Input: Tissue concentration of 7B2, pro-opiomelanocortin products (joining peptide and beta-endorphin) were measured in 13 pituitary corticotrophic adenomas and 13 non-pituitary tumours associated with the ectopic ACTH syndrome (five out of 20 bronchial carcinoid tumours, two out of 19 phaeochromocytomas, one out of 11 medullary thyroid carcinomas, three pancreatic and two thymic carcinoid tumours).

carcinomas


Input: Thus our data suggest that Akt2/B23 functions as an oncogenic unit to drive tumorigenesis of A549 lung cancer cells.

lung cancer


Input: Using surface markers, we have previously isolated a population of surface IgM-IgD + CD38 + GC B cells that carry the most impressive somatic mutation in their IgV genes.

somatic mutation


Input: Mice deficient in basic fibroblast growth factor-2 (FGF-2) showed reduced induction of HGF protein in ischemic muscles, and overexpression of FGF-2 via gene transfer stimulated endogenous HGF, irrespective of the presence of ischemia.

HGF

ischemia


Input: In addition, tumors with conditional inactivation of both Brca1 (LoxP/LoxP) and p53 (LoxP/LoxP) exhibited greater genomic instability compared to an ovarian tumor with inactivation of only p53 (LoxP/LoxP).

genomic instability


Input: We describe a family with erythrocytosis and a mutation in the HIF2A gene, which encodes the HIF-2alpha protein.

erythrocytosis


Input: We found down regulation in mir-17p, mir-126, mir-335, mir-30b and also TIMP3, TMP1 and PDCD4 genes in the cancer tissue compared to the adjacent non-neoplastic tissues.

non-neoplastic


Input: In primary ovarian cancers, CGIs of GPR150 (in 4 of 15 cancers), ITGA8 (2/15), PRTFDC1 (1/15), and HOXD11 (1/15) were methylated.

cancers


Input: Collagen XVII (BP180) is a hemidesmosomal transmembrane component that has been hypothesized to participate in keratinocyte adhesion and motility.

adhesion


Input: These genotype-phenotype correlations may facilitate molecular diagnosis and classification of PSACH and MED, and provide insight into the relationship between structure and function of the COMP gene product.

COMP

PSACH

COMP

PSACH


Input: We compared the FTO gene expression in subcutaneous adipose tissue and peripheral blood mononuclear cells (PBMCs) between overweight and normal weight individuals.

FTO gene

overweight


Input: Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice.

Fanconi anemia complementation group D2

Fanconi anemia complementation group D2


Input: Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty.

DAZ

male sterility


Input: We investigated the mechanisms by which interleukin-10 (IL-10) regulates antigen-specific hyporesponsiveness in asymptomatic microfilaremic (MF) individuals.

asymptomatic


Input: In conclusion, unbalanced MMP/TIMP-1 expression and excessive gelatinolytic activity contribute to PQ-induced pulmonary fibrosis.

pulmonary fibrosis

pulmonary fibrosis


Input: A relationship between these chromosomal aberrations and amplification of c-myc DNA has been suggested.

c-myc

chromosomal aberrations


Input: The t (12; 21) (p13; q22) translocation resulting in ETV6/RUNX1 (previously named TEL/AML1) gene fusion is present in about 25% of children with precursor B-lineage acute lymphoblastic leukemia (B-ALL).

translocation


Input: Altogether, these results described a new molecular mechanism connexin 43-dependent targeted by griseofulvin leading to apoptosis of human germ cell tumor cells.

connexin 43

germ cell tumor


Input: Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.

juvenile myoclonic epilepsy


Input: We then constructed recombinant adenovirus vectors, AdTTF-1 and ADTGTK: AdTTF-1 contained cytomegalovirus promoter and rat TTF-1 cDNA; AdTGTK carried the TG promoter-driven HSV-TK gene.

cytomegalovirus


Input: Translocation t (12; 16) (q13; p11) is regarded as a diagnostic marker for myxoid liposarcoma.

myxoid liposarcoma


Input: Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities.

growth retardation


Input: Subjects older than 60 years with normal cognition, MCI or AD were enrolled from the memory clinic from 2000 to 2008.

MCI

normal cognition


Input: Colorectal cancer (CRC) cell lines displaying microsatellite instability (MSI) are resistant to 5-fluorouracil (5-FU) in vitro, which can be overcome by restoring DNA mismatch repair (MMR) competence.

MMR

microsatellite instability


Input: The STRAD gene, encoding an LKB1 interacting protein that activates LKB1, which subsequently leads to polarisation of cells, is an interesting candidate for a second PJS gene and a potential tumour suppressor gene in sporadic carcinomas.

STRAD

sporadic


Input: However, Bcl-2-positive neoplastic cells were present in all four cases of systemic follicular lymphoma, including the case that did not show a t (14; 18) translocation.

translocation


Input: DDX3 expression was investigated by immunohistochemistry in breast cancer in comparison with hypoxia related proteins HIF-1α, GLUT1, CAIX, EGFR, HER2, Akt1, FOXO4, p53, ERα, COMMD1, FER kinase, PIN1, E-cadherin, p21, p27, Transferrin receptor, FOXO3A, c-Met and Notch1.

FER

hypoxia


Input: In the current study, to elucidate the clinical significance of and atherogenicity in marked HALP, we determined the incidence of atherosclerotic cardiovascular disease (ACD) in patients with marked HALP and characterized the lipoprotein abnormalities in those who had ACD, focusing especially on CETP and HTGL.

HTGL

abnormalities


Input: Expression of HSD17B2 was 3. 0-fold increased, and expression of SRD5A2 was 3. 7-fold decreased, in EC versus adjacent control endometrium.

EC

EC


Input: We hypothesized in humans that increased collagen VI alpha3-subunit (COL6A3) mRNA is associated with adipose tissue macrophage chemotaxis and inflammation and that weight gain is accompanied by changes in the expression of COL6A3.

inflammation


Input: We assessed the expression of apoptosis genes (GSK3-B, AKT-1, Bcl-2), inflammatory cytokines (TNFalpha, TNF-RI, TNF-RII, IL-6, IL-6R), anti-inflammatory IL-10, CRP and alphaFP by reverse transcription-polymerase chain reaction (RT-PCR) in 33 HCC, 25 chronic hepatitis and 16 asymptomatic HCV carrier positive for HCV subjects.

asymptomatic


Input: Peripherally administered GM-CSF interferes with scopolamine-induced amnesia in mice: involvement of interleukin-1.

GM-CSF

amnesia

GM-CSF

amnesia


Input: We report here a new erythrocytosis-associated mutation, p. Asp539Glu, in the HIF2A gene.

erythrocytosis


Input: This case suggests that marijuana smoking may increase the risk of arterial thrombosis in otherwise healthy individuals who are heterozygous for factor V Leiden.

factor V Leiden

arterial thrombosis


Input: Compared to the PRISM HBsAg and HBsAg Prototype 1 assays, the HBsAg Prototype 2 assay detected two additional samples of 32 HBV DNA-positive samples obtained from blood donors with occult HBV and one of seven from blood donors with early window period infections.

PRISM

infections


Input: The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients.

MEFV

FMF

MEFV

FMF


Input: Thus, relapses of MAC lung disease with these macrolide regimens are unusual, and most infections after completing therapy resulted from new strains in patients with nodular bronchiectasis.

MAC

infections


Input: Identification of human asparaginyl endopeptidase (legumain) as an inhibitor of osteoclast formation and bone resorption.

legumain

bone resorption


Input: Initially, we examined the transfection of' naked' human HGF plasmid into a rat hindlimb ischemia model.

HGF

ischemia


Input: In addition, we report the presence of pigmented skin lesions in PRKAR1A and PDE4D patients, a feature not yet described in the acrodysostosis entity.

skin lesions


Input: This study indicates that abnormal liver function and chronic liver disease are associated with DMF exposure, and there are more than multiplicative interaction effects on abnormal liver function tests between the DMF exposure and the GSTT1 genotype.

abnormal liver function


Input: Multivariate regression modelling was applied to assess the association of T4 dosing with polymorphisms in UGT1A1 (rs8175347), UGT1A3 (rs3806596 and rs1983023), DIO1 (rs11206244 and rs2235544) and DIO2 (rs225014 and rs12885300), demographic and clinical variables.

regression


Input: Clinicopathological and epidemiological analysis of patients showed that the abnormal FHIT transcripts were not associated with age, tumor-node-metastasis classification, tumor size, estrogen receptor and progesterone receptor status, local metastasis, family history of breast cancer, or lifestyle factors of patients, including cigarette smoking and alcohol consumption.

FHIT

alcohol consumption


Input: To analyze the in vivo biological effect of anti-interferon beta (IFN-beta) neutralizing antibodies (NABs), blood concentrations of neopterin, beta2microglobulin (Beta2-MG), mRNA-dependent myxovirusresistant protein A (MxA) and dsRNA-dependent protein kinase (PKR) were measured before (predose) and 24 hours after (postdose) IFN-beta administration in 49 patients with multiple sclerosis (MS) with (n = 25) and without (n = 24) NABs.

multiple sclerosis


Input: Similarly, in a subgroup analysis of clinical manifestation of lupus nephritis (LN), no significant differences were found between the non-LN group and the LN group (G/G vs. A/G vs. A/A: χ (2) = 0. 611, p = 0. 631; G vs. A: χ (2) = 0. 411, p = 0. 521). These findings suggest that the IRF4 gene polymorphism is not associated with SLE in a Chinese Han population; further studies are needed to establish the role of IRF4 in SLE with a larger sample size.

lupus nephritis


Input: The 15-Hz flicker ERG abnormalities found in patients with mutations in GPR179 more closely resemble those from patients with mutations in either TRPM1 or NYX than in GRM6.

ERG

abnormalities


Input: ),-21,-22 [20]/idemx2 [5] and displays known, chordoma-typical genetic changes, such as chromosomal gains at T/brachyury locus (6q27), losses at 9p24. 3-p13. 1 (includes the CDKN2a/CDKN2b locus), 10p15. 3-q23. 32 (includes the PTEN locus) and losses of 10q25. 2 (includes the PDCD4 locus).

chordoma


Input: Here, we hypothesized that BA may also act as a ligand for AhR and possibly regulate the melanogenic pathway to induced hyperpigmentation.

AhR

hyperpigmentation

AhR

hyperpigmentation


Input: The expression of the transcription factors ATF-1 and CREB is upregulated in metastatic melanoma cells.

CREB

metastatic melanoma


Input: Deletions encompassing ABL-BCR were detected in 37% of patients, consistent with a model in which a greater number of chromosome breaks increases the risk of genomic loss.

BCR

chromosome breaks


Input: In order to define genetic determinants of primary and metastatic melanoma cell susceptibility to tumor necrosis factor-related apoptosis-inducing ligand (TRAIL), we have applied oligonucleotide microarrays to TRAIL-sensitive primary T1 cells and TRAIL-resistant metastatic G1 cells treated or not with TRAIL.

TRAIL

metastatic melanoma


Input: Mismatch-repair (MMR) immunohistochemistry is used to detect tumor MMR deficiency associated with high-level microsatellite instability (MSI).

MMR

microsatellite instability


Input: Clinical and neuroimaging findings are important clues to raise suspicion and to reach diagnostic accuracy for RARS2 mutations considering that biochemical abnormalities may be absent in muscle biopsy.

abnormalities


Input: Together, these results indicate that activation of a RASAL2/ARHGAP24/RAC1 module contributes to TNBC tumorigenesis and identify a context-dependent role of RASAL2 in breast cancer.

tumorigenesis


Input: Furthermore, a correlation was found between aggressiveness of these cell lines and expression of WAVE3.

aggressiveness


Input: Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.

familial atrial fibrillation

familial atrial fibrillation


Input: Moreover, we demonstrate that ING4 suppression in MM cells up-regulated IL-8 and OPN, increasing the hypoxia inducible factor-1alpha (HIF-1alpha) activity and its target gene NIP-3 expression in hypoxic condition.

NIP

hypoxic


Input: AAV-HGFK1 significantly inhibited osteolytic bone metastasis and prolonged the survival of mice in this model (P < 0. 01).

AAV

bone metastasis


Input: Pak1 in the cytoplasm was an independent prognostic marker, indicating increased recurrence rate (HR, 1. 79; 95% CI, 1. 17-2. 74; P = 0. 0068) and breast cancer mortality (HR, 1. 98; 95% CI, 1. 14-3. 46; P = 0. 016) for patients randomized to no adjuvant treatment.

breast cancer

breast cancer


Input: We assessed the association of a genetic variation of LRP1 (663C > T) with basal FVIII levels and the risk of venous thrombosis in a group of high-risk patients and in healthy controls.

venous thrombosis


Input: Among them, miR-182 related to the insulin resistance by modulating FOXO1 and PI3K/AKT cascade and had the greatest copy number in the whole blood.

insulin resistance


Input: Implication of tyrosine kinase receptor and steel factor in cell density-dependent growth in cervical cancers and leukemias.

steel factor

leukemias


Input: The purpose of the present study was to analyze the relation between the expression of p53, bcl-2, p21WAF1, MIB-1, HER-2/neu, DNA ploidy and HPV16 or 18 infections with clinical parameters.

infections


Input: Differentially upregulated genes in ulcerative colitis included serum amyloid A1 (SAA1) (p < 10 (-45)) the alpha defensins 5 and 6 (DEFA5 and 6) (p = 0. 00003 and p = 6. 95x10 (-7), respectively), matrix metalloproteinase 3 (MMP3) (p = 5. 6x10 (-10)) and MMP7 (p = 2. 3x10 (-7)).

ulcerative colitis


Input: These results suggest that, the absence of C-1-INA, may, by itself trigger the dissociation and autoactivation of C1 in the sera of such patients; however, the presence of other complement activators accelerates the reaction.

dissociation


Input: The COMT polymorphism rs165599 and the BDNF polymorphism rs10835211 were found to predict dysphagia and have an interactive effect (p = 0. 028), which varied according to the carrier status of the other.

COMT

dysphagia


Input: We found four different PAX8 mutations (p. R31C, p. R31H, p. R108X, and p. I47T) in ten patients (six patients with CH and four family members), two with sporadic and eight with familial diseases.

sporadic


Input: Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress.

PAP

respiratory distress


Input: Analysis in 53 tumors confirmed the presence of 7 variants of this fusion transcript in 29 tumors (55%), representing a lower bound for fusion frequency at this locus and suggesting that the NAB2-STAT6 fusion is a distinct molecular feature of SFTs.

SFT

SFT


Input: Mdr2 (-/-) IKK2 (Hep-KO) mice remarkably recapitulate chronic liver failure in humans and might be of special importance for the study of the mechanisms contributing to the pathogenesis of end-stage chronic liver disease or its implications on other organs.

chronic liver failure

chronic liver failure


Input: This GWAS identified two loci involved in sporadic DCM, one of them probably implicates BAG3.

sporadic


Input: Although gadolinium and NER (plaque) correlated well for both techniques, the NER of plaque was higher for inversion-recovery fast spin echo than for fast spin echo.

NER

plaque


Input: Taken together our results indicate that bcl-2 plays an important role in melanoma angiogenesis, and that VEGF mRNA stabilization and HIF-1-mediated transcriptional activity are two important control points in bcl-2/hypoxia-induced VEGF expression.

VEGF

hypoxia


Input: In vitro, overexpression and knockdown of Beclin proteins were performed on an oral cancer cell line, SAS.

SAS

oral cancer


Input: Furthermore, gastric acid suppression and potential enhancement of platelet aggregation may contribute to the beneficial outcome after treatment of oesophageal varices with somatostatin.

somatostatin

oesophageal varices

somatostatin

oesophageal varices


Input: Hydrogen peroxide induced S100A4 oxidation in MKN-45 gastric adenocarcinoma cells and decreased S100A1‑PP5 interaction, resulted in the inhibition of PP5 activation by S100A1.

gastric adenocarcinoma


Input: Immunohistochemistry for DNA MMR showed loss of at least 1 protein in 9 of 54 cases (16%) with slight predominance of MSH2/MSH6 abnormalities (5 of 9) compared with loss of MLH1/PMS2.

abnormalities


Input: These data demonstrated an association between rs929387 of GLI3 and non-syndromic tooth agenesis in Chinese Han individuals.

tooth agenesis


Input: The goal of this article is to describe the presence of myofibroblasts in HGF in order to elucidate the mechanisms underlying HGF gingival overgrowth.

HGF

gingival overgrowth


Input: One of the mechanisms for this effect is the inhibition of cytokine-induced bone resorption, which is mediated in part through an interaction between the estrogen receptor (ER) and nuclear factor (NF)-kappaB in osteoblasts.

estrogen receptor

bone resorption


Input: Finally, silencing Rev7 in primary hematopoietic cells impaired progenitor function, suggesting that the DNA repair defect underlies the development of BMF in FA.

FA

FA


Input: In tumors where only central parts express hypoxia-induced VEGF-A, the larger angiogenic isoforms are retained by extracellular matrix, leaving only freely diffusible VEGF-A (121) to exert its dilatation effects on distant vessels.

VEGF-A

hypoxia


Input: Logistic regression was performed to investigate the association of smoking and selected susceptibility variants in the LT pathway including ALOX5AP, LTA4H, LTC4S, PON1, and LTA as well as CYP1A1 on CAD risk while controlling for age, gender, BMI, family history, diabetes, hyperlipidemia, and hypertension.

smoking


Input: Hypothalamic neurons that express neuropeptide Y (NPY) and agouti-related protein (AgRP) are thought to be critical regulators of feeding behavior and body weight.

NPY

body weight


Input: The expression of all other cytokines (LIF, IL-11, CNTF) and receptors (IL-6-R, LIF-R, IL-11-R, OSM-R, CNTF-R) was found in different patterns in the adenoma subtypes and normal pituitaries.

OSM

adenoma


Input: These results indicate that PALB2 is a breast cancer susceptibility gene that, in a suitably mutant form, may also contribute to familial prostate cancer development.

breast cancer

breast cancer


Input: Our in silico mutagenesis and modeling analysis suggest that the GGM genetic variations lead to conformational changes either by structure destabilization or by formation of unnecessary interaction within the core structure of SGLT1 thereby explaining the genetic defects in Na (+) dependent sugar translocation across the cell membrane.

translocation


Input: In this study, we investigated the functional significance of a TF, Yin Yang1 (YY1) in tumorigenesis of endometrioid endometrial carcinoma (EEC).

endometrial carcinoma


Input: In response to tumor development, cells initially undergo invasion and metastasis followed by epithelial-mesenchymal transition (EMT, a process by which cells acquire motility) and overriding senescence (an endogenous defense mechanism against tumor progression).

EMT

tumor progression


Input: Of importance, no cerebral edema or destruction of the blood-brain barrier was observed in rats transfected with the HGF gene.

HGF gene

cerebral edema


Input: The oxygen-regulated α-subunit of hypoxia-inducible transcription factor-1 (HIF-1α) represents a key mechanism involved in the transcriptional regulation of VEGF.

VEGF

hypoxia


Input: Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.

SUOX

sulfite oxidase deficiency

SUOX

sulfite oxidase deficiency


Input: Here, we report the overexpression of CD4 (+) and CD8 (+) T cell PD-1 and elevated serum levels of soluble PD-1 in aplastic anemia (AA) patients.

anemia


Input: Both monostotic fibrous dysplasia and McCune-Albright syndrome are sporadically occurring disorders in which a mutation in the GNAS1 gene occurs postzygotically in a somatic cell.

monostotic fibrous dysplasia

monostotic fibrous dysplasia


Input: The study population comprised of 163 adolescents (95 boys and 68 girls) and their parents (97 men and 96 women). We used multivariable-adjusted logistic regression analysis, and classification and regression tree (CART) analysis incorporating both the genetic (ADRB2 R16G genotype) and environmental (overeating, smoking status, and parent' s obese status) variables.

overeating


Input: Expression of the genes coding for hyaluronan synthase 1 (HAS1), HAS2, HAS3, CD44, fibroblast growth factor-2 (FGF-2), and FGF receptor-1 (FGFR-1) and the histological evidence for increases of HA and CD44 were investigated in an experimental rat model of cardiac hypertrophy.

FGF receptor

cardiac hypertrophy


Input: It is not clear whether there is a causal relationship between the NRXN1 deletion and gonadal dysgenesis, but it is of interest that the FSHR gene, which encodes the follicle-stimulating hormone receptor causative correlation that is mutated in ovarian dysgenesis, is located proximal to the NRXN1 gene.

NRXN1 gene

ovarian dysgenesis


Input: Serum analysis using immunoprecipitation and MALDI/TOF MS system can provide useful information when investigating FAP patients with diverse types of variant TTR.

TTR

FAP

TTR

FAP


Input: A recessive homozygous p. Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

SDHD

mitochondrial complex II deficiency

SDHD

mitochondrial complex II deficiency


Input: Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.

3-hydroxy-3-methylglutaryl CoA lyase

HL) deficiency

3-hydroxy-3-methylglutaryl CoA lyase

HL) deficiency


Input: A novel human leukaemia cell line, designated TMD7, was established from blast cells of a patient with de novo acute myeloblastic leukaemia with trilineage myelodysplasia (AML/TLD).

TLD

myelodysplasia


Input: However, the role of KIF26B during tumorigenesis and progression is limited.

tumorigenesis


Input: P311 is an 8-kDa intracellular protein that is highly conserved across species and is expressed in the nervous system as well as in vascular and visceral smooth muscle cells.

nervous system


Input: In the CHB groups, the levels of IFN-gamma in the supernatants of PBMCs stimulated by HBcAg alone were lower than both those stimulated by HBcAg and IL-18 at various concentrations and those stimulated by HBcAg and IL-18 (5. 0 ng/ml) together with IL-12 (mild: t = 2. 20, P < 0. 05; moderate: t = 2. 97, P < 0. 05; severe: t = 0. 66, P > 0. 05).

mild


Input: SMAD1/5/8 phosphorylation and in parallel hepcidin mRNA expression were increased in anemia of chronic disease but significantly down-regulated in anemia of chronic disease with concomitant iron deficiency, either on the basis of phlebotomy or dietary iron restriction.

anemia of chronic disease


Input: Human IL-21 + IFN-γ + CD4 + T cells in nasal polyps are regulated by IL-12.

nasal polyps


Input: Evaluation of polymorphisms in the sulfonamide detoxification genes NAT2, CYB5A, and CYB5R3 in patients with sulfonamide hypersensitivity.

hypersensitivity


Input: MiR-132, miR-15a and miR-16 synergistically inhibit pituitary tumor cell proliferation, invasion and migration by targeting Sox5.

pituitary tumor


Input: To test if TLR4 functions as a true receptor for DAMP, we compared TLR4 (pos)-and TLR4 (neg)-responders in vitro and in vivo after stimulation with whole necrotic cell (NC) lysates.

necrotic


Input: A novel missense mutation in GJB2, p. Tyr65His, causes severe Vohwinkel syndrome.

Vohwinkel syndrome

Vohwinkel syndrome


Input: In the present study, we evaluated the effects of PTHrP and/or dihydrotestosterone (DHT) treatment on DNA synthesis by thymidine incorporation in androgen-dependent (LnCaP) and androgen-independent (PC3) human prostate adenocarcinoma cell lines.

prostate adenocarcinoma


Input: SOX2 promotes tumorigenesis and increases the anti-apoptotic property of human prostate cancer cell.

tumorigenesis


Input: Mutations in CSF3R are common in patients with CNL or atypical CML and represent a potentially useful criterion for diagnosing these neoplasms.

CNL

CNL


Input: Our results show, that the exposure of three metastatic melanoma cell lines (A2058, SK-Mel-5, and WM-266-4) to recombinant TIMP-3, N-terminal MMP inhibitory domain of TIMP-3, as well as to adenovirally expressed TIMP-3 results in stabilization of tumor necrosis factor receptor-1 (TNF-RI), FAS, and TNF-related apoptosis inducing ligand receptor-1 (TRAIL-RI) on melanoma cell surface and sensitizes these cells to apoptosis induced by TNF-alpha, anti-Fas-antibody and TRAIL.

TRAIL

metastatic melanoma


Input: Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: We identified a significant change of FGF2 expression in the FDM eyes but FGF2 genetic variants are unlikely to influence susceptibility to myopia.

myopia


Input: Therefore, polymorphisms in NER genes may modify the relationship between breast cancer and smoking.

NER

smoking


Input: The adhesion rate of DPPIV-transfected SKOV3 (SKDPIV) cells to fibronectin-coated plates was significantly higher than SKOV3 cells, while there was no difference in the adhesion rate to non-coated plates between SKDPIV and SKOV3 cells.

DPPIV

adhesion


Input: Penetrance for MTC is 52% by age 30 and 83% by age 50, for pheochromocytoma penetrance is 20% by age 30 and 67% by age 50, and for HPT penetrance is 3% by age 30 and 21% by age 50.

HPT

pheochromocytoma


Input: We found that FTO in men and MMP2 in women are associated with weight gain over a 10-year follow-up period.

FTO

weight gain

FTO

weight gain


Input: These findings suggest stage-dependent dual roles of ASC in tumorigenesis.

ASC

tumorigenesis


Input: Autoantibodies against aromatic L-amino acid decarboxylase (AADC) are present in about 50 percent of sera from patients with autoimmune polyendocrine syndrome type I (APS I) but absent in sera from patients with different organ-specific autoimmune diseases, such as insulin-dependent diabetes mellitus, Hashimoto' s thyroiditis, and Graves' disease.

AADC

autoimmune diseases


Input: Our results demonstrated that miR-424 was involved in tumorigenesis of HCC at least in part by suppression of c-Myb.

c-Myb

tumorigenesis


Input: The purpose of this study was to investigate the clinicopathological significance of PLK1 expression in malignant glioma.

malignant glioma

malignant glioma


Input: No mutations were found in the coding region of GDNF in DNA samples from 9 RET mutation negative MEN 2 individuals (comprising 6 distinct families), 12 sporadic MTCs, 17 sporadic cases of parathyroid adenoma, and 10 small cell lung cancer cell lines.

GDNF

parathyroid adenoma


Input: We also looked at the expression of thymic stromal lymphopoietin (TSLP) in giant papillae of patients with vernal keratoconjunctivitis and examined whether the as Toll-like receptor 3 ligand polyinosinic: polycytidylic acid (poly I: C) can induce expression of TSLP in cultured human conjunctival epithelial cells.

Toll-like receptor 3

giant


Input: RPS6KB1 and CDC2 overexpression is common in DLBCL.

DLBCL

DLBCL


Input: 56 SD rats were randomly divided into 7 equal groups: CLP group (undergoing cecal ligation and puncture so as to cause septic shock), CLP + ISO-1 group (ISO-1, was injected before and after CLP), CLP + MIF antibody group (MIF-Ab was injected before and after CLP), CLP + dexamethasone (DEX)-1, 5, and 20 groups [I, 5, or 20 mg/kg was injected 1 h after CLP), and sham operation group.

MIF

septic shock


Input: LPCAT1 protein was significantly upregulated in primary breast carcinoma and showed a significant ascending pattern being the lowest in normal breast tissues, relatively increased in fibrocystic disease, and the highest in primary carcinoma.

primary carcinoma


Input: We investigated 52 PMD and 28 SPG families without large PLP duplications or deletions by genomic PCR amplification and sequencing of the PLP gene.

PLP

PMD

PLP

PMD


Input: We report a female infant with a karyotype of 46, XX, der (9) t (9; 18) (p22. 2; q21. 32) pat and the phenotypic features of craniofacial dysmorphisms, developmental delay, hypotonia, horizontal nystagmus, strabismus, congenital heart defects, clubfoot, and anorectal malformations with an anterior ectopic anus and a stenosed anal opening.

pat


Input: Unlike other hemophilias, bleeding tendency varies considerably among individuals, and FXI deficiency rarely manifests as spontaneous bleeding.

FXI

bleeding


Input: The growth regulation of mammary tumor cells controlled by VAPB appears to be mediated, at least in part, by modulation of AKT activity.

VAPB

mammary tumor


Input: A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.

mild


Input: The prognosis of H. pylori-negative and API2-MALT1 translocation-negative low-grade MALT lymphoma is unknown, and a standard treatment for such lymphoma has yet to be defined.

translocation


Input: Coupling of early response gene expression to distinct regulatory pathways during alpha-interferon and phorbol ester-induced plasmacytoid differentiation of B chronic lymphocytic leukaemia cells.

early response gene

chronic lymphocytic leukaemia


Input: Our case of growth restriction, premature pubarche and insulin resistance in the absence of body asymmetry or other features of SRS adds to the expanding phenotype of IGF2/H19 methylation abnormalities.

insulin resistance


Input: Finally, tensin is rapidly cleaved by a focal-adhesion protease, calpain II.

tensin

adhesion


Input: Expression of FHIT in primary cultures of human epithelial ovarian tumors and malignant ovarian ascites.

FHIT

ascites


Input: We describe new presenting features in patients with GLIS3 mutations, including craniosynostosis, hiatus hernia, atrial septal defect, splenic cyst, and choanal atresia and confirm further cases with sensorineural deafness and exocrine pancreatic insufficiency.

hiatus hernia


Input: Expression of MCP-1, RANTES, MIP-1 alpha, MIP-1 beta, IP-10 and Mig was demonstrated in all Hashimoto' s and most Graves' thyroid specimens but very little expression was detected in the nonautoimmune goitre samples.

goitre


Input: Enhanced renal vitamin-K-dependent gamma-glutamyl carboxylase activity in experimental rat urolithiasis.

gamma-glutamyl carboxylase

urolithiasis

gamma-glutamyl carboxylase

urolithiasis


Input: Furthermore, TGF-beta efficiently antagonizes the IL-6 induction of fibrinogen mRNA at late (12-48 h) but not early (6 h) times: this effect is apparently mediated by posttranscriptional mechanism (s).

TGF-beta

fibrinogen


Input: All studies on imaging techniques for the diagnosis of breast cancer indicated that screening MRI had the highest sensitivity (between 77% and 100%).

MRI

breast cancer


Input: Other newly identified pathways and components recurrently mutated in ccRCC included PI3K-AKT-mTOR signaling, the KEAP1-NRF2-CUL3 apparatus, DNA methylation, p53-related pathways and mRNA processing.

ccRCC

ccRCC


Input: PHD3 was upregulated in well-differentiated human tumours and cell lines, and regulated hypoxic VEGF secretion.

VEGF

hypoxic


Input: We show that FK866 induces a translational arrest in leukemia cells through inhibition of MTOR/4EBP1 signaling and of the initiation factors EIF4E and EIF2A.

leukemia


Input: Using a multivariate model we observed that the increase (10%) of genomic DNA methylation in patients with alcoholism was significantly associated with their lowered DNMT-3b mRNA expression (multiple linear regression, p = 0. 014).

DNMT

alcoholism


Input: The liver expression of mRNA of VEGF-165, VEGF-189 and KDR was higher in HCC than in chronic liver diseases (1. 54 +/-0. 89 vs 0. 62 +/-0. 47, P < 0. 0001; 1. 09 +/-0. 65 vs 0. 64 +/-0. 54, P = 0. 003; 1. 30 +/-1. 09 vs 0. 69 +/-0. 72, P = 0. 014).

HCC

liver diseases


Input: Although the first three mechanisms do not appear to be relevant, regression of myeloid suppressor cells in Stat6-deficient and CD1-deficient mice may be responsible for enhanced immunosurveillance.

regression


Input: None of the 10 RIBA-2-nonreactive donors had evidence of viremia.

RIBA

viremia


Input: The C46T polymorphism of the coagulation factor XII gene and idiopathic recurrent miscarriage.

coagulation factor XII

recurrent miscarriage


Input: NAGLU mutations underlying Sanfilippo syndrome type B.

NAGLU

Sanfilippo syndrome type B

NAGLU

Sanfilippo syndrome type B


Input: This study found a correlation between some serum markers [AST/ALT ratio, level of matrix metalloproteinase 9 (MMP9), level of viraemia and HCV serotype] and severity of liver fibrosis in HCV-infected patients.

viraemia


Input: Pharmacological inhibition of JAK2 attenuated liver fibrosis in rodent fibrosis models.

fibrosis


Input: HLA-E * 0101, HLA-E * 01032 and HLA-E * 01031 were detected with frequencies of 56. 7%, 33. 6% and 9. 6% in controls and 58, 5%, 32. 9% and 8. 5% in patients with recurrent abortion, respectively.

HLA-E

recurrent abortion


Input: The mean PH and GGT activities of the keloid fibroblasts were not elevated, but PH activity in 2 cell lines and GGT activity in 1 cell line were higher than the mean + 2 SD for the controls.

GGT

keloid


Input: Expression of mda-5 by means of a replication incompetent adenovirus, Ad. mda-5, induces apoptosis in HO-1 cells as confirmed by morphologic, biochemical and molecular assays.

adenovirus


Input: Glucocorticoid receptor-interacting protein 1 (GRIP1), a p160 family nuclear receptor co-activator protein, has three activation domains that recruit at least three secondary co-activators: CBP/p300, co-activator-associated arginine methyltransferase 1, and coiled-coil co-activator, which exhibits histone acetyltransferase and/or arginine methyltransferase activities.

methyltransferase 1

secondary


Input: KCN1 also downregulated transcription of endogenous HIF-1 target genes, such as VEGF, Glut-1, and carbonic anhydrase 9, in a hypoxia-responsive element (HRE)-dependent manner.

VEGF

hypoxia


Input: We screened 184 familial (FALS) and 200 sporadic German patients with ALS for FUS/TLS mutations by sequence analysis of exons 5, 6 and 13-15.

TLS

sporadic


Input: Oncogene AEG-1 promotes glioma-induced neurodegeneration by increasing glutamate excitotoxicity.

neurodegeneration


Input: In contrast, HIF activation downstream of hypoxia/DMOG drives expression of genes such as ANGPTL4, EFNA3, TGFβ1 and VEGF.

VEGF

hypoxia


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

tumorigenesis


Input: Functionally, TCF21 binds the promoter of the melanoma metastasis-suppressing gene, KiSS1, and enhances its gene expression through interaction with E12, a TCF3 isoform and with TCF12.

melanoma


Input: The androgen receptor gene StuI restriction site was found in all but one (98. 1%) of the 54 young bald men (p = 0. 0005) and in 92. 3% of older balding men (p = 0. 000004) but in only 76. 6% of nonbald men.

androgen receptor gene

balding


Input: Here we report a case of TRAPS with a novel TNFRSF1A mutation, C70S, in a Japanese family.

TRAPS

TRAPS


Input: Genome-wide association studies have also revealed SRGAP3, together with genes from the same cellular network, as risk genes for schizophrenia.

schizophrenia

schizophrenia


Input: As a result of the translocation, they are expressed as fusion genes either with AML1 or with TEL.

translocation


Input: We describe the phenotypic range of GCD2 heterozygotes for the common R124H mutation in TGFBI; seven with an extremely mild phenotype and six with an extremely severe phenotype.

TGFBI

TGFBI


Input: Variants at three of these loci have previously been linked with important clinical outcomes: SLC7A9 is a risk locus for chronic kidney disease, NAT2 for coronary artery disease and genotype-dependent response to drug toxicity, and SLC6A20 for iminoglycinuria.

iminoglycinuria

iminoglycinuria


Input: Each lymphoma with TCR delta gene rearrangement had an aberrant T-cell immunophenotype and three cases were of the large cell anaplastic type.

TCR delta gene

lymphoma


Input: To study whether the immune system is involved in the pathogenesis of CMTX1 patients and asymptomatic carriers, we measured serum concentrations of antibodies to peripheral nerve myelin protein 22 (PMP22), interleukin-6 (IL-6) and tumour necrosis factor alpha (TNF-alpha) by ELISA.

asymptomatic


Input: As impaired NMDA receptor activity may be the result of a primary defect in the NMDA receptors themselves, or secondary to dysfunction in the protein complexes that mediate their signaling, we measured expression of both NMDA subunits and associated postsynaptic density (PSD) proteins (PSD95, neurofilament-light (NF-L), and SAP102) transcripts in the dorsolateral prefrontal cortex in subjects with schizophrenia, bipolar disorder, major depression, and a comparison group using tissue from the Stanley Foundation Neuropathology Consortium.

major depression

major depression


Input: In this article, we give an overview of the mechanisms by which this deficit of SST participates in the main pathogenic mechanisms involved in diabetic retinopathy (DR): neurodegeneration, neovascularization, and vascular leakage.

SST

neovascularization


Input: Forty-nine high-risk AA received 200 mg/d troglitazone (TRO) versus 81 age-, weight-, and body mass index (BMI)-matched high-risk AA who received placebo (PLA) for 24 months.

TRO

body mass index


Input: Together, our results indicate that STAT3 plays a crucial role in esophageal carcinogenesis by regulating the cell proliferation and apoptosis in conjunction with Oct-1.

esophageal


Input: The percentage of platelet aggregation was lower in the stroke patient at every time point when induced by 5 micromol/L of ADP, by 10 micromol/L of ADP, and by thrombin than in the rest of the AMI group.

ADP

stroke


Input: The impact of smoking, ALDH2 genotype, and their interaction on lung cancer risk were assessed by odds ratio (OR) and 95% confidence interval adjusted for potential confounders.

smoking


Input: He had a mild thalassemia intermedia phenotype and was transfusion independent with a hemoglobin (Hb) level of 9. 4 g/dl, mean corpuscular volume (MCV) of 55. 2 fl, and mean corpuscular hemoglobin (MCH) of 17. 5 pg.

MCH

mean corpuscular volume


Input: Notably, miR-532-5p regulated the nuclear expression of & #946;-catenin and activation of Wnt/& #946;-catenin signaling in bladder cancer cells.

bladder cancer

bladder cancer


Input: Here, we delineate a unique mechanism by which tTG contributes to the development of gliomas by using two glioblastoma cell lines, U87 and LN229, whose growth and survival are dependent on tTG.

gliomas


Input: Using histological staining including Martius Scarlet Blue (MSB) and Haematoxylin and Eosin (H & E) and microscopy, we studied placental fibrin deposition and histological abnormalities in subjects (n = 23) with APCR (APCR group), based on a ratio of less than or equal to 2. 1s with the Coatest classic test and subjects (n = 11) with an APC ratio in the normal range, greater than 2. 1s (APCN group).

APCN

abnormalities


Input: Moreover, FLCN knockdown induced GPNMB expression in FLCN-restored renal cancer cells.

GPNMB

renal cancer


Input: This model may be extended to other genes where collaboration between TGF-beta and hypoxia takes place.

TGF-beta

hypoxia


Input: Novel KRT83 and KRT86 mutations associated with monilethrix.

monilethrix

monilethrix


Input: Up-to-date treatment of acute myocardial infarction (AIM) has been based on as early as possible establishment of circulation in ischemic myocardium whether by the use of fibrinolythic therapy and/or urgent coronary intervention which significantly changes the destiny of patients with AMI, but also increases the risk of bleeding.

AIM

acute myocardial infarction


Input: To investigate the feasibility of NBS for Pompe disease in Japan, we obtained dried blood spots (DBSs) from 496 healthy Japanese controls, 29 Japanese patients with Pompe disease, and five obligate carriers, and assayed GAA activity under the following conditions: (1) total GAA measured at pH 3. 8, (2) GAA measured at pH 3. 8 in the presence of acarbose, and (3) neutral glucosidase activity (NAG) measured at pH 7. 0 without acarbose.

GAA

Pompe disease

GAA

Pompe disease


Input: SIRT1 expression was gradually decreased during the normal-adenoma-adenocarcinoma-metastasis sequence, suggesting a possible role of SIRT1 in tumour suppression in the colorectum, and a probable link to the microsatellite instability pathway.

microsatellite instability


Input: Despite being cultured in normal (5. 5 mM) glucose for 7 days, EOCs from diabetic rats expressed less SIRT1 mRNA, induced less endothelial tube formation in vitro and neovascularization in vivo, and secreted less of the proangiogenic ELR (+) CXC chemokines CXCL1, CXCL3, and CXCL5.

neovascularization


Input: Because corresponding human syntenic regions are on different chromosomes, investigation of ATP1A1 (chromosome [chr]-1p21) and Dear (chr-4q31. 3) facilitates genetic analyses of each blood pressure quantitative trait locus in human hypertension.

blood pressure


Input: A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.

Tangier disease

Tangier disease


Input: The predicted sequence of the protein (alsin) may indicate a mechanism for motor-neuron degeneration, as it may include several cell-signaling motifs with known functions, including three associated with guanine-nucleotide exchange factors for GTPases (GEFs).

alsin

neuron degeneration


Input: Tumors examined by Northern blot revealed M68 mRNA highly elevated in a similar fraction of primary tumors from the same gastrointestinal tract regions, as well as in the colon adenocarcinoma cell lines SW480 and SW1116.

colon adenocarcinoma


Input: Patients who were double homozygotes had SNHL accompanied by early-onset and severe RP, while patients who were homozygous for the CEP250 mutation and carried a single mutant C2orf71 allele had SNHL with mild retinal degeneration.

mild


Input: Since the identification of phosphorylated and truncated transactive response DNA-binding protein 43 (TDP-43) as a primary component of ubiquitinated inclusions in amyotrophic lateral sclerosis and frontotemporal lobar degeneration with ubiquitin-positive inclusions, much effort has been directed towards ascertaining how TDP-43 contributes to the pathogenesis of disease.

DNA-binding protein

amyotrophic lateral sclerosis


Input: Its role in the control of respiration has been highlighted by the identification of heterozygous PHOX2B mutations as the cause of Central Congenital Hypoventilation Syndrome (CCHS), a rare disease defined by the lack of CO (2) responsiveness and of breathing automaticity in sleep.

breathing


Input: Collectively, identification of mutations in the MRP6 gene provides the basis to examine the pathomechanisms of PXE and allows development of DNA-based carrier detection, prenatal testing, and preimplantation genetic diagnosis in families with a history of this disease.

PXE

PXE


Input: Strong associations of low serum IGF-I with blood pressure and arterial stiffness in young Africans suggest that the loss of cardiometabolic protection by IGF-I could predispose them to earlier disease onset.

IGF-I

arterial stiffness


Input: We extended that work to investigate other SNP in the EGF gene for their association with pre-eclampsia and the weight of babies at birth.

EGF gene

weight


Input: This suggests that acid induced oesophagitis may act through VR-1 and that inhibition of the receptor may reduce inflammation.

oesophagitis

oesophagitis


Input: Acute exposure to dexamethasone and hydrocortisone resulted in abnormal zebra fish development including craniofacial abnormalities, altered somitogenesis, blood pooling and pericardial and yolk sac edema as well as increased MMP-13 mRNA and activity at 72 hpf.

craniofacial abnormalities

craniofacial abnormalities


Input: Anti-TSLP, anti-dendritic cell-limbic system-associated membrane protein (anti-DC-LAMP), and anti-tryptase immunohistochemical staining was performed with 10 resected giant papillae.

TSLP

giant


Input: Mosaicism for HRAS c. 37G & gt; C and KRAS c. 35G & gt; A mutations was found in two individuals with Schimmelpenning syndrome.

KRAS

Schimmelpenning syndrome

KRAS

Schimmelpenning syndrome


Input: In a smaller number of cases this expression of bcl-2 could be explained by the presence of the translocation t (14; 18).

translocation


Input: We evaluate whether AAV-mediated gene replacement therapy is able to improve photoreceptor function and survival in retinal degeneration associated with AIPL1 defects.

AAV

retinal degeneration


Input: High resolution genomic analysis (Affymetrix Human Genome Wide SNP 6. 0) revealed a 7q36. 3 deletion encompassing NCAPG2, ESYT2, WDR60 and VIPR2, inherited from his asymptomatic father and paternal grandfather.

asymptomatic


Input: The occurrence of PPH and the abnormal hemoglobin could be due to genetic or biochemical factors or simply coincidental.

PPH

abnormal hemoglobin


Input: The expression of c-Jun protein and c-jun mRNA was significantly increased in the cerebellar vermis of patients with schizophrenia, whereas no significant differences were found in the expression of Jun B or Jun D proteins.

c-Jun

schizophrenia

c-Jun

schizophrenia


Input: These findings further substantiate the role that mutations in PCFT play in the pathogenesis of HFM and will make possible rapid diagnosis and treatment of this disorder in infants, and prenatal diagnosis in families that carry a mutated gene.

PCFT

HFM

PCFT

HFM


Input: We wanted to evaluate the association between LEPR polymorphisms, diabetes risk and body weight in Finnish subjects with impaired glucose tolerance (IGT).

LEPR

body weight


Input: Under basal conditions, neuroblastoma cells secrete IGFs (essentially IGF-II), IGFBPs (IGFBP-4 and predominantly IGFBP-2 that is partially proteolysed), and proteases, including tissue-type plasminogen (PLG) activator, whose activity is inhibited by PLG activator inhibitor-1.

PLG

neuroblastoma


Input: Induction of cyclooxygenase-1 in cultured synovial cells isolated from rheumatoid arthritis patients.

rheumatoid arthritis

rheumatoid arthritis


Input: WEE1 kinase is a potential therapeutic drug target for HNSCC.

HNSCC

HNSCC


Input: Similar analyses for the paediatric group revealed, in distinct contrast to the adult patients, no significant abnormalities of CD45R expression suggesting that these defects may not become apparent until a later age.

abnormalities


Input: Our data suggest that loss of TMTC3 causes COB with minimal eye or muscle involvement.

COB

COB


Input: The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD.

MECD

MECD


Input: Our analysis identified several novel dysregulated genes and miRNAs in ASD compared with controls, including HEY1, SOX9, miR-486 and miR-181b.

ASD

ASD


Input: CD34 + cells were obtained from human umbilical cord blood, retrovirally transduced with human beta-glucuronidase (HBG) gene, and transplanted into nonobese diabetic/severe combined immunodeficiency (NOD/SCID) mice.

beta-glucuronidase

severe combined immunodeficiency


Input: The calculated sensitivity and specificity for diagnosing elevated bone resorption, as determined by a DPD value higher than 7. 6 nM/mM Cr, were 61% and 92%, respectively, when a cut-off value of 40 IU/g Cr was assigned for urinary GGT.

GGT

bone resorption


Input: We show further that ERβ attenuated the hypoxic induction of VEGF mRNA by directly decreasing HIF-1α binding to the VEGF gene promoter.

VEGF

hypoxic


Input: Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.

NK cell deficiency

NK cell deficiency


Input: The secretion of VEGF but not bFGF is up-regulated by hypoxia.

VEGF

hypoxia


Input: Thus, DEFA5, DEFA6, MMP7, IL8 and SPP1 consist in a valuable panel of biomarkers, whose detection can be used in early detection and progressive disease and also in prognostic of colon cancer.

colon cancer


Input: Myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), including chronic myelomonocytic leukemia, atypical chronic myeloid leukemia, MDS/MPN-Unclassifiable, ring sideroblasts associated with marked thrombocytosis, and juvenile myelomonocytic leukemia, are clonal hematologic diseases characterized by myeloid dysplasia, proliferation, and absence of the molecular lesions BCR/ABL, PDGFRA, PDGFRB, and FGFR1.

PDGFRA

thrombocytosis


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

bipolar disorder


Input: Our aim was to examine the methylation status of Reprimo in a broad range of cancers.

Reprimo

cancers


Input: Misfolding of Notch3 is linked to endoplasmic reticulum stress and increased reactive oxygen species, which may result in dysfunction of endothelial cells, inflammation and ischemia.

inflammation


Input: In vitro, APOBEC3B expression was predominantly induced by treatment with a DNA-damaging drug in bladder cancer cell lines, and APOBEC3A expression was induced as part of the antiviral interferon-stimulated response in breast cancer cell lines.

bladder cancer

bladder cancer


Input: Eighteen BMPR2 mutation carriers and 7 ALK1 mutation carriers were detected in the 54 patients with childhood IPAH or HPAH.

HPAH

HPAH


Input: The translocation was accompanied by a deletion of MALT1 sequences distal to the breakpoint including the caspase-like domain, which is essential for activation of NF-kappaB.

translocation


Input: EXPERIMENTAL DESIGN: We used fluorescent in situ hybridization and in situ hybridization to evaluate CSF1 translocation and mRNA expression in six malignant D-TSGCTs, which were further immunohistochemically compared with 24 benign cases for cell cycle regulators involving G (1) phase and G (1)-S transition.

translocation


Input: Mutations in matrilin-3 are associated with common skeletal diseases, such as hand osteoarthritis (HOA), as well as rare chondrodysplasias, such as multiple epiphyseal dysplasia (MED) and spondyloepimetaphyseal dysplasia (SEMD).

SEMD

multiple epiphyseal dysplasia


Input: Metadherin (MTDH) plays functional roles in the tumorigenesis and tumor progression of various cancers.

MTDH

tumorigenesis


Input: In subjects with mild chronic atrophic gastritis, the frequencies of the variant (less common) alleles of CYP2E1 RsaI, CYP2E1 DraI, GSTP1, ALDH2, and ODC were, respectively, 0. 156, 0. 201, 0. 189, 0. 190, and 0. 428.

mild


Input: We have found no evidence for an association between polymorphism of the ACE or AT1R genes and microalbuminuria in two groups of subjects without insulin-dependent diabetes.

ACE

microalbuminuria


Input: Respiratory parameters [maximum vital capacity (VCmax); forced expiratory volume (FEV1); peak expiratory flow (PEF), postural drop of VCmax from sitting to supine, maximum inspiratory muscle pressure (PImax), mouth occlusion pressure after 100 ms (P 0. 1), peak cough flow, and blood-gas analysis] were monitored prospectively at baseline, and then 6 months and 12 months later in 8 patients with genetically confirmed MATR3 myopathy.

vital capacity


Input: IL-13 and IL-4R may play an important role in the etiology of RCC.

RCC

RCC


Input: Deficiency of surface expressions of GPI-anchored complement inhibitors leads to complement-mediated hemolysis.

GPI

hemolysis


Input: Cancer-associated splicing variant of tumor suppressor AIMP2/p38: pathological implication in tumorigenesis.

tumorigenesis


Input: We demonstrated significant interactions between active smoking and polymorphisms in 17q12-21 with asthma, lung function, and AHR in adults.

AHR

smoking


Input: On the other hand, autosomal abnormalities have been identified in POF patients such as mutations of the FSH gene, the LH and FSH receptor genes, chromosome 3q containing the blepharophimosis gene, the ATM gene (Ataxia-telangiectasia gene).

FSH receptor

abnormalities


Input: T (8; 21) AML1 (CBFA2)-ETO (MTG8) is the most common chromosomal translocation in acute myeloid leukemia (AML) in both children and adults.

chromosomal translocation


Input: Mutations in the critical chromatin modifier ATRX and mutations in CIC and FUBP1, which are potent regulators of cell growth, have been discovered in specific subtypes of gliomas, the most common type of primary malignant brain tumors.

CIC

primary malignant brain tumors


Input: Primary skin fibroblasts from seven PBD-ZSD patients with biallelic PEX1, PEX10, PEX12, or PEX26 mutations and three healthy donors were transduced with retroviral vectors expressing Yamanaka reprogramming factors.

PBD-ZSD

PBD-ZSD


Input: These data suggests that the presence of any of the main NOD2 variants in CD is associated with osteoporosis and an age of onset dependent influence towards underweight, higher disease activity and a more intensive immunosuppressive therapy.

underweight


Input: In total, 22 PGD cycles with duplex PCR (IVS8CA/IVS17BTA, DeltaF508/IVS8CA, DeltaF508/IVS17BTA and D7S486/D7S490) were carried out in 16 couples, which resulted in four ongoing pregnancies and one miscarriage.

miscarriage


Input: Since autism is hypothesized to be a hypoglutamatergic disorder we investigated the in vivo effects of secretin on extracellular amino acids in the rat brain.

secretin

autism

secretin

autism


Input: Generally considered as a tumor-suppressor gene, Dab2 may actually promote tumor progression in advanced cancers through epithelial-to-mesenchymal transition (EMT).

EMT

tumor progression


Input: Measuring the expression levels of IFN receptors, and their ability to be up-regulated, may be a promising method for selecting HCC patients for this type of combination therapy.

IFN

HCC

IFN

HCC


Input: Here we show that lithium, a pharmacological agent used for the management of psychiatric disorders such as bipolar disorder, schizophrenia, and depression, regulates Akt/glycogen synthase kinase 3 (GSK3) signaling and related behaviors in mice by disrupting a signaling complex composed of Akt, beta-arrestin 2, and protein phosphatase 2A.

beta-arrestin 2

depression

beta-arrestin 2

depression


Input: Mutations were analyzed for their haematological parameters which include total red blood cell count (TRBC), haemoglobin (Hb), mean cell volume (MCV), mean cell haemoglobin (MCH) and red cell distribution width (RDW).

MCH

mean cell volume


Input: Targeted genotyping revealed BRAF p. Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors).

craniopharyngiomas

craniopharyngiomas


Input: The unweighted GRS containing coronary artery calcified plaque (CAC) SNPs was nominally associated with history of prior CVD (p = 0. 033; OR = 1. 09).

CAC

plaque


Input: Serum starvation and refeeding assay indicated that EBP1 was accumulated in growth-arrested HCC cells, and was progressively decreased when cells entered into S phase.

HCC

starvation


Input: We report here that mice bearing a disruption in the NF-ATc gene fail to develop normal cardiac valves and septa and die of circulatory failure before day 14. 5 of development.

NF-ATc

circulatory failure


Input: IFNG, IFNGR1 and IFNGR2 expression was analysed using qRT-PCR profiling in the inflammatory granulation tissue and atheroma.

IFNG

atheroma


Input: Sequence analysis revealed that one of these antigens, HOM-MEL-40, was coded for by the SSX2 gene, which has recently been described to be involved in the t (X; 18) translocation of human synovial sarcomas.

SSX2 gene

translocation


Input: We consider that MYC rearrangement, loss of one p53 allele as well as other factors, such as more prolymphocytes in the blood and bone marrow and complex chromosome abnormalities, also had adverse effects on the poorer prognosis of case 2.

MYC

chromosome abnormalities


Input: Our objective was to characterize MTX-LPD in comparison to non-MTX-LPD and sporadic LPD in patients with RA.

MTX

sporadic


Input: In addition to the activation of angiogenesis by induction of VEGF, HIF-1 may trigger hypoxia-induced growth arrest and apoptosis.

VEGF

hypoxia


Input: In addition, fumaric acid attenuated expression of CC-chemokine receptor 3 (CCR3), an eotaxin-1 receptor, and adhesion molecules that play important roles in eosinophil binding to induce allergic inflammation.

inflammation

inflammation


Input: Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations.

neurological manifestations


Input: More than 90% of cases are associated with a chromosomal translocation involving the COL1A1 gene on chromosome 17 and the platelet-derived growth factor B gene on chromosome 22.

COL1A1 gene

chromosomal translocation


Input: These results suggest the level of p53 expression could determine if the HCC cells would go into cell cycle arrest or apoptosis.

HCC

HCC


Input: Tumor expansion was significantly reduced after intratumoral injection of 3 x 10⁸ PFU of either OV. shHDAC1 or OV. p73 and, most important, complete regression could be achieved in 100% of tumors treated with OV. shHDAC1. p73.

regression


Input: We screened members of the Framingham Heart Study (FHS) for variation in three genes-SLC12A3 (NCCT), SLC12A1 (NKCC2) and KCNJ1 (ROMK)-causing rare recessive diseases featuring large reductions in blood pressure.

NCCT

blood pressure


Input: This study adds a new member in the existing list of genes causing cerulean cataract and expands the mutation spectrum and phenotypic association of MIP mutations.

MIP

cerulean cataract

MIP

cerulean cataract


Input: Association between IGF1 CA microsatellites and mammographic density, anthropometric measures, and circulating IGF-I levels in premenopausal Caucasian women.

IGF-I

mammographic density


Input: Two patients with large deletions of SEDL exons were found, one with childhood onset of painful complications, the other relatively free of additional symptoms.

SEDL

childhood onset


Input: PGA1 and Li and their combination significantly enhanced the ischemia-induced elevation in the levels of HSF-1, HO-1, and HSP90alpha, and recovered HSP90beta expression, but decreased Apaf-1 levels in the ischemic striatum.

ischemia


Input: Upon binding of a Wnt ligand to the frizzled (FZD)-low density lipoprotein receptor related protein 5/6 (LRP5/6) receptor complex, the β-catenin destruction complex, composed of Axin1, adenomatous polyposis coli (APC), glycogen synthase kinase 3 (GSK3) and casein kinase 1 (CK1), is immediately inactivated, which causes β-catenin stabilization.

adenomatous polyposis coli


Input: Here we show that expression of COX10 from a retroviral vector complements the COX deficiency in a patient with anemia and Leigh Syndrome, and in a patient with anemia, sensorineural deafness and fatal infantile hypertrophic cardiomyopathy.

Leigh Syndrome

Leigh Syndrome


Input: Since SCF (Fbxw7/hCdc4) is functionally inactivated in several human cancer types, alteration of this molecular pathway could contribute to the deregulation of cyclin E2 in tumorigenesis.

tumorigenesis


Input: Detailed cytogenetic and molecular analyses revealed three de novo X chromosome aberrations and a karyotype 46, Y, der (X) inv (X) (p11. 4q11. 2) inv (X) (q11. 2q21. 32 approximately q22. 2) del (X) (q22. 3q22. 3) was determined.

chromosome aberrations


Input: Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

MAX

pheochromocytoma

MAX

pheochromocytoma


Input: We have also evaluated the involvement of GNE in several families from worldwide non-Jewish ethnic origins presenting symptoms similar to the Middle Eastern HIBM prototype.

GNE

HIBM

GNE

HIBM


Input: Interestingly, PB cells from lymphadenopathy patients shared GEP with LN cells.

GEP

lymphadenopathy


Input: The MRIBview estimates of volumetric breast density are highly correlated with mammographic dense area but are not equivalent measures; the MRI absolute dense volume shows potential as a predictor of breast cancer risk that merits further investigation.

MRI

breast cancer


Input: In four hyperuricemic patients with mild neurological abnormality, no mutations responsible for partial HPRT deficiency were identified in HPRT1.

HPRT deficiency

HPRT deficiency


Input: Although the total protein expressions of IR-β, IRS-1, PI3K, PKB and GLUT4 in skeletal muscle were not affected, insulin-stimulated GLUT4 translocation and phosphorylation of Tyr-IR-β, Tyr612-IRS-1, p85-PI3K, Ser473-PKB, and Thr308-PKB were significantly increased by CHS supplement.

PKB

translocation


Input: Lowered Asc-1 in schizophrenia implies that D-serine reuptake is reduced, perhaps as a response to decreased synaptic D-serine availability.

schizophrenia

schizophrenia


Input: Differential display RT-PCR analysis allowed us to identify the genes that are responsive to oxidative stress during PCM and to characterize the differential role of cysteine on the expression of the fibrinogen B beta chain, BTG1 and THRP genes as a homeostatic adaptive response during protein deficiency.

protein deficiency


Input: This study determines VCP may play an important role in progression to CRPC and it can be a favorable target with to develop new therapies to treat ADT resistant prostate cancer.

VCP

prostate cancer

VCP

prostate cancer


Input: Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.

GFAP

Alexander disease

GFAP

Alexander disease


Input: Krüppel-associated box-containing zinc finger proteins (KRAP-ZFPs) are well recognized as key regulators of transcription, which play a crucial role in the regulation of cell proliferation, differentiation, apoptosis and tumorigenesis.

KRAP

tumorigenesis


Input: We conducted a matched case-control study of 1, 380 pairs of women with a BRCA1 or BRCA2 mutation to determine if a history of infertility, the use of fertility medications, or undergoing in vitro fertilization (IVF) were associated with and increased the risk of breast cancer.

infertility


Input: Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.

TWIST

Saethre-Chotzen syndrome

TWIST

Saethre-Chotzen syndrome


Input: The human TRP-related proteins may mediate many of the store-operated conductances that have been identified previously in a plethora of human cells.

TRP

plethora


Input: The use of FISH in combination with other molecular techniques has defined the deletion in band 13q14 as the most common abnormality in chronic lymphocytic leukemia, followed by del (11) (q22-23), trisomy 12, del (17) (p13), and del (6) (q21).

trisomy 12


Input: In mice fed with WD, proximal colon mucosa, the predominant site of cancer formation in LS, exhibited a significant expression decrease in tumor suppressor genes, Dkk1, Hoxd1, Slc5a8, and Socs1, the latter two only in the Mlh1 (+/-) mice.

cancer


Input: An altered balance between Th1 and Th2 cytokines is responsible for a variety of immunoinflammatory disorders such as asthma, yet the role of posttranscriptional mechanisms, such as those mediated by microRNAs (miRs), in adjusting the relative magnitude and balance of Th cytokine expression have been largely unexplored.

asthma


Input: Therefore, SAC has therapeutic potential for preventing nonalcoholic fatty liver disease.

SAC

nonalcoholic fatty liver disease


Input: Graves' disease (GD) is an autoimmune disease characterized by hyperthyroidism due to the presence of autoantibodies against thyroid-stimulating hormone receptor, which is measured as thyroid-stimulating hormone-binding inhibitory immunoglobulin (TBII).

hormone receptor

hyperthyroidism


Input: Here, we show that the cold receptor transient receptor potential melastatin 8 (TRPM8) undergoes a complex modulation by clinical concentrations of VAs in dorsal root ganglion neurons and HEK-293 cells heterologously expressing TRPM8.

cold


Input: On the other hand, the expression of CYP3A4 mRNA and CYP3A7 (P-450 Fla) mRNA, a transcript found in the fetus and highly homologous to CYP3A4, was higher in all nontumorous liver and some of the carcinoma tissues from five HCC patients, whereas it was significantly lower in normal liver tissues from two non-HCC patients.

carcinoma


Input: Downregulation of BCL-2 and light-chain switch have rarely been reported in previous cases of FL transformation involving c-MYC, suggesting that additional t (2; 8) translocation may play a role in these events.

translocation


Input: Our findings establish that FABP5 is critical for mammary tumor development, rationalizing the development of FABP5 inhibitors as novel anticarcinogenic drugs.

mammary tumor


Input: We report on the clinical and molecular characterization of the fourth complete PROP1 deletion in a girl with proportional short stature, combined pituitary hormone deficiency and a suprasellar mass mimicking a hypothalamic glioma.

pituitary hormone deficiency


Input: Propofol also down-regulated, in A549 cells, the expression of IL-6, IL-8, and TNF-α, Bcl-2/adenovirus E1B 19 kDa interacting protein 3 (BNIP3), and apoptosis.

adenovirus


Input: Using chimeric mice, we demonstrated that PAR1-mediated protection against H. pylori gastritis requires bone marrow-derived cells.

gastritis


Input: Homozygous truncating mutations in POMK lead to CMD with secondary merosin deficiency, hypomyelination and intellectual disability.

POMK

secondary


Input: To our knowledge this is the first documentation of successful treatment in a patient with PAIS and a point mutation in the DNA-binding domain of the androgen receptor.

androgen receptor

PAIS

androgen receptor

PAIS


Input: To establish a role for insulin-like growth factor-1 (IGF-1) in bladder cancer susceptibility, we tested the effect of p-cresidine, a potent bladder carcinogen, in transgenic (TG) mice with human IGF-1 expression in the bladder driven by the bovine keratin 5 promoter (referred to as BK5. IGF-1 TG mice).

insulin-like growth factor-1

bladder cancer

insulin-like growth factor-1

bladder cancer


Input: To define the genetics of juvenile-onset sporadic ALS (SALS) of Chinese origin, we sequenced all 5 exons of SOD1, exons 3-6 and 12-15 of FUS in 11 juvenile-onset SALS patients, 105 adult-onset ALS patients (including 6 familial ALS [FALS] pedigrees), and 245 healthy controls.

FUS

sporadic


Input: In this work, we identified TRDN as a new gene responsible for an autosomal recessive form of CPVT.

TRDN

CPVT

TRDN

CPVT


Input: The purpose was to evaluate the hypoxia-orchestrated control of E-cadherin transactivation via hypoxia inducible factor-1 (HIF-1) and peroxisome proliferator activated receptor-γ (PPARγ), and the involvement of Hippo pathway members, as regulators of transcription factors.

PPARγ

hypoxia


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

ovarian cancer

ovarian cancer


Input: TCL1B is overexpressed in ERalpha-positive compared with ERalpha-negative breast cancers and in lung metastasis-free breast cancers.

lung metastasis


Input: The AIM-2-reactive T-cell clone recognized a number of neuroectodermal tumors as well as breast, ovarian, and colon carcinomas that expressed HLA-A1, indicating that this represents a widely expressed tumor antigen.

AIM

neuroectodermal tumors


Input: In this report, we assessed the role of c-fms inhibition within the tumor cells (autocrine effect) in the early establishment of breast cancer cells in bone and the effects of this early c-fms inhibition on subsequent bone metastases and destruction.

c-fms

bone metastases


Input: Here, we have performed a robust prospective nationwide genetic association study in patients with bacterial meningitis and found that a common nonsynonymous complement component 5 (C5) SNP (rs17611) is associated with unfavorable disease outcome.

complement component 5

bacterial meningitis


Input: An epithelial to mesenchymal transition (EMT) constitutes one way that cancer cells can gain traits that promote tumor progression and metastasis.

EMT

tumor progression


Input: Moreover, UROD was significantly overexpressed in HNC patient biopsies.

UROD

HNC

UROD

HNC


Input: Furthermore, hypoxia treatment resulted in a doubling of VEGF mRNA stability.

VEGF

hypoxia


Input: Estrogen-receptor-positive PDXs were associated with ESR1 ligand-binding-domain mutations, gene amplification, or an ESR1/YAP1 translocation.

translocation


Input: Here, we show that RhoGDI2 functions in the epithelial-mesenchymal transition (EMT), which is responsible for invasiveness during tumor progression.

EMT

tumor progression


Input: The genotype * 07/* 0201 was frequently found in Sydenhamn' s chorea patients that had also acquired RHD, but DRB1 * 04/DQA1 * 0401 was often apparent in RF patients without RHD.

chorea


Input: Given the established role of 90 kDa ribosomal S6 kinases (Rsk) in oncogenesis, and the promise of new Rsk-blocking cancer treatments, it is perhaps surprising that Rsk2-mediated inhibition of hyperplasia has now been demonstrated to occur in the arthritic synovium.

hyperplasia


Input: The 2-oncogene model was characterized by granulocyte-macrophage colony-stimulating factor (GM-CSF) hypersensitivity and activated STAT/ERK signaling.

ERK

hypersensitivity


Input: Reverse transcription-polymerase chain reaction with specific primers demonstrated that multiple human gastric tumor specimens expressed IL-4R " and IL-2Rgc but did not express the leukocyte marker CD45.

gastric tumor


Input: Hypermethylation of SFRP2 gene in fecal DNA is a novel molecular biomarker of CRC and carries a high potential for the remote detection of CRC and premalignant lesions as noninvasive screening method.

SFRP2 gene

premalignant


Input: Data from 2 population-based case-control studies of colon and rectal cancer conducted in Utah and Northern California were used to evaluate associations between body mass index (BMI), physical activity, energy intake and sucrose-to-fiber ratio and a CA repeat polymorphism of the IGF1 gene, the A/C polymorphism at nucleotide-202 of the IGFBP3, the G972R polymorphism of the IRS1 gene and the G1057D polymorphism of the IRS2 gene.

body mass index


Input: Eighty-five cases of primary HCC were further examined by immunohistochemistry and statistical analyses demonstrated that HCC scored lower than matched non-neoplastic liver tissues consistently and significantly.

HCC

non-neoplastic


Input: This retrospective study included 29 patients with confirmed mutations in the DYSF gene (14 MM, 12 LGMD2B, 1 asymptomatic hyperCKemia, and 2 symptomatic carriers).

DYSF gene

asymptomatic


Input: The natural mutant receptor hGR & #945; V423A causes primary generalized glucocorticoid resistance by affecting multiple steps in the cascade of glucocorticoid receptor action, which primarily involve decreased ability to bind to target glucocorticoid response elements and delayed translocation into the nucleus.

glucocorticoid receptor

generalized glucocorticoid resistance

glucocorticoid receptor

generalized glucocorticoid resistance


Input: These results reveal a previously unrecognized interaction between IQGAP1 and RhoC, and demonstrate that IQGAP1 is a downstream effector of RhoC in the regulation of the migration activity of gastric cancer cells.

RhoC

gastric cancer


Input: To determine whether genetic polymorphisms in detoxification enzymes predispose to the development of CRC, 371 patients with sporadic CRC and 415 healthy controls were genotyped for polymorphisms in the important detoxification enzymes UDP-glucuronosyltransferase UGT1A1, UGT1A6, UGT1A7 and UGT1A8, and glutathione S-transferase GSTA1, GSTM1, GSTP1 and GSTT1.

sporadic


Input: In 595 GAD-negative, drug naïve patients (mean ± SD; age: 58. 5 ± 10. 2 yrs; BMI: 29. 9 ± 5 kg/m (2), HbA1c: 7. 0 ± 1. 3) with newly diagnosed type 2 diabetes we: 1. genotyped 10 tag SNPs in CACNA1E region reportedly covering ∼ 93% of CACNA1E common variability: rs558994, rs679931, rs2184945, rs10797728, rs3905011, rs12071300, rs175338, rs3753737, rs2253388 and rs4652679; 2. assessed clinical phenotypes, insulin sensitivity by the euglycemic insulin clamp and beta cell function by state-of-art modelling of glucose/C-peptide curves during OGTT.

insulin sensitivity


Input: However, no influence of ACE and AT1R polymorphisms on left ventricular mass was found, regardless of systemic hypertension.

ACE

left ventricular mass


Input: Our results suggest that the presence of myofibroblasts in HGF could be dependent on CTFG expression levels, and different biological mechanisms may account for the gingival overgrowth observed in HGF patients.

HGF

gingival overgrowth


Input: Pretreatment with the DOR agonist, BW373U86, limited infarct development to 37. 2 +/-1. 8%, which was reversed by the selective DOR antagonist, BNTX.

DOR

infarct


Input: The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities, particularly ventricular preexcitation.

glycogen-storage cardiomyopathy

glycogen-storage cardiomyopathy


Input: In the entorhinal cortex, most changes in glutamate receptor expression were associated with BD, with decreased GluR2, GluR3, and GluR6 mRNA expression.

BD

BD


Input: We hypothesize that increased levels of pantetheinase activity are part of the inflammatory-regenerative epidermal differentiation program, and may contribute to the phenotype observed in psoriasis.

pantetheinase

psoriasis

pantetheinase

psoriasis


Input: MBCA suppressed PMA-and histamine-induced upregulation of H1R expression at both mRNA and protein levels and inhibited PMA-induced phosphorylation of PKCδ at Tyr (311) and subsequent translocation to the Golgi.

translocation


Input: Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.

proinsulin

hyperproinsulinemia

proinsulin

hyperproinsulinemia


Input: Knockdown of FGFR3 led to a decrease in phosphorylation of the downstream kinases mitogen-activated protein kinase (MAPK) and protein kinase B (PKB), which was more pronounced under hypoxic conditions.

hypoxic


Input: Inactivating mutations in the TSH receptor can be associated with severe TSH resistance presenting as congenital hypothyroidism with apparent athyreosis.

TSH receptor

athyreosis

TSH receptor

athyreosis


Input: Chk1 and Cdh1 activation was inhibited when polyploidy emerged in force, both of which are critical components for mitotic exit and cytokinesis.

polyploidy

polyploidy


Input: Twenty-four single nucleotide polymorphisms of 11 stress-related genes (COMT, CRHR1, FKBP5, GABRA6, HSD11β2, MAOA, NPY, NR3C1, SERPINA6, SLC6A4, and TPH2) were investigated in 220 healthy mothers of children with facial clefts and 210 matched controls using restriction fragment-length polymorphism and high-resolution melting analysis.

NPY

facial clefts


Input: Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.

Pseudomonas aeruginosa infection

Pseudomonas aeruginosa infection


Input: The study describes the stress response in the central cotyledon zone of placental tissue and in maternal whole peripheral blood to pregnancy related complications including gestational hypertension (n = 31), preeclampsia w or w/o fetal growth restriction (n = 95), and fetal growth restriction (n = 39) using real-time RT-PCR and genes encoding Hsp27, Hsp60, Hsp70, Hsp90 and HspBP1 proteins.

preeclampsia


Input: The traits included hemoglobin concentration (HGB), hematocrit (HCT), RBC count, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC).

MCH

mean corpuscular volume


Input: SMAD4 mRNA and protein levels were repressed by VPA (p < 0. 05), whereas the level of mono-ubiquitinated SMAD4 was increased (p < 0. 05).

mono


Input: Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.

PIGV

facial dysmorphism


Input: HIF-1α stabilization and the expression of VEGF isoform 165 and 121 in hypoxia were also reduced by the infection of lentiviral shRNA of TB4 in B16F10 cells.

VEGF

hypoxia


Input: Fluorescence in situ hybridization (FISH) was applied to neuroblastoma for detection of N-myc (MYCN) oncogene amplification, and the results were compared with Southern blot analysis (Southern).

FISH

neuroblastoma


Input: This relationship between increased claudin-4 expression and adverse outcome was validated at the mRNA level in a DNA microarray dataset of 295 breast tumours.

breast tumours

breast tumours


Input: The cell line (LS2) is derived from a pleomorphic liposarcoma that uses the alternative lengthening of telomeres (ALT) mechanism of telomere maintenance, which may be important in modulating the response of this tumor type to DNA-damaging agents.

pleomorphic liposarcoma


Input: In order to assess a role of B19 virus in haemophilic arthritis, synovial tissue samples from patients with haemophilia with arthritis and from patients, nonhaemophiliacs, with arthrosis or with joint trauma were examined for B19 DNA by nested PCR.

haemophilia


Input: We examined the association between diabetic retinopathy and monocyte chemoattractant protein (MCP)-1 A-2518G polymorphism in 3802 Japanese type 2 diabetic subjects.

MCP

diabetic retinopathy


Input: Whereas IGFBP5 enhanced adhesion, it inhibited cell migration, although this was not evident using the truncated C-terminal mutant, suggesting that effects of IGFBP5 on adhesion and migration involve different mechanisms.

adhesion


Input: Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferase.

amyloidosis

amyloidosis


Input: The HSL genotype was determined by PCR-RFLP and the lipase activity was detected by turbidometery in 164 fertile and 169 infertile males.

HSL

infertile


Input: Both a homozygote and heterozygote with this RK mutation had recovery phase abnormalities of rod-isolated photoresponses by electroretinography (ERG); photoactivation was normal.

ERG

abnormalities


Input: Specimens of the primary carcinoma were available for analysis of hormone receptor, Ki67 labelling index, epidermal growth factor receptor (EGFR), c-erbB-2, p53 and ras p21.

hormone receptor

primary carcinoma


Input: Functional analysis of the Tcl1 protein revealed its involvement in an Akt (protein kinase B) prosurvival pathway through its interaction with the Akt kinase, which promotes translocation of Akt to the nucleus and increases Akt' s enzymatic activity.

Akt' s

translocation


Input: The present report based on gated analysis of androgen receptor expression in nuclei isolated from archival formalin fixed/paraffin embedded breast tumors shows that receptor expression in aneuploid sub-populations is greater than that of the diploid cells.

androgen receptor

aneuploid


Input: Normal parathyroid glands had the highest p27 LI (89. 6 +/-1. 4), followed by hyperplasia (69. 6 +/-7. 5), adenomas (56. 8 +/-3. 4), and carcinomas (13. 9 +/-2. 6).

hyperplasia


Input: This conclusion was confirmed shortly after birth by normal serum AFP levels and the lack of increased spontaneous or clastogen-induced chromosome breakage in the infant' s cells.

AFP

chromosome breakage


Input: However, few studies have focused on the clinical relevance of MIF and cyclin D1 expression in hepatocellular carcinoma cells (HCCs).

MIF

hepatocellular carcinoma


Input: To shed more light on this issue, we comparatively investigated the impact of resveratrol and the synthetic STAC SRT1720 on the responsiveness of Ewing' s sarcoma (ES) cells to the chemotherapeutic drugs etoposide and vincristine.

STAC

sarcoma


Input: Subsequent FISH analysis demonstrated one of these to be an IGH/BCL2 translocation and one to be a CMYC/IGH translocation, while the translocation partners in the remaining two cases are currently unidentified.

translocation


Input: Heparanase, the sole mammalian endoglycosidase degrading heparan sulfate, is causally involved in cancer metastasis, angiogenesis, inflammation and kidney dysfunction.

Heparanase

kidney dysfunction


Input: We now report that an Arg-His substitution at residue 117 of the cationic trypsinogen gene is associated with the HP phenotype.

cationic trypsinogen

HP

cationic trypsinogen

HP


Input: TLR-4 not only responds to exogenous microbial motifs but can also recognize molecules which are released by stressed and necrotic cells, as well as degraded products of endogenous macromolecules.

necrotic


Input: PAR activation has been shown to have pro-tumourigenic effects including the production of matrix metalloproteinases that can promote tumour cell growth and metastasis, and transactivation of the epidermal growth factor receptor, which is a main target for cancer treatment.

PAR

metastasis


Input: Significantly diminished foci numbers coupled with massive senescence/growth arrest and elevated expression of cyclin-dependent kinase inhibitors (CDKIs) p21 (CIP1), p27 (kip1), and/or p16 (ink4a) occurred in RBP2-depleted gastric and cervical cancer cells.

cervical cancer


Input: Of 82 miRNAs that were modulated during tumor progression, 22 were involved in EMT.

EMT

tumor progression


Input: A stepwise multivariate linear regression analysis (R (2) = 0. 18, P < 0. 0001) retained menstrual dysfunction (beta = 0. 14, P = 0. 035), free testosterone (beta = 0. 14, P = 0. 052), insulin sensitivity index (beta =-0. 12, P = 0. 012), the His63Asp variant in HFE (beta = 0. 16, P = 0. 008), and abnormal glucose tolerance (beta = 0. 15, P = 0. 015) as significant predictors of the logarithm of ferritin levels, whereas CRP, haptoglobin, waist-to-hip ratio, or variants in the TNFalpha, TNFRSF1B, IL6, IL6ST, IL6Ralpha, PON1, and HFE Cys282Tyr mutation exerted no influence.

CRP

waist-to-hip ratio


Input: Partial reduction of Dnm2 in mice harboring Mtm1 mutations remarkably rescued muscle wasting and lethality, and this effect was muscle specific.

muscle wasting


Input: High-density lipoprotein cholesterol is related to the TaqIB cholesteryl ester transfer protein gene polymorphism and smoking, but not to moderate alcohol consumption in insulin-dependent diabetic men.

cholesteryl ester transfer protein

alcohol consumption


Input: our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder; (ii) these two disorders share common disease-related mechanisms linked to dopamine signalling; (iii) the expression of these genes is closely correlated; and (iv) DRD2 provides the initial trigger in the pathogenesis of these disorders.

schizophrenia

schizophrenia


Input: Haplotype analysis for the markers D13S115, D13S232, D13S292, D13S787, D13S1243 and D13S283 internal to and flanking the gamma-sarcoglycan gene showed the affected sisters shared haplotypes, indicating it was possible they were suffering from a gamma-sarcoglycanopathy.

gamma-sarcoglycan

gamma-sarcoglycanopathy

gamma-sarcoglycan

gamma-sarcoglycanopathy


Input: Oil red-O-positive lipid-rich lesion was reduced, which was accompanied by an increase of collagen fiber and decrease of necrotic core lesion in atherosclerotic plaque in ARIA/ApoE double-deficient mice.

ARIA

necrotic


Input: The neovascular effects of CTGF/CCN2 were mediated, at least in part, through increased expression and activity of matrix metalloproteinase (MMP)-2, which drives vascular remodeling through degradation of matrix and non matrix proteins, migration and invasion of endothelial cells, and formation of new vascular patterns.

vascular remodeling


Input: On the other hand, we were able to identify the R83H mutation in the KCNE3 gene in one sporadic case of THypoKPP, a man who had been asymptomatic until developing thyrotoxicosis caused by Graves' disease; we confirmed the disease-causing mutation in 2 of 3 descendants.

KCNE3 gene

sporadic


Input: Altogether, we suggest that Foxa1 could be a novel therapeutic target for NAFL disease and insulin resistance.

insulin resistance


Input: We identified 69 candidate genes, including genes involved in biliary transport (ATP8B1 and ABCB11), glucose, carbohydrate and lipid metabolism (FADS1, FADS2, GCKR, JMJD1C, HNF1A, MLXIPL, PNPLA3, PPP1R3B, SLC2A2 and TRIB1), glycoprotein biosynthesis and cell surface glycobiology (ABO, ASGR1, FUT2, GPLD1 and ST3GAL4), inflammation and immunity (CD276, CDH6, GCKR, HNF1A, HPR, ITGA1, RORA and STAT4) and glutathione metabolism (GSTT1, GSTT2 and GGT), as well as several genes of uncertain or unknown function (including ABHD12, EFHD1, EFNA1, EPHA2, MICAL3 and ZNF827).

inflammation


Input: We analyzed the expression of sarcolipin, phospholamban, cardiac calsequestrin and sodium calcium exchanger mRNAs in the right atrial myocardium from nine patients with mitral valvular disease with atrial fibrillation (MVD/AF), nine patients with MVD who had normal sinus rhythm (MVD/NSR), and 10 control patients with normal sinus rhythm who received open heart surgery (controls).

sarcolipin

mitral valvular disease


Input: autoimmune hepatitis, type 2 diabetes, a family history of HCC, hypothyroidism, and non-alcoholic steatohepatitis also show an increased risk of HCC compared to the general population.

HCC

autoimmune hepatitis


Input: We found that schizophrenia subjects homozygous for the MIR137HG risk allele show significant decreases in occipital, parietal and temporal lobe GMC with increasing miR-137-regulated GRS, whereas those carrying the protective minor allele show significant increases in GMC with GRS.

GRS

schizophrenia


Input: We found decreased striatal expression of transcripts encoding PSD-95 and SAP-102 in bipolar disorder and of SAP-102 in major depression and schizophrenia, while no significant changes in NF--L and PSD-93 mRNAs were observed.

major depression

major depression


Input: Research on the etiology and pathogenesis of sporadic Alzheimer' s disease (AD) has focused on the role of chemokines such as CX3CL1, on the triggering receptors expressed by myeloid cells (TREMs), especially TREM2, and on the transcription factor/nuclear hormone receptor peroxisome proliferator-activated receptor gamma (PPARγ).

sporadic


Input: We investigated the effect of the peroxisome proliferator-activated receptor-gamma (PPAR-gamma) agonist pioglitazone on growth and TRAIL-induced apoptosis in carcinoid cells.

TRAIL

carcinoid


Input: We analyzed the mutation and expression of the p51/p63 gene in 80 cases of chronic myelogenous leukemia (CML) to evaluate its role in blastic transformation.

chronic myelogenous leukemia


Input: PLD2 expression was also increased in ischemia-resistant CA3 neurons and dentate granule cells, although weaker staining intensity was noted.

ischemia


Input: Fenofibrate treatment significantly decreased serum RBP4 levels of dyslipidemic patients, which correlated with reduced body weight and increased insulin sensitivity.

body weight


Input: Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and & #945; Klotho).

Klotho

Hyperphosphatemic familial tumoral calcinosis

Klotho

Hyperphosphatemic familial tumoral calcinosis


Input: Fourteen days after the MCAO, there was a significantly lower infarct volume without aggravating cerebral edema in the group treated with VEGF gene-modified BMSCs compared with the control groups.

VEGF

infarct


Input: Glycogen synthase kinase-3 (GSK-3) is a serine/threonine protein kinase that interacts with the N-terminal region of DISC1 (aa 1-220) and has been implicated as an important downstream component in the etiology of schizophrenia.

serine/threonine protein kinase

schizophrenia

serine/threonine protein kinase

schizophrenia


Input: Expression of claudins 1, 4, 5, 7 and occludin was significantly increased in HCC specimens compared to non-neoplastic liver tissues and normal controls (p < 0. 001 in each case) Moreover, there was a statistically significant association between low level of claudin-4 and advanced tumor grade (p = 0. 03).

HCC

non-neoplastic


Input: Reintroduction of SGNE1 into the medulloblastoma cell line D283Med led to a significant growth suppression and reduced colony formation.

medulloblastoma

medulloblastoma


Input: The COL1A1/PDGFB translocation was detected in 93% of DFSP.

PDGFB

translocation


Input: Here, we show that mutations in INI1 that cause schwannomatosis target a hitherto unidentified N-terminal winged helix DNA binding domain that is also present in the BAF45a/PHF10 subunit of the SWI/SNF complex.

schwannomatosis


Input: Review of the literature indicates that recurrent mutations account for 25% of SCN1A mutations in severe myoclonic epilepsy of infancy, including six sites of deamination at CpG dinucleotides.

severe myoclonic epilepsy of infancy

severe myoclonic epilepsy of infancy


Input: We investigated TP53 pathway disruption in paediatric BL patient samples (n = 30) by studying MDM4, MDM2, and CDKN1A (p21) protein and mRNA expression; TP53 mutations; TP53 protein expression; and gene copy number abnormalities.

abnormalities


Input: We determined if mRNAs encoding presynaptic proteins enriched in inhibitory (vesicular gamma-aminobutyric acid transporