Input: Pain threshold changes in rats following central injection of beta-endorphin, met-enkephalin, vasopressin or oxytocin antisera.

beta-endorphin

Pain

beta-endorphin

Pain


Input: Pin1 interacts with neuronal cytoskeletal proteins such as tau, amyloid-beta protein precursor, alpha-synuclein, and neurofilaments, often in association with phosphorylation events that influence their functions in the neuronal cytoskeleton.

amyloid


Input: In the present study, we found that CX3CR1 expression was significantly increased in androgen-independent prostate cancer cells, including DU145, PC-3 and PC-3M, following exposure to hypoxia.

hypoxia


Input: An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.

natriuretic peptide receptor 2

overgrowth


Input: Of these 11 tumors, 81. 8% lacked expression of MSH2 on IHC, compared with the matched sporadic cases, which all displayed normal expression of MSH2 and MLH1.

sporadic


Input: We initially performed DNA sequencing in 45 patients with isolated lissencephaly with a p > a gradient, in whom FISH had revealed normal results.

FISH

lissencephaly


Input: A statistically sixfold lower expression of Rasgrf2 was detected in carcinomas whereas no significant change in Ccnb1 expression was observed.

carcinomas

carcinomas


Input: TRAIL-or DR5-deficient mice were relatively resistant to common bile duct ligation-induced cholestasis, and common bile duct ligation augmented DR5 expression on cholangiocytes, sensitizing mice to DR5-mediated cholangitis.

cholestasis


Input: By using ultrasound, we studied the sizes (absolute and corrected by height, weight and BSA) of the intra-abdominal organs of 18 adult subjects with IGHD (eight females, IGHD group) who have never received GH replacement therapy.

IGHD

weight


Input: Body mass index (BMI), waist to hip ratio (WHR), systolic blood pressure (SBP), diastolic blood pressure (DBP), serum uric acid, urea nitrogen, creatinine, triglyceride, total cholesterol, low-density lipoprotein-cholesterol (LDL-C), high-density lipoprotein-cholesterol (HDL-C) and fasting plasma glucose (FPG) were determined.

DBP

systolic blood pressure


Input: Also, upregulation of the phosphatidylinositol 3-kinase (PI3K)/Akt-signaling pathway is known to play an important role in drug resistance, and has been implicated in the aggressiveness of a number of different cancers, including T-acute lymphoblastic leukemia (T-ALL).

aggressiveness


Input: The aim of the study was to investigate the association of 3' untranslated region (UTR) single-nucleotide polymorphisms (SNPs) in the FGF-21 gene with MetS, obesity, and diabetes in the Han Chinese population.

UTR

diabetes


Input: Some sporadic tumors do show LOH of BRCA1 and BRCA2.

sporadic


Input: The IGF-IR level was lower in gastrinomas of patients who were rendered disease free and increased levels correlated with tumor growth, aggressiveness, extent, and with liver metastases.

IGF

aggressiveness


Input: The deletion of LMX1B is responsible for the knee anomalies and the deletion of NR5A1 likely causes the sex reversal.

sex reversal


Input: These results expand the phenotypic spectrum associated with PAX2 mutations, which have been shown to lead to congenital abnormalities of the kidney and urinary tract as part of papillorenal syndrome.

papillorenal syndrome

papillorenal syndrome


Input: The HMBS mutations in AIP family members were studied by PCR-SSCP followed by direct sequencing.

HMBS

AIP

HMBS

AIP


Input: To date, 12 cases of heterozygous Ser72Leu mutations in the peripheral myelin protein 22 have been reported in patients suffering from severe demyelinating form of Charcot-Marie-Tooth disease (CMT1) and congenital hypomyelinating neuropathy (CHN) [MIM #605253].

CHN

congenital hypomyelinating neuropathy


Input: Mutation analyses were expanded to three other different paired cell lines, DLD-1 and RDLD-1 (colon cancer cell line), MKN-28 and RMKN-28 (gastric cancer cell line), and TFK-1 and RTFK-1 (cholangiocarcinoma cell line).

DLD

cholangiocarcinoma


Input: The NAT2 * 6A/any slow acetylation genotype may be a predisposing factor for pancreatic cancer among diabetics with smoking exposure.

smoking


Input: Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.

hirschsprung disease

hirschsprung disease


Input: In addition, we tested a subset of treatment regimens in three breast cancer models representing distinct breast cancer subtypes: claudin-low (T11 OST), basal-like (C3-TAg GEMM), and luminal B (MMTV-Neu GEMM).

breast cancer


Input: The HER2 receptor pathway drives breast cancer growth and aggressiveness, and HER2-targeted agents can improve survival in early and advanced disease.

aggressiveness


Input: The effect of ACE inhibition on coronary angiogenesis was investigated in a rat model of hypertensive heart failure.

ACE

hypertensive heart failure


Input: Loss of either of these functions would be expected to lead to chromosomal instability, which is observed in BRCA1 and BRCA2-associated tumours.

chromosomal instability


Input: Connective tissue growth factor (CTGF), a cytokine of the family of growth regulators comprising sef10, cyr61, CTGF and nov, has recently been described in association with scleroderma and other scarring conditions.

scarring


Input: Later age of disease onset and lower incidence of colorectal cancer may contribute to a lower proportion of identified MSH6 mutations in families suspected of HNPCC.

colorectal cancer

colorectal cancer


Input: It is concluded that L-2-hydroxyglutarate is normally metabolized to alpha-ketoglutarate in mammalian tissues and that L-2-hydroxyglutaric aciduria is caused by mutations in the gene that most likely encodes L-2-hydroxyglutarate dehydrogenase.

L-2-hydroxyglutarate dehydrogenase

L-2-hydroxyglutaric aciduria

L-2-hydroxyglutarate dehydrogenase

L-2-hydroxyglutaric aciduria


Input: In general, our results are similar to previous reports on the value of education, smoking, alcohol consumption, and IL-2 and IL-6 genetic polymorphisms for the prognosis of HNSCC, but the risks due to these variables are small and estimates imprecise.

smoking


Input: We found that a significantly increased risk of cervical cancer was associated with the CC genotype of rs2057482 in the 3 ´-untranslated region (3'-UTR) of HIF-1α (odds ratio (OR), 1. 44; 95% confidence interval (CI), 1. 11-1. 88), compared with the CT/TT genotypes.

UTR

cervical cancer


Input: Focusing on apoptosis, proliferation, hormone and angiogenesis, we found a group of genes such as thioredoxin domain containing 5, tumor necrosis factor receptor superfamily, member 10a, ribosomal protein S19 and Janus kinase 2 upregulated in AI prostate cancer, could play important roles in the transition from AD to AI and could be biomarkers of prognosis.

ribosomal protein S19

prostate cancer

ribosomal protein S19

prostate cancer


Input: Immunoprecipitation and immunofluorescence staining revealed that DSG3 silencing disrupted its interaction with plakoglobin and induced plakoglobin translocation from the cytoplasm to the nucleus.

translocation


Input: p38 activation by both adenovirus-mediated gene delivery of constitutively active p38 activator MKK6 and by arsenite selectively induces cell death in K-ras-activated human colon cancer HCT116 cells but not in the K-ras-disrupted HCT116-derived sublines.

adenovirus


Input: Base-line DBH activities correlated significantly with the level of intoxication for the FHN group (r = 0. 44, p less than 0. 025) with a trend for an inverse correlation with the average drinking history.

DBH

drinking


Input: Using 3' rapid amplification of cDNA ends (3' RACE) experiments, we isolated an ectopic sequence that was fused to HMGIC in a uterine leiomyoma.

RACE

uterine leiomyoma


Input: In mice, deletion of TMPRSS6 in vivo has profound effects on the iron phenotype of hemochromatosis and beta-thalassemia.

beta-thalassemia


Input: GATA-4 protein is abundantly present in Sertoli and Leydig cell tumors, suggesting a relationship to tumorigenesis or tumor progression in somatic cell-derived testicular neoplasms.

GATA

testicular neoplasms


Input: This article reviews the data regarding radiation-associated complications in BRCA1/BRCA2 carriers, then compares the outcomes following breast-conserving surgery and radiotherapy in breast cancer patients with germline mutations and those with sporadic disease.

sporadic


Input: The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN.

PORCN

FDH

PORCN

FDH


Input: The genetic association with positivity for GAD autoantibodies (GADAs), IA2 antigen (IA-2A), zinc transporter 8, thyroid peroxidase, gastric parietal cells (PCAs), tissue transglutaminase, and 21-hydroxylase was tested using a linear mixed-model regression approach to simultaneously control for population structure and family relatedness.

zinc transporter 8

regression


Input: The lowest absolute 10-year risks for venous thromboembolism in factor V Leiden heterozygotes and homozygotes--0. 7% (CI, 0. 5% to 1. 0%) and 3% (CI, 1% to 8%)--were found in nonsmokers younger than 40 years of age with a body mass index below 25 kg/m2; the corresponding highest risks--10% (CI, 7% to 14%) and 51% (CI, 13% to 100%)--were found in smokers older than 60 years of age with a body mass index above 30 kg/m2.

factor V Leiden

body mass index


Input: Here, we describe the use of a CRAd with cancer specific transcriptional control of the essential Ad5 E1A gene using the human CXCR4 gene promoter.

CRAd

cancer


Input: Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).

dHMN-V

dHMN-V


Input: In order to elucidate the significance of both MIN and loss of heterozygosity (LOH) in the pathogenesis of sporadic keratoacanthomas, the presence of MIN and LOH at five loci [chromosome 5q21 (D5S346, APC), 9p21 (D9S171, p16), 10pter (D10S89, Mfd28), 11p (D11S904) and 17p12 (D17S520, p53)] was evaluated.

sporadic


Input: There was no significant (P > 0. 05) difference in global disc area, global neuroretinal rim area, alpha-parapapillary atrophy, beta-parapapillary atrophy, slope of neuroretinal rim, or visible lamina cribrosa morphology between myocilin mutation carriers and patients with nonmyocilin glaucoma.

myocilin

atrophy


Input: The influence of G-protein beta3-subunit gene and endothelial nitric oxide synthase gene in exon 7 polymorphisms on progression of autosomal dominant polycystic kidney disease.

autosomal dominant polycystic kidney disease


Input: Our results suggest that somatic mutation of TP53 plays less of a role in the carcinogenesis of sporadic non-serous tumors than in that of sporadic serous tumors or BRCA1-related tumors.

sporadic


Input: In this study, we demonstrate for the first time the EWSR1-ATF1 translocation in a CCOC and demonstrate a concrete link between CCCs and at least a subset of CCOCs.

translocation


Input: Shp2E76K increased leukemic stem cell frequency and affords MLL-AF9 leukemic cells IL3 cytokine hypersensitivity.

hypersensitivity


Input: In addition, controversies exist about the proportion of tumors with APC mutations in the mutation cluster region (MCR); how commonly APC, Ki-ras, and p53 mutations occur in the same tumor; and whether APC mutations occur in sporadic microsatellite-unstable tumors.

sporadic


Input: We identified a homozygous ATOH7 mutation (N46H) in a large family with an autosomal recessive PHPV disease trait linked to 10q21, and a heterozygous variant (R65G, p. Arg65Gly) in one of five sporadic ONA patients.

PHPV

PHPV


Input: These results confirmed that activation of the KSR1-mediated ERK1/2 signaling pathway may contribute to tumorigenesis, metastasis and chemoresistance of human gastric cancer.

tumorigenesis


Input: These findings suggest transcriptional squelching may be engineered for killing cancer cells, and the SRF gene may represent a novel molecular target for cancer therapeutics.

