Input: In those cells, RHOB deficiency causes hypersensitivity to BRAF and MEK inhibitors-induced apoptosis.

RHOB

hypersensitivity


Input: Lysophosphatidic acid (LPA) is present at high concentrations in ascites from ovarian cancer patients and has potent mitogenic properties in vitro.

LPA

ascites


Input: Linkage between the insulin-like growth factor 2 receptor (IGF2R) gene and the tissue overgrowth was also excluded.

overgrowth


Input: The present work demonstrates the existence of a db/db-specific up-regulation of adipocyte autotaxin expression, which could be related to the severe type 2 diabetes phenotype and adipocyte insulin resistance, rather than excess adiposity in itself.

autotaxin

insulin resistance


Input: We demonstrate that an Mre11-mediated DDR restrains mammary hyperplasia by effecting an oncogene-induced G2 arrest.

hyperplasia


Input: Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.

familial HDL deficiency

familial HDL deficiency


Input: Hypoxia-induced recruitment of α (6) β (4) toward raft-located C4. 4A, MT1-MMP, and TACE allows for a shift from adhesion to motility, which is supported by laminin degradation.

C4. 4A

adhesion


Input: Mechanistically, secreted LOX is responsible for the invasive properties of hypoxic human cancer cells through focal adhesion kinase activity and cell to matrix adhesion.

LOX

hypoxic


Input: Here, we report that GRK3-/-mice exhibit numerous features of human WHIM, such as impaired CXCL12-mediated desensitization, enhanced CXCR4 signaling to ERK activation, altered granulocyte migration, and a mild myelokathexis.

myelokathexis


Input: However, expression of CXCR7 provides cells with a growth and survival advantage and increased adhesion properties.

adhesion


Input: It was observed that H2AX gene expression was negatively correlated with miR-24-2 expression and not in accordance with the gene copy number status, both in cell lines and in sporadic breast tumor tissues.

breast tumor

breast tumor


Input: In the present study, the relationship between the CYP2C19 polymorphism and personality traits was examined in 487 Japanese healthy volunteers.

personality traits


Input: Indoleamine 2, 3-dioxygenase, an immunomodulatory protein, is suppressed by (-)-epigallocatechin-3-gallate via blocking of gamma-interferon-induced JAK-PKC-delta-STAT1 signaling in human oral cancer cells.

Indoleamine 2, 3-dioxygenase

oral cancer


Input: The levels of TP53, BRCA1 and TERT were assessed in 55 sporadic colorectal tumors and 37 normal mucosas using tissue microarrays and immunohistochemical detection, and their associations with DNA aneuploidy, levels of mitotic spindle proteins AURKA, AURKB, MAD2L1 and BUB1B and clinicopathological parameters were investigated.

sporadic


Input: In conclusion, we did not confirm that the genomic mutation of the FSH receptor is a major genetic cause in Korean infertile patients with high FSH levels.

FSH receptor

infertile


Input: Epistatic interactions between BANK1 and BLK polymorphisms associated with SLE were observed in a discovery set of 279 patients and 515 controls from northern Europe.

SLE

SLE


Input: The intronic single-nucleotide polymorphism (SNP) rs780094 (intron 16) and the missense SNP rs1260326 (P446L) in the GCKR gene are strongly associated with increased circulating triglyceride and C-reactive protein levels and, paradoxically, reductions in diabetes incidence, fasting glucose levels, and insulin resistance.

C-reactive protein

insulin resistance


Input: The SNPs most strongly implicated in bipolar alcoholism, but, which did not meet conventional genome-wide significance criteria were the insulin-like growth factor-binding protein 7, carboxypeptidase O, cerebellin 2, and the cadherin 12 genes.

cadherin 12

alcoholism

cadherin 12

alcoholism


Input: Similarly to WNT5A knockdown, knockdown of the WNT receptors FZD7 and RYK inhibited growth, sensitized melanoma cells to BRAFi, and reduced AKT activation.

RYK

melanoma


Input: In non-carriers, FVIII was statistically significantly correlated with BMI, activated partial thromboplastin time (APTT), VWF antigen, hs-CRP and fibrinogen.

FVIII

fibrinogen


Input: Using small interfering RNA silencing of protein expression in highly invasive MDA-MB-231 breast adenocarcinoma cells, we show that HDAC6 is required for two-dimensional matrix proteolysis.

breast adenocarcinoma


Input: Upon intravenous challenge with 60 MID50 of pathogenic SHIV-89. 6PD, all monkeys became infected; however, in contrast to the naive and mock-immunized monkeys, four of five mimotope-immunized monkeys experienced lower levels of peak viremia, followed by viral set points of undetectable or transient levels of viremia and a mild decline of CD4 + T cells, and were protected from progression to AIDS-like illness.

viremia


Input: There was a high proportion of PRRT2 mutations found in families and sporadic cases with PKD associated with migraine or HM (10 out of 28).

sporadic


Input: The patient' s findings of coloboma and renal dysfunction suggested that she had RCS, and genetic analysis revealed a PAX2 heterozygous mutation in exon 2 (c. 76dup, p. Val26Glyfsx27) without any mutations of COL4A3, COL4A4, and COL4A5, which are responsible for autosomal and X-linked Alport syndrome.

RCS

coloboma


Input: These data indicate that systemic AAV/IL-10 gene delivery, with resulting inhibition of inflammation and oxidative stress, was able to limit atherogenesis, and suggest that this approach is worthy of further study.

AAV

inflammation


Input: Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.

SGSH

mucopolysaccharidosis III A

SGSH

mucopolysaccharidosis III A


Input: The untreated CKD rats exhibited azotemia, hypertension, hypertriglyceridemia, proteinuria, glomerulosclerosis, tubulointerstitial damage, upregulation of MCP-1, plasminogen activator inhibitor-1 (PAI-1), transforming growth factor (TGF)-beta, cyclooxygenase (COX)-1, COX-2, and NAD (P) H oxidase (NOX-4, gp91 (phox), p47 (phox) and p22 (phox) subunits) and activation of NF-kappaB (IkappaB phosphorylation).

COX

hypertriglyceridemia


Input: The fundus of gp130 (F/F)/Tff2 (-/-) mice displayed glandular atrophy and metaplasia, indicating accelerated preneoplasia.

atrophy


Input: To investigate the role of TIP30 in apoptotic signal pathway in hepatoblastoma cells and to provide a basis for TIP30 as a gene therapy candidate in the regression of hepatoblastoma cells.

regression


Input: To find improved tools for prognostic evaluation in patients with colorectal cancer (CRC), we have analysed how infiltration of cytotoxic T lymphocytes (CD8 (+)) and regulatory T lymphocytes (FoxP3 (+)) correlates to prognosis, not only according to quantity and relation, but also to subsite within tumours of different molecular characteristics (microsatellite instability and CpG island methylator phenotype status).

microsatellite instability


Input: The aim of this study was to investigate the possible presence of NOTCH2 variants in patients with primary open-angle glaucoma (POAG).

primary open-angle glaucoma


Input: Interleukin-1 receptor antagonist reduced apoptosis and attenuated intestinal mucositis in a 5-fluorouracil chemotherapy model in mice.

Interleukin-1 receptor antagonist

mucositis

Interleukin-1 receptor antagonist

mucositis


Input: PRC also orchestrates a robust response to metabolic stress by promoting the expression of multiple genes specifying inflammation, proliferation, and metabolic reprogramming.

PRC

inflammation


Input: We previously showed that induction of LPL mRNA by peroxisome proliferator-activated receptor (PPAR) alpha and gamma agonists or an LPL selective inducer suppresses both high serum lipid levels and intestinal polyp formation in these model animals.

PPAR

intestinal polyp


Input: The GSTT1 genotype variant increased the risk of primary dysmenorrhea (GSTT1: OR = 1. 83, 95% CI 1. 04-3. 21).

primary dysmenorrhea


Input: We assessed levels of factor VIII, factor IX, fibrinogen, protein C, protein S, antithrombin, the presence of prothrombin 20210A, and the occurrence of VTE in 61 first-degree relatives of 12 selected thrombophilic families harbouring FVL, and 183 first-degree relatives of 47 unselected families of FVL carriers with a first VTE.

factor VIII

fibrinogen


Input: Here we present four novel PAX6 missense mutations, two in association with atypical phenotypes: ectopia pupillae (displaced pupils) and congenital nystagmus (searching gaze), and two in association with more recognizable aniridia phenotypes.

aniridia

aniridia


Input: Peroxisome proliferator-activated receptor alpha regulates skin inflammation and humoral response in atopic dermatitis.

Peroxisome proliferator-activated receptor alpha

atopic dermatitis

Peroxisome proliferator-activated receptor alpha

atopic dermatitis


Input: BMSCs transfected with adenovirus-mediated human urokinase plasminogen activator (Ad-uPA) were transplanted into rats with CCl4-induced liver fibrosis.

adenovirus


Input: We have evaluated immunohistochemical expression of BRCA2 protein and allelic loss of markers at the BRCA2 locus in tissue derived both from sporadic and from familial cases of prostate cancer.

sporadic


Input: The present study examined whether hypolipidemic therapy with a potent HMG CoA reductase inhibitor, simvastatin, compromises the adrenal response to ACTH stimulation in adult patients with heterozygous familial hypercholesterolemia.

ACTH

familial hypercholesterolemia


Input: We demonstrate that transfection with an androgen receptor (AR) expression vector of the androgen-independent (AI) prostate cancer cell line PC3 decreases invasion and adhesion of these cells through modulation of alpha6beta4 integrin expression.

androgen receptor

adhesion


Input: In order to examine the transforming potential of the K-fgf gene in the nervous system, we combined retrovirus-mediated transfer of the K-fgf oncogene with a single transplacental exposure of the donor animals to the neurotropic carcinogen N-ethyl-N-nitrosourea (NEU).

NEU

nervous system


Input: Having documented COX deficiency histochemically and biochemically in the muscle biopsy from a patient with exercise-induced recurrent myoglobinuria, the authors sequenced the three mitochondrial DNA (mtDNA)-encoded COX genes, and performed restriction fragment length polymorphism analysis and single-fiber PCR.

COX

recurrent myoglobinuria


Input: Since both DNA repair capacity and p53 status can significantly alter radiation sensitivity, we evaluated these factors along with radiation sensitivity in a panel of sporadic human ovarian carcinoma cell lines.

sporadic


Input: Moreover, EOC cells display a marked increase in LOX-dependent FAK/AKT activation and cell migration following hypoxia/reoxygenation.

LOX

hypoxia


Input: The lysosomal cysteine proteinases, cathepsins B and L, have been associated with tumor invasiveness and the aim of this study was therefore to evaluate them, together with their endogenous inhibitors stefin B and cystatin C, as potential markers for the aggressiveness of meningiomas.

stefin B

aggressiveness


Input: To address the relationship between the expression level of these genes and colorectal tumorigenesis, we studied BRCA1, BRCA2 and hMSH2 mRNA expression by real-time quantitative RT-PCR in 72 colorectal Lieberkühnien adenocarcinomas and matched normal mucosa.

tumorigenesis


Input: In contrast, analysis of V beta 8 + CD4 + T cells from the blood of an individual with a marked bias for peripheral blood V beta 8 + T cells demonstrated no evidence of oligoclonality, suggesting that the stimulus for circulating biased V beta-specific T cells in sarcoidosis may derive from a different, perhaps superantigenic, origin.

sarcoidosis


Input: To examine association of polymorphic markers of I/D gene of angiotensin-converting enzyme (ACE), C (-344) T gene of aldosterone synthetase (CYP11B2) and 4a/4b gene of endothelial synthetase of nitric oxide (NOS3) with clinical picture of chronic glomerulonephritis (CGN).

chronic glomerulonephritis


Input: Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

facioscapulohumeral muscular dystrophy 2

facioscapulohumeral muscular dystrophy 2


Input: The vast majority of patients with ARPKD carry mutations in the recently characterized PKHD1 gene on chromosome 6p12.

