Input: As a consequence of perturbed CNP expression, mice show secondary low-grade inflammation/neurodegeneration.

CNP

inflammation


Input: We aimed to determine the association between variation of the tumor necrosis factor (TNF)-alpha gene and the risk for chronic atrophic gastritis (CAG) and GC.

alpha gene

chronic atrophic gastritis


Input: We genotyped p53 codon 72 in 193 individuals with Lynch syndrome mutations, 93 patients with sporadic microsatellite unstable colorectal cancer, and 93 patients with sporadic microsatellite stable colorectal cancer from Finland and 323 Finnish controls.

sporadic


Input: Common polymorphisms in interleukin genes (IL4, IL6, IL8 and IL12) are not associated with alcoholic liver disease or alcoholism in Spanish men.

alcoholism

alcoholism


Input: Thus, these data provides evidence to the existence of an aberrant IL-6/STAT3/lncTCF7 signaling axis that leads to HCC aggressiveness through EMT induction, which could be novel therapeutic targets in malignancies.

aggressiveness


Input: The activins interact with heterodimeric serine/threonine kinase receptor complexes to activate SMAD transcription factors and the MAP kinase signaling pathways, which mediate inflammation, stress, and immunity.

serine/threonine kinase

inflammation


Input: To examine whether genetic variability at the GCKR gene locus was associated with the degree of insulin resistance, plasma concentrations of C-reactive protein (CRP) and n-3 PUFA in MetS subjects.

CRP

insulin resistance


Input: Different types of cortical abnormalities, cerebellar vermis hypoplasia, and optic nerve hypoplasia/atrophy were detected on MRI.

MRI

optic nerve hypoplasia


Input: Based on the current results, it seems that chronic inflammation in depressed patients correlates to the over expression of TRIF and MYD88 genes.

TRIF

depressed

TRIF

depressed


Input: We postulate that IL-6 may play a role in the clinical aggressiveness of human NHL by stimulating MMP production.

aggressiveness


Input: The effects of APOE, Hfe, and AAT on glucose, lipid, iron and trace mineral homeostasis may affect normal development and aging of the nervous system in addition to their effects on outcome of toxic environmental and occupational exposures and susceptibility and outcome of neurodegenerative illnesses.

APOE

nervous system


Input: There was no correlation between plasma post-heparin LPL activity/mass and postprandial triglycerides nor with insulin resistance.

LPL

insulin resistance


Input: Genetic variants in CASP3, BMP5, and IRS2 genes may influence survival in prostate cancer patients receiving androgen-deprivation therapy.

prostate cancer


Input: Conflicting results of an association of the human platelet antigen 1b (HPA-1b/PlA2), localized on the beta-subunit of the integrin alpha (IIb) beta3, and the alpha (2) 807TT genotype of the integrin alpha2beta1 with coronary atherosclerosis and myocardial infarction have been reported.

coronary atherosclerosis


Input: Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

EVC

Ellis van Creveld syndrome

EVC

Ellis van Creveld syndrome


Input: PSF is essential for translocation of NF-κB and ERK to the nucleus.

PSF

translocation


Input: To dissect immunological mechanisms responsible for immune tolerance toward leukemia, we established a murine model system allowing clonotypic analysis of leukemia-specific CD4 T cells recognizing ovalbumin (OVA).

leukemia


Input: In contrast, the " AP2-like " sequence does not play such a role in regulation of the CR gene transcription in adenocarcinoma and mesothelioma cancer cells.

mesothelioma


Input: A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.

ATM

ataxia telangiectasia

ATM

ataxia telangiectasia


Input: Histological study revealed that loss of CA1 and CA3 pyramidal neurons after ischemia was marked in GFAP (-/-).

ischemia


Input: Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.

uroporphyrinogen decarboxylase

mild


Input: It is caused by generalized hyperplasia of the juxtaglomerular apparatus at the site of renin production caused by mutations in the Na-K-2Cl cotransporter gene, NKCC2.

hyperplasia


Input: In the atopic asthmatics, the expression of IL-13 was significantly greater than that for IL-4 (p <. 01).

atopic


Input: We studied the influence of genotype on systemic autoimmunity by treating female mice of the H-2s strains SJL/N, SJL/J, A. SW, and B10. S with mercuric chloride (HgCl2) for 10 weeks and then following autoantibody and tissue immune deposits during the subsequent 12 months.

autoimmunity


Input: VEGF in the non-neoplastic compartment showed increased staining in Ann Arbor stage I-II versus III-IV.

VEGF

non-neoplastic


Input: We found that the transcriptional activity of the gene is affected by the number of 33-bp repeats, which include an Sp1 binding site, suggesting that the excessive expression of Syt11 can be associated with schizophrenia.

schizophrenia

schizophrenia


Input: The molecular basis for one of these mutations, (ARG) 531 (HIS), is an increased rate of A2 subunit dissociation.

ARG

dissociation


Input: We further identify FAK-dependent activation of p90 ribosomal S6 kinase family proteins (RSK) as a crucial mediator of oxLDL-dependent IKKβ and NF-κB signaling, as inhibiting RSK blocks oxLDL-induced IKKβ and NF-κB activation, VCAM-1 expression and monocyte adhesion.

NF-κB

adhesion


Input: In conclusion, these data suggest that in heart failure, the functional Arg16Gly and Gln27Glu variants of the beta2-AR gene have no independent effect on adverse structural remodeling and pump function.

heart failure


Input: We report here that centrally and peripherally administered GLP-1R agonists dose-dependently increased blood pressure and heart rate.

blood pressure


Input: The EWS/FLI1 translocations were detected in 7/8 (87. 5%) ESFTs cases, whereas non of 8 cPNET cases were detected with this translocation.

EWS

translocation


Input: The study investigated the possible influence of GSTM1, GSTT1, and GSTP1 gene polymorphisms as predisposing factors for premalignant gastric lesions as well as their interaction with H. pylori infection, gastrotoxic drugs, smoking, and alcohol consumption.

GSTP1 gene

alcohol consumption


Input: Further, high plasma levels of HMGB1 correlate with poor prognosis and increased mortality in patients with severe inflammation.

inflammation

inflammation


Input: During and after pilocarpine-induced status epilepticus, progressive changes of each of CCR7, CCR8, CCR9 and CCR10 proteins occurred in different patterns at various time points.

status epilepticus

status epilepticus


Input: Here, we identified ubiquitously transcribed tetratricopeptide repeat on chromosome X (UTX), a histone demethylase involved in demethylating di-or tri-methylated histone 3 lysine 27 (H3K27me2/3), as a positive regulator for the expression of E-cadherin in the colon cancer cell line HCT-116.

UTX

colon cancer


Input: While it is well established that tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) induces apoptosis in various cell types, the role of TRAIL in regulation of retinal neovascularization (NV) has not been described.

TRAIL

retinal neovascularization


Input: Five patient groups with fucosidosis were selected according to their ethnic backgrounds and haplotypes for RFLPs in FUCA-1.

fucosidosis

fucosidosis


Input: Following treatment of the glioblastoma cells with GHRH antagonists, nuclear translocation of apoptosis inducing factor (AIF) and Endonuclease G (Endo G) and the mitochondrial release of cytochrome c (cyt c) were detected, indicating that the cells were undergoing apoptosis.

cytochrome c

glioblastoma


Input: The significance of the translocation and the coexistence of CD10 and CD13 on the same cell are discussed.

translocation


Input: Normal kidneys, thin basement membrane nephropathy, and minimal change disease were negative for the three TGF-beta isoforms and Tat.

TGF-beta

minimal change disease


Input: Here, we compared the location of centromeric breaks associated with whole arm translocations in seven adenocarcinoma cell lines and nine squamous cell carcinoma cell lines using SKY, microarray-based comparative genomic hybridization (array CGH) and fluorescence in situ hybridization (FISH).

FISH

squamous cell carcinoma


Input: Fatty acid binding proteins (FABP-4/aP2) and CD36 expression are key factors in lipid accumulation in macrophages and foam cell formation in atherogenesis.

atherogenesis


Input: Importantly, adhesion of ovarian carcinoma cells to human peritoneal mesothelial cells was dependent on CX (3) CL1/CX (3) CR1 signaling.

ovarian carcinoma


Input: Therefore, we studied the induction of Th1 (TNF-alpha, IFN-gamma, IL-1beta and IL-2), Th2 (IL-4), IL-10 cytokines and adhesion molecule sICAM-1 in the lymphocytes isolated from symptomatic and asymptomatic NCC cases by stimulating them with Taenia solium cyst fluid antigens.

asymptomatic


Input: These suggested that miRNA-200c regulated the sensitivity of chemotherapy to cisplatin (DDP) in gastric cancer by possibly targeting RhoE.

RhoE

gastric cancer


Input: Glutathione S-transferases (GST) modulate the effects of exposure to various cytotoxic and genotoxic agents, including those associated with increased risks of the myelodysplastic syndrome (MDS), acute myeloid leukaemia (AML) and aplastic anemia (AA).

GST

anemia


Input: The role of hypoxia was shown by the fact that hypoxia-inducible factor (HIF)-1α silencing downregulated RAGE and P2X7R protein levels as well as nuclear factor-kappaB (NF-κB) expression.

RAGE

hypoxia


Input: Our data demonstrate that desmosterolosis is a cholesterol-biosynthesis disorder caused by mutations in DHCR24.

desmosterolosis

desmosterolosis


Input: An antiserum prepared against a peptide deduced from the Dio2 mRNA sequence precipitates a (75) Se protein of the predicted 31-kDa size from (75) Se-labeled mesothelioma cells.

mesothelioma

mesothelioma


Input: Patients with B27-JA should be screened for the presence of aortic regurgitation.

aortic regurgitation


Input: OPN gene and protein expression is induced in both proximal and distal tubular cells during rat toxic ARF.

OPN

ARF

OPN

ARF


Input: Recent reports suggested that lipocalin-type prostaglandin D synthase (L-PGDS) is implicated in atherogenesis.

L-PGDS

atherogenesis


Input: Mutations in WNT10B Are Identified in Individuals with Oligodontia.

Oligodontia

Oligodontia


Input: The pineocytomas showed high expression of TPH, HIOMT, and genes related to phototransduction in the retina (OPN4, RGS16, and CRB3), whereas the pineoblastoma showed high expression of UBEC2, SOX4, TERT, TEP1, PRAME, CD24, POU4F2, and HOXD13.

pineoblastoma


Input: Primary HLH includes PRF1, UNC13D, STX11, STXBP2, RAB27A, LYST, SH2D1A and XIAP gene mutations; and secondary HLH is associated with infections, malignancies and autoimmune diseases.

secondary


Input: miR-142-3p down-regulation contributes to thyroid follicular tumorigenesis by targeting ASH1L and MLL1.

tumorigenesis


Input: Patients with mutations in IRAK4 or MYD88 suffer from pyogenic bacterial diseases, including invasive pneumococcal diseases in particular.

pneumococcal diseases


Input: Mutations in cartilage oligomeric matrix protein (COMP) produce clinical phenotypes ranging from the severe end of the spectrum, pseudoachondroplasia (PSACH), which is a dwarfing condition, to a mild condition, multiple epiphyseal dysplasia (MED).

