation


Input: Immunohistochemical and FISH analysis of EGFR and its prognostic value in patients with oral squamous cell carcinoma.

FISH

squamous cell carcinoma


Input: These results provide evidence that selective inhibition of HDAC1 and HDAC2 in brain may provide an epigenetic-based target for developing improved treatments for mood disorders and other brain disorders with altered chromatin-mediated neuroplasticity.

mood disorders

mood disorders


Input: In this study, we explored the function of EphB3 in non-small-cell lung cancer (NSCLC).

lung cancer


Input: Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus.

Keratin 13

white sponge nevus

Keratin 13

white sponge nevus


Input: The role of continuous passive motion (CPM) in the management of septic arthritis and inflammatory arthritis remains of interest.

CPM

inflammatory arthritis


Input: The present study was undertaken to determine the expression and functional significance of GPR37 in human multiple myeloma (MM).

myeloma


Input: Patients with irritable bowel syndrome (IBS) with diarrhea (IBS-D) carrying human leukocyte antigen (HLA)-DQ2/8 genotypes benefit from gluten withdrawal.

diarrhea


Input: The aims of this study were to compare the expression of the SRC-1, SRC-2, and SRC-3 coactivators between fibroids and normal myometrium in pure populations of cultured smooth muscle cells (SMC) and microvascular endothelial cells (MEC), and also between both cell types, and to identify any relationship between the SRC expression profiles and the known ER status of the SMC and MEC samples examined in this study.

SMC

fibroids


Input: Despite their DNA binding similarities, the EWS-FLI-1 translocation product is likely to have a distinct pattern of expression from that of FLI-1 since the translocation results in the replacement of the 5' regulatory region of Fli-1 with that of EWS.

EWS

translocation