ARPKD

ARPKD


Input: Mutations in the FSH receptor gene are not a common cause of infertility in ICSI candidates.

FSH receptor

infertility


Input: Cell division cycle associated 2 (CDCA2) recruits protein phosphatase 1 to chromatin to antagonize activation of ataxia telangiectasia mutated (ATM)-dependent signal transduction.

telangiectasia


Input: The relationship between XRCC3 gene polymorphism and susceptibility to lead poisoning in male lead-exposed workers was analyzed.

lead poisoning

lead poisoning


Input: To investigate the associations of uncoupling protein (UCP) 2 and UCP3 gene variants with overweight and related traits, we genotyped UCP2-866G > A, UCP2Ala55Val, and UCP3-55C > T in 737 Korean children and 732 adults and collected data regarding anthropometric status and blood biochemistry.

UCP3 gene

overweight


Input: Incubation with interleukin-2 further increased the cytotoxic activity against EpCAM-positive ovarian cancer cell lines.

EpCAM

ovarian cancer

EpCAM

ovarian cancer


Input: Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection.

MNK

Menkes disease

MNK

Menkes disease


Input: Npc1 (-/-) mice responded to a copper-deficient diet with a decrease in copper content in the liver, bile and heart.

liver

liver


Input: In recent years an increasing number of brain malformations has been associated with mutations in tubulin genes: malformations of cortical development such as lissencephaly and various grades of gyral disorganization, focal or diffuse polymicrogyria and open or closed-lips schizencephaly as likely consequences of an altered neuronal migration process; abnormalities or agenesis of the midline commissural structures (anterior commissure, corpus callosum and fornix), hypoplasia of the oculomotor and optic nerves, dysmorphisms of the hind-brain as expression of axon guidance disorders.

neuronal migration

malformations of cortical development


Input: Clonal sequences recovered from plasma from patients with residual HIV-1 viremia and on intensified antiretroviral therapy are identical to replicating viral RNAs recovered from circulating resting CD4 + T cells.

viremia


Input: Ovotestes and XY sex reversal in a female with an interstitial 9q33. 3-q34. 1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

sex reversal


Input: These findings suggest that hypoxia stimulates MDA231 cells to release CTGF as an angiogenic modulator, which initiates the invasive angiogenesis cascade by modulating the balance of extracellular matrix synthesis and degradation via MMPs secreted by endothelial cells in response to CTGF.

CTGF

hypoxia


Input: Several pathogenic mutations in GCDH have been reported to cause GAI.

GCDH

GAI

GCDH

GAI


Input: We conclude that in this population the plasma Lp (a) concentration is not predicted by the plasma lipid profile, alcohol intake, or smoking status but is predicted, albeit incompletely, by the length polymorphism of the APO (a) gene.

APO

alcohol intake


Input: We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study.

underweight


Input: Our study suggests that reduced expression of cystatin B in esophageal-carcinoma tissue is associated with lymph-node metastasis and may therefore prove to be a useful marker for predicting the biologic aggressiveness of human esophageal carcinoma.

cystatin B

aggressiveness


Input: Reductions in FAT and phosphorylation abnormalities correlated with motor neuron functional deficits.

FAT

abnormalities


Input: Diabetes increased the expression and immunoreactivity of KIF1A and KIF5B in the hippocampus, but no alterations in dynein were detected.

Diabetes

Diabetes


Input: Genotype profiles for GLAST; N-methyl-d-aspartate-receptor subunits NR1, NR2A, and NR2B; MGLUR5; NNOS; PRKG2; CAMK4; the regulatory subunit of PI3K; and CREB were analyzed for association with alcohol dependence using multivariate statistical analysis.

CREB

alcohol dependence

CREB

alcohol dependence


Input: Thus, it is unlikely that PTPN11 is one of the genes underlying stature variations in the general population.

stature


Input: These studies were extended to characterize the role of methylation of the RAR-beta gene in murine lung cancers.

RAR-beta

lung cancers

RAR-beta

lung cancers


Input: We have observed a severe atypical neuropathy (SAN) in patients with small non-cleaved-cell (SNCL) and large-cell lymphoma (LCL) treated with intensive chemotherapy and hematopoietic colony-stimulating factors (CSFs).

SAN

neuropathy


Input: In conclusion, we show that alterations of the SDHD gene seem to be involved in the tumorigenesis of both midgut carcinoids and Merkel cell carcinomas.

SDHD gene

tumorigenesis


Input: The transcript levels of the HSP90 isoforms HSP90α, HSP90β, glucose-related protein 94, and TNF receptor-associated protein 1 were significantly increased in PET compared with non-neoplastic pancreatic tissues.

non-neoplastic


Input: This review first presents current evidence for the peripheral inflammation/nerve injury-induced change in the expression of two types of noncoding RNAs, microRNAs, and Kcna2 antisense RNA, in pain-related regions, particularly in the dorsal root ganglion.

inflammation


Input: Several lines of evidence have suggested that substance abuse is mediated by the dopaminergic rewarding system, primarily through the activity of the dopamine receptor D1 (DRD1).

substance abuse


Input: Therefore, Kv1. 3 may serve as a novel molecular target for breast cancer therapy while its stage-specific expression pattern may provide a potential diagnostic marker for breast cancer development.

Kv1. 3

breast cancer


Input: XBP1 confers an important role in protection against oxidative stress in gliomas, potentially via up-regulation of antioxidant molecules such as catalase.

gliomas

gliomas


Input: During the peak month of the 2011 outbreak, 45 GAS isolates recovered from pediatric patients and 13 (43. 3%) GAS isolates recovered from 30 asymptomatic student contacts were characterized by emm typing, superantigen profiles, pulsed-field gel electrophoresis genotypes, mutilocus sequence typing and antimicrobial susceptibility.

GAS

asymptomatic


Input: We conclude that the activation of TRPV1 channels by capsaicin prevented adipogenesis and obesity.

obesity

obesity


Input: In summary, Possession of-173 G → C substitution and-794 non-CATT (5) carrier in the MIF promoter region are associated with increased susceptibility to non-cardia gastric cancer.

MIF

gastric cancer


Input: Studies using inhibitors of phosphatidylinositide 3-kinases have indicated that production of PtdIns (3) P is important for a variety of vesicle-mediated trafficking events, including endocytosis, sorting of receptors in multivesicular endosomes, and transport of lysosomal enzymes from the trans-Golgi network (TGN) to the endosomes and lysosomes.

TGN

vesicle


Input: EPMR patients were homozygous for a missense mutation (70C--& gt; G, R24G) that was not found in homozygosity in 433 controls. We also cloned the mouse Cln8 sequence.

EPMR

EPMR


Input: Both glioma and infiltrating M/MΦ cells express the Ca (2 +)-activated K (+) channel (KCa3. 1), and the inhibition of KCa3. 1 activity on glioma cells reduces tumor infiltration in the healthy brain parenchyma.

KCa3. 1

glioma


Input: Reduced expression of ß-catenin target genes is consistent with the Nup98 reduction and the galectin-3-nucleus translocation rate.

translocation


Input: By screening the hTR gene, we identified mutations in two of 17 patients with idiopathic aplastic anaemia, three of 27 patients with constitutional aplastic anaemia, but in none of 214 normal controls (p & lt; 0. 0001).

hTR

idiopathic aplastic anaemia

hTR

idiopathic aplastic anaemia


Input: Mutations in AP5Z1, encoding a subunit of the AP-5 complex, have been reported to cause hereditary spastic paraplegia (HSP), although their impact at the cellular level has not been assessed.

spastic paraplegia


Input: We demonstrated by qRT-PCR that PSA-RP2 is upregulated in prostate cancer compared with benign prostatic hyperplasia tissues.

prostate cancer


Input: These results demonstrate that calcilytics can reverse almost all the phenotypes of ADH including hypercalciuria and renal calcification, and suggest that calcilytics can become a novel therapeutic agent for ADH.

ADH

hypercalciuria


Input: We investigated 11 patients with the dyad of' paraganglioma and gastric stromal sarcoma'; in eight (from seven unrelated families), the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively).

SDHD

paraganglioma and gastric stromal sarcoma

SDHD

paraganglioma and gastric stromal sarcoma


Input: In JD40 and ST486 cells, the amplified c-myc sequences were found on high-molecular-weight chromosomes ST486 cells also contained translocated C-myc sequences in low-molecular-weight, extrachromosomal DNA, as did CA46 cells.

C-myc

weight


Input: Our findings provide evidence that GPR109A is a target for the drug Fumaderm and suggest that niacin should be investigated to treat psoriasis in addition to its role in treating lipid disorders.

lipid disorders


Input: Also, expression of IFN-γ of non-necrotizing granulomas was significantly higher than that of necrotizing granulomas in the hyperplasia group, and expression of TGF-β in necrotizing granulomas was significantly higher than that of non-necrotizing granulomas in the necrosis group.

IFN

hyperplasia


Input: Matrilysin gene expression in sporadic and familial colorectal adenomas.

Matrilysin

sporadic


Input: PLK1 overexpression is a negative prognostic factor in patients suffering from non-small cell lung cancer, head and neck tumors, esophageal carcinomas and melanomas.

esophageal


Input: SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.

hereditary hypophosphatemic rickets with hypercalciuria

hereditary hypophosphatemic rickets with hypercalciuria


Input: A model for GFR alpha 4 function and a potential modifying role in multiple endocrine neoplasia 2.

alpha 4

multiple endocrine neoplasia


Input: Therefore, PKP2 variants in Brugada Syndrome cases should be interpreted carefully and additional studies including family segregation should be performed before translation into clinical practice.

Brugada Syndrome

Brugada Syndrome


Input: Cyclin E is deregulated in cancer and appears as low-molecular-weight (LMW) isoforms that correlate strongly with decreased survival in breast cancer patients.

Cyclin E

weight


Input: The random forest analysis demonstrated that only clinical covariates were important in the prediction of growth response in mild GHD (> 4 to < 10 μg/L on GH stimulation test), however, in severe GHD (≤ 4 μg/L) several SNPs contributed (in IGF2, GRB10, FOS, IGFBP3 and GHRHR).

mild


Input: Among the panel of ESCC cell lines, TE14 showed the highest MRP2 mRNA expression along with the strongest resistance to CDDP.

ESCC

ESCC


Input: High levels of saturated NEFA, such as palmitate, when combined with hyperinsulinemia, may activate human monocytes to produce proinflammatory cytokines and support the development and propagation of the subacute, chronic inflammatory state that is characteristic of insulin resistance.

NEFA

insulin resistance


Input: Taken together, these findings suggest that CpG methylation and MBD2 are involved in altering Scn3a expression during postnatal development and seizure condition.

seizure


Input: Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN).

HBOC

HBOC


Input: These are: (i) low relative resting metabolic rate (RMR, relative to the average predicted rate for body size), (ii) low level of spontaneous physical activity (SPA), (iii) high 24 h respiratory quotient (RQ) and (iv) high insulin sensitivity (IS).

