Input: Validation of differential expression of a subset of genes by real-time quantitative RT-PCR (real-time QRT-PCR) in clinical specimens of ESCC, esophageal dysplasia and histologically nonmalignant esophageal tissues and immunohistochemical analysis using tissue microarrays confirmed the microarray data and demonstrated upregulation of zinc finger proteins, cellular modulator of immune recognition (c-MIR), snail homolog 2 (SLUG), zinc transporter, ZnT7 and downregulation of zinc metabolizing protein, metallothionein MT1G.

esophageal


Input: In this paper we describe four additional PAX6 point mutations in aniridia patients, both sporadic and familial.

aniridia

aniridia


Input: HEK 293 cells were exposed in vitro to hypoxia/reoxygenation (H/R), which increased SGK1 transcript levels, SGK1 protein abundance and SGK1 phosphorylation.

hypoxia


Input: In cervical adenocarcinoma, patients with higher PCNA index tumor (> or = 40. 2%) showed a significantly greater decrease in tumor volume than those with lower PCNA index (P < 0. 05).

PCNA

cervical adenocarcinoma


Input: These data suggest that IL13 SNPs (promoter and coding region) and, to a lesser extent, IL4RA SNPs may contribute to atopy and asthma.

atopy


Input: Essential hypertension was defined as a systolic blood pressure (SBP) greater than 160 mm Hg and/or a diastolic blood pressure (DBP) greater than 90 mm Hg or use of any antihypertensive treatment by participants.

DBP

systolic blood pressure


Input: Phosphodiesterase-4 (PDE4), an enzyme that catalyzes the hydrolysis of cyclic AMP and plays a critical role in controlling its intracellular concentration, has been implicated in depression-and anxiety-like behaviors.

AMP

depression

AMP

depression


Input: Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

Ollier disease

Ollier disease


Input: These results support the notion that huntingtin participates in anxiety and depression-like behavior and is thus relevant to the etiology of mood disorders and anxiety/depression in HD.

huntingtin

mood disorders

huntingtin

mood disorders


Input: Our objective was to investigate whether E (2) affected the activity and expression of constitutive nitric oxide synthase (NOS) isoforms (NOS3 and NOS1) in cardiac hypertrophy induced by thoracic aortic constriction (TAC).

constriction


Input: In B-cell neoplasia, TCL1 was expressed in the majority of the cases, including lymphoblastic lymphoma, chronic lymphocytic leukemia, mantle cell lymphoma, follicular lymphoma, Burkitt lymphoma, diffuse large B-cell lymphoma (60%), and primary cutaneous B cell lymphoma (55%).

lymphoma, diffuse


Input: Germ line mutations in three genes have been detected in patients with familial Alzheimer' s disease (FAD) and sporadic, early onset disease: amyloid precursor protein (APP), presenilin 1 (PS-1), and presenilin 2 (PS-2).

FAD

sporadic


Input: Focusing on PRL-1 and PRL-2, high levels of both proteins were detected in a subset of pancreatic cancer cell lines and tumor samples using Western blotting and immunohistochemistry, respectively.

pancreatic cancer


Input: Fungal infections with Curvularia lunata and Aspergillus fumigatus were typically confined to the airway during allergic inflammation but became locally invasive and disseminated to the brain at higher conidium challenge doses, in association with predominant Th1 responses.

inflammation


Input: HRec-positive BRCA1-and BRCA2-associated patients had a sensitivity to taxane chemotherapy similar to that of sporadic patients.

sporadic


Input: We describe a 15-year-old Caucasian female with a SCCOHT harboring a previously unreported somatic mutation in the SMARCA4 gene (c. 1757delA; p. K586. fs) with loss of heterozygosity.

SMARCA4 gene

somatic mutation


Input: Cellular oxidative stress, DNA binding activity of redox-responsive transcription factors (AP-1, NF-kappaB and CREB) as well as mRNA levels of inflammatory genes (MCP-1 and TNF-alpha) were determined in the thoracic and lumbar regions of the spinal cords.

CREB

thoracic


Input: Western blot analysis reveals that phosphorylation of Akt/protein kinase B (PKB) and to a lesser extent the mitogen-activated protein kinase extracellular signal-regulated kinase (ERK) 1/2, both essentially involved in Ang II-mediated hypertrophy, is dose dependently reduced by RV.

PKB

hypertrophy


Input: However, the expression of myostatin in chronic heart failure resulting from volume-overload and after treatment with beta-blockers is little known.

myostatin

chronic heart failure

myostatin

chronic heart failure


Input: Measurement of resting cytosolic Ca2 + concentrations and Ca2 + store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2 + release channels.

malignant hyperthermia


Input: We observed a decreased risk of NHL over-all with BHMTEx8 + 453A & gt; T and increased risk with CBS Ex13 + 41C & gt; T, FPGS Ex15-263T & gt; C, and SHMT1 Ex12 + 138C & gt; T and Ex12 + 236C & gt; T.

FPGS

NHL

FPGS

NHL


Input: The aims of this study were to investigate the effect of seminal plasma and PGE2 on the expression of COX-2 and expression and signalling of the PGE2 receptor subtypes (EP1-EP4) in HeLa (cervical adenocarcinoma) cells.

cervical adenocarcinoma


Input: Some FA gene products involved in redox homeostasis can be summarized as follows: (a) FANCA, FANCC, and FANCG interact with cytochrome P450-related activities and/or respond to oxidative damage; (b) FANCD2 in OS response interacts with forkhead box O3 and ataxia telangiectasia mutated protein; (c) FANCG is found in mitochondria and interacts with PRDX3, and FA-G cells display distorted mitochondria and decreased peroxidase activity; (d) FANCJ (BACH1/BRIP1) is a repressor of haeme oxygenase-1 gene and senses oxidative base damage; (e) antioxidants, such as tempol and resveratrol decrease cancer incidence and haematopoietic defects in Fancd2 (-/-) mice.

telangiectasia


Input: HLA-DRB1 * 08 allele may be the susceptible risk gene for pneumoconiosis.

pneumoconiosis


Input: Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

Combined deficiency of factor V and factor VIII

Combined deficiency of factor V and factor VIII


Input: Compared to parental virus infection in macaques, primary viremia was reduced by > 1, 000-fold to undetectable levels, with little sign of an increase of cycling cells in lymph nodes, CD4 (+) depletion, or altered T-cell activation markers in peripheral blood.

viremia


Input: ] and basal cell carcinoma [BCS]) of the human skin was analyzed immunohistochemically and biochemically to characterize the features associated with malignancy.

BCS

basal cell carcinoma


Input: ECs and SMCs cultured from human blood vessels or cells lines (human microvascular endothelial cell line and human telomerase reverse transcriptase subunit SMC) were infected with adenovirus containing DNA from wild-type hsp27, hyper-phosphorylated hsp27 mimic (3D hsp27), hypo-phosphorylated hsp27 mimic (3A hsp27) or anti-sense hsp27, and proliferation measured over the next 5 days.

adenovirus


Input: It should be noted that there was no intact BCOR found in the 45,-Y, t (X; 17) (p11; q12) APL cells because they featured only a rearranged X chromosome.

BCOR

APL

BCOR

APL


Input: In hypothermia, this induction appeared already after 18 h. Following normothermic ischemia, nuclear PCNA immunoreactivity was largely abolished during reperfusion in the vulnerable CA1 neurons, prior to cell death.

ischemia


Input: Our findings suggest that COCH mutations are unlikely to cause abnormalities in secretion and suggest that extracellular events might cause DFNA9 pathology.

COCH

COCH


Input: MRP4 expression was increased in pulmonary arteries from patients with idiopathic PAH as well as in WT mice exposed to hypoxic conditions.

hypoxic


Input: All affected members of the families have an identical mutation in this gene, mutations of which are recognized causes of Björnstad syndrome, GRACILE syndrome and a syndrome of neonatal tubulopathy, encephalopathy, and liver failure (MIM 606104) leading to isolated mitochondrial respiratory chain complex III deficiency.

GRACILE syndrome

liver failure


Input: Several of these proteins, such as TMbeta, HSP70, annexin I, calreticulin, TPM4-ALK and isoforms of myosins, have been well recognized in tumorigenesis of esophageal or other types of cancers.

annexin I

tumorigenesis


Input: The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.

multidrug resistance 3

neonatal cholestasis


Input: AKT1 and AKT2 protein levels were measured in post-mortem brain tissues from ante-mortem diagnosed schizophrenia (n = 30) and bipolar disorder subjects (n = 12) and matched controls.

bipolar disorder

bipolar disorder


Input: The presenting clinical features of CD11c + CD5 + B-cell leukemias were most consistent with CLL or PLL, and none of the evaluated cases had pancytopenia, splenomegaly, and cytoplasmic villi characteristic of HCL.

pancytopenia


Input: However, the frequency of one C4B * Q0 allele was three times higher, and that of two C4B * Q0 alleles five times higher in the vitiligo patient group than the reported frequencies in normal control groups.

vitiligo


Input: This new phased-array ICE catheter may be a useful clinical tool for the diagnosis of heart failure, ischemia, tamponade, and pulmonary embolism.

ICE

pulmonary embolism


Input: The fully adjusted model with plasma TNF-alpha failed to show significant main effects for smoking and genotype, as well as for the smoking-status-genotype interaction.

TNF-alpha

smoking


Input: We report a novel heterozygous frameshift mutation (c. 3151dupA) and a CNV in PIKFYVE, representing the first CNV and the fifth frameshift mutation associated with FCD.

PIKFYVE

FCD

PIKFYVE

FCD


Input: Furthermore, subtoxic doses of bepridil and cibenzoline, two other anti-arrhythmic drugs with NCX-inhibitor activity, also sensitized glioma cells to TRAIL-mediated apoptosis, via the upregulation of both CHOP and DR5.

NCX

glioma


Input: We devised a new strategy for the AFP TRE to control an artificial E1A-IRES-E1B bicistronic cassette in an adenovirus 5 vector (Ad5) and constructed an HCC-specific oncolytic virus, CV890.

HCC

adenovirus


Input: To evaluate the effects of hepatocyte growth factor (HGF) on the prevention of scar formation and the promotion of wound healing by gene transfer.

HGF

scar


Input: Even though three genes (SDHD, SDHC, and SDHB), which encode three protein subunits of cytochrome b of complex II in the mitochondrial respiratory chain, have been identified, the molecular mechanisms leading to tumorigenesis are unknown.

SDHC

tumorigenesis


Input: All the juvenile lines were found to have normal or reduced levels of pre beta-chain mRNA and no gross abnormalities in the HEXB gene.

HEXB gene

abnormalities


Input: In particular, p53 appears to have important functions as it relates to neurodegeneration and synaptic plasticity.

neurodegeneration


Input: PAR-2 inhibition reverses experimental pulmonary hypertension.

PAR

pulmonary hypertension


Input: We previously reported preliminary results of association of clozapine-induced agranulocytosis (CA) with HLA-B38, DR4, DQ3 in five Ashkenazi Jewish patients and with HLA-DR2, DQ1 in four non-Jewish patients.

agranulocytosis


Input: Furthermore, no evidence of association with uveitis was detected for the analyzed genetic variants of the IL2RA or IL2RB loci.

uveitis


Input: All methylation positive HCC, cirrhosis, and chronic hepatitis samples showed loss of p16 expression, and a significant correlation was found between methylation and loss of expression.

HCC

chronic hepatitis


Input: Identification of a novel BLM missense mutation (2706T & gt; C) in a Moroccan patient with Bloom' s syndrome.