MED

mild


Input: Mean MBL levels were compared between genotypic groups and multivariate regression was used to determine other independent factors influencing MBL2 expression.

regression


Input: Class comparison analysis by significance analysis of microarrays on a subset of CLL samples (n = 14) indicated that a number of cell surface receptor and adhesion related genes were under-expressed in the 11q22. 3 deletion group (CD44, CD11a, PTPRC, CD79a, chemokine ligand 17 and chemokine receptor type 6).

adhesion


Input: Moreover, the emergence of polyploid endothelial cells during replicative aging and glucose overload can be prevented by optimizing the Nampt-SIRT1 axis.

polyploid


Input: This study analysed changes in the expression of genes associated with skin barrier dysfunction in atopic dermatitis (AD) skin lesions after 2 weeks of exposure to PIM 1% cream.

PIM

skin lesions


Input: There was no evidence of BAX mutation in the other cancers, nor was somatic mutation of the BAK gene detected in the cancers.

BAX

somatic mutation


Input: Expression of HOXA10 in endometrial hyperplasia and adenocarcinoma and regulation by sex hormones in vitro.

adenocarcinoma

adenocarcinoma


Input: We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy.

MYPN

cap myopathy

MYPN

cap myopathy


Input: Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16. 3 that cause cherubism.

cherubism

cherubism


Input: HSF1 deficiency and impaired HSP90-dependent protein folding are hallmarks of aneuploid human cells.

aneuploid


Input: Our study suggests that the ability of Ang IV to inhibit pilocarpine-induced convulsions is dependent on somatostatin receptor-2 activation, and is possibly mediated via the inhibition of IRAP resulting in an elevated concentration of somatostatin-14 in the brain.

convulsions

convulsions


Input: In sporadic cancers, silent p53 mutations are correlated with exonic splicing enhancers (ESEs) and exonic methylated sites.

sporadic


Input: In the sporadic tumors and hereditary breast cancer patients, we have found no evidence to support the involvement of aberrant CLDN1 in breast tumorigenesis.

sporadic


Input: Role of the copper transporter, CTR1, in platinum-induced ototoxicity.

ototoxicity


Input: Clinical and pathological features were evaluated to predict tumor microsatellite instability (MSI) and germline mutations in MLH1 and MSH2 DNA mismatch repair genes in two patient groups with sporadic colorectal cancer (CRC): 38 young patients (age </= 45 years) and 31 old patients (age >/= 60 years).

sporadic


Input: Levels of miR-146a/b, IRAK1 mRNA, TRAF6 mRNA and TLR4 mRNA/TLR4 protein were significantly higher in the CAD group than in the non-CAD group (all P & lt; 0. 01).

non-CAD

non-CAD


Input: The inhibition of c-Jun N-terminal Kinase and p38 attenuated CD154-mediated apoptosis but not necrosis.

necrosis

necrosis


Input: A novel mutation in the thyroglobulin gene that causes goiter and dwarfism in Wistar Hannover GALAS rats.

thyroglobulin

dwarfism

thyroglobulin

dwarfism


Input: Recently, variants in CHEK2 gene were shown to associate with sporadic prostate cancer in the USA.

CHEK2 gene

sporadic


Input: The translocation has been reported to generate a fusion gene between the EWS (a previously undescribed gene on chromosome 22) and FLI1 genes.

EWS

translocation


Input: In a SFD family with a novel TIMP3 point mutation, we tested a hypothesis that their night blindness is due to a chronic deprivation of vitamin A at the level of the photoreceptors caused by a thickened membrane barrier between the photoreceptor layer and its blood supply.

SFD

SFD


Input: MATERIALS AND METHODS: The expression of MACC1 and MET mRNA in residual cancer cells from 52 patients after CRT was determined by quantitative real-time polymerase chain reaction.

MET

residual cancer


Input: Glycine loading caused systolic blood pressure to fall in the XT2 (-/-) mice from 127 +/-3 to 115 +/-3 mmHg (P < 0. 001), a level virtually identical to that of the wild-type controls.

systolic blood pressure


Input: Elevated levels of procoagulant proteins factor II, factor VIII, factor IX, factor XI and fibrinogen are associated with an increased risk of venous thrombosis.

factor II

fibrinogen


Input: Additionally, pkr1-null mice showed diminished thermal hyperalgesia after acute inflammation elicited by mustard oil and reduced pain behavior after chronic inflammation produced by complete Freund' s adjuvant.

pain

pain


Input: Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p. R390W, p. E382K, p. R390Q, p. R288C, p. H397Y, p. F247S, p. D335V and g. 561_562insC, responsible together for 12% of the examined alleles.

ARSA

MLD

ARSA

MLD


Input: We further show that 5-aza-2'-deoxycytidine induced reexpression of AP-2alpha in MDA-MB-231 breast cancer cells (wherein AP-2alpha expression is silenced by hypermethylation), resulted in massive apoptosis induction, increased chemosensitivity, decreased colony formation, and loss of tumorigenesis upon chemotherapy.

breast cancer

breast cancer


Input: Consecutive patients with >/= 50% carotid stenosis, whether symptomatic (with ipsilateral ischemic events) or asymptomatic, who were evaluated and followed in a neurovascular clinic were tested for plasma levels of homocysteine, C677T mutation in methylenetetrahydrofolate reductase, G20210A mutation of factor II, factor V Leiden, antiphospholipid antibodies, and polymorphisms of platelet membrane GP: human platelet antigen (HPA)-1, GP Ia (C807T), and GP Ib (variable number of tandem repeats, Kozak, and HPA-2).

HPA

carotid stenosis


Input: Global ischemia was induced in 3-and 18-month-old male Sprague-Dawley rats and CA1 and CA3 hippocampal areas, dentate gyrus and cerebral cortex of sham-operated and I/R animals were removed 48 h after insult.

ischemia


Input: Knockdown of KA2 and NR2D did not influence cancer phenotype.

cancer


Input: In the third translocation, chromosome 7 is broken at about 10 kilobases downstream of the 3' end of GLI3.

translocation


Input: The two groups did not differ by insulinemia and glycemia, insulin resistance index, blood levels of thyrotropic hormone, sex hormone-binding globulin, insulin-like growth factor-1, triglycerides, or lipoproteins.

sex hormone-binding globulin

insulin resistance


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

HCC

adenovirus


Input: Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.

campomelic dysplasia

campomelic dysplasia


Input: Thus, GUCY2C is a likely candidate modifier of the meconium ileus phenotype in CF.

meconium ileus

meconium ileus


Input: The Ca2 +-mediated increase in AP-1 binding may play an important role in upregulating AP-1-responsive gene expression, in stimulating pulmonary vascular cell proliferation and, ultimately, in pulmonary vascular remodeling in patients with hypoxia-mediated pulmonary hypertension.

hypoxia


Input: Variants in BBS1 are significantly associated with nonsyndromic autosomal recessive RP and relatively mild forms of BBS.

mild


Input: Levels of adiponectin, C-reactive protein and interleukin-1 receptor antagonist are associated with insulin sensitivity: a population-based study.

C-reactive protein

insulin sensitivity


Input: OHT repressed FOXM1 expression in endocrine sensitive but not resistant breast carcinoma cell lines.

breast carcinoma

breast carcinoma


Input: This study establishes a TAA model by periarterial CaCl (2) exposure in rats, and demonstrates a significant elevation of expression of MMP-2, MMP-9, ADAM10 and ADAM17 in the pathogenesis of vascular remodeling.

vascular remodeling


Input: Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

multiple endocrine neoplasia type 1

multiple endocrine neoplasia type 1


Input: This review will focus on the possible applications of H2AX as a key regulator of DNA damage response in lung cancer and as a biomarker of: sensitivity of lung tumors to chemotherapy and radiotherapy, treatment with PARP inhibitors, bystander effect, multistep lung carcinogenesis, environmental smoking, and chemical genotoxicity, chemoprevention, prognosis, and also as therapeutic targets in lung cancers.

smoking


Input: Disseminated peritoneal leiomyomatosis (DPL, leiomyomatosis peritonealis disseminata) is a rare condition in which multiple histologically benign smooth muscle tumorlets diffusely stud peritoneal and omental surfaces in females, predominantly of reproductive age.

DPL

leiomyomatosis


Input: In vitro expression of mutant cDNA clones demonstrated that all of these mutations led to a deficiency of ASPA and should therefore result in Canavan disease.

ASPA

Canavan disease

ASPA

Canavan disease


Input: Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.

X-linked lymphoproliferative disease

X-linked lymphoproliferative disease


Input: We measured serum levels of monocyte chemoattractant protein (MCP)-1, fasting plasma glucose (FPG), HbA1c, total cholesterol, triglyceride, body mass index (BMI), high sensitivity CRP (hs-CRP) and evaluated CCR2, CD36, CD68 expression on the surface of monocytes.

MCP

body mass index


Input: Targeted disruption of the leukotriene B (4) receptor in mice reveals its role in inflammation and platelet-activating factor-induced anaphylaxis.

leukotriene B (4) receptor

inflammation

leukotriene B (4) receptor

inflammation


Input: In women (n = 801), the less common alleles of PLIN1 and PLIN4, in strong linkage disequilibrium (D': 0. 96), were significantly associated with lower body mass index.

body mass index


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

colon cancer

colon cancer


Input: Our findings suggest that noradrenergic-regulated plasticity genes such as CAM-L1, laminin, and CREB play an important role both in stress and in the treatment of depression.

CAM

depression

CAM

depression


Input: Identification of three novel menin mutations (c. 741delGTCA, c. 1348T & gt; C, c. 1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: Additional information for mutational screening.

menin

multiple endocrine neoplasia type 1

menin

multiple endocrine neoplasia type 1


Input: These findings provide further support for the hypothesis that ACS and QMEs are uniquely caused by disruption of the EDN1-EDNRA signaling pathway.

ACS

ACS


Input: The data furthermore support the hypothesis that the 5-HT (7) receptor might be a suitable target for treating depression.

5-HT (7

depression

5-HT (7

depression


Input: Nucleotide sequence analysis of the exact junction region and the corresponding germline DNA showed that the translocation at 12p13 occurred in the negative regulatory region of the cyclin D2 gene at the nt-1602, and a pentamer consisting of nts-1603 to-1599 was lost at the break site.

cyclin D2 gene

translocation


Input: Taken together, these results suggest that IFITM1 is a potential therapeutic target for gliomas.

gliomas


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

melanoma

melanoma


Input: We simultaneously investigated the concentration of IL-35, IL-10, TGF-β, and sCD25 in supernatant of cell culture and the expression patterns of several miRNAs in CD4 (+) CD25 (+) CD127 (-/low) FoxP3 (+) Tregs of ulcerative colitis (UC) patients.

ulcerative colitis


Input: AGAT enzyme activity was detectable in both human and rat myocardia and was elevated in heart failure.

AGAT

heart failure

AGAT

heart failure


Input: The frequency of G-T transversions and the incidence of guanosine mutations in the nontranscribed strand of the p53 gene were found to be higher than expected, and we suggest, therefore, that exogenous carcinogens have an etiological role in sporadic breast cancers.

p53 gene

sporadic


Input: Deficiency of Asparagine Synthetase (ASNSD, MIM 615574) is a very rare autosomal recessive disorder presenting with some brain abnormalities.

Asparagine Synthetase

abnormalities


Input: Characterization of an Opa interacting protein 5 involved in lung and esophageal carcinogenesis.

Opa interacting protein 5

esophageal


Input: Herein, we analyzed inflammation-mediated calcitonin I gene (CALC I) expression in human adipocyte primary cultures and in adipose tissue samples from infected and noninfected patients with different levels of serum ProCT.

CALC

inflammation


Input: Thus, hsa-miR-26a, CDK4, and CENTG1 comprise a functionally integrated oncomir/oncogene DNA cluster that promotes aggressiveness in human cancers by cooperatively targeting the RB1, PI3K/AKT, and JNK pathways.

aggressiveness


Input: Migraineurs have an interictal sympathetic nervous system (SNS) hypofunctionality and hypersensitivity to adrenergic amines.