SPA

insulin sensitivity


Input: In about a decade, mutations in 8 different genes (IPF1, EIF2AK3, GK, FOXP3, KCNJ11, ABCC8, PTF1A and GLIS3) have been discovered in patients with the permanent form of the disease, and 3 genetic abnormalities (defects in the paternally imprinted chromosomal region 6q24 and' mild' activating mutations in KCNJ11 or ABCC8) have been detected in subjects with transient neonatal diabetes.

mild


Input: Having a high IGF-I/IGFBP-3 ratio was associated with increased persistence of oncogenic HPV infection [that is, a lower rate of clearance; adjusted hazard ratio (AHR), 0. 14; 95% confidence interval (95% CI), 0. 04-0. 57], whereas IGFBP-3 was inversely associated with both the incident detection of oncogenic HPV (AHR, 0. 35; 95% CI, 0. 13-0. 93) and the incidence of oncogenic HPV-positive cervical neoplasia (that is, squamous intraepithelial lesions at risk of progression; AHR, 0. 07; 95% CI, 0. 01-0. 66).

IGF-I

squamous intraepithelial lesions


Input: This review focuses on providing an overview of the role of RhoA/Rho kinase in currently available animal models of pulmonary hypertension.

Rho kinase

pulmonary hypertension


Input: We took advantage of highly efficient adeno-associated virus-mediated (AAV-mediated) gene transfer into mouse muscle to induce a robust and sustained secretion of mouse erythropoietin in beta-thalassemic mice, which represent a suitable model for human beta-thalassemia intermedia.

AAV

beta-thalassemia intermedia


Input: We therefore determined in nine patients with hereditary angioneurotic oedema (HANE) with obvious quantitative or functional defects of C-1-INA, and one further patient with Quincke-type oedema of different origin, the coagulation factors of the initial phase such as Hageman factor, plasma thromboplastin antecedent (PTA) and high molecular weight kininogen (HMWK).

INA

oedema


Input: Patch clamp of cultured endothelial cells exposed to hypoxia showed that upregulation of SUR1 was associated with expression of functional SUR1-regulated NC (Ca-ATP) channels.

hypoxia


Input: Here, we investigated the effects of FKBP12. 6 over-expression and gender on Ca (2 +)-handling proteins (RyR2, SERCA2a/PLB, and NCX), and on pro-(CaMKII, Cn/NFAT) and anti-hypertrophic (GSK3β) signalling pathways in a thoracic aortic constriction (TAC) mouse model.

PLB

thoracic


Input: A total of 105 sporadic breast carcinomas were analysed for LOH in the regions of BRCA1, BRCA2, TP53, Caveolin1, " putative BRCA3 ", PTEN, ATM and E-cadherin and correlated it with clinicopathological features.

sporadic


Input: Thirty days after administration, changes in paw swelling, arthritis index (AI), pulmonary function, levels of serum gamma-interferon (IFN-gamma) and interleukin (IL)-4, Tregs in peripheral blood, and IFN-gamma, IL-4, Forkhead box transcription factor 3 (FoxP3) in lung tissue were observed by enzyme-linked immunosorbent assay, flow cytometry, polymerase chain reaction, and western blot.

pulmonary function


Input: rs3812704 upstream of NEUROG3 significantly increased risk for type 2 diabetes in normal-weight/lean subjects (OR = 1. 68 (95% CI 1. 25-2. 24), P = 4. 9 × 10 (-4)).

weight


Input: Importantly, we found that the effects of CD40L can be transmitted between HUVECs and monocytic THP1 cells through intercellular CD40-CD40L interaction and these processes are augmented under hypoxia.

hypoxia


Input: However, little is known about the role of ZFX in tumorigenesis.

ZFX

tumorigenesis


Input: Given the considerable evidence that anxiety and depression are closely linked with abnormalities in sleep, the data presented here provide further evidence that neurotensin and Ntsr1 may be a component of a pathway involved in both sleep and mood disorders.

neurotensin

depression

neurotensin

depression


Input: Furthermore, there was a greater accumulation of fibrillar collagen fibres within the vascular wall and plaque in diabetic Nox4 (-/-) ApoE (-/-) mice, indicative of plaque remodeling.

plaque


Input: Hemodynamic deficit was less severe in VEGF-transfected animals by calf systolic blood pressure ratio (0. 80 +/-0. 09 versus 0. 56 +/-0. 10, P <. 01) and by flow to the ischemic limb measured with Doppler guidewire (resting flow = 22 +/-5 versus 14 +/-4; P <. 01; hyperemic flow = 59 +/-17 versus 39 +/-12 mL/min; P <. 05).

VEGF

systolic blood pressure


Input: In this study we present evidence for linkage of five IRS-related traits [body mass index (BMI), waist circumference (WC), In split proinsulin (LSPI), In triglycerides (LTG), and high-density lipoprotein cholesterol (HDLC)] to a region at 7q11. 23.

LTG

waist circumference


Input: Our results suggest that the HspA2, like Hsp70 protein, can be involved in protecting nucleoli and centrosomes integrity in cancer cells subjected to heat shock and, possibly, other cellular stressors.

shock


Input: The translocation between chromosomes 12 and 22 was confirmed by FISH analysis and the hybrid EWS/ATF-1 transcript induced by this translocation was detected by RT-PCR.

EWS

translocation


Input: The expression of EMT-related proteins and epidermal growth factor receptor was evaluated by immunohistochemistry of liver tissues from 102 patients with hepatolithiasis, 32 patients with post-hepatitis cirrhosis, and 48 normal livers.

EMT

hepatolithiasis


Input: Using this as a model, we found a predominant role for the Th17 signature cytokines IL-17A, IL-17F, and IL-22 in psoriasiform plaque formation in mice.

plaque


Input: Genomic structure of the EWS gene and its relationship to EWSR1, a site of tumor-associated chromosome translocation.

chromosome translocation


Input: This review will focus on the clues linking p53 to the etiology of PD and the evidences that this protein may be at the center of multiple signaling cascades not only altered by mutations of various proteins responsible for familial cases of PD but also on more general sporadic cases of this devastating disease.

sporadic


Input: Infantile onset spinocerebellar ataxia (IOSCA) (MIM 271245) is a severe autosomal recessively inherited neurodegenerative disorder characterized by progressive atrophy of the cerebellum, brain stem and spinal cord and sensory axonal neuropathy.

MIM

sensory axonal neuropathy


Input: To study the genetic defects, which caused problems in spermatogenesis, we screened the point mutations of the FSH receptor gene in infertile men with high serum FSH concentrations.

FSH receptor

infertile


Input: peanut dust levels and FLG mutations on peanut sensitization and peanut allergy.

FLG

peanut allergy


Input: The level of apoptosis and necrosis was increased significantly with GSTP1 antisense vector transfection.

necrosis

necrosis


Input: During radiation-induced T-cell leukemogenesis, high levels of LYAR were expressed in preleukemic thymocytes and in acute T leukemia cells.

LYAR

leukemogenesis


Input: TDP-43 is not only a pathological hallmark, but also a genetic cause for ALS.

ALS

ALS


Input: The BRCA1 gene encodes a tumor suppressor that is mutated in 50% of familial breast cancers.

breast cancers

breast cancers


Input: However, it resulted from the activation of a phosphatidylinositol 3-kinases-like mitogen-activated protein kinase pathway, as assessed by the fact that LY294002 and U0126 restored high Cdx2 expression in hypoxia.

hypoxia


Input: Stimulation of macrophages with a set of cytokines and with hypoxia revealed that IL-4, IL-13, LPS and hypoxia further increase the ALOX15B mRNA.

hypoxia


Input: NIPP1/EZH2 knockdown in HCC cell lines under hypoxia suppressed the malignant phenotypes, reduced the expression of hypoxia-inducible Factor 1α, downstream molecules of EZH2, and inhibit the activity of inflammatory factors.

hypoxia


Input: In chronic myeloid neoplasm with eosinophilia and abnormalities of PDGFRA the FIP1L1-PDGFRA fusion gene can be detected.

PDGFRA

abnormalities


Input: The head CT-scan and magnetic resonance imaging (MRI) disclosed a hypoplastic corpus callosum and an enlargement of the lateral ventricles.

MRI

enlargement


Input: Administration of NOD1 ligand (DAP) significantly enhanced myocardial I/R injury, as demonstrated by increased infarct size, the number of TUNEL-positive nuclei, caspase-3 activity, the infiltration of Mac-2-and IL-6-positive cells as compared with untreated heart or cardiomyocytes after I/R injury.

infarct


Input: TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.

Neuroaxonal Dystrophy

Neuroaxonal Dystrophy


Input: During prolonged hypoxia, down-regulation of miR-21 proved necessary and sufficient for enhancing expression of both proteins.

hypoxia


Input: The presence of iNOS in mitochondria of human HCC cells phenotype probably concurs to a more aggressive behaviour of cancer cells.

HCC

aggressive behaviour


Input: Hsp90-β and annexin A1 have been demonstrated to be associated with tumorigenesis.

annexin A1

tumorigenesis


Input: We have identified a t (8; 9) (p21-23; p23-24) in seven male patients (mean age 50, range 32-74) with diverse hematologic malignancies and clinical outcomes: atypical chronic myeloid leukemia/chronic eosinophilic leukemia (n = 5), secondary acute myeloid leukemia (n = 1), and pre-B-cell acute lymphoblastic leukemia (n = 1).

secondary acute myeloid leukemia


Input: The aim of the present study was to determine the possible effect of ApoE gene polymorphism on spinal bone mineral density and metabolic bone markers in Greek women.

ApoE gene

bone mineral density


Input: Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.

X-linked myotubular myopathy

X-linked myotubular myopathy


Input: PTD-FNK (a total of 30 microl) was injected intramuscularly into the anterior wall of the left ventricle either at 1 min after induction of global ischemia (group A) or at 30 min after induction of global ischemia (at 5 min before reperfusion) (group B).

FNK

ischemia


Input: Deficiency of synapsin II resulted in reduced mechanical and cold allodynia in two models of peripheral neuropathic pain.

synapsin II

allodynia

synapsin II

allodynia


Input: Relation of weight maintenance and dietary restraint to peroxisome proliferator-activated receptor gamma2, glucocorticoid receptor, and ciliary neurotrophic factor polymorphisms.

glucocorticoid receptor

weight


Input: Only 4 (13%) sporadic adenomas showed nuclear p53 staining, but no p53 mutations were detected in exons 5 to 8.

sporadic


Input: We showed that the repression of PIM1 in astrocytoma cancer cells by miR-124-3p suppressed proliferation, invasion, and aerobic glycolysis and promoted apoptosis.

astrocytoma


Input: The associations between the methylation of selected DMCpGs with childhood obesity were validated using sodium bisulfite pyrosequencing across loci within the FYN, PIWIL4, and TAOK3 genes in individual subjects.

childhood obesity


Input: Whether ERK1/2/p27 signal pathway is involved in CGRP-mediated pathogenesis of pulmonary hypertension and vascular remodeling remains unknown.

vascular remodeling


Input: Trisomy 3 was observed only in angioimmunoblastic lymphadenopathy with dysproteinemia (AILD)-type PTL, T-zone lymphoma, and lymphoepithelioid lymphoma.

PTL

lymphoepithelioid lymphoma


Input: Using immunohistochemistry these proteins were mostly localized to myometrial and fibroid SMC.

SMC

fibroid


Input: We identified that several members of the CCN (Cyr61/connective tissue growth factor/nephroblastoma-overexpressed) family are up-regulated following Cx43 expression, including CCN3 (NOV).

nephroblastoma


Input: To see whether APOBEC3B is overexpressed in other common cancers at the protein level, we investigated APOBEC3 protein expression in 100 gastric, 103 colorectal and 107 prostate cancer tissues as well as in 10 breast cancers by immunohistochemistry using antibody that could detect APOBEC3B, APOBEC3F and APOBEC3D proteins.

cancers


Input: The sex-specific association of Met62Ile gene polymorphism in P-selectin glycoprotein ligand (PSGL-1) with carotid plaque presence: preliminary study.

plaque


Input: To identify genes participating in axonal regeneration, we characterized mRNA expression profiles in dorsal root ganglia (DRG) before and after sciatic nerve transection.

DRG

axonal regeneration


Input: Well-differentiated liposarcomas (WDLPS) classically contain high-level amplification of 12q14-15 sequences, including the MDM2 and CDK4 genes, while lipomas are characterized by simple structural chromosome aberrations often involving HMGA2 at 12q15.

chromosome aberrations


Input: The mood-stabilizing drug valproate, but not lithium, rescues the manic-like behaviour of Shank3 transgenic mice raising the possibility that this hyperkinetic disorder has a unique pharmacogenetic profile.

manic

manic


Input: Odds ratios of albuminuria at entry and/or during follow-up for different APOE groups were not significantly different.

APOE

albuminuria


Input: There was significant difference in the percentage of SSEA1 cells (SSEA1 +/Ki67 + cells) between inherited and sporadic HBs although the tumor proliferative index (Ki67 + cells/all cells) did not reach statistical significance between the two groups.

sporadic


Input: Given the considerable evidence that anxiety and depression are closely linked with abnormalities in sleep, the data presented here provide further evidence that neurotensin and Ntsr1 may be a component of a pathway involved in both sleep and mood disorders.

neurotensin

mood disorders

neurotensin

mood disorders


Input: Crk-Like (CRKL) is an adapter protein that has crucial roles in multiple biological processes, including cell proliferation, adhesion, and migration.

CRKL

adhesion


Input: Similarly, OCT2 (& #8764; 2-fold) and OCT3 (& #8764; 3-fold) showed increased protein expression in the kidneys of obese patients compared with those of nonobese individuals.

obese

obese


Input: To understand the role of cyclin D1 expression in head and neck cancer, we overexpressed cyclin D1 in TU182 (a cell line derived from pharyngeal cancer) using a retroviral vector.

cyclin D1

pharyngeal cancer


Input: The presence of LGALS3 SNPs in thyroid carcinoma cell lines (NPA, TPC-1, WRO, ARO), thyroid tissues of 55 patients with multinodular goiter or papillary carcinoma diagnosis and lymphocytes of peripheral blood of 45 healthy individuals was evaluated by sequencing and SSCP.

ARO

multinodular goiter


Input: The DBP + DEHP dose increased the incidence of many reproductive malformations by > or = 50%, including epididymal agenesis, and reduced androgen-dependent organ weights in cumulative, dose-additive manner.

DBP

malformations


Input: Genetic analysis identified a compound heterozygous mutation in the Na-Cl cotransporter gene (NCCT), confirming the diagnosis of GS.

Na-Cl cotransporter

GS

Na-Cl cotransporter

GS


Input: NPY/Y₁ receptor-mediated vasoconstrictory and proliferative effects in pulmonary hypertension.

NPY

pulmonary hypertension


Input: The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.

H syndrome

H syndrome


Input: One patient with follicular small cleaved cell NHL that evolved to a small noncleaved cell NHL had coexisting bcl-2 and c-myc rearrangement in the aspiration specimen of the high-grade NHL, suggesting sequential bcl-2 and c-myc activation during the tumor' s progression.

aspiration


Input: This translocation induces the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription-polymerase chain reaction.

EWS

translocation


Input: ' Increased expression of seprase, a membrane-type serine protease, is associated with lymph node metastasis in human colorectal cancer'.

seprase

lymph node metastasis


Input: This study will evaluate the frequency of CFTR mutations and SPINK-1 polymorphisms in HIV-positive patients with clinical pancreatitis or asymptomatic elevation of serum pancreatic enzymes.

CFTR

asymptomatic


Input: We evaluated the expression pattern of MMP-2 and MMP-9 in blood from patients with BD during acute mania and after euthymia, in comparison with healthy controls.

BD

BD


Input: These findings indicate that there is a basal level of mis-splicing during LMNA expression that does not change with ageing in human muscle, but at levels that do not result in increased aberrant protein.

LMNA

ageing


Input: TAZ and YAP are transcriptional coactivators that can contribute to cancer by promoting proliferation, tumorigenesis, and cancer stem cell expansion.

TAZ

tumorigenesis


Input: Our data suggest a novel mechanism that Kindlin-2 regulates breast cancer progression by inducing genome instability.

genome instability


Input: For instance, cardiotrophin-1 is a cytokine member of the interleukin-6 superfamily, produced by cardiomyocytes and non-cardiomyocytes in situations of biomechanical stress that once secreted interacts with its receptor, the heterodimer formed by gp130 and gp90 (also known as leukemia inhibitory factor receptor beta), activating different signaling pathways leading to cardiomyocyte hypertrophy, as well as myocardial fibrosis.

myocardial fibrosis


Input: Citrate synthase is a novel in vivo matrix metalloproteinase-9 substrate that regulates mitochondrial function in the postmyocardial infarction left ventricle.

Citrate synthase

infarction


Input: We have also quantified the mRNA of six genes previously identified as markers of the biopsychological stress associated with major depression: FOS, DUSP1, OGG1, STMN1, p16 (INK4a) and TERT.

major depression

major depression


Input: These findings establish that loss-of-function mutations in CACNA1F cause incomplete CSNB, making this disorder an example of a human channelopathy of the retina.

CSNB

CSNB


Input: Functional analysis revealed that increased calcium channel activity is a distinct property of both SPSMA-and CMT2C-causing mutant proteins.

SPSMA

SPSMA


Input: Leptin receptor, beta2 adrenergic receptor and glucocorticoid receptor gene polymorphisms have been associated with an augmented clustering of metabolic abnormalities in response to overfeeding.

Leptin receptor

abnormalities


Input: We previously showed that dbpA, a member of the Y box family of proteins, could accelerate the process of inflammation-induced hepatocarcinogenesis, and that dbpA is more abundantly expressed in hepatocellular carcinoma than in non-tumorous tissue.

dbpA

hepatocellular carcinoma


Input: A previous study showed that BK5. EP1 transgenic mice produced more carcinomas than wild type (WT) mice using initiation/promotion protocols, although the tumor response was dependent on the type of tumor promoter used.

tumor


Input: This deletion was linked with hepatic copper accumulation and hepatitis, and considered to be a primary mutation for hepatic disorder in the LEC rat.

LEC

hepatic disorder


Input: Analbuminemia in a Swiss family is caused by a C--& gt; T transition at nucleotide 4446 of the albumin gene.

albumin

Analbuminemia

albumin

Analbuminemia


Input: Mutational analysis of two positional candidate susceptibility genes for bipolar disorder on chromosome 12q23-q24: phenylalanine hydroxylase and human LIM-homeobox LHX5.

bipolar disorder

bipolar disorder


Input: The HLA-A * 02 and-A * 03 were observed increased frequencies in patients less than 50% hair loss, and HLA-B * 27 equally in patients of 50-99% hair loss, alopecia totalis and alopecia universalis.

HLA-A

hair loss


Input: Here, we tested if the genetic NEDD4L variation previously associated with salt sensitivity is related to population blood pressure, incidence of cardiovascular disease (CVD) and mortality.

blood pressure


Input: TGFβ-1 induced SMAD3 translocation to the nuclei in MDA-MB-231, MDA-MB-231 (hm) as well as in SMAD4 deficient MDA-MB-468, indicating that an alternate non-canonical pathway could be responsible for TGFβ-1 induced cytokine production in MDA-MB-468 cells.

translocation


Input: In a consanguineous family with JS associated with optic nerve coloboma, kidney hypoplasia, and polydactyly, combined exome sequencing and mapping identified a homozygous splice-site mutation in PDE6D, encoding a prenyl-binding protein.

polydactyly

polydactyly


Input: Both mutations lie in the cysteine-knot region of the protein LEFTY A, and the phenotype of affected individuals is very similar to that typically seen in Lefty1-/-mice with LR-axis malformations.

malformations


Input: Expression of elastin, decorin, lumican and the extracellular matrix remodeling factor TIMP3 were reduced in facioscapulohumeral muscular dystrophy myoblasts.

elastin

facioscapulohumeral muscular dystrophy

elastin

facioscapulohumeral muscular dystrophy


Input: Kaplan-Meier survival analysis and Cox proportional hazard regression were used to analyze the association between MAP3K1 rs889312 genotypes and survival outcomes of gastric cancer.

regression


Input: B-cell attracting chemokines may therefore have relevance in the pathogenesis of chronic rhinosinusitis with nasal polyps (CRSwNPs) Methods: Polyp and inferior turbinate tissues were obtained from CRSwNPs, CRS without NPs (CRSsNPs), and control patients; ELISA and reverse-transcription polymerase chain reaction were used to detect levels of protein and mRNA for selected B-cell chemokines (B-cell attracting chemokine 1 [CXCL13/BCA-1/BLC]), thymus expressed chemokine (CCL25/TECK), mucosae-associated epithelial chemokine (CCL28/MEC), stromal cell-derived factor-1alpha (CXCL12/SDF-1alpha), and selected chemokine receptor genes (CXCR4, CXCR5, and CXCR7).

TECK

chronic rhinosinusitis


Input: Seventy-two hours of dehydration induced a decrease in body weight and CRH mRNA levels in PVN of controls as well as of FR50 rats, but also led to a rise in plasma corticosterone and free corticosterone without changing CBG binding capacity.

CRH

dehydration


Input: In this study, we determined gene expression of both insulin-like growth factor (IGF)-I and bone Gla protein (BGP; osteocalcin) in calvaria in comparison with their serum levels in methimazole (MMI)-induced congenital hypothyroid (CHT) rats during the first 4 weeks of life.

bone Gla protein

hypothyroid


Input: kappa-opioid receptor antagonists such as nor-Binaltorphimine (nor-BNI) have been shown to produce antidepressant-like behavioral effects in animal models of depression.

kappa-opioid receptor

depression

kappa-opioid receptor

depression


Input: XRCC1, XRCC3, and XPD polymorphisms as modifiers of the effect of smoking and alcohol on colorectal adenoma risk.

smoking


Input: S100beta (glial) immunoreactivity was similar in the post-ischemic hippocampus of the GFAP (+/+) and GFAP (-/-), indicating that reactive astrocytosis did not require GFAP.

astrocytosis


Input: Interestingly, some of the histone demethylase enzymes, which have the Jumonji domain-containing family, require oxygen to function and are induced by hypoxia in an HIF-1-dependent manner.

Jumonji

hypoxia


Input: HLA-A,-B,-C,-DR, and-DQ gene typing and HLA-DRB1,-DQB1, and-DPB1 allele typing were performed by the polymerase chain reaction sequence-specific primers method and the restriction fragment length polymorphism method, respectively, in 40 patients with autoimmune pancreatitis, 43 patients with chronic calcifying pancreatitis, and 201 healthy subjects.

HLA-A

autoimmune pancreatitis


Input: There was no significant difference in the expression of CDK4, P27, and E2F-1 among histological grade of the chondrosarcoma (P > 0. 05).

chondrosarcoma


Input: A total of 170 Helicobacter pylori-positive patients with chronic gastritis were randomized to receive one of the following Helicobacter pylori eradication regimens; OAC (omeprazole 20 mg bd, amoxycillin 750 mg bd and clarithromycin 400 mg bd for 1 week) and RAC (rabeprazole 20 mg bd, amoxycillin 750 mg bd and clarithromycin 400 mg bd for 1 week).

RAC

chronic gastritis


Input: Frequency of chromosomal aberrations involving MALT1 in mucosa-associated lymphoid tissue lymphoma in patients with Sjögren' s syndrome.

chromosomal aberrations


Input: The demonstration of an allelic association between IL4 and immune response to mycobacterial antigen may provide a genetic explanation for the inverse association recently demonstrated between delayed hypersensitivity T helper 1 responses to mycobacterial antigen and atopic disorder in Japanese children.

delayed hypersensitivity


Input: Thirty-two Sprague-Dawley rats were randomly divided into sham, shunt, sham + PPG (D, L-propargylglycine, an inhibitor of cystathionine-gamma-lyase), and shunt + PPG groups.

PPG

shunt


Input: Our data reveal a significant down-regulation in the expression of ECM components such as collagens I, II, III, and IV, and the SLRPs, decorin, biglycan, lumican, and fibromodulin in stromal cells when grown in the presence of two metastatic prostate cancer cell lines PC3 and DU145.

ECM

metastatic prostate cancer


Input: We have performed a molecular and mutation analysis of a total 19 unrelated MPS II patients of different ethnic origin and identified 19 different IDS mutations, 9 of which were novel and unique.

IDS

MPS II

IDS

MPS II


Input: Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia


Input: The CC genotype of rs4633 (C/T) and the GG genotype of rs4680 (G/A) showed a significantly higher degree of PAI and the association remained positive after adjustment for age, hypertension, diabetes, smoking and drinking (p = 0. 035 and p = 0. 031, respectively).

PAI

smoking


Input: We show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded.

Dravet syndrome

Dravet syndrome


Input: The mechanism of bone marrow failure (BMF) in paroxysmal nocturnal hemoglobinuria (PNH) is not yet known.

BMF

paroxysmal nocturnal hemoglobinuria


Input: To determine whether these cells play a role in our E (+)-transgenic model, we first confirmed the existence of CD4 (+) CD25 (+) T cells regulating thyroiditis in E (+) B10. Ab (0) (A (-) E (+)) and B10 (A (+) E (-)) mice by i. v.

thyroiditis


Input: Eleven male Chinese WAS patients were enrolled, presenting as classic WAS phenotype, correlative to the expression level of WASP and the severity of infections.

WASP

infections


Input: A cohort of 31 cystic fibrosis patients showing pancreatic sufficiency and bearing an unidentified mutation on at least one chromosome was analyzed through denaturing gradient gel electrophoresis of the whole coding region of the cystic fibrosis transmembrane conductance regulator gene, including intron-exon boundaries.

cystic fibrosis transmembrane conductance regulator

cystic fibrosis

cystic fibrosis transmembrane conductance regulator

cystic fibrosis


Input: Fluorescence in situ hybridization with PAC1173K1 identified the breakpoint on 11p15, indicating that the NUP98 gene was involved in the translocation.

NUP98 gene

translocation


Input: Here we report novel findings concerning developmental abnormalities resulting from prenatal exposure to DBP, which leads to significant anorectal malformations (ARMs) in male rat offspring.

DBP

abnormalities


Input: Genotyping of IL-13 gene polymorphisms was performed using polymerase chain reaction-based restriction fragment length polymorphism method. A statistically significant association of the A-1512C polymorphism in IL13 gene was observed with atopy (p & lt; 0. 001; χ2 = 19. 0).

IL13 gene

atopy


Input: Inhibin B plasma concentrations in infertile patients with DAZ gene deletions treated with FSH.

DAZ

infertile


Input: Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal.

SLI

neurodevelopmental disorder


Input: Recently, two chromosomal aberrations involving the MALT1 gene, i. e., t (11; 18) (q21; q21) and t (14; 18) (q32; q21) have been reported as genetic events specific for MALT lymphoma.

MALT1 gene

chromosomal aberrations


Input: In the present study, the effect of epigenetic modification on the RhoE expression in gastric cancer cells was investigated.

RhoE

gastric cancer


Input: RESULTS: HER2 mutation was present in one male, non-smoking patient with low differentiated adenocarcinoma (0. 67% of all patients and 1. 5% of patients with adenocarcinoma).

smoking


Input: Moreover, athymic mice that lacked GPC1 exhibited decreased tumor angiogenesis and metastasis following intrapancreatic implantation with either PANC-1 or T3M4 human pancreatic cancer cells and fewer pulmonary metastases following intravenous injection of murine B16-F10 melanoma cells.

tumor angiogenesis


Input: HLA-DP and γ-interferon receptor-2 gene variants and their association with viral hepatitis activity in chronic hepatitis B infection.

HLA-DP

viral hepatitis


Input: Postoperatively, skin pigmentation gradually developed with a marked elevation of plasma ACTH levels, and CT scanning uncovered a thymic mass.

ACTH

skin pigmentation


Input: Multivariable COX regression models were developed to determine the joint association of NKX3. 1 genotypes with administration of vitamin E, selenium, or the combination, compared with placebo.

NKX3. 1

regression


Input: These results suggest that overexpression of B7-H1 in HCC may be induced by inflammatory microenvironment involving macrophages and imply that anti-inflammation therapy might be preventive for immune escape and assistant for immunotherapy of HCC.

inflammation


Input: These observations suggest focal segmental glomerulosclerosis as a phenotypic manifestation in patients with ZMPSTE24 deficiency.

focal segmental glomerulosclerosis

focal segmental glomerulosclerosis


Input: Hypertrophic cardiomyopathy due to PRKAG2 mutations may have a degree of cardiac hypertrophy exceeding that expected from observed amounts of glycogen deposition.

cardiac hypertrophy


Input: The lack of PXR results in a severe repression of the Na/Pi cotransporter NaPi-IIb/Npt2b (SLC34A2), thus leading Pxr-/-males and females to develop a type of hypophosphatemia.

PXR

hypophosphatemia

PXR

hypophosphatemia


Input: To elucidate a possible role of BRCA2 and RB1 in sporadic breast tumorigenesis, allelic imbalance (AI) at 13q loci was examined in 78 primary sporadic breast tumors.

sporadic


Input: These results suggest that XRCC1 399 Gln/Gln genotype may contribute to the risk of ESCC and modify risk associated with smoking.

smoking


Input: Avarol induces apoptosis in pancreatic ductal adenocarcinoma cells by activating PERK-eIF2α-CHOP signaling.

PERK

pancreatic ductal adenocarcinoma


Input: Catalyzing a critical step in glutathione biosynthesis, GCLC may play a broad role in idiosyncratic drug reactions.

GCLC

drug reactions


Input: The pro-angiogenic factor cysteine-rich protein 61 (CYR61/CCN1) mediates different signals in tumorigenesis, angiogenesis and is involved in the pathogenesis of endometriosis.

tumorigenesis


Input: This work identifies GOT1 as a novel fusion partner of ETV6 in myelodysplastic syndrome.

myelodysplastic syndrome


Input: Indirect calorimetry revealed decreases in energy expenditure (p < 0. 001) and increases in RER values (p < 0. 001), which were further exacerbated by high fat diet (45% kcals from fat) consumption indicating an impaired ability to utilize fatty acids in offspring of obese dams as analyzed by PRCF.

RER

obese


Input: We estimated the frequency of constitutional mutations and polymorphisms in selected regions of MRE11, RAD50, and NBN in the group of 220 children diagnosed with childhood leukemias and controls (n = 504/2200).

leukemias


Input: Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22. 13-p22. 2.

keratosis follicularis spinulosa decalvans


Input: The 2-SNP CHGB promoter haplotypes had a profound (p = 3. 16E-20) effect on blood pressure (BP) in the European ancestry population, with a rank order of CT < AA < < CA < AT on both systolic blood pressure (SBP) and diastolic blood pressure (DBP), accounting for approximately 2. 3% to approximately 3. 4% of SBP/DBP variance; the haplotype effects on BP in vivo paralleled those on promoter activity in cella.

DBP

systolic blood pressure


Input: To date, 13 different cathepsin C mutations have been reported in PLS patients, all of which are homozygous for a given mutation, reflecting consanguinity.

cathepsin C

PLS

cathepsin C

PLS


Input: Taken together, these results suggest that PREPL is a novel oligopeptidase, with unique structural and functional characteristics, involved in hypotonia-cystinuria syndrome.

PREPL

hypotonia-cystinuria syndrome

PREPL

hypotonia-cystinuria syndrome


Input: GluR1 and GluR2 mRNAs were less abundant per neuron in CA4 and CA3 in schizophrenia than in controls.

schizophrenia


Input: A sporadic RP carried a sequence variant of PDE6B gene, a G to C transition, at the 15th base adjacent to the 3'-end of exon l8.

PDE6B gene

sporadic


Input: For the detection of possible association between smoking, NAT2 gene polymorphisms, and the risk of breast cancer, we designed a case-controlled study with 198 patients enrolled, 98 breast cancer patients and 100 healthy controls.

NAT2 gene

smoking


Input: Among all the autosomal recessive rare bleeding disorders, which include afibrinogenaemia, factor (F) II, FV, FV + VIII, FVII, FX, FXI, FXIII, the combined deficiency of coagulation FV and FVIII (F5F8D or FV + FVIII) is exceptional because it is due to mutations in genes encoding proteins involved in the FV and FVIII intracellular transport (LMAN1 and MCFD2) rather than DNA defects in the genes that encode the corresponding coagulation factors.

afibrinogenaemia


Input: p63 and p73 expression in extrahepatic bile duct carcinoma and their clinical significance.

extrahepatic bile duct carcinoma


Input: In contrast, the association of WC and BMI with GGT levels varied by rs659366 genotype (Pinteraction = 0. 03 and 0. 007, respectively; adjusted for age, gender, high alcohol intake, diabetes, hypertension and serum lipid concentrations).

GGT

alcohol intake


Input: We imaged VEGFR in an orthotopic mammary tumor model during the course of treatment with sunitinib using a recently developed SPECT tracer, a (99m) Tc-labeled single-chain VEGF (scVEGF), that binds to and is internalized by VEGFR.

VEGF

mammary tumor


Input: Certain immunophenotypes (low CD11b, high HLA-Dr, CD34, CD13 and CD45), clonal granulocytes, multiple chromosomal abnormalities, chromosomal instability, short telomeres and high telomerase activity were also reported as PPF.

abnormalities, chromosomal


Input: These data provide no evidence for an association between GBV-C and/or TTV infections and SSc and/or arthritis (RA and OA).

TTV

arthritis


Input: Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

Usher syndrome type III

Usher syndrome type III


Input: Variants of the CD40 gene but not of the CD40L gene are associated with coronary artery calcification in the Diabetes Heart Study (DHS).

coronary artery calcification


Input: Physical and behavioral symptoms displayed by Ndufs4 (fky/fky) mice include temporary fur loss, growth retardation, unsteady gait, and abnormal body posture when suspended by the tail.

growth retardation


Input: We report on 30 adolescent and adult females with classical or atypical RTT of whom 24 have a MECP2 mutation.

RTT

RTT


Input: In the present study, nine unrelated Crouzon syndrome patients were screened for mutations in the two exons of FGFR2 by polymerase chain reaction and direct sequencing.