BLM

Bloom' s syndrome

BLM

Bloom' s syndrome


Input: Ectopic expression of ING4 suppressed MYC-induced mammary hyperplasia, but not tumorigenesis.

hyperplasia


Input: To investigate the possible association between tumor necrosis factor alpha (TNF-alpha)-308 G/A polymorphism and pseudoexfoliation (PEX) glaucoma.

TNF-alpha

pseudoexfoliation


Input: We conclude that PFM caused by mutations in ALX4 and MSX2 have a similar prevalence and are usually clinically indistinguishable.

PFM

PFM


Input: Trim62 was expressed in myocytes, and its overexpression activated the atrophy-inducing activator protein 1 signal transduction pathway.

activator protein 1

atrophy


Input: The results, in conjunction with the previous findings, suggest that mesomelic skeletal features such as Langer mesomelic dysplasia and LWDC, which are absent or rare in Turner syndrome, are primarily caused by the SHOX dosage effect and the bone maturing effect of gonadal estrogens, whereas other skeletal features such as short metacarpals, cubitus valgus, and various craniofacial and cervical skeletal stigmata, which are common in Turner syndrome, are largely contributed by a compressive effect of distended lymphatics and lymphedema on the developing skeletal tissues.

SHOX

Langer mesomelic dysplasia

SHOX

Langer mesomelic dysplasia


Input: In both women, DNA from chorionic villus sampling, performed after high-risk aneuploidy screening, showed the fetus had inherited the GCK mutation.

GCK

aneuploidy


Input: Family-based association analyses demonstrated that SNPs in both GABRR1 and GABRR2 were significantly associated with alcohol dependence.

alcohol dependence

alcohol dependence


Input: However, somatic mutations of BRCA2 are extremely rare in sporadic cancers.

sporadic


Input: BHY, a bone-invasive oral cancer cell line, but not HNT, a noninvasive cell line, produced large amounts of IL-6.

HNT

oral cancer


Input: To determine if the (tttta) (n) repeat polymorphism in the promoter region of CYP11a gene is associated with hirsutism and hyperandrogenism in women from Spain.

hirsutism


Input: Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Aspartoacylase

Canavan Disease

Aspartoacylase

Canavan Disease


Input: MSX1, PAX9, and TGFA contribute to tooth agenesis in humans.

TGFA

tooth agenesis


Input: LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome.

LMNA

Malouf syndrome

LMNA

Malouf syndrome


Input: In contrast, conditional inactivation of Fig4 in Schwann cells causes demyelination and defects in autophagy-mediated degradation.

demyelination


Input: Hematologic toxicity such as neutropenia, thrombocytopenia, and anemia were not different by the three tSNPs or haplotypes (CGT, CAT, and CAC) of DCK.

DCK

anemia


Input: No methylated p16 sequences were detected in the peripheral plasma/serum of the six HCC cases without these changes in the tumor, in 38 patients with chronic hepatitis/cirrhosis, or in 10 healthy control subjects.

HCC

chronic hepatitis


Input: Regarding other fibrosis-associated genes (BMP-6, SMAD-3, CASP-3 and CASP-9, FASLG, NF-KB1, IL-1 and IL-2) as well as cellularity and cellular composition, no significant differences between obliterative airway remodelling in transplanted and non-transplanted patients could be shown.

fibrosis


Input: Total RNA isolated from frozen tendon samples (normal n = 14; chronic painful tendinopathy n = 10; ruptured n = 8) was assayed by relative quantitative reverse transcriptase polymerase chain reaction (RT-PCR) for total versican, versican variants V0, V1, V2, V3 and type I collagen alpha1 mRNA, normalized to glyceraldehyde-3-phosphate dehydrogenase (GAPDH).

GAPDH

painful


Input: Xanthine oxidoreductase has been proposed to play a role in the development of local and systemic effects of acute pancreatitis.

Xanthine oxidoreductase

acute pancreatitis


Input: To study the expression of mRNA for Kit ligand 1 (KL1), KL2, FSH receptor (FSHR), pregnancy-associated plasma protein (PAPP) and P450 in granulosa-lutein cells from IVF patients and its relationship with the infertility diagnosis and IVF outcome.

FSHR

infertility


Input: Male mice lacking GRTH are sterile, with spermatogenic arrest owing to the failure of round spermatids to elongate.

GRTH

sterile


Input: TRH and MK-771 offset the narcosis induced by pentobarbital in mice, whereas the C-terminal free acid derived from TRH, melanostatin, somatostatin and pyroglutamyl-histidineamide have been found inactive.

TRH

narcosis

TRH

narcosis


Input: Differential gene expression profile reveals overexpression of MAP3K8 in invasive endometrioid carcinoma.

endometrioid carcinoma


Input: Patterns of GATA3 and IL13 gene polymorphisms associated with childhood rhinitis and atopy in a birth cohort.

IL13 gene

atopy


Input: Intranasal administration of adenovirus expressing IL-17, IL-17C, or IL-17F resulted in bronchoalveolar lavage neutrophilia and inflammatory gene expression in the lung.

neutrophilia


Input: Immunohistochemistry for IMP3, CK8/18, and CK14 was performed on 39 cases of invasive breast carcinomas with BRCA mutation (24 BRCA1, 14 BRCA2, and 1 dual BRCA1/BRCA2) and 54 cases of sporadic invasive breast carcinomas.

sporadic


Input: Hereditary BRCA1, BRCA2, and non-BRCA1/2 tumors were characterized by shorter TL comparing to sporadic tumors.

sporadic


Input: Association of IL-13, RANTES, and leukotriene C4 synthase gene promoter polymorphisms with asthma and/or atopy in African Americans.

RANTES

atopy


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.

transthyretin

lung tumor

transthyretin

lung tumor


Input: NGF is also considered to be an inflammatory mediator associated with pain, itch and inflammation in adults.

NGF

itch


Input: An inverse relationship between PPT-A mRNA expression levels and lifetime antipsychotic treatment (Fluphenazine) in the schizophrenic and bipolar disorder groups was found.

PPT

bipolar disorder

PPT

bipolar disorder


Input: The beta1-and beta2-adrenergic receptors (betaARs) on the surface of cardiomyocytes mediate distinct effects on cardiac function and the development of heart failure by regulating production of the second messenger cyclic adenosine monophosphate (cAMP).

heart failure


Input: No satisfactory explanation for this epidemic is known, but it has been proposed that some facets of modern life tend to bias immune responses away from the Th1 cellular immune responses that protect against many infections and toward Th2 responses that favor atopy.

atopy


Input: Based on our finding that thiazolidinediones suppress beta-catenin and cyclin D1 by up-regulating the E3 ligase SCF (beta-TrCP), we hypothesized that beta-transducin repeat-containing protein (beta-TrCP) targets Sp1 for proteasomal degradation in response to glucose starvation or OSU-CG12.

cyclin D1

starvation


Input: A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis.

BOS

BOS


Input: The homologous regulation of hNPFF2 receptor correlates with our previous results in vivo showing that during inflammation, the up-regulation of neuropeptide FF mRNA precedes that of NPFF2 receptor.

inflammation


Input: Apart from the M1/M2 gene analysis, we demonstrate that the expression of Gpnmb and Spp1 is highly upregulated in both murine and human glioma-associated microglia/macrophages.

glioma


Input: A rat model of 30 min splanchnic arterial occlusion (SAO) was used to study the degradation of two mucin isoforms (mucin 2 and 13) and two epithelial membrane proteins (E-cadherin and toll-like receptor 4, TLR4).

E-cadherin

arterial occlusion


Input: There was no cross-sectional or longitudinal association between paraoxonase enzyme activity and coronary artery calcification (CAC), an early marker of cardiovascular disease, or its progression over 5 years.

CAC

coronary artery calcification


Input: However, the effect of hyperthermia on EMT of cancer cells is unknown.

EMT

hyperthermia


Input: Downregulation of IGF-IR transgene in MTB-IGFIR tumor-bearing mice leads to the regression of most of the tumors, followed by tumor reappearance in some of the mice.

IGF

regression


Input: The mutation, Phe229Leu in the EFHC1 gene was previously shown, in a carrier state, to be associated with juvenile myoclonic epilepsy.

juvenile myoclonic epilepsy

juvenile myoclonic epilepsy


Input: A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.

LMNA

mandibuloacral dysplasia

LMNA

mandibuloacral dysplasia


Input: Gene modified MSC expressing TRAIL were cocultured with different osteosarcoma, rhabdomyosarcoma, and Ewing' s Sarcoma (ES) cell lines assessing viability and caspase-8 activation.

MSC

rhabdomyosarcoma


Input: The PAX8-PPARG translocation was detected in 2/18 FTC (11. 1%).

PPARG

translocation


Input: PBP-deficient hepatocytes in liver failed to reveal PB-dependent translocation of CAR to the nucleus.

PBP

translocation


Input: Here, we knocked down SOD2 expression in AR-expressing LNCaP prostate cancer cells and determined gene expression changes, transcription factor binding, and AR transcription activity in SOD2 knockdown cells.

prostate cancer

prostate cancer


Input: They also suggest that p53 functional inactivation accounts for the cytokine hypersensitivity of JAK2 (V617F) MPN and might have a role in disease progression.

hypersensitivity


Input: Polymorphisms of LBP (rs1739654, rs2232596, rs2232618), CD14 (rs77083413, rs4914), TLR-4 (rs5030719), IL-6 (rs13306435) and TNF-α (rs35131721) were genotyped in 479 cases of sporadic colorectal carcinoma and 486 healthy controls of Han Chinese in a case-control study.

sporadic


Input: E1A, E1B double-restricted adenovirus enhances the cytotoxicity and antitumor activity of gemcitabine to renal cell carcinoma.

renal cell carcinoma


Input: Together, these data suggest that REST is responsible for the reduced expression of GluR2 in glioma cells.

glioma


Input: Histologic examination showed stepwise appearances of fibrosis, cirrhosis, HCA, and HCC at weeks 9, 20, 30, and 40, respectively.

HCC

fibrosis


Input: This report describes a male infant with partial trisomy 2q: 46, Y, der (X), t (X; 2) (p22. 3; q32. 1) mat.

partial trisomy


Input: OPRM1 is an attractive positional candidate gene for T2DM susceptibility since agonists of OPRM1 affect glucose-induced insulin release and OPRM1 knockout mice have a more rapid induction of insulin resistance than wild-type.

insulin resistance


Input: Using gene expression profiling, here we show that EGCG treatment of Her-2/neu-driven mammary tumor cells alters the expression of key regulators in the epithelial to mesenchymal transition (EMT) pathway, reducing invasive phenotype.

EMT

mammary tumor


Input: Thus, fibrate therapy, which reduces hepatic APOC3 transcription, may delay amyloid deposition in affected patients.

amyloid

amyloid


Input: Aspartate and glutamate transport was not detected in the R39C and K136E mutant forms of SLC17A5 protein associated with Salla disease, whereas H +/sialic acid co-transport activity corresponded to 30-50% of the recombinant wild-type protein.

Salla disease

Salla disease


Input: Overexpression of HER-2/neu is common in some nonendocrine tumors, frequently correlates with increased tumor aggressiveness, and can be used as a basis of treatment with trastuzumab.

aggressiveness


Input: DR4 and DR5 methylation was not frequent in cutaneous melanoma but on the contrary it was very frequent in uveal melanoma.

uveal melanoma


Input: Recently and in agreement with the theory that impaired angiogenesis can contribute to increased peripheral resistance and raised blood pressure (BP), an involvement of VEGF gene promoter polymorphisms in the pathophysiology of hypertension has been hypothesized.