SNS

hypersensitivity


Input: Here, using intravital microscopy to evaluate mice lacking specific isoforms of the serine/threonine kinase AKT and bone marrow chimeras, we found that hematopoietic cell-associated AKT2 is important for neutrophil adhesion and crawling and neutrophil-platelet interactions on activated endothelial cells during TNF-α-induced venular inflammation.

serine/threonine kinase

inflammation


Input: Our results suggest that although most undifferentiated VIN lesions are associated with HPV infection, p53 mutations may occur independent of viral infection even in the presence of oncogenic HPV.

VIN

viral infection


Input: In the TGF-alpha transgenic mouse model, TGF-alpha protects against nickel-induced acute lung injury, at least in part, by attenuating the inflammatory response, reducing pulmonary edema, and preserving levels of SP-B.

TGF-alpha

pulmonary edema

TGF-alpha

pulmonary edema


Input: The endothelial nitric oxide synthase (NOS3) gene has been implicated in the pathogenesis of hypertension-related left ventricular hypertrophy (LVH).

endothelial nitric oxide synthase

ventricular hypertrophy


Input: Sixteen MPNSTs but none of the neurofibromas tested were found to have somatic mutations in SUZ12, implicating it as having a central role in malignant transformation.

neurofibromas

neurofibromas


Input: Patients with Gitelman syndrome, a hereditary salt-wasting tubulopathy, have loss-of-function mutations in the SLC12A3 gene coding for the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule.

Gitelman syndrome

Gitelman syndrome


Input: In a logistic model that controlled for age, body mass index, diabetes, and smoking, the adjusted odds ratio (OR) for hypertension was 1. 0 (95% CI, 0. 8 to 1. 2), and 1. 0 (95% CI, 0. 9 to 1. 2) for ADRA2A and ADRA2C variant alleles.

body mass index


Input: HMGCS2 enhances invasion and metastasis via direct interaction with PPAR & #945; to activate Src signaling in colorectal cancer and oral cancer.

oral cancer

oral cancer


Input: From the multivariate analysis, the only independent predictor of higher level of IFN was the age of patients (p = 0. 019), whereas independent predictors of a fibrosis stage ≥ F2 were age (p = 0. 007), belonging to the HIV/HCV group (p = 0. 048) and current alcohol consumption (p = 0. 008).

IFN

alcohol consumption


Input: We studied 168 men with idiopathic infertility [oligoasthenoteratozoospermia (OAT)] and equal number of age-matched normal controls.

OAT

infertility


Input: Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI.

lysyl hydroxylase 1

Ehlers-Danlos syndrome type VI

lysyl hydroxylase 1

Ehlers-Danlos syndrome type VI


Input: A subtype of CDP, X-linked dominant chondrodysplasia punctata (CDPX2), known also as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia.

CDP

cataracts


Input: The aim of this study was to screen for novel polymorphisms in the C5R1 gene and to determine whether any identified polymorphisms are associated with asthma and/or atopy and whether they are functional.

atopy


Input: In human tissues, although the expression of acidic fibroblast growth factor (aFGF) was found to increase from normal liver to chronic hepatitis, its expression remained unchanged in the transition from chronic hepatitis to HCC.

HCC

chronic hepatitis


Input: Skin samples from seven patients with cutaneous chronic GVHD, six post-BMT controls and six normal controls were evaluated by reverse transcription polymerase chain reaction for the proinflammatory cytokines interleukin-1 alpha (IL-1 alpha) and tumor necrosis factor-alpha (TNF-alpha), Th1-associated cytokines IL-2 and interferon-gamma (IFN-gamma), Th2-associated cytokines IL-4, IL-5 and IL-10, and fibrosis-associated cytokines platelet derived growth factor (PDGF) and transforming growth factor-beta (TGF-beta).

fibrosis


Input: MKK4 expression was present in 24 intestinal metaplasia lesions (89%) and 12 gastric epithelial dysplasia lesions (100%), but in only 6 normal stomach samples (8%).

intestinal metaplasia


Input: These data suggest that unlike FANCF, both ER and BRCA1 are specifically targeted for methylation in sporadic breast cancers, a phenomenon that should be explored for development of novel diagnostic and therapeutic approaches.

FANCF

sporadic


Input: Vaccination with dendritic cells transfected with mRNA-encoded folate-receptor-alpha for relapsed metastatic ovarian cancer.

folate-receptor-alpha

ovarian cancer

folate-receptor-alpha

ovarian cancer


Input: GAA/GYS1-KO mice exhibited a profound reduction of the amount of glycogen in the heart and skeletal muscles, a significant decrease in lysosomal swelling and autophagic build-up as well as a complete correction of cardiomegaly.

cardiomegaly


Input: In morbidly obese participants, DBC1 was positively correlated to TNF and senescence (TP53 and BAX) gene expression markers in both subcutaneous and visceral adipose tissues.

BAX

obese


Input: Rats with DCM showed declined systolic myocardial performance associated with myocardial hypertrophy and fibrosis, which were accompanied with metabolism abnormalities, aberrant myocardial enzymes, increased AGEs (advanced glycation end products) accumulation and RAGE (receptor for AGEs) expression, elevated markers of oxidative stress (MDA, SOD, the ratio of NADP (+)/NADPH, Rac1 activity, NADPH oxidase subunits expression of gp91 (phox) and p47 (phox)), raised inflammatory factor (TNF-α and IL-1β), enhanced apoptotic cell death (ratio of bax/bcl-2, caspase-3 activity and TUNEL), diminished Akt and GSK-3β phosphorylation.

hypertrophy


Input: Statistical differences between normal-weight and overweight + obese subjects were found in the methylation status of different CpG sites of CLOCK (CpGs 1, 5-6, 8 and 11-14) and, with lower statistical significance, in BMAL1 (CpGs 6-7, 8, 15 and 16-17).

weight


Input: The frequency of the ACE gene deletion allele was similar in familial pancreatitis (49. 0%) sporadic pancreatitis (51. 0%) and controls (55. 8%).

ACE gene

familial pancreatitis


Input: In 166/179 patients with available detailed clinical features, final diagnoses were: four late-onset marked pulmonary disease, 83 isolated CBAVD, 67 other CFTR-related phenotypes, including 44 CBAVD with pulmonary and/or pancreatic symptoms and 12 asymptomatic cases.

CFTR

asymptomatic


Input: Our results suggest a molecular pathway of tumorigenesis that is similar to MMR-deficient colorectal cancers and consistent with the notion that the site distributions of hereditary or sporadic MSI-high tumors may reflect tissue-specific susceptibility to lesions processed by the MMR machinery.

MMR

tumorigenesis


Input: These findings improve our understanding of calcium signaling related biological function of CUG-BP1 in muscle atrophy.

muscle atrophy


Input: Mutations of the p53 tumour suppressor gene are relatively common in the aetiology of a wide spectrum of tumour types, both sporadic and familial.

sporadic


Input: Up-regulation of cyclin D2 and down-regulation of plakoglobin were demonstrated in GLI1-amplified compared with non-amplified human rhabdomyosarcoma cells.

plakoglobin

rhabdomyosarcoma


Input: We conclude that 1) the spectrum of phenotypes in patients with GNRHR mutations is much broader than originally anticipated; 2) the frequency of GNRHR mutations may be more common than previously appreciated in familial cases of normosmic IHH and infrequent in sporadic cases; and 3) functional mutations of the GNRHR are distributed widely throughout the protein.

GNRHR

sporadic


Input: We have now identified biallelic CNPY3 variants in three individuals with WS; these include compound-heterozygous missense and frameshift variants in a family with two affected siblings (individuals 1 and 2) and a homozygous splicing variant in a consanguineous family (individual 3).

WS

WS


Input: Human tissue kallikrein 5 is a member of a proteolytic cascade pathway involved in seminal clot liquefaction and potentially in prostate cancer progression.

tissue kallikrein 5

prostate cancer

tissue kallikrein 5

prostate cancer


Input: In addition to deaths associated with expression in neurons and keratinized epithelia, bovine oncostatin M caused abnormalities in bone growth and spermatogenesis, stimulated fibrosis surrounding islets in the pancreas, and disrupted normal lymphoid tissue development.

oncostatin M

fibrosis


Input: These findings suggest that overexpression of SRF exclusively in astrocytes can improve neuronal plasticity in FASD.

SRF

FASD

SRF

FASD


Input: Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.

EDA

hypohidrotic ectodermal dysplasia

EDA

hypohidrotic ectodermal dysplasia


Input: We screened a large cohort of muscular dystrophy patients for abnormalities in FHL1 (n = 102) and TCAP (n = 100) and selected patients whose clinical features overlapped the phenotypes previously described for BAG3 (n = 9), MATR3 (n = 15) and PTRF (n = 7).

abnormalities


Input: We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.

NF--L

major depression

NF--L

major depression


Input: The present study used GAL immunohistochemistry and an unbiased semiquantitative scoring method to evaluate GAL innervation in the anterior NB of subjects clinically diagnosed as having no cognitive impairment, mild cognitive impairment or early-stage (mild/moderate) AD.

GAL

mild


Input: Several features previously associated with poor PCa outcome have been found to be significantly more common in BRCA2-mutated PCa than in sporadic tumours and may help to explain their adverse prognosis and be of relevance for targeted therapies.

sporadic


Input: We observed a correlation (R (2) = 0. 75, P & lt; 0. 0001) between FCGR3B CNV and neutrophil expression in both healthy controls and patients with SLE.

SLE

SLE


Input: The ACAT-1-/-mice had decreased openings of the eyes because of atrophy of the meibomian glands, a modified form of sebaceous glands normally expressing high ACAT activities.

ACAT

atrophy


Input: Pathologically, hHcys-associated albuminuria, foot process effacement of podocytes, loss of podocyte slit diaphragm molecules, and glomerulosclerosis at the late stage were significantly improved by local ASC gene silencing or by caspase 1 inhibition.

ASC

hHcy

ASC

hHcy


Input: Osteopetrosis is an inherited disorder of impaired bone resorption, with the most commonly affected genes being CLCN7 and TCIRG1, encoding the Cl (-)/H (+) exchanger CLC-7 and the a3 subunit of the vacuolar H (+)-ATPase, respectively.

bone resorption


Input: Specifically, hypoxia markedly increased LOX protein expression; however, catalytic activity (beta-aminopropionitrile inhibitable hydrogen peroxide production) was significantly reduced under hypoxic conditions.

LOX

hypoxic


Input: Since patients with congenital insensitivity to pain with anhidrosis lack NGF-dependent unmyelinated (C-) and thinly myelinated (Aδ-) fibers, and their dermal sweat glands are without innervation, they exhibit no pain, itch, signs of neurogenic inflammation or sympathetic skin responses.

NGF

itch


Input: Mutations in the pantothenate kinase 2 gene (PANK2) are the cause of pantothenate kinase associated neurodegeneration (PKAN), an autosomal recessive (AR) disorder characterized by motor symptoms as such as dystonia or parkinsonism, mental retardation, retinitis pigmentosa and iron accumulation in the brain.

mental retardation


Input: In a stepwise linear regression analysis, the C-174G polymorphism was independently associated with insulin sensitivity; however, after inclusion of plasma IL-6 concentrations, the polymorphism was excluded from the model explaining insulin sensitivity variability, thus suggesting that the polymorphism was affecting insulin sensitivity by regulating IL-6 plasma levels.

insulin sensitivity


Input: Particularly ADA-deficient patients with late-onset forms and after enzyme replacement therapy (PEG-ADA) are known to manifest immune dysregulation.

ADA

immune dysregulation


Input: To extend these findings to further types of human tumours we analysed specimens from 64 patients with primary breast cancer for their individual expression levels of several MDR-associated genes (MDR1, MRP, LRP (lung cancer resistance-related protein), topoisomerase (Topo) II alpha/IIbeta, cyclin A and the PKC isozyme genes (alpha, beta1, beta2, eta, theta, and mu) by a cDNA-PCR approach.

cyclin A

lung cancer


Input: Previously, we have associated exonic polymorphisms in a Xq13 thyroid receptor coactivator named HOPA with a modest increase in vulnerability to a broad spectrum of neuropsychiatric illness, including depression, psychosis, and hypothyroidism.

HOPA

depression

HOPA

depression


Input: These results suggest that overexpression of p12 leads to testicular and ovarian abnormalities, a phenotype closely related to that of cdk2-/-mice.

abnormalities


Input: Results presented herein provide further evidence for a role of MAGI1 and MAGI2 in BPAD and SZ etiology.

BPAD

BPAD


Input: RESULTS: Patients who were homozygous for the minor allele displayed modestly decreased low-density lipoprotein (LDL) cholesterol and raised apolipoprotein B at baseline, and raised systolic blood pressure and high-density lipoprotein (HDL) cholesterol on follow-up.

apolipoprotein B

systolic blood pressure


Input: PATIENTS/SUBJECTS/METHODS: The methylation status of p16 was evaluated in 22 HCC, 17 cirrhosis, 17 chronic hepatitis, nine primary biliary cirrhosis (PBC), eight autoimmune hepatitis, seven drug induced liver disease, six fatty liver, and three normal liver tissues using methylation specific polymerase chain reaction (MSP).

HCC

chronic hepatitis


Input: Single 5-minute vorinostat (25 μm) topical application on the cornea following PRK significantly reduced corneal haze (P <. 008) and fibrotic marker proteins (α-smooth muscle actin and f-actin; P <. 001) without showing redness, swelling, or inflammation in rabbit eyes in vivo screened 4 weeks after PRK.

PRK

inflammation


Input: Here, we demonstrate that deletion in mice of the 13q14-minimal deleted region (MDR), which encodes the DLEU2/miR-15a/16-1 cluster, causes development of indolent B cell-autonomous, clonal lymphoproliferative disorders, recapitulating the spectrum of CLL-associated phenotypes observed in humans.

lymphoproliferative disorders


Input: This is the first study to implicate CCNO, a DNA repair gene reported to be involved in multiciliogenesis, in PCD.

CCNO

PCD

CCNO

PCD


Input: The following genetic variants were assessed HLA-DRB1 shared epitope (SE) alleles, rs2476601 (PTPN22), rs108184088 (TRAF1-C5), rs7574865 (STAT4), rs3087243 (CTLA4), rs4810485 (CD40), rs1678542 (KIF5A-PIP4K2C), rs2812378 (CCL21), rs42041 (CDK6), rs4750316 (PRKCQ), rs6684865 (MMEL1-TNFRSF14), rs2004640 (IRF5), rs6920220 and rs10499194 (TNFAIP3-OLIG3), interactions between HLA-SE alleles and rs2476601 (PTPN22) and between HLA-SE alleles and smoking.

smoking


Input: To determine the association of the TNF-alpha gene G-308A polymorphism on the risk of hepatocellular carcinoma (HCC) in a Turkish population, a hospital-based case-control study was designed consisting of 110 diagnosis subjects with hepatocellular carcinoma and 110 cancer-free control subjects matched on age, gender, smoking and alcohol status.

TNF-alpha

smoking


Input: The role of the familial breast cancer susceptibility genes, BRCA1 and BRCA2, in the homologous recombination (HR) pathway for DNA double-strand break (DSB) repair suggests that the mechanisms involved in HR and DNA DSB repair are of etiological importance during breast tumorigenesis.

tumorigenesis


Input: In a cognitively impaired male from this family, who also presented with tall stature and dysmorphism and did not have the MED12 mutation, a 600-kb duplication at 17p13. 3 including the YWHAE gene, was found in a mosaic state.

tall stature


Input: Subset analysis demonstrated no significant difference between the frequencies of HLA-DR3 and the susceptibility alleles of CTLA-4 A/G (49) and CT60 SNPs in the familial and sporadic GD subsets (P > 0. 05).

sporadic


Input: Thus, these data provides evidence to the existence of an aberrant IL-6/STAT3/lncTCF7 signaling axis that leads to HCC aggressiveness through EMT induction, which could be novel therapeutic targets in malignancies.

HCC

aggressiveness


Input: DNA samples from 95 patients with LCA were analyzed by using a microarray chip containing disease-associated sequence variants in eight LCA genes.

LCA

LCA

LCA

LCA


Input: In OVA-induced asthma models, which were applied to PAC1R-deficient mice (PAC1R (-/-)) and to BALB/c mice treated with the specific PAC1R agonist MAX, PAC1R deficiency resulted in inflammatory effects, while agonistic stimulation resulted in anti-inflammatory effects.

MAX

asthma


Input: The results of the present study suggested that the PON1 R and M alleles may play a role in the pathogenesis of cardiac ischemia in our North African population and that a decrease in PON1 activity may be a valuable marker for monitoring the development of the atherosclerosis process and the associated cardiovascular complications.

atherosclerosis

atherosclerosis


Input: In 42 healthy Japanese non-smoking men, we investigated the relationship between the MN frequency levels and genetic polymorphisms in three different genes: aldehyde dehydrogenase 2 (ALDH2), X-ray repair cross-complementing group 1 (XRCC1) and excision repair cross-complementing group 2 (ERCC2).

smoking


Input: We present the case of a 52-year-old patient with chronic myeloid neoplasm with eosinophilia and abnormalities of PDGFRA, in whom acceleration occurred after a year of cytostatic therapy with hydroxyurea and was successfully treated with imatinib.

PDGFRA

abnormalities


Input: Our results show significantly (p < 0. 001) higher expression of CCR9 by mucinous adenocarcinoma, papillary serous carcinoma, and endometriod ovarian carcinoma cases, than compared to non-neoplastic ovarian tissue.

ovarian carcinoma


Input: Ewing sarcoma, along with peripheral primitive neuroectodermal tumor, belongs to a tumor family that shares clinicopathologic and molecular genetic features, including the characteristic chromosomal translocation that results in the fusion of the EWS gene on 22q12 to either the FLI1 gene on 11q24 or other Ets family transcription factor gene, such as the ERG gene on 21q22.

EWS gene

chromosomal translocation


Input: Thus, polymorphisms have been reported in prothrombin, fibrinogen, factor V, tissue factor, endothelial protein C receptor, and plasminogen activator inhibitor-1 genes.

endothelial protein C receptor

fibrinogen


Input: The results indicate that BAP1 is the candidate gene in only a small subset of hereditary UM, suggesting the contribution of other candidate genes.

UM

UM


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

smoking


Input: Moreover, these animals exhibited renal inflammation, fibrosis, and increased cyclin E. These results indicate that FHHt-associated CUL3 Δ403-459 targets KLHL3 for degradation, thereby preventing WNK degradation, whereas general loss of CUL3 activity-while also impairing WNK degradation-has widespread toxic effects in the kidney.

fibrosis


Input: To assess whether vaccine induced antibodies against surface antigens of M. ulcerans can protect against Buruli ulcer we formulated two surface vaccine candidate antigens, MUL_2232 and MUL_3720, as recombinant proteins with the synthetic Toll-like receptor 4 agonist glucopyranosyl lipid adjuvant-stable emulsion.

Toll-like receptor 4

ulcer


Input: Collectively, we tested 228 unrelated female patients with a diagnosis of possible (209) or classic (19) RTT and found MECP2 mutations in 83 (40%) of 209 and 16 (84%) of 19 of the patients, respectively.

RTT

RTT


Input: The aims of the present study were to extend analysis of the association between NRG3 and psychotic symptoms and attention in schizophrenia and to determine whether these associations also apply to bipolar disorder.

bipolar disorder

bipolar disorder


Input: Fluorescence in situ hybridization (FISH) analysis using the LSI EWSR1 break-apart probe and a reverse transcription polymerase chain reaction (RT-PCR) assay optimized for formalin-fixed paraffin-embedded tissue to detect all four reported EWSR1/ATF1 clear cell sarcoma chimeric types and the EWSR1/CREB1 variant was performed.

clear cell sarcoma

clear cell sarcoma


Input: The association between five ESR α (ESR1) and β (ESR2) polymorphisms with 7-year dementia incidence was examined among 6959 older men and women from the Three City Study using multivariate-adjusted Cox regression models with delayed entry.

regression


Input: Here, we report a therapeutic role for AnxA5 in post-interventional vascular remodeling in a mouse model mimicking percutaneous coronary intervention (PCI).

vascular remodeling


Input: Nonantigen specific adhesion systems lymphocyte function-associated antigen 1/intercellular adhesion molecule (LFA-1/ICAM-1) and cluster designation 2/lymphocyte function-associated antigen 3 (CD2/LFA-3) are considered a crucial step in immune-mediated cell-cell adhesion reactions.

adhesion


Input: We found that the minor alleles for these polymorphisms were not related to invasive breast cancer risk overall in women of European descent: ECCR4 per-allele OR (95% CI) = 0. 99 (0. 97-1. 02), minor allele frequency = 27. 5%; TNF 1. 00 (0. 95-1. 06), 5. 0%; CASP10 1. 02 (0. 98-1. 07), 6. 5%; PGR 1. 02 (0. 99-1. 06), 15. 3%; and BID 0. 98 (0. 86-1. 12), 1. 7%.

BID

invasive breast cancer


Input: We report a female infant with a karyotype of 46, XX, der (9) t (9; 18) (p22. 2; q21. 32) pat and the phenotypic features of craniofacial dysmorphisms, developmental delay, hypotonia, horizontal nystagmus, strabismus, congenital heart defects, clubfoot, and anorectal malformations with an anterior ectopic anus and a stenosed anal opening.

strabismus


Input: Expression of mRNA for KL1, KL2, FSHR, PAPP and P450 in infertility patients with different infertility diagnoses.

FSHR

infertility


Input: RNA splicing mediated by YB-1 is inhibited by TLS/CHOP in human myxoid liposarcoma cells.

myxoid liposarcoma


Input: The expression of SPRY4-IT1 was examined in ccRCC patients and renal cancer cell lines by using quantitative real-time PCR (qRT-PCR).

renal cancer


Input: Our results indicate that CABC1 is an important candidate for mutation analysis in progressive cerebellar ataxia and atrophy on MRI to identify those patients, who may benefit from CoQ10 treatment.

atrophy


Input: In renal fibrosis, ADAM17 colocalized with TGF-alpha.

renal fibrosis


Input: The dexamethasone suppression test (DST) was administered after baseline cortisol measurements in 20 patients (10 males, 10 females) who met DSM-III criteria for obsessive-compulsive disorder (OCD).

DST

obsessive-compulsive disorder


Input: Our results suggest that E1B M (r) 55000-deleted adenovirus may have therapeutic potential for the treatment of HCC with loss of p53 transcription activity or with HBx expression.

HCC

adenovirus


Input: We evaluated the effects of pharmacological and RNAi-mediated inhibition of EHMT2 on the transcription of IFN-& #946; and other IFN-inducible antiviral genes, as well as its effect on foot-and-mouth disease virus (FMDV) and vesicular stomatitis virus (VSV) replication in bovine cells.

vesicular stomatitis

vesicular stomatitis


Input: High serum AFP levels, motor and sensory axonal neuropathy, and marked cerebellar atrophy on MRI were detected in all the patients who underwent these examinations.

MRI

sensory axonal neuropathy


Input: PubMed and other electronic databases were systematically searched up to August 2014 using the following terms: " GERD and CYP2C19 ", " esophagitis and CYP2C19 ", and " non-erosive reflux disease and CYP2C19. "

reflux


Input: DSE was performed in 103 patients with angiographically documented coronary artery disease.

DSE

coronary artery disease


Input: However, administration of IL-2 to patients can lead, by ill-defined mechanisms, to toxic adverse effects including severe pulmonary edema.

pulmonary edema


Input: We describe three individuals from two families with a recessive inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency due to a germline missense mutation in DHFR, resulting in profound enzyme deficiency.

DHFR

inborn error of metabolism

DHFR

inborn error of metabolism


Input: METHODS: Immunohistochemical analysis was performed on 138 gastric carcinoma specimens, their paired adjacent mucosa specimens, 102 paired lymphatic metastatic carcinoma tissue specimens, 30 dysplasia specimens, 30 intestinal metaplasia specimens, 10 chronic superficial gastritis specimens and 5 normal gastric mucosa specimens for Skp2 expression and on 138 gastric carcinoma specimens for p27 and PTEN expression.

chronic superficial gastritis


Input: We assessed the time course of expression of PTN, MK and FGF-2 during EAE and determined the cellular origin of FGF-2 and FGFR1 in normal spinal cord and during inflammatory demyelination.

demyelination


Input: The spectrum of Charcot-Marie-Tooth (CMT) phenotypes segregating with mutations in the Myelin Protein Zero (MPZ) gene is wide and ranges from congenital hypomyelinating neuropathy (CHN) through demyelinating form of CMT to the axonal type of CMT disease.

CHN

congenital hypomyelinating neuropathy


Input: In addition to lipid profile, homeostasis model assessment of insulin resistance (HOMA-IR) and high-sensitivity C-reactive protein (hsCRP) assays, monocyte GPR 120 expression, and plasma GPR 120 levels were assessed using quantitative polymerase chain reaction and enzyme-linked immunosorbent assay kits.

C-reactive protein

insulin resistance


Input: Exposure of keratinocytes to IFN-gamma and TNF-alpha increased intra-cytoplasmic expression and led to partial translocation at the cell surface.

TNF-alpha

translocation


Input: We also detected decreased EAAT3 transcript expression in schizophrenia and decreased EAAT4 transcript expression in major depressive disorder.

major depressive disorder

major depressive disorder


Input: The objective of the investigation was to assess whether circulating adhesion molecules, von Willebrand factor (vWf) and endothelin-1 are elevated in patients with mild uncomplicated essential hypertension without further risk factors of atherosclerosis and whether they could serve as indicators of endothelial dysfunction in this form of hypertension.

von Willebrand factor

hypertension

von Willebrand factor

hypertension


Input: Compared with the control group, the serum TG, TC, LDLC, nHDLC, apoA II, apoB100, apoC II, apoC III, apoE levels and TG/HDLC ratio in patients with type II b hyperlipidemia were significantly increased (P < 0. 001), and the serum HDLC levels and apoE/apoC III ratio were significantly decreased (P < 0. 05).

LDLC

hyperlipidemia


Input: There is little suggestion of interaction between NAT2 status and smoking and no relationship with NAT2 genotype alone.

smoking


Input: CONCLUSIONS: Our data confirm the importance of PTCH, SMOH and TP53 mutations in the pathogenesis of sporadic BCCs.

sporadic


Input: These data implicate a critical role for TXNIP in diabetes-related impairment of ischemia-mediated angiogenesis and identify TXNIP as a potential therapeutic target for the vascular complications of diabetes.

TXNIP

ischemia


Input: We report on a further patient, first child of healthy consanguineous parents, with severe developmental delay, seizures, hyperintensities of the basal ganglia on magnetic resonance imaging (MRI), progressive brain atrophy, optic nerve atrophy, repeatedly elevated blood lactate, and respiratory chain complexes I, I + III and cytochrome c oxidase deficiencies with borderline depletion of mitochondrial DNA in muscle tissue.

MRI

optic nerve atrophy


Input: A novel 778-bp cDNA fragment from human large cell lung carcinoma cell lines 95C and 95D was obtained, and named LCMR1 (Lung Cancer Metastasis Related protein 1).

large cell lung carcinoma


Input: In antiretroviral therapy (ART)-treated patients, to determine if AIDS-related non-Hodgkin lymphoma (AIDS-NHL) is preceded by: elevated frequency of potentially malignant abnormal activated/germinal center-like B cells, elevated serum prevalence of B-cell stimulatory Toll-like receptor (TLR) ligands resulting from HIV infection-associated microbial translocation, dysregulated B-cell TLR expression/signaling, and perturbations in the frequency of immunoregulatory cells.

ART

translocation


Input: Group A streptococci (GAS) can cause a wide variety of human infections ranging from asymptomatic colonization to life-threatening invasive diseases.

GAS

asymptomatic


Input: Association of polymorphisms in Th1, Th2 cytokine genes with hayfever and atopy in a subsample of EPIC-Heidelberg.

atopy


Input: Ratios of the consumed coagulation factors, prekallikrein, and HMW kininogen in rat plasma collected 7 h after intravenous injection of ETX were obtained as follows: prekallikrein (18. 0 +/-4. 8%), HMW kininogen (36. 2 +/-1. 9%), factor XII (54. 0 +/-0. 7%), factor VIII (86. 1 +/-1. 8%), factor VII (35. 6 +/-7. 7%), factor V (90. 6 +/-0. 8%), and factor I (fibrinogen) (> 89. 6 +/-0. 0%).

factor VIII

fibrinogen


Input: Collectively, these data identify a primary disease-causing molecular defect in cone cells and suggest that RDS-associated disease in patients may be a result of this defect coupled with secondary sequellae involving RPE and choriocapillaris cell loss.

RPE

secondary


Input: Sequencing of RBP3, contained in this region, was performed in this family and others with recessive RP.

RP

RP


Input: Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome

hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome


Input: Immunohistochemical stains performed on paraffin sections from these 6 representative cases showed differential protein expression of MLH1, MSH2, MSH6, and PMS2 when compared to normal reactive tissues from the same patient but showed no significant differences when compared to controls of non-familial, sporadic lymphomas.

sporadic


Input: Glutathione peroxidase 1 C593T polymorphism is associated with lobar intracerebral hemorrhage.

Glutathione peroxidase 1

intracerebral hemorrhage


Input: In view of the significance of MDM2 as a regulator as well as critical target of wild type p53, this study was undertaken to determine the alteration in MDM2 expression in esophageal squamons cell carcinoma (ESCC) and its relationship to clinicopathological parameters as well as p53gene and protein status.

esophageal


Input: Consistent with this notion, trans suppression of otx2 and other developmentally related genes recapitulate aspects of the otocephaly phenotype in zebrafish.

otocephaly

otocephaly


Input: KRAS2 mutations were found in 43% of the goblet cell serrated polyp (GCSP) category, 13% of MVSPs, 7% of SPAPs, and 24% of SAs; in 26% of large traditional adenoma (lTAs) compared with small traditional adenomas (sTAs) (0/30; P < 0. 005) and in 37. 3% of traditional carcinomas (TCa).

GCSP

polyp


Input: Finally, OSM secreted from KIT D816V (+) mast cells stimulated growth of endothelial cells, fibroblasts, and osteoblasts, suggesting that mast cell-derived OSM may serve as a key modulator of the marrow microenvironment and thus contribute to the pathology of systemic mastocytosis.

OSM

systemic mastocytosis


Input: Our findings suggest that the polymorphisms in XRCC3 are significantly associated with the risk of developing radiation-induced late xerostomia.

xerostomia


Input: To understand the molecular mechanisms of functional synergy between TAL1 and LMO in tumorigenesis and transcriptional regulation, we tried to identify downstream target genes regulated by TAL1 and LMO by a subtractive PCR method.

tumorigenesis


Input: Of the 22 tumor suppressor genes examined, aberrant methylation was observed for 9 genes: tumor protein p73 (TP73), fragile histidine triad (FHIT), von Hippel-Lindau (VHL), adenomatosis polyposis coli (APC), estrogen receptor 1 (ESR1), cyclin-dependent kinase inhibitor 2B (CDKN2B), death-associated protein kinase 1 (DAPK1), glutathione S-transferase pi (GSTP1), and immunoglobin superfamily, member 4 (IGSF4).

polyposis coli


Input: In a hypothesis-driven candidate gene approach, it has been recently shown that polymorphisms in the genes coding for PITX3 and EN1 are associated with sporadic PD.

sporadic


Input: inoculation of lacZ-tagged human fibrosarcoma cells (HT1080lacZ-K15), leading to the formation of experimental lung and liver metastases.

fibrosarcoma


Input: The aim of this study was the detection of mutations in the IDUA gene from 12 additional MPS I patients with various clinical phenotypes (severe, 8 cases; intermediate, 3 cases; mild, 1 case).

IDUA gene

mild


Input: The responses of GGT to alcohol drinking were classified into three groups: non-response, mild-response and hyperresponse.

GGT

alcohol drinking


Input: While not all mutations might have been picked up by this technique, the data suggest that, similar to adult sporadic meningiomas, some pediatric meningiomas may result from somatic mutations in the NF2 gene.

NF2 gene

sporadic


Input: In the whole series, increased CARM1 expression is correlated with features associated with aggressive behaviour such as young age, premenopausal status, large tumour size and high tumour grade.

aggressive behaviour


Input: The subjects homozygous for the PNPLA3 148M allele carrying the rare variant of TM6SF2 showed an odds ratio of 12. 2 (confidence interval 3. 8-39. 6, P = 0. 000001) to present hypertransaminasaemia compared with the remaining patients.

hypertransaminasaemia


Input: To gain insight into basal ganglia dysfunction in this form of hereditary parkinsonism, positron emission tomography (PET) with 18-fluorodopa (FDOPA) and 11C-raclopride (RAC) was performed in 5 affected family members and 5 asymptomatic relatives with proven compound heterozygous or heterozygous parkin mutations.

RAC

parkinsonism


Input: Administration of warfarin inhibited mesangial and glomerular hypertrophy and the increase in GFR and albuminuria in STZ rats.

GFR

albuminuria


Input: Most of the cases with minimal or mild chronic hepatitis were female, while most of male had moderate or severe chronic hepatitis, cirrhosis and HCC.

HCC

chronic hepatitis


Input: In the CNS, hypoxia/ischemia up-regulate sulfonylurea receptor 1 (SUR1)-regulated NCCa-ATP channels in microvascular endothelium, with channel activation by depletion of ATP being responsible for progressive secondary hemorrhage.

hypoxia


Input: TLR4 Asp299Gly and Thr399Ile were significantly associated with the occurrence of NCC (P <. 001 for Asp299Gly; P =. 003 for Thr399Ile) and progression to symptomatic NCC, compared with control subjects (P <. 001 for Asp299Gly; P <. 001 for Thr399Ile) or asymptomatic NCC (P <. 001 for Asp299Gly; P =. 002 for Thr399Ile).

NCC

asymptomatic


Input: Therefore, DHMEQ in combination with TNF-alpha may be a promising treatment for pancreatic cancer.

TNF

pancreatic cancer

TNF

pancreatic cancer


Input: Sucrose consumption was increased in DAT KO mice consistent with reduced anhedonia, and inconsistent with competitive hyperactivity; no increases were observed in SERT KO or NET KO mice.

NET

anhedonia


Input: The chronic heart failure-rescuing properties of myocardial S100A1 expression, the result of improved sarcoplasmic reticulum Ca2 + handling, included improved contractile function and left ventricular remodeling.

chronic heart failure


Input: In a case-control study restricted to a population from Northern Spain and utilizing 321 sporadic AD patients and 312 control subjects, we have found that the-850 TNF-alpha polymorphism does not interact with the APOE gene to increase the risk associated with the epsilon 4 allele.

TNF-alpha

sporadic


Input: In this study, therefore, we have determined whether dexamethasone (DEX) and pyrrolidine dithiocarbamate (PDTC), therapies that inhibit NF-κB, influence proteinuria.

NF-κB

proteinuria


Input: To elucidate the role of Th2 cytokines in autoimmune thyroid diseases, we have studied by immunohistochemistry the expression of two Th2 ligand/receptor systems (CD30-L/CD30 and IL-6/IL-6R) in goitrous Graves' disease (GD) and Hashimoto' s thyroiditis (HT).

thyroid diseases


Input: Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype.

JPS

JPS


Input: These results suggest that a bacterial ligand of integrin alpha5beta1 may contribute to the aggressive behavior of RA FLSs by inducing the release of pro-inflammatory cytokines and a cartilage-degrading enzyme, such as IL-6 and MMP-3, respectively.

aggressive behavior


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

regression


Input: While there are over 100 distinct mutations in the rhodopsin gene that are found in patients with the degenerative disease autosomal dominant retinitis pigmentosa (ADRP), there are only four known mutations in the rhodopsin gene found in patients with the dysfunction congenital stationary night blindness (CSNB).

ADRP

congenital stationary night blindness


Input: UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.

UROMODULIN

familial juvenile hyperuricemic nephropathy

UROMODULIN

familial juvenile hyperuricemic nephropathy


Input: Cryab-/-mice showed worse experimental autoimmune encephalomyelitis (EAE) at the acute and progressive phases, with higher Th1 and Th17 cytokine secretion from T cells and macrophages, and more intense CNS inflammation, compared with their wild-type counterparts.

inflammation


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

adenovirus


Input: The expression of CYP2J2 mRNA and protein in 130 specimens of human carcinoma and related adjacent normal tissues, four specimens of inflammatory pseudotumor tissues, eight human tumor cell lines and two normal cell lines (as control) was detected by reverse transcription-polymerase chain reaction (RT-PCR), western blot and immunohistochemistry.

carcinoma


Input: We have investigated the expression of IL-13 and IL-4 mRNA in the bronchial mucosa of nine stable atopic asthmatics and 10 normal controls, characterized the major cellular source of IL-13 mRNA, and examined the colocalization of IL-13 and IL-4 mRNA.

atopic


Input: Gene set enhancement analysis (GSEA) demonstrates that elevated MMP10 expression correlates with both cancer stem cell and tumor metastasis genomic signatures in human lung cancer.

lung cancer

lung cancer


Input: Hypochondroplasia in a child with 1620C & gt; G (Asn540Lys) mutation in FGFR3.

Hypochondroplasia

Hypochondroplasia


Input: In summary, we describe rearrangement frequencies and novel rearrangement partners of the CIITA, FOXP1 and PDL loci at base-pair resolution in a rare, aggressive lymphoma.

aggressive lymphoma


Input: Silencing EPOR on glioma cells exposed to conventional treatments enhances senescence and induces a robust genomic instability that leads to caspase-dependent mitotic death by increasing the number of polyploid cells and cyclin B1 expression.

EPOR

genomic instability


Input: In adult rabbits, mesenteric fat correlated to aortic lesion area, insulin resistance, fasting immunoreactive insulin, serum CRP, abdominal circumference and body weight.

CRP

insulin resistance


Input: Relative risk of death v the general population was assessed using standardised mortality ratios (SMR), which were compared by Poisson regression.

SMR

regression


Input: The hypothesis in this experiment was that adenovirus expression of human beta-defensin 6 (HBD6) would diminish concurrent PIV3 infection in neonatal lambs.

defensin 6

adenovirus


Input: In this study, in situ hybridization techniques were used to determine the location of interstitial collagenase and tissue inhibitor of metalloproteinase (TIMP) gene expression in samples from 11 squamous cell carcinomas of the head and neck (particularly the oral cavity) and from non-neoplastic mucosa of the same region.

TIMP

non-neoplastic


Input: Memory and naive-like regulatory CD4 + T cells expand during HIV-2 infection in direct association with CD4 + T-cell depletion irrespectively of viremia.

viremia


Input: Herein, we examined the activity-dependent nuclear translocation of TORC1 (transducer of regulated CREB activity 1) and the expression of TORC1, phosphorylated CREB (pCREB) and BDNF (brain-derived neurotrophic factor) at the early time of ischemic stroke as well as after the treatment with TSA.

CREB

ischemic stroke


Input: Previously, seven PKD-related PRRT2 heterozygous mutations were identified in the Taiwanese population: P91QfsX, E199X, S202HfsX, R217PfsX, R217EfsX, R240X and R308C.

PKD

PKD


Input: This study analyzes how age and inflammation modify the response of the vesicular glutamate transporters (VGLUTs), VGLUT1-3 to global brain ischemia/reperfusion (I/R) in brain areas with different I/R vulnerabilities.

inflammation


Input: HSR treatment induced lung injury, as demonstrated by pulmonary edema with infiltration of neutrophils, the increase in lung W/D ratio, MPO activity, gene expression of TNF-alpha and iNOS, and DNA-binding activity of NF-kappaB, and enhanced expression of ICAM-1.

MPO

pulmonary edema


Input: The consequences of defective homologous recombination (HR) are not understood in sporadic ovarian cancer, nor have the potential role of HR proteins other than BRCA1 and BRCA2 been clearly defined.

sporadic


Input: The depression-like behavior was virtually abolished in TNF & #945; p55 receptor-knockout mice, and increased B1 receptor mRNA expression was completely absent in this mouse strain.

depression

depression


Input: We hypothesized that MIF participates in the pathogenesis of eosinophilic esophagitis (EoE), an allergic condition characterized by esophageal eosinophilic inflammation.

MIF

eosinophilic esophagitis


Input: Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM #204690), or gingival hyperplasia in Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome (AIGFS, MIM #614253).

MIM

nephrocalcinosis


Input: Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best' s vitelliform macular dystrophy.

Best' s vitelliform macular dystrophy

Best' s vitelliform macular dystrophy


Input: Syndromic and sporadic FGPs without dysplasia exhibited similar proliferative activity, degree of apoptosis, beta-catenin and p53 expression.

sporadic


Input: Wortmannin, a phosphatidylinositol 3-kinase (PI3K) inhibitor, abolished the increase in the P-Ser/Thr content of IRS-1, its dissociation from the IR, and the decrease in its P-Tyr content following 60 min of insulin treatment, indicating that the Ser kinases that negatively regulate IRS-1 function are downstream effectors of PI3K.

dissociation


Input: This effect appears to be mediated by direct contact, or even adhesion, between the platelets and endothelial cells and via NFκB-dependent signaling.

NFκB

adhesion


Input: Present study was designed for carrying out the mutational analysis of the entire Androgen receptor (AR) gene including two microsatellite (CAG) n, (GGN) n, promoter region in cases of premature ovarian failure (POF) and primary amenorrhea (PA).

GGN

primary amenorrhea


Input: Furthermore, IRF4-deficient mice were protected from T cell-dependent chronic intestinal inflammation in trinitrobenzene sulfonic acid-and oxazolone-induced colitis.

inflammation


Input: JPH203, an L-type amino acid transporter 1-selective compound, induces apoptosis of YD-38 human oral cancer cells.

L-type amino acid transporter 1

oral cancer


Input: The mutant, AANAT knocked down C57BL/6J mice displayed significantly longer times of immobility (" depression ").

AANAT

depression

AANAT

depression


Input: Little is known on the immune response after neoadjuvant chemotherapy (NACT) in gastric cancer (GC).

NACT

gastric cancer


Input: T2-and T1-lesion volumes (LVs) and brain atrophy measures [fractions of brain parenchyma (BPF), gray matter (GMF), and white matter (WMF)] were calculated.

GMF

brain atrophy


Input: Subjects with leukocyte adhesion deficiency-1 (LAD-I) do not express beta2 integrins because of mutations in the gene specifying the beta2 subunit, and they suffer recurrent bacterial infections.

leukocyte adhesion deficiency


Input: Circulating sex hormone-binding globulin levels are inversely associated with insulin resistance, but whether these levels can predict the risk of developing type 2 diabetes is uncertain.

sex hormone-binding globulin

insulin resistance


Input: This case suggests that the IGH/BCL3 translocation may help to define a new clinicopathologic entity.

translocation


Input: The results indicate that mutations in TPM2 may cause nemaline myopathy as well as cap disease with a dominant mode of inheritance.

cap disease

cap disease


Input: Consecutive patients with >/= 50% carotid stenosis, whether symptomatic (with ipsilateral ischemic events) or asymptomatic, who were evaluated and followed in a neurovascular clinic were tested for plasma levels of homocysteine, C677T mutation in methylenetetrahydrofolate reductase, G20210A mutation of factor II, factor V Leiden, antiphospholipid antibodies, and polymorphisms of platelet membrane GP: human platelet antigen (HPA)-1, GP Ia (C807T), and GP Ib (variable number of tandem repeats, Kozak, and HPA-2).

GP Ia

carotid stenosis


Input: Polymorphisms in ADCY8 and ADCY5 and within a lincRNA are associated with an alcohol-dependent phenotype in females, which is distinguished by comorbid signs of depression.

depression

depression


Input: Using coimmunoprecipitation and fluorescence resonance energy transfer analysis, we found that the N-terminal domain of hypermethylated in cancer 1 interacts with the proximal set of zinc fingers of ecotropic viral integration site 1.

viral integration site 1

cancer


Input: As expected, a progressive increase of mutant allele burden was observed from essential thrombocythemia (ET) to polycythemia vera (PV) and primary myelofibrosis (PMF) to secondary myelofibrosis (SMF).

SMF

essential thrombocythemia


Input: The polymorphic glutathione S-transferase (GST), N-acetyltransferase (NAT), and cytochrome P450 (CYP) enzymes are of particular interest in prostate cancer susceptibility because of their ability to metabolize both endogenous and exogenous compounds, including dietary constituents.

NAT

prostate cancer susceptibility


Input: In study B we tested (in blind fashion) 89 recoded sample sera or standards that were part of the larger group used in the Second International GAD Antibody Workshop, finding GAD65 autoantibodies in 3. 3% of healthy control subjects (1/30), 60% of IDDM patients (18/30), 100% of ICA + nondiabetic subjects (3/3) but in none of 4 nondiabetic patients with Graves disease.

blind


Input: Suppression of NF-kappaB activity in PC-3 cells by a mutant IkappaBalpha super-repressor adenoviral vector decreased the CXCR4 mRNA expression and inhibited adhesion and TEM.

IkappaBalpha

adhesion


Input: A comprehensive statistical analysis suggested the set of 19 gene markers, ANKRD28, BHLHE40, CGGBP1, RBSP3, EPHB1, FGD5, FOXP1, GORASP1/TTC21, IQSEC1, ITGA9, LOC285375, LRRC3B, LRRN1, MITF, NKIRAS1/RPL15, TRH, UBE2E2, VHL, WNT7A, to allow early detection, tumor progression, metastases and to discriminate between SCC and ADC with sensitivity and specificity of 80-100%.

metastases


Input: We found mutations of VPS13A, VPS13B, VPS13C, VPS33A, VPS35, VPS37B, VPS41, and VPS54 in 9, 3, 12, 3, 5, 9, 2, and 2 cancers, respectively, all in cancers with high microsatellite instability.

cancers


Input: Reduction of EphA2 phosphorylation by LCA may represent a novel approach for future anti-apoptotic treatment of heart failure and atrial fibrillation.

atrial fibrillation


Input: Analysis of tissue arrays of human melanoma samples suggests that ERBB3 signaling may also contribute to metastatic progression of melanoma as ERBB3 was phosphorylated in primary tumors compared with nevi or metastatic lesions.

nevi


Input: VEGF and hypoxia increased Ets-1 expression in cultured bovine retinal endothelial cells.

hypoxia


Input: Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

cone-rod homeobox

cone-rod dystrophy

cone-rod homeobox

cone-rod dystrophy


Input: We studied gene variants of Tachykinin Receptor 1 (TACR1-rs3771810, rs3771825, rs726506, rs1477157) in 167 German suicide attempters (affective spectrum n = 107, schizophrenia spectrum n = 35, borderline personality disorder n = 25), 92 Caucasian individuals who committed suicide and 312 German healthy subjects.

personality disorder


Input: These results suggest that alterations of the BRCA1 and BRCA2 genes are not common pathogenetic events in the development of sporadic meningiomas.

BRCA2 genes

sporadic


Input: 143B-LacZ-X7-HA cells co-expressing CXCR7 and CXCR4 exhibited CXCL12 scavenging and enhanced adhesion to IL-1β-activated HUVEC cells compared to 143B-LacZ cells expressing CXCR4 alone.

adhesion


Input: By treating human NT-2 cells with heat-shock stress, we found that both the mRNA levels for prion protein (PrP) and heat shock protein 70 (HSP70) increased simultaneously after heat treatment.

shock


Input: Therefore, this study defines the specific interplay between the cellular transactivator Brn-3a, the environmental smoking-related substance nicotine and specific HPV variants in cervical carcinogenesis, and thus helps to explain why some women are susceptible to rapid CIN progression and cancer and others are not.

CIN

CIN


Input: We studied three polymorphisms of the factor VII gene, 5' FT, IVS7, and R353Q polymorphisms, for 493 Japanese subjects consisting of 285 subjects without clinical evidence of ischemic heart disease (non-IHD group) and 208 myocardial infarction patients (myocardial infarction group).

factor VII

ischemic heart disease


Input: Additional studies will examine whether glyoxalase-I has an impact beyond that of a biomarker to predict the genetic predisposition to anxiety-and depression-like behavior.

glyoxalase-I

depression

glyoxalase-I

depression


Input: Exome sequencing revealed a homozygous nonsense variant (c. 478C & gt; T, p. [Arg160 *]) in the FAM92A gene within the mapped region on 8q21. 13-q24. 12 that segregated with the PAPA phenotype.

PAPA

PAPA


Input: In the adjusted model, the hazard ratios for celiac disease autoimmunity were 2. 09 (95% confidence interval [CI], 1. 70 to 2. 56) among heterozygotes and 5. 70 (95% CI, 4. 66 to 6. 97) among homozygotes, as compared with children who had the lowest-risk genotypes (DR4-DQ8 heterozygotes or homozygotes).

celiac disease


Input: These functional observations were strengthened by genetic evidence: somatic loss-of-function mutations in PPARG, encoding PPARgamma, in sporadic colorectal carcinomas and somatic translocation of PAX8 and PPARG in follicular thyroid carcinoma.

PPARG

translocation


Input: Targeting phospholipase D1 attenuates intestinal tumorigenesis by controlling β-catenin signaling in cancer-initiating cells.

phospholipase D1

tumorigenesis


Input: To examine the potential role of STK15 in ovarian tumorigenesis, its mRNA and protein expression status were examined in cells grown in culture from 15 ovarian cancer specimens using semiquantitative RT-PCR and Western blot analysis.

tumorigenesis


Input: Meta-analysis was performed for 17 genetic polymorphisms: apolipoprotein E (ε2, ε3, ε4), methylenetetrahydrofolate reductase (MTHFR) (rs1801133), coagulation factor II (rs1799963]), coagulation factor V (rs6025), coagulation factor VII (rs5742910/rs6046), interleukin-6 (IL-6) (rs1800795), endothelial nitric oxide (rs1800779/rs1799983/rs3918226), fibrinogen β-polypeptide (rs1800790), plasminogen activator inhibitor 1 (rs1799768/rs7242), TNF-β lymphotoxin α precursor (rs1041981), adducin 1 (α) (rs4961), ADRB2 (rs1042714), and tumour necrosis factor α (rs1800629).

coagulation factor II

fibrinogen


Input: TA was detected in all HCC tissues compared with 15. 6% of chronic hepatitis (P < 0. 001) and none of controls (P < 0. 001).

HCC

chronic hepatitis


Input: Surprisingly, in lung adenomas Cx32 and Cx43 expressions were not detected, although the expression of connexins 26 and 46 was present.

adenomas

adenomas


Input: In sarcoidosis, IFN-gamma producing cells are CD4 T cells and are associated with IL-1 beta gene expressing monocytic cells.

sarcoidosis


Input: After transfection with effective Mta1 gene siRNA, the effects on proliferation, anoikis, migration, invasion and adhesion of A2780 cells were tested by MTT assay, flow cytometry, wound-healing assay, Transwell assay and adhesion assay.

Mta1 gene

adhesion


Input: Significant genetic correlations existed between LVM and SV after adjusting for age, sex, race, field center, systolic blood pressure, number of antihypertensive medications, and body mass index (rhog = 0. 93 in African-Americans and 0. 70 in Caucasians; both P < 0. 0001).

rhog

systolic blood pressure


Input: Our study supported that certain HLA-DP alleles in concert with HPV16 could have a predisposition for cervical cancer development, which may be translated for triage of hrHPV-positive women.

HLA-DP

cervical cancer


Input: UMOD, SHROOM3, STC1, LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2/SH2B3, DACH1, UBE2Q2, and SLC7A9 were uncovered as loci associated with estimated glomerular filtration rate (eGFR) and CKD, and CUBN as a locus for albuminuria in cross-sectional data of general population studies.

albuminuria


Input: We screened the HSD3B2 gene for mutations in girls with premature pubarche and a hormonal diagnosis of 3beta-hydroxysteroid dehydrogenase deficiency.

3beta-hydroxysteroid dehydrogenase deficiency

3beta-hydroxysteroid dehydrogenase deficiency


Input: Analogous to EBV-associated lymphoproliferative disorders in immunocompromised humans, the human lymphomas in these HCC xenografts likely developed from reactivation of latent EBV in intratumoral passenger B lymphocytes following their xenotransplantation into immunodeficient recipient mice.

HCC

lymphomas


Input: Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.

megalencephaly

megalencephaly


Input: As an approach for HCC therapy, suicide gene therapy using ganciclovir (GCV) with transfer of the herpes thymidine kinase (HSVtk) gene was tested.

HCC

herpes


Input: Variation in DNAH1 may contribute to primary ciliary dyskinesia.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: Renal AM level and its mRNA expression were increased in rats with GN compared with controls (Peptide Cortex: + 69%; Medulla: + 82%; mRNA Cortex: + 25%).

AM

GN

AM

GN


Input: NQO1 activity was determined in cytosol from normal, APAP and PBC liver specimens.

liver

liver


Input: The exact biological role of TNAP in the human brain is still not known and the pathophysiology of neurological symptoms due to TNAP deficiency in HPP is not understood in detail.

TNAP

neurological symptoms


Input: The fourth OS patient had a recessive mutation in PIGQ that led to exon skipping and defective glycophosphatidyl inositol biosynthesis.

PIGQ

OS

PIGQ

OS


Input: Human HCC cells (MHCC97L, BEL-7404) were infected with adenovirus-expressing PPARγ (Ad-PPARγ) or Ad-lacZ and treated with or without PPARγ agonist (rosiglitazone).

HCC

adenovirus


Input: Positive p53 staining correlates with the presence of TP53 hotspot mutations in both BRCA1-related and sporadic breast tumors.

sporadic


Input: We generated a transgenic mouse with conditional, cardiomyocyte-specific NOS1 overexpression (double-transgenic [DT]) and studied cardiac remodeling, myocardial Ca (2 +) handling, and contractility in DT and control mice subjected to transverse aortic constriction (TAC).

constriction


Input: The expressions of STEAP4, TNFα, and IL-6 were compared in synovia of RA and osteoarthritis patients.

osteoarthritis


Input: KRS mutations produce truncated forms of ATP13A2 with impaired protein stability resulting in a loss-of-function.

KRS

KRS


Input: Moreover, suppression of Jumonji domain containing 1A expression in hepatocellular carcinoma cell lines under hypoxic conditions reduced cell growth inhibition, reduced invasion ability, and arrested epithelial-mesenchymal transitions.

Jumonji

hypoxic


Input: We report 2 novel, cryptic chromosomal abnormalities in precursor B-cell acute lymphoblastic leukemia (BCP-ALL): a translocation, either t (X; 14) (p22; q32) or t (Y; 14) (p11; q32), in 33 patients and an interstitial deletion, either del (X) (p22. 33p22. 33) or del (Y) (p11. 32p11. 32), in 64 patients, involving the pseudoautosomal region (PAR1) of the sex chromosomes.

BCP

translocation


Input: Gender-specific genetic associations of polymorphisms in ACE, AKR1C2, FTO and MMP2 with weight gain over a 10-year period.

ACE

weight gain

ACE

weight gain


Input: Methylation of the promoter regions of p16 and CDH13 in both tumor and mediastinal lymph nodes was associated with an odds ratio of recurrent cancer of 15. 50 in the original cohort and an odds ratio of 25. 25 when the original cohort was combined with an independent validation cohort of 20 patients with stage I NSCLC.

recurrent cancer


Input: Here, we have investigated the consequences of Dusp1-deficiency in colon ascendens stent peritonitis (CASP) and caecal ligation and puncture (CLP), two mouse models of septic peritonitis.

CLP

peritonitis


Input: Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

leber congenital amaurosis

leber congenital amaurosis


Input: CIN is sustained by deficiencies in proteins, such as the tumor suppressor p53 [3-5], that police genome integrity, but the primary cause of CIN in sporadic cancers remains uncertain [6, 7].

tumor suppressor p53

sporadic


Input: A single immunoreactive band at 50 kd was detected with Csk antibody in normal liver (NL), chronic hepatitis (CH), and nontumorous cirrhotic (NTC) segments of HCC of patients and LEC rats.

HCC

chronic hepatitis


Input: On the other hand, in the CA1 region where cell death occurs in this model, ARF4L mRNA was slightly detected from 1 to 2 days after ischemia but was absent after 3 days.

ischemia


Input: Recent reports have suggested that ARP is mutated in a high percentage of different human tumors.