Crouzon syndrome

Crouzon syndrome


Input: Modulation of these microRNAs resensitizes PTX-resistant cancer cells by targeting BCL10, caspase-7, and ZEB1.

resistant cancer


Input: Overexpression of these genes was significantly associated to a poor response to treatment (P =. 0001 and P =. 0049, respectively), tumor progression, and worse overall survival (P =. 0052 and P =. 0085, respectively), suggesting that MAPK7 and MAP2K4 could play an important role in osteosarcoma tumorigenesis.

tumor progression


Input: This study aims to explore the associations of polymorphisms in inflammation-related genes (IL10, IL10RA, IL6R, TNFRSF1A, TNFRSF1B, LTA and IL4) and their interactions with the risk of colorectal cancer among Chinese population.

inflammation


Input: Depletion of CD8, but not CD4 T cells reduced anti-tumor immunity, indicating CTL as the effector cells.

tumor immunity


Input: Altered Ca2 + homeostasis in skeletal muscle is a key molecular event triggering malignant hyperthermia (MH) in malignant hyperthermia-susceptible (MHS) individuals.

malignant hyperthermia


Input: In this study, we report the analysis of the mutational status of the EXT2 gene in tumor samples derived from a patient affected by hereditary MO, documenting the somatic loss of the germline mutation in a giant chondrosarcoma and in a rapidly growing osteochondroma.

EXT2 gene

giant


Input: X-linked Emery-Dreifuss muscular dystrophy is caused by loss of emerin, a LEM-domain protein of the nuclear inner membrane.

emerin

X-linked Emery-Dreifuss muscular dystrophy

emerin

X-linked Emery-Dreifuss muscular dystrophy


Input: These results add support for a role of SAT1 in conferring a risk for suicide completion, in particular in the context of depressive disorders.

depressive disorders

depressive disorders


Input: This study has implications for genetic counseling of carriers of this PRKAR1A mutation and patients with CNC and PPNAD and for the study of PRKAR1A-related tumorigenesis.

tumorigenesis


Input: In other systems, such binding is mediated by the interaction of adhesion molecules such as intracellular adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-(VCAM-1) and E-selectin (on ECs), and leukocyte function-associated antigen-1 (LFA-1) and very late activated antigen-4 (VLA-4) (on Leukocytes).

adhesion


Input: We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not.

hypertrophic cardiomyopathy


Input: The experimental models included: the murine systemic Listeria monocytogenes infection model, the Pseudomonas aeruginosa bacteremia model in neutropenic rats, and the cecal ligation and puncture (CLP)-induced peritonitis model in rats.

CLP

peritonitis


Input: These characteristics identify SOX2 as a lineage-survival oncogene in lung and esophageal SCC.

esophageal SCC

esophageal SCC


Input: Further, these findings confirm that the OI type-III phenotype, previously thought to be inherited in an autosomal recessive manner, can result from new dominant mutations in the COL1A1 gene of type-I collagen.

OI type-III

OI type-III


Input: However, the roles of other genes, such as CSF3 (colony stimulating factor 3 receptor), CD40, TNFSF14 (tumor necrosis factor receptor superfamily, member 14), IFNB1 (interferon-β1), TIRAP (toll-interleukin 1 receptor domain containing adaptor protein), IL2RA (interleukin 2 receptor α), ETS1 (v-ets avian erythroblastosis virus E26 oncogene homolog 1), GADD45B (growth arrest and DNA-damage-inducible 45 β), BIRC3 (baculoviral IAP repeat containing 3), VAV1 (vav 1 guanine nucleotide exchange factor), COL5A1 (collagen, type V, α1), and C3 (complement component 3), have not been investigated thoroughly in the process of periodontitis.

TIRAP

periodontitis


Input: To further delineate the impacts of FcγRIIIA and TLR9 in SMA pathogenesis, the associations between FcγRIIIA-176F/V and TLR9-1237T/C variants, SMA (hemoglobin [Hb] < 6. 0 g/dl), and circulating IFN-γ levels were investigated in children (n = 301) from western Kenya with acute malaria.

hemoglobin


Input: Thus the clinical features of HHM are very similar to those of primary hyperparathyroidism (1 degree HPT), a prototype of humoral hypercalcemia caused by PTH.

HHM

primary hyperparathyroidism


Input: Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia.

pneumonitis

pneumonitis


Input: Patients with proliferative lupus nephritis had significantly lower urinary IL-22 mRNA levels than those with nonproliferative nephritis (2. 2 ± 5. 4 vs 8. 6 ± 20. 0 copies, p = 0. 019), and urinary IL-22 mRNA level inversely correlated with the histological activity index (r =-0. 427, p < 0. 0001).

lupus nephritis


Input: However another relevant issue is that, apart from genetic influence in liver transporters influencing drug levels, the complexity of mechanisms involved in the muscular side effects of statins has been addressed by the evidence of other influencing pathways such as the variant within the COQ2 gene involved in Coenzyme Q (10) mild-asymptomatic deficiency and skeletal muscle drug transporters expression.

COQ2 gene

asymptomatic


Input: Using PCR amplification followed by immobilization onto magnetic beads and direct sequencing, we sequenced exons 5-9 of the p53 gene from 9 melanomas, 8 nasopharyngeal carcinomas, 16 sporadic breast carcinomas and 11 patients from familial breast cancer families.

p53 gene

sporadic


Input: We analyzed the transcriptional profile of cell lines treated with a mitogen-activated protein (MAP)/extracellular signal-regulated (ERK) kinase (MEK) inhibitor to identify gene targets of activated GNAQ and to evaluate the biologic importance of these genes in uveal melanoma.

ERK

uveal melanoma


Input: Furthermore, viral-mediated HDAC5 overexpression in the hippocampus blocked imipramine' s ability to reverse depression-like behavior.

depression

depression


Input: In the vascular system, Cav3. 2 activation leads to dilation of blood vessels, whereas Cav3. 1 channels are mainly suggested to affect constriction.

Cav3. 2

constriction


Input: Hyperalgesia during opioid abstinence: mediation by glutamate and substance p.

substance p

Hyperalgesia

substance p

Hyperalgesia


Input: Sporadic fundic gland polyps: common gastric polyps arising through activating mutations in the beta-catenin gene.

beta-catenin

gastric polyps


Input: Missense mutation in a von Willebrand factor type A domain of the alpha 3 (VI) collagen gene (COL6A3) in a family with Bethlem myopathy.

Bethlem myopathy

Bethlem myopathy


Input: CD74, MIF and TLR4 expression in the paraffin-embedded sections of gastric cancer from 120 patients were detected by immunohistochemical staining.

MIF

gastric cancer


Input: Elevated AhR and CYP1B1 but not CYP1A1 before tumor formation in a rat model of mammary tumorigenesis suggested differential CYP1B1 regulation by a constitutively active AhR.

mammary tumorigenesis


Input: Globoid cell leukodystrophy (GLD) or Krabbe disease is an autosomal recessively inherited neurological disease caused by mutations in the gene coding for the lysosomal enzyme galacto-cerebrosidase (GALC).

GALC

neurological disease


Input: The EWS-WT1 translocation product induces PDGFA in desmoplastic small round-cell tumour.

EWS

translocation


Input: Serum SPARC concentration is significantly correlated with obesity indices and might be influenced by insulin resistance.

SPARC

insulin resistance


Input: p53, a tumor suppressor gene, is frequently mutated in sporadic human cancer, and inherited mutations in p53 predispose to the early onset of cancer.

sporadic


Input: NAT2 slow acetylator genotype is associated with increased risk of lung cancer among non-smoking Chinese women in Singapore.

smoking


Input: This is in contrast to the higher frequencies and worldwide distribution of parkin-and PINK1-related parkinsonism in ARP and sporadic parkinsonism.

sporadic


Input: We found stronger associations between several smoking variables and alcohol intake and lung cancer risk among GPX1 (TT) carriers than among GPX1 (CC) and GPX1 (CT) carriers.

alcohol intake


Input: These patients have notoriously dissimilar metabolic abnormalities that correlate with differential levels of circulating leptin and soluble leptin receptor fraction.

leptin receptor

abnormalities


Input: Our group has previously shown that RhoE as a direct target for HIF-1α and mediates hypoxia-induced epithelial to mesenchymal transition in gastric cancer cells.

RhoE

gastric cancer


Input: Further, amplifications on chromosomes 20 and 22 seen in one patient sample suggest a novel translocation type between EWSR1 and an unidentified fusion partner at 20q.

translocation


Input: These results confirm that mutations of PINK1 cause abnormal mitochondrial morphology, bioenergetic function and oxidative metabolism in human tissues but suggest that the biochemical consequences may vary between mutations.

abnormal mitochondrial morphology


Input: We integrated the RNA-Seq results with DNA-binding sites of BRD4 generated by chromatin immunoprecipitations, correlated these with gene expressions from human prostate cancers and identified 21 top BRD4 candidate genes among which the oxidative stress pathway genes KEAP1, SESN3 and HDAC6 are represented.

prostate cancers

prostate cancers


Input: Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome.

matrix Gla protein

Keutel syndrome

matrix Gla protein

Keutel syndrome


Input: To overcome these inconsistencies, we studied the mRNA expression of ApoE and LRP in the postmortem brain of persons who died at different stages of dementia and AD-associated neuropathology relative to controls by quantitative polymerase chain reaction (qPCR) and Western blotting analyses.

LRP

dementia


Input: Furthermore, CDKL2 enhanced primary tumor formation and metastasis in a breast cancer xenograft model.

metastasis

metastasis


Input: We genotyped 3 tagging SNPs of CD24-P-534 in the promoter region, P170 in the coding region of exon 2 and P1527 in the 3' untranslated region-using polymerase chain reaction-restriction fragment length polymorphism in specimens from 679 histologically-confirmed GC cases, 111 gastric atrophy (GA) cases and 976 tumor-free controls.

gastric atrophy


Input: Furthermore, expression of IDO at the margin of ulcerations and in the reparative ulcer-associated cell lineage suggests involvement of IDO in repair processes.

IDO

ulcer


Input: Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.

lamin A/C gene

myocardial fibrosis


Input: The therapeutic application of TLR9 has been explored extensively in recent years, and many studies are being conducted to assess the safety and efficacy of TLR9 agonists in various diseases, including atopic and infectious diseases, and cancer.

atopic


Input: and p53 in UC and sporadic colon cancer.

sporadic


Input: Low expression of LOC285194 was associated with larger tumor size (p = 0. 002), advanced TNM stage (p = 0. 018), more lymph node metastases (p = 0. 013) and distant metastases (p = 0. 015).

lymph node metastases


Input: These data suggest that the NRF2 pathway is differentially responsive to CDDO-Me activation in peripheral blood cells from patients with septic shock and results in increased O2 production.

septic shock


Input: Differentiated embryonic chondrocyte gene (DEC) 1 (BHLHE40/Stra13/Sharp2) and DEC2 (BHLHE41/Sharp1) are basic helix-loop-helix (bHLH) transcription factors that are associated with the regulation of apoptosis, cell proliferation and circadian rhythms, as well as malignancy in various cancers.

circadian rhythms


Input: On the basis of these results, we conclude that GADD45b may be increased in psychosis compensatory to its inability to access gene promoter regions.

psychosis

psychosis


Input: Erlotinib induced mutated in multiple advanced cancers 1/phosphatase and tensin homologue (MMAC1/PTEN) and suppressed phosphorylated Akt (Ser (473)) but not in the erlotinib-resistant cells.

tensin

cancers


Input: Our findings show the difficulty in distinguishing CMTX patients from CMT1 and CMT2 patients, and they emphasize the need for Cx32 mutation screening in families previously diagnosed with CMT2.

CMTX

CMTX


Input: We performed in situ hybridization to assess hippocampal expression of the transcripts encoding NMDA receptor subunits NR1, 2A, 2B, 2C and 2D, and the transcripts for the NMDA receptor associated PSD proteins PSD95, PSD93, NF-L, and SAP102 in subjects with schizophrenia, bipolar affective disorder I, and a comparison group.

NF-L

bipolar affective disorder

NF-L

bipolar affective disorder


Input: We evaluated transcript levels of myocardin, GATA4 and Nkx2. 5 in peripheral blood mononuclear cells (PBMCs) in patients with stable coronary artery disease (CAD) and we examined the relationship between these levels and the severity of the disease, estimated by the number of stenotic vessels involved.

Nkx2. 5

coronary artery disease


Input: XTC. UC1 showed autophagic responses to starvation and rapamycin treatment, whereas they displayed ineffective activation of mitophagy, which is triggered by the coordinated action of PINK1 and Parkin in response to CCCP.

starvation


Input: Overall our results indicates that the HTR2A, 5-HTT, DRD3 and GABA (A) gamma2 genes are not likely to be a major genetic risk factor for heroin abuse in this population, with the exception of possible association between nasal inhalation and DRD2 promoter-141DeltaC polymorphism.

inhalation


Input: Ocular wounding prevents pre-retinal neovascularization and upregulates PEDF expression in the inner retina.

PEDF

retinal neovascularization


Input: By detailed phenotypic analysis of our patients, and by critical literature review, we found that homozygous TRAPPC9 loss-of-function mutations cause a distinctive phenotype, characterized by peculiar facial appearance, obesity, hypotonia (all signs resembling a Prader-Willi-like phenotype), moderate-to-severe ID, and consistent brain abnormalities.

facial appearance


Input: Major depression in females with the FMR1 premutation may not be characterized as an episodically chronic recurrent disorder as it is in community samples and may have a genetic basis given the relationship with CGG repeat length and lack of association with all child and most demographic factors.

Major depression

Major depression


Input: These results suggest that NOTCH1 mutations cause an early developmental defect in the aortic valve and a later de-repression of calcium deposition that causes progressive aortic valve disease.

aortic valve disease

aortic valve disease


Input: Similarly, neurons with a NEDD4-1 haplotype are more resistant to apoptosis, largely due to expression of higher levels of IGF-1Rβ. Together, our work identifies a novel molecular mechanism for ROS-upregulated NEDD4-1 and the subsequently reduced IGF-1Rβ signaling in neurodegeneration.

neurodegeneration


Input: ApoA-I also stimulates secretion of apolipoprotein E (apoE) from macrophage foam cells, although the mechanism of this process is not understood.

apolipoprotein E

foam cells


Input: Thus, susceptibility to virus infection can be determined by the cell' s ability to respond to autocrine IFN through the Stat-mediated pathway of gene induction.

cell' s

virus infection


Input: We report here that the mutant-allele-specific amplification (MASA) method may be useful for detection of the K-ras mutations in cells obtained from the sputum of patients with lung cancer.

MASA

lung cancer


Input: Some of immediate early genes (IEGs) as egr1 (zif268) or arc (arg3. 1) are believed to play an important role in the process of epileptogenesis.

arc


Input: Enzyme-linked immunosorbent assay further showed that GSE could reduce the VEGF secretion from various cancer cell lines including MDA-MB231, HepG2, HL-60 (acute promyelocytic leukaemia) and eleven primary cultured leukaemia cells obtained from acute myelogenous leukaemia patients.

GSE

leukaemia


Input: Expression of PSCA, PIWIL1, and TBX2 in endometrial adenocarcinoma.

endometrial adenocarcinoma


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

factor VIII

fibrinogen


Input: We conclude that loss of STX3 function causes variant MVID.

MVID

MVID


Input: Transcripts for ClC-2 thru ClC-7 were detected in a human glioma cell line by PCR, whereas only ClC-2, ClC-3, and ClC-5 protein could be identified by Western blot.

glioma

glioma


Input: Monocyte chemoattractant protein (MCP)-1 is a chemokine that plays an important role in the recruitment of mononuclear cells into sites of inflammation.

MCP

inflammation


Input: It is concluded that a beta-endorphin-containing pathway projecting from the arcuate nucleus to the ipsilateral dorsal vagal complex is involved in depressor cardiovascular regulation and in the facilitation of baroreflex bradycardia.

beta-endorphin

bradycardia

beta-endorphin

bradycardia


Input: To further understand the biological effects of the alteration of THTR2 expression, we conducted a DNA microarray study of gene expression in THTR2-transfected breast cancer cells and found that, in addition to increased expression of THTR2 attributable to the transgene, three other genes were up-regulated > 2. 5-fold in the transfected cells: cytochrome P450 isoform CYP4B1, 15-hydroxyprostaglandin dehydrogenase (15-PGDH), and transcription factor CRIP1.

breast cancer


Input: [Expression of Smad1 and Smad5 in the testis of infertile rats with kidney-yang deficiency].

infertile


Input: To characterize the activation status of the immune system in schizophrenia, we examined the pattern of gene expression in peripheral blood cells for three Th1 cytokines (interferon-gamma (IFN-gamma), tumor necrosis factor-alpha (TNF-alpha), interleukin-2 (IL-2)), and one Th2 cytokine (interleukin-10 (IL-10)).

schizophrenia


Input: However, hepatic GSH, which is involved in the detoxification of chemical compounds, significantly decreased after i. p. morphine injection at 02: 00 but not at 14: 00 h. Overall, the results suggest that the analgesic effect of morphine is greater after dosing during the resting than during the activity phase of mice that have been induced with bradykinin-mediated pain.

bradykinin

pain

bradykinin

pain


Input: The LRP mRNA level was significantly greater in normal bladder tissue than in transitional cell carcinoma bladder tissue (P < 0. 01) and in superficial cancer than in invasive cancer (P = 0. 013).

LRP

invasive cancer


Input: FSS and SHS mutations affect different myosin residues, demonstrating that MYH3 genotype is predictive of phenotype.

FSS

FSS


Input: Associations between hOGG1 Ser326Cys polymorphism and increased body mass index and fasting glucose level in the Japanese general population.

body mass index


Input: In mice with chemical-induced CAC, oral administration of plant-type sphingolipids called sphingadienes increased colonic SPL levels and reduced S1P levels, STAT3 signaling, cytokine levels, and tumorigenesis, indicating that SPL prevents transformation and carcinogenesis.

SPL

carcinogenesis


Input: Our observations suggest that PIK3CA and AKT1 are CS susceptibility genes.

CS

CS


Input: Qualitative methylation analysis of 24 candidate genes in cell lines revealed five methylated genes (BMP7, BMPER, CDH1, DUSP4 and LRP12), which were further subjected to quantitative methylation analysis in clinical samples from 59 lymphoma patients (BL, FL, DLBCL ABC and GCB; and primary mediastinal B-cell lymphoma, PMBL).

lymphoma


Input: To further characterize the effects of XRCC1 gene polymorphisms and their possible interactions with environmental factors on individual levels of DNA damage, we investigated the XRCC1 genotypes of 222 healthy Japanese workers and analyzed data with respect to smoking, drinking habits, age, and health practice index (HPI).

smoking


Input: As proteinuria is considered result of glomerular filtration barrier injury we investigated whether TTR deposition affects either glomerular basement membrane (GBM) or podocytes.

TTR

proteinuria


Input: The present study thus suggests that the CYP2C19 polymorphism affects personality traits of Japanese females.

personality traits


Input: UCP1 and UCP2 showed no association with insulin sensitivity.

insulin sensitivity


Input: Interestingly, however, owing to a sporadic ectopic Cre recombinase expression in the skin and lung of these mice, Fgfr3 mutation caused papilloma and promoted lung tumorigenesis in cooperation with K-Ras and β-catenin activation, respectively.

tumorigenesis


Input: Previous analyses of sarcomas have indicated the presence of at least two separate amplicons within this region, one located in 1q21 and one located near the apolipoprotein A-II (APOA2) gene in 1q23.

sarcomas


Input: For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.

alcohol dependency

alcohol dependency


Input: Bi-weekly self-ratings of the Center for Epidemiologic Studies Depression Scale from 12th to 13th gestational week onwards and term placental mRNAs of 11beta-hydroxysteroid dehydrogenase type 2 (HSD2B11), type 1 (HSD1B11), glucocorticoid (NR3C1), mineralocorticoid receptors (NR3C2) and serotonin transporter (SLC6A4) were obtained from 54 healthy mothers aged 32. 2 ± 5. 3 years with singleton pregnancies and without pregnancy complications.

pregnancy complications


Input: Thus, infertility in Pax8 (-/-) mice seems to be due to a defect in development of the Müllerian duct rather than to hormonal imbalance, pointing to a direct morphogenic role for Pax8 in uterine development.

infertility


Input: For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.

alcohol dependency

alcohol dependency


Input: We evaluated BRCA1, BRCA2, and MLH1 protein expression in 115 sporadic primary ovarian carcinomas, of which 31 had paired recurrent neoplasms collected after chemotherapy.

sporadic


Input: Six different missense germline mutations were identified at cysteine residues 618, 630, and 634 of the cysteine-rich extracellular RET domain encoded by exons 10 and 11 in all patients with FMTC and MEN 2A.

RET

FMTC

RET

FMTC


Input: They included 12 malignant fibrous histiocytomas (MFH), 3 malignant peripheral nerve sheath tumors (MPNST), 6 synovial sarcomas (SyS), 4 myxoid liposarcomas (MyLS), one angiosarcoma (AGS), one clear cell sarcoma (CCS), and 9 osteosarcomas (OS).

CCS

malignant peripheral nerve sheath tumors


Input: Using the humanized hCYP1A1_1A2 transgenic mouse (expressing the human CYP1A1 and CYP1A2 genes in the absence of mouse Cyp1a2 gene), the teratogenic effects of dioxin reverted to the wild-type phenotype.

Cyp1a2 gene

teratogenic effects


Input: Significant overexpression of GP73 at both protein and mRNA levels along with overexpression of GP73 protein is associated with aggressive behavior of HCC, but not overall patient survival.

HCC

aggressive behavior


Input: Mbd4 biallelic inactivation in mice provided conflicting results as to its role in tumorigenesis.

tumorigenesis


Input: We previously showed that a mutation in the Katnb1 gene in mice causes infertility because of OAT.

OAT

infertility


Input: In GCK patients, the median neonatal weight and age at the first evaluation were lower than those found in patients with HNF1A mutations.

weight


Input: Gene expression analysis revealed that CDK6 mRNA expression is higher than normal cerebellum in fifteen out of sixteen medulloblastoma patient samples.

medulloblastoma

medulloblastoma


Input: In turn, deletion of the caspase-3-encoding gene, Casp3, or elimination of the caspase cleavage site by site-directed mutagenesis rescued starvation-induced autophagy and pathogen clearance, respectively.

starvation


Input: These results suggest that MUC1 expression by gall bladder carcinoma may reflect histological dedifferentiation, increased proliferative activity, and invasiveness, while MUC2 expression is related to lower proliferative activity and reflects some differentiation towards goblet cells; and that MUC1 expression in gall bladder dysplasia reflects malignant transformation.

dedifferentiation


Input: IL-4 adenoviral gene therapy reduces inflammation, proinflammatory cytokines, vascularization, and bony destruction in rat adjuvant-induced arthritis.

inflammation


Input: To analyze whether hypoxia induces uveal melanoma cells to express proinflammatory cytokines and whether tumor supernatant (TSN) affects monocyte migration and differentiation.

TSN

uveal melanoma


Input: Surface expression of very late antigen-4 [VLA-4] and LFA-1 was decreased and the production of the type 2 cytokines IL-5 and IL-13 was augmented by the presence of IL-4 during stimulation of CD8 + T cells from mild atopic asthmatics.

atopic


Input: Tetramer staining showed that (1) by direct staining of single sample and flow cytometric analyses, detection of tetramer-positive CD4 (+) T cells ranged from 0. 1% to 8. 8% (median 0. 67% in tetramer 1 and 0. 5% in tetramer 2), 0. 1 to 10. 7% (0. 74% and 0. 71%), 0. 02 to 2. 2% (0. 25% and 0. 25%), 0. 02 to 0. 48% (0. 2% and 0. 2%) and most at under 0-0. 2% (0. 2% and 0. 16%) in the initial pulmonary TB (PTB) patients' blood, pleural fluid (PLF) of initial tuberculous pleuritis patients, non-TB patients' blood, healthy donors' blood and umbilical cord blood, respectively; significantly higher levels of CD4 (+) T cells were detected in samples of TB patients than in three control donor groups; (2) by direct staining of time point TB samples and flow cytometric analyses, along with TB symptom amendment at day 60, tetramer-positive CD4 (+) T cells began to decrease, until after 90-120 days, reached and kept at a relatively low even normal level about at 0. 03-0. 3%; (3) by enrichment approach, at least 10-fold increased memory tetramer-positive CD4 (+) T cells were seen; (4) by in situ staining, tetramer-positive, IFN-γ-producing and/or TNF-α-producing CD4 (+) T cells in the lymph node and lung granuloma and cavernous tissues of TB patients could be determined.

tuberculous pleuritis


Input: This study explores the signaling transduction cascade of ERK and p38 MAPK on regulating MAPK phosphatase-1 (MKP-1) and protein phosphatase 2A catalytic subunit α (PP2Acα) expression in caffeine-treated human leukemia U937 cells.

caffeine


Input: Absence of Metallothionein 3 Expression in Breast Cancer is a Rare, But Favorable Marker of Outcome that is Under Epigenetic Control.

Metallothionein 3

Breast Cancer

Metallothionein 3

Breast Cancer


Input: These results suggest that the Val----Ile change in the APP causes AD, regardless of ethnic background.

APP

AD

APP

AD


Input: C-reactive protein (CRP) is a key molecule of the acute phase of inflammation that has been localized in the two characteristic lesions of AD brain, senile plaque and neurofibrillary tangles.

CRP

neurofibrillary tangles


Input: The results indicate that low-level amplification of the HER-2/neu gene might be associated with pituitary carcinomas in which more aggressive behavior is seen.

neu gene

aggressive behavior


Input: ASCs-VEGF and ASCs showed comparable post-treatment improvements in Doppler-assessed peak systolic velocity, blood pressure ratio, and resistance index.

VEGF

blood pressure


Input: Pathway analysis of the differentially expressed proteins demonstrated strong associations with neurological disorders, muscular and skeletal disorders, and cardiovascular diseases in the cblC mutant cell lines.

cblC

neurological disorders


Input: Rearrangements of the closely related SOX3 gene on the X chromosome are also associated with 46, XX male sex reversal.

SOX3 gene

sex reversal


Input: For the detection of breast cancer, the use of RP11-445H22. 4 showed a remarkable improvement compared with the clinical serum carcinoembryonic antigen.

RP11-445H22. 4

breast cancer


Input: The purposes of this study were to examine the TNFR2 polymorphism in Japanese patients with SLE and to investigate its association with other autoimmune diseases accompanied by vasculitis, mixed connective tissue disease, Buerger' s disease, and Takayasu' s arteritis.

mixed connective tissue disease


Input: In vitro study using cultured myofibroblasts derived from the infarct tissue revealed that G-CSF increased proliferating activity of those cells accompanying activation of Akt and signal transducer and activator of transcription 3, while accelerating Fas-mediated apoptosis with increasing Bax-to-Bcl-2 ratio.

signal transducer and activator of transcription 3

infarct


Input: ALPS was identified in 9 unrelated children as manifested by moderate to massive splenomegaly and lymphadenopathy, hypergammaglobulinemia, autoimmunity, B-cell lymphocytosis, and the expansion of an unusual population of CD4-CD8-T cells that express the alpha/beta T-cell receptor (TCR).

hypergammaglobulinemia


Input: RNA from MDA-MB-435 human breast cancer cells transduced with RARbeta2 or empty retroviral vector (LXSN) was analyzed using Agilent Human 1A Oligo microarrays.

breast cancer

breast cancer


Input: The finding of 2 asymptomatic patients with FKRP mutations suggests that modulating factors may ameliorate the clinical phenotype.

FKRP

asymptomatic


Input: To examine whether the alteration in blood pressure and the defect in glycine handling were related, we measured systolic blood pressure in the XT2 (-/-) mice during dietary glycine supplementation.

systolic blood pressure


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: Genes that are connected to adhesion and inflammation: E-selectin, ICAM-1 integrins, glycoprotein IIb, IL-2, IL-4, IL-1b, and transforming growth factor-beta (TGF-beta).

inflammation


Input: We evaluated changes of the gut microbiota and epigenetic DNA methylation of TLR2 and TLR4 in three groups of subjects: type 2 diabetics under glucagon-like peptide-1 agonist therapy, obese individuals without established insulin resistance, and a lean control group.

insulin resistance


Input: Chromosomal translocation t (6; 14) (p21. 1; q32. 3) has been reported as a rare but recurrent event not only in myeloma and plasma cell leukemia but also in diffuse large B-cell non-Hodgkin lymphoma (B-NHL) (diffuse large B-cell lymphoma [DLBCL]) and splenic lymphoma with villous lymphocytes (SLVL); however, the nature of the target gene (s) has not been determined.

plasma cell leukemia


Input: The engineered CD4 (+) T cells and CD8 (+) T cells both exhibited specific cytotoxicity against CD19 (+) leukemia and lymphoma cell lines, as well as against CD19 transfectants, and produced high-levels of antigen-dependent Th1 (but not Th2) cytokines.

leukemia


Input: However, both patients with fulminant hepatitis and both patients with chronic hepatitis had TTV DNA sequences.

TTV

chronic hepatitis


Input: Hemostatic abnormalities including TAFI alterations represent a link between obesity and vascular thrombosis.

TAFI

obesity

TAFI

obesity


Input: Thus, KIT and PDGFRA mutations appear to be alternative and mutually exclusive oncogenic mechanisms in GISTs.

PDGFRA

GIST

PDGFRA

GIST


Input: Impaired Ca2 + signaling in prostate cancer contributes to several cancer hallmarks, such as enhanced proliferation and migration and a decreased ability to induce apoptosis.

prostate cancer


Input: These results suggest that most cases of Nager syndrome are caused by haploinsufficiency of SF3B4.

Nager syndrome

Nager syndrome


Input: Protein interactions of phosphatase and tensin homologue (PTEN) and its cancer-associated G20E mutant compared by using stable isotope labeling by amino acids in cell culture-based parallel affinity purification.

tensin

cancer


Input: In addition, we found that adenovirus over-expression of pre-miR-143 reduced tumorigenesis in vivo.

tumorigenesis

tumorigenesis


Input: Changes in the Ki67 expression and HMGCR activity following statin treatment were the primary and secondary endpoints, respectively.

HMGCR

secondary


Input: We aimed to clarify the effect of HSP70-2 polymorphism on the risk of peptic ulcer diseases in a Japanese population.

peptic ulcer


Input: We conclude BOFS is caused by mutations involving TFAP2A.

BOFS

BOFS


Input: A key event that regulates Id2 activity during differentiation is translocation from the nucleus to the cytoplasm.

translocation


Input: Adults with a personal history, family history, or both of cancer enrolled in the CGN through population-based cancer registries.

CGN

cancer


Input: Higher expression of PLA2G2A, PTGS2, AKR1B1, AKR1C3 and ABCC4 was seen in 22-B endometriosis cells compared to HIESC control cells.

endometriosis

endometriosis


Input: Using an imaging genetics approach, we studied differential effects of an intranasal OT application on neural processing of social stimuli in 55 healthy young men depending on their CD38 gene variant in a double-blind placebo-controlled crossover design.

CD38 gene

blind


Input: Studies that focused on mood disorder comorbid with somatic symptoms, suggested roles for the mitochondrial DNA (mtDNA) 3644 mutation and the POLG mutation.

POLG

mood disorder

POLG

mood disorder


Input: Trichoblastoma (TB) and syringocystadenoma papilliferum (SCAP) are both rare adnexal skin lesions occurring either sporadically or as secondary neoplasms in sebaceous nevi.

SCAP

skin lesions


Input: A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.

AIRE

autoimmune polyendocrine syndrome type 1

AIRE

autoimmune polyendocrine syndrome type 1


Input: It has been reported that renin suppression and aldosterone levels are lower and hypokalemia milder in patients with IHA than in patients with APA.

APA

hypokalemia


Input: The majority of human NFPA expressed KISS1R with lower rates of expression in other types of pituitary tumors.

pituitary tumors


Input: TP, OPRT, and DPD mRNA expressions were detected using a real-time reverse transcriptional-polymerase chain reaction method or by immunohistochemistry, using surgical specimens obtained from 25 patients with pancreatic cancer.

DPD

pancreatic cancer

DPD

pancreatic cancer


Input: In 127 patients with sporadic colorectal carcinomas and a minimum of 5 years follow-up after curative surgery immunohistochemical detection of MLHI and MSH2 was analyzed semiquantitatively.

sporadic


Input: Wilms' tumor 1 silencing decreases the viability and chemoresistance of glioblastoma cells in vitro: a potential role for IGF-1R de-repression.

Wilms' tumor 1

glioblastoma

Wilms' tumor 1

glioblastoma


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.

N-ras

cirrhosis


Input: During the progression of Parkinson' s disease, Rho-associated protein kinase 2 (ROCK2) is activated to promote neurodegeneration.

neurodegeneration


Input: miR-381, a novel intrinsic WEE1 inhibitor, sensitizes renal cancer cells to 5-FU by up-regulation of Cdc2 activities in 786-O.

renal cancer


Input: Even older patients with atrophy in the posterior compartment of the distal lower extremities and a relatively high serum creatine kinase level should be examined for the dysferlin gene.

dysferlin

atrophy


Input: ACTH is a safe and effective treatment for acute gout and pseudogout, especially in patients with multiple medical problems.

ACTH

pseudogout

ACTH

pseudogout


Input: We detected EZH2 and Ki-67 expression levels using immunohistochemical (IHC) studies in 20 normal cervical tissues, 50 cervical intraepithelial neoplasia (including 25 low-grade intraepithelial lesions and 25 high-grade intraepithelial lesions), and 101 cervical cancer tissues.

cervical intraepithelial neoplasia


Input: Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

PIGO

hyperphosphatasia with mental retardation

PIGO

hyperphosphatasia with mental retardation


Input: However, more studies are warranted to establish the role of CHOP variants in tumor/cancer predisposition and in overweight condition.

CHOP

overweight


Input: Migraine-associated vertigo (MAV) is a migraine syndrome also much more common in females than males.

MAV

vertigo


Input: A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.

renal hypouricemia

renal hypouricemia


Input: We also stratified the effects on estimated GFR in patients with (n = 2096) and without albuminuria (n = 613).

GFR

albuminuria


Input: The mean levels of SRC-1, SRC-2, and SRC-3 were each similar in normal myometrium compared to fibroids for SMC and also for MEC.

SMC

fibroids


Input: Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

reducing body myopathy

reducing body myopathy


Input: Single-agent oral CCT244747 antitumor activity was evaluated in a MYCN-driven transgenic mouse model of neuroblastoma by MRI and in genotoxic combinations in human tumor xenografts by growth delay.

MRI

neuroblastoma