VEGF

blood pressure


Input: Both TSLP and IL-31 stimulate sensory cutaneous neurons involved in the induction of itch.

TSLP

itch


Input: The same variants were common to fertile and infertile men, although partial DAZ deletions occurred only in infertile men, suggesting that those should only be used as a tool for infertility diagnosis when analysed in combination with haplogroup determinations.

DAZ

infertility


Input: The neurotrophic factor glial cell line-derived neurotrophic factor (GDNF) may have therapeutic potential for preventing and treating cocaine addiction.

glial cell line-derived neurotrophic factor

cocaine addiction

glial cell line-derived neurotrophic factor

cocaine addiction


Input: Anthropometric (weight, height and blood pressure) and metabolic measurements (plasma levels of glucose, cholesterol and triglycerides), and determination of beta3-AR, UCP1 and LPL genotypes by polymerase chain reaction followed by enzymatic digestion.

LPL

weight


Input: Gene expression microarray data from 443 lung adenocarcinoma patients, and tissue microarray data from 67 such patients, showed a strong correlation of expression between EGFR and SMURF2 at the messenger RNA and protein levels, respectively.

lung adenocarcinoma


Input: Decreased lectin-like oxidized LDL receptor 1 (LOX-1) and low Nrf2 activation in placenta are involved in preeclampsia.

preeclampsia


Input: This study did not provide evidence for the contribution of the PACAP gene to the etiology of schizophrenia or bipolar disorders in the Japanese population.

PACAP

bipolar disorders

PACAP

bipolar disorders


Input: Overall, our results defined miR-346 as an oncogenic miRNA in NSCLC, the levels of which contributed to tumor growth and invasive aggressiveness.

NSCLC

NSCLC


Input: We investigated the association of YWHAH with BP in a large sample, consisting of 1211 subjects from 318 nuclear families including 554 affected offspring.

YWHAH

BP

YWHAH

BP


Input: P = 0. 019) to predispose to CVS after adjusting for age, sex, hypertension or not, hyperlipemia or not, Fisher grade, and Hunt-Hess grade after SAH.

SAH

hyperlipemia


Input: In contrast, lung preconditioning with isoflurane anesthesia increases lung ECRG4 gene expression.

anesthesia


Input: Microgliosis, quantified with ionized calcium-binding adapter molecule 1 (Iba-1) staining, did not differ between groups, whereas plaque associated microglia was more abundant in J20 CNR2 (-/-) mice.

ionized calcium-binding adapter molecule 1

plaque


Input: All 11 exons of the GLUT4 gene from 30 British white subjects with NIDDM were amplified using the polymerase chain reaction and screened for nucleotide sequence variation using the single-stranded conformation polymorphism (SSCP) method.

NIDDM

NIDDM


Input: TGF-beta, EGF, and IGF-1 levels were also significantly increased in patients with PF compared with controls.

EGF

PF

EGF

PF


Input: CTGF expression was found by immunohistochemistry in bile duct epithelial cells, hepatic stellate cells, and hepatocytes in fibrotic liver tissue from patients with chronic hepatitis B infection.

CTGF

chronic hepatitis B

CTGF

chronic hepatitis B


Input: Next, we performed IF analyses of SPEF2 in respiratory cells from 189 individuals with suspected PCD and & lt; i & gt; situs solitus & lt;/i & gt;.

PCD

PCD


Input: Microsatellite instability is prone to occur in sporadic right colon carcinoma during tumor growth and is not associated significantly with mutations in the hMLH1 and hMSH2 mismatch repair genes or in the p53 gene.

p53 gene

sporadic


Input: Interleukin-1 receptor associated kinase M (IRAK-M) negatively regulates TLR signalling and inflammation.

IRAK-M

inflammation


Input: Either pharmacological reconstitution of FoxO1 activity using intravenous or inhaled paclitaxel, or reconstitution of the transcriptional activity of FoxO1 by gene therapy, restored the physiologically quiescent PASMC phenotype in vitro, linked to changes in cell cycle control and bone morphogenic protein receptor type 2 (BMPR2) signaling, and reversed vascular remodeling and right-heart hypertrophy in vivo.

heart hypertrophy


Input: We also showed that overexpression of Sirt3 using adenovirus inhibited HCC cell growth (two cell lines: HepG2 and HuH-7 cells) and induced apoptosis, which was evidenced by the increase of LDH leakage, enhancement of TUNEL-positive cells number and promotion of AIF translocation to nuclei.

HCC

translocation


Input: (1) Expressions of TLR4, levels of TNF-& #945; and MMP-9 were increased and the rate was rising from the control group, to SAP group and then to ACS group.

SAP

SAP


Input: In 7 (33. 3%) of the 21 heterozygous patients the PT 20210A allele was associated with the factor V Leiden mutation, in 1--with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR), and in 1--with lupus anticoagulant.

MTHFR

lupus anticoagulant


Input: PTEN (phosphatase and tensin homologue deleted on chromosome-10), a dual specificity phosphatase, is a tumor suppressor gene whose inactivation has been associated with many different types of cancer including prostate cancer.

tensin

cancer


Input: Mice lacking IRF3, IRF7, the kinase TBK1 or the type I IFN receptor were resistant to otherwise lethal cerebral malaria.

cerebral malaria


Input: These results suggest that autism may be accompanied by an activation of the monocytic (increased IL-1RA) and Th-1-like (increased IFN-gamma) arm of the IRS.

autism

autism


Input: Because diazepam binding inhibitor (DBI) and its processing products coexist with gamma-aminobutyric acid (GABA) in several axon terminals, DBI immunoreactivity was measured in the cerebrospinal fluid (CSF) of individuals suffering from various neuropsychiatric disorders, that are believe to be associated with abnormalities of GABAergic transmission.

DBI

abnormalities


Input: These results suggest that ERK1/2 pathway is involved in the up-regulation of VEGF expression ionizing radiation mediated by AP-1, which may lead to further neovascularization and proliferation of glioblastoma cells resistant to radiation therapy.

neovascularization


Input: Without exception, all were R132C (CGT--> TGT), which in sporadic astrocytomas accounts for < 5% of IDH1 mutations.

TGT

sporadic


Input: Changes in blood pressure, left ventricular mass, carotid intima-media thickness, body mass index, and waist circumference did not correlate with changes in the expression of renin-angiotensin system genes, CD14, leptin, and adiponectin receptors mRNA.

blood pressure


Input: In the current study, we report for the first time that METRNL alleviates inflammation and insulin resistance and induces fatty acid oxidation through AMPK or PPAR & #948;-dependent signaling in skeletal muscle.

METRNL

insulin resistance

METRNL

insulin resistance


Input: Thus, the induction of Smct1 by testosterone is a candidate mechanism underlying hyperuricemia in males.

hyperuricemia

hyperuricemia


Input: Both miR-219 and Dazap1 are putative markers of schizophrenia and bipolar affective disorder in humans.

schizophrenia

schizophrenia


Input: The current clinical findings and deletion of BMPR1A indicate a diagnosis of severe juvenile polyposis, but the existing macrocephaly and PTEN deletion also point to either CS or BRRS, which cannot be ruled out at the moment because of their clinical manifestation later in life and the de novo character of the deletion.

PTEN

juvenile polyposis

PTEN

juvenile polyposis


Input: Further data from quantitative real-time RT-PCR and Western blotting revealed that the adipokines tumor necrosis factor alpha (TNFalpha), interleukin-6 (IL-6), and leptin, which have been implicated in insulin sensitivity regulation, regulate the expression of STEAP4.

insulin sensitivity


Input: These include lamin A/C in autosomal dominant Emery-Dreifuss muscular dystrophy, SMN in spinal muscular atrophy, SIX5 in myotonic dystrophy, calpain3 in type 2A limb-girdle muscular dystrophy, PABP2 in oculopharyngeal dystrophy, androgen receptor in spinal and bulbar muscular atrophy and the ataxins in hereditary ataxias.

limb-girdle muscular dystrophy


Input: Genetic variants of the IL13 and IL4 genes and atopic diseases in at-risk children.

atopic


Input: Interestingly, BC2 showed weak cross-reactivity to pyruvate dehydrogenase complex-E2 (PDC-E2), another mitochondrial autoantigen found in primary biliary cirrhosis (PBC), and their kappa light chain genes have 95% homology with a light chain of the human anti-DNA antibody.

primary biliary cirrhosis


Input: In order to demonstrate the role of TAZ in LPA-stimulated tumorigenesis, the effects of LPA on TAZ expression and cell migration were determined by Western blotting and chemotaxis analyses in R182 human epithelial ovarian cancer cells.

TAZ

tumorigenesis


Input: There are synergistic and cumulative effects of 5G allele of PAI-1 polymorphism and C allele of IL-6 polymorphism with smoking in determining their associated risk with CAD.

smoking


Input: The effect of CHOP on the translocation and sequestration of Bcl-2 in the nucleus, which requires the binding of Bcl-2 to ASPP2, is also critical for ASPP2-induced autophagic apoptosis.

translocation


Input: We have studied 144 patients with STGD and 220 unaffected individuals ascertained from the German population, to complete a comprehensive, population-specific survey of the sequence variation in the ABCA4 gene.

STGD

STGD


Input: We sought to characterize the haplotype structure of IDE in detail and replicate the association of common variants with type 2 diabetes, fasting insulin, fasting glucose, and insulin resistance.

IDE

insulin resistance


Input: Marked bradycardia during sleep was observed after the 16th day of ACTH therapy.

ACTH

bradycardia

ACTH

bradycardia


Input: The IL-13 + 2044G/A polymorphism may be associated with atopy and EIB severity in Korean children with EIB, and thus could potentially be considered as a disease-modifying gene.

atopy


Input: We have screened the probands from nine unrelated Danish families with hypohidrotic ectodermal dysplasia for mutation in exon 1 of the EDA-gene by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP).

EDA

hypohidrotic ectodermal dysplasia

EDA

hypohidrotic ectodermal dysplasia


Input: We report the molecular characterization of 68 PFIC3 index cases enrolled in a multicenter study, which represents the largest cohort of PFIC3 patients screened for ABCB4 mutations to date.


Input: We report the in-vivo fusion of two Hodgkin lymphomas with golden hamster cheek pouch cells, resulting in serially-transplanted (over 5-6 years) GW-532 and GW-584 heterosynkaryon tumor cells displaying both human and hamster DNA (by FISH), lymphoma-like morphology, aggressive metastasis, and retention of 7 human genes (CD74, CXCR4, CD19, CD20, CD71, CD79b, and VIM) out of 24 tested by PCR.

metastasis


Input: Intestinal epithelial cell-specific PLD1 overexpression in Apc (Min/+) mice accelerated tumorigenesis with increased proliferation and nuclear β-catenin levels compared with Apc (Min/+) mice.

tumorigenesis


Input: Multiple mechanisms cause nearly universal dysfunction of BRCA1 and/or BRCA2 in hereditary and sporadic ovarian carcinoma.

sporadic


Input: Association of the manganese superoxide dismutase polymorphism with vasospastic angina pectoris.

manganese superoxide dismutase

vasospastic angina


Input: Minor cell populations expressing CD29, CD34, CD90, and CD117 against the background of CD133 expression were detected in cancer cells suspensions from the patients with colorectal adenocarcinoma.

colorectal adenocarcinoma


Input: This paper reviews the current advances in BRCA1/BRCA2 research: the structure of their genes and proteins, their mutation frequencies, their possible roles in both hereditary and sporadic breast cancers, and their functions in transcriptional regulation and DNA repair.

sporadic


Input: The autosomal recessive mouse mutation retinal degeneration 6 (rd6) causes small, white retinal spots and progressive photoreceptor degeneration similar to that observed in human flecked retinal diseases.

retinal diseases


Input: Our aims were to examine the impact of the CYP2B6 * 6 allele on ketamine plasma clearance and on adverse effects in chronic pain patients.

chronic pain


Input: The loss of PAR-1 in vivo significantly attenuated bleomycin-induced skin fibrosis.

fibrosis


Input: STC2: a predictive marker for lymph node metastasis in esophageal squamous-cell carcinoma.

esophageal


Input: BRCA2 and TP53 collaborate in tumorigenesis in zebrafish.

tumorigenesis


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

ischemia


Input: Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.

