Input: Taken together, the remarkable prostate-tissue specificity and androgen-dependent expression of PCGEM1 as well as its elevated expression in a significant percentage of tumor tissues suggest specific functions of PCGEM1 in the biology and tumorigenesis of the prostate gland.

tumorigenesis


Input: In order to elucidate the roles of the fractalkine/CX3CR1 system in microglial activation and neurodegeneration induced by status epilepticus (SE), we investigated changes in fractalkine/CX3CR1 system within the rat hippocampus following SE.

fractalkine

neurodegeneration


Input: Administration of luzindole to the CIP rats reduced PBF, aggravated the histological manifestations of pancreatitis, resulted in the significant augmentation of pancreatic MDA + 4-HNE content, and produced the marked increases of plasma levels of lipase, amylase and TNFalpha, comparing to the values observes in the rats with CIP alone.

PBF

pancreatitis


Input: We observed a marked decrease in CDC2 and CDK2 kinase activity associated with a corresponding decrease in the amount of CDC2 but not CDK2 protein; a decreased growth potential of Adp21WAF1/CIP1-infected cells demonstrated by diminished [3H] thymidine incorporation, increased cell doubling time and G1-arrested cell cycle; an association between Adp21WAF1/CIP1-infected cells and inhibition of aneuploid cell accumulation; and an alteration of the malignant phenotype of cells was evidenced by the loss of anchorage-independent growth in soft agar and the failure to induce tumorigenesis in both peripheral and intracerebral xenograft models, including the prevention of tumor formation Adp21WAF1/CIP1 infection 2 days post tumor cell implantation.

tumorigenesis


Input: No UGT expression was detected in another primary melanoma cell line, WM3211, or in any metastatic melanoma cell line examined.

UGT

metastatic melanoma


Input: Here, we screened ACT promoter and enhancers in 244 patients with sporadic Alzheimer' s disease (SAD) and 205 control patients, both of north Han-Chinese origin.

ACT

sporadic


Input: We used methylation-specific polymerase chain reaction (MS-PCR) and bisulfite sequencing to analyze the methyaltion level of the SOX1 promoter in seven HCC cell lines, 54 clinical HCCs, 42 cirrhotic livers, 21 livers with chronic hepatitis, and 15 control livers.

HCC

chronic hepatitis


Input: A sporadic distribution of S100A12 was observed in a heatmap among the patients with different infections and bacterial pneumonia.

sporadic


Input: We examined the relationship between plasma RBP4 levels, expression of RBP4 in skeletal muscle and adipose tissue, and insulin sensitivity in Mexican Americans with varying degrees of obesity and glucose tolerance.

insulin sensitivity


Input: Thus, Slit2/Robo1 signaling is oncogenic in intestinal tumorigenesis.

tumorigenesis


Input: Additionally, suppression of two of these targets, Rac2 and twinfilin, potentiated the action of the front-line chemotherapeutic vincristine, suggesting a critical relationship between cell motility and tumor relapse in hematopoietic malignancies.

hematopoietic malignancies


Input: This is the first time that both translocation and amplification involving the EWS gene and an unidentified gene are described.

EWS gene

translocation


Input: Identification of ATF-3, caveolin-1, DLC-1, and NM23-H2 as putative antitumorigenic, progesterone-regulated genes for ovarian cancer cells by gene profiling.

ovarian cancer

ovarian cancer


Input: We purified DCP from the plasma of 17 patients with HCC, three patients with metastatic liver tumors (MTLT), 12 with acute hepatitis (AH), five with chronic hepatitis (CH), nine with liver cirrhosis (LC), and 10 normal controls (NC).

HCC

chronic hepatitis


Input: Platelets from BSS patients are typically defective in surface expression of glycoprotein (GP) Ib-IX-V, a platelet-specific adhesion-signaling complex, composed of GPIbα disulfide linked to GPIbβ, and noncovalently associated with GPIX and GPV.

GPIX

adhesion


Input: Here we describe the novel and unusual mutation (p. T1048I) in the ATP7A gene of a child with Menkes disease.

Menkes disease

Menkes disease


Input: Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

optic atrophy


Input: A landmark genome-wide association study (GWAS) identified polymorphisms in the IL28B gene on chromosome 19 (19q13. 13) associated with response to therapy with pegylated interferon-α (PEG-IFN) and ribavirin (RBV) and spontaneous viral clearance in acute hepatitis C. Furthermore, IL28B genotype is associated with changes of lipid metabolism and insulin resistance.

IFN

insulin resistance


Input: Activity of continuous infusion plus pulse interleukin-2 with famotidine in patients with metastatic kidney cancer or melanoma previously treated with interleukin-2.

kidney cancer

kidney cancer


Input: It is possible that mosaic KIF11 mutations cause the remainder of sporadic cases, which the methods employed here were not designed to detect.

sporadic


Input: These findings demonstrated that combined administration of Ad-ERβ with SOC-ICG-Der-01/NIR thermotherapy represents a promising colon cancer therapeutic strategy.

SOC

colon cancer


Input: In a Cox regression model, the adjusted hazard ratio for the risk of disease progression after treatment with EGFR TKIs was 0. 59 (95% confidence interval [CI], 0. 40-0. 87; P =. 008) for patients with EGFR mutations, 4. 58 (95% CI, 2. 07-10. 15; P <. 001) for patients with ALK rearrangements, and 4. 23 (95% CI, 1. 65-10. 8; P =. 003) for patients with KRAS mutations.

ALK

regression


Input: In vivo CD4 T-cell reactivity (delayed type hypersensitivity) was assessed by Multitest Merieux.

hypersensitivity


Input: Among them, 18 had salivary gland mucosa-associated lymphoid tissue (MALT) B-cell lymphoma, 20 myoepithelial sialoadenitis (MESA), and 36 no lymphoproliferative disorders (LPD).

LPD

sialoadenitis


Input: In contrast, hyperthermia-induced seizures did not cause significant changes in the number of detectable GAT-1-ir somata.

GAT

seizures


Input: We observed activation of Hic1 expression in the embryonic anlagen of many tissues displaying anomalies in MDS patients.

MDS

MDS


Input: We report on a case of XX male sex reversal associated with a novel de novo duplication of the SOX3 gene.

SOX3 gene

sex reversal


Input: We have previously reported that decreased expression of RAS protein activator like-1 (RASAL1), a member of the RAS-GTPase-activating proteins that switch off RAS activity, contributes to colon tumor progression.

colon tumor


Input: Here, we demonstrate the existence of naturally-existing CD4 (+) CD25 (+) Foxp3 (+) Tregs (nTregs) influencing thyroiditis development in naive susceptible mice and that induction of thyroiditis in these mice involves overcoming peripheral homeostatic immune suppression by nTregs.

thyroiditis


Input: Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.

glucose 6-phosphate translocase

glycogen storage disease type Ib

glucose 6-phosphate translocase

glycogen storage disease type Ib


Input: Deficiency of ataxia telangiectasia mutated kinase modulates cardiac remodeling following myocardial infarction: involvement in fibrosis and apoptosis.

ataxia telangiectasia mutated

fibrosis

ataxia telangiectasia mutated

fibrosis


Input: In one case, whereas normal pancreas remained negative, the corresponding tumor and its metastasis displayed regular transcripts of pS2 and hSP.

metastasis


Input: Deficits in social behavior were detected in En2 (-/-) mice across maturation that included decreased play, reduced social sniffing and allogrooming, and less aggressive behavior.

aggressive behavior


Input: Associations of HLA-DR3/DQ2 with GAD65 and DR4 with IA-2 antibodies in insulin-dependent diabetes mellitus (IDDM) and DR3/DQ2 with GAD65 antibodies in latent autoimmune diabetes in adult (LADA) patients are known.

autoimmune diabetes


Input: Moreover, dominant-negative ATF6, or ATF6-targeted miRNA blocked sI-mediated grp78 induction, and the latter increased cardiac myocyte death upon simulated reperfusion, demonstrating critical roles for endogenous ATF6 in ischemia-mediated ER stress activation and cell survival.

ischemia


Input: We observed impaired glucose uptake, muscle insulin signaling (p-Akt), and increased markers of NF-κB signaling (p-IκBα), inflammation (p-JNK, IL-6), TLR4, and the rate-limiting enzyme of ceramide biosynthesis, SPT2, with HU WT (P < 0. 05), but not in HU MyD88 (-/-) mice.

inflammation


Input: The best-fitting combination of rs6259, rs858521, and rs727428 and body mass index, waist, hip, age, and smoking status accounted for 24% of the variance in SHBG levels (natural logarithm transformed).

SHBG

body mass index


Input: In contrast, intraventricular administration of prolactin caused bradycardia, hypotension and an enhancement in the epinephrine-induced reflex bradycardia in conscious rats.

prolactin

hypotension

prolactin

hypotension


Input: Detection of t (2; 5) in anaplastic large cell lymphoma: comparison of immunohistochemical studies, FISH, and RT-PCR in paraffin-embedded tissue.

FISH

large cell lymphoma


Input: Proviral integrations were enriched near prostate cancer susceptibility loci in cells grown in androgen-deficient medium (p < 0. 001), and five candidate genes that influence AIPC were identified; ATPAF1, GCOM1, MEX3D, PTRF, and TRPM4.

AIPC

prostate cancer susceptibility


Input: To examine the importance of the bacteriological component in TB transmission, we investigated the number of tuberculin skin test-positive (TST induration, ≥ 10 mm) contacts and secondary cases observed in contact investigations around TB cases in relation to the size of the genotype cluster the patient belonged to at the time of diagnosis.

TST

secondary


Input: The tachykinin receptor 3 is associated with alcohol and cocaine dependence.

tachykinin receptor 3

cocaine dependence

tachykinin receptor 3

cocaine dependence


Input: In two consanguineous families with five affected individuals from Turkey with a GAMOS-like presentation, we identified a shared homozygous variant leading to partial exon 4 skipping in & lt; i & gt; nucleoporin, 107-KD & lt;/i & gt; (& lt; i & gt; NUP107 & lt;/i & gt;).

nucleoporin, 107

GAMOS

nucleoporin, 107

GAMOS


Input: Multivariate linear regression analysis revealed visceral NNT expression as age and gender independent predictor of BMI, waist circumference, visceral fat area, and% body fat, but not FPI and 2 h OGTT glucose.

NNT

waist circumference


Input: Clinicopathological significance of BGP expression in non-small-cell lung carcinoma: relationship with histological type, microvessel density and patients' survival.

BGP

non-small-cell lung carcinoma


Input: p53 Gene mutations in sporadic colorectal carcinoma in Guangxi region.

p53 Gene

sporadic


Input: Heterozygous inactivating germline mutations of armadillo repeat containing 5 (ARMC5) have very recently been described as cause for sporadic PMAH.

sporadic


Input: These findings provide novel insights into the crucial role of LOX-1 and Nrf2 in the pathogenesis of preeclampsia.

preeclampsia


Input: To study if there is any association between frequency of HLA-DRB1 and DQB1 genes and susceptibility or resistance to Helicobacter pylori (Hp) infection among children of Yi ethnic group in Kunming for understanding the immunogenetic features of the digestive diseases associated with Hp infection.

digestive diseases


Input: The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome.

Rett syndrome

Rett syndrome


Input: To investigate whether hypoxia inducible factor (HIF)-1α modulates vasculogenic mimicry (VM) by upregulating VE-cadherin expression in esophageal squamous cell carcinoma (ESCC).