SRF

cancer

SRF

cancer


Input: Using the developing zebrafish, we established that the cardiac natriuretic peptide genes (nppa and nppb), known markers of cardiomyocyte hypertrophy and heart failure, were induced in the embryonic heart by pathological cardiac stimuli.

nppb

cardiomyocyte hypertrophy


Input: Both MAP2 and Tau elicited severe neuronal dysfunction and neuritic abnormalities, despite the absence of detergent-insoluble aggregates in worm neurons.

abnormalities


Input: Urocortin is a novel cardioprotective agent that can protect cardiac myocytes from the damaging effects of ischemia/reperfusion both in culture and in the intact heart and is effective when given at reperfusion.

Urocortin

ischemia


Input: Finally, the absence of SMAD4 mutations in three MS cases may support genetic heterogeneity.

MS

MS


Input: Both mutations segregate with the disease in these four FMTC families and involve the tyrosine kinase domain of RET.

RET

FMTC

RET

FMTC


Input: Our present findings, combined with data about two previously identified TFAP2B mutations, show that dominant negative effects consistently appear to be involved in the etiology of Char syndrome.

Char syndrome

Char syndrome


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).

ADNP

schizophrenia

ADNP

schizophrenia


Input: Immunologically, we noted hypogammaglobulinemia with terminal B-cell maturation arrest, dendritic cell deficiency, peripheral eosinopenia, increased double-negative (CD4 (-) CD8 (-)) T cells, and decreased natural killer, T helper 17, and regulatory T-cell numbers.

hypogammaglobulinemia


Input: Our preliminary data on pattern of POMC regulation suggests an association with the underweight state rather than with persisting trait markers of AN.

POMC

underweight


Input: RASFs lacking C5orf30 exhibit increased cell migration and invasion in vitro, and gene profiling following C5orf30 inhibition confirmed up-regulation of genes involved in cell migration, adhesion, angiogenesis, and immune and inflammatory pathways.

adhesion


Input: Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

cardiac valvular form of Ehlers-Danlos syndrome

cardiac valvular form of Ehlers-Danlos syndrome


Input: Compared to psoriasis, HCR protein had a different distribution in chronic dermatitis, pityriasis rubra pilaris, mycosis fungoides, and chronic skin ulcers.

HCR

pityriasis rubra pilaris


Input: Somatic mutations in the NF2 gene occur in sporadic tumors, but their relation to tumor behavior is unknown.

NF2 gene

sporadic


Input: Familial LPL deficiency is a rare inborn error of metabolism caused by mutational change within the LPL gene, which leads to massive hypertriglyceridemia.

LPL gene

inborn error of metabolism


Input: DNA methylation changes at a number of these genes have been linked to various forms of human disease, including cancers, such as asthma and acute myeloid leukemia (ALOX12), gastric cancer (EBF3), breast cancer (NAV1), colon cancer and acute lymphoid leukemia (KCNK15), Wilms tumor (protocadherin gene cluster; PCDHAs) and colorectal cancer (TCERG1L), suggesting a potential etiologic role for MEs in tumorigenesis and underscoring the possible developmental origins of these malignancies.

colon cancer


Input: Recently, a polymorphism of single nucleotide polymorphism SNP rs2645424 of farnesyl diphosphate farnesyl transferase 1 (FDFT1) was identified in NAFLD/NASH as a possible causal link to steatosis and fibrosis progression.

fibrosis


Input: Pfeiffer syndrome (PS) (MIM 101600) is one of the most common syndromic forms of craniosynostosis.

MIM

craniosynostosis


Input: Microsatellite markers were used to screen candidate loci including the epidermal differentiation complex on 1q, the desmoplakin locus on 6p, the type I and II keratin gene clusters on chromosomes 12q and 17q, and the desmosomal cadherin gene cluster on chromosome 18q.

desmoplakin

epidermal differentiation complex


Input: Of these, four (Pten, Nmnat1, Slitrk2 and Otx2) were viewed as being crucial in the context of FASDs given their roles in the brain.

FASD

FASD


Input: Although the conjugated peptides were inactive in vivo, an unconjugated retro-inverso analog of the native TSP peptide inhibited breast tumor growth in a mouse xenograft model.

TSP

breast tumor

TSP

breast tumor


Input: Our findings support the hypothesis that RYR1 mutations are associated with King-Denborough syndrome but that further genetic heterogeneity is likely.

King-Denborough syndrome

King-Denborough syndrome


Input: Studies have shown that a two-gene ratio (HOXB13: IL17BR) and a five-gene (BUB1B, CENPA, NEK2, RACGAP1, RRM2) molecular grade index (MGI) are predictive of clinical outcomes among early-stage breast cancer patients.

CENPA

early-stage breast cancer


Input: [Study on expression of cell surface L-selectin and soluble L-selectin in patients with acute leukemia].

L-selectin

acute leukemia


Input: Several genes novel to testicular tumorigenesis were consistently up-or down-regulated, including POV1, MYCL1, MYBL2, MXI1, and DNMT2.

tumorigenesis


Input: In normotensive subjects with a positive family history of hypertension, in contrast to control subjects without such history, hyperinsulinaemia caused a marked decrease in urinary sodium excretion in presence of unchanged RPF and GFR indicating a renal tubular effect of insulin located at distal site of the renal tubules.

GFR

hyperinsulinaemia


Input: Taken together, we propose that during the process of metastasis, cancer cells experience changes in cell morphology, resulting in the increased production and secretion of GDF15 into the surrounding environment.

metastasis

metastasis


Input: Absence of αB crystallin augmented retinal degeneration in low dose (20 mg/kg) NaIO3-treated mice and increased retinal cell apoptosis which was mainly localized to the RPE layer.

RPE

retinal degeneration


Input: On brain and cervical MRI examination, abnormalities in our patient did not differ from those detected in male patients: J-shaped pituitary sella, enlargement of perivascular spaces, brain atrophy, mild T2-hyperintensity in the paratrigonal white matter, diffuse platyspondylia, and mild odontoid dysplasia with odontoid cup.

MRI

enlargement


Input: While these differences may represent differential behaviour of synovial fibroblasts in in vitro culture, these observations suggest that TFPI2, GRObeta (CXCL2), MnSOD and GCP-2 (CXCL6) may represent new targets for treatments specifically tailored to osteoarthritis.

osteoarthritis

osteoarthritis


Input: Thus, beta-catenin mutations may have more importance in the genesis of adenomas than ACF or adenocarcinomas in rat colon carcinogens by PhIP.

beta-catenin

ACF

beta-catenin

ACF


Input: Similar results were obtained for HDL (2)-C. In conclusion, SR-BI gene variation modulates the lipid profile, particularly in type 2 diabetes, contributing to the metabolic abnormalities in these subjects.

SR-BI

abnormalities


Input: Mutations in the gene encoding the α1 subunit of the voltage gated sodium channel (SCN1A) are associated with several epilepsy syndromes, ranging from relatively mild phenotypes found in families with genetic epilepsy with febrile seizures plus (GEFS +) to the severe infant-onset epilepsy Dravet syndrome.

mild


Input: Vincristine-treated rats (0. 1mg/kg, daily i. p. administration for two 5-day cycles) developed thermal allodynia and mechanical hypersensitivity, which decreased in a dose-related manner after epidural injection a 5-HT2A receptor antagonist.

thermal allodynia

thermal allodynia


Input: In this study, we show that Spz1, a bHLH-zip transcription factor, acts downstream of mitogen-activated protein kinase (MAPK, extracellular signal-regulated kinase 1/2) to up-regulate cell proliferation and tumorigenesis.

extracellular signal-regulated kinase 1

tumorigenesis


Input: We tested the hypothesis that significantly higher IL-1beta responses to toxic shock syndrome toxin (TSST) noted for parents of sudden infant death syndrome (SIDS) infants might be due in part to genetic factors such as the IL-1beta (C-511T) and IL-1RN (T + 2018C) single nucleotide polymorphisms (SNP).

toxic shock syndrome


Input: For rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis and osteoarthritis diseases, those common factors include TNFSF10, CX3CR1, LY96, TLR5, TXN, TIA1, PRKCH, and PRF1.

PRKCH

systemic lupus erythematosus


Input: AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.

Glanzmann thrombasthenia

Glanzmann thrombasthenia


Input: In agreement with this exceptionally mild BBS1-associated phenotype, we did not detect obvious ciliary defects in patient-derived cells.

mild


Input: Treatment with diphenyleneiodonium, a nicotinamide adenine dinucleotide phosphate oxidase (NOX) inhibitor, blocked glyLDL-induced translocation of H-Ras, elevated abundances of HSF1 and PAI-1 in EC, and increased release of hydrogen peroxide from EC.

translocation


Input: DNA sequences of HBV basal core promoter (BCP) and the overlapping X gene were determined in 58 HCC and 71 chronic hepatitis (CH) patients.

HCC

chronic hepatitis


Input: Using tissue microarrays consisting of 448 cases of melanomas (201 for the training set and 247 for the validation set) and 105 cases of nevi, we found that Tip60 expression was significantly reduced in metastatic melanoma compared to common nevi (P = 0. 045), dysplastic nevi (P = 0. 047), and primary melanoma (P = 0. 001).

metastatic melanoma


Input: In addition, Task2 (-/-) mice lost the long-term hypoxia-induced respiratory decrease whereas the acute carotid-body-mediated increase was maintained.

hypoxia


Input: During the early stages of acute pancreatitis, alpha-amylase absorbed from AF through the gastrointestinal tract could interfere with the binding of XDH/XOD attached to glycoproteins of the endothelial cells.

XDH

acute pancreatitis


Input: Molecularly characterized forms include Dunnigan-type familial partial lipodystrophy (FPLD), partial lipodystrophy with mandibuloacral dysplasia (MAD), Berardinelli-Seip congenital generalized lipodystrophy (CGL), and some cases with Barraquer-Simons acquired partial lipodystrophy (APL).

MAD

familial partial lipodystrophy


Input: The aim of the present study was to determine the relation of EPH tyrosine kinase receptor B2 (EPHB2) A9 region mutation and microsatellite instability (MSI); and to analyze their influence in prognosis of patients with sporadic colorectal cancer (CRC).

sporadic


Input: To explore the status of this gene in the acute depressive state we have quantified the expression of RNF123 in the blood leukocytes (N = 17), dorsolateral prefrontal and cingulate cortex (N = 24) of patients with diagnosed depression and of matched controls.

depression

depression


Input: Moreover, two inhibitors of anoctamin ion channels, tannic acid and a more selective inhibitor of anoctamin 1, significantly inhibited PLC cyst growth and cyst enlargement in an embryonic kidney cyst model.

PLC

kidney cyst


Input: Relative mRNA level of KCNQ5 (p = 0. 025) was significantly downregulated in CDH lungs compared to controls.

CDH

CDH


Input: In many cases we could not specifically differentiate skin strains or throat strains that could be associated with ARF or acute glomerulonephritis.

ARF

acute glomerulonephritis


Input: Our qualitative protein profiling strategy offers the first comprehensive analysis of the gastric cancer cell proteome, identifying 926 and 909 proteins from SC-M1 and TMC-1 cells, respectively.

TMC

gastric cancer


Input: Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.

cranioectodermal dysplasia

cranioectodermal dysplasia


Input: After 24 weeks on a high-fat diet (HFD), obesity, insulin resistance, hepatic steatosis and inflammatory responses are significantly ameliorated in liver-specific TRAF3-knockout mice, but exacerbated in transgenic mice overexpressing TRAF3 in hepatocytes.

insulin resistance


Input: This mechanism may contribute to genomic instability and provide justification for targeting PARP1 and/or RAD52 to induce synthetic lethality in " BRCAness " CML and BCR-ABL1-positive ALL cells.

BCR

genomic instability


Input: Correspondingly, severe combined immunodeficiency-repopulating cells were increased 2. 9-fold during a 7-day culture with NR-101 compared to freshly isolated CD34 (+) cells, and 2. 3-fold compared to that with TPO.

TPO

severe combined immunodeficiency


Input: Database comparisons with EAF2 identified a region with a high content of serine, aspartic acid, and glutamic acid residues that is conserved with EAF1 and exhibited amino acid similarity with several translocation partner proteins of MLL, including AF4 and ENL.

translocation


Input: Both the rat pituitary tumor cell line AtT-20 and the human myeloid leukemia cell line K562, contained proopiomelanocortin (POMC) mRNA.

POMC

myeloid leukemia


Input: Animals treated with IGF-I also gained weight compared to controls, but this weight gain was less than that seen in GH-treated rats.

IGF-I

weight gain


Input: Erythropoietic protoporphyria (EPP) is an inherited disease characterised by a ferrochelatase (FECH) deficiency, the latest enzyme of the heme biosynthetic pathway, leading to the accumulation of toxic protoporphyrin in the liver, bone marrow and spleen.

ferrochelatase

Erythropoietic protoporphyria

ferrochelatase

Erythropoietic protoporphyria


Input: We sequenced the FP/TMEM127 gene in 990 individuals with pheochromocytomas and/or paragangliomas, including 898 previously unreported cases without mutations in other susceptibility genes from 8 independent worldwide referral centers between January 2009 and June 2010.

pheochromocytomas

pheochromocytomas


Input: Wnt4 expression is induced throughout the collecting ducts in four murine models of renal injury that produce tubulointerstitial fibrosis: folic acid-induced nephropathy, unilateral ureteral obstruction, renal needle puncture, and genetic polycystic kidney disease.

nephropathy

nephropathy


Input: After aortic endothelial denudation, NOS3 null mice show elevated neointima formation, detecting increased mobilization of LSK (lineage-negative [Lin]-stem-cell antigen 1 [SCA1] + KIT +) progenitor cells, and high ratios of M1 (proinflammatory) to M2 (resolving) macrophages, accompanied by high expression of interleukin-5, interleukin-6, MCP-1 (monocyte chemoattractant protein), VEGF (vascular endothelial growth factor), GM-CSF (granulocyte-macrophage colony stimulating factor), interleukin-1β, and interferon-γ.

neointima formation


Input: RNAi-mediated silencing of hepatic TTR expression inhibited TTR deposition and facilitated regression of existing TTR deposits in pathologically relevant tissues.

TTR

regression


Input: X-linked inhibitor of apoptosis (XIAP) deficiency, caused by mutations in BIRC4, is an immunodeficiency associated with immune dysregulation and a highly variable clinical presentation.

immune dysregulation


Input: Moreover, resveratrol treatment of hyperglycemic IRS2 (-/-) mice decreased hepatic PTP1B mRNA and inhibited PTP1B activity, thereby restoring IRS1-mediated PI 3-kinase/Akt/Foxo1 signaling and peripheral insulin sensitivity.

insulin sensitivity


Input: Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21. 2-p22. 2.

keratosis follicularis spinulosa decalvans


Input: However, loss of function of one ERBB2IP copy or expression of a putative novel ERBB2IP fusion protein did not apparently modulate the DEB phenotype in both translocation patients.

translocation


Input: We describe a case of severe neonatal anemia with kernicterus caused by compound heterozygosity for null mutations in KLF1, each inherited from asymptomatic parents.

kernicterus


Input: The t (12: 21) translocation fuses the TEL and AML1 genes and has been found in up to 28% of paediatric B-cell precursor acute lymphoblastic leukaemias (BCP-ALL).

BCP

translocation


Input: The overlapping clinical and neuropathologic features between late-onset apparently sporadic Alzheimer' s disease (LOAD), familial Alzheimer' s disease (FAD), and other neurodegenerative dementias (frontotemporal dementia, corticobasal degeneration, progressive supranuclear palsy, and Creutzfeldt-Jakob disease) raise the question of whether shared genetic risk factors may explain the similar phenotype among these disparate disorders.

FAD

sporadic


Input: Gas6 expression is most abundant in lesions containing high amounts of macrophages, ie thin fibrous cap atheroma and ruptured plaque.

atheroma


Input: The findings suggest that the TNF-alpha G-308A polymorphism does not mediate the effect of smoking on plasma CRP levels.

TNF-alpha

smoking


Input: The Royal College of Surgeons (RCS) rat is a widely studied animal model of retinal degeneration in which the inability of the retinal pigment epithelium (RPE) to phagocytize shed photoreceptor outer segments leads to a progressive loss of rod and cone photoreceptors.

RPE

retinal degeneration


Input: Risk factors examined were antithrombin, protein C and protein S levels, factor V Leiden, the prothrombin G20210A mutation, the methylenetetrahydrofolate reductase C677T polymorphism, and acquired thrombophilic risk factors, including anticardiolipin antibodies, lupus anticoagulant, and serum homocysteine levels.

methylenetetrahydrofolate reductase

lupus anticoagulant


Input: PTX3-deficient mice showed defective control of UTIs and exacerbated inflammation.

inflammation


Input: To investigate the role of DCD in breast tumorigenesis, we analyzed the consequences of its downregulation in human breast cancer cell lines using three specific shRNA lentiviral vectors.

DCD

tumorigenesis


Input: In pancreatic cancer cells, unlike childhood sarcoma, STAT-3, rather than RPS6, is activated in response to IGF-1, in a RON-dependent manner.

pancreatic cancer


Input: We evaluated the interaction between GSTP1 Val allele and Helicobacter pylori infection, smoking and alcohol consumption, increasing the risk of gastric cancer among the Chinese population.

alcohol consumption


Input: All 16 probands exhibited characteristic BVMD fundus appearances, abnormal EOG, and normal ERG responses with the exception of one diabetic retinopathy proband.

ERG

diabetic retinopathy


Input: HDAC4, a prognostic and chromosomal instability marker, refines the predictive value of MGMT promoter methylation.

chromosomal instability


Input: The serum concentration of the inter-alpha trypsin inhibitor heavy chain 4 protein (ITIH4) increases (from 1. 4-3 times) in male patients suffering of different acute-phase processes (myocardial infarction, unstable angina or programmed surgery).

heavy chain

myocardial infarction


Input: Since SphK-1 is overexpressed in EC from brain tumors, these data also suggest that this kinase and its product could contribute to the acquisition and the maintenance of the multidrug resistance phenotype in brain tumor-derived endothelial cells.

SphK

brain tumor


Input: The aim of this study was to determine whether GNAI2 variations modulate the risk for these abnormalities.

abnormalities


Input: To determine which ABC transporter was expressed differently in patients with hepatic viral infection, we assayed the expression of MDR1, MDR3, MRP1, MRP2, and MRP3 in non-cancerous regions in the liver of 42 patients with hepatic tumors using both quantitative RT-PCR and immunological staining analysis, and compared the hepatic expression levels between patients with hepatitis viral infection and non-infected controls.

hepatitis viral


Input: The NUP98-HOXD13 fusion transcript generated by the translocation was detected in the patient' s bone marrow cells by reverse transcription-polymerase chain reaction (RT-PCR).

translocation


Input: Quantitative real-time polymerase chain reaction revealed that AIPC and extra-pancreatobiliary lesions had significantly higher ratios of interleukin (IL)-4/interferon-gamma (IFN-gamma) (45. 8-fold), IL-5/IFN-gamma (18. 7-fold), IL-13/interferon (IFN)-gamma (20. 7-fold), IL-10/CD4 (45. 3-fold), and tumor growth factor (TGF)-beta/CD4 (39. 4-fold) than did primary sclerosing cholangitis (PSC) and primary biliary cirrhosis (PBC).

IFN

primary sclerosing cholangitis


Input: Patients with chronic hepatitis and liver cirrhosis, conditions which are frequent precursors to HCC, were negative for these autoantibodies, suggesting that the immune response might be related to cellular events leading to transformation.

HCC

chronic hepatitis


Input: The odds ratio of the-250 A hepatic lipase allele for the PAD was 1. 69 (95% confidence interval of 1. 08-2. 64), when adjusted for current smoking, arterial hypertension, cholesterol, triglycerides, HbA (1C), total homocysteine and high sensitivity C-reactive protein.

hepatic lipase

smoking


Input: Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.

PTPRQ

PTPRQ


Input: The TSN from uveal melanoma cell lines is capable of affecting the chemotactic response and maturation of monocytes in vitro, but this is irrespective of hypoxia.

TSN

uveal melanoma


Input: Polymorphisms of the renin gene were associated with blood pressure levels and risk of hypertension in women over 40 years old.

renin gene

blood pressure


Input: PCR-SSCP analysis followed by direct sequencing revealed that TP53 mutations account for 40% (12/30) of sporadic Kangri cancer patients and that PTEN mutations account for only 6. 6% (2/30).

sporadic


Input: We undertook detailed neuropathology on surgically resected brain tissue of two patients with intractable mesial temporal lobe epilepsy (MTLE), who had the same heterozygous NDE1-containing 800 kb 16p13. 11 deletion, using routine histological stains and immunohistochemical markers against a range of layer-specific, white matter, neural precursor and migratory cell proteins, and NDE1 itself.

temporal lobe epilepsy


Input: The additive effects of PC and EPO on infarct size were mirrored by their effects on the level of phosphorylated GSK-3 beta at 5 min after reperfusion but not their effects on the level of phospho-Akt or phospho-STAT3.

infarct


Input: We now report that deficiency for Artemis (encoded by Dclre1c/Art in mouse) accelerates tumorigenesis in several tissues in a Trp53 heterozygous setting, revealing tumor suppression roles for NHEJ in lymphoid and non-lymphoid cells.

tumorigenesis


Input: We also conclude that blocking & #945; 7nAchR reduces the phosphorylation of STAT3, increases the expression of TNF-& #945; and IL-6, aggravating viral myocarditis.

TNF

myocarditis

TNF

myocarditis


Input: The adhesion-promoting effects of HO-1 were dependent on PXDN expression, as loss of PXDN in HO-1 expressing BeWo and 607B cells led to reduced cell attachment to Laminin and Fibronectin coated wells.

PXDN

adhesion


Input: In mouse models, genetic inactivation of Notch signaling leads to Erk1/2 phosphorylation, resulting in tumorigenesis in the urinary tract.

tumorigenesis


Input: There is a complex heterozygous mutation of PDE6B gene responsible for a sporadic RP patient in China.

PDE6B gene

sporadic


Input: Mutations of the neurofibromatosis 2 (NF2) tumor suppressor gene have frequently been detected not only in schwannomas and other central nervous system tumors of NF2 patients but also in their sporadic counterparts and malignant tumors unrelated to the NF2 syndrome such as malignant mesothelioma, indicating a broader role for the NF2 gene in human tumorigenesis.

NF2 gene

sporadic


Input: Repeated subcutaneous injections of parathyroid hormone-related protein into the hind-paw also induced hyperalgesia with increased osteoclastic bone resorption.

parathyroid hormone-related protein

hyperalgesia

parathyroid hormone-related protein

hyperalgesia


Input: We found that like HTNV N, the N proteins of HFRS-causing Seoul and Dobrava viruses inhibited TNF-alpha activation of NF-kappaB and translocation of the NF-kappaB p65 subunit, but did not interfere with degradation of inhibitor of NF-kappaB (IkappaB).

TNF-alpha

translocation


Input: We assessed microsatellite instability, quantified DNA methylation in repetitive long interspersed nucleotide element-1 (LINE-1) by Pyrosequencing, eight CIMP-specific promoters [CACNA1G, CDKN2A (p16), CRABP1, IGF2, MLH1, NEUROG1, RUNX3, and SOCS1], and eight other CpG islands (CHFR, HIC1, IGFBP3, MGMT, MINT1, MINT31, p14, and WRN) by real-time PCR (MethyLight).

microsatellite instability


Input: To test the hypothesis, haplotype tagging single nucleotide polymorphisms and potential functional polymorphisms of CYP4A11 and CYP4F2 genes were genotyped in 558 ischemic stroke patients, 221 hemorrhagic stroke patients and 557 controls.

hemorrhagic stroke


Input: These results first suggest that hepatocarcinogenesis involves an increased expression of DNMT1, DNMT3a and DNMT3b mRNA and a progressive increase in the number of methylated genes from normal liver, chronic hepatitis/cirrhosis to HCC and secondly that an increase in the DNMT3a and DNMT3b mRNA levels in HCCs relative to their non-cancerous tissues may be a predictor of poor survival.

HCC

chronic hepatitis


Input: The TWEAK-Fn14 system has now been identified as a novel inducer of skeletal muscle wasting.

TWEAK

muscle wasting


Input: The stimulatory action of sFRP2 in pigmentation was further confirmed in melanocytes cocultured with fibroblasts and in ex vivo cultured skin.

pigmentation


Input: Our data also suggest a role for increased oxidative stress, which is at least in part dependent on enhanced COX-2 expression, in the mechanism (s) of enhanced aortic contractility in response to norepinephrine during DOCA-salt hypertension.

hypertension

hypertension


Input: Gel retardation assays indicated that butyrate also stimulated heat-shock factor (HSF) binding activity between 3 and 6 h, suggesting that the activation of HSP70 gene expression was mediated by the heat-shock factor DNA response element (HSE).

shock


Input: Promoter footprinting with nuclear extracts reveals an intense Ets hypersensitivity site at the EBS whose degree of intensity correlates with the level of cellular ErbB2 expression.

hypersensitivity


Input: A prominent role of NF-κB in innate and adoptive immunity is based on the regulation of inducible transcription of various genes whose products are essential components of the immune response such as cytokines, chemokines, and adhesion molecules.

NF-κB

adhesion


Input: Lopinavir-induced cytosolic translocation of HuR and TNF-alpha and IL-6 synthesis was attenuated by specific chemical inhibitor of MEK (PD98058) or over-expression of dominant negative mutant of MEK1.

TNF-alpha

translocation


Input: Moreover, accelerated telomere shortening may be induced by replicative stress or oxidative damage, leading to genomic instability, and inactivating polymorphisms of the gene encoding NADPH-quinone oxidoreductase (NQO1) are more frequently observed in patients with t-AML.

quinone oxidoreductase

genomic instability


Input: Cells expressing the TNF-alpha gene were located exclusively inside granulomas and were always scattered.

alpha gene

granulomas


Input: Immunohistochemical analysis showed increased levels of phospho-Smad1/5 concomitant with suppression of phospho-S6 and survivin levels in PC3 human prostate cancer xenografts in athymic mice administered rapamycin (intraperitoneally, 5 mg/kg/d, 2-6 days).

prostate cancer


Input: Targeted deletion of BK channel in mice resulted in an osteoclast-autonomous osteopenia, becoming apparent in juvenile females.

BK channel

osteopenia

BK channel

osteopenia


Input: Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

paroxysmal kinesigenic dyskinesia with infantile convulsions

paroxysmal kinesigenic dyskinesia with infantile convulsions


Input: Mouse breast regression protein 39 (BRP-39; Chi3l1) and its human homologue YKL-40 are chitinase-like proteins that lack chitinase activity.

regression


Input: Our findings suggest that the presence of EndoG in non-invasive breast cancer cells determines their sensitivity to apoptosis, which may be taken into consideration for developing the chemotherapeutic strategy for cancer treatment.

EndoG

invasive breast cancer


Input: Based on these findings, a protocol for optimizing MTD test performance in this setting is proposed in which (i) specimens from patients taking antituberculosis medications are excluded from testing and (ii) all initially MTD-negative or MTD-equivocal specimens are subjected to testing for inhibitors.

MTD

all


Input: Here, we show that CCM2, a gene product associated with cerebral cavernous malformations, interacts with the juxtamembrane region of TrkA via its phosphotyrosine binding (PTB) domain and mediates TrkA-induced death in diverse cell types.

PTB

cerebral cavernous malformations


Input: It protects against neurodegeneration partly through a proteasome-mediated pathway in a manner similar to heat-shock protein 70 (Hsp70).

shock


Input: Craniofrontonasal syndrome (CFNS, MIM #304110) is a rare X-linked dominant developmental disorder that shows paradoxically greater severity in affected females than in affected males.

MIM

developmental disorder


Input: Significantly lower rates of BRCA1/BRCA2 founder mutations in Ashkenazi women with sporadic compared with familial early onset breast cancer.

sporadic


Input: The data indicate that robust transcriptional activation of p53 is linked to the known hypersensitivity of testicular germ cell tumors to chemotherapy.

hypersensitivity


Input: These findings suggest potential integrated roles for INT6, TID1, and Patched proteins in cell growth, development, and tumorigenesis.

tumorigenesis


Input: Recurrent somatic mutation of SRSF2, one of the RNA splicing machinery genes, has been identified in a substantial proportion of patients with myelodysplastic syndrome (MDS).

somatic mutation


Input: This does not exclude very low levels of FANCF, FANCB or NBS1 methylation, but suggests other factors are responsible for chemo-sensitivity and chromosomal instability in sporadic childhood leukaemia.

FANCF

sporadic


Input: Psychopathological symptoms, doses, and duration of treatment with risperidone, sex, skin color, body mass index (BMI), use of other psychotropic drugs, and polymorphisms of DRD2, HTR2C, CYP2D6, LEP, LEPR, MC4R, and SCARB2 genes were evaluated.

body mass index


Input: Dysregulation of Rnd3 has been linked to tumorigenesis and metastasis.

tumorigenesis


Input: However, treatment with olmesartan, an Ang II type 1 receptor-specific antagonist, either at a depressor or subdepressor dose, recovered the suppressed cardiac ATRAP to Ang II type 1 receptor ratio, which was accompanied by a decrease in Ang II type 1 receptor density, an inhibition of p38 mitogen-activated protein kinase activity, and a regression of cardiac hypertrophy.

ATRAP

cardiac hypertrophy


Input: AQP4 was positive in 92% of Graves' disease thyroids and 97% of multinodular goiters, and we failed to demonstrate AQP3 in these hyperplastic tissues.

goiters


Input: Analysis of effects on estimated GFR, stratified by albuminuria status, showed that in those without albuminuria (normoalbuminura; n = 613), UMOD had a significantly stronger effect on estimated GFR (β (normo) = 4. 03 ± 1. 23 vs β (albuminuria) = 1. 72 ± 0. 76, P = 0. 002) compared with those with albuminuria, while GCKR (β (normo) = 0. 45 ± 0. 89 vs β (albuminuria) = 1. 12 ± 0. 55, P = 0. 08) and SHROOM3 (β (normo) =-0. 07 ± 0. 89 vs β (albuminuria) =-1. 43 ± 0. 53, P = 0. 003) had a stronger effect on estimated GFR in those with albuminuria.

GFR

albuminuria


Input: The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity.

deafness


Input: Among the 23 unrelated non-syndromic hearing loss Brazilian patients with EVA, in whom no deafness-causing mutations of the GJB2 gene, the direct sequencing was performed to screen the 20 exons and their flanking regions of the SLC26A4 gene.

EVA

deafness


Input: PRND expression was directly related to malignancy of the tumor: highest in glioblastoma multiforme, lower in anaplastic astrocytoma and even lower in the low-grade astrocytoma samples.

PRND

glioblastoma multiforme


Input: While in vitro, following release from serum starvation of A549 NSCLC cell, the expression of EMP3 was deregulated.

starvation


Input: Five of 6 molecular types recorded in Japan, i. e., NTS types I, II, IV, V, and VI, and two new types, designated NTS VII and NTS VIII, were observed among 10 strains isolated from sporadic cases.

VIII

sporadic


Input: In this work, we demonstrate that genetic ablation of the endogenous inhibitor of SirT1, Deleted-in-Breast-Cancer-1 (Dbc1), unexpectedly results in obesity and insulin resistance.

insulin resistance


Input: Inactivation of Crk SH3 domain-binding guanine nucleotide-releasing factor (C3G) in cervical squamous cell carcinoma.

cervical squamous cell carcinoma


Input: Endoscopic radiofrequency ablation (RFA) eradicates intestinal metaplasia and intraepithelial neoplasia associated with Barrett' s esophagus (BE), restoring an endoscopically normal neosquamous epithelium (NSE).

NSE

intraepithelial neoplasia


Input: MCIDAS mutant respiratory epithelial cells carry only one or two cilia per cell, which lack ciliary motility-related proteins (DNAH5; CCDC39) as seen in primary ciliary dyskinesia.

MCIDAS

primary ciliary dyskinesia

MCIDAS

primary ciliary dyskinesia


Input: These findings indicate that the loss or reduced expression of the adhesion molecule BGP is a major event in colorectal carcinogenesis.

BGP

carcinogenesis


Input: We now for the first time report a double mutation of the RET proto-oncogene occurring in the germline of a kindred with FMTC.

RET proto-oncogene

FMTC

RET proto-oncogene

FMTC


Input: The atopic immune response contributes to the skin barrier defect in AD; therefore, neutralization of IL-4 and IL-13 could improve skin barrier integrity.

atopic


Input: After categorization of the subjects, associations between serum IL-10 and TNF-α levels and the extent of periodontal inflammation were studied using linear regression models adjusted for age, gender, body mass index and smoking.

TNF-α

smoking


Input: Neutrophil-derived myeloperoxidase aggravates non-alcoholic steatohepatitis in low-density lipoprotein receptor-deficient mice.

low-density lipoprotein receptor

non-alcoholic steatohepatitis

low-density lipoprotein receptor

non-alcoholic steatohepatitis


Input: Quantitative kinetic reverse transcription-polymerase chain reaction was developed to determine the in vivo expression levels of CCR5, CXCR4, CCR3, CCR2b, and the cytomegalovirus-encoded US28 in peripheral blood mononuclear cells and cervical biopsies from 12 women with and without sexually transmitted diseases, genital ulcer disease, and progesterone-predominant conditions.

sexually transmitted diseases


Input: We conclude that Cousin syndrome is caused by TBX15 insufficiency and is thus the human counterpart of the droopy ear mouse.

Cousin syndrome

Cousin syndrome


Input: In the present study, the differential mRNA expression of SVEP1, LPHN3, KLB, ITGA7, SEMA3G, TNS1 and MMP13 genes was examined in breast cancer using quantitative real-time reverse transcription polymerase chain reaction (QRT-PCR).

breast cancer


Input: Overexpression of PDCD4 via adenovirus (Ad-PDCD4) increases VSMC apoptosis in an apoptotic model induced by serum deprivation.

adenovirus


Input: Immunological tests showed pan-hypogammaglobulinemia and a decrease of peripheral blood B cells (4%) and CD4 + cells (25%).

hypogammaglobulinemia


Input: Steroid 17 alpha-hydroxylase deficiency is caused by defects in cytochrome P450c17, the single enzyme that has 17-alpha hydroxylase and 17, 20-lyase activities.

cytochrome P450c17

17 alpha-hydroxylase deficiency

cytochrome P450c17

17 alpha-hydroxylase deficiency


Input: Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS-IV.

EDS-IV

EDS-IV


Input: The 22q13. 3 deletion syndrome (or Phelan-McDermid syndrome, MIM 606232) is characterized by developmental delay, absent or severely delayed speech, neonatal hypotonia, autistic behavior, normal to accelerated growth, and minor dysmorphic facial features.

MIM

neonatal hypotonia


Input: Nine hundred and sixty-nine MESA participants were genotyped and underwent CT examinations for coronary artery calcification (CAC) and carotid ultrasound examinations for intima media thickness.

CAC

coronary artery calcification


Input: Here, we identify the SRY-related high-morbidity-group (HMG) box 5 (SOX5) gene on chromosome 12p12 as a novel IGH-involved translocation partner in the case of BCL2-negative follicular lymphoma (FL) with a complex karyotype including t (12; 14) (p12. 2; q32) by long-distance inverse PCR.

SRY

translocation


Input: Remarkably, the drugs targeted a putative leukemia-initiating cell sub-population (CD34 (+)/CD7 (-)/CD4 (-)) in patient samples.

leukemia


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

sporadic


Input: We found little evidence for a gene-gene-exposure, three-way interaction among the XPD codon 751 genotype, smoking, and the NAT1/NAT2 genotype.

smoking


Input: We studied 18 unrelated cases with BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations.

sporadic


Input: Here we show that CD44 (high) CD24 (low) cells isolated from the oral cancer cell lines, not only express stem cell related genes but also exhibit Epithelial-to-Mesenchymal transition (EMT) characteristics.

oral cancer


Input: We describe a heterozygous dominant mutation (c. 1352G--> A/p. G451E) in POLG2, the gene encoding the p55 accessory subunit of pol gamma, that causes progressive external ophthalmoplegia with multiple mtDNA deletions and cytochrome c oxidase (COX)-deficient muscle fibers.

COX

progressive external ophthalmoplegia


Input: To determine the mechanism causing this progression and the paradoxical fasting hypoglycemia, we conducted a retrospective study in a patient with Rabson-Mendenhall syndrome, who was a compound heterozygous for two missense mutations affecting the kinase domain of the insulin receptor beta-subunit (I1115T and R1131W).

insulin receptor

Rabson-Mendenhall syndrome

insulin receptor

Rabson-Mendenhall syndrome


Input: We report a new locus, designated JC-1, which maps between the gene responsible for adrenal hypoplasia (AHC) and the gene that encodes glycerol kinase (GK) in Xp21. 2-21. 3.

adrenal hypoplasia


Input: We assessed phospho-ERK expression in 37 patients with hairy cell leukemia and 44 patients with neoplasms mimicking hairy cell leukemia (40 splenic marginal zone lymphoma, 2 hairy cell leukemia-variant and 2 splenic lymphoma/leukemia unclassifiable) using immunohistochemistry on routine biopsies and/or Western blotting on purified leukemic cells, and correlated the phospho-ERK status with the BRAF-V600E mutation status.

BRAF

splenic lymphoma


Input: In human prostate tissue samples, loss of NKX3. 1 expression and corresponding clusterin overexpression are co-localized at sites of prostatic inflammatory atrophy, a possible very early stage of human prostate tumorigenesis.

NKX3. 1

atrophy


Input: The results showed that hyperglycemic ischemia upregulated the expressions of hsp70, hsp90A, hsp90B, heat shock cognate 71 kD protein (hsc70) and mthsp70.

ischemia


Input: Telmisartan prevents weight gain and obesity through activation of peroxisome proliferator-activated receptor-delta-dependent pathways.

peroxisome proliferator-activated receptor-delta

obesity

peroxisome proliferator-activated receptor-delta

obesity


Input: In the other case, a variety of molecular studies did not reveal a translocation involving the EWS gene but this tumour, on the balance of probability, is still considered to represent a neoplasm in the EFTs.

EWS gene

translocation


Input: Since biochemical diagnosis is problematic, the identification of hydroxymethylbilane synthase mutations has facilitated the detection of AIP heterozygotes.

hydroxymethylbilane synthase

AIP

hydroxymethylbilane synthase

AIP


Input: We generated transgenic mice lacking endogenous class II molecules, HLA-DR3. Abo and HLA-DQ8. Abo transgenic mice in NOD and HLA-DQ8. Abo in B10 background, to study the role of MHC in spontaneous autoimmunity.

autoimmunity


Input: Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer.

asymptomatic


Input: Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.

glutaryl-CoA dehydrogenase

glutaric aciduria type I

glutaryl-CoA dehydrogenase

glutaric aciduria type I


Input: Two patients with HER2 3 + breast cancer within the 500 ng/kg dose level experienced grade 1 asymptomatic decreases in left ventricular ejection fraction of 12% and 19% after 3 and 10 months of therapy, respectively.

asymptomatic


Input: A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria.

coproporphyrinogen oxidase

hereditary coproporphyria

coproporphyrinogen oxidase

hereditary coproporphyria


Input: Elevated serum CRP levels are associated with endothelial dysfunction, coronary artery calcification and cardiac diastolic dysfunction in chronic cocaine users.

CRP

coronary artery calcification


Input: Serum fasting plasma glucose (FPG), postprandial plasma glucose (PPG), glycated haemoglobin (HbA1c), fasting serum insulin (FINS), postprandial serum insulin (PINS), triglycerol (TG), cholesterol (CHO), low-density lipoprotein cholesterol (LDL-c), high-density lipoprotein cholesterol (HDL-c), homeostasis model assessment for insulin resistance (HOMA-IR), and body mass index (BMI) were determined before and after metformin treatment.

PPG

body mass index


Input: Herein we demonstrate that thio-ccPA 18: 1, a stabilized phosphonothionate analogue of carba cyclic phosphatidic acid, ATX inhibitor and LPA1/3 receptor antagonist, induced a marked reduction in the viability of B16F10 metastatic melanoma cells compared with PBS-treated control by 80-100%.

metastatic melanoma


Input: We tested 76 FAD families, 127 " sporadic " AD subjects, 16 Down syndrome cases, and 256 normal controls for this mutation, and none were positive.

FAD

sporadic


Input: We confirmed that beta2-/-mice exhibit impaired exploratory and social behaviour, and further demonstrated their nocturnal hyperactivity.

hyperactivity


Input: Furthermore, METRNL administration rescued glucose intolerance and reduced HFD-induced body weight gain in mice; however, METRNL did not affect calorie intake.

METRNL

body weight gain

METRNL

body weight gain


Input: Further studies also elucidated the oncogene nature of the G protein-coupled receptor LPAR4 and its c. 872T & gt; G (p. Ile291Ser) mutation in PTC malignant transformation.

PTC

PTC


Input: Finally, our in vivo studies confirmed that SAA treatment results in a significant increase in plasma G-CSF and neutrophilia, whereas these responses are ablated in G-CSF-or TLR2-deficient mice.

neutrophilia


Input: These findings clearly demonstrate a state of progressive genomic instability that increases the likelihood of a " second hit " or complimentary mutation later in the disease to trigger development of acute leukemia and underscores the mechanistic nature of how the NUP98-HoxD13 transgene induces progression of MDS to acute leukemia.

hit


Input: Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia


Input: The different translocation partners of the EWS gene, all of which are putative or definite transcription factor genes, may be responsible for the biological differences between DSRCT, Ewing' s sarcoma, and clear cell sarcoma.

EWS gene

translocation


Input: A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia.

XEDAR

hypohidrotic ectodermal dysplasia

XEDAR

hypohidrotic ectodermal dysplasia


Input: Initial discovery (in the 997 subjects) and replication (in 1728 white subjects) association analyses identified three poly-miRTSs (rs6854081, rs1048201, and rs7683093) in the fibroblast growth factor 2 (FGF2) gene that were significantly associated with femoral neck bone mineral density (BMD).

bone mineral density


Input: Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

KRAS

nevus sebaceous

KRAS

nevus sebaceous


Input: PAI-1 (-/-) mice were protected from these ECM changes, indicating a causal role of PAI-1 in this fibrosis model.

ECM

fibrosis


Input: The significant dissimilarities regarding DNA ploidy, p21 and p53 in these quite homogeneous groups of FBC and MBC point to different genomic instability and to differences in cell cycle proliferative control, reinforcing the view of somewhat distinct tumour oncogenesis.

genomic instability


Input: Platelet-activating factor receptor agonists mediate xeroderma pigmentosum A photosensitivity.

Platelet-activating factor receptor

photosensitivity


Input: Forty-seven ARPKD and 14 pedigrees with congenital hepatic fibrosis and/or Caroli' s disease, were screened for PKHD1 mutations.

ARPKD

ARPKD


Input: Conversely, overexpression of Pdcd4 significantly reversed the hypoxia induction of LOX expression in T47D cells attenuated for Pdcd4.

LOX

hypoxia


Input: Notably, IL-2-mediated pulmonary edema was abrogated by a blocking antibody to IL-2Ralpha (CD25), genetic disruption of CD25, or the use of IL-2Rbetagamma-directed IL-2/anti-IL-2 antibody complexes, thereby interfering with IL-2 binding to IL-2Ralphabetagamma (+) pulmonary endothelial cells.

pulmonary edema


Input: However, the epigenetic basis and role of specific histone deacetylase (HDAC) isoforms in the genetic predisposition to anxiety and alcoholism is unknown.

HDAC

anxiety


Input: Also, haplotype GGC conferred increased susceptibility for obesity (OR = 1. 27, P/Pperm = 9. 0 x 10-3/0. 039).

GGC

obesity


Input: SNPs in NPY2R provided significant evidence of association with alcohol dependence, alcohol withdrawal symptoms, comorbid alcohol and cocaine dependence, and cocaine dependence (all p & lt; 0. 03).

withdrawal symptoms

withdrawal symptoms


Input: Genetic variants in TGFB2, TGFBR2, and SMAD3 and their haplotypes were consistently and reproducibly associated with KD susceptibility, coronary artery aneurysm formation, aortic root dilatation, and intravenous immunoglobulin treatment response in different cohorts.

coronary artery aneurysm


Input: These data suggest that in a subset of individuals with schizophrenia, Lhx6 deficits may contribute to a failure of some cortical parvalbumin and somatostatin neurons to successfully migrate or develop a detectable GABA-ergic phenotype.

schizophrenia

schizophrenia


Input: Mutation analyses were performed by direct sequencing of SERPINC1 in 150 patients (aged < 40 years) with thromboembolism and normal antithrombin levels.]

thromboembolism


Input: The present study aimed to evaluate Skp2 abnormalities and their prognostic value in non-small cell lung cancer (NSCLC).

abnormalities


Input: Menkes disease is an X-linked recessive disorder of brain copper metabolism caused by mutations in an essential mammalian copper transport gene, ATP7A.

disorder of brain


Input: Quantitative real-time RT-PCR of ITGA7, SVEP1, TNS1, LPHN3, SEMA3G, KLB and MMP13 mRNA expression in breast cancer.

breast cancer


Input: Translated products of AOGs showed differential expression in the liver of hyperthyroid rats, where Cu/Zn SOD (SOD1), CAT and GR were decreased in contrast to Mn SOD (SOD2) and GPx1.

hyperthyroid

hyperthyroid


Input: Effect of atorvastatin on circulating proinflammatory T-lymphocyte subsets and soluble CD40 ligand in patients with stable coronary artery disease--a randomized, placebo-controlled study.

CD40 ligand

coronary artery disease

CD40 ligand

coronary artery disease


Input: Severity of cortical LB (CLB)/LN pathology was positively associated with dementia (p < 0. 001), with an odds ratio (OR) of 4. 06 (95% confidence interval [CI], 1. 87-8. 81), as was apolipoprotein E4 (APOE4) genotype (p = 0. 018; OR, 4. 19; 95% CI, 1. 28-13. 75).

CLB

dementia


Input: The structurally related beta-diketones hydroxydibenzoylmethane (HDB) and hydroxymethyldibenzoylmethane (HMDB) were able to induce apoptosis in colorectal carcinoma COLO 205 cells.

HDB

colorectal carcinoma


Input: These data provide novel insight into how RelB is required to initiate silencing in the phenotype associated with severe systemic inflammation in humans, a disease with major morbidity and mortality.

RelB

inflammation


Input: Mdr2 (-/-) mice lacking IKK2 in hepatocytes developed spontaneously a severe liver disease characterized by cholestasis, major hyperbilirubinemia and severe to end-stage fibrosis, which caused muscle wasting, loss of body weight, lethargy and early spontaneous death.

body weight


Input: Taken together, [Ca2 +] o is a candidate mediator of prostate cancer bone metastasis.

prostate cancer


Input: MSH2 immunoreactivity was decreased in SKA tumoral cells when compared to normal adjacent epidermis and to 5 cases of sporadic KA used as controls.

sporadic


Input: Multiple intestinal atresia (MIA) is a rare cause of bowel obstruction that is sometimes associated with a combined immunodeficiency (CID), leading to increased susceptibility to infections.

MIA

bowel obstruction


Input: The best overall sensitivity in detecting bone metastases demonstrated positron emission tomography (PET) with 6-[(18) F]-fluorodopamine ([(18) F]-FDA; 90%), followed by bone scintigraphy (82%), computed tomography or magnetic resonance imaging (CT/MRI; 78%), 2-[(18) F]-fluoro-2-deoxy-d-glucose ([(18) F]-FDG) PET (76%), and scintigraphy with [(123/131) I]-metaiodobenzylguanidine (71%).

MRI

bone metastases


Input: Heterozygous LPIN1 mutations may cause mild muscular symptoms.

mild


Input: Therefore, we investigated the effects of single nucleotide polymorphisms in PPARGC1A on body composition and glucose tolerance and on insulin sensitivity and secretion.

insulin sensitivity


Input: This association was also evident in subgroups of older patients (aged > 57 years), men, former smokers, patients with oral cancer, and patients with N) lymph node status (P <. 05 for all); however, such associations were not observed for the ADH1B R48H SNP.

oral cancer


Input: We have previously demonstrated that peripheral blood mononuclear cells from patients with Sézary syndrome, the leukemic form of cutaneous T-cell lymphoma which is accompanied by erythroderma and lymphadenopathy, have a Th2 cell cytokine [interleukin 4 (IL-4) and interleukin 5] production pattern.

erythroderma


Input: To evaluate the contribution of FBXO4-dependent regulation cyclin D1 in esophageal squamous cell homeostasis, we exposed FBXO4 knockout mice to N-nitrosomethylbenzylamine (NMBA), an esophageal carcinogen.

cyclin D1

esophageal


Input: Polymorphic variants of both IL-13 and IL-4R alpha have been shown to be associated with atopy.

atopy


Input: To determine if genetic differences in NAT1 and NAT2 could alter risk of gastric cancer, we tested for the presence of polymorphic N-acetyltransferase alleles (both NAT1 and NAT2) in a preliminary study of 94 gastric adenocarcinoma patients and 112 control subjects from North Staffordshire, England.

gastric cancer


Input: In a mouse model of autoimmune myositis, cellular inflammation alone was associated with similar Foxo3A and Atrogin changes.

inflammation


Input: Twenty-five novel mutations of the factor IX gene in haemophilia B.

factor IX

haemophilia B

factor IX

haemophilia B


Input: Although the primary analysis did not indicate significant genetic effects, secondary analyses revealed associations between symptom response and variants at the dopamine receptor (DRD4) promoter (p =. 05) and synaptosomal-associated protein 25 (SNAP25) allelesT1065G (p =. 03) andT1069C (p =. 05).

secondary


Input: This study characterized single-nucleotide polymorphisms (SNPs) in the GRK2 gene (ADRBK1) and determined if these and a GRK5 Gln41Leu polymorphism affect the blood pressure (BP) response to atenolol or hydrochlorothiazide or adverse cardiovascular outcomes in hypertensives.

blood pressure


Input: In contrast, neither the middle-(NF-M) or high-(NF-H) M (r) NF proteins or their mRNAs were detected in any of these glioma cell lines.

NF-M

glioma


Input: The immunostaining in benign tumors was almost uniformly negative as we found p53-positivity only in one poroma, one nodular hidradenoma, and one case of syringocystadenoma papilliferum (amongst 13 spiradenomas, 9 cylindromas, 12 nodular hidradenomas, 7 poromas, 6 syringomas, 7 syringocystadenomas papilliferum, 2 papillary tubular adenomas and 4 chondroid syringomas).

syringocystadenoma papilliferum


Input: To identify quantitative trait loci (QTL) for three obesity phenotypes: body mass index (BMI), fat mass (FM) and percent body fat (PBF) in West Africans with type 2 diabetes (T2DM).

PBF

body mass index


Input: Corticotropin-releasing factor-binding protein regulates the availability of free corticotropin-releasing factor and is a functional candidate gene for affective disorders.

Corticotropin-releasing factor-binding protein

affective disorders

Corticotropin-releasing factor-binding protein

affective disorders


Input: Mutations in NOTCH1 cause Adams-Oliver syndrome.

Adams-Oliver syndrome

Adams-Oliver syndrome


Input: Our previous studies have demonstrated a close relationship between carcinogenesis in differentiated-type gastric cancer and the expression of brain (fetal)-type glycogen phosphorylase (BGP).

BGP

carcinogenesis


Input: We asked whether polymorphisms in KIR, HLA-C, and HLA-B genes are risk factors for endometriosis.

KIR

endometriosis


Input: AAV-mediated expression of human PRELP inhibits complement activation, choroidal neovascularization and deposition of membrane attack complex in mice.

PRELP

choroidal neovascularization


Input: Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas.

TP53 genes

sporadic


Input: Our study revealed a critical role of SHP and REV-ERB & #945; in controlling rhythmic CHOP expression in alcoholic fatty liver.

SHP

fatty liver

SHP

fatty liver


Input: QM FISH applied to a subset of samples (n = 26) identified a derivative chromosome der (1; 16) (q10; p10), a result of a centromere-close translocation between chromosome arms 1q and 16p.

arms


Input: In particular, several CETP SNPs were associated with an elevation in HDL-cholesterol levels, yet a lower diastolic blood pressure, providing evidence that the blood pressure elevation induced by the CETP inhibitor torcetrapib is more likely compound specific than class specific.

CETP

diastolic blood pressure


Input: Association analysis of the 5-HT5A gene in depression, psychosis and antipsychotic response.

psychosis

psychosis


Input: There were significant interactions between increased CRP and cigarette smoking, and insulin resistance on hypertension, corresponding relative excess risk due to interactions were 0. 799 and 0. 651, respectively.

CRP

insulin resistance


Input: Ewing sarcoma (ES) is the second most frequent bone cancer in childhood and is characterized by the presence of the balanced translocation t (11; 22) (q24; q12) in more than 85% of cases, generating a dysregulated transcription factor EWS/FLI1.

EWS

translocation


Input: All 43 benign nevi, 18 dysplastic nevi, 68 non-neoplastic and benign skins, and all 56 non-neoplastic breast tissue were SOX10-positive.

nevi


Input: We report here that the compound heterozygosity or homozygosity of GPNMB truncating alleles is the cause of autosomal-recessive ACD.

GPNMB

ACD

GPNMB

ACD


Input: The complicated form is heterogeneous, caused by mutations of the L1CAM gene at Xq28 (SPG1) or the PLP gene at Xq22 (SPG2) that is allelic to Pelizaeus-Merzbacher disease (PMD).

PLP

PLP


Input: Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

hypoplastic left heart syndrome

hypoplastic left heart syndrome


Input: Strikingly, 4 out of 7 rearrangements target genes (KLK6, SLC30A3, MEOX2, and FPR2) encoding proteins that are tightly related to amyloid-β peptide metabolism or signalling.

amyloid


Input: We analyzed genetic factors, including 14 single nucleotide polymorphisms (SNPs), environmental risk factors (body mass index, age at menarche, pregnancy, age at first birth, breastfeeding, family history of breast cancer, age at menopause, use of hormone replacement therapy, alcohol intake, and smoking), serum hormones and growth factors (estradiol, testosterone, prolactin, insulin-like growth factor 1 [IGF1] and IGF binding protein 3 [IGFBP3]), and mammographic density in 913 women with breast cancer and 278 disease-free controls.

age at menopause


Input: After the transfection of CDH13 siRNA into 5637 cells, CDH13 expression was significantly decreased, and the migration, invasion, adhesion of 5637 cells, as well as MMP2 expression in 5637 cells was significantly promoted compared with blank and negative controls.

adhesion


Input: In a multicenter study involving 106 subjects, 56 with deficit schizophrenia and 50 with nondeficit schizophrenia, we tested the hypothesis that the catechol-O-methyltransferase (COMT) Val (158) Met polymorphism is associated with cognitive and motor deficits either in schizophrenia as a whole or in its deficit subtype.

COMT

motor deficits


Input: Novel ATP6V1B1 mutations were found in a patient with distal renal tubular acidosis (dRTA), hearing loss (HL), and enlargement of the vestibular aqueduct (EVA).

EVA

enlargement


Input: Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

PTCH

nevoid basal cell-carcinoma syndrome

PTCH

nevoid basal cell-carcinoma syndrome


Input: In the porcine Ameroid constrictor model of myocardial ischemia the presence of anti-Ad5 antibodies or prior intracoronary dosing with adenovirus does not prevent the ability of Ad5. FGF4, delivered by intracoronary injection, from normalizing regional myocardial function.

adenovirus


Input: CHMP5-scFv retrovirus can neutralize the abnormally high levels of the CHMP5 protein in the cytosol of AML leukemic U937 cells, thereby inducing the programmed cell death of the leukemic cells via AIF-mediated caspase-independent necrosis and apoptosis.

necrosis


Input: Levels of serum AFP, AFP-L3, GP73, and sublingual vein scores were measured in 34 patients with chronic hepatitis, 65 patients with post-hepatitis B cirrhosis, 71 patients with HCC, and 6 healthy controls.

HCC

chronic hepatitis


Input: The aim of the research was to assess possible histopathological differences between BRCA1-and BRCA2-associated malignant intraperitoneal (ovarian/fallopian tube/peritoneal) tumors and their sporadic counterparts.

sporadic


Input: Furthermore, purified GPI-anchored cytokines can be used to quickly modify tumor membranes by the protein transfer method to express the desired cytokines for vaccine development.

GPI

tumor


Input: The presence of V38A/E was significantly associated with a 4. 5-fold CD4 increase from baseline to week 24 and with a 6-fold increase at week 36 (P = 0. 004 and 0. 02 compared without V38A/E, respectively), without significant correlation with viraemia.

viraemia


Input: We assessed whether the shed ectodomain of CSPG4 (sCSPG4) might circulate and reflect potential changes in CSPG4 tissue expression (pCSPG4) due to desmoplastic and malignant aberrations occurring in pancreatic tumors.

desmoplastic


Input: Although our novel results are limited to the wild-type-p53-expressing clone from a p53-deficient cell line, we suggest that the absence of p53 in carcinoma cells may reduce the induction of CD4 + cytotoxic-T-cell activity against carcinoma cells by diminishing the expression of class-II antigen.

carcinoma


Input: The serotoninergic system is believed to be involved in suicidal behavior and there is evidence of biological abnormalities of two serotonin receptors (HTR2A, HTR2C) and one serotonin transporter (5HTT) in suicide victims.

serotonin transporter

abnormalities


Input: Cyclooxygenase 2 genetic polymorphism may increase the risk of developing leukoaraiosis in Chinese.

Cyclooxygenase 2

leukoaraiosis


Input: The study found no association between ASP and the two polymorphisms examined, although some associations were found between TNF2 and TNFB2 alleles with the development of early septic shock in ASP.

ASP

septic shock


Input: Na (+)/Ca2 + exchanger (NCX) is a plasma membrane transporter that, by regulating Ca2 + and Na (+) homeostasis, contributes to brain stroke damage.

stroke


Input: Measurements of IGF-I and IGFBP-3 during the 1st year of life were analyzed in 11 patients clinically suspected of having GHD (neonatal hypoglycemia, micropenis, or evidence of other pituitary hormone deficiencies), in whom the diagnosis was later verified.

IGF-I

neonatal hypoglycemia


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

CRKL

adhesion


Input: Suppression of ovarian carcinoma cell growth in vivo by the interferon-inducible plasma membrane protein, phospholipid scramblase 1.

phospholipid scramblase 1

ovarian carcinoma


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

ovarian tumors

ovarian tumors


Input: ATV/RTV treatment of mothers does not appear to exacerbate neonatal physiologic hyperbilirubinemia.

ATV

physiologic hyperbilirubinemia


Input: NRAS mutation is the sole recurrent somatic mutation in large congenital melanocytic nevi.

NRAS

congenital melanocytic nevi

NRAS

congenital melanocytic nevi


Input: We observed the effect of deregulating Notch3 signaling on the following cell properties: Notch-related proteins, cell morphology, adhesion, epithelial-mesenchymal transition (EMT), motility, proliferation and neuroendocrine (NE) features of SCLC.

adhesion


Input: To explore the effects of genetic variation in the PTH pathway, we have analysed variations in PTH, PTHLH, PTHR1 and PTHR2 in relation to bone mass and fracture incidence in elderly women.

bone mass


Input: PURPOSE: Recently, a single-nucleotide polymorphism in the MDM2 promoter (SNP309) has been found to lower the age of onset of tumors and increase the occurrence of multiple primary tumors in Li-Fraumeni syndrome, and accelerate the development of sporadic adult soft tissue sarcoma.

Li-Fraumeni syndrome

sporadic


Input: In this review we will discuss recent progress made in the understanding of the BAFF/APRIL-TACI/BCMA/BAFF receptor system in relation to the recent discovery that mutations in human TACI cause a primary humoral immunodeficiency.

TACI

humoral immunodeficiency


Input: The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults.

GFR

albuminuria


Input: Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.

XNP

Smith-Fineman-Myers syndrome

XNP

Smith-Fineman-Myers syndrome


Input: Reduced dose bolus alteplase vs conventional alteplase infusion for pulmonary embolism thrombolysis. An international multicenter randomized trial. The Bolus Alteplase Pulmonary Embolism Group.

alteplase

pulmonary embolism

alteplase

pulmonary embolism


Input: After drug withdrawal, reemergence of clonal EGFR mutations on extrachromosomal DNA follows.

EGFR

drug withdrawal


Input: We performed a detailed mutation analysis of the p50 subunit of NF-kappaB (NFKB1 gene) in 96 sporadic PD patients.

NFKB1 gene

sporadic


Input: and clinical virilization, while five had hypertension [mean systolic blood pressure (SBP) 130 mmHg, diastolic blood pressure (DBP) 83 mmHg].

DBP

systolic blood pressure


Input: ARNTL rs6486120 T (+) allelic status (P = 0. 0007, q = 0. 17), ADCYAP1 rs2856966 GG genotype (P = 0. 0006, q = 0. 17) and VIP CC haplotype (rs3823082-rs688136) (P = 0. 0006) were suggestively associated with alcohol consumption in socially drinking controls.

VIP

alcohol consumption


Input: To determine the effects of the proinflammatory cytokine combination of oncostatin M (OSM) and tumor necrosis factor alpha (TNFalpha) on cartilage destruction in both in vitro and in vivo model systems.

OSM

cartilage destruction


Input: To address this issue, we studied 2 families, one with Kallmann syndrome (IHH and anosmia) and another with normosmic IHH, in which a single-gene defect had been identified: a heterozygous FGF receptor 1 (FGFR1) mutation in pedigree 1 and a compound heterozygous gonadotropin-releasing hormone receptor (GNRHR) mutation in pedigree 2, both of which varied markedly in expressivity within and across families.

Kallmann syndrome

Kallmann syndrome


Input: Furthermore, TP53 and NF2 gene mutations do not play an important role in the etiology of sporadic pediatric ependymomas.

sporadic


Input: Previously, we reported that hypermethylation of hMLH1 might play an important role in the tumorigenesis of right-sided sporadic CRCs with MSI showing less frequency of KRAS/TP53 alteration.

sporadic


Input: AAV exploits subcellular stress associated with inflammation, endoplasmic reticulum expansion, and misfolded proteins in models of cystic fibrosis.

AAV

inflammation


Input: Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

PHARC

PHARC


Input: These PCR-signals were derived from CD45 (+)-infiltrating leukocytes and not from tumor cells since (I) MMM depleted of CD45 + cells contained no B7-1 or B7-2 mRNA; and (2) by IH, B7-1 and B7-2 were found on infiltrating dendritic cells, macrophages and a variable proportion of tumor-infiltrating lymphocytes (TIL) but not on melanoma cells or nevus cells.

nevus


Input: Assessed against these normal tissue-specific methylation states, S100A6 and S100A10 demonstrated tumour-specific hypermethylation in medulloblastoma primary tumours (5 out of 40 and 4 out of 35, respectively, both 12%) and cell lines (both 7 out of 9, 78%), which was associated with their transcriptional silencing.

medulloblastoma

medulloblastoma


Input: Thus, AEP might be one of the proteinases activated by acidosis triggering neuronal injury during neuroexcitotoxicity or ischemia.

AEP

acidosis


Input: Mucosal hyperemia, after exposure to capsaicin, is mediated by calcitonin gene-related peptide (CGRP) from these neurons, which also contain substance P (SP).

CGRP

hyperemia


Input: Furthermore, the discovered effect of ERLIN2 loss on cell growth may advance understanding of the mechanism behind motor neuron degeneration in PLS.

neuron degeneration

neuron degeneration


Input: A miR-297/hypoxia/DGK-α axis regulating glioblastoma survival.

DGK-α

hypoxia


Input: Our findings suggest that gastric cancer-derived PTX3 promotes macrophage recruitment, which may contribute to gastric cancer-related inflammation.

inflammation


Input: FSH receptor polymorphisms at position 680 were studied in a population of 68 infertile women.

FSH receptor

infertile


Input: The familial cancer syndrome Birt-Hogg-Dube syndrome is characterised by the development of skin (fibrofolliculomas) and renal tumours (and lung cysts) and is caused by mutations in the FLCN tumour suppressor gene.

FLCN

familial cancer


Input: The identified phage-expressed proteins were then used to develop phage protein ELISA to measure matching autoantibodies using 70 HCC patients, 50 chronic hepatitis patients, and 70 normal serum samples.

HCC

chronic hepatitis


Input: Here, we show that the GluR2 gene has an open chromatin configuration in human glioma cells.

glioma


Input: We report the cDNA cloning and characterization of GTT1/StarD7, a novel gestational trophoblastic tumour gene, initially identified by its up-regulated expression in the choriocarcinoma JEG-3 cell line with respect to their nonmalignant counterpart, complete hydatidiform mole and normal trophoblastic tissue.

complete hydatidiform mole


Input: We report a similar translocation of EWS and FLI1 in an Askin' s tumor cell line (SK-NM-C).

EWS

translocation


Input: We have previously demonstrated that breast cancers associated with inherited BRCA1 and BRCA2 gene mutations differ from each other in their histopathologic appearances and that each of these types differs from breast cancers in patients unselected for family history (i. e., sporadic cancers).

BRCA2 gene

sporadic


Input: Regarding the role of IL-19 on the innate immunity and inflammation, interestingly, in vitro studies have shown that lipopolysaccharide can stimulate human monocytes and macrophages to upregulate the expression of IL-19.

inflammation


Input: A mutant SKI defective in transformation fails to increase p53 ubiquitination and is unable to increase MDM2 levels and to increase mono-sumoylation of Ubc9, suggesting that the ability of SKI to enhance Ubc9 activity is essential for its transforming function.

SKI

mono


Input: Our data suggest that variation in CCK may be involved in several anxiety phenotypes and CCKAR may be involved in the development of panic co-morbid with bipolar disorder.

CCKAR

bipolar disorder

CCKAR

bipolar disorder


Input: Importantly, in combination with CMF, anti-CSF-1 Fab reversed chemoresistance of MCF-7 xenografts, suppressing tumor development by 56%, down-regulating expression of the chemoresistance genes breast cancer-related protein, multidrug resistance gene 1, and glucosylceramide synthase, and prolonging survival significantly.

breast cancer

breast cancer


Input: This suggests that there are molecular pathways common to FAD and sporadic AD.

FAD

sporadic


Input: Proportion of reactive airway disease, obstructive pulmonary disease, and pre-existing anxiety disorder or bipolar disorder were significantly increased in persons carrying AAT non-M polymorphisms compared to normal MM genotype (respectively, 10, 20, 21, and 33% compared to 8, 12, 11, and 9%; contingency table, pulmonary: chi2 37, p = 0. 0001; affective disorder: chi2 = 171, p = 0. 0001).

AAT

bipolar disorder

AAT

bipolar disorder


Input: The intronic variant, IVS25 + 15 [G--> A], was significantly associated with blood pressure; GG homozygotes had significantly lower levels of diastolic blood pressure (DBP) (-2. 8 mm Hg; P = 0. 016) and systolic blood pressure (SBP) (-1. 9 mm Hg; P = 0. 018) than A-allele carriers.

DBP

systolic blood pressure


Input: The present study was carried out to investigate the polymorphisms of the position-308 promoter region of the TNF-alpha gene, as well as of the intron 1 of the TNF-beta gene in patients with melioidosis compared with normal uninfected controls in the same endemic area.

alpha gene

melioidosis


Input: Finally, overexpression of either human EAF2 or RBBP4 in LNCaP cells induced the cell death while knockdown of EAF2 in LNCaP enhanced cell proliferation, indicating an important role of EAF2 in controlling the growth and survival of prostate cancer cells.

prostate cancer


Input: Adiponectin protects against myocardial ischemia-reperfusion injury through AMPK-and COX-2-dependent mechanisms.

Adiponectin

myocardial ischemia-reperfusion injury

Adiponectin

myocardial ischemia-reperfusion injury


Input: The BRAF V600E mutation is specifically associated with sporadic MSI + CRCs with methylated MLH1, but is not associated with Lynch syndrome-related CRCs.

BRAF

MSI

BRAF

MSI


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

lung tumor

lung tumor


Input: A possible role for dihydrodiol dehydrogenase in the formation of benzo [a] pyrene-DNA adducts in lung cancer cells and tumor tissues.

dihydrodiol dehydrogenase

tumor


Input: The polymorphisms of genes involved in carcinogen metabolic activation (CYP1A1, CYP2E1), detoxication (GSTM1, GSTT1, GSTM3, NAT2,) and DNA repair (XPD/A35931C-exon 23 and C22541A-exon 6/, XRCC1/G28152A-exon 10 and C26304T-exon 6/, XRCC3/C18067T/) were studied by PCR-based techniques to analyze genotypes and allele distribution in 84 patients with MPT correlated with 182 subjects with a single tumor of head and neck and 143 cancer-free male volunteers recruited from healthy smokers.

tumor of head and neck


Input: Moreover, silencing of PTPN1 by RNA interference in Hodgkin lymphoma cell line KM-H2 resulted in hyperphosphorylation and overexpression of downstream oncogenic targets.

Hodgkin lymphoma

Hodgkin lymphoma


Input: They also suggest that heparanase may play a novel role for COX-2 mediated tumor angiogenesis in breast-cancer progression.

heparanase

breast-cancer

heparanase

breast-cancer


Input: Our findings suggest the following: (1) CD8 + cutaneous T cell lymphoma can be rapidly progressive or chronic.

rapidly progressive


Input: The keloid fibroblasts exhibited increased extracellular matrix gene expression, and prominent elevated type I procollagen mRNA when compared to control fibroblasts cultured from the uninvolved skin of normal people.

type I procollagen

keloid


Input: One mutation (8%), an A to T transversion leading to an amino acid exchange, was found in exon 5 of the p53 gene in a sporadic MPNST.

p53 gene

sporadic


Input: In human skin squamous cell carcinoma (SCC) samples, we found an inverse correlation between Trim32 and Piasy expression supporting a role for Trim32-Piasy interaction in human epidermal carcinogenesis.

Piasy

skin squamous cell carcinoma


Input: Most IRFs regulate the expression of interferon-alpha and-beta after viral infection, but the function of IRF6 remains unknown.

viral infection


Input: Altogether, our results show that S1P induces cardiomyocyte hypertrophy mainly via the EDG1 receptor and subsequently via Gi through ERKs, p38 MAPK, JNK, PI3K and via Rho pathway.

JNK

cardiomyocyte hypertrophy


Input: Fourteen patients met the inclusion criteria, including 5 with lymphoplasmacytic lymphoma (LPL), 3 with chronic lymphocytic leukemia/small lymphocytic lymphoma, 2 with follicular lymphoma (FL), and 4 with low-grade B-cell lymphoma not otherwise specified (LGBCL-NOS).

LPL

follicular lymphoma


Input: Little is known about CHRNA5-A3-B4 and its association with smoking behaviors and weight in Alaska Native people, which is a population with high prevalence but low levels of tobacco consumption, extensive smokeless tobacco use and high rates of obesity.

weight


Input: In postmenopausal women, one SNP (TP53-rs1042522), age, body mass index, age at menopause, serum levels of testosterone, and IGF1 were identified as risk predictors.

body mass index


Input: Patients with relatively silent but invasive bacterial infection should raise suspicion of IRAK-4 immunodeficiency.

IRAK

immunodeficiency


Input: A novel transcript for the thyrotropin-releasing hormone receptor in human pituitary and pituitary tumors.

thyrotropin-releasing hormone receptor

pituitary tumors


Input: Previously, sedentary carriers of a missense mutation of KCNQ1 gene (LQT1, n = 7) and healthy controls (n = 8) exercised on a bicycle ergometer 3-4 times a week, 30 min a day at 60-75% of maximal heart rate (HR) for a maximum of 3 months.

KCNQ1 gene

heart rate


Input: We conclude from these findings that p53 gene mutations in brain neoplasms are primarily limited to tumors of astrocytic origin and that the p53 gene mutations in sporadic astrocytomas are somatic in origin (i. e., nonprenatally determined).

p53 gene

sporadic


Input: We investigated maternal NAT2 phenotype and the interaction with smoking and medication use periconceptionally on orofacial cleft and spina bifida risk in offspring.

smoking


Input: Cox proportional hazards regression model was used to examine the associations of IGF markers with patient survival.

IGF

regression


Input: Patients with a single tumor nodule, less than 5 cm in diameter, no tumor emboli, no daughter nodules and necrosis had relatively better prognosis; patients with euploidy HCC had better prognosis than those with aneuploidy; among the aneuploidy patients those with DI < 1. 5 had better prognosis than the cases with DI > 1. 5; The higher the PCNA-LI, the worse would be the prognosis.

HCC

nodule


Input: Further monitoring included the assessment of complement factors (C3, C4), platelets, fibrinogen, ATIII, and graft histology.

ATIII

fibrinogen


Input: Here we report evidence that mutations in TITF-1 are associated with BHC.

BHC

BHC


Input: Liver-specific PRSS8 knockout (LKO) mice develop insulin resistance associated with the increase in hepatic TLR4.

insulin resistance


Input: We sequenced TP53 exons 2 to 9 in 21 BRCA1-related breast cancers and 37 sporadic breast tumors.

sporadic


Input: To localize and evaluate the expression of ZO-1 in the normal human pancreas, in pancreatic ductal adenocarcinoma (PDAC), and in chronic pancreatitis (CP).

pancreatic ductal adenocarcinoma


Input: To determine whether pterygium is a disorder of abnormal growth by examining the expression of the p53 gene in the conjunctiva of patients with pterygium.

p53 gene

abnormal growth


Input: Statistical analyses indicated that overexpression of the EGFR cascade is significantly correlated to cannabis smoking.

EGFR

cannabis

EGFR

cannabis


Input: To evaluate the possible role of cytokines in human immunodeficiency virus (HIV)-associated muscular disorders, we performed immunocytochemistry for interleukin-1 alpha,-1 beta, and-6 and tumor necrosis factor-alpha on frozen muscle biopsy specimens from HIV-infected patients with various myopathies (HIV polymyositis in 5, HIV-wasting syndrome in 5, zidovudine myopathy in 10) and from seronegative individuals (normal muscle in 2, mitochondrial cytopathies in 10).

tumor necrosis factor-alpha

HIV-wasting syndrome

tumor necrosis factor-alpha

HIV-wasting syndrome


Input: The polymorphic markers RAF1, D3S18, and D3S191 should be useful in identifying asymptomatic gene carriers in VHL families and in guiding efforts at gene isolation.

asymptomatic


Input: Moreover, MSC-mediated Ad-PEDF delivery reduced production of adenovirus-neutralizing antibodies, prolonged PEDF expression, and induced MSCs-PEDF migration toward tumor cells.

MSC

adenovirus


Input: Transcription factors such as USF1/2, JunB, Sp1, and CTCF were found to associate with regulatory regions of the human HO-1 gene in the kidney following rhabdomyolysis.

rhabdomyolysis


Input: Metformin treatment significantly improved hyperandrogenism, menstrual cyclicity, body weight, and insulin resistance independent of GNAS1 genotype.

body weight


Input: Rats (n = 60) received sham-operation (sham), 5 days hyperammonaemia-inducing diet (HD), galactosamine (GALN) induced acute liver failure (ALF), 4 weeks bile duct-ligation (BDL) induced cirrhosis, or caecal ligation and puncture (CLP), a 24h model of bacterial peritonitis.

ALF

bacterial peritonitis


Input: Here we show that subjects with the MODY3-form of NIDDM have mutations in the gene encoding hepatocyte nuclear factor-1alpha (HNF-1alpha, which is encoded by the gene TCF1).


Input: Furthermore, in normal human kidney tissue, endogenous SLC41A1 specifically localized to renal tubules situated at the corticomedullary boundary, consistent with the region of cystogenesis observed in NPHP and related ciliopathies.

NPHP

NPHP


Input: Thus, in ureter development, the absence of CK15 is associated with a structurally simplified urothelium whereas, postnatally, increased CK15 levels feature in malignant urothelial overgrowth.

overgrowth


Input: CONCLUSION: This suggests a pivotal role for IL-8/CXCL8 in periapical disease because of its ability to induce chemotaxis and modulating the directed migration of neutrophils to the site of inflammation in response to microbial infection of pulp.

periapical disease


Input: The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patients with primary dRTA from nine unrelated kindreds.

dRTA

dRTA


Input: The purpose of our study was to evaluate the expression and correlation of heparanase and VEGF in hypoxia-induced retinal neovascularization.

heparanase

retinal neovascularization


Input: The mRNA levels of several genes were significantly increased in autism, including excitatory amino acid transporter 1 and glutamate receptor AMPA 1, two members of the glutamate system.

excitatory amino acid transporter 1

autism

excitatory amino acid transporter 1

autism


Input: Our aim was to find polymorphisms in the TNFSF11 gene promoter and to investigate their possible association with bone mineral density (BMD).

TNFSF11 gene

bone mineral density


Input: This frequency of seizure-associated PSEN1 mutations may be an underestimate, as epileptic seizures may not be recognized as such in the context of a dementing disorder, perhaps being labeled as " confusion " or delirious episodes.

delirious


Input: Our present study highlights the importance of SP1/SP3 activity for CAIX expression and provides additional evidence for distinct mechanisms responsible for true and mild hypoxia-induced CAIX expression.

hypoxia


Input: Flow cytometry analysis indicated that ARHI blocked cell cycle progression at the G1 phase in pancreatic cancer cells.

ARHI

pancreatic cancer


Input: Identification of a transforming MYB-GATA1 fusion gene in acute basophilic leukemia: a new entity in male infants.

acute basophilic leukemia

acute basophilic leukemia


Input: On the basis of these results, the clinical occurrence of amylase-producing cancer likely relates to the tissues expressing the AMY1 gene, while the AMY2B gene, which evolutionarily is the oldest gene among human amylase isogenes, is constitutively expressed in various tissues.

AMY2B gene

cancer


Input: In a rat model of transient global ischemia, AIF was found to translocate from mitochondria to the nucleus in the hippocampal CA1 neurons after ischemia and to manifest a DNA-degrading activity that mimicked the purified AIF protein and was inhibitable by AIF immunodepletion.

ischemia


Input: Transcriptional activation of steroidogenic factor-1 by hypomethylation of the 5' CpG island in endometriosis.

steroidogenic factor-1

endometriosis

steroidogenic factor-1

endometriosis


Input: TNF-α induced NFκB p65 translocation and VCAM-1 promoter activity were not altered by roflumilast in SMCs.

TNF-α

translocation


Input: As susceptibility to sudden cardiac death is considered to be a heritable trait in general population, we have therefore investigated whether potentially functional variants of genes encoding RyR2 (ryanodine receptor 2) and the L-type Ca2 + channel are related to the risk of ventricular arrhythmias and sudden cardiac death in CHF (chronic heart failure) in a case-control study.

chronic heart failure


Input: Injections of IL-4 or IL-10 significantly inhibited TNBS-induced colon tissue damage, disease activity index (DAI) and body weight loss compared to the control mice.

body weight loss

body weight loss


Input: A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.

translocation


Input: MPO-positive cell number was tightly linked to dysplasia in aberrant crypt foci and adenomas, and it was higher in carcinomas microsatellite unstable than those microsatellite stable (21. 6 +/-15. 5 versus 11. 9 +/-8. 0; P < 0. 01).

MPO

aberrant crypt foci


Input: Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

May-Hegglin anomaly

May-Hegglin anomaly


Input: A decade after the first description of IL-2-deficient mice, the redundancy of IL-2 as a T cell growth factor is well accepted and the focus of research has shifted to the unexpected multiorgan autoimmunity and inflammation observed in mice lacking components of the IL-2/IL-2R system.

inflammation


Input: Highly liver-specific heme oxygenase-1 induction by interleukin-11 prevents carbon tetrachloride-induced hepatotoxicity.

heme oxygenase-1

liver

heme oxygenase-1

liver


Input: In the older obese vs older lean children: (1) CB1 Pr was decreased, (2) FAAHmRNA and DAGL-alpha mRNA were increased.

DAGL-alpha

obese


Input: We have demonstrated the antiproliferative activity of Gleditsia sinensis fruit extract (GSE) on various human solid tumour cancer cell lines as well as leukaemia cell lines and primary cultured leukaemia cells obtained from leukaemia patients.

GSE

leukaemia


Input: This study aimed to investigate the effects of polymorphisms of the flavin-containing mono-oxygenase 3 (FMO3) and flavin-containing mono-oxygenase 6 (FMO6) genes on the pharmacokinetics of sulindac sulfide, the active metabolite of sulindac, in patients with preterm labor.

mono


Input: Further investigation of molecular characterization of this NUP98 translocation and interaction with 6p23 abnormalities might be worthwhile for understanding leukemogenesis.

translocation


Input: Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.

Crigler-Najjar syndrome type 2

Crigler-Najjar syndrome type 2


Input: Our findings suggest that TLR4/MyD88/NF-& #954; B signaling and PPAR-& #947; within the PVN are involved in the beneficial effects of telmisartan in hypertension.

hypertension

hypertension