CD40 ligand

X-linked hyper IgM syndrome

CD40 ligand

X-linked hyper IgM syndrome


Input: There was a significant reduction in mTOR, p70S6K, eIF4B and p-eIF4B protein expression in MDD subjects relative to controls.

mTOR

MDD

mTOR

MDD


Input: Several reports have shown that urotensin 2 (UTS2) and its receptor (UTS2R) are involved in glucose metabolism and insulin resistance, which lead to development of type 2 diabetes mellitus (T2DM) in humans.

insulin resistance


Input: Vaspin mRNA was barely detectable at 6 weeks of age and it was abundantly and exclusively expressed in visceral WATs at 30 weeks of age, when OLETF rats reach their peak body weight.

Vaspin

body weight


Input: Compound heterozygosity (G71R/R140H) in the lecithin: cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.

LCAT

LCAT-deficiency

LCAT

LCAT-deficiency


Input: m (6) A can be demethylated by fat mass-and obesity-associated (FTO) protein and α-ketoglutarate-dependent dioxygenase alkB homolog 5 (ALKBH5) protein.

obesity


Input: Patients with GBA-associated parkinsonism exhibit varying parkinsonian phenotypes but tend to have an earlier age of onset and more associated cognitive changes than patients with parkinsonism without GBA mutations.

GBA

cognitive changes


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

cancers


Input: These data demonstrate that the PTEN-Akt-p53-miR-365-cyclin D1/cdc25A axis serves as a new mechanism underlying gastric tumorigenesis, providing potential new therapeutic targets.

tumorigenesis


Input: It has been reported that the nicotinic acetylcholine receptor (CHRNA4 and CHRNB2) genes might be associated with smoking behavior in several ethnic populations.

smoking behavior


Input: Hence, the lower expression of TASK-2 channel in APA cells can explain high aldosterone secretion in human primary aldosteronism despite the suppression of angiotensin II, hypertension, and hypokalemia.

APA

hypokalemia


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

depression

depression


Input: We demonstrate that a fifth gene, TINF2, is mutated in classical DC and, for the first time, in Revesz syndrome.

Revesz syndrome

Revesz syndrome


Input: Pure partial trisomy of 6p12. 1-p22. 1 secondary to a familial 12/6 insertion in two malformed babies.

partial trisomy


Input: We searched for SLC35D1 mutations in five families with SBD and 15 patients with other SSDD group diseases, including achodrogenesis type 1A, spondylometaphyseal dysplasia Sedaghatian type and fibrochondrogenesis.

SBD

SBD


Input: B-2A13 cells showed increased sensitivity to 0. 1 nM AFB1-induced neoplastic transformation and the formation of tumors in nude mice were observed at passage 30 (P30) while it occurred at P50 B-1A2 cells.

tumors


Input: Unexpectedly, COX-2 overexpression was found to protect, rather than sensitize, K14. COX2 mice to skin tumor development induced by an initiation/promotion protocol.

skin tumor


Input: Therefore, genes encoding IL-4 and IL-13 are candidates for predisposition to asthma and atopy.

atopy


Input: Chemokine CCL5/RANTES is highly expressed in cancer where it contributes to inflammation and malignant progression.

highly expressed in cancer

inflammation


Input: The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation.

HSAN IV

HSAN IV


Input: To elucidate the functions of CARM1 in tumorigenesis, we knocked out CARM1 from several breast cancer cell lines using Zinc-Finger Nuclease technology, which resulted in drastic phenotypic and biochemical changes.

tumorigenesis


Input: These results may have implications in better understanding the underlying epigenetic mechanisms in BRCA1 and BRCA2 oncosuppressors in sporadic ovarian cancer.

sporadic


Input: Here, we examined whether H. pylori Trx1 is a novel virulence factor associated with gastric tumorigenesis.

tumorigenesis


Input: In multivariate logistic regression analysis, CDX2 loss was associated with female gender [odds ratio (OR), 3. 32; P < 0. 0001], CIMP-high (OR, 4. 42; P = 0. 0003), high tumor grade (OR, 2. 69; P = 0. 0085), stage IV disease (OR, 2. 03; P = 0. 019), and inversely with LINE-1 hypomethylation (for a 30% decline; OR, 0. 33; P = 0. 0031), p53 expression (OR, 0. 55; P = 0. 011), and beta-catenin activation (OR, 0. 60; P = 0. 037), but not with body mass index, tumor location, microsatellite instability, BRAF, KRAS, PIK3CA, p21, or cyclooxygenase-2.

body mass index


Input: Since this discovery, the WNK-OSR1/SPAK-NCC signaling cascade has been shown to be involved not only in PHAII but also in the regulation of blood pressure under normal and pathogenic conditions, such as hyperinsulinemia.

SPAK

hyperinsulinemia


Input: We identified six new susceptibility loci associated with psoriasis in the Chinese study containing the candidate genes ERAP1, PTTG1, CSMD1, GJB2, SERPINB8 and ZNF816A (combined P & lt; 5 & #215; 10 & #8315; & #8312;) and replicated one locus, 5q33. 1 (TNIP1-ANXA6), previously reported (combined P = 3. 8 & #215; 10 & #8315; & #178; & #185;) in the European studies.

psoriasis

psoriasis


Input: Cox regression was used to estimate the risk for ESRD associated with hemostatic factors (factor VIIc, factor VIIIc, fibrinogen, von Willebrand factor, protein C, and antithrombin III).

antithrombin III

fibrinogen


Input: Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.

campomelic dysplasia

campomelic dysplasia


Input: Importantly, although ET-1 augments capsaicin-induced overt nociception and thermal hyperalgesia, potentiation of the former relies solely on ET (A) receptor-mediated signaling mechanisms, whereas both receptors contribute to the latter.

thermal hyperalgesia

thermal hyperalgesia


Input: We tested for an association between SNPs in MMP12 and asthma, including its severity, in a Japanese population (630 pediatric and 417 adult patients with atopic asthma and 336 children and 632 adults as controls).

atopic asthma


Input: Here, we studied phenotypes associated with mutations in the schizophrenia susceptibility gene dysbindin (dysb), in isolation or in combination with null alleles in the dysb network component Blos1.

schizophrenia

schizophrenia


Input: These data suggest that the receptor responsible for orphanin FQ/nociceptin-induced hyperphagia is encoded by the ORL1/KOR-3 clone.

orphanin FQ

hyperphagia


Input: Diagnostic and prognostic value of immunohistochemical expression of S100P and IMP3 in transpapillary biliary forceps biopsy samples of extrahepatic bile duct carcinoma.

extrahepatic bile duct carcinoma


Input: Sirt6 has also recently been demonstrated to attenuate cardiac hypertrophy, and Sirt7 is known to regulate apoptosis and stress responses in the heart.

cardiac hypertrophy


Input: To investigate the clinical prognostic value of protein tyrosine kinase 6 (PTK6) in patients with esophageal squamous cell carcinoma (ESCC), quantitative RT-PCR and Western blotting were utilized to measure the mRNA and protein expression levels of PTK6 in 29 and eight pairs of ESCC and peritumoral normal esophageal tissues, respectively.

esophageal


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

ASD

ASD


Input: Five patients from a family with Peters' anomaly and ARS were screened for mutations in the PITX2, CYP1B1 and FOXC1 genes by direct sequencing.

Peters' anomaly

Peters' anomaly


Input: Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

Dravet syndrome

Dravet syndrome


Input: Thyroid tumor cell lines (BCPAP [papillary thyroid cancer] and ML-1 [follicular thyroid cancer]) were cultured with estradiol with and without an estrogen receptor (ER) inhibitor (fulvestrant or ICI) and used to treat human umbilical vein endothelial cells (HUVECs).

papillary thyroid cancer


Input: Comparison between-634C/C and C/G + G/G groups revealed also a significant interaction between smoking and the IL6-634C/G genotype (p = 0. 007).

smoking


Input: Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.

galactosyltransferase I

progeroid variant of Ehlers-Danlos syndrome

galactosyltransferase I

progeroid variant of Ehlers-Danlos syndrome


Input: Endothelin-3 levels were enhanced by hypothalamic stimulation and by hemorrhage-induced hypotension and reduced by nitroprusside-induced hypotension.

hypotension

hypotension


Input: Zymosan-induced arthritis (ZIA), K/BxN serum-induced arthritis, and Freund' s complete adjuvant (CFA)-induced arthritis were generated in naive PAR-2 (-/-) mice and PAR-2 (+/+) littermates.

PAR

arthritis


Input: This review discusses the regulation of CCN2 by TGF-β and hypoxia, two critical determinants that characterize the disc microenvironment, and discusses known functions of CCN2 in the disc.

hypoxia


Input: In order to investigate the association of two CTLA4 polymorphisms (+ 49 A/G and-318 C/T) with multiple sclerosis, sporadic MS patients and healthy controls from Italy were genotyped through direct DNA sequencing.

sporadic


Input: Molecular analysis of the Ca2 + channelopathies will provide new insights into the role, function and pathology of these voltage-gated Ca2 + channels.

channelopathies


Input: Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.

glutathione synthetase

glutathione synthetase


Input: The results presented here provide evidence that metabolic disturbances of retinal and retinoic acid, due to abnormal splicing and functional disorder of NRDR, may be involved in cervical tumorigenesis.

NRDR

tumorigenesis


Input: We infected HCC cells (HepG2, Hep3B and Huh7) with an adenovirus expressing SPARC (AdsSPARC) to examine the role of SPARC expression on HCC cells and its effect on tumor aggressiveness.

HCC

adenovirus


Input: The prevalent FISH patterns were balanced disomy (40%) and trisomy (38%) for EGFR gene and chromosome 7 (40%), whereas balanced polysomy was seen in 13% and gene amplification was seen in 9% of the patients.

EGFR gene

trisomy


Input: Results from oligoarray expression analyses indicated that ITGA3, ITGA9, ITGB4, ITGB7 and MMP15 had significantly higher expression levels in MSI-H tumours versus MSS/MSI-L cancers, whereas COL12A1, CSPG2, FN1, MMP-7 and SGCE were down-regulated in tumours with high microsatellite instability when compared to the stable group.

microsatellite instability


Input: In this study, the expression and localization of cornifin-alpha/SPPR1 was examined in untreated and tumor promoter-treated mouse skin, hair follicles, and skin neoplasms.

cornifin

skin neoplasms


Input: Family-based methods were used to test association of the 387 loci with resting blood pressures (BPs) [systolic blood pressure (SBP) and diastolic blood pressure (DBP)] and the hypertension status (HT).