VE-cadherin

esophageal squamous cell carcinoma


Input: MicroRNA-100 regulates neovascularization by suppression of mammalian target of rapamycin in endothelial and vascular smooth muscle cells.

mammalian target of rapamycin

neovascularization


Input: The level of netrin-1, netrin-1 receptors, ie, DCC, UNC5H1, UNC5H2, UNC5H3, and the proinflammatory markers cyclooxygenase-2 and inhibitor of nuclear factor-kappaB (IkappaB) alpha were analyzed in a panel of 59 primary sporadic colorectal carcinomas.

sporadic


Input: The major genetic pathways of CRC are the Chromosome Instability Pathway representing the pathway of sporadic CRC through the K-ras, APC, and P53 mutations, and the Microsatellite Instability Pathway representing the pathway of hereditary non-polyposis colon cancer through mutations in mismatch repair genes.

sporadic


Input: ERG abnormalities have been documented in other mutations of the PAX6 gene, and we propose that the retinal pathology causing these ERG abnormalities may contribute to the photophobia experienced by patients with aniridia.

PAX6 gene

photophobia


Input: Wistar albino rats were placed into incubators at birth and exposed to an atmosphere alternating between 50% and 10% of oxygen every 24 h. After 14 days, the animals were allowed to recover in room air and sacrificed at postnatal day 20 (P20).

albino


Input: In conclusion, among recurrent miscarriage women, the HLA-DR3 phenotypes seem to predispose to formation of ACL antibodies and ANA.

ACL

recurrent miscarriage


Input: Truncation mutations of ASXL1 occur in colorectal cancers with microsatellite instability (MSI), malignant myeloid diseases, chronic lymphocytic leukaemia, head and neck squamous cell carcinoma, and liver, prostate and breast cancers; those of ASXL2 occur in prostate cancer, pancreatic cancer and breast cancer and those of ASXL3 are observed in melanoma.

pancreatic cancer


Input: We assessed the effect of a neutrophil elastase inhibitor, EPI-hNE-4, in single (bleomycin, 1. 2 mg/rat intratracheally) and repeated (bleomycin, 1. 2 mg/rat plus endotoxin and 1 mg/kg intratracheally 24 h later) lung injuries to assess the role of neutrophil in fibrosis.

neutrophil elastase

fibrosis


Input: These findings suggest a role of UCP2-UCP3 gene cluster haplotypes in diabetes; in particular, the effects of the high-risk haplotypes were more apparent in overweight Caucasian women.

UCP3 gene

overweight


Input: Sprague-Dawley rats received subcutaneous injections of CCl4 twice weekly in olive oil (1: 1, 0. 3 ml per kg body weight) for 6 or 12 weeks until ascites developed, or saline in olive oil as control.

body weight


Input: Direct immunostaining by means of monoclonal antibodies directed against individual intermediate filament proteins keratin 8 and 17 revealed that the percentage of K8 + K17 + cells in material from patients with fibrocystic disease and fibroadenoma significantly exceeded that found in carcinoma specimens.

fibroadenoma


Input: Levels of factor VIII procoagulant activity, von Willebrand factor (vWF) and ristocetin cofactor were similar to findings for an identically treated comparison group who remained free of thrombotic complications.

von Willebrand factor

thrombotic

von Willebrand factor

thrombotic


Input: Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability.

MIM

spondyloepimetaphyseal dysplasia


Input: The cultured CCS cells have the t (12; 22) (q13; q12) translocation and express the hybrid EWS/ATF-1 gene.

EWS

translocation


Input: In the largest study to date, we examined the association of plasma CRP with coronary artery calcification (CAC) in 914 asymptomatic subjects in the Study of Inherited Risk of Coronary Atherosclerosis (SIRCA).

CAC

coronary artery calcification


Input: The results support the deduction that BE is a tissue with enhanced glycoprotein synthesis machinery (DPP4, ATP2A3, AGR2) designed to provide strong mucosal defenses aimed at resisting gastro-esophageal reflux.

gastro-esophageal reflux


Input: Our data constitute the first extensive study of IL-8 gene overexpression in breast cancer cells and suggest that the high expression of IL-8 in invasive cancer cells requires a complex cooperation between NF-kappaB, AP-1 and C/EBP transcription factors.

NF-kappaB

invasive cancer


Input: An association analysis of HLA-DRB1 with systemic lupus erythematosus and rheumatoid arthritis in a Japanese population: effects of * 09: 01 allele on disease phenotypes.

systemic lupus erythematosus

systemic lupus erythematosus


Input: Wilson disease (WD) is caused by accumulation of excess copper (Cu) due to a mutation in the gene encoding the liver Cu transporter ATP7B, and is characterized by acute liver failure or cirrhosis and neuronal cell death.

cirrhosis

cirrhosis


Input: An increase in factor VII was found to be a risk factor for ischemic heart disease.

factor VII

ischemic heart disease


Input: Our results showed the induction of HIF-1a via hypoxia and consequences of increased expressions of the TFF3 and VEGF in gastric cancer SGC-7901 cells.

hypoxia


Input: Using PC12 cells and primary cultures of cortical neurons treated with amyloid-β (Aβ) (1-40) or Aβ (1-42) peptide, we demonstrated that β-asarone can protect PC12 cells and cortical neurons and inhibit neuronal apoptosis by activating the CaMKII-α/p-CREB/Bcl-2 pathway.

CREB

amyloid


Input: The alteration of T helper 1 (TH1) and TH2 responses and related cell-mediated immunity has been supposed to be associated with the immunological pathogenesis in the development of schizophrenia.

schizophrenia


Input: Moreover, SFRP5 inhibits cervical tumorigenesis through interfering Wnt pathway in vitro.

tumorigenesis


Input: In contrast, the expression of other Bcl-2 family antiapoptotic members such as Bcl-2 and Bcl-XL was not affected by ascites.

Bcl-XL

ascites


Input: We measured the homeostasis model assessment for insulin resistance (HOMA-IR), plasma adiponectin and its isoforms, and messenger RNA for adiponectin receptors (AdipoR1 and AdipoR2) on peripheral blood mononuclear cells in 54 stable transplant recipients, 50 patients established on hemodialysis, and 52 controls; groups were matched for body mass index and sex.

body mass index


Input: We sought to determine the association of common APOA5 genetic variants with carotid IMT and stenosis.

stenosis


Input: The polymorphisms in TGF-beta (2) may become important information for asthma susceptibility in children.

TGF-beta

asthma susceptibility


Input: Cardiac-specific overexpression of diacylglycerol kinase zeta attenuates left ventricular remodeling and improves survival after myocardial infarction.

diacylglycerol kinase zeta

myocardial infarction

diacylglycerol kinase zeta

myocardial infarction


Input: The production of N-cad/CTF2 was inhibited by pretreatment of γ-secretase inhibitors or siRNA transfection of nicastrin, indicating that γ-secretase is involved in the cleavage.

nicastrin

cad


Input: All patients included in this series had documented deafness, associated with EVA and without any evidence of syndromic disease.

EVA

deafness


Input: Our investigations document that human thyroid cancer cell lines commonly express PPARgamma, but chromosomal translocations involving PPARgamma are uncommon.

PPARgamma

thyroid cancer

PPARgamma

thyroid cancer


Input: Over-expression of Cyr61 also significantly enhanced adhesion activities of HepG2 cells to various ECM proteins.

adhesion


Input: Moreover evidences point out the increase in PGC1 expression induced by exercise as an important element for the improvement of insulin sensitivity in skeletal muscle via increase in mitochondria density and glucose transporter expression (GLUT4).

insulin sensitivity


Input: In this study, we evaluated the anti-tumor efficacy of humanized anti-death receptor 4 (DR4) antibody mapatumumab (Mapa) by comparing it with TRAIL in combination with hyperthermia.

hyperthermia


Input: No increase in risk was conferred by smoking or alcohol use, or by a previous family history of SAH or of atherosclerosis.

SAH

alcohol use


Input: We examined MSI in 126 patients with sporadic CRC and the methylation status of the MLH1 and MSH2 promoter regions in the cases with MSI/LOH by using a panel of 5 microsatellite markers (BAT26, D5S346, D18S35, D2S123 and FGA) and methyl-specific PCR (MSP) of bisulfite converted DNA.

sporadic


Input: p. H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.

21-hydroxylase deficiency

21-hydroxylase deficiency


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

glioblastoma multiforme

glioblastoma multiforme


Input: This study aimed to investigate whether LSD1 in metastasized MRMT-1 breast cancer cells in bone marrows participated in the production of endogenous formaldehyde in bone cancer pain rats.

bone cancer


Input: The relationship of expression of the C-C chemokines eotaxin, eotaxin 2, RANTES, monocyte chemoattractant protein-3 (MCP-3), and MCP-4 to the kinetics of infiltrating eosinophils, basophils, and other inflammatory cells was examined in allergen-induced, late-phase allergic reactions in the skin of human atopic subjects.

RANTES

atopic


Input: As a possible mechanism for this improvement in weight, BML-111 was found to promote nuclear translocation of nuclear factor erythroid 2-related factor 2 (Nrf2), up-regulate the expression of antioxidant enzyme genes, superoxide dismutase (SOD) and glutathione peroxidase (GPx), and consequently inhibited trophoblast cells apoptosis.

weight


Input: Our data suggest that hypermethylation of MLH1, but not of MSH2, is associated with the MSI phenotype in sporadic endometrial carcinomas.

sporadic


Input: We hypothesized that hypoxia could upregulate CX3CR1 expression and lead to an increased chemotactic response to CX3CL1 in prostate cancer cells.

hypoxia


Input: In testes, while apoptosis-related caspase 3 and Bcl-xL mRNAs were significantly changed after 14 days, 3 beta-hydroxysteroid dehydrogenase mRNA was greatly reduced immediately after cryptorchidism.

caspase 3

cryptorchidism

caspase 3

cryptorchidism


Input: Unresponsiveness to IFN-alpha is common in chronic hepatitis C. Since conditions associated with an increased oxidative stress (advanced age, steatosis, fibrosis, iron overload, and alcohol consumption) reduce the likelihood of response, we hypothesized that oxidative stress may affect the antiviral actions of IFN-alpha.

IFN-alpha

alcohol consumption


Input: Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, hypercholesterolemia, and hyperuricemia revealed that two polymorphisms (242C--> T in the NADH/NADPH oxidase p22 phox (p22-PHOX) gene and 2136C--> T in the thrombomodulin (THBD) gene) in men and two polymorphisms (584G--> A in the paraoxonase 1 (PON1) gene and 2445G--> A in the fatty acid-binding protein 2 (FABP2) gene) in women were significantly associated with restenosis after POBA.

hypercholesterolemia


Input: Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

Cone-rod dystrophy

Cone-rod dystrophy


Input: In the present study, we demonstrate that NF-kappaB, whether activated by recombinant human tumor necrosis factor (TNF)-alpha or by ectopic expression of the p65 subunit, is involved in extracellular matrix adhesion and invasion of osteotropic PC-3 and C4-2B, but not LNCaP, cells.

NF-kappaB

adhesion


Input: We have performed a comprehensive mutation analysis of the EHMT1 gene in 23 patients with clinical presentations reminiscent of 9q subtelomeric deletion syndrome.

9q subtelomeric deletion syndrome

9q subtelomeric deletion syndrome


Input: We report that the histone demethylase jumonji domain containing protein 2C (JMJD2C) selectively interacts with HIF-1α, but not HIF-2α, and that HIF-1α mediates recruitment of JMJD2C to the hypoxia response elements of HIF-1 target genes.

jumonji

hypoxia


Input: The obtained results indicate that OFQ/N can inhibit the morphine withdrawal symptoms induced by naloxone.

