Input: This disorder, characterized by a typical MRI pattern and a progressive spastic paraplegia that may be associated with dementia and ataxia, may have an onset in early childhood and probably is one of the more common forms of complicated HSP.

MRI

progressive spastic paraplegia


Input: Over twenty different mutations in the Ca2 +-release channel are associated with susceptibility to the pharmacogenetic disorder malignant hyperthermia.

malignant hyperthermia


Input: We genotyped four single nucleotide polymorphisms (SNPs) in HLA-DP (rs3077 and rs9277535) and HLA-DQ (rs2856718 and rs7453920) in a two-stage case-control study with a total of 2317 cervical cancer cases and 2109 cancer-free controls using TaqMan allelic discrimination assay.

HLA-DP

cervical cancer


Input: Intravenous administration of superoxide dismutase (5 mg/kg), catalase (5 mg/kg) and mannitol (200 mg/kg) protected the mice against pulmonary thromboembolism.

catalase

pulmonary thromboembolism

catalase

pulmonary thromboembolism


Input: The objective of this study was to assess the relationship between polymorphisms in LRRFIP1 gene and adiposity (BMI, fat mass (FM), waist circumference (WC), and computed tomography-derived areas of total, subcutaneous and visceral abdominal adipose tissue) and markers of inflammation (C-reactive protein (CRP) and interleukin-6 (IL-6)).

LRRFIP1 gene

inflammation


Input: APOER2 gene expression analysis revealed lower transcript levels in lymphoblastoid cells from cognitively impaired schizophrenia patients of the alternatively spliced exon 19, mediating Reelin signaling and synaptic plasticity in the adult brain.

schizophrenia

schizophrenia


Input: Placental growth factor messenger ribonucleic acid expression was 26. 6-fold greater in a mouse AMI model than in sham-operated mice, and PlGF was expressed mainly in endothelial cells within the infarct region.

PlGF

infarct


Input: We report that constitutive expression of the microsomal prostaglandin E synthase-1 (mPGES-1) is associated with increased prostaglandin E (2) (PGE (2)) production and stimulation of growth in the human astroglioma cell line U87-MG compared with human primary astrocytes.

astroglioma


Input: Hepatitis B surface antigen (HBsAg), proliferating cell nuclear antigen (PCNA) and glutathione S-transferases (GST-pi) were detected by immunohistochemical staining and HBV DNA was detected by in situ hybridization (ISH) in formalin-fixed and paraffin-embedded sections with a total of 111 specimens of chronic hepatitis, liver cirrhosis, paratumorous tissue, HCC and normal liver tissue.

HCC

chronic hepatitis


Input: The current findings indicated that differential expression of adhesion and ECM molecules, such as CD166, versican, perlecan, and Col4A2, may interfere with cartilaginous differentiation.

adhesion


Input: The role of STAT3 activation in ESFT pathogenesis seems to be independent of the type of EWS/Ets translocation.

EWS

translocation


Input: For treatment of a posttraumatic intramural jejunal haematoma with extension into the mesenterium the patient received continuous infusion (CI) of a high purity F VIII concentrate, starting with an initial bolus injection of 100 IU F VIII/kg bw and followed by 4-5 IU F VIII/kg bw/h i. v.

VIII

haematoma


Input: As roles for 5-HT7 receptors in anxiety and depression were recently established, the current findings have implications for understanding the high anxiety and depressive-like phenotype of SERT-deficient mice.

depression

depression


Input: Cold-inducible RNA-binding protein (CIRP) is a newly discovered proinflammatory mediator that can be released into the circulation during hemorrhage or septic shock.

CIRP

septic shock


Input: In MCF-7 breast cancer cells Gab2 was markedly tyrosine phosphorylated in response to heregulin and also following EGF, insulin or bFGF administration, indicating that a variety of RTKs implicated in breast cancer development or progression couple to this docking protein.

docking protein

breast cancer


Input: Common human Toll-like receptor 9 polymorphisms and haplotypes: association with atopy and functional relevance.

Toll-like receptor 9

atopy


Input: FSH receptor genotyping may, thus, be interesting as an adjunct indicator of ovarian reserve for infertile women undergoing assisted reproduction, and may be helpful in the determination of the starting dosage of FSH in in vitro fertilization.

FSH receptor

infertile


Input: The relationship between programmed cell death (apoptosis), cell proliferation, and apoptosis regulatory genes (p53 and bcl-2), was studied in normal colonic epithelium, 26 sporadic adenomas both early and late, 25 FAP adenomas, and 34 carcinomas.

sporadic


Input: POLG mutations cause a potentially painful, axonal/mixed, mainly sensory polyneuropathy; TYMP mutations lead to a demyelinating sensory-motor polyneuropathy; SURF1 mutations are associated with a demyelinating/mixed sensory-motor polyneuropathy.

TYMP

painful


Input: These observations suggest that MIS regulates androgen-induced gene expression and growth in prostate cancer cells through a NFkappaB-dependent but Smad1-independent mechanism.

prostate cancer


Input: As a result, 99 genes were listed as the differentially expressed genes in major depression, of which several genes such as FGFR1, NCAM1, and CAMK2A were of interest.

major depression

major depression


Input: cIAP2 was positive in all MALT-lymphoma, over 90% of precursor B-cell LBL (94%), most BL (75%), LPL/WM (71%), and SLL/CLL (67%), and approximately 40% to 60% of follicular lymphoma, myeloma, and DLBCL.

LPL

follicular lymphoma


Input: In this study we addressed the role of the nuclear factor (NF)-kappaB1/p50 subunit in chronic injury of the liver by determining the inflammatory and fibrotic responses of nfkappab1-null mice in an experimental model that mimics chronic liver disease.

chronic liver disease


Input: Embryonic form of smooth muscle myosin heavy chain (SMemb/MHC-B) in gastrointestinal stromal tumor and interstitial cells of Cajal.

smooth muscle myosin heavy chain

gastrointestinal stromal tumor


Input: HMGA1 staining was not detected in normal ovarian surface epithelium, which is the area from which ovarian adenocarcinoma frequently arises.

ovarian adenocarcinoma


Input: Conversely, DNA hypomethylation has been associated with distal colon cancer (CLC).

CLC

colon cancer


Input: Using the cell-based reporter assay, we identified several oncogenic pathways modulated by sulforaphane in hypoxia by activating anticancer responses (p53, ARE, IRF-1, Pax-6 and XRE) and suppressing responses supporting tumor progression (AP-1 and HIF-1).

hypoxia


Input: Vascular endothelial growth factor (VEGF), which is induced by hypoxia or cytokines, plays a critical role in the abnormal growth of blood vessels.

VEGF

abnormal growth


Input: Multiple secreted proteins of A549 cells were identified in this study and the overexpression of ENO1 and PEBP in NSCLC was revealed for the first time.

NSCLC

NSCLC


Input: Excessive erythrocytosis, caused by a lower oxygen saturation and hypoxic ventilatory response and/or ventilatory inefficiency, is the outstanding sign of CMS, and right ventricular enlargement, pulmonary hypertension, and remodeling of pulmonary arterioles are hallmarks of HAPH.

CMS

erythrocytosis


Input: The objective of this study was to first evaluate the developmental abnormalities and carry out the molecular analysis of external genitalia in newborn hypospadiac male rats induced by maternal exposure to di-n-butyl phthalate (DBP).

DBP

abnormalities


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

hypoxia


Input: Reverse transcription polymerase chain reaction of RNA isolated from MPP (+)-treated human neuroblastoma SH-SY5Y cells identified changes in steady-state mRNA levels of the mitochondrial transcript for subunit 4 of complex I (ND4).

neuroblastoma


Input: Polymorphisms in a putative promoter region of ORMDL3, which are associated with childhood asthma, alter transcriptional regulation of ORMDL3, correlate with changes in TH2 cytokines levels, and therefore might contribute to the childhood asthma susceptibility signal from 17q21.

asthma susceptibility


Input: There were independent effects of p22phox polymorphism on body mass index (BMI), neck circumference (NC), waist-to-hip ratio (WHR) in the OSAHS group, and the carriers of the T allele of p22phox polymorphism had greater NC, WHR, systolic blood pressure (SBP), diastolic blood pressure (DBP) and apnea-hypopnea index (AHI) (P < 0. 05), but the carriers of the T allele had lower SOD (P < 0. 01) and lowest SaO (2) (P = 0. 04).

DBP

systolic blood pressure


Input: We demonstrate that expression of RIOK3 (RIght Open reading frame kinase 3) was increased during hypoxic exposure in an HIF1α-dependent manner.

hypoxic


Input: Therefore, targeted sequencing of the polymerase genes POLD1, POLD2, POLD3, POLD4, POLE, POLE2, POLE3 and POLE4 was performed in 266 unrelated patients with polyposis or fulfilled Amsterdam criteria.

polyposis


Input: Association testing was performed for physician-diagnosed asthma before the 7th birthday (asthma) using genotypes from 6, 500 individuals from the Exome Sequencing Project (ESP) as controls to gain statistical power.

ESP

asthma


Input: Our findings suggest that UCP2 has a unique role in energy balance, body weight regulation and thermoregulation and their responses to inflammatory stimuli.

body weight


Input: We demonstrated that BCR-ABL1-positive MVs could initiate malignant transformation of normal hematopoietic transplants through genomic instability, which might serve as a convenient and operable model for investigating leukemogenesis, especially for DCL.

BCR

genomic instability


Input: To determine the frequency of SPG10 in European families with HSP and to specify the SPG10 phenotype.


Input: The identification of the alpha 1-antitrypsin deficiency state as the cause of a distinct type of panniculitis adds additional evidence for the elimination of the term Weber-Christian disease.

alpha 1-antitrypsin

Weber-Christian disease

alpha 1-antitrypsin

Weber-Christian disease


Input: Pre-diagnostic smoking behaviour and poorer prognosis in a German breast cancer patient cohort-Differential effects by tumour subtype, NAT2 status, BMI and alcohol intake.

smoking


Input: We identified eight PTEN mutations, of which seven were novel, in 13 CD patients.

PTEN

CD

PTEN

CD


Input: Both conditions show great variations during pregnancy that makes pregnancy a suitable condition to detect any metabolic abnormalities related to PPAR-gamma2 polymorphisms.

PPAR

abnormalities


Input: We studied the effects of 8-weeks of intermittent hypoxia exposure on COX-pathway gene expression and atherosclerosis, and the influence of COX-1 inhibition by SC-560 on atherosclerosis progression in aortas of apolipoprotein E (-/-) mice.

COX

hypoxia


Input: The most recent studies also suggest that neutrophil dysfunction additionally contributes to the increased susceptibility to lung infections seen in PAP.

PAP

neutrophil dysfunction


Input: Employing criteria previously established for EGFR copy number, patients with IGF1R amplification/high polysomy (n = 48; 27%) had 3-year survival of 58%, patients with low polysomy (n = 87; 48%) had 3-year survival of 47% and patients with trisomy/disomy (n = 46; 25%) had 3-year survival of 35%, respectively (P =. 024).

EGFR

trisomy


Input: We have investigated two kindreds with AHC and HHG for DAX1 mutations.

AHC

AHC


Input: A pathogenic mutation for probable Alzheimer' s disease in the APP gene at the N-terminus of beta-amyloid.

APP

Alzheimer' s disease

APP

Alzheimer' s disease


Input: G protein-activated K + channel 2 (GIRK2) and cAMP-response element binding protein (CREB1) are involved in synaptic plasticity and their genes have been implicated depression and memory processing.

depression

depression


Input: CONCLUSIONS: Taken together, our data indicate that S-nitrosylation of parkin, leading to p53-mediated neuronal cell death, contributes to the pathophysiology of sporadic PD.

sporadic


Input: In the postmenopausal groups, we observed a sixfold increase in the CALD1 gene expression in POP patients compared to asymptomatic controls (P = 0. 03).