DBP

systolic blood pressure


Input: Therefore, one missense mutation (Thr831--& gt; Ala831) in the insulin receptor, as found in three patients, is possibly involved in the etiology of a subset of the 51 NIDDM patients.

insulin receptor

NIDDM

insulin receptor

NIDDM


Input: In this study, methylation levels of seven biomarkers (EOMES, GDF15, NID2, PCDH17, POU4F2, TCF21, and ZNF154) in 148 individuals-which including 58 urothelial cell carcinoma (UCC) patients, 20 infected urinary calculi (IUC) patients, 20 kidney cancer (KC) patients, 20 prostate cancer (PC) patients, and 30 healthy volunteers (HV)-were quantified by qMSP using the urine sediment DNA.

EOMES

carcinoma


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

SMC

fibrosis


Input: Similarly, in GEP tumors, a higher TS expression in poorly differentiated carcinomas than both WD-NEC and benign tumors (P < 0. 01) was found.

GEP

carcinomas


Input: These results suggest that the cytotoxic effects of CHK1 inhibitors are enhanced after reoxygenation following prolonged hypoxia, most likely due to the increased replication-associated DNA damage.

hypoxia


Input: The addition of enfuvirtide to the failing regimen induced at week 4 a viraemia decrease from 5. 1 to 4. 3 log (10)/mL (P = 0. 0002) and a CD4 increase from 48 to 106 cells/mm (3) (P = 0. 008).

viraemia


Input: A syndromic form of this disorder, Char syndrome, is caused by mutation in TFAP2B, the gene encoding a neural crest-derived transcription factor.

Char syndrome

Char syndrome


Input: Immunohistochemical analysis demonstrated that 221 (30%) of 749 GC cases were positive for HOXA10, whereas HOXA10 was scarcely expressed in non-neoplastic gastric mucosa except in the case of intestinal metaplasia.

non-neoplastic


Input: In primary mammary carcinomas, five (Angptl4, Coro1a, RGD1304982, Tmem37 and Ndn) of the 29 genes were methylated in one or more of 25 samples.

carcinomas

carcinomas


Input: Serum amyloid A induces G-CSF expression and neutrophilia via Toll-like receptor 2.

Toll-like receptor 2

neutrophilia


Input: The presence of cytogenetic aberrations on mesenchymal stem cells (MSC) from myelodysplastic syndrome (MDS) patients is controversial.

MSC

cytogenetic aberrations


Input: Early SLE disease onset, the presence of photosensitive rashes, anti-Ro/SSA, renal disease and high titers of antinuclear antibodies were the common features of complete C4 deficiency.

SSA

rashes


Input: Total human chorionic gonadotropin (hCG) and alpha-fetoprotein (AFP) were measured in maternal serum at 10-14 weeks of gestation from 53 pregnancies affected by trisomy 18, 42 cases with trisomy 13, 46 with Turner' s syndrome and 13 with other sex aneuploides.

AFP

trisomy 13


Input: These aggressive tumors were also characterized by overexpression of the integrin ligand periostin, and in some biopsies also of osteopontin and of the upstream Rac-regulator dedicator of cytokinesis 10 (DOCK10).

dedicator of cytokinesis 10

tumors


Input: We report on a patient with CD and LDD in whom a unique de novo germline missense mutation is present in the PTEN gene.

PTEN

CD

PTEN

CD


Input: Packaged AAV-hVEGF165 and AAV-TGF-β1 were co-transfected into the annulus fibrosus cells of degenerative intervertebral discs.

AAV

degenerative intervertebral discs


Input: PTEN (phosphatase and tensin homologue, deleted on chromosome 10) is a tumor suppressor with dual phosphatase activity and mutations of its gene, PTEN, have been associated with many sporadic cancers and heritable neoplasia syndromes, including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

tensin

cancers


Input: Enhanced serpinA1 expression was significantly associated with increased tumour size, advanced T stage, perineural invasion, lymphovascular invasion, lymph node metastases, and shorter overall survival.

lymph node metastases


Input: We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls.

POMC

skin color


Input: We compared the transduction efficiency of AAV2 vectors with an AAV2 capsid (AAV2/2) to AAV2 vectors pseudotyped with AAV5 (AAV2/5), AAV8 (AAV2/8) or bovine adeno-associated virus (BAAV) capsids, or an AAV2 capsid with an insertion of the low density lipoprotein receptor ligand from apolipoprotein E (AAV2apoE), on cultured islets, in the presence of helper adenovirus infection to speed expression of a GFP transgene.

low density lipoprotein receptor

adenovirus infection


Input: Interactions between dietary vitamin E intake and SIRT1 genetic variation influence body mass index.

body mass index


Input: This study identified, in the analyzed patient, a homozygous missense mutation in the ADAMTS18 gene, which was recently linked to Knobloch syndrome, a rare developmental disorder that affects the eye and the occipital skull.

ADAMTS18 gene

developmental disorder


Input: Decreased chemotactic response and expression of CD11a found in this experimental model of depression could be important mechanisms to induce impairment immune response in experimental and clinical depression.

clinical depression

clinical depression


Input: Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

HEXA

Tay-Sachs disease

HEXA

Tay-Sachs disease


Input: We conclude that the patient' s MCEE defect was responsible for the mild methylmalonic aciduria, confirming a partial requirement for the enzymatic activity in humans.

MCEE

mild


Input: These findings suggest that transcriptional silencing by DAX-1 plays a critical role in the pathogenesis of adrenal hypoplasia congenita.

adrenal hypoplasia congenita

adrenal hypoplasia congenita


Input: These results suggest that hepatic steatosis causes the enhancement of hepatic GLUT2 mRNA expression, which may be associated with gluconeogenesis and insulin resistance.

hepatic steatosis

hepatic steatosis


Input: Epstein-Barr virus (EBV) is also involved in PAL, similar to lymphomas in immunodeficient patients.

PAL

lymphomas


Input: The neu gene (also called erbB-2 and HER-2) encodes such a receptor tyrosine kinase whose oncogenic potential is released in the developing rodent nervous system through a point mutation.

nervous system


Input: Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.

insulin receptor

Donohue syndrome

insulin receptor

Donohue syndrome


Input: Eighths days after placement of the ligature, we evaluated several markers of inflammation such us (1) myeloperoxidase activity, (2) a cytokines and adhesion molecules expression, (3) NF-κB expression, (4) iNOS expression, (5) the nitration of tyrosine residues, (6) activation of the nuclear enzyme poly (ADP-ribose) polymerase, (7) apoptosis, and (8) the degree of gingivomucosal tissues injury.

NF-κB

adhesion


Input: 1 Urocortin is a vasodilator peptide related to corticotrophin-releasing factor, which may protect endothelial function during coronary ischemia-reperfusion (I-R).

Urocortin

ischemia


Input: The minor allele in FDFT1 was associated with advanced fibrosis in the non-steatotic but not in the steatotic subgroup.

fibrosis


Input: MRP5 mRNA expression in pancreatic adenocarcinoma cell lines correlated significantly with cellular sensitivity to 5-fluorouracil (5-FU) (r = 0. 738, p < 0. 05).

pancreatic adenocarcinoma


Input: In dry eye, 46 glycogenes were significantly downregulated, including five members of the Notch signaling pathway (Notch1, Notch 2, Notch 3, Jagged1, Delta1), four Wnt signaling molecules (Wnt4,-5A, Frizzled6,-7), and three heparan sulfate glycotransferases (HS2ST1, HS3ST6, EXTL2).

dry eye


Input: The effects of recombinant human soluble CD14 (rh-sCD14) on insulin sensitivity (clamp procedure) and adipose tissue gene expression were evaluated in wild-type (WT) mice, high fat-fed mice, ob/ob mice, and CD14 knockout (KO) mice.

insulin sensitivity


Input: We report here on eight unrelated individuals born to non-consanguineous families clinically diagnosed with DBS or wrinkly skin syndrome.

DBS

wrinkly skin syndrome


Input: In vitro, loss of REDD1 signaling promotes proliferation and anchorage-independent growth under hypoxia through mTORC1 dysregulation.

hypoxia


Input: These findings suggest that the CXCR3-associated chemokines, particularly CXCL10, may play an important role in the development of necroinflammation and fibrosis in the liver parenchyma in chronic HCV infection.

fibrosis


Input: The sporadic counterparts of these tumors also carry a high incidence of p53 mutations, suggesting that in these tissues p53 mutations are capable of initiating the process of malignant transformation.

sporadic


Input: IL-18 also increased the ratio of RANKL/OPG, suggesting that the net effect of IL-18 on FLS favors for the induction of osteoclast formation and bone resorption.

bone resorption


Input: Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung' s disease suggesting a role for imprinting.

RET proto-oncogene

familial medullary thyroid carcinoma

RET proto-oncogene

familial medullary thyroid carcinoma


Input: These results reveal that CFTR in keratinocytes plays a critical role for the regulation of peripheral nerve function and pruritus sensation, and suggest that Cftr (ΔF508/ΔF508) mice may serve as a novel mouse model that represents NGF-dependent generation of pruritus.

NGF

pruritus


Input: Racial differences in the association between body mass index and serum IGF1, IGF2, and IGFBP3.

body mass index


Input: IL-4 in combination with PGE2 may enhance estrogen production in endometriotic tissues, implying an elaborate mechanism that Th2 immune response augments inflammation-dependent progression of the disease.

inflammation


Input: The microphthalmia with linear skin defects (MLS) syndrome (MIM 309801) is a severe developmental disorder observed in XX individuals with distal Xp segmental monosomy.

MIM

developmental disorder


Input: No significant differences in allele and genotype frequencies of the htSNPs were observed between pituitary adenoma patients and controls, indicating that none of the individual PTTG1 SNPs examined in this study is associated with the risk of pituitary adenoma.

pituitary adenoma


Input: These observations establish human vascular EC, SMC, and human macrophages as a novel source of CD40L, and point to T cell-independent CD40 signaling, and a broader function of this pathway in regulation of nonimmune cells, as illustrated here by potential autocrine and paracrine activation during atherogenesis.

atherogenesis


Input: Based on these findings, CD4 + T cells with BCR-ABL specificity do not appear to be mediators of the anti-leukemia response in vivo after donor lymphocyte infusion.

leukemia


Input: GFAP gene activation and protein induction appear to play a critical role in astroglial cell activation (astrogliosis) following CNS injuries and neurodegeneration.

GFAP gene

neurodegeneration


Input: Furthermore, SEMA3B was upregulated in the SK-N-BE neuroblastoma cell line following induction of differentiation with retinoic acid.

neuroblastoma

neuroblastoma


Input: The aim of this study was to test whether the phenotypic expression of the LPL Asn291Ser variant is dependent upon glucose tolerance and insulin resistance.

LPL

insulin resistance


Input: Additionally, IGF2 methylation varies as a function of environmental influences and is associated with schizophrenia and MetS.

schizophrenia

schizophrenia


Input: Coexpression of IL-11Ralpha and gp130 was commonly observed in both benign ovarian tumors and in the epithelial layer of normal ovaries.

ovarian tumors

ovarian tumors


Input: We assessed single-nucleotide polymorphisms (SNPs; n = 42) in four of these key genes (JAG1, HES1, NOTCH3 and ADAM10) for association with diabetic nephropathy using a case-control design.

diabetic nephropathy


Input: A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.

Kenny-Caffey syndrome type 2

Kenny-Caffey syndrome type 2


Input: CD4 (+) cells were present in androgenised ovaries, especially in the granulosa cell layer of cysts with high VCAM-1 expression.

cysts


Input: In summary, we found that liver transplant recipients with IL-28B CC tended to have less advanced fibrosis prior to and significantly less after SOC treatment and that all recipients with IL-28B CC who achieved SVR had mild fibrosis at follow-up.

SOC

fibrosis


Input: Whether IL-2 is also required for autoimmune disease development is less clear as Il2 (-/) (-) mice themselves spontaneously develop multi-organ inflammation (MOI).

inflammation


Input: Treatment of minimal residual disease after surgery or chemotherapy in mice carrying HPV16-associated tumours: Cytokine and gene therapy with IL-2 and GM-CSF.

GM-CSF

minimal residual disease

GM-CSF

minimal residual disease


Input: This study supports the role of CYP1B1 as a causative gene in Peters anomaly.

Peters anomaly

Peters anomaly


Input: In animal models of hemorrhage and sepsis, CIRP is upregulated in the heart and liver and released into the circulation.

CIRP

hemorrhage


Input: This mutation was recently described in a family of Italian descent with CVT and Charcot-Marie-Tooth deformity HOXD10 gene mutations were not identified in any of the other families or sporadic patients with CVT, suggesting that genetic heterogeneity underlies this disorder.

HOXD10 gene

sporadic


Input: We analyzed the genomic instability phenotype by chromosome analysis of control and COX2 transfected metaphase-arrested MCF7 cells after Giemsa staining.

genomic instability


Input: To examine whether women with a personal or family history of preterm birth are more likely to have genetic variation in the human progesterone receptor (hPR).

progesterone receptor

preterm birth


Input: The variant allele of NFKB1-94 ins/del ATTG (rs28362491) polymorphism is associated with higher risk of sporadic CRC in Malaysian population.

sporadic


Input: Normal levels of the methyl CpG-binding protein 2 (MeCP2) are critical to neurologic functioning, and slight alterations result in intellectual disability and autistic features.

CpG-binding protein

intellectual disability


Input: Her son' s axial length was shortened with refractive errors of + 16. 75 dioptres in the right and + 14. 0 dioptres in the left eye; ERG evidenced a rod-cone dystrophy, OCT showed central macular thickening with cystoid changes and ultrasonography revealed optic disc drusen.

ERG

rod-cone dystrophy


Input: shRNA knockdown of NFAT5 suppressed the induction of Hsp70 protein and overexpression of NFAT5 stimulated the induction of Hsp70 mRNA and protein in models of human placental hypoxia in vitro.

hypoxia


Input: Following that, the recombinant adenovirus was transfected into the P-glycoprotein-producing multidrug resistance cell line, SMMC7721/ADM human HCC cells resistant to adriamycin (ADM) and daunorubicin (DNR).

HCC

adenovirus


Input: HO-1 induction prevented apoptotic liver injury, measured by inhibition of caspase 3 activation, although it did not protect mice from caspase-3-independent necrotic liver damage caused by concanavalin A (Con A) administration.

caspase 3

necrotic


Input: STWS patients may develop central adrenal insufficiency due to impaired LIF/LIFR signalling.

LIFR

central adrenal insufficiency


Input: We have employed a 4. 7-Tesla MRI instrument to determine whether a noninvasive imaging approach can reveal pathological changes in the nervous system of this animal model.

MRI

nervous system


Input: Six SGBS patients showed point mutations in GPC3.

SGBS

SGBS


Input: The aims of the present study were to investigate further genetic alterations in the BGP foci and to clarify the mechanism of' de novo' carcinogenesis.

BGP

carcinogenesis


Input: Fine-tuning of Drp1/Fis1 availability by AKAP121/Siah2 regulates mitochondrial adaptation to hypoxia.

hypoxia


Input: The expression of p42. 3 is upregulated in human gastric cancer (GC), but its underlying mechanisms of action are not well understood.

p42. 3

gastric cancer


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

ASD

ASD


Input: The epigenetic regulation of SPP1 was confirmed in vitro, and the functional impact of SPP1 protein on tumorigenesis-related signaling pathways was demonstrated.

tumorigenesis


Input: In CD206-DT receptor Tg mice given DT, endotoxin challenge exaggerated lung inflammation, including up-regulation of proinflammatory cytokines and increased histological lung damage, but the endotoxemia-induced increase in NF-κB activity was significantly reduced, suggesting that M2 phenotype-dependent counteraction of inflammatory insult cannot be attributed to the inhibition of the NF-κB pathway.

endotoxemia


Input: Knockout mice for the beta2 subunit have impaired neuronal survival in ageing.

ageing


Input: However, positive correlation is lost in metastatic tumors, suggesting that LOX expression is independent of a hypoxic environment at later stages of tumor progression.

LOX

hypoxic


Input: The FIP1L1-PDGFRalpha-associated patients diagnosed with CEL, frequently had hepatosplenomegaly, eosinophil-related tissue damage, anemia, thrombocytopenia, myelofibrosis and a short overall survival time.

hepatosplenomegaly


Input: If mutations in SP4 do cause retinal degenerative disease, their frequency would be low.

degenerative disease


Input: Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.


Input: The frequencies of HLA-DRB1 * 01 and HLA-B * 14: 02 were significantly lower in patients suffering from megacolon as well as in those with ECG alteration and/or megacolon compared with a group of patients with indeterminate symptoms.

HLA-B

megacolon


Input: To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for screening mutations in the factor XI (fXI) gene, we investigated three patients with heterozygous factor XI deficiency.

fXI

factor XI deficiency

fXI

factor XI deficiency


Input: Our results demonstrated that CD7 (+) AML expressed Ang-2 mRNA frequently and integrin-family adhesion molecules (CD11c and CD18) intensively, suggesting the close correlation with endothelial cells.

adhesion


Input: Multiple genes showed significant evidence of differential methylation, several appearing in both ulcerative colitis and Crohn' s disease comparisons including THRAP2, FANCC, GBGT1, DOK2, TNFSF4, TNFSF12, and FUT7.

FANCC

ulcerative colitis


Input: We therefore measured the gene and protein expression levels of proinflammatory cytokines interleukin (IL)-1β, IL-6, and tissue necrosis factor (TNF)-α in the prefrontal cortex (PFC) of 24 teenage suicide victims and 24 matched normal control subjects.

PFC

necrosis


Input: The bioinformatics data indicate that co-expression of both c-Myc and Pirh2 strongly correlated with poor survival of lung cancer patients.

lung cancer

lung cancer


Input: We demonstrate a previously unrecognized clinical presentation of factor V Leiden homozygosity with severe dyspnea and decreased pulmonary function.

factor V Leiden

pulmonary function


Input: In conclusion, dexamethasone is a valuable and cost-effective molecule for chondrogenic and viability induction of IVD cells under normoxic and hypoxic conditions, while insulin and T3 did not show significant differences.

IVD

hypoxic


Input: The aims of this study were to analyze the prognostic value of the expression of the protein tyrosine phosphatase non-receptor type 6 (PTPN6, also referred to as SHP1) in high-grade glioma patients, the epigenetic regulation of the expression of PTPN6, and the role of its expression in chemotherapy resistance in glioma-derived cells.

glioma


Input: Rats treated with AG (25 and 50 mg/kg), GED (2. 5 mg/kg), and 1400W (0. 1 mg/kg) showed decreased total ulcer length and MPO activity by 51, 72, 53, and 61% and by 58, 88, 68, and 70%, respectively, compared to INDO alone.

INDO

ulcer


Input: No significant differences in mRNA levels of c-fos, N-myc, N-ras, Ha-ras, c-erbA, c-erbB and c-abl were observed among the HCC, cirrhosis and normal-chronic hepatitis groups.

HCC

chronic hepatitis


Input: Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH.

ACTH

pituitary hormone deficiency


Input: Mutations in the human CRYM gene lead to non-syndromic deafness, and mutations in the Cryz gene of guinea pigs cause cataracts.

CRYM gene

deafness


Input: Patients with tachycardia or hepatotoxicity exhibited significantly higher TNF-alpha levels after ILP, compared with other patients.

TNF-alpha

tachycardia

TNF-alpha

tachycardia


Input: Recent studies have suggested that a missense Trp64Arg mutation in the beta3 adrenergic receptor (ADRB3) gene was involved in obesity and insulin resistance.

insulin resistance


Input: Here, we show that mutations of presenilin (PS) 1 and 2, which cause familial early-onset AD (FAD), induce more severe lysosomal system neuropathology in humans than does sporadic AD (SAD).

FAD

sporadic


Input: Transactive response DNA-binding protein 43 pathology occurs in FAD and DS, similar to that observed in sporadic Alzheimer disease.

FAD

sporadic


Input: IGF-II may therefore contribute to the mechanisms of neuroprotection by acting as an antioxidant, reducing the neurodegeneration induced by oxidative insults.

IGF-II

neurodegeneration

IGF-II

neurodegeneration


Input: The causes of chronic (CP) and recurrent acute pancreatitis (RAP) in children include anatomic abnormalities and hereditary, metabolic, and autoimmune disorders, with a significant proportion of cases being labeled as idiopathic.

RAP

recurrent acute pancreatitis


Input: Importantly, variations within the HHEX/KIF11/IDE and CDKN2A/B loci confer impaired glucose-and tolbutamide-induced insulin release in middle-aged and young healthy subjects, suggesting a role for these variants in the pathogenesis of pancreatic beta-cell dysfunction.

beta-cell dysfunction


Input: This pilot study explored the mechanism of these immunoglobulin preparations by measuring interleukin-10 (IL-10), monocyte chemoattractant protein-1 (MCP-1), IL-6 and tumour necrosis factor alpha (TNFalpha), before and after infusion and by assessing the effect of FcgammaRIIa and FcgammaRIIIa polymorphisms on both cytokine and haematologic responses to anti-D.

necrosis


Input: The clinical presentation of the KCTD17-mutated cases was distinct from the phenotype usually observed in M-D due to SGCE mutations.

M-D

M-D


Input: The novel mutation reported here, COL4A5 arg1677gln, has been detected in three independently ascertained Ashkenazi-American families, causes a relatively mild form of nephritis with typical onset in the fourth or fifth decade, and may be involved in the etiology of a large proportion of adult-onset hereditary nephritis in Ashkenazi Jews.

mild


Input: This dose of As2O3 significantly induced apoptosis and growth retardation of HNE1-LMP1 cells.

growth retardation


Input: Tumors manifesting monosomy-3 were also characterized by higher levels of TARBP2 and DDX17 and by lower levels of XPO5 and HIWI, miR biogenesis factors.

HIWI

monosomy


Input: The chromosomal translocation t (7; 11) (p15; p15), observed in human myeloid leukemia, results in a NUP98 and HOXA9 gene fusion.

chromosomal translocation


Input: Appropriate shock was more frequent in patients with SCN5A mutations than in those without (6. 6 ± 6. 2 vs 1. 7 ± 3. 0, P = 0. 007).

shock


Input: p53 tumor suppressor gene status and the degree of genomic instability in sporadic colorectal cancers.

p53 tumor suppressor gene

sporadic


Input: Here we showed that miR-100 downregulation in HCC tissues was significantly associated with venous invasion, advanced TNM stage, tumor nodule without complete capsule, poorer cell differentiation, and shorter recurrence-free survival.

HCC

nodule


Input: The course of HAV viremia in a homosexual male with human immunodeficiency virus type 1 (HIV-1) and the correlation between HIV and HAV viral load, alanine aminotranferase (ALT) level, and CD4 (+) lymphocyte count were investigated during the course of the infection.

viremia


Input: Jun-like immunoreactivity allows an evaluation of events at later recirculation intervals, and provides a clear demonstration of synthesis and accumulation of induced protein in CA1 neurons at 6 h following 2 min ischemia.

ischemia


Input: Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: Here we report two siblings with familial ACTH unresponsiveness who were discrepant for skin pigmentation and mineralocorticoid function.

ACTH

skin pigmentation


Input: As hypoxia is a stimulus in chronic tuberculosis infection, we analyzed transcriptional profiles of MTB subject to 168 hours of hypoxia to test the hypothesis that upregulation by hypoxia might result in gene products being recognized as antigens.

MTB

tuberculosis infection


Input: RT1 (u) rats, development of thyroiditis was prevented by the transfer of CD4 (+) CD45RC-and CD4 (+) CD8 (-) thymocytes from normal donors but not by CD4 (+) CD45RC + peripheral T cells.

thyroiditis


Input: We studied 337 infertile men with different spermatogenic impairment and 263 normozoospermic fertile men using AZFc specific sequence tagged site markers and DAZ specific single nucleotide variants.

DAZ

infertile


Input: HCC cells were infected with adenovirus carrying Mfn2 (Ad-mfn2) or green fluorescent protein (Ad-GFP), used as a control.

HCC

adenovirus


Input: Observed associations between serum CRP and insulin resistance, glycemia, and diabetes are likely to be noncausal.

CRP

insulin resistance


Input: However, both before and after adjustment for sex, age, age (2), body-mass index, current smoking, alcohol intake, and antihypertensive treatment, the alpha-adducin polymorphism was significantly (P < 0. 02) associated with central systolic blood pressure and central pulse pressure.

alpha-adducin

alcohol intake


Input: We determined the expression level and methylation status of DLEC1 in non-small-cell lung cancer (NSCLC), and the DLEC1 methylation in plasma DNA as a biomarker for NSCLC was further evaluated.

lung cancer


Input: Multiple myeloma patients with a methylated EGLN3 promoter showed trends towards an increased risk of death, bone lytic lesions, anaemia, advanced stage of disease and the presence of extramedullary disease.

anaemia


Input: Thus, while PKCepsilon is present in most dorsal root ganglion neurons, where it can contribute to acute mechanical hyperalgesia, priming is restricted to IB4 (+)-nociceptors, including those that are TrkA (+).

PKCepsilon

mechanical hyperalgesia

PKCepsilon

mechanical hyperalgesia


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

carcinomas

carcinomas


Input: Yfm1 deletions in the oligo-and azoospermic males were associated with other deletions that removed entire DAZ genes in those infertile men.

DAZ

infertile


Input: Our results suggest that CHRNA4 and CHRNB2 do not play a major role in Japanese schizophrenia.

schizophrenia

schizophrenia


Input: Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia


Input: This information allowed us to exclude a compound heterozygous deficiency state in a subsequent pregnancy using PCR/direct sequencing of the F7 gene using DNA obtained from chorionic villi at 10 weeks' gestation.

F7 gene

deficiency state


Input: Spindle cell lipoma (SCL) is a relatively uncommon, benign tumor that usually presents in the subcutaneous fat of adult men.

SCL

benign tumor


Input: Using data from the Collaborative Study on the Genetics of Alcoholism data set, we found evidence suggesting linkage disequilibrium between DRD2 and ADH3 and quantitative indices of alcoholism and correlated phenotypes corresponding to smoking and personality.

smoking


Input: The subjects included patients who fulfilled the diagnostic criteria of acute pyelonephritis (APN) and acute lobar nephronia (ALN) without underlying disease or structural anomalies (excluding vesicoureteral reflux).

ALN

vesicoureteral reflux


Input: In patients with TNFA-308 variant genotypes, the prevalence of flexural eczema was higher (48% and 57%) compared with that in patients presented with wild-type genotype (30%).

TNFA

flexural eczema


Input: We report on two germline mutations (p. Gly39dup and p. Val55Met) in RRAS, a gene encoding a small monomeric GTPase controlling cell adhesion, spreading and migration, underlying a rare (2 subjects among 504 individuals analysed) and variable phenotype with features partially overlapping Noonan syndrome, the most common RASopathy.

RRAS

Noonan syndrome

RRAS

Noonan syndrome


Input: There were significant relationship between HLA-DRB1 * 08, HLA-DRB1 * 09, HLA-DQB1 * 06 alleles and pneumoconiosis after adjusting age, smoking, beginning age of exposure and cumulative length of exposure with multivariate logistic regression analysis (OR: 7. 804, 0. 225, and 0. 269; 95% CI: 2. 077-29. 307, 0. 083-0. 609 and 0. 117-0. 613 respectively.

pneumoconiosis


Input: Notably, hypermethylation of RUNX3 appeared in 70% (14/20) of human hepatocellular carcinomas.

hepatocellular carcinomas

hepatocellular carcinomas


Input: The antihypertensive effect of calcitonin gene-related peptide in rats with norepinephrine-and angiotensin II-induced hypertension.

calcitonin

hypertension

calcitonin

hypertension


Input: GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

Charcot-Marie-Tooth disease type 4A

Charcot-Marie-Tooth disease type 4A


Input: The authors sequenced POLG1, C10ORF2, and ANT1 in 38 sporadic progressive external ophthalmoplegia patients with multiple mitochondrial DNA (mtDNA) deletions.

sporadic


Input: We have examined the expression of five VEGF receptors (VEGR1/Flt-1, VEGFR2/KDR, Flt-4, neuropilin-1 = NRP-1, NRP-2) in leukemic cells obtained from patients with acute myeloid leukemia (n = 28), chronic myeloid leukemia (n = 14), chronic eosinophilic leukemia (n = 3), chronic myelomonocytic leukemia (n = 9), or mast cell leukemia/systemic mastocytosis (n = 3) as well as in respective cell lines.

NRP

acute myeloid leukemia


Input: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common autosomal recessive disorder (MIM #201910) due to mutations in the 21-hydroxylase (CYP21) gene (GDB Accession #M12792).

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency


Input: Knockdown of IQGAP1 using siRNA and inhibition of the actin cytoskeleton blocked scratch injury-induced H2O2 production, Nox2 translocation and its interaction with actin, and EC migration toward the injured site.

translocation


Input: The present study demonstrates the clinical importance of CVL in combination with inherited thrombophilia in the development of thrombosis in pediatric-oncologic patients.

CVL

thrombophilia


Input: Inhibition of aneuploidy in PC-3 cells expressing DN-HSF1 was associated with delayed breakdown of cyclin B1 compared with controls, consistent with a role for wild type HSF1 in the regulation of cyclin B1 degradation, a key step in the control of mitosis.

aneuploidy


Input: In the present study, we investigated the mRNA expression levels of HIF-1 (& #945; and & #946;) and its target genes (VEGF, GLUT1, PGK1, PFKFB3, and LDHA) in the peripheral white blood cells of patients with major depressive disorder (MDD) and bipolar disorder (BPD).

bipolar disorder

bipolar disorder


Input: These include probes for all three genes whose polypeptide products combine to form the fibrinogen molecule as well as probes for the prothrombin, Factor IX, Factor VIII, and antithrombin III genes.

Factor VIII

fibrinogen


Input: To assess the functional significance of phospholipid hydroperoxidase glutathione peroxidase (PHGPx) under cryptorchidism, PHGPx expression was spatiotemporally analyzed in testes and epididymis excised at 1, 4, 7, 14, 21, and 28 days after experimental bilateral cryptorchidism in adult mice.

phospholipid hydroperoxidase

bilateral cryptorchidism

phospholipid hydroperoxidase

bilateral cryptorchidism


Input: Here we demonstrate that in vivo AAV-2-mediated gene transfer is efficiently inhibited by unfractionated heparin, but not by a heparin preparation containing mainly low-molecular-weight forms (LMWH).

AAV

weight


Input: Additionally, an odds ratio (OR) of 4. 53 (2. 62-7. 98) was discovered when investigating smoking and nonsmoking cases for the susceptible genotype CYP1B1 * 2/* 2, when compared with the presence of the genotype wild type.

smoking


Input: The apolipoprotein E and beta-fibrinogen G/A-455 gene polymorphisms are associated with ischemic stroke involving large-vessel disease.

apolipoprotein E

fibrinogen


Input: Using bisulfite sequencing, we determined that a 5'-non-coding DNA region (located at nt-1158 to-850, upstream of the DOK1 translation start codon) was extensively hypermethylated in primary serous EOC tumors compared with normal ovarian specimens; however, this hypermethylation was not associated with DOK1 suppression.

tumors


Input: We conclude that the majority of the molecular defects in G5 and G8 that cause sitosterolemia impair transport of the sterol transporter to the cell surface.

sitosterolemia

sitosterolemia


Input: In this study, we used a recombinant human soluble death receptor 5 (sDR5) to explore its effect in a mouse model of HBV-induced acute hepatitis.

death receptor 5

acute hepatitis


Input: Gaucher Disease type 1, the most prevalent lysosomal disease among Caucasians, is due to defects in the activity of acid beta-glucosidase.

acid beta-glucosidase

Gaucher Disease type 1

acid beta-glucosidase

Gaucher Disease type 1


Input: Based on these results, an influence of STMN1 should be considered in studies aiming at the etiopathogenesis of a broad range of neuropsychiatric disorders with dysfunctional networking, including neurodegenerative disorders as well as schizophrenia, autism spectrum disorders, anxiety disorders, depression, and ADHD.

depression

depression


Input: The Fisher exact test, Cochran-Mantel-Haenszel statistics, and Mann-Whitney U test were used to assess the effect of each SNP with respect to the following phenotypic manifestations: age at diagnosis, gender, affected eye, study and fellow eye visual acuity at diagnosis and at last follow-up, study eye best acuity during follow-up, presence of large drusen and retinal pigment epithelium (RPE) hyperpigmentation in study and fellow eye, choroidal neovascularization (CNV) angiographic subtype (classic vs occult), CNV size, presence of wet AMD in fellow eye, presence of dry AMD in fellow eye, and smoking history.

RPE

choroidal neovascularization


Input: Along with the progress of multistep carcinogenesis, the levels of HOXC5 expression of mRNA and protein significantly increased during the dysplasia (moderate to severe dysplasia) when compared with normal and hyperplasia.

hyperplasia


Input: Our recent microarray analysis suggested downregulation of three fibulins, FBLN1, FBLN4, and FBLN5, in prostate cancer, while two further ECM genes, SPOCK1 (testican) and TENC (tenascin C), appeared upregulated or unchanged.

prostate cancer

prostate cancer


Input: Our findings suggested that HECA, EBF1 and NOD2 were significantly hypomethylated, whereas MAP4K4, ZEB1 and FYN were hypermethylated, in atheromatous plaque lesions compared with plaque-free intima.

plaque


Input: We have investigated the clinical manifestations of cystic fibrosis, CFTR genetics and electrophysiology in a sibpair in which the brother is being treated as having CF, whereas his sister is asymptomatic.

CFTR

asymptomatic


Input: Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24. 3-p24. 2.

essential tremor


Input: In this study, we performed whole exome sequencing of individuals with West syndrome and identified three WDR45 mutations in three independent males (patients 1, 2 and 3).

West syndrome

West syndrome


Input: Children with the Hp1/1 genotype had a significantly lower rate of nonmalarial fever (P =. 001).

fever


Input: Moreover, a supermultiplicative interaction between the CTLA-4 49AA genotype and smoking plus drinking was also evident in intensifying risk of pancreatic cancer (P (interaction) = 5. 64 × 10 (-12)).

drinking


Input: We investigated loss of heterozygosity (LOH) at chromosome 11q13 in the spectrum of " marker/premalignant " and " malignant " lobular lesions of the breast, including atypical lobular hyperplasia (ALH), lobular carcinoma in situ (LCIS), and infiltrating lobular carcinoma (ILC).

ILC

premalignant


Input: Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.

beta-mannosidase

beta-mannosidosis

beta-mannosidase

beta-mannosidosis


Input: This study asks if, in Pet-1 (-/-) mice over development: 1) the respiratory instability leads to hypoxia; 2) greater bradycardia is related to the degree of hypoxia or concomitant hypopnea; and 3) hyperthermia exacerbates bradycardias.

hypoxia


Input: In invasive ductal carcinoma, ChREBP correlated significantly with mean' downregulated' hypoxia scores (r = 0. 3, P < 0. 015, n = 67) and in two distinct breast progression arrays, ChREBP protein also increased with malignant progression (P < 0. 001).

ChREBP

hypoxia


Input: Cognitive performance in elderly women: significance of the 19bp insertion/deletion polymorphism in the 5' flank of the dopamine beta-hydroxylase gene, educational level, body fat measures, serum triglyceride, alcohol consumption and age.

dopamine beta-hydroxylase

alcohol consumption


Input: Single nucleotide polymorphisms (SNP) at SERPINA12 (vaspin) gene locus were discovered, and five SNP were genotyped in the subjects with varied body mass index (n = 1138).

vaspin

body mass index


Input: We examined the expression of alpha 1, alpha 2, alpha 3, alpha 4, alpha 5 and beta 1 integrin on 36 transitional cell cancers (TCCs) in the bladder by immunohistochemistry.

alpha 4

cancers


Input: In this study, we addressed the role of glucose concentration in the diabetic range of > or = 11 mM, i. e., hyperglycemia per se, as a cause of the lack of response to GIP.

GIP

hyperglycemia


Input: The TCL1 expression and EBV status of 14 sporadic pediatric BL cases was determined by immunohistochemical staining for TCL1 and in situ hybridization for EBV-encoded RNA (EBER).

sporadic


Input: A previous study has suggested that a G to A base change at position 169 of the GHRH-receptor gene in human somatotrophinomas is a mutation and confers hypersensitivity to GHRH.

GHRH

hypersensitivity


Input: showed the classic bleeding symptoms together with absence of platelet agglutination to restocetin plus von Willebrand factor, whereas aggregation to ADP, collagen, and arachidonic acid was normal.

ADP

bleeding


Input: Region specific decrease in glial fibrillary acidic protein immunoreactivity in the brain of a rat model of depression.

glial fibrillary acidic protein

depression

glial fibrillary acidic protein

depression


Input: A significant correlation between BAL CCL5, CCL11, and IL-5 levels and eosinophils in patients with pulmonary fibrosis due to SM gas inhalation has been demonstrated, suggesting that these C-C chemokines and IL-5 contribute to the recruitment of eosinophils cells in the lung in these victims.

pulmonary fibrosis

pulmonary fibrosis


Input: Because the lack of CRIP1 expression in breast cancer tissue is significantly associated with a worse prognosis for patients and low endogenous CRIP1 levels in vitro increased the malignant potential of breast cancer cells, we hypothesize that CRIP1 may act as a tumor suppressor in proliferation and invasion processes.

breast cancer


Input: The results suggest that our sample of young adult TxN adults with alcohol dependence do not have global deficits in decision making as measured by the SGT, and that their poor decisions regarding their alcohol consumption are more specific to drinking.

SGT

alcohol dependence


Input: Although no genome-wide significant markers were identified, the combined GWAS findings have pointed to several genes of interest that support GWAS findings for BD from other groups or consortia, such as at SYNE1 on 6q25, PPP2R2C on 4p16. 1, ZNF659 on 3p24. 3, CNTNAP5 (2q14. 3), and CDH13 (16q23. 3).

BD

BD


Input: Taken together, the findings suggest that ZNRD1 could act as a modulator of methotrexate chemotherapy in gastric cancer cells through the regulation of IMPDH2 and Bcl-2.

gastric cancer


Input: As far as we know, this is the fifth report of a 46, X, idic (Y) (p11. 32) karyotype and the first presentation with mixed gonadal dysgenesis and isodicentric Y.

mixed gonadal dysgenesis


Input: Vascular endothelial growth factor acts in an autocrine manner in rhabdomyosarcoma cell lines and can be inhibited with all-trans-retinoic acid.

Vascular endothelial growth factor

rhabdomyosarcoma

Vascular endothelial growth factor

rhabdomyosarcoma


Input: Here, we describe a 4-year-old girl with typical features of ATRX syndrome, carrying the recurrent R246C mutation of ATRX.

ATRX

ATRX syndrome

ATRX

ATRX syndrome


Input: Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

pyruvate dehydrogenase complex deficiency

pyruvate dehydrogenase complex deficiency


Input: Hereditary alpha 2-plasmin inhibitor deficiency caused by a transport-deficient mutation (alpha 2-PI-Okinawa). Deletion of Glu137 by a trinucleotide deletion blocks intracellular transport.

alpha 2-PI

alpha 2-plasmin inhibitor deficiency

alpha 2-PI

alpha 2-plasmin inhibitor deficiency


Input: Restoration of HIC1 function in breast cancer cells leads to a reduction in tumor growth in vivo, an effect that can be partially rescued by co-overexpression of ephrin-A1.

breast cancer

breast cancer


Input: In contrast to sporadic tumors, however, where allelic imbalance at the BRCA1 and BRCA2 loci correlated well with relative copy number losses by FISH, a simple reduction to a single copy (average copy number ratio 2: 1) was found in only two BRCA1 (12%) and four BRCA2 (50%) tumors.

sporadic


Input: Homozygotes of the AGTR1 A1166 allele (n = 13) had a greater decrease in systolic (-9. 1 +/-4. 7 vs 1. 1 +/-3. 3 mm Hg; p = 0. 04 by analysis of variance [ANOVA], adjusting for dose) and diastolic blood pressure (-5. 1 +/-1. 5 vs 1. 9 +/-1. 9 mm Hg; p = 0. 005 by ANOVA, adjusting for dose) compared with C1166 allele carriers (n = 18) following 2 weeks of treatment.

ANOVA

diastolic blood pressure


Input: We report that LPP3 is expressed in vascular SMC after experimental arterial injury.

arterial injury


Input: The aim of the present study was to determine the role of topoisomerase & #160; 1 & #160; (TOP1) and topoisomerase & #160; 2A & #160; (TOP2A) in liver cancer & #160; (LC), and to investigate the inhibitory effect of nitidine chloride (NC) on these two topoisomerases.

liver cancer

liver cancer


Input: Localization of angiogenin in human control eyes and in eyes with choroidal neovascularization was determined using immunohistochemistry.

angiogenin

choroidal neovascularization


Input: We investigated the expression and role of the 5-HT transporter (5-HTT) and 5-HT1B, 5-HT2A, and 5-HT2B receptors in lungs and isolated PA-SMCs from patients with primary PH (n = 14), pulmonary veno-occlusive disease (n = 4), or secondary PH (SPH, n = 8) and nonpulmonary hypertensive control subjects.

secondary


Input: Recent data allow identification of four subgroups of MM in which GEP is highly correlated not only with different clinical characteristics and outcome but also with different cytogenetic abnormalities.

GEP

cytogenetic abnormalities


Input: The occurrence of an APP T174I mutation is described in a large American family of African descent with Alzheimer disease.

APP

Alzheimer disease

APP

Alzheimer disease


Input: Overexpression of Mcl-1 and synthesis of non-functional Bax may be responsible for the resistance of CTCL cells to the anti-cancer drugs chlorambucil and sulindac.

CTCL

CTCL


Input: Long non-coding RNA LOC100507600 functions as a competitive endogenous RNA to regulate BMI1 expression by sponging miR128-1-3p in Hirschsprung' s disease.

Hirschsprung' s disease

Hirschsprung' s disease


Input: The induction of AT2 oligomers in a transgenic mouse model with AD-like symptoms was associated with Galphaq/11 dysfunction and enhanced neurodegeneration.

neurodegeneration


Input: The diagnosis of L2HGA can be made based on magnetic resonance imaging (MRI), biochemical analysis, and mutational analysis of L2HGDH.


Input: Then 257 patients were given 6-MP at 15-80 mg/day in a stepwise manner based on RBC 6-TGN, white blood cell count, and body weight to monitor 6-MP efficacy and safety profiles.

TGN

body weight


Input: We found that OXT induces the migration of PC3 and PC3M, but not DU145 prostate cancer cells.

OXT

prostate cancer


Input: Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absent speech, and stereotypic hand movements.

ARX

absent speech


Input: Our results, based on meta-analysis, joint analysis and replication analysis, suggest that TBL1X may play a role in ASD risk.

ASD

ASD


Input: Of particular interest, BRCA1 gene induces the expression of genes encoding DNA repair proteins RAD21 and MSH2, ERBB2/HER2 interacting protein ERBIN, meningioma-associated protein MAC30, and a candidate ovarian tumour-suppressor OVCA1.

meningioma


Input: The Wallerian degeneration slow strain (& lt; i & gt; WldS & lt;/i & gt;) of mice is resistant to some forms of axonal degeneration because of a triplicated fusion gene encoding the first 70 amino acids of Ufd2a, a ubiquitin-chain assembly factor, that is linked to the complete coding sequence of nicotinamide mononucleotide adenylyltransferase 1 (NMAT1).

Wallerian degeneration

Wallerian degeneration


Input: The genotype and allele frequency distributions showed no significant difference in EcoR I, Xba Iand 3'-VNTR loci of ApoB gene between the osteonecrosis group and control group.

ApoB gene

osteonecrosis


Input: In zebrafish, antisense-mediated chsy1 knockdown causes defects in multiple developmental processes, some of which are likely to also be causative in the etiology of TPBS.

TPBS

TPBS


Input: For the pathogenesis of endolymphatic hydrops resulting in vertigo attacks in patients with DEH as well as MD, pAVP may represent a matter of consequence, but V2R overexpression in the endolymphatic sac could be much more essential as a basis for these diseases.

endolymphatic hydrops


Input: RA-V inhibits breast cancer cell migration, adhesion and ECM degradation in vitro, implying that RA-V is a potential anti-metastatic agent in breast cancer, and likely acts via PI3K/AKT and NF-κB signaling pathways in both ER-positive and ER-negative breast cancer cells.

AKT

adhesion


Input: The BH3-only protein, PUMA, is involved in oxaliplatin-induced apoptosis in colon cancer cells.

BH3-only protein

colon cancer


Input: In conclusion, the present observations disclose the transcription of three distinct SGK1 splice variants, which are all markedly upregulated in tumor tissue but differentially upregulated following differentiation or hypoxia.

hypoxia


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

GAD

caffeine


Input: Analyses of congenic mice indicated that at least two loci, Psl1. 1 and Psl1. 2, map to distal chromosome 9 and confer susceptibility to skin tumor promotion by TPA.

skin tumor


Input: VDR was not independently associated with body mass index, family history of colorectal cancer, tumor location (colon versus rectum), stage, tumor grade, signet ring cells, CIMP, MSI, LINE-1 hypomethylation, BRAF, p53, p21, beta-catenin, or cyclooxygenase-2.

body mass index