ARP

tumors


Input: Among patients with the CYP2C19 PM phenotype, sufficient, sustained reflux symptom relief was higher with omeprazole than with rabeprazole on days 4-7 (62. 5-66. 9 vs. 31. 6%; p ≤ 0. 03); differences were not significant on days 1-3, or among those with the homoEM or heteroEM phenotypes on days 1-7.

reflux


Input: Sequencing of exon 9 of SH3BP2 was normal in all sporadic nonsyndromic giant cell lesions.

sporadic


Input: CD47 function-blocking antibodies inhibit proliferation of untreated U87 and U373 cells but not normal astrocytes, suggesting that CD47 may be constitutively activated in astrocytoma.

astrocytoma


Input: Similarly, we recently discovered that genetic variation in components of the stress-related hypothalamic pituitary adrenocortical axis, T-box 19 and corticotropin releasing hormone receptor 1, showed association and linkage to high anger/hostility in and male depression the suicidal offspring, respectively.

T-box 19

depression

T-box 19

depression


Input: CES2, ABCG2, TS and Topo-I primary and synchronous metastasis expression and clinical outcome in metastatic colorectal cancer patients treated with first-line FOLFIRI regimen.

metastasis


Input: As an outcome of the translocation, an evolutionarily conserved non-coding VISTA enhancer element from 13q21. 31 is placed within the TRPS1 5' region, 1, 294 bp from the breakpoint.

VISTA

translocation


Input: Imatinib resistant chronic myelogenous leukemia, BCR-ABL positive by chromosome and FISH analyses but negative by PCR, in a child progressing to acute basophilic leukemia: cytogenetic follow-up.

FISH

acute basophilic leukemia


Input: Pancreatic blood flow (PBF), plasma lipase, interleukin-1beta (IL-1beta), interleukin-10, pancreatic cells proliferation and morphological signs of pancreatitis were determined.

PBF

pancreatitis


Input: The aim of the study was to map the amplified 8p12-p11 region in a large set of breast tumors in an effort to identify the genetic driver and to explore its impact on tumor progression and prognosis.

tumor progression


Input: We examined the expression of NRP-1 mRNA and EGF-R protein in seven human gastric cancer cell lines.

NRP

gastric cancer


Input: A novel mutation (p. T605G) within the uromodulin GPI anchor signal segment was identified in the affected individuals of this FJHN family.

uromodulin

FJHN

uromodulin

FJHN


Input: We hypothesize that differences in the expression of selected tumor suppressor genes, cell surface adhesion molecules, and multidrug resistance glycoproteins could account for some of the reported differences between uterine serous carcinoma (USC) and extrauterine serous carcinomas (ESC), including ovarian and primary peritoneal carcinoma (OSC and PSC, respectively).

OSC

carcinomas


Input: This is the first clinically, biochemically, and genetically identified child case of spinal stenosis and paraparesis associated with PHP-Ia, having a novel GNAS mutation in Korea.

GNAS

paraparesis


Input: Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

UTR

frontotemporal lobar degeneration


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

bipolar disorder

bipolar disorder


Input: The loss of anchorage-independent growth is associated with increased anoikis and defects in AKT and extracellular signal-regulated kinase activation upon loss of adhesion.

AKT

adhesion


Input: Ala139 Thr mutation of the GPIX gene in this patient is a novel missense mutation, which has not been reported in BSS.

GPIX

BSS

GPIX

BSS


Input: The cyclin E-cyclin-dependent kinase 2 (CDK2) complex accelerates entry into the S phase of the cell cycle and promotes polyploidy, which may contribute to genomic instability in cancer cells.

cyclin E

genomic instability


Input: Loss-of-function mutations in PALB2 are an important cause of hereditary breast cancer, with respect both to the frequency of cancer-predisposing mutations and to the risk associated with them.

hereditary breast cancer

hereditary breast cancer


Input: Using cell culture model systems, we found that Emi1 overexpression leads to proliferation, tetraploidy and genome instability of cells deficient for p53.

genome instability


Input: Within the largest contributing cohort of our analysis, lung function, as assessed by forced expiratory volume at 1 second, varied significantly by FTO genotype.

FTO

forced expiratory volume


Input: Our results define a key effect of PIK3CA (H1047R) on mammary cell fate in the pre-neoplastic mammary gland and show that the cell of origin of PIK3CA (H1047R) tumours dictates their malignancy, thus revealing a mechanism underlying tumour heterogeneity and aggressiveness.

aggressiveness


Input: In a number of different cancer including endometrial cancers, tumor suppressor phosphatase tensin homologue (PTEN, a lipid phosphatase) is frequently mutated.

tensin

cancer


Input: A diagnosis of BCR-ABL1 (p190)-positive and ETV6-RUNX1-positive B-ALL was made, and treatment was initiated according to the AIEOP-BFM-ALL2000 protocol.

B-ALL

B-ALL


Input: We have shown that the two-hit model requires modification for the APC TSG, because mutant APC proteins probably retain some function and the two hits are co-selected to produce an optimal level of Wnt activation.

TSG

hit


Input: All sporadic and 7/20 hereditary tumors showed p53 gene mutations.

p53 gene

sporadic


Input: In contrast, mice depleted of neutrophils alone or neutrophils and CD4 (+) T cells developed clinical and pathological evidence of pulmonary aspergillosis and increased mortality (P < 0 · 05 compared to non-depleted animals).

pulmonary aspergillosis


Input: This leads to translocation of GRK2, subsequent phosphorylation of the D1-like receptor, its uncoupling from G proteins and loss of responsiveness to agonist stimulation.

translocation


Input: Patients aged > 45 years with significant intracranial stenosis (IC group) or extracranial carotid artery stenosis (EC group) diagnosed by duplex ultrasound and/or computed tomography angiography (CTA) or magnetic resonance angiography (MRA) were studied.

CTA

stenosis


Input: To validate these predictions, we have found that hypoxia and BMP receptor type 2 signaling independently upregulate miR-21 in cultured pulmonary arterial endothelial cells.

hypoxia


Input: Taken together, these data support the idea that ineffective CD40/CD40L interactions determine both abortive germinal center cell reaction as well as severe depletion and phenotypical abnormalities of follicular dendritic cells, thus impairing the functional development of B follicles.

abnormalities


Input: At least some of the beneficial effects of mIGF1 transgene expression were due to mIGF1 counteracting the strong increase in CTGF expression within cardiomyocytes caused by SRF deficiency, resulting in the blockade of fibroblast proliferation and related myocardial fibrosis.

CTGF

myocardial fibrosis


Input: Fourteen of 48 UMs and three of 14 cell lines (over-) express EGFR, at least in part due to trisomy of the EGFR locus on chromosome 7p12.

EGFR

trisomy


Input: The CSD helped in recovery of body weight, enhanced oxidative stress, and increased levels of a muscle impairment marker, creatine phosphokinase (CPK) induced by ALDH2 * 2.

CPK

body weight


Input: Therefore, these CASP8 and CASP10 polymorphisms may be biomarkers for susceptibility to CM.

CM

CM


Input: The loss of PIN1 deregulates cyclin E and sensitizes mouse embryo fibroblasts to genomic instability.

cyclin E

genomic instability


Input: We investigated whether targeting of HIF-1 using chetomin, a disrupter of the interaction of HIF-1 with the transcriptional coactivator p300, influences the radiosensitivity of hypoxic HT 1080 human fibrosarcoma cells.

fibrosarcoma


Input: To elucidate their roles in dioxin-induced teratogenesis, we compared Cyp1a1 (-/-), Cyp1a2 (-/-), and Cyp1b1 (-/-) knock-out mice with Cyp1 (+/+) wild-type mice.

teratogenesis


Input: Real-time reverse transcriptase-polymerase chain reaction was performed to observe rhoA and rhoC in esophageal cell lines.

rhoC

esophageal


Input: Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.

FISH

developmental delay


Input: To examine the frequency of TLR4 C1196T genotypes in postmenopausal osteoporotic and non-osteoporotic Polish women and to investigate the possible relationship between C1196T polymorphism, bone mineral density (BMD) and the incidence of osteoporotic fractures in this group of patients.

bone mineral density


Input: In this study we established a novel animal model of acute respiratory distress syndrome caused by the dysfunction of alveolar epithelial type II (AE2) cells and examined the roles of alveolar macrophages in the acute lung injury.

acute respiratory distress syndrome


Input: The expression of Egr-1, c-fos and cyclin D1 varies in esophageal precancerous lesions and cancer tissues, suggesting an involvement of these genes in the development of esophageal carcinoma.

cyclin D1

esophageal


Input: These findings suggest that the mutant MLH1 3'-UTR can cause a severely reduced/defective MMR activity conferring leukemia relapse, likely by down-regulating MLH1 expression at the mRNA level.

MMR

leukemia relapse


Input: We now report a novel mutation in PRKAG2 causing Wolff-Parkinson-White syndrome and conduction system disease with onset in childhood and the absence of cardiac hypertrophy.

cardiac hypertrophy


Input: This study was designed to evaluate serum HCV-RNA, liver histology, and RIBA-II pattern in asymptomatic anti-HCV positive subjects with persistently normal or slightly (i. e.

RIBA

asymptomatic


Input: In contrast, SMC (15) without euchromatin were found to have no influence on the carrier' s phenotype but were detected with a high incidence among infertile males.

SMC

infertile


Input: The insulin sensitivity (S (I)) for TRO and PLA increased from baseline to 24 months by 17% and 16%, respectively.

TRO

insulin sensitivity


Input: The 5-year disease-free survival was 52% for each group (P =. 91); the overall survival was 74% for BRCA2 carriers and 75% for sporadic cases (P =. 50).

sporadic


Input: One patient had a 3beta-hydroxysteroid dehydrogenase deficiency, and one patient carried no CYP21 mutations.

3beta-hydroxysteroid dehydrogenase deficiency


Input: Nephroblastoma overexpressed gene (NOV) is highly expressed in the nervous system.

NOV

nervous system


Input: FOXA1 modulates EAF2 regulation of AR transcriptional activity, cell proliferation, and migration in prostate cancer cells.

prostate cancer


Input: The tumors had a high degree of cellular atypia and differed from sporadic ALT/WDLS by strong nuclear immunoreactivity for p53 and absent mdm2 expression.

sporadic


Input: In most of patients, TCIRG1, encoding a subunit of a proton pump essential for bone resorption, is mutated.

bone resorption


Input: Cathepsin K is involved in development of psoriasis-like skin lesions through TLR-dependent Th17 activation.

Cathepsin K

psoriasis


Input: Analysis of DIXDC1 in over 9000 cases of autism, bipolar disorder and schizophrenia reveals higher rates of rare inherited sequence-disrupting single-nucleotide variants (SNVs) in these individuals compared with psychiatrically unaffected controls.

autism

autism


Input: CTL escape and increased viremia irrespective of HIV-specific CD4 + T-helper responses in two HIV-infected individuals.

viremia


Input: We report a novel missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD) gene of affected members of a Japanese kindred segregating familial amyotrophic lateral sclerosis (FALS) through at least three successive generations.

SOD

FALS

SOD

FALS


Input: X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child.

X-linked myotubular myopathy

X-linked myotubular myopathy


Input: A patient experiencing impotence was found to have increased prolactin and low testosterone concentrations.

prolactin

impotence

prolactin

impotence


Input: Induced PDI expression in HL1 cells conferred protection from hypoxia-induced apoptosis.

PDI

hypoxia


Input: Unsupervised cluster data analysis of both hereditary and sporadic cases using the complete set of immunohistochemical markers demonstrated that most BRCA1-associated carcinomas grouped in a branch of ER-, HER2-negative tumors that expressed basal cell markers and/or p53 and had higher expression of activated caspase 3.

sporadic


Input: Our data in the present study, combing our previous report, suggested that in the endogenous formaldehyde-induced pain in bone cancer pain rats, LSD1 in metastasized cancer cells contributed to the production of the endogenous formaldehyde.

cancer pain