CALD1 gene

asymptomatic


Input: Colorectal cancer risk associated with active smoking was elevated after accumulation of 30 (+) pack-years of smoking [odds ratio (OR), 1. 4; 95% confidence interval (95% CI), 0. 9-2. 2] but not significantly modified by either NAT1 or NAT2 genotype.

smoking


Input: Gene aberrations include translocation t (15, 19) (q13, p13. 1) fusion oncogene BRD4-NUT, DNA repair genes (ERCC1, ERCC2, XRCC1), TGFβ1 pathway activation genes (TGFB1, LTBP4), Dyrk1B, and potential oncogenesis protector genes such as NFkB pathway inhibition genes (NFKBIB, PPP1R13L) and EGLN2.

translocation


Input: In the present study, the effects of the naturally occurring berberine (the major constituent of Coptis chinensis) on the cell cycle, as well as on CDK1, cyclin B1, 14-3-3sigma, Wee1 and Cdc25c expressions, were investigated in the human promyelocytic leukemia HL-60 cells and in the murine myelomonocytic leukemia WEHI-3 cells.

cyclin B1

myelomonocytic leukemia


Input: In the in-house dataset, HRD was predicted in 5% (20/385) of sporadic tumors luminal or HER2 + by the LST genomic signature and the inactivation of BRCA1, BRCA2 or RAD51C confirmed this prediction in 75% (12/16) of the tested cases.

sporadic


Input: The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, & #946;-tubulin, & #945;-tubulin isotypes 1 and 2, vinculin, vimentin and two Ras-related protein Rab-7b isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from ACS patients compared to CAD patients.

Ras-related protein Rab-7b

ACS

Ras-related protein Rab-7b

ACS


Input: Downregulating TGFBRI expression reduced wound scarring, the extracellular matrix deposition of scar tissue, and decreased CTGF and α-smooth muscle actin mRNA expression in vivo.

smooth muscle actin

scarring


Input: In the present study, we demonstrated a pivotal role of H6PD in proliferation and migratory potential of 3 human breast cancer cell lines.

breast cancer

breast cancer


Input: Effect of the vascular endothelial growth factor receptor-2 antibody DC101 plus gemcitabine on growth, metastasis and angiogenesis of human pancreatic cancer growing orthotopically in nude mice.

vascular endothelial growth factor receptor-2

pancreatic cancer

vascular endothelial growth factor receptor-2

pancreatic cancer


Input: Notably, expression of alpha-2-macroglobulin, transthyretin, alpha-1-antitrypsin, and properdin was in common in different lung tumor models, but regulation of orosomucoid-8, apolipoprotein-A1, apolipoprotein-C3, apolipoprotein-E, glutathione peroxidase-3, plasma retinol-binding protein, and serum amyloid P component was unique when the serum proteomes of c-myc and c-raf tumor bearing mice were compared.

lung tumor

lung tumor


Input: We evaluated 107 subfertile patients, male partners of infertile couples, affected by non-obstructive azoospermia (n = 38) and oligoasthenoteratozoospermia (OAT) (n = 69), and 102 men with proven fertility.

OAT

infertile


Input: Data from these cell studies were further supported by in vivo observations that hypoxic tumor regions contained cells with a higher concentration of CD44 expression.

hypoxic


Input: CDKN1C mutations lead to Beckwith Wiedemann syndrome (BWS, overgrowth syndrome) and in IMAGe syndrome which associates growth retardation and adrenal insufficiency.

growth retardation


Input: Duration of fever at diagnosis of KD was significantly different between patients with Hp 2-2 (6. 4 +/-1. 2 days, n = 25) and with Hp1 allele (Hp 2-1 plus Hp 1-1; 8. 8 +/-3. 5 days, n = 22).

fever


Input: Plant-based oral tolerance to hemophilia therapy employs a complex immune regulatory response including LAP + CD4 + T cells.

hemophilia


Input: These results suggest that VULM1457, as new member of ACAT family of inhibitors could negatively regulate cell proliferation induced by AM, which may correlate with down-regulation of membrane-bound AM receptors on HepG2 cells, and moreover, with the induction and expression of AM in hypoxia.

ACAT

hypoxia


Input: Dominantly acting loss-of-function mutations in the ABCC8/KCNJ11 genes can cause mild medically responsive hyperinsulinaemic hypoglycaemia (HH).

mild


Input: Given the distinct clinical and pathological characteristics, we believe that hematological neoplasms harboring BCR-JAK2 should be included as an additional distinct entity to the current WHO category of " myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR ", and testing for a JAK2 fusion should be pursued in neoplasms with a karyotypic 9p24 abnormality.

PDGFRA

abnormalities


Input: Moreover, significant reductions in Flk1 and GR protein levels were found in postmortem prefrontal cortex samples from schizophrenia subjects.

schizophrenia

schizophrenia


Input: KCNS3 and LHX6 might be useful for characterizing cell-type specific molecular alterations of cortical GABA neurotransmission and for the development of novel treatments targeting PV and/or SST neurons in schizophrenia.

schizophrenia

schizophrenia


Input: Correlation analysis showed that there were negative correlations between pulmonary function parameters and IFN-γ, Th1/Th2, STAT4 protein, and positive correlations between pulmonary function parameters and IL-4, IL-13, IL-4 mRNA, STAT6 protein (P < 0. 01 or P < 0. 05).

pulmonary function


Input: 270 unrelated probands with various forms of retinal degeneration including autosomal dominant and autosomal recessive retinitis pigmentosa (RP), autosomal dominant and autosomal recessive cone-rod dystrophy (CRD), and Leber' s congenital amaurosis (LCA), were screened for mutations in the SP4 gene.

SP4 gene

retinal degeneration


Input: Expression of human HtrA1, HtrA2, HtrA3 and TGF-beta1 genes was examined in ovarian tissue specimens including 19 normal ovaries, 20 benign tumors, 7 borderline tumors, 44 cancers and 8 Krukenberg tumors.

benign tumors


Input: IL-6 blockade reduced CNS inflammation by limiting inflammatory cell proliferation; however, the relative frequencies of CNS leukocyte infiltrates, including the Th1, Th17, and Treg CD4 T cell subsets, were not altered.

inflammation


Input: Moreover, adenovirus-mediated overexpression of recombinant p21 (WAF1/CIP1) in TSU-Pr1 cells result in growth arrest, morphological change to microglia-like cells, and increased alpha-naphthyl acetate esterase activity, all of which are associated with cellular differentiation.

adenovirus


Input: Frequent somatic mutations of the APC and p53 genes in sporadic ampullary carcinomas.

p53 genes

sporadic


Input: In particular, loop regions in SOD1 lose their restraint and become significantly disordered upon dissociation of metal ions and reduction of the disulfide bond.

dissociation


Input: By microsatellite analysis, multiplex ligation-dependent probe amplification, and array comparative genomic hybridization a deletion including the CDKN2A, CDKN2B and CDKN2BAS gene cluster was detected in both twin sisters, encompassing a large region at 9p21. 3 and occurring de novo after the loss of one paternal allele. Patient B is a boy of 7 years when treated for astrocytoma then developing melanoma associated to congenital nevi on the head 10 years later: sequencing and multiplex ligation-dependent probe amplification revealed a normal profile of the CDKN2A/CDKN2B/CDKN2BAS region.

nevi


Input: This inverse association remained even after adjustment for potential mediators including child environmental tobacco smoke exposure, birth size, postnatal weight and height changes, and adult smoking status and alcohol intake (β =-0. 22, 95% confidence interval =-0. 40 to-0. 03 for ever exposed to PTS vs. never exposed using models of log-transformed methylation levels).

PTS

weight


Input: The findings presented in this fetus are compatible with diagnosis of AARRS, expanding the mutational spectrum of limb malformations arising from defects in WNT7A.

AARRS

AARRS


Input: Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology.

follicle-stimulating hormone receptor

ovarian hyperstimulation syndrome

follicle-stimulating hormone receptor

ovarian hyperstimulation syndrome


Input: In familial pulmonary fibrosis, asymptomatic preclinical alveolar inflammation associated with mutation in TERT and telomerase insufficiency can progress to fibrotic lung disease over 2 to 3 decades.

TERT

asymptomatic


Input: Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies.

BRI

parkinsonism


Input: The NEDD4L gene is located on human chromosome 18q21 within several blood pressure quantitative trait loci, including those for familial orthostatic hypotension, essential hypertension, pulse pressure, and systolic blood pressure response to postural challenge.

NEDD4L gene

blood pressure


Input: When re-expressed in cancer cells in which endogenous fak is deleted by Cre-lox-mediated recombination, the RACK1-binding-impaired FAK mutant protein does not support formation of nascent actin adhesion structures as cells spread.

adhesion


Input: This replication effort identified five new SLE susceptibility loci (P & lt; 5 x 10 (-8)): TNIP1 (odds ratio (OR) = 1. 27), PRDM1 (OR = 1. 20), JAZF1 (OR = 1. 20), UHRF1BP1 (OR = 1. 17) and IL10 (OR = 1. 19).

SLE

SLE


Input: In particular, CD5 + B cells which are capable of producing natural antibodies with autoreactive specificities are likely to be important in the development of HCV-associated autoimmunity and lymphoproliferation.

autoimmunity


Input: Furthermore, we found that knockdown of Epha4 also rescues the axonopathy induced by expression of mutant TAR DNA-binding protein 43 (TDP-43), another protein causing familial ALS, and the axonopathy induced by knockdown of survival of motor neuron 1, a model for spinomuscular atrophy.

ALS

ALS


Input: Taken together, this study identifies a novel Akt2-dependent pathway that is activated by hypoxia and promotes tumor resistance via induction of miR-21.

hypoxia


Input: Here, we show that JME mutations, including F229L, do not alter the ability of EFHC1 to colocalize with the centrosome and the mitotic spindle, but act in a dominant-negative manner to impair mitotic spindle organization.

JME

JME


Input: These results indicate that inactivation of C3G by de novo methylation plays an important role in the development of cervical squamous cell carcinoma.

cervical squamous cell carcinoma


Input: In the monoiodoacetic acid-induced arthritis model, anti-FGF8 antibody reduced ECM release into the synovial cavity.

ECM

arthritis


Input: Our results showed that increased number of BDNF Met alleles was associated with increased aggressive behaviour.

BDNF

aggressive behaviour


Input: If a two-hit mutational mechanism is operational, these results suggest that the majority of somatic mutations in adult PKD1 are likely to be missense changes.

hit


Input: Molecular analysis showed chromosomal translocation t (11; 22) (q24; q12) or EWS/FLI-1 rearrangement in the malignant cells of the eye.

EWS

chromosomal translocation


Input: Instead of the conventional gene-specific approach with Sanger sequencing, we used whole-exome sequencing for the genetic diagnosis of this patient with possible Hoyeraal-Hreidarsson syndrome and successfully identified a missense mutation (c. 146C & gt; T, p. Thr49Me) in DKC1.

Hoyeraal-Hreidarsson syndrome

Hoyeraal-Hreidarsson syndrome


Input: A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.

sigma-1 receptor

juvenile amyotrophic lateral sclerosis

sigma-1 receptor

juvenile amyotrophic lateral sclerosis


Input: Protein C, S, antithrombin III, anticardiolipin antibodies and fibrinogen were normal.

antithrombin III

fibrinogen


Input: Monoclonal antibodies to CD11a, CD11b, CD18, and ICAM-1 caused varying degrees of inhibition of neutrophil adhesion.

adhesion


Input: One nodule-in-nodule HCC sample was obtained from a patient to analyze the different expression in well-to moderately differentiated HCC and poorly differentiated HCC using microarray technique.

HCC

nodule


Input: Laminin & #947;-1 was decreased in MV and increased in M. In conclusion, similarities and differences in oxidative stress in the different aortopathies studied including pathologies with aneurysms were found with alterations in SOD, CAT, GPx, GST, and eNOS activity that modify subendothelial basement membrane proteins.

CAT

MV

CAT

MV


Input: To determine whether the M235--> T polymorphism (exon 2) of the angiotensinogen gene is associated with hypertension in elderly patients with isolated systolic hypertension [ISH: systolic blood pressure (SBP) > or = 160 mmHg, diastolic blood pressure (DBP) < 90 mmHg) or systolic-diastolic hypertension (SDH: DBP > or = 90 mmHg, SBP > or = 160 mmHg) compared with normotensive controls (SBP < 160 mmHg, DBP < 90 mmHg).

DBP

systolic blood pressure


Input: LPS induced a dramatic leukopenia at 4 h after challenge, which was blunted in NPY-treated animals by stabilizing granulocyte and T-lymphocyte numbers.

NPY

leukopenia


Input: We analyzed reconstitution characteristics of plasmacytoid dendritic cells (PDCs) and myeloid DCs-1 in 38 HIV-1-infected patients with impaired restoration of CD4 T cell counts despite prolonged suppression of plasma viremia (discordant) and compared them with 42 patients showing good immunological and virological responses following highly active antiretroviral therapy (HAART).

viremia


Input: This observation is likely to relate to the findings that TAL1 and LMO are highly synergistic in T-cell tumorigenesis in double-transgenic mice.

tumorigenesis


Input: Our finding that FOXM1 is upregulated early during oral cancer progression renders FOXM1 an attractive diagnostic biomarker for early cancer detection and its candidate mechanistic targets, CEP55 and HELLS, as indicators of malignant conversion and progression.

oral cancer


Input: Promoter methylation as a common mechanism for inactivating E-cadherin in human salivary gland adenoid cystic carcinoma.

E-cadherin

salivary gland adenoid cystic carcinoma


Input: The results showed that hypoxia upregulated HIF-1α, GPER and α-SMA expression in CAFs, and induced the secretion of Interleukin-6 (IL-6), vascular endothelial growth factor (VEGF) and connective tissue growth factor (CTGF) in CAFs.

CTGF

hypoxia


Input: When we used elevation of either CDT or GGT to detect habitual drinking in ALDH2 (1)/2 (1) and 2 (1)/2 (2) subjects, the sensitivities were 57% and 46%, respectively.

GGT

drinking


Input: These results suggest that SIRT1 reduces neuronal loss in this chronic demyelinating disease model and that this is associated with a reduction in inflammation.

demyelinating disease

demyelinating disease


Input: Purkinje cell protein 4 (PCP4) is a calmodulin (CaM)-binding protein that accelerates calcium association and dissociation with CaM.

dissociation


Input: Inhibiting mda-9/syntenin, using an adenovirus expressing antisense mda-9/syntenin, NF-kappaB, using an adenovirus expressing a mutant super-repressor of IkappaBalpha, or FAK, and using a dominant-negative mutant of FAK (FRNK), blocks melanoma cell migration, anchorage-independent growth, and invasion.

syntenin

adenovirus


Input: In order to clarify whether neutrophil elastase distributes into the brain parenchyma and exacerbates neuronal damage following ischemia, we examined the effects of specific neutrophil elastase inhibitor, ONO-5046, on hippocampal CA1 neuronal death in relation to neutrophil elastase activity in the plasma and its distribution in the brain and to caspase-3/7 activity.

ischemia


Input: Splenic small B-cell lymphoma with IGH/BCL3 translocation.

translocation


Input: In summary, we provide evidence for a mechanism by which ethanol triggers TLR4/TLR2 association contributing to the neuroinflammation and neurodegeneration associated with alcohol abuse.

alcohol abuse

alcohol abuse


Input: Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea.

congenital chloride diarrhea

congenital chloride diarrhea


Input: Each of the BRCA1-associated cancers with Chk2 mutations also contained mutations in p53, whereas the single sporadic cancer with Chk2 mutation was wild-type for p53.

sporadic


Input: The worldwide burden of tuberculosis (TB) remains an enormous problem, and is particularly severe in the admixed South African Coloured (SAC) population residing in the Western Cape.

SAC

tuberculosis


Input: Lysyl oxidase (LOX), a copper-dependent amine oxidase known to function both intracellularly and extracellularly, is implicated in promoting tumor progression and hypoxic metastasis in certain malignancies.

LOX

hypoxic


Input: A meta analysis of six individual studies in which somatostatin was given for acute pancreatitis showed that somatostatin significantly reduces mortality.

somatostatin

pancreatitis

somatostatin

pancreatitis


Input: We hypothesize that subclinical atherosclerosis, measured as coronary artery calcification (CAC), will be extensive in individuals with type 2 diabetes and that its presence depends on both genetic and environmental factors.

CAC

coronary artery calcification


Input: Higher DNMT3a immunopositivity may be associated with oral SCC and alcohol use, whilst lower levels of DNMT1 may be related with smoking habit.

alcohol use


Input: The site of first DM is different between BRCA1-and BRCA2-associated and sporadic BC patients.

sporadic


Input: Chronic alcohol consumption up-regulated the hepatic expression of genes involved in inflammation, fatty acid synthesis, and cholesterol metabolism, including tumor necrosis factor alpha (TNFalpha), liver X receptor alpha (LXRalpha), sterol regulatory element-binding protein (SREBP)-1c, fatty acid synthase, acetyl-coenzyme A carboxylase alpha (ACC), stearoyl-coenzyme A desaturase 1, 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGR), and low-density lipoprotein receptor (LDLR).

LDLR

alcohol consumption


Input: We measured serum anti-UACA antibody titer using ELISA in patients with autoimmune thyroid diseases (Graves' disease, Hashimoto' s thyroiditis, subacute thyroiditis, and silent thyroiditis).

UACA

subacute thyroiditis


Input: We argue that the chromosomal instability and cancer predisposition provoked by BRCA2 inactivation are a consequence of the failure to re-start stalled DNA replication, and to repair DNA double-strand breaks, through error-free pathways that depend on homologous pairing between DNA strands.

chromosomal instability


Input: Interestingly, a similar impairment in microgliosis has been reported in mouse models of prion disease, stroke, and multiple sclerosis, suggesting a critical role for TREM2 in supporting microgliosis in response to pathology in the central nervous system.

prion disease


Input: Furthermore, animals transfused with blood from IVAG-infected macaques drawn 2 weeks after inoculation suffered a more profound and sustained CD4 (+) T-cell loss, persistent plasma viremia, and the development of SAIDS in one animal, indicating that IVAG-passaged SHIVSF33A was pathogenic.

viremia


Input: Mutant mice died 2 to 3 weeks after birth, with clinical signs of CIPO and hyperplasia and hypertrophy of ENCs resulting from increased activity of the PI3K/PTEN-AKT-S6K signaling pathway.

hyperplasia


Input: However, the role of CDK2 in tumorigenesis is controversial.

tumorigenesis


Input: HLA-DPB1 glutamate 69: a genetic marker of beryllium disease.

beryllium disease

beryllium disease


Input: Mutations in a human cardiac Na + channel gene (SCN5A) are responsible for chromosome 3-linked congenital long QT syndrome (LQT3).


Input: In spite of structural and functional similarities between LRRC6 and DNAAF1, another LRR-containing protein involved in the same PCD phenotype, the two proteins are not redundant.

PCD

PCD


Input: In a mouse model of obstructive nephropathy, administration of QLT-0267 inhibited beta-catenin accumulation; suppressed Snail1, alpha-smooth muscle actin, fibronectin, vimentin, and type I and type III collagen expression; and reduced total tissue collagen content.

obstructive nephropathy


Input: Expression of wild-type but not mutant MMP8 in human melanoma cells inhibited growth on soft agar in vitro and tumor formation in vivo, suggesting that wild-type MMP-8 has the ability to inhibit melanoma progression.

melanoma

melanoma


Input: Knockdown of FAM5C by small interfering RNA inhibited the increase in the TNF-α-induced production of ROS, NF-κB activity and expression of these leukocyte adhesion molecule mRNAs, resulting in reduced monocyte adhesion.

NF-κB

adhesion


Input: In 38 patients with biliary carcinoma (gallbladder carcinoma, extra-hepatic and intra-hepatic cholangiocarcinoma and ampullary carcinoma), we measured serum RCAS1 and CA19-9 levels.

gallbladder carcinoma


Input: Here we investigated methylation of the Cripto promoter in mouse germ cells and human germ cell cancer and correlated this with the level of CRIPTO protein expression.

CRIPTO

germ cell cancer


Input: Thus, ATP7A confers resistance to various anticancer agents on cancer cells and might be a good index of drug resistance in clinical colon cancers.

colon cancers

colon cancers


Input: As compared to sporadic patients, BRCA2-associated patients had a significantly higher OR (89% v 50%; P =. 001), a longer PFS (hazard ratio multivariate [HR (mult)] 0. 64; P =. 04) and a prolonged OS (HR (mult), 0. 53; P =. 005) after start of first-line chemotherapy for metastatic breast cancer.

sporadic


Input: Activation of p53 mediated pathways in the glia of HAD patients may contribute to the neuroinflammatory processes that promote neurodegeneration by inhibiting glial proliferation and/or promoting glial cell dysfunction.

HAD

neurodegeneration


Input: We investigated the role of PLK1 in the cell response to CPTs in squamous cell carcinoma (SCC) and pediatric sarcoma cell lines and explored the therapeutic potential of the combination of CPT11 and the PLK1 inhibitor BI2536 in CPT-sensitive and-resistant tumor models.

sarcoma


Input: Taken together, our results clearly demonstrate that NF-κB signalling facilitates BACE1 gene expression and APP processing, and increased BACE1 expression mediated by NF-κB signalling in the brain could be one of the novel molecular mechanisms underlying the development of AD in some sporadic cases.

NF-κB

sporadic


Input: Taken together, these findings suggest that RACK1 and BDNF are part of a regulatory pathway that opposes adaptations that lead to the development of alcohol addiction.

alcohol addiction

alcohol addiction


Input: The discovery of this alternative circuit that regulates ingestive behavior without inducing taste aversion may open the possibility of a therapeutic application of PYY for the treatment of obesity via direct oral application.

PYY

ingestive behavior


Input: Our results indicated that miR-21 expression was elevated in asymptomatic high-risk individuals (2. 98-fold) compared with healthy non-risk controls (p < 0. 001), and was increased in almost all sera of cancer patients (12. 72-fold) compared with healthy controls (p < 0. 001).

asymptomatic


Input: Interestingly, several genes (TESK2, TIPARP, THEMIS, ABLIM1, RFX4, STON2 and LILRA1) are associated with three personality traits with p & #8201; & lt; & #8201; 10 (-3) using single trait analysis and AD.

THEMIS

AD

THEMIS

AD


Input: Our results implicate endogenous wild-type HTT in adult hippocampal neurogenesis and in the control of mood disorders.

HTT

mood disorders

HTT

mood disorders


Input: Telomerase was positive in 76% of HCC and 11. 8% of chronic hepatitis patients (P < 0. 0001).

HCC

chronic hepatitis


Input: In a study of humans with severe, early-onset obesity, we found four rare, potentially pathogenic genetic variants in MRAP2, suggesting that the gene may also contribute to body weight regulation in humans.

body weight


Input: The Nodal co-receptor Cripto is expressed transiently during normal germ cell development and is ectopically expressed in non-seminomas that arise from germ cell neoplasia in situ, suggesting that its aberrant expression may underlie germ cell dysregulation and hence germ cell cancer.