OFQ

withdrawal symptoms

OFQ

withdrawal symptoms


Input: Country-specific CRC incidence data, per capita consumption data for meat and other dietary factors, prevalence of the rapid/intermediate NAT2 phenotype, and prevalence of smoking for 27 countries were used.

smoking


Input: Bcl-xL levels were higher in endometrial carcinoma (median, 1. 23 AU; range, 0. 03 (4. 29 AU) than in normal tissues (median, 0. 56 AU; range, 0. 46-1. 48 AU; P <. 048), whereas no significant difference was observed in cervical tissues.

Bcl-xL

endometrial carcinoma


Input: In the context of Total Therapy 2, a tandem transplant trial for newly diagnosed myeloma, comprehensive information was available in 220 patients on standard prognostic factors (SPF), magnetic resonance imaging (MRI)-defined focal lesions, cytogenetic abnormalities (CA), fluorescence-in-situ-hybridisation (FISH)-derived amplification of chromosome 1q21 (amp1q21) and deletion of 13q14, as well as gene expression profiling (GEP).

GEP

cytogenetic abnormalities


Input: This study was designed to elucidate the differential roles of VEGF isoforms in scar formation after trabeculectomy.

VEGF

scar


Input: At P14-15, genotype had no effect on total bradycardia, but Pet-1 (-/-) animals had up to seven times more total hypoxia (P < 0. 001), owing to longer and more frequent apneas and a normalized Vo (2).

hypoxia


Input: ACT based on the administration of cytotoxic T cells genetically engineered to express a chimeric antigen receptor (CAR) recognizing CD19 expressed by B cell malignancies has been shown to induce complete lasting responses in patients with chronic lymphocytic leukaemia (CLL) and acute lymphoblastic leukaemia (ALL).

ACT

acute lymphoblastic leukaemia


Input: Promoter hypermethylation of RAMP2, epidermal growth factor-containing fibulin-like extracellular matrix protein 1, and deleted in U Twenty Twenty cells was detected in 36% to 77% of 22 lung cancer cell lines and in 38% to 50% of 32 primary lung tumors, whereas hypermethylathion of these genes was rarely found in the matched normal samples.

lung cancer

lung cancer


Input: Triarylmethane (TRAM)-34, a KCa3. 1 blocker, dose-dependently inhibited the generation and maintenance of the ovalbumin-induced airway inflammation associated with increased Th2-type cytokines and decreased Th1-type cytokine, as well as subepithelial extracellular matrix deposition, goblet-cell hyperplasia, and AHR in a murine model of asthma.

TRAM

asthma


Input: It has been shown that some thrombotic patients carry an additional genetic risk factor such as protein C, protein S, antithrombin deficiency or the G20210A mutation on the prothrombin gene.

protein S

thrombotic

protein S

thrombotic


Input: Agonists of the retinoic acid-and retinoid X-receptors inhibit hepatocyte growth factor secretion and expression in U87 human astrocytoma cells.

hepatocyte growth factor

astrocytoma

hepatocyte growth factor

astrocytoma


Input: When artificially immobilized, however, MATN3 induced chondrocyte adhesion via a α5β1 integrin-dependent mechanism, AKT activation and favored survival and ECM synthesis.

AKT

adhesion


Input: Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.

mental retardation

mental retardation


Input: Patients with the CT/TT genotype reported a higher VAS leg pain intensity (P = 0. 002) and also a lower PPT in the gluteal muscles (left P = 0. 016; right P = 0. 016) compared with patients with the CC genotype during 1 year of follow-up.

PPT

leg pain


Input: Human ovarian cancer, cell lines, and primary ascites cells express the human Mullerian inhibiting substance (MIS) type II receptor, bind, and are responsive to MIS.

MIS

ascites


Input: The IL-4 receptor (IL-4R) and IL-13 genes are candidate genes in atopic diseases.

atopic


Input: Our data also reveal the usefulness of the SP assay to identify and isolate MSC cells from carcinomas.

MSC

carcinomas


Input: When stratified by cumulative smoking exposure, in the subgroup of smokers with high pack-years, NAT2 slow genotypes were significantly associated with increased breast cancer risk (OR = 1. 400, 95% CI = 1. 099-1. 784).

smoking


Input: While accounting for family clusters and blood pressure at baseline and with adjustments applied for sex, age, body mass index, smoking and drinking, total cholesterol, and antihypertensive drug treatment, all associations of systolic and diastolic blood pressure changes with nine single nucleotide polymorphisms (SNPs) in PEAR1 were all non-significant (p ≥ 0. 059).

drinking


Input: In addition, HHV-6 DNA sequences were significantly more prevalent in LAS biopsies (13/20, 65%) than in HIV-unrelated reactive lymphadenopathies (2/10, 20%; P = 0. 02) and the presence of HHV-6 sequences correlated closely with a histologic pattern of follicular hyperplasia (13/16, 81%; P = 0. 003).

LAS

follicular hyperplasia


Input: Forty-eight rats were divided into a sham group (in which sham laparotomy was performed) and a CLP group (in which peritonitis was induced by cecal ligation and perforation).

CLP

peritonitis


Input: We studied the effects of CYP2C9, mEH, GSTA1, and GGCX genotypes on warfarin maintenance doses, accounting for age, weight, vitamin K plasma concentrations and concurrent medications, in 100 patients undergoing therapeutic anticoagulation.

weight


Input: Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild mutations, who were categorized as " Mild " (controls) or " Severe " (cases), based on renal manifestations.

mild


Input: OPG 163 A--> G, 209 G--> A, 245 T--> G, and 1181 G--> C polymorphisms; RANK 421 C--> T and 575 C--> T polymorphisms; and RANKL rs12721445 and rs2277438 polymorphisms, as well as the bone mineral density at the lumbar spine (LSBMD) and femoral neck (FNBMD) were analyzed.

RANKL

bone mineral density


Input: Increased risks of colorectal cancer associated with the 113Y allele and imputed EPHX1 phenotype were observed among individuals with high body mass index (BMI; ≥ 25. 0 kg/m (2)), but not among those with low BMI (< 25. 0 kg/m (2)).

body mass index


Input: One the basis of two special typical cases, the authors detail the symptoms and signs and consider the physiopathology of inappropriate secretion of antidiuretic hormone related to vincristine. Urinary ADH was measured in both cases.

ADH

inappropriate secretion of antidiuretic hormone

ADH

inappropriate secretion of antidiuretic hormone


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

GHRH

bipolar disorder


Input: Despite the high proportion of functional revertant T cells, the patient still has severe infections and autoimmune disorders, suggesting that re-expression of WASP in T cells is not sufficient to normalize immune functions fully in patients with WAS.

WASP

infections


Input: The role of TP53 somatic mutations in the development of brain tumors has been elucidated in the individual-participant meta-analysis that provided, for the first time, strong evidence that mean age at the onset of sporadic brain tumor is significantly lower in patients with mutated compared with wild-type TP53 in all groups stratified by tumor grade.

sporadic


Input: The cannabinoid receptor 1 gene (CNR1) on chromosome 6q14-15 is an excellent candidate gene for cannabis dependence due to the important role of the G-protein coupled receptor encoded by this gene in the rewarding effects of Delta9-tetrahydrocannabinol.

G-protein coupled receptor

cannabis dependence

G-protein coupled receptor

cannabis dependence


Input: Because it has been shown to protect striatal neurons against excitotoxic injury, a second-generation ciliary neurotrophic factor (CNTF) (AXOKINE) was administered by continuous intracerebral infusion (2 microg/day) beginning 28 h after hemorrhage and continuing for 2 weeks.

CNTF

hemorrhage


Input: Genetic factors, as Apo E genotypes, could allow the early identification of patients who are at a high risk for developing hyperlipidemia PST.

PST

hyperlipidemia


Input: The majority of SCH patients are sporadic, but familial SCH has been described.

SCH

sporadic


Input: After evaluation of secondary causes of eosinophilia, the 2008 World Health Organization establishes a semimolecular classification scheme of disease subtypes including " myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1', chronic eosinophilic leukemia, not otherwise specified " (CEL, NOS), lymphocyte-variant HE, and idiopathic hypereosinophilic syndrome (HES), which is a diagnosis of exclusion.

PDGFRA

abnormalities


Input: When animals were challenged intravenously at 4 or 6 months with the uncloned pathogenic SIVmac251 strain, viremia was curtailed by approximately 1, 000-fold at peak height without any sign of hyperactivation in CD4 (+)-or CD8 (+)-T-cell compartment or increase in lymph node cell cycling.

viremia


Input: IL-27 inhibited the production of IL-17A and IL-17F in naive T cells by suppressing, in a STAT1-dependent manner, the expression of the Th17-specific transcription factor RORgamma t. The in vivo significance of the role of IL-27 was addressed in delayed-type hypersensitivity response and experimental autoimmune encephalomyelitis (EAE).

delayed-type hypersensitivity response


Input: However, it was shown that Kindlin-2 was expressed in the stromal element of all the transplanted tumors and archival specimens of human bladder cancer.

bladder cancer

bladder cancer


Input: Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

thoracic aortic aneurysm

thoracic aortic aneurysm


Input: We have introduced an RNA-based screen for small APP 5'-UTR binding molecules to identify leads that limit APP translation (but not APLP-1 and APLP-2) and amyloid Abeta peptide production.

UTR

amyloid


Input: We suggest that alterations in the p53 and RB pathway, both are essential in controlling the cell-cycle progression, are critical points in the tumorigenesis of sporadic and NF1-associated MPNSTs, whereas the PTEN gene seems to play no significant role in this process.

sporadic


Input: In pancreatic tumor cells, exogenous MDA-7 protein activates STAT3 and kills cells via engagement of IL-20 receptors.

pancreatic tumor


Input: A total of 104 infertile men were selected with idiopathic nonobstructive azoospermia, cryptozoospermia, oligozoospermia, oligonecrozoospermia, and oligoasthenoteratozoospermia (OAT) syndrome, along with a control group of 106 men with proven paternity.

OAT

infertile


Input: Reporter gene assays using minimal reporters containing hypoxia response elements and activator protein-1 (AP-1) elements revealed that the activities of hypoxia inducible factor-1α (HIF-1α) and AP-1, key transcription factors for VEGF gene transcription, were suppressed by quercetin.

hypoxia


Input: Although other non-bone-seeking radiotracers such as iodine-123-labeled amyloid P component ((123) I-SAP), 123-iodine-Meta-iodobenzylguanidine ((123) I-mIBG), 99m-technetium-labeled protease inhibitor, and indium-111-labeled amyloid antibodies have also shown some success in identifying cardiac amyloidosis, the future, however, may lie in labeling derivatives of thioflavin-T. With the recent success of visualizing deposition of amyloid β in the brain, the US Food and Drug Administration-approved PET imaging agent (18) F-florbetapir may be used to target cardiac amyloidosis next.

SAP

cardiac amyloidosis


Input: Thus, salusin-β enhanced monocyte adhesion to vascular ECs through NF-κB-mediated inflammatory responses in ECs, which can be modified by PI3K or ERK signals.

NF-κB

adhesion


Input: In our cohort of 94 patients with congenital myopathy, two related female patients and two sporadic, male patients were found to carry mutations in the tropomyosin 2 (TPM2) and tropomyosin 3 (TPM3) genes, respectively.

sporadic


Input: The present study was designed to investigate the role of HIF-1α in mild hypoxia-induced cardiomyocytes hypertrophy and its underlying mechanism.

hypertrophy


Input: The RNA interference of amino acid transporter LAT1 inhibits the growth of KB human oral cancer cells.

oral cancer


Input: Results from these studies support the hypothesis that combining ligand activation of PPARbeta/delta with inhibition of COX-2 activity can inhibit chemically induced skin tumor progression by modulating differentiation.

skin tumor

skin tumor


Input: The upregulation of NS, EGF and EGFR mRNA frequently occurs in ESCC tissues and is associated with malignancy of human esophageal squamous tumors.

EGF

esophageal


Input: Thus, suppression of topo IIbeta and/or PRDX2 levels in myeloid leukemia cells provides a novel approach for improving ATRA-based differentiation therapy.

myeloid leukemia

myeloid leukemia


Input: Intriguingly, HOXD13, a member of the HOXD cluster not normally expressed in hematopoietic cells, was recently identified as a partner of NUP98 in a t (2; 11) translocation associated with t-AML/MDS.

translocation


Input: These findings suggested that CSC-like SP cells expressing alpha2-, alpha5-, beta3-, and beta5-integrin, and CD44, may play an important role for peritoneal metastasis in gastric carcinoma.

gastric carcinoma


Input: By logistic regression, with age and factor VIII (categorical [< or = 150%, > 150%]) as explanatory variables and group (cases, controls) as the dependent variable, after adjusting for age, high factor VIII was a significant predictor for miscarriage (odds ratio, 3. 28; 95% confidence interval, 1. 34-8. 04; P =. 01).

factor VIII

miscarriage


Input: Our objective was to examine the association of genetic variation at IGF1 with height, weight and BMI using a sample of premenopausal women.

weight


Input: Expression of the Rap1 guanine nucleotide exchange factor, MR-GEF, is altered in individuals with bipolar disorder.

guanine nucleotide exchange factor

bipolar disorder

guanine nucleotide exchange factor

bipolar disorder


Input: We concluded that GGT is positively related to age in the 20s to late 30s and to BMI in overweight subjects; both relationships of age and BMI were independent of alcohol consumption.

GGT

alcohol consumption


Input: We measured DNA methylation in 342 transitional cell carcinoma tumors at BCL2, PTGS2 (COX2), DAPK, CDH1 (ECAD), EDNRB, RASSF1A, RUNX3, TERT, and TIMP3.

transitional cell carcinoma


Input: The objectives of this study were to assess RelB expression relative to markers of inflammation as well as its association with cardiovascular and pulmonary features of COPD patients at stable-state and exacerbation.

RelB

inflammation


Input: Additionally, interactions between FGB and with environmental factors (alcohol and smoking in men, and BMI in women) were found.

FGB

smoking


Input: However, the effects of targeting of mTORC2 on malignant pheochromocytomas (PCC) and paragangliomas (PGL) have not been reported.

paragangliomas


Input: Muscle biopsies from untreated patients with dermatomyositis, polymyositis, inclusion body myositis, and controls were investigated for the expression of endothelial (CD31, von Willebrand factor, vascular endothelial growth factor receptor 2), hematopoietic (CD34, CD133, CD45), and myogenic (Pax7, MyoD) markers by immunohistochemistry and reverse-transcriptase-polymerase chain reaction.

dermatomyositis


Input: There is a considerable amount of evidence supporting a role for the 5-HT (7) receptor in depression.

5-HT (7

depression

5-HT (7

depression


Input: The inactivation of the ALK oncogene on doxycycline treatment was sufficient to induce sustained regression of both hematopoietic tumors and skin disease.

ALK

regression


Input: Overall, LOH at any 3p region was frequent (80%) in both groups of cancers and in their associated VIN lesions.

VIN

cancers


Input: Neurological function (assessed using the Modified Neurological Severity Score), infarct volume, MMP2/AQP4/AQP9 mRNA and protein expression, and inflammatory cell infiltration were all evaluated at 24 h post-reperfusion.

infarct


Input: P21 and P15 proteins mainly distributed in the interstitium of portal areas, the piece meal necrotic sites and the nuclei and cytoplasm of the hepatocytes.

necrotic


Input: The three stop codon mutants and one of the splice mutants had phenotypes indistinguishable from the Pde6b (rd1) mouse in rapidity of onset of retinal degeneration, suggesting that they are null alleles.

retinal degeneration

retinal degeneration


Input: The baseline IP-10 levels were significantly correlated with the degree of fibrosis and had the ability to differentiate between patients with mild, moderate and advanced stages of fibrosis (F0-1: 95. 24 ± 33. 08 pg/ml, n = 25; F2: 158. 70 ± 52. 74 pg/ml, n = 37; F3-4: 357. 45 ± 162. 18 pg/ml, n = 22; P < 0. 001).

fibrosis


Input: We find that four alleles (R185Q, L289M, A455S, and A472T) result in mild (< 30%), six (Q19P, A167V, R185W, D426N, V427M, and R431H) in moderate (30%-70%), and five (P406L, L441P, R453C, T466M, and Q521E) in severe (> 70%) reduction in POX activity, whereas one (Q521R) increases POX activity.

POX

mild


Input: Our findings are the first to suggest that impairment of SHP-1 expression is involved in the physiopathology of schizophrenia, opening fruitful new avenues for ameliorating treatment at least of negative symptoms.

schizophrenia

schizophrenia


Input: The aim of this study was to determine whether TNF-α-308 gene polymorphism was associated with smoking-related COPD and whether it was associated with pulmonary function parameters (PFTs), body mass index (BMI), and prognosis.

TNF-α

smoking


Input: The evidence of a relation between folate intake and one-carbon metabolism (OCM) with pancreatic cancer (PanCa) is inconsistent.

OCM

pancreatic cancer


Input: Further, cleaved CRIPTO was detected in media from seminoma and embryonal carcinoma cell lines, suggesting that cleaved CRIPTO may provide diagnostic indication of germ cell cancer.

CRIPTO

germ cell cancer


Input: In particular, increased levels of MIF were associated with hypergammaglobulinemia.

MIF

hypergammaglobulinemia


Input: Expression of HSPF1 and LIM in the lymphoblastoid cells derived from patients with bipolar disorder and schizophrenia.

bipolar disorder

bipolar disorder


Input: We also identified an excess of rare promoter and 5' untranslated region (UTR) variants in psoriasis cases compared to controls (p = 0. 041), whereas there was no significant difference in the number of rare coding and rare 3' UTR variants.

UTR

psoriasis


Input: The most frequently observed brain structural anomalies included agenesis of the corpus callosum and neuronal migration/organisation disorders as well as intracerebral cysts, porencephaly and cerebellar malformations.

neuronal migration

porencephaly


Input: Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.

distal arthrogryposis type 5D

distal arthrogryposis type 5D


Input: BS type II is caused by mutations in the KCNJ1 gene and usually presents with transient hyperkalemia.

KCNJ1 gene

hyperkalemia


Input: The present study aimed at searching for association between 5-HTR2A polymorphism and schizotypic personality traits being considered as recognized phenotype predisposing to schizophrenia.

personality traits


Input: The aim of this study was to assess the expression of LST1 in colonic epithelium and endothelium during intestinal inflammation.

inflammation


Input: Administration of CBD-VEGF also induced reduction of scar size, whereas native VEGF did not have these effects.

VEGF

scar


Input: Using this sensitive approach, TP53 was found to be frequently mutated in both BRCA1 (34 of 35, 97%) and sporadic (35 of 38, 92%) BLCs.

sporadic


Input: The 12-bp deletion is in linkage disequilibrium with the minor " T " allele of the-656 C/T SNP (NT_033927. 7 (SERPINH1): g. 5495402C > T) that reduces promoter activity in amnion fibroblast cells and is associated with a significantly increased risk of preterm birth as a result of premature rupture of membranes.

preterm birth


Input: To test further the hypothesis that the TRH-induced TSH response is a vulnerability marker for alcoholism, we tested 25 young men with an alcoholic father [family history-positive (FHP)] and matched them, on alcohol consumption, to 25 young men with no identified first-or second-degree relatives with alcoholism [family history-negative (FHN)].

TRH

alcohol consumption


Input: Although similar light microscopic features are noted in EMC and SMC, fundamental differences are noted at the ultrastructural and molecular levels, suggesting that EMC and SMC represent two distinct entities in the chondrosarcoma family of tumors.

SMC

chondrosarcoma


Input: Normal Sprague-Dawley rat mammary gland epithelial cells and mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo [4, 5-b] pyridine, a carcinogen found in the diet, were examined for the expression of peroxisome proliferator-activated receptor alpha (PPAR alpha).

peroxisome proliferator-activated receptor alpha

carcinomas

peroxisome proliferator-activated receptor alpha

carcinomas


Input: None of the control cases (2 M, 3 F, 20-76 years), of cases showing slight vascular proliferation, dermal fibrosis and inflammation after radiotherapy of breast cancer (12 F, 48-79 years), of cases of atypical vascular lesions after radiotherapy (16 F, 29-81 years), and of cases of angiosarcomas of skin and soft tissues unrelated to radiotherapy (3 M, 5 F, 25-92 years) showed an amplification of MYC by FISH analysis.

MYC

inflammation


Input: In chronic inflammatory demyelinating polyneuropathy, we did not find an association with CD1 genes, but we found an association with a homozygous genotype for a low repeat number of tandem GA in the SH2D2A gene.

chronic inflammatory demyelinating polyneuropathy


Input: The younger patients had absent to mild foveal atrophy on OCT, and four of the six demonstrated foveal and parafoveal hyperfluorescence on FAF.

FAF

foveal atrophy


Input: Mechanistically, TNF-alpha present in RCM of A549 was found to mediate nuclear factor-kappaB (NF-kappaB) translocation to nucleus, whereas the soluble TRAIL present in RCM of H460 cells mobilized the nuclear translocation of PAR-4 (a proapoptotic protein).

TNF-alpha

translocation


Input: MicroRNA-195 inhibits proliferation, invasion and metastasis in breast cancer cells by targeting FASN, HMGCR, ACACA and CYP27B1.

HMGCR

metastasis


Input: HMGA1a expression was induced by hypoxia and the protein was accumulated in the nuclear speckles with the endogenous splicing factor SC35.

splicing factor SC35

hypoxia


Input: Loss of function of FMR1 is a model for neurodevelopmental and behavioural disorders, including mental retardation, autism, anxiety, and mood instability.

mood instability

mood instability


Input: We investigated the possibility that a proportion of children with sporadic rhabdomyosarcoma (RMS) carry constitutional mutations of the p53 tumor suppressor gene.

p53 tumor suppressor gene

sporadic


Input: However, no differences in allele or genotype frequencies were detected between sporadic CRC cases and controls, and no associations were observed for SLC10A2, TP53, and VDR polymorphisms.

sporadic


Input: CRP, fibrinogen, vWF, factor VIII and liver parameters were highly and positively correlated.

factor VIII

fibrinogen


Input: Among children with celiac disease the most frequent and significant haplotypes were A1/B8, A9/B5, A19/B12, A28/B22, A28/Cw1, A9/DQ3, B8/Cw7, B18/Cw5, B22/Cw1, B5/DR5, B8/DR3, B12/DR7, B5/DQ3, DR3/DQ2, DR4/DQ8 (3) and DR5/DQ3, showing a positive linkage disequilibrium.

celiac disease


Input: We recommend sequencing the TIMM8a gene, thorough ophthalmological examination, and measuring visual evoked potentials in clinically suspected male patients with either progressive hearing impairment, dystonia, or visual disability in order to establish an early diagnosis and provide appropriate genetic counselling.

TIMM8a gene

progressive hearing impairment


Input: The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia.

normal cognition


Input: Cell death involved activation of extracellular signal-related kinase (ERK), which in turn activated caspase 3 and ataxia telangiectasia and Rad3-related (ATR), both of which contributed to cytotoxicity.

caspase 3

telangiectasia


Input: The expression of NS, EGF and EGFR mRNA was determined in paired normal esophageal and ESCC tissues of 62 patients using in situ hybridization.

EGF

esophageal


Input: The polymorphism of IL-12 as well as IL-6 and IL-2 genes may contribute to susceptibility and pathogenesis of TA by altering cytokine production and inducing inflammation.

inflammation


Input: An increase of OLFM-4 mRNA was observed in the endometrium of endometriosis patients.

endometriosis

endometriosis


Input: In these Chinese patients, variants in GUCY2D are the most common cause of LCA (16. 1% cases), followed by CRB1 (11. 5%), RPGRIP1 (8%), RPE65 (5. 7%), SPATA7 (4. 6%), CEP290 (4. 6%), CRX (3. 4%), LCA5 (2. 3%), MERTK (2. 3%), AIPL1 (1. 1%), and RDH12 (1. 1%).

LCA

LCA


Input: Treatment of malignant, non-resectable, epithelial origin esophageal tumours with the humanized anti-epidermal growth factor antibody nimotuzumab combined with radiation therapy and chemotherapy.

epidermal growth factor

esophageal


Input: The surface antigen expression of oMSCs was consistent with that of MSCs; they lacked the hematopoietic and common leukocyte markers (CD34, CD45) while expressing those related to adhesion (CD29, CD166, CD44) and stem cells (CD90, CD105, CD73).

adhesion


Input: Biochemical characterizations of mucin produced by adenocarcinoma cells were focused on one of the cell lines, CL2 cells, which showed the most prominent reactivity with mucin-specific monoclonal antibody.

adenocarcinoma


Input: The main goal of this work is to investigate the killing effects and molecular mechanism of photodynamic therapy (PDT) mediated by the Ad5/F35-APE1 siRNA recombinant adenovirus in combination with a hematoporphrphyrin derivative (HpD) in the A549 human lung adenocarcinoma cell line in vitro to provide a theoretical reference for treating lung cancer by HpD-PDT.

adenovirus


Input: SP1 was detected in 56/100 (56%) samples in levels that correlated with the overall viral load.

viral load


Input: The classical AH8. 1 (HLA-A1-B8-DR3-DQ2) is the most common Caucasian haplotype, associated with several autoimmune diseases, immunologic hyperreactivity and rapid progression to the acquired immunodeficiency syndrome.

immunodeficiency syndrome


Input: The mutation pattern was compared with data from sporadic sarcomas recorded in the IARC TP53 somatic mutations database.

sporadic


Input: Renal sodium retention in liver cirrhosis, nephrotic syndrome and hypoxia have been linked to 11beta-HSD2 reduced activity.

liver cirrhosis

liver cirrhosis


Input: Variants near CHRNB3-CHRNA6 are associated with DSM-5 cocaine use disorder: evidence for pleiotropy.

cocaine use

cocaine use


Input: Our results suggest that the PTPN22 polymorphism rs2476601/R620W plays an important role in the genetic risk to GCA.

GCA

GCA


Input: Moreover, B-CLL cells formed podosomes upon adhesion to FN-H89, VCAM-1, or fibronectin; MMP-9 localized to podosomes in a PI3-K-dependent manner and degraded a fibronectin/gelatin matrix.

adhesion


Input: Studies in mice revealed that LTCCs indirectly also contribute to neurological symptoms in Ca2 + channelopathies affecting non-LTCCs, such as Cav2. 1 alpha1 in tottering mice.

channelopathies


Input: Collagen & #8197; I & #8197; and IGF-1 expression was increased, and SIRT1 expression was decreased (0. 67 & #177; 0. 04 vs 1. 05 & #177; 0. 07, P & lt; 0. 001) in TNBS-induced colitis compared with the control group.

colitis

colitis


Input: The recently discovered dendritic cell nuclear protein-1 is the product of a novel candidate gene for major depression.

dendritic cell nuclear protein-1

major depression

dendritic cell nuclear protein-1

major depression


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

asymptomatic


Input: This finding is consistent with the hypothesis that whereas incomplete loss of DOK7 function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype.

fetal akinesia

fetal akinesia


Input: Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene.

RDX

Nonsyndromic Hearing Impairment

RDX

Nonsyndromic Hearing Impairment


Input: BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

familial breast cancer

familial breast cancer


Input: Three of 259 patients (1%) with ARM and 2 of 28 patients (7%) with other maculopathies including 1 of 3 patients with adult-onset foveomacular vitelliform dystrophy and 1 of 5 patients with a bull' s eye maculopathy, but none of the controls, were found to possess amino acid-changing variants in the VMD2 gene.

VMD2 gene

bull' s eye maculopathy


Input: We generated a plasmid using adenovirus to express HRP isoenzyme C (HRPC) with the HCC marker, alpha-fetoprotein (AFP), as the promoter (pAdv-AFP-HRPC).

HCC

adenovirus


Input: These include STARS, a hypertrophy-responsive gene; SNF1-kinase, a potential modulator of ATP levels; and AXUD1, a downstream target of the proapoptotic regulator AXIN1.

hypertrophy


Input: Using a two-stage case-control design, we searched for pairwise interactions between cigarette smoking and alcohol intake respectively with 9 single nucleotide polymorphisms (SNPs) at ERAP1, PTTG1, CSMD1, GJB2, SERPINB8, ZNF816A and TNIP1/ANXA6 that have been associated with risk for psoriasis in 7, 223 subjects.

alcohol intake


Input: CEACAM1 is a known tumor suppressor that regulates apoptosis in colon cells, and its loss is one of the most frequent events in early tumorigenesis of CRC.

tumorigenesis


Input: Valproic acid reduces neuritic plaque formation and improves learning deficits in APP (Swe)/PS1 (A246E) transgenic mice via preventing the prenatal hypoxia-induced down-regulation of neprilysin.

APP

hypoxia


Input: The main purpose of this study was to establish the prognostic value, if any, of terminal transferase (TdT) expression in myeloid leukaemia.

terminal transferase

myeloid leukaemia


Input: Among these, disequilibrium syndrome describes a constellation of findings including non-progressive cerebellar ataxia, mental retardation, and cerebellar hypoplasia following an autosomal recessive pattern of inheritance and can be caused by mutations in the Very Low Density Lipoprotein Receptor (VLDLR).

VLDLR

progressive cerebellar ataxia


Input: The weight of adult mutant mice is approximately half that of littermate controls, and serum IGF-I is reduced.

IGF-I

weight


Input: We systematically investigated the association of 48 SNPS in four vitamin D metabolizing genes [CYP27A1, GC, CYP27B1 and CYP24A1] with serum 25-hydroxyvitamin D [25 (OH) D] and 1, 25-dihydroxyvitamin D [1, 25 (OH) (2) D] levels and the association of these SNPS and an additional 164 SNPS in eight downstream mediators of vitamin D signaling [VDR, RXRA, RXRB, PPAR, NCOA1, NCOA2, NCOA3 and SMAD3] with prostate cancer risk in the 749 incident prostate cancer cases and 781 controls of the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial.

RXRB

prostate cancer


Input: Our results show that aneuploid tumors, EZH2 expression and paxillin expression correlate with more aggressive phenotype of breast cancer.

aneuploid


Input: Among active smokers more than 20 pack-years of smoking was associated with an OR of 1. 34 (95% CI 0. 92-1. 96); more elevated among NAT2 fast acetylators OR 1. 93 (95% CI 1. 01-3. 69) but not elevated among NAT2 slow acetylators.

smoking


Input: Cytogenetic analysis of early passage COX2 transfected MCF7 cells demonstrated significant genomic instability as compared to parental MCF7 cells.

genomic instability


Input: We hypothesized that pulmonary overexpression of prostacyclin synthase may prevent the development of murine lung tumors.

prostacyclin synthase

lung tumors

prostacyclin synthase

lung tumors


Input: We have previously shown the implication of the multifunctional protein SPARC (Secreted protein acidic and rich in cysteine)/osteonectin in insulin resistance but potential effects on beta-cell function have not been assessed.

osteonectin

insulin resistance


Input: In order to assess the role of these genes in sporadic RER + colorectal carcinoma, we have carried out a mutation analysis of MSH2 and MLH1 by two-dimensional (2-D) DNA electrophoresis, including heteroduplexing and separation in a denaturing gradient.

sporadic


Input: First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.

PFKM

phosphofructokinase deficiency

PFKM

phosphofructokinase deficiency


Input: Mutation of zebrafish dihydrolipoamide branched-chain transacylase E2 results in motor dysfunction and models maple syrup urine disease.

dihydrolipoamide branched-chain transacylase

motor dysfunction


Input: By contrast, 7/57 patients with food allergy (12%) and 6/102 subjects with eczema (6%) carried the TLR-4 mutation.

food allergy


Input: ANXA3 was also associated with susceptibility to systemic lupus erythematosus (P = 0. 0040), and B3GNT2 and ARID5B were associated with Graves' disease (P = 3. 5 & #215; 10 (-4) and 2. 9 & #215; 10 (-4), respectively).

systemic lupus erythematosus

systemic lupus erythematosus


Input: A functional single nucleotide polymorphism (SNP) in the 5'-untranslated region of the EGF gene (+ 61 A > G) may influence its expression and contribute to cancer predisposition and aggressiveness.

EGF gene

aggressiveness


Input: For APOE epsilon4 carriers, only wake after sleep onset (WASO) increased in association with lower cognitive function as indicated by the Mini-Mental State Examination (MMSE); for non-epsilon4 subjects, increases in WASO and declines in total sleep time, sleep efficiency, and the amplitude of the rest/activity circadian rhythm over time were associated with lower performance on the MMSE.

APOE

circadian rhythm


Input: Moreover, metabolite of HO-1, carbon monoxide (CO), also diminished ROS formation and EV71 replication which were reversed by pretreatment with a CO scavenger (hemoglobin) and a cyclic GMP-dependent protein kinase (PKG) inhibitor (KT5823).

PKG

hemoglobin


Input: HBZ-Tg mice were more vulnerable to both infections than non-Tg mice.

HBZ

infections


Input: TTV DNA was detected in 11 of 40 patients (27. 5%) with non-B, non-C chronic hepatitis, 13 of 46 patients (28. 3%) with type B chronic hepatitis, 21 of 55 patients (38. 2%) with type C chronic hepatitis, and 41 of 131 subjects (31. 3%) with normal liver function tests.

TTV

chronic hepatitis


Input: 85 pediatric-and 117 adult-onset CD patients were tested for the three main NOD2 CD-associated variants (p. R702W, p. G908R and p. 10007fs) and clinical data of at least two years of follow-up were compared regarding disease behaviour and activity, response to therapy and bone mineral density (BMD).

bone mineral density


Input: Reduced or absent NF1 gene expression was documented in 7 of these 20 tumors (35%) including 1 of 4 sporadic tumors, 3 of 10 tumors from patients with multiple endocrine neoplasia (MEN) 2A, 2 of 4 tumors from patients with MEN2B, and 1 of 2 tumors from patients with von Hippel-Lindau syndrome.

NF1 gene

sporadic


Input: Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.

chromosome translocation


Input: In this study, we found that crizotinib induces apoptosis in colon cancer cells through the BH3-only protein PUMA.

BH3-only protein

colon cancer


Input: As such, PLA2G5 tipped the immune balance toward an M2 state, thereby counteracting adipose tissue inflammation, insulin resistance, hyperlipidemia, and obesity.

inflammation


Input: Western-blot was used to detect the expression of AQP4 in the border of the infarct region.

infarct


Input: Examining a pathophysiological role of SgII in the initial phase of post-infarction HF, the SgII fragment secretoneurin reduced myocardial ischemia-reperfusion injury and cardiomyocyte apoptosis by 30% and rapidly increased cardiomyocyte Erk1/2 and Stat3 phosphorylation.

infarction


Input: We assessed whether TNF gene polymorphism and plasma concentrations of TNF-alpha were related to the occurrence of ASP and septic shock from it.

ASP

septic shock


Input: Musashi1 (Msi1) is an evolutionarily conserved RNA-binding protein (RBP) that has profound implications in cellular processes such as stem cell maintenance, nervous system development, and tumorigenesis.

RBP

tumorigenesis


Input: RTT is usually associated with normal development in infancy followed by loss of acquired skills and evolution of characteristic hand wringing movements and episodes of hyperventilation. A panel of 25 female and 22 male patients with a clinical diagnosis of AS and no molecular abnormality of 15q11-13 were screened for MECP2 mutations and these were identified in four females and one male.

RTT

RTT


Input: Here, we report the identification of five rare de novo missense variants in DDX6 in probands presenting with intellectual disability, developmental delay, and similar dysmorphic features including telecanthus, epicanthus, arched eyebrows, and low-set ears.

developmental delay

developmental delay


Input: The present study examined the regulation of the major antiapoptotic (Bcl-2, Bcl-xl) and proapoptotic (Bax) genes by repeated unpredictable stress (an animal model of depression) and antidepressant treatments (ADT).

depression

depression


Input: Initial adhesion activates NF-kappaB, which led to IL-1 production.

NF-kappaB

adhesion


Input: The 5-HT1D alpha receptor was found to be expressed in two human glioma cell lines but not in normal astrocytes.

glioma


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

DBP

systolic blood pressure


Input: In univariate analysis ACE DD genotype significantly linked to grades IV and V reflux (p = 0. 007) rather than renal parenchymal damage (p = 0. 284).

ACE

reflux


Input: We hypothesized that the pattern of SFRP2 methylation may differ throughout the promoter during progressive tumorigenesis.

tumorigenesis


Input: Our study does not support a major contribution of the HCRTR2 G1246A polymorphism to the pathogenesis of migraine in contrast to its effects in cluster headache.

migraine


Input: The promising therapeutic targets for osteosarcoma patients include: integrin, ezrin, statin, NOTCH/HES1, matrix metalloproteinases (MMPs), m-calpain, and Src, which are involved in tumor cell invasion and metastasis; aldolase A, fructose-bisphosphate, sulfotransferase family 3A, member 1, BCL2-associated athanogene 3, heat shock protein 70 (HSP70), B-cell lymphoma 2-interacting mediator (BIM), polo-like kinase 1, hypoxia inducible factor 1, alpha subunit, minibrain-related kinase, Bcl-xl, caspase-3, midkine, high mobility group box 1 protein (HMGB1), and Beclin1, which are involved in tumor proliferation and apoptosis; met proto-oncogene (hepatocyte growth factor receptor), v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, insulin-like growth factor (IGF)-1R, fms-related tyrosine kinase 4, platelet-derived growth factor receptor, beta polypeptide, IGF-I/II, and c-kit, which are involved in tumor growth; endosialin, VEGF, thrombin, and MMPs, which are involved in tumor angiogenesis; transforming growth factor-α/β, parathyroid hormone-like hormone, interleukin-6, interleukin-11, receptor activator of nuclear factor-κB ligand, nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1, and cathepsin, which are involved in osteoclast function; Myc, HSP90, p-Met, p-Akt, p-STAT3, and cyclin D1, which are transcriptional factors; p-GP, hydroxysteroid (17-beta) dehydrogenase 10, HMGB1, BIM, inorganic phosphate, Bcl-2, PARP, mdm2, p21, Bax, and mitogen-activated protein kinase 1, which are involved in drug sensitivity.

minibrain-related kinase

tumor angiogenesis


Input: USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction.

vestibular dysfunction


Input: Our observations suggest that MLH1 is mutated more frequently than MSH2 in sporadic colorectal cancers with microsatellite instability.

sporadic


Input: WT showed increased expression of beta-MHC and ANF mRNAs in the hearts 1 day after Dox treatment; this expression peaked at 3 days, suggesting that the WT suffered from congestive heart failure.

ANF

congestive heart failure


Input: Thus HME is probably a genetically mosaic disease caused by gain of function in phosphatidylinositol 3-kinase (PI3K)-AKT3-mTOR signaling.

HME

HME


Input: We randomly assigned 418 previously untreated patients who had metastatic melanoma without a BRAF mutation to receive nivolumab (at a dose of 3 mg per kilogram of body weight every 2 weeks and dacarbazine-matched placebo every 3 weeks) or dacarbazine (at a dose of 1000 mg per square meter of body-surface area every 3 weeks and nivolumab-matched placebo every 2 weeks).

BRAF

body weight


Input: Reexpression of either of two of the silenced genes, HOXB13 and SYK, resulted in reduced colony formation in vitro and diminished tumor formation in vivo, indicating that these genes function as tumor suppressors in melanoma.

melanoma

melanoma


Input: Our data also demonstrate that, among infertile men with varicocele, severely oligozoospermic and OAT men with varicocele have higher incidences of genetic defects than mildly oligozoospermic and azoospermic men.

OAT

infertile


Input: Our aim was to investigate whether and at what stage hypermethylation of the tachykinin-1 (TAC1) gene is associated with human esophageal neoplastic transformation.

esophageal


Input: The most sensitive sites where application of SP into the NTS evoked dose-dependent hypotension and bradycardia were at the level of the posterior tip of the area postrema (zero level) and at the level of the obex.

SP

hypotension

SP

hypotension


Input: A total of 96 sporadic serous tumors including 25 SBTs (11 atypical proliferative serous tumors and 14 intraepithelial low-grade serous carcinomas [noninvasive micropapillary serous carcinomas, MPSCs]), 12 low-grade serous carcinomas (invasive MPSCs), and 59 high-grade serous carcinomas were analyzed for their p53 mutational status of exons 5 to 9.

sporadic


Input: We identified 5 novel de novo missense mutations in CALM2 in 3 subjects with LQTS (p. N98S, p. N98I, p. D134H) and 2 subjects with clinical features of both LQTS and CPVT (p. D132E, p. Q136P).

CPVT

CPVT


Input: The ability of simultaneously enforced expression of COP1 and constitutively active GSK3β to decrease c-Jun abundance in invasive breast cancer cells allowed us to conclude that c-Jun is negatively regulated through the coordinated action of COP1 and GSK3β.

c-Jun

invasive breast cancer


Input: MPI and coronary angiography revealed that 15 patients had chest pain with true ischemia and reversible myocardial perfusion defects (multiple and mild) but normal epicardial coronary arteries (microvascular angina), while 15 patients had significant coronary artery disease (CAD), and 20 hypertensive patients showed normal perfusion scan and coronary angiography.

MPI

chest pain


Input: : The TOP-PUMA adenovirus inhibited AGS cell growth in a dose-and time-dependent fashion.

TOP

adenovirus


Input: NGA can prevent SiO2-induced macrophage activation and apoptosis via HMGB1 inhibition and SiO2-induced fibrosis via the MCPIP1 pathway.

fibrosis


Input: These results are promising, because they are relevant to developing a novel IL-27-based strategy that can treat both the tumor and the bone, by using this simple and effective sonodelivery method for treating prostate tumor bone metastases.

prostate tumor

prostate tumor


Input: These findings suggest that the LRMP V141L polymorphism can predict survival in lung ADCA and that the role of LRMP and CASC1 in human lung cancer risk may differ from that in mice.

ADCA

lung cancer


Input: We propose that sigma-2/PGRMC1 is a key mediator of the pathological effects of Abeta oligomers in AD and is a tractable target for small molecule disease-modifying therapeutics.

AD

AD


Input: SCD patients show higher level expression of both EKLF and PlGF mRNA in circulating blood cells, and markers of iron overload are associated with high PlGF and early mortality.

EKLF

iron overload


Input: Polymorphisms at the glutathione S-transferase, GSTP1 locus: a novel mechanism for susceptibility and development of atopic airway inflammation.

inflammation


Input: Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers.

sporadic


Input: An opposite effect was observed in the hippocampus, where CFA down-regulated NK-1 receptor and BDNF gene expression, phenomena previously observed in immobilization models of stress and depression.

NK-1 receptor

depression

NK-1 receptor

depression


Input: These findings confirm the neoplastic nature of a subset IMT with ALK abnormalities and suggest that aneuploid IMT is a subset with more aggressive clinical behavior.

ALK

aneuploid


Input: To the best of our knowledge, this is the first report verifying the causality between COACH syndrome and TMEM67, which will further our understanding of molecular pathogenesis of the syndrome.

COACH syndrome

COACH syndrome


Input: Mutations in the NF2 gene were found in both sporadic meningiomas and vestibular schwannomas.

NF2 gene

sporadic


Input: The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia of corpus callosum, enlargement of septum pellicidum, and diffuse hypodensity of the grey matter, flat face, hypertelorism, cleft lip and cleft palate, low-set, posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies.

MRI

brachycephaly


Input: Top-ranked endophenotypes included the Beck Depression Inventory, bilateral ventral diencephalon volume, and expression levels of the RNF123 transcript.

Depression

Depression


Input: Interleukin-1 beta has potent OAF activity, can increase the expression of adhesion molecules, and can induce paracrine IL-6 production (see Fig.

OAF

adhesion


Input: Mutations of the RET-GDNF signaling pathway in Ondine' s curse.

RET

Ondine' s curse

RET

Ondine' s curse


Input: In addition, mutations in the Synaptotagmin 2 C2B domain represent an important cause of presynaptic congenital myasthenic syndromes and link them with hereditary motor axonopathies.

Synaptotagmin 2

presynaptic congenital myasthenic syndromes

Synaptotagmin 2

presynaptic congenital myasthenic syndromes


Input: We generated transgenic mice that express a chimeric membrane protein consisting of hen egg lysozyme and a hemoglobin epitope tag under the control of the Clara cell secretory protein promoter, which largely limited transgene expression to the respiratory bronchioles.

Clara cell secretory protein

hemoglobin


Input: The disparate up-regulation of several genes in adult T-cell leukemia (ATL) versus HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP), seropositive carriers (SPC) and uninfected normals may reflect events at the molecular level related to leukemogenesis or to processes maintaining the heme-oncologic phenotype.

SPC

tropical spastic paraparesis


Input: Here we characterized TGF-beta3 signaling and the expression patterns of the critical extracellular matrix component versican in leiomyoma and myometrial tissue and cell culture.

leiomyoma


Input: The ratios of CTLA-4 (+)/CD28 (+) in miscarriage were significantly lower than that of the normal pregnancy both in the peripheral and in deciduas.

miscarriage


Input: MRI best demonstrated the cerebellar lesion, revealing great uniformity amongst the cases.

MRI

cerebellar lesion


Input: Steroidogenic acute regulatory protein (StAR) and the intramitochondrial translocation of cholesterol.

Steroidogenic acute regulatory protein

translocation


Input: Amyloid precursor-like protein 2 (APLP2) has recently been implicated in the survival of cancer cells and in our current study, APLP2' s contribution to the survival of Ewing sarcoma cells was examined.

APLP2' s

sarcoma


Input: The functional polymorphism Asn (107) Ile (rs324981, A > T) of the neuropeptide S receptor (NPSR1) gene is involved in the modulation of traits that affect alcohol use.

neuropeptide S

alcohol use


Input: Controls included seven cases of benign panniculitis and seven other peripheral T cell lymphomas involving the skin and subcutaneous tissues: two peripheral T cell lymphomas, not otherwise specified (PTL, NOS), four anaplastic large cell lymphomas (ALCL), one T/NK cell lymphoma.

PTL

lymphomas


Input: Defective epithelial repair in the setting of chronic lung disease has been suggested to contribute to uncontrolled extracellular matrix (ECM) deposition and development of fibrosis.

ECM

fibrosis


Input: Loss of p27Kip1 enhances tumor progression in chronic hepatocyte injury-induced liver tumorigenesis with widely ranging effects on Cdk2 or Cdc2 activation.

tumorigenesis


Input: No effect of MBL2 genotypes on the presence of diarrhoea, granuloma formation, lymphadenopathy, splenomegaly, frequency of respiratory tract infection or the number of antibiotic courses of the patients was observed.

lymphadenopathy


Input: The mRNA expression level of an epigenetically regulated schizophrenia candidate gene GAD67 was strongly and negatively correlated with the mRNA expression levels of HDAC1, HDAC3 and HDAC4 levels.

schizophrenia

schizophrenia


Input: The aim of this study was to analyse 99 HYP families for PEX gene mutations, and to correlate predicted changes in the protein structure with Zn2 + metallopeptidase gene function.

PEX

HYP

PEX

HYP


Input: Our patient, carrying a partial deletion of the DGCR2 region and of the HDR1 region, including the GATA3 gene, showed, unexpectedly, only few of the clinical features of DiGeorge 2 syndrome (psychomotor retardation, palpebral ptosis, epicanthic folds, anteverted nares, cryptorchidism, hand/foot abnormalities) and did not show other typical signs, such as cardiac defect, cleft palate, and abnormal T cell levels.

cryptorchidism


Input: Ghrelin did not modify body weight or serum glucose, leptin or adiponectin, but increased total ghrelin (P < 0. 05), IGF-I (P < 0. 01) and prolactin (P < 0. 01) levels.

IGF-I

body weight


Input: Role of thymidine phosphorylase and orotate phosphoribosyltransferase mRNA expression and its ratio to dihydropyrimidine dehydrogenase in the prognosis and clinicopathological features of patients with pancreatic cancer.

thymidine phosphorylase

pancreatic cancer

thymidine phosphorylase

pancreatic cancer


Input: Other important chemotherapy-related cardiac toxicities discussed include fluorouracil-induced angina and arrhythmias, interleukin-4 induced-cardiomyopathy, and cardiotoxicity associated with autologous bone marrow transplantation procedures.

cardiomyopathy

cardiomyopathy


Input: Non-CpG G: C > A: T transitions in the 35 codons are rare in familial cancers (p53, BRCA1, or BRCA2-related), but frequent in sporadic cancers in organs where Li-Fraumeni-related carcinogenesis is common e. g.

sporadic


Input: In this paper, we report two children with novel homozygous missense mutations in the GDF5 gene associated with brachydactyly type C: one mutation was within the region coding for the prodomain (c. 608C & #8201; & gt; & #8201; A, which predicts p. Thr203Asn) and the other was within the region coding for the active domain (c. 1456 G & #8201; & gt; & #8201; A, which predicts p. Val486Met).

brachydactyly type C

brachydactyly type C


Input: Most of the melanoma markers used today are melanocytic markers or pigmentation pathway-associated genes driven by the microphthalmia transcription factor, MITF, and include among others, tyrosinase, dopachrome tautomerase, DCT, melan-A and S100B.

DCT

pigmentation


Input: It was also observed that the expressions of putative ovarian cancer stem cell markers, CD133 and CD44 were induced under hypoxia.

hypoxia


Input: While head injury alone was not associated with PD risk, our data suggest head injury may initiate and/or accelerate neurodegeneration when levels of synuclein are high, as in those with Rep1 expansion.

neurodegeneration


Input: Inhibition of MYD88 signaling reduced IκBα and NF-κB p65 phosphorylation, as well as NF-κB nuclear staining, in Waldenström' s macroglobulinemia cells expressing MYD88 L265P.

NF-κB

macroglobulinemia


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

tumor metastasis

tumor metastasis


Input: A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.

GPIX

Bernard-Soulier syndrome

GPIX

Bernard-Soulier syndrome


Input: A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.

calcium-sensing receptor

autosomal dominant hypocalcemia

calcium-sensing receptor

autosomal dominant hypocalcemia


Input: The exaggerated response of HRC knockout mice to the induction of cardiac hypertrophy is consistent with a regulatory role for HRCBP in calcium handling in vivo and suggests that mutations in HRC, in combination with other genetic or environmental factors, might contribute to pathological hypertrophy and heart failure.

HRC

hypertrophy


Input: Thus, we show that GIT2 is an essential terminator of TLR signaling and that loss of GIT2 leads to uncontrolled inflammation and severe organ damage.

inflammation


Input: Mutations in the coding areas of the WNT10B gene, which is co-expressed with WNT10A during odontogenesis, and the WNT6 gene which is located at the same chromosomal locus as WNT10A in humans, do not contribute to the tooth agenesis phenotype.

WNT6 gene

tooth agenesis


Input: We report that missense mutations in ZBTB20, residing within the 3q13. 31 microdeletion syndrome critical region, underlie Primrose syndrome.

Primrose syndrome

Primrose syndrome


Input: We studied the gene expression by quantitative reverse transcription polymerase chain reaction of TNFSF11 (RANKL), TNFSF11A (RANK), TNFRSF11B (OPG), CCL3 (MIP1A), CCL4 (MIP1B), PTHR1 (PTHrp), DKK1, CKS2, PSME2 and DHFR in purified, immunophenotypic FACS-sorted plasma cells from 171 newly diagnosed MM patients, 20 patients with monoclonal gammopathy of undetermined significance and 12 controls.

monoclonal gammopathy of undetermined significance


Input: The complex has been proposed to be involved in two heritable human diseases: combined deficiency of vitamin-K-dependent clotting factors type 2 (VKCFD2; Online Mendelian Inheritance in Man (OMIM) 607473), and resistance to coumarin-type anticoagulant drugs (warfarin resistance, WR; OMIM 122700).

warfarin resistance

warfarin resistance


Input: Poly (ADP-ribose) polymerases (PARPs) modify target proteins post-translationally with poly (ADP-ribose) (PAR) or mono (ADP-ribose) (MAR) using NAD (+) as substrate.

PAR

mono


Input: Both presented with recurrent otitis media and sinopulmonary infections, CD4 + T cell lymphopenia, and defective DCH skin test responses to recall T cell antigens.

recurrent otitis media


Input: We chose the insulinoma model, a paradigmatic example of well-differentiated pancreatic NETs, to study whether MENIN interferes with the expression of v-MAF musculoaponeurotic fibrosarcoma oncogene homologue A (MAFA), a master glucose-dependent transcription factor in differentiated β-cells.

MAF

insulinoma


Input: Involvement of MMP-9, uPAR and cathepsin B in adhesion, migration, invasion, proliferation, metastasis and tumor growth has been well established.

cathepsin B

adhesion


Input: There was no association between PON1 Q192R and either self-report of pregnancy-induced hypertension or gestational hyperglycaemia but the prevalence of reporting having a preterm birth increased with each R allele: per allele odds ratio 1. 20 [95% confidence interval (CI) 1. 03, 1. 41].

preterm birth


Input: Physical inactivity, large body mass index, cigarette smoking, using aspirin/nonsteroidal anti-inflammatory drugs, and other dietary factors appeared to be comparably associated with colon cancer in those with and without p53 mutations.

body mass index


Input: We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle' s disease.

myophosphorylase

McArdle' s disease

myophosphorylase

McArdle' s disease


Input: The results of this study, combined with those of previous studies, suggest that factor VII may be a useful additional marker of the risk for ischemic heart disease and merits further investigation.

factor VII

ischemic heart disease


Input: One single nucleotide polymorphism (SNP) in the gene encoding P53 (Arg72Pro, RS1042522), one dinucleotide polymorphism (G4C14-to-A4T14, RS 2273953, RS1801173) in the gene encoding P73, and two further SNPs in the same gene (-386 G/A, RS3765728; exon 5 T/C, RS1801174) were studied to determine whether DNA variations could influence the occurrence of the disease in a sample of Italian subjects with the sporadic late-onset form of AD.

sporadic


Input: The resultant cancers share several features and differences with lung cancers containing sporadic EGFR mutations.

EGFR

sporadic


Input: Recent work has shown that orthostatic intolerance is influenced by endothelial nitric oxide synthase gene polymorphisms.

endothelial nitric oxide synthase

orthostatic intolerance


Input: The mRNA expression level of an epigenetically regulated schizophrenia candidate gene GAD67 was strongly and negatively correlated with the mRNA expression levels of HDAC1, HDAC3 and HDAC4 levels.

schizophrenia

schizophrenia


Input: Finally, we showed that eye-specific expression of APP induced retina degeneration and cell cycle re-entry, both phenotypes were mildly ameliorated by loss of Polo.

APP

retina degeneration


Input: Mutations in the genes encoding subunit polypeptides of the alpha 6 beta 4 integrin (ITGA6 and ITGB4) have been demonstrated in EB-PA patients.

EB-PA

EB-PA


Input: Mutations in dysferlin result in limb girdle muscular dystrophy type 2B and Miyoshi myopathy.

dysferlin

limb girdle muscular dystrophy type 2B

dysferlin

limb girdle muscular dystrophy type 2B


Input: NAT2 fast acetylator genotype is associated with an increased risk of lung cancer among never-smoking women in Taiwan.

smoking


Input: In contrast to previous phenotyping studies, no relationship was found between NAT2 polymorphism and NIDDM or its complications such as nephropathy or neuropathy.

nephropathy


Input: Tolerance to autoimmune thyroiditis: (CD4 +) CD25 + regulatory T cells influence susceptibility but do not supersede MHC class II restriction.

thyroiditis


Input: KCNT1 mutations were identified in two additional families and a sporadic case with severe ADNFLE and psychiatric features.

ADNFLE

ADNFLE


Input: AAT S or Z polymorphisms are present in 25% of persons with anxiety disorder and 42% of persons with bipolar disorder compared to 10% of control group without pre-existing affective disorder.

AAT

bipolar disorder

AAT

bipolar disorder


Input: The study included five Hispanic women, one with HAD, two HIV-1-infected without cognitive impairment, and two seronegative controls.

HAD

cognitive impairment


Input: These observations indicate that NIK regulates proinflammatory responses of renal proximal tubular epithelial cells via mechanisms involving TRAF3 and suggest a role for NF-κB noncanonical pathway activation in modulating diabetes-induced inflammation in renal tubular epithelium.

diabetes


Input: TRO activates two parallel pathways: I] EGFR/MEK1/2/ERK1/2 and II] NHE1 inhibition/cellular acidosis.

acidosis


Input: The observation of excess NMS in a 26-weeks'-gestation stillborn prompted us to screen the HRAS gene for mutation.

HRAS gene

stillborn


Input: Clear cell sarcoma (CCS) typically presents as a tumor in the deep soft tissue of extremities, but when centered in the dermis it may be confused with a melanocytic nevus, primary nodular or metastatic melanoma.

CCS

melanocytic nevus


Input: In a California population-based case-control study, we genotyped 421 infants born with an isolated cleft and 299 nonmal-formed controls for 2 NAT1 and 3 NAT2 single nucleotide polymorphisms Although smoking was independently associated with increased risks for both isolated cleft lip +/-cleft palate and isolated cleft palate, no independent associations were found for NAT1 1088 or 1095 genotypes or for NAT2 acetylator status.]

smoking


Input: In the Caucasian population, patients affected by the most frequent forms of congenital muscular dystrophies (MDC) are commonly divided into two groups.

MDC

muscular dystrophies


Input: Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.

autosomal dominant macrothrombocytopenia with leukocyte inclusions

autosomal dominant macrothrombocytopenia with leukocyte inclusions


Input: Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

ATM

Ataxia-telangiectasia

ATM

Ataxia-telangiectasia


Input: Stromal cell-derived factor 1 alpha (SDF-1alpha) and its receptor CXCR4 play important roles in the pathogenesis of human immunodeficiency virus type one (HIV-1)-associated dementia (HAD) by serving as a HIV-1 co-receptor and affecting cell migration, virus-mediated neurotoxicity, and neurodegeneration.

HAD

neurodegeneration


Input: In obesity, reduction of adipose EFNB1 may accelerate the vicious cycle involved in adipose tissue inflammation.

obesity

obesity


Input: [] described a VDEGS patient with sclerocornea and cataracts with compound heterozygosity for the common 22q11. 2 microdeletion and a hemizygous SCARF2 mutation.

cataracts


Input: Genes expressed more abundantly in R + cells are associated with (1) tumour growth and metastasis including, betaigH3, mts1, igfbp5 protease, and mystique; (2) cell division, including cyclin A1 and cdk1; (3) signal transduction, including pkcdeltabp and lmw-ptp; and (4) metabolism including ATPase H + transporter and ferritin.

ptp


Input: Western blotting and immunohistochemistry of these cells indicated a fall in the expression level of E-cadherin and an increase in fibronectin expression after 48 h. PAR1 activation also induced significant increases in nuclear levels of the Snail which is a repressor of E-cadherin gene expression.

fall


Input: ADNP haploinsufficiency in mice, which results in age-related neuronal death, cognitive and social dysfunction, exhibited reduced hippocampal beclin1 and increased Bcl2 expression (mimicking schizophrenia and normal human aging).

schizophrenia

schizophrenia


Input: The CYP1A1 * 2A polymorphism was found to have significant association with chronic obstructive pneumonopathy (p = 0. 045), peripheral circulatory problems (trend p = 0. 042), arteritis (p = 0. 022), allergies (trend p = 0. 046), hemorrhoids (trend p = 0. 026), allergic dermatitis (p = 0. 0016) and miscarriages (p = 0. 012).

allergies

allergies


Input: COX-2 (PTGS2) gene methylation in epithelial, subepithelial lymphocyte and stromal tissue compartments in a spectrum of esophageal squamous neoplasia.

esophageal


Input: eIF3f: a central regulator of the antagonism atrophy/hypertrophy in skeletal muscle.

atrophy


Input: Human salivary gland adenocarcinoma (SGT) cells were used in this study.

SGT

salivary gland adenocarcinoma


Input: MATERIALS AND METHODS: We have screened 28 familial or sporadic HED cases with no mutations in the EDA and EDAR genes for EDARADD, TRAF6, TAB2 and TAK1 mutations.

EDAR

sporadic


Input: Exon by exon mutation analysis of FUCA1, the structural gene of alpha-l-fucosidase, has identified the mutation (s) in nearly all fucosidosis patients investigated.

fucosidosis

fucosidosis


Input: For the in vivo study, rats harboring 9L brain tumors were inoculated with MSC-EGFP or MSC-CD.

MSC

brain tumors


Input: Recently three novel MPZ gene mutations were reported in congenital hypomyelinating neuropathy (CHN).

CHN

congenital hypomyelinating neuropathy


Input: The use of replication-competent adenovirus deficient of the E1B gene coupled to an AFP-targeting strategy may be a safe and efficacious treatment for HCC.

HCC

adenovirus


Input: We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer' s disease.

beta-amyloid precursor protein

Alzheimer' s disease

beta-amyloid precursor protein

Alzheimer' s disease


Input: Administration of SIS3 also attenuated EMT and invasion of HepG2 and BEL7402 cells during starvation.

EMT

starvation


Input: Inhibition of Icmt significantly decreases the activation of both RhoA and Rac1; an increase in Rho GDP-dissociation inhibitor (RhoGDI) binding in the absence of methylation appears to contribute to this effect.

Icmt

dissociation


Input: Results of this study demonstrate the dependence of insulin-like growth binding proteins as well as IGF2BP3 and HTRA1 gene expressions in U87 glioma cells on ERN1 signaling enzyme function and hypoxia, indicating its participation in the regulation of metabolic and proliferative processes via IGF/INS receptors, because endoplasmic reticulum stress is an important component of tumor growth and metabolic diseases.

HTRA1 gene

hypoxia


Input: Indomethacin reduced PGE2 content in normal and tumor tissue with subsequently decreased IP, HPGD and PPARgamma receptor expression in both tumor and normal colon tissue, while subtype EP1-4 receptors were not significantly influenced by indomethacin treatment.

tumor


Input: In a previous study, several HLA-B and HLA-C alleles and haplotypes were positively or negatively associated with the occurrence and prognosis of glioblastoma multiforme (GBM).

HLA-B

glioblastoma multiforme


Input: The elevated expression of the prolactin receptor in carcinomas concomitant with several components of the mitogenic prolactin signaling pathway implicated prolactin/prolactin receptor/Stat5a/cyclin D1 in rat mammary gland malignancy.

carcinomas

carcinomas


Input: Consequently, UCP gene transfer prevented muscle degeneration and autoamputation of ischemic limb.

UCP

autoamputation


Input: We investigated the phenotype of cells expressing messenger RNA encoding interleukin 4 (IL-4), IL-5, IL-2, and interferon gamma (IFN-gamma) in bronchoalveolar lavage (BAL) and bronchial biopsies (BX) from seven mild atopic asthmatic patients and nine nonasthmatic controls.

mild


Input: We found no evidence of dual infections with HTLV-II among the seropositive asymptomatic persons or in patients with either ATL or HAM/TSP.

TSP

infections


Input: We determined the KIT and PDGFRA mutation status of 1, 105 unique GISTs using a combination of denaturing high-performance liquid chromatography and direct sequencing.

PDGFRA

GIST

PDGFRA

GIST


Input: Adenosine deaminase did not influence the control coronary flow, but significantly reduced autoregulation, hypoxic vasodilation, reactive hyperemia and functional adrenaline-induced hyperemia.

Adenosine deaminase

hyperemia

Adenosine deaminase

hyperemia


Input: In a South African LQT1 founder population segregating KCNQ1-A341V, we correlated major cardiac events to resting heart rate (HR) and to baroreflex sensitivity (BRS) on and off beta-adrenergic blockers (BB).

heart rate


Input: Underexpression and overexpression of Mthfr/MTHFR increase MTX-induced myelosuppression but have distinct effects on plasma homocysteine and nephrotoxicity.

MTX

myelosuppression


Input: Regenerating bile ductules at the interface of portal tracts and necrotic areas stained intensely for MDR1, MRP1, and MRP3.

necrotic


Input: We show that RKIP inhibits let-7 targets (HMGA2, BACH1) that in turn upregulate bone metastasis genes (MMP1, OPN, CXCR4).

RKIP

bone metastasis


Input: Giant axonal neuropathy (GAN; MIM 256850) is a severe childhood onset autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system.

MIM

childhood onset


Input: These observations suggest a protective role of the high activity ACP1 phenotypes against seizures in children.

seizures


Input: To observe the therapeutic effects of coexpression of Smad7 and uPA genes, the recombinant adenovirus were delivered into CCL4-induced fibrosis models.

adenovirus


Input: Hence, HADH/ERAB was suggested to mediate the amyloid-induced neurodegeneration.

HADH

neurodegeneration


Input: We studied the MLH1 and MSH2 promoter methylation status in 29 presumably sporadic uterine endometrioid carcinomas (UECs), which had previously been characterized for the MSI phenotype and a subset for DNA MMR gene mutational status.

sporadic


Input: Functional characterization of two novel mutations in TTF-1/NKX2. 1 homeodomain in patients with benign hereditary chorea.

benign hereditary chorea

benign hereditary chorea


Input: Caffeine and halothane sensitivity of intracellular Ca2 + release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease.

malignant hyperthermia


Input: EWSR1-CREB1 is a novel translocation recently described in clear cell sarcoma of the GI tract.

translocation


Input: Phagocytosis of glioma cells by activated microglia was dependent on Siglec-h and its adapter molecule DAP12.

glioma


Input: The ratios of the consumed coagulation factors: FVIII of (86. 1 +/-1. 8)%, fibrinogen of (89. 6 +/-0. 6)%, vWF (55 +/-1. 4)%, TF (62 +/-2. 5)%.

FVIII

fibrinogen


Input: However, the serum concentration of PEDF, as measured by enzyme-linked immunosorbent assay, was decreased in patients with cirrhosis or HCC complicated by cirrhosis compared to healthy volunteers and patients with chronic hepatitis.

HCC

chronic hepatitis


Input: Because recent genome-wide association (GWA) studies have linked a region of the 3'-UTR of IKZF1 with C-ALL susceptibility, we tested whether IKZF1 is associated with the autoimmune disease type 1 diabetes.

UTR

autoimmune disease


Input: Treatment of LX-2 cells with TRAIL decreased the active trimer formation of HSF1, increased the dephosphorylation of HSF1 (Ser (230)), and enhanced the translocation of HSF1 into cytosol.

translocation


Input: Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS.

SKI

SGS

SKI

SGS


Input: After serum shock, both types of cells showed clear circadian expressions of Bmal1, Cry1, Cry2, Per1, Per2, Per3 and Rev-erbα mRNA; meanwhile the Clock mRNA show a rhythmic expression in plaque-derived SMCs but not in normal carotid VSMCs.

shock


Input: LDL-added platelets showed increased p38MAPK (+ 59%) and PKC (+ 51%) phosphorylation, p47 (phox) translocation to platelet membrane (+ 34%) and NOX2 activation (+ 30%), which were inhibited by ox-LDL receptor antagonists.

translocation


Input: As a positional candidate we investigated SLC30A4 in the chromosome 15q15-linked schizophrenic phenotype periodic catatonia (MIM 605419), by means of a systematic mutation screening in affected individuals from exceptionally large pedigrees with perfect co-segregation of a chromosomal segment between marker D15S1042 and D15S659 in all affected individuals.

MIM

periodic catatonia


Input: These findings suggest that platelet aggregation and adhesion have been delayed in children with IDA; however, platelet function abnormalities are not associated with CD62P expression on platelet surface.

abnormalities


Input: METHODS: APOBEC3G variants were detected using real-time polymerase chain reaction in HIV-1-infected children from Pediatric AIDS Clinical Trials Group (PACTG) protocols P152 and P300 that evaluated the effectiveness of 3 mono-or dual-nucleoside reverse transcriptase inhibitor treatments.

mono


Input: To comprehend the role of pyridoxal 5'-phosphate (PLP) in epilepsy or seizure, we investigated whether the expressions of two PLP synthetic enzymes (pyridoxal kinase, PLK; pyridoxine-5'-phosphate oxidase, PNPO) are altered in the hippocampus and whether changes in paired-pulse responses in the hippocampus are associated with altered PLP synthetic enzyme expressions following status epilepticus (SE).

PLK

epilepsy


Input: The PTB patients were categorized on the basis of their bacillary load as 3 +, 2 +, 1 +, negative and on the extent of lung involvement as having minimal, moderate, and far-advanced lung disease.

PTB

lung disease


Input: The absence of MyD88, but not combined blockade of IL-1β and IL-18 signaling, resulted in greater infectivity, as reflected by levels of RV in feces, intestinal lysates and viremia.

viremia