Cripto

germ cell cancer


Input: Immunohistochemical analysis was performed to determine BRCA1 and the apoptosis-related proteins bcl-2, Bax and p53 in paraffin-embedded tissues of 156 sporadic invasive ductal carcinomas.

sporadic


Input: ] AMT PET and FLAIR MRI improve the detection of potentially epileptogenic tubers in patients with TSC being evaluated for epilepsy surgery.

MRI

epilepsy


Input: A long-term high-fat diet also induced glucose intolerance as well as a significant reduction in mitochondrial DNA and protein content in neil1 (-/-) mice.

glucose intolerance

glucose intolerance


Input: Using an immunohistochemical procedure, MUC5B apomucin was detected in 34/42 (81%) primary breast tumors, in 13/14 (92. 8%) samples of non-malignant breast diseases, in 8/19 (42. 1%) samples of normal-appearing breast epithelia adjacent to cancer, and in 0/5 normal control breast samples.

breast diseases


Input: Resolution of fibrosis was impaired in macrophage fas-induced apoptosis mice but increased after overexpression of CXCL9.

fas


Input: Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.

pseudovitamin D-deficiency rickets

pseudovitamin D-deficiency rickets


Input: Interestingly, insulin sensitivity (oral glucose tolerance test: P = 0. 99; clamp: P = 0. 32), serum C-reactive protein levels, lipids, or liver enzymes (all P > 0. 14) were not different among the genotypes.

C-reactive protein

insulin sensitivity


Input: However, the extent to which loss of BRCA1 or BRCA2 function occurs in sporadic cancer has not yet been determined.

sporadic


Input: Anterior segment developmental disorders, including Axenfeld-Rieger anomaly (ARA), variably associate with harmfully elevated intraocular pressure (IOP), which causes glaucoma.

ARA

glaucoma


Input: Finally, the SNP array analysis revealed that more than two thirds of the samples exhibited polyploidy that was unrecognized by conventional FISH.

FISH

polyploidy


Input: Genetic variants in cytokine genes, such as IL-4, IL-13, IL-33, and IL-18 influence the response to vaccines in children and are also associated with atopy.

atopy


Input: Epigenetic modifications of histone H4 were studied by immunohistochemistry in normal lung and 157 lung carcinoma using antibodies specifically recognizing the acetylated (Ac) lysines 5 (K5), K8, K12, K16, and trimethylated (me3) K20 residues of histone H4.

lung carcinoma


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

IGF

weight gain


Input: We have previously shown that B7h triggering via a soluble form of ICOS (ICOS-Fc) inhibits the adhesion of polymorphonuclear and tumor cell lines to HUVECs; thus, we suggested that ICOS-Fc may act as an anti-inflammatory and antitumor agent.

adhesion


Input: COX-2 and SCD, markers of inflammation and adipogenesis, are related to disease activity in Graves' ophthalmopathy.

Graves' ophthalmopathy

Graves' ophthalmopathy


Input: Using bisulfite sequencing, we determined the degree of methylation of the IGF2/H19 imprinting control region 1 (ICR1) and MEST differentially methylated regions in swim-up purified spermatozoa from 148 idiopathic infertile men and 33 normozoospermic controls.

infertile


Input: To test whether genetic variants in IRF2 predict risk of atopic dermatitis (AD) and ADEH (atopic dermatitis complicated by eczema herpeticum), we genotyped 78 IRF2 tagging single-nucleotide polymorphisms (SNPs) in both European-American (n = 435) and African-American (n = 339) populations.

eczema herpeticum


Input: In conclusion, SNP (rs10493256) in the FLJ10986 gene appears to increase the risk of developing sporadic ALS in our Chinese population.

sporadic


Input: Mitochondrial reactive oxygen species generation by the SDHC V69E mutation causes low birth weight and neonatal growth retardation.

SDHC

growth retardation


Input: Thus, variants of the SPP1 promoter might influence the risk of glioma by regulating promoter activity.

glioma


Input: SAT1 cortical expression levels were also found to be significantly lower in an independent sample of German subjects with major depression who died by suicide in comparison with controls.

major depression

major depression


Input: Interactions between sphingosine-1-phosphate and vascular endothelial growth factor signalling in ML-1 follicular thyroid carcinoma cells.

follicular thyroid carcinoma


Input: Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

Marfan syndrome

Marfan syndrome


Input: Studies have shown a link between single-nucleotide polymorphisms (SNPs) in the endothelial nitric oxide synthase (eNOS) gene and the incidence of coronary spasm and aneurysms.

endothelial nitric oxide synthase

aneurysms


Input: In patients with only coma (n = 15), only delirium (n = 7), and neither ever (n = 14), we measured plasma levels of tumor necrosis factor-& #945;, interleukin (IL)-1 & #946;, IL-1RA, IL-6, IL-8, IL-10, IL-17, macrophage inflammatory protein-1 & #946;, and monocyte chemotactic protein-1.

delirium

delirium


Input: Antagonizing MIF' s activity with a systemic MIF tautomerase inhibitor was able to prevent or greatly reduced chemical cystitis in mice, thus indicating the MIF mediates bladder inflammation in this model.

MIF

bladder inflammation


Input: In this report, we show functional CaR expression in a human astrocytoma cell line (U87).

astrocytoma


Input: On immunoblotting, platelet CBFA2, PKC-, albumin, and IgG were decreased, but pleckstrin, PKC-alpha,-betaI,-betaII,-eta,-epsilon,-delta, and-zeta, and fibrinogen were normal.

fibrinogen


Input: To address changes in the methylation profiles of multiple genes during colorectal carcinogenesis, we investigated the methylation of 12 genes (APC, COX-2, DAP-kinase, E-cadherin, GSTP1, hMLH1, MGMT, p14, p16, RASSF1A, THBS1, and TIMP3) in normal colon (n = 24), colon adenoma (n = 95), and colorectal cancer (n = 149), using methylation-specific PCR.

DAP

colon adenoma


Input: For TNF and IL-10, there was little difference between the two groups unless the effect of smoking was considered.

TNF

smoking


Input: In TP (-/-) mice, the changes in ALT levels were similar to WT mice, but liver regeneration was impaired as evidenced by remained elevated levels of hepatic necrosis and by delayed hepatocyte proliferation, which was associated with the reduced expression of growth factors including interleukin-6 (IL-6), tumor necrosis factor alpha (TNFα), and hepatocyte growth factor (HGF).

hepatic necrosis


Input: The negative effect of this site is abolished in obese rat adipocyte nuclei where SREBP2 is induced and can substitute for ADD1/SREBP1 binding to the inactive SRE.

obese


Input: We have studied a sample of 39 CF patients of Tunisian origin and have used a GC clamp DGGE assay to scan the CFTR gene.

CFTR

CF

CFTR

CF


Input: On the basis of our results, the mutation in the tripartite-motif-containing gene (TRIM32) that replaces aspartate with asparagine at position 487 appears to be the causative mutation of LGMD2H.


Input: To our knowledge this is the first report demonstrating a correlation between MIA expression and pigmentation and morphology of melanocytic cells.

MIA

pigmentation


Input: In contrast, cell damage (assessed with Fluoro-Jade B, silver impregnation and anti-caspase 3 immunohistochemistry) was significantly lower in TgFGF2 mice, especially in the areas of overexpression (CA1 and CA3), indicating reduction of seizure-induced necrosis and apoptosis.

caspase 3

necrosis


Input: Increased VGluT1 expression is supportive of elevated glutamate neurotransmission in the anterior cingulate cortex in bipolar disorder.

bipolar disorder

bipolar disorder


Input: Angelman syndrome (AS) is a neurodevelopmental disorder caused by failure of expression of the maternal copy of the imprinted UBE3A gene through a variety of mechanisms detected by methylation studies, mutation analysis of UBE3A and FISH.

FISH

neurodevelopmental disorder


Input: Recently the finding of an increased frequency of the B3 allotype of the fourth component of complement C4B3 in subjects with retinopathy has suggested that there is an HLA linked association.

retinopathy


Input: Whereas the methylation level of HIC1 did not differ significantly between normal and tumor samples, RassF1A was significantly hypermethylated in liver tumor samples.

liver tumor


Input: This suggests that targeting GR function in the brain could provide new therapeutic strategies to treat cocaine addiction for which there is no available treatment.

GR

cocaine addiction

GR

cocaine addiction


Input: A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

luteinizing hormone receptor

familial male-limited precocious puberty

luteinizing hormone receptor

familial male-limited precocious puberty


Input: Here, we report that crosstalk between ROR1-HER3 and the Hippo-YAP pathway promotes breast cancer bone metastasis in a long noncoding RNA-dependent fashion.

breast cancer

breast cancer


Input: This review tries to survey the expression patterns of inducible transcription factors (ITFs) of the Jun (c-Jun, JunB, JunD) and Fos (c-Fos, FosB, Fra) families as well as of zinc finger proteins (Krox-20 and Krox-24) and their mRNAs following ischemia, epileptic seizures, hypoglycemia, axotomy and (programmed) neuronal death in the mammalian brain.

JunD

ischemia


Input: Accelerated post-MI remodeling leads to excessive ECM deposition and fibrosis, contributing to impaired contractile function, arrhythmias, and heart failure.

ECM

fibrosis


Input: These 3 CARD-BCL10-MALT1 (CBM) complexes activate nuclear factor κB in both the innate and adaptive arms of immunity.

arms


Input: The findings were assessed on the basis of animal weight, morphology of femur, and histochemical localization of alkaline phosphatase (ALP) (an osteoblastic marker) and tartrate-resistant acid phosphatase (TRAP) (an osteoclastic marker) in upper end of femur.

TRAP

weight


Input: Our data suggest that MPO plays a crucial role in determining the susceptibility of leukemia cells to PTL-induced apoptosis.

PTL

leukemia


Input: Impaired capacity to lose visceral adipose tissue during weight reduction in obese postmenopausal women with the Trp64Arg beta3-adrenoceptor gene variant.

weight reduction


Input: Well characterized atheroprotective mechanisms include inhibition of thrombosis (increased tissue-type plasminogen activator and decreased plasminogen activator inhibitor-1), inhibition of endothelial cell apoptosis, limitation of permeability (uptake of low-density lipoprotein), prevention of white blood cell binding and transmigration (no expression of adhesion molecules such as intercellular adhesion molecule-1 [ICAM-1] and vascular cell adhesion molecule-1 [VCAM-1] and no release of monocyte chemotactic protein-1) and increased bioavailability of nitric oxide (because of increased expression of endothelial nitric oxide synthase and manganese superoxide dismutase).

tissue-type plasminogen activator

thrombosis

tissue-type plasminogen activator

thrombosis


Input: The majority of these mice displayed severe hypertrophy (heart-to-body weight ratios & gt; 2-fold greater in the Rac1 mice) and died from overt heart failure between days 14 and 17.

heart failure

heart failure


Input: We assessed the contribution of STX1A to migraine by analyzing three SNPs that cover the entire gene (rs6951030-rs941298-rs4363087), in a case-control association study in 210 migraine patients (102 MO, 86 MA, 22 hemiplegic migraine) and 210 sex-matched unrelated controls.

hemiplegic migraine


Input: In acute myeloid leukemia (AML), several signaling pathways such as the phosphatidylinositol-3-kinase/AKT and the mammalian target of rapamycin (PI3K/AKT/mTOR) pathway are deregulated and constitutively activated as a consequence of genetic and cytogenetic abnormalities.

mammalian target of rapamycin

cytogenetic abnormalities


Input: Thus the amino terminal domain of EWS (NTD-EWS), which is involved in chromosome translocation may regulate the specificity of RNA binding activity of EWS.

EWS

chromosome translocation


Input: Previous studies have described two missense mutations in the human pejvakin gene that cause nonsyndromic recessive deafness (DFNB59) by affecting the function of auditory neurons.

pejvakin

deafness

pejvakin

deafness


Input: Although Smad3 has been considered as a downstream mediator of transforming growth factor-β (TGF-β) signaling in diabetes complications, the role of Smad7 in diabetes remains largely unclear.

diabetes complications


Input: PINK1 mutations in sporadic early-onset Parkinson' s disease.

sporadic


Input: Myelin basic protein and 2', 3'-cyclic nucleotide 3'-phosphodiesterase were also significantly decreased in the mouse model of SZ.

Myelin basic protein

SZ

Myelin basic protein

SZ


Input: The patients with myocardial infarction after administration of alteplase had statistically significantly higher coronary flow (TIMI-3), 72. 5% as compared to the patients who received streptokinase, 39. 2%.

alteplase

myocardial infarction

alteplase

myocardial infarction


Input: p53 regulates cyclophosphamide teratogenesis by controlling caspases 3, 8, 9 activation and NF-kappaB DNA binding.

NF-kappaB

teratogenesis


Input: Using peripheral blood mononuclear cells (PBMC) from a group of asymptomatic and symptomatic HIV-infected individuals, we compared the immunomodulatory effects of exogenous interleukin-2 (IL-2) with the effects elicited by the bacterial integral membrane protein, TraT.

asymptomatic


Input: Overall, these studies demonstrate that the Fstl1/OSM pathway may be a novel pathway to inhibit airway remodeling in severe human asthma.

OSM

asthma


Input: CDK4, p27, and E2F-1 expression were examined in chondrosarcoma and osteochondroma of the jaws by immunohistochemical ABC method.

chondrosarcoma


Input: Induction of POMC/alpha-melanocyte-stimulating hormone (alpha-MSH) activates the melanocortin 1 receptor (MC1R), resulting in skin pigmentation.

POMC

skin pigmentation


Input: Expression of p53-related protein p63 in the gastrointestinal tract and in esophageal metaplastic and neoplastic disorders.

p53-related protein p63

esophageal


Input: The results do not provide evidence that the DAP-1 gene is involved in vulnerability to schizophrenia.

schizophrenia

schizophrenia


Input: Therefore we have examined the interaction of glycation modified human serum albumin (AGE-HSA) and deferoxamine (DFO) mimicked hypoxia on the expression of hypoxia inducible factor 1α (HIF-1α), and the role of RAGE (receptor for AGE) signaling in up-regulation of HIF-1α.

RAGE

hypoxia


Input: We investigated the association of recently identified polymorphisms in the DIO1 (D1a-C/T, D1b-A/G) and DIO2 (D2-ORFa-Gly3Asp, D2-Thr92Ala) genes with circulating thyroid parameters and early neuroimaging markers of AD.

thyroid

thyroid


Input: Here we demonstrate that chronic mild stress-induced anhedonic behavior is associated with disturbed diurnal oscillation of the expression of Clock, Cry2, Per1, Per3, Id2, Rev-erbα, Ror-β and Ror-γ in the mouse basolateral amygdala.

mild


Input: Myeloid differentiation factor 88 (MYD88) L265P somatic mutation is highly prevalent in Waldenström macroglobulinemia (WM) and supports malignant growth through nuclear factor κB (NF-κB).

somatic mutation


Input: Changes in TTV genotype were frequently observed in multiply transfused patients with hemophilia but not in patients with chronic hepatitis or in healthy subjects without risk of transfusion transmission.

TTV

chronic hepatitis


Input: In addition, Nrf2 KO mice show biomarkers of heart failure, such as elevated levels of & #946;-MHC, ANF, and BNP mRNA in the myocardium.

heart failure

heart failure


Input: RyR2: FKBP12. 6 interaction remained intact after caffeine or 4-CMC activation, but was dramatically disrupted by isoproterenol or forskolin, an activator of adenylate cyclase.

FKBP12. 6

caffeine


Input: Mutations affecting Q209 in GNA11 were present in 7% of blue nevi, 32% of primary uveal melanomas, and 57% of uveal melanoma metastases.

uveal melanoma

uveal melanoma


Input: CALR-mutated patients were preferentially male and showed higher platelet count and lower hemoglobin and leukocyte count compared with JAK2-and MPL-mutated patients.

hemoglobin


Input: Taken together, the coexistence of both homozygous or compound heterozygous SLC4A1 mutations and hemoglobinopathy has a combined effect on red cell morphology and degree of hemolytic anemia, which is aggravated by acidosis.

acidosis


Input: The G allele was associated with increased fasting insulin (p (replication) = 0. 02, p (all) = 0. 0008) and HOMA-insulin resistance (p (replication) = 0. 02, p (all) = 0. 001) as well as a lower fasting proinsulin/insulin ratio (p (all) = 0. 008) and lower fasting glucagon (p = 0. 04) and gastric inhibitory peptide (GIP) (p = 0. 05) concentrations.

GIP

insulin resistance


Input: Here we describe the identification of three new missense mutations in the FBN1 gene in patients with the Marfan syndrome.

Marfan syndrome

Marfan syndrome


Input: The increase in resistance to APC was not explained by changes in protein S, protein C, or prothrombin and may contribute to the increased incidence of venous thrombosis in users of hormone replacement therapy.

APC

venous thrombosis

APC

venous thrombosis


Input: Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

luteinizing hormone receptor

familial male-limited precocious puberty

luteinizing hormone receptor

familial male-limited precocious puberty


Input: None of the individual SP-B genotypes or genotype combinations were associated with reduced forced expiratory volume in 1 s (FEV₁)% predicted, forced vital capacity (FVC)% pred and FEV₁/FVC overall or among smokers (p = 0. 25-0. 99).

SP-B

vital capacity


Input: A panel of pancreas development genes, including GCK, Kir6. 2, PTF1A, PDX-1, HNF-1A, NgN3, SOX17, SOX7, SOX9, INS, HNF1-B and SUR1 plus the GATA4 gene, were screened for characterization of pancreatic agenesis and cardiac defect.

Kir6. 2

cardiac defect


Input: To investigate the expression of MUC16 protein in tears and conjunctival cell membranes and MUC16 mRNA in conjunctival cells of Sjogren' s syndrome (SS), keratoconjunctivitus sicca (KCS) and non-dry eyed (NDE) subjects.

NDE

dry


Input: DAP-kinase hypermethylation in AML was associated with myelodysplastic changes in the bone marrow at the time of the initial diagnosis (P =. 002) and with the presence of cytogenetic abnormalities (P =. 02).

DAP

cytogenetic abnormalities


Input: APE1/Ref-1 is up-regulated in HCC and this over-expression correlates with cancer aggressiveness.

HCC

aggressiveness


Input: These data suggest that Achn enhances human breast tumor growth and vascularization and that this activity is dependent on nuclear localization.

Achn

vascularization


Input: These five groups may be classified as: (a) energy metabolism disorders such as respiratory chain disorders, pyruvate dehydrogenase deficiency, GLUT1 deficiency, fatty-acid β-oxidation defects, and disorders involving key cofactors such as electron transfer flavoprotein, thiamine, biotin, riboflavin, vitamin E and coenzyme Q10; (b) intoxication syndromes such as porphyrias, urea-cycle defects, homocystinurias, organic acidurias and amino acidopathies; (c) lipid-storage disorders such as lysosomal storage disorders (Krabbe disease, metachromatic leukodystrophy, Niemann-Pick disease type C, Fabry disease and Gaucher' s disease), peroxisomal disorders (adrenomyeloneuropathy, Refsum disease, disorders of pristanic acid metabolism, peroxisome biogenesis disorders), Tangier disease and cerebrotendinous xanthomatosis; (d) metal-storage diseases such as iron, copper and manganese metabolic disorders; and (e) neurotransmitter metabolism defects, including defects of serotonin, dopamine and glycine metabolism.

peroxisomal disorders


Input: To evaluate main effects and gene-gene interactions of haplotype tagging single nucleotide polymorphisms of genes involved in regulatory T-cell function-IL6, IL6R, IL10, heme-oxygenase 1 (HMOX1), IL2, Toll-like receptor 2 (TLR2), TGFB1, TGF-beta receptor (TGFBR)-1, TGFBR2, IL2RA, and forkhead box protein 3 (FOXP3)-in relation to atopy and asthma.

atopy


Input: mRNA expression profile of multidrug-resistant genes in acute lymphoblastic leukemia of children, a prognostic value for ABCA3 and ABCA2.

acute lymphoblastic leukemia


Input: To address this question, we generated skeletal muscle-specific PGC-1alpha knockout mice (MKOs), which developed significantly impaired glucose tolerance but showed normal peripheral insulin sensitivity.

insulin sensitivity


Input: Thus, aberrant expression of LBX1 may lead to the activation of a developmentally regulated EMT pathway in human breast cancer.

breast cancer

breast cancer


Input: From studies of genetic-knockout animals, brain-derived neurotrophic factor (BDNF), a member of the neurotrophin growth-factor family, has been implicated in both alcohol preference and aggressive behaviour.

BDNF

aggressive behaviour


Input: XAF1 expression had the tendency to decrease from non-neoplastic mucosa to advanced adenocarcinomas.

non-neoplastic


Input: Further studies should address the possible involvement of the ANP/NPRC system in the pathophysiology of diabetic retinopathy.

ANP

diabetic retinopathy


Input: However, pulmonary artery MMP-13 and TIMP-1 expressions decreased significantly in rats of shunt + PPG group (P < 0. 01).

PPG

shunt


Input: In using a co-culture system and MTT assay, reduced viability of endometrial cancer cells was observed in the presence of HB1. F3. CD and HB1. F3. CD. IFN-β cells with prodrug 5-FC.

endometrial cancer


Input: Here we report the purification and characterization of one of these down-regulatory factors, the cytokine, oncostatin M (OSM), which transmits its signal via the gp130 cell surface receptor, resulting in the selective down-modulation of the melanocyte lineage antigens: Melan-A/MART-1, gp100, tyrosinase, tyrosinase-related proteins 1 and 2, and the M isoform of microphthalmia transcription factor.

OSM

microphthalmia


Input: Thus, the associations of both passive and active smoking with breast cancer appear stronger in fast than in slow NAT2 genotypes.

smoking


Input: Dependence of metastatic cancer cell invasion on MLCK-catalyzed phosphorylation of myosin regulatory light chain.

MLCK

metastatic cancer

MLCK

metastatic cancer


Input: In this study, expression of Pak1, p-Pak2 Ser20, Pak4, pPak4 Ser474 in 21 normal endometrium, 16 hyperplastic endometrium without atypia, 17 atypical complex hyperplasia and 67 endometrial cancers was assessed by immunohistochemistry and correlated with clinicopathological parameters.

hyperplasia


Input: Patient age when skeletal problems first manifest generally predicts the clinical course, with perinatal HPP causing bone disease in utero with postnatal lethality.

HPP

bone disease


Input: Conversely, knockdown of ETV1 resulted in decreased aggressiveness of the invasive gastric cancer cells.

aggressiveness


Input: These findings suggest that targeting 5-HT (1B) Rs may lead to a novel treatment for cocaine dependence and that the therapeutic efficacy of these treatments may vary depending on the stage of the addiction cycle.

5-HT (1B

cocaine dependence

5-HT (1B

cocaine dependence


Input: In this study, we investigated the prognostic relevance of ALK positivity by IHC and ALK mutation status by PCR sequencing in 71 NBL, 12 ganglioneuroblastoma (GNBL), and 20 ganglioneuroma samples in a multivariate model.

NBL

ganglioneuroblastoma


Input: X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

X-linked Cornelia de Lange syndrome

X-linked Cornelia de Lange syndrome


Input: Here we report that constitutive mammalian target of rapamycin complex 1 (mTORC1) activity renders hypoxic cells dependent on exogenous desaturated lipids, as levels of de novo synthesized unsaturated fatty acids are reduced under low O2.

hypoxic


Input: PC-3, LNCaP, and DU145 prostate cancer cells were stably transfected with DN FGFR constructs, and LNCaP and DU145 cells were infected with a recombinant adenovirus expressing DN FGFR-1.

adenovirus


Input: Our data show that the presence of SNPs in IL12B, TNFA, and IL1B was significantly associated with asthma, atopy, and severity of asthma. We also highlight the importance of genetic context, haplotype, and gene-gene interaction analysis in genetic association studies.

atopy


Input: Clone 1A12 had four amino acid substitutions in CDR-L3, and showed a 10-fold increase in affinity compared to the parental clone and increased potency in an in vitro anti-proliferative activity assay with HER2-overepxressing gastric cancer cells.

CDR

gastric cancer


Input: Recent case reports suggest a link between the pentose phosphate pathway (PPP) enzyme transaldolase (TAL; encoded by TALDO1) and liver failure in children.

TAL

liver failure


Input: In the hippocampus of GFAP-IL6 mice that survived low dose kainic acid, there was no change in the extent of either neurodegeneration or astrocytosis.

GFAP

neurodegeneration


Input: Since the ERK1/2 pathway is implicated in mediating hypertrophic signaling, we studied the changes in Mfn2 in cardiac hypertrophy using in vitro and in vivo models.

cardiac hypertrophy

cardiac hypertrophy


Input: The ELN 3'-untranslated region (-/A) polymorphism was found to significantly affect pulse wave velocity, an indicator of arterial stiffness.

ELN

arterial stiffness


Input: miR-21 regulates chronic hypoxia-induced pulmonary vascular remodeling.

hypoxia


Input: A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.

benign hereditary chorea

benign hereditary chorea


Input: The Venezuelan kindred is special for having patients with digenic novel nucleotide changes, a KRT86 mutation associated with monilethrix and a KRT81 variant of unknown clinical significance.

monilethrix

monilethrix


Input: The Wnt-pathway dominates the sporadic carcinogenesis whereas p53 plays a pivotal role in the colitis-associated counterpart.

sporadic


Input: Claudin 16 (CLDN16) is a tight junction protein and plays important roles in the maintenance of cell polarity, cellular arrangement, adhesion, paracellular transport, and ionic permeability of various epithelia.

adhesion


Input: These results indicate that hCE1 is not only a more potent and specific marker in distinguishing cancer from liver diseases, in particular cirrhosis, but the combination of hCE1 and AFP shows also synergistic potential for greater sensitivity and specificity in early diagnosis.

cirrhosis


Input: Cardiovascular event rates in patients with ST-elevation myocardial infarction were lower with early increases in mobilization of Oct4 (high) Nanog (high) stem cells into the peripheral circulation during a 4-year follow-up.

myocardial infarction


Input: We have identified ten mutations in the myophosphorylase gene in patients with McArdle' s disease.

myophosphorylase

McArdle' s disease

myophosphorylase

McArdle' s disease


Input: Induction of endothelial nitric oxide synthase expression by IL-17 in human vascular endothelial cells: implications for vascular remodeling in transplant vasculopathy.

endothelial nitric oxide synthase

vascular remodeling


Input: Mutations ending ABCB11 transcription appear linked, through hepatocellular necrosis and fibrosis, to worse outcome.

fibrosis


Input: A novel mutation in the keratin 4 gene causing white sponge naevus.

keratin 4

white sponge naevus

keratin 4

white sponge naevus


Input: In addition, the ERK1/2-binding IQGAP1 WW domain peptide disrupted IQGAP1-ERK1/2 interactions, inhibited RAS-and RAF-driven tumorigenesis, bypassed acquired resistance to the BRAF inhibitor vemurafenib (PLX-4032) and acted as a systemically deliverable therapeutic to significantly increase the lifespan of tumor-bearing mice.

tumorigenesis


Input: During hypoxic conditions, treatment of HT29 cells with the AR inhibitor fidarestat significantly decreased the expression of vascular endothelial growth factor, a down target of HIF-1α, at both mRNA and protein levels and also prevented the activation of PI3K/AKT, GSK3β, Snail, and lysyl oxidase.

lysyl oxidase

hypoxic


Input: It has recently been shown that among other reasons, the systemic inflammation in the brain death cadaveric organ donor contributes to subsequent ARF in the recipient.

ARF

inflammation


Input: The aim of this study was to analyze + 874A/T polymorphism in the IFN-γ gene and its associations with the presence of periodontopathic bacteria and susceptibility to generalized chronic periodontitis (CP).

IFN

generalized chronic periodontitis


Input: Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene.

IM

IM


Input: The clinical syndrome associated with ORAI1 deficiency is characterized by immunodeficiency with a defect in the function but not in the development of lymphocytes, congenital myopathy, and anhydrotic ectodermal dysplasia with a defect in dental enamel calcification.

congenital myopathy


Input: Whole exome sequencing in a family with suspected dominant Kufs disease identified a novel Presenilin 1 mutation p. Leu (381) Phe in three brothers who, along with their father, developed progressive dementia and motor deficits in their early 30 s. All affected relatives had unusually rapid disease progression (on average 3. 6 years from disease onset to death).

Presenilin 1

motor deficits


Input: The NKX3. 1 gene maps to chromosome band 8p21, a region frequently reported to undergo a loss of heterozygosity associated with tissue dedifferentiation and loss of androgen responsiveness during the progression of prostate cancer.

NKX3. 1

dedifferentiation


Input: Here we show that Mstn-null mice have a significant reduction in fat accumulation with increasing age compared with wild-type littermates, even in the setting of normal food intake (relative to body weight), normal body temperature, and a slightly decreased resting metabolic rate.

Mstn

body weight


Input: Atorvastatin lowered endothelial ENA-78 production during inflammation typical of ACS.

inflammation


Input: We studied loss of heterozygosity (LOH) on the long arm of human chromosome 18 in prostate cancer to determine the location of a putative tumor suppressor gene (TSG) and to correlate these losses with the pathological grade and stage of the cancer.

TSG

prostate cancer


Input: To assess the efficacy of multiple treatment of phosphatidylinositol-3-kinase (PI3K) inhibitor on autochthonous tumours in phosphatase and tensin homologue (Pten)-deficient genetically engineered mouse cancer models using a longitudinal magnetic resonance imaging (MRI) protocol.

tensin

cancer


Input: The aim of this study was to evaluate the role of HLA (human leucocyte antigen) class I (A, B, C) and class II (DR) alleles and familial insulin-dependent diabetes mellitus as possible risk markers for early retinopathy in a population of 103 Finnish adolescents with type I diabetes mellitus for 3. 6-16. 2 years.

retinopathy


Input: We demonstrated previously that the expression of the c-jun family was dysregulated in metastatic melanoma cells compared with normal human melanocytes (D. T. Yamanishi et al., J.

c-jun

metastatic melanoma


Input: We report here on a 73-year-old male RTR who presented with Alternaria infectoria phaeohyphomycosis of 1 year' s duration.

RTR

phaeohyphomycosis


Input: In all subjects, hepatic dysfunction, hyperlipidaemia, diabetes mellitus, and hypertrophic cardiomyopathy were significant contributors to morbidity with no clear differences in their prevalence between subjects with BSCL1 or BSCL2 and those with evidence against cosegregation with either chromosome 9 or 11 (designated BSCLX).

hyperlipidaemia


Input: In heart failure, the Arg16Gly and Gln27Glu polymorphisms of the beta2-adrenoreceptor (beta2-AR) gene are associated with exercise-capacity, clinical outcomes and response to beta-AR blocker therapy.

heart failure


Input: However, ADRB3 polymorphism might be a possible determinant of insulin resistance.

insulin resistance


Input: Our experiments therefore demonstrate that HSF1 plays a functional role in cancer cells under nonstress conditions and influences cell cycle behavior and progression through mitosis and promotes the development of the aneuploid state.

aneuploid


Input: Our data demonstrated: (1) that positive MIB 1 immunostaining increased progressively from squamous metaplasia to CIN and microinvasive carcinoma, suggesting that neoplastic transformation is associated with a dysfunctional proliferation of cervical epithelium; (2) that there was a significant correlation between the MIB 1 index and CIN degree but not with respect to HPV DNA presence, and (3) that MIB 1 immunostaining might be useful for a clinical evaluation of mild and moderate dysplastic lesions.

MIB

mild


Input: Moreover, stable silencing of NTSR1 suppressed BON cell growth, adhesion, migration and invasion.

adhesion


Input: Global binding maps for PU. 1, CEBPA and the histone mark H3K27Ac with and without PU. 1 induction showed that mutant PU. 1 retains DNA-binding ability, but the induction of wild-type protein dramatically increases both the number and the height of PU. 1-binding peaks.

PU. 1

height


Input: The study revealed that the positive PRL-3 expression and abnormal E-cadherin expression were associated with mucinous gastric carcinoma and lymph node involvement.

E-cadherin

mucinous gastric carcinoma


Input: To verify the association of transforming growth factor-beta1 (TGF-beta1) (C-509T and T869C), CD14 (C-159T), IL-4 (C-590T), IL-4R (ILe50Val) and ADAM33 (S_2) gene polymorphisms with asthma severity in a sample of patients with mild, moderate and severe persistent atopic asthma.

mild


Input: These findings demonstrate a role for Hic1 in the development of structures affected in the Miller-Dieker syndrome, and provide functional evidence to strengthen its candidacy as a gene involved in this disorder.

Miller-Dieker syndrome

Miller-Dieker syndrome


Input: In hyperprolactinaemic amenorrhoea pituitary hyper-responsiveness may not be due to PRL effects on ovarian steroidogenesis.

PRL

amenorrhoea

PRL

amenorrhoea


Input: We describe here an 18-year-old individual with mild sun sensitivity, no neurological abnormalities and no tumors, who carries a p. R683Q mutation in one allele, and the novel p. R616Q mutation in the other allele of the XPD gene.

XPD gene

abnormalities


Input: Here, we report that inactivation of cell cycle checkpoints responsive to mitotic spindle disruption, by mutant forms of p53 or Bub1, relieves growth arrest and initiates neoplastic transformation in primary cells homozygous for truncated Brca2.

neoplastic transformation


Input: MIF may contribute to B-cell hyperactivity indicated by hypergammaglobulinemia.

MIF

hypergammaglobulinemia


Input: Using HDL from children and adults with chronic kidney dysfunction (HDL (CKD)), a population with high cardiovascular risk, we have demonstrated that HDL (CKD) in contrast to HDL (Healthy) promoted endothelial superoxide production, substantially reduced nitric oxide (NO) bioavailability, and subsequently increased arterial blood pressure (ABP).

ABP

kidney dysfunction


Input: The binding specificity of the VLDLR and LDLR for apoC1-enriched lipoprotein particles was examined in vivo through adenovirus-mediated gene transfer of the VLDLR and the LDLR [giving rise to adenovirus-containing (Ad)-VLDLR and Ad-LDLR respectively] in APOC1 transgenic mice, LDLR-deficient (LDLR-/-) mice and wild-type mice.

LDLR

adenovirus


Input: We report the unusual phenotypic expression in 2 female carriers of a family with X-linked recessive bulbospinal neuronopathy (X-BSN).

BSN

bulbospinal neuronopathy


Input: β3-Adrenergic receptor (ADRB3) Trp64Arg polymorphism is associated with atherogenic risk factors that include weight gain, insulin resistance, and diabetes.

insulin resistance


Input: Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.

lysosomal storage disease


Input: In PCM, staining with PAL-M2 was observed only in tumors with a Breslow thickness of 0. 76 mm or higher.

PAL

tumors


Input: These included novel SNPs for hepatocarcinogenesis with HCV CCND2 rs1049606, RAD23B rs1805329, CEP164 rs573455, and GRP78rs430397 in addition to the known SNPs MDM2 rs2279744 and ALDH2 rs671.

hepatocarcinogenesis


Input: Low density lipoprotein receptor transcripts correlates with liver hepatitis C virus RNA in patients with alcohol consumption.

Low density lipoprotein receptor

alcohol consumption


Input: Here, we describe a case in which a BCL6 rearrangement and additional complex cytogenetic abnormalities occurred in a child with Burkitt lymphoma/leukemia and ataxia-telangiectasia.

telangiectasia


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.

NF-kappaB

adhesion


Input: Skeletal myxoid chondrosarcoma (SMC) is considered to be either a typical chondrosarcoma with prominent myxoid alterations or an altogether unique malignant cartilage tumor.

SMC

chondrosarcoma


Input: Genomewide linkage scan for diabetic renal failure and albuminuria: the FIND study.

FIND

albuminuria


Input: In this study, we examined expressions of netrin-1, DCC, and neogenin in the brain after 90 min of transient middle cerebral artery occlusion (tMCAO).

DCC

middle cerebral artery occlusion


Input: Intermediate ML patients who share the c. 10A & gt; C/p. K4Q mutation in GNPTAB demonstrate a distinct, consistent phenotype similar to ML II in physical and radiographic features and to ML III & #945;/& #946; in psychomotor development and life expectancy.

GNPTAB

ML III

GNPTAB

ML III


Input: These studies suggest that HIV-1 clade B and C Tat proteins may play a differential role in the neuropathogenesis of HIV-associated dementia (HAD) or HIV-associated neurocognitive disorder (HAND).

HAD

neurocognitive disorder


Input: However, patients with a recent history of acute diverticulitis have a significant attenuation in SERT expression and function, likely secondary to previous inflammation.

SERT

inflammation


Input: The current findings are consistent with a strong tonic influence of leptin receptor signalling on hypothalamic GALP expression under normal conditions, and possible abnormalities in GALP neuronal signalling and their putative targets, thyrotropin-releasing hormone and gonadotropin hormone-releasing hormone neurons, under pathophysiological conditions such as diabetes and obesity.

leptin receptor

abnormalities


Input: Our results constitute the first evidence that the MYL9 gene is a direct target of RUNX1 and provide a mechanism for decreased platelet MYL9 expression, MLC phosphorylation, thrombocytopenia, and platelet dysfunction associated with RUNX1 mutations.

MLC

thrombocytopenia


Input: SFRP1 promoter methylation was observed in 75%, 48. 2%, 21. 4%, 14. 3% and 0% in HCC cell lines, primary HCCs, cirrhotic livers, livers with chronic hepatitis, and normal control tissues, respectively.

HCC

chronic hepatitis


Input: The top upregulated genes in IBD are associated with diabetogenesis (REG1A, REG1B), bacterial signals (TLRs, NLRs), innate immunity (DEFA6, IDO1, EXOSC1), inflammation (CXCLs), and matrix degradation (MMPs).

inflammation


Input: A combination of sequence analysis, reporter gene assays, quantitative real-time PCR, electrophoretic gel mobility shift assays and immunoblot analysis further confirmed the four AP-2gamma target genes in carcinogenesis group: ErbB2, CDH2, HPSE and IGSF11.

carcinogenesis


Input: Previous studies have linked polymorphisms in the DAOA gene with the occurrence of neuropsychiatric symptoms such as depression, apathy, aggression, delusions, hallucinations, and psychosis in AD.

DAOA gene

apathy


Input: Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: Expression of the adhesion molecules ICAM-1, VCAM-1, and E-selectin and their ligands VLA-4 and LFA-1 in chronic venous leg ulcers.

adhesion


Input: To report the clinical features, management, and outcome of a patient who developed bilateral ectasia after photorefractive keratectomy (PRK).

PRK

ectasia


Input: These data indicate that BCL2 or BCL3 are recurrent translocation partners of the IGH locus in cHL; however, most of the translocation partners of IGH translocations in cHL remain to be identified.

translocation


Input: The genotypic and allelic frequencies of LIPC and PCSK9 were different between normal weight and overweight/obese subjects, the genotypic frequency of LIPG and allelic frequency of MYLIP were also different between normal weight and overweight/obese subjects (P < 0. 05-0. 001).

MYLIP

overweight


Input: We found an allele-wise association of rs2072446 on NGFR with familial AD (fAD, p = 0. 047), and a genotype-wise association of rs2289656 on NTRK2 with sporadic AD (sAD, p = 0. 0036).

sporadic


Input: In conclusion, MK2 and MK3 together play crucial roles in the regulation of the renal stress response and in the development of glomerulonephritis, which can potentially be exploited to develop novel therapeutic approaches to treat glomerular disease.

glomerulonephritis


Input: To determine if t (2; 5) is involved in cutaneous lymphoproliferative disorders, we studied 37 CD30 + cutaneous lymphoproliferations, 27 mycosis fungoides (MF), and 16 benign inflammatory disorders (BID).

BID

lymphoproliferative disorders


Input: Because mitochondrial dysfunction, inflammation, endoplasmic-reticulum stress and hypoxia all inactivate mTORC1, our results may suggest a unifying mechanism for the pathogenesis of insulin resistance in T2D, although the underlying causes might differ.

hypoxia


Input: After adjusting for drinking, which significantly differed between the groups as per univariate analysis, we found that hypermethylation of GSTP1 and CYP1A1 promoters was associated with ADLI (OR = 2. 645 and 2. 090, respectively).

drinking


Input: NSCLC patients carrying C allele of CTR1 rs10981694 presented more sensitivity to ototoxicity after cisplatin treatment.

ototoxicity


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

Leptin receptor

abnormalities


Input: Mild keratan sulfaturia was found, and beta-galactosidase was deficient in fibroblasts.

beta-galactosidase

keratan sulfaturia

beta-galactosidase

keratan sulfaturia


Input: A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.

keratin 1

epidermolytic hyperkeratosis

keratin 1

epidermolytic hyperkeratosis


Input: The aims of the present study were two-fold: 1) to determine the Wnt5a role in viability, apoptosis, migration, colony formation and adhesion of human serous epithelial ovarian cancer cell line SKOV-3, and 2) to assess the relationship of Wnt5a with E-and N-cadherin in high-and low-grade human serous ovarian cancer specimens.

N-cadherin

epithelial ovarian cancer


Input: Here, we describe a study of Sry detection in the gonads of intersex patients including 5 male pseudohermaphrodite (MPH), 4 XX true hermaphrodite (TH) and each 1 mixed gonadal dysgenesis (MGD) and XX sex reversal, and in the clitoris of 3 female pseudohermaphrodite (FPH) by fluorescent in situ hybridization (FISH).

FISH

true hermaphrodite


Input: Here, we report that a Zfp191 homolog protein, ZNF396, is expressed in basal cell carcinoma (BCC) and possibly represses the expression of a Notch system effector molecule, Hes1 (hairy and enhancer of split-1), and prevents BCC cells from undergoing Notch-mediated squamous cell differentiation.

basal cell carcinoma


Input: We now show that TAZ plays a critical role in the migration, invasion, and tumorigenesis of breast cancer cells.

TAZ

tumorigenesis


Input: We observed that hypoxia treatment increased oxidative stress, exacerbated inflammation, and aggravated learning defects in aged APP/PS1 mice.

APP

hypoxia


Input: The most effective, independent predictors of BRCA1 mutations were age at onset, HER2 status, and either ER or PR status, as compared with sporadic or non-BRCA1/BRCA2 cancers.

sporadic


Input: Treatment of hypertrophic scars resulted in increased mean levels of IL-8, bFGF, and GMCSF mRNA; while mean TGF beta and fibronectin mRNAs decreased after treatment with both dressings.

GMCSF

hypertrophic scars


Input: Frequency distribution of polymorphisms in the FSH receptor gene in infertility patients of different ethnicity.

FSH receptor

infertility


Input: The ChREBP protein and mRNA expressions were then analysed in a series of breast cancers for correlative analysis with common and breast-specific hypoxia signatures, and survival.

ChREBP

hypoxia


Input: In this study, p16 (INK4A) immunohistochemical expression was evaluated in 56 OLP and 36 OLK (12 without inflammation [NI-OLK] and 24 with chronic inflammation [I-OLK]) and compared with 23 reactive nonspecific inflammations (INF) and 14 normal control samples.

inflammation


Input: TT virus (TTV) is a newly discovered non-enveloped, single stranded DNA virus of high genotypic variability, found frequently in patients with acute or chronic hepatitis of non A-G aetiology.

TTV

chronic hepatitis


Input: Frequencies of GST mu expression were as follows: controls (n = 449, 51. 2%), mild ulcerative colitis (n = 76, 47. 3%), moderate ulcerative colitis (n = 43, 46. 5%), and severe ulcerative colitis (characterized by colectomy) (n = 60, 36. 7%).

GST

mild


Input: Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.

Lynch syndrome

Lynch syndrome


Input: We have documented a selective effect of the ectopic expression of SMC3 on a set of genes and transcriptional signaling pathways that are relevant for tumorigenesis.

tumorigenesis


Input: AIMS: To replicate the association of genetic variants with estimated glomerular filtration rate (GFR) and albuminuria, which has been found in recent genome-wide studies in patients with Type 2 diabetes.

GFR

albuminuria


Input: These results suggest a potential role of this protein in the molecular etiology of CMT2B2 and suggest a potential, more general role of MED25 in gene dosage sensitive peripheral neuropathy pathogenesis.

peripheral neuropathy


Input: Long-term Nuc therapy may also result in histological improvement or reversal of advanced fibrosis and reduction in disease progression including the development of HCC.

HCC

fibrosis


Input: The expression levels and subcellular localization of the CCNB2, ASPM, CDCA7, KIAA0101, and SLC27A2 proteins were measured using immunohistochemistry (IHC) on a panel of 80 primary invasive breast tumors.

breast tumors


Input: We conclude that DAC-mediated restoration of sensitivity to bolus 5-FU is mediated at least in part by increased UMPK levels and clinical resistance to 5-FU due to decreased UMPK in colorectal cancer may be overcome by including methylation inhibitors such as DAC.

DAC

clinical resistance


Input: A pharmacological inhibitor of p110 & #947; (encoded by PIK3CG) impaired cell proliferation in medulloblastoma cell lines and sensitized the cells to cisplatin treatment.

medulloblastoma

medulloblastoma


Input: Collectively these data provide insight into the pathways engaged in TSLP-driven airway inflammation and demonstrate that simultaneous blockade of IL-4 and IL-13 can reverse established airway disease, suggesting that this may be an effective approach for the therapy of Th2-mediated inflammatory respiratory disease.

inflammation


Input: Involvement of tissue plasminogen activator in stress responsivity during acute cocaine withdrawal in mice.

tissue plasminogen activator

cocaine withdrawal

tissue plasminogen activator

cocaine withdrawal


Input: We analyzed the expression of LOXL2, LOXL3, and LOXL4 in cancers involving the serosal cavities-breast carcinoma, ovarian carcinoma, and malignant mesothelioma using reverse-transcriptase polymerase chain reaction.

cavities


Input: Slit2 expression was significantly higher in TLE patients as compared with the controls.

TLE

TLE


Input: In insulin-treated patients who matched the clinical criteria for PNDM, the KCNJ11 or ABCC8 genes were sequenced, and mutation carriers were invited for replacement of insulin with SU.

PNDM

PNDM


Input: Melanoma risk factors include fair pigmentation, multiple nevi, low DNA repair capacity, and CDKN2A or CDK4 mutations.

multiple nevi


Input: Both germline and somatic loss-of-function CHEK2 mutations occur in human tumours, the former linked to the Li-Fraumeni syndrome, and the latter found in diverse types of sporadic malignancies.

sporadic


Input: This permeability defect preceded the development of ileal inflammation, was present in the absence of commensal bacteria, and was accompanied by altered ileal mRNA expression of the tight junction proteins claudin-2 and occludin.

occludin

inflammation


Input: Indeed, sphingosine, which accumulates upon inhibition of SK1 activity, and sphingosine-like compounds promote activation of the inflammasome, which is linked with multiple sclerosis, to stimulate formation of the pro-inflammatory mediator, IL-1β.

multiple sclerosis


Input: To assess whether systemic inflammation played a role in mediating cataractogenesis, we studied serum levels of eotaxin, IL-6, and IL-4.

inflammation


Input: To compare the incidence and extent of coronary artery calcification (CAC) as measured by electron beam computed tomography (EBCT) in patients with systemic lupus erythematosus (SLE) and controls, and to identify variables associated with CAC in patients with SLE.

CAC

coronary artery calcification


Input: High claudin-4 expression was also associated with worse breast cancer-specific survival (p = 0. 003), recurrence-free survival (p = 0. 025) and overall survival (p = 0. 034).

breast cancer

breast cancer


Input: The induction of experimental autoimmune encephalitis, the animal model of multiple sclerosis (MS), occurs in mice lacking IL-12, but not in mice with targeted disruption of IL-23 or both IL-12 and IL-23.

autoimmune encephalitis


Input: The average expression level of Zip2 was significantly higher and Zip6, Zip8 mRNA levels were significantly lower in short stature children than in health controls at 0 min (P < 0. 05, P < 0. 05).

short stature


Input: Rb and TP53 pathway alterations in sporadic and NF1-related malignant peripheral nerve sheath tumors.

sporadic


Input: However, it has yet to be elucidated whether LOX-1, along with Nrf2, participates in the pathology of preeclampsia.

preeclampsia


Input: The E3 ubiquitin ligase Wwp2 regulates craniofacial development through mono-ubiquitylation of Goosecoid.

E3 ubiquitin ligase

mono


Input: In the present study, we show that expression of the inflammasome related genes, NLRP3, caspase-1, IL-1 & #946; and the IL-1 & #946;/IL-1Ra ratio, was increased in PBMC from MS patients compared to healthy controls (HC).

MS

MS


Input: ERCC5 is a component of the nucleotide excision repair machinery and biallelic mutations in the gene have previously been associated with xeroderma pigmentosum (group G), Cockayne syndrome and the more severe cerebrooculofacioskeletal syndrome.

cerebrooculofacioskeletal syndrome

cerebrooculofacioskeletal syndrome


Input: The influence of smoking, gender, age, as well as polymorphisms in cytochrome P450 CYP2D6, CYP1A2, and ABCB1 genes on the serum and CSF drug levels was also analyzed.

smoking


Input: Among them, miR-29a showed a positive therapeutic effect in liver cancer cells by inhibiting cell growth and inducing cell apoptosis, and PPM1D was confirmed to be the target gene of miR-29a.

liver cancer

liver cancer


Input: FISH analysis using a NUP98-specific clone showed a split signal, indicating that the NUP98 gene was affected by the translocation.

NUP98 gene

translocation


Input: We analyzed IFN-gamma and IL-4 messenger RNA (mRNA) positive cells in liver sections from 18 patients with PBC and 35 disease controls including chronic active hepatitis C, extrahepatic biliary obstruction (EBO), and normal liver, using nonisotopic in situ hybridization and immunohistochemistry.

IFN

extrahepatic biliary obstruction


Input: At baseline, after 2 and 4 months and every 6 months thereafter, glomerular filtration rate (GFR), albuminuria, and 24-h blood pressure were determined.

GFR

albuminuria


Input: An ergostane type triterpenoid methylantcinate A (MAA) isolated from the fruiting bodies of Antrodia camphorata inhibited the growth of oral cancer cell lines OEC-M1 and OC-2 in a dose-dependent manner, without cytotoxic to normal oral gingival fibroblast cells.

oral cancer


Input: Mutations in KCNQ1, encoding for Kv7. 1, the & #945;-subunit of the IKs channel, cause long-QT syndrome type 1, potentially predisposing patients to ventricular tachyarrhythmias and sudden cardiac death, in particular, during elevated sympathetic tone.

long-QT syndrome type 1

long-QT syndrome type 1


Input: However, by 1 h of ischemia, the abundance of the cap-initiation complex protein eIF4G is reduced by relocalization into TIAR protein complexes, triggering 4E-BP1 sequestration of eIF4E and disruption of cap-dependent mRNA initiation complexes.

ischemia


Input: Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p. R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay.

ACC

ACC


Input: The genetics of systemic lupus erythematosus stratified by renal disease: linkage at 10q22. 3 (SLEN1), 2q34-35 (SLEN2), and 11p15. 6 (SLEN3).

renal disease


Input: The mutations in either POMT1 or POMT2 can lead to Walker-Warburg syndrome, a congenital muscular dystrophy with abnormal neuronal migration.

Walker-Warburg syndrome

Walker-Warburg syndrome


Input: In conclusion, we provide evidence that the IGD in this previously unreported family with ACTH resistance appears to be secondary to compound heterozygosity of a coding region and a promoter mutation in the MC2R gene.

ACTH resistance

ACTH resistance


Input: X-linked hydrocephalus (HSAS) (MIM * 307000), MASA syndrome (MIM * 303350), and complicated spastic paraplegia (SPG1) (MIM * 312900) are closely related.

MIM

spastic paraplegia


Input: Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.

CTNS

nephropathic cystinosis

CTNS

nephropathic cystinosis


Input: Aldo-keto reductases AKR1C1, AKR1C2 and AKR1C3 may enhance progesterone metabolism in ovarian endometriosis.

endometriosis

endometriosis


Input: Inhibition of experimental lung metastasis by systemic lentiviral delivery of kallistatin.

kallistatin

lung metastasis


Input: Markedly elevated serum TBPA is associated with euthyroid hyperthyroxinemia.

TBPA

euthyroid hyperthyroxinemia


Input: These results suggest that silencing of the CDH13 gene by aberrant promoter methylation and allelic deletion is associated with tumorigenesis in a subset of B-DLCL.

CDH13 gene

tumorigenesis


Input: This study supports a role for HOMER2 gene in schizophrenia susceptibility.

schizophrenia

schizophrenia


Input: CD4 (+) CD28 (null) T cells are expanded in peripheral blood of patients with chronic kidney disease and associated with subclinical atherosclerosis.

atherosclerosis


Input: We studied the associations between 18 single nucleotide polymorphisms (SNPs) in CHRNA5-CHRNA3-CHRNB4 and systolic blood pressure (SBP), diastolic blood pressure (DBP), and body mass index (BMI) in 5402 young adults from the Northern Finland Birth Cohort 1966.

systolic blood pressure


Input: The role of MSI in colorectal tumorigenesis was assessed further in this study by both microsatellite analysis of two CRC subsets [unselected patients (n = 215) and patients < 50 years of age (n = 95)], and mutation screening of the two major MMR genes MLH1 and MSH2 among familial CRC cases.

MMR

tumorigenesis


Input: Based on the common sleep phenotypes observed in del 2q23. 1, SMS, and FXS patients, we explored the possibility that MBD5, RAI1, and FMR1 function in overlapping circadian rhythm pathways.

circadian rhythm


Input: Conditioned medium from cells transfected with wild-type or variant BMP10 induced hypertrophy in rat neonatal cardiomyocytes, except that medium from variant BMP10-carrying cells showed an enhanced effect reflecting the increased secretion.

hypertrophy


Input: DRB1 and DQB1 alleles did not influence viral load as an independent factor.

viral load


Input: Here, we showed that some macrophages in the tumor stroma of nasopharyngeal carcinoma (NPC) tissue expressed the immunosuppressive protein indoleamine 2, 3-dioxygenase (IDO) more strongly than did tumor cells.

IDO

nasopharyngeal carcinoma


Input: TH1 pathway genes involved in anti-virus/bacterial infection and inflammation modify lung function in asthmatic subjects.

inflammation


Input: Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility.

ASD

ASD


Input: Our results thus suggest that KGF may have an important role in the molecular pathology of GH in vivo.

KGF

GH

KGF

GH


Input: To investigate the possible association with susceptibility to HCC, 181 chronic hepatitis patients and 180 HCC patients were enrolled in this study.

HCC

chronic hepatitis


Input: To investigate the effects of interleukin-8 (IL-8), macrophage migration inhibitory factor (MIF) gene polymorphisms, Helicobacter pylori (H. pylori) infection, on the risk of developing severe chronic atrophic gastritis (SCAG) and intestinal metaplasia (IM).

MIF

chronic atrophic gastritis


Input: In this study, we utilize PCR array technique to examine hundreds of inflammation-related genes in the IL-4 Tg mice before and after the onset of skin lesions as well as in their wild type (WT) littermates.

inflammation


Input: The neovascular AMD involves proliferation of abnormal choroidal vessels, which penetrate the Bruch' s membrane and RPE layer into the subretinal space, thereby forming extensive clots and/or scars.

RPE

scars


Input: Treatment with 9-cis retinoic acid significantly inhibited Wnt5b expression in myometrial SMC but not in their leiomyoma counterparts.

SMC

leiomyoma


Input: The posttranslational regulation of proTRH processing in the paraventricular nucleus by thyroid status is a novel aspect of the regulation of the HPT axis, which may have important implications for the pathophysiology of hypo-and hyperthyroidism.

HPT

hyperthyroidism


Input: Thus, n-3 PUFAs and aliskiren improved electrical remodeling, arrhythmia induction, and connexin 43 expression, despite a 70-mm Hg difference in blood pressure and the development of cardiac hypertrophy.

connexin 43

cardiac hypertrophy


Input: In all, 24 desmoplastic small round cell tumors with EWS-WT1 fusion product confirmed by RT-PCR analysis were evaluated for expression of PDGF-A, PDGF-Rbeta, TGFbeta3 and bone morphogenic protein-4 by standard immunohistochemical methods with antigen retrieval on paraffin sections.

PDGF-A

desmoplastic


Input: A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and " patchy " expression in the mosaic father.

achondrogenesis type II

achondrogenesis type II


Input: This review focuses on describing how, through reductionist in vitro experimentation focusing on TGF-β1-related responses to hyperglycaemia, we have identified induced in high glucose-1 (IHG-1), induced in high glucose-2 (IHG-2/Grem1) and the lipoxin-inducible microRNA let-7c as potential targets for harnessing new therapeutic approaches to limit the bioactivity of TGF-β1 in diabetic kidney disease.

hyperglycaemia


Input: In most of sporadic ovarian cancer, variation in the expression of BRCA1 and BRCA2 genes was observed and it could be a consequence of epigenetic modifications.

BRCA2 genes

sporadic


Input: In mouse models, loss of the candidate tumor suppressor gene Ubiquitin Specific Protease 44 (USP44) is associated with aneuploidy and cancer.

aneuploidy


Input: The HepaRG-AMC-BAL retains functionality after both mild and severe exposure to ALF plasma, but urea production may be increasingly derived from arginase 2 activity instead of urea cycle activity.

ALF

mild


Input: The VEGF-460 genotype was predictive of retinopathy, even after controlling for blood pressure, glycemic control, duration of diabetes, and obesity (P = 0. 02).

VEGF

blood pressure


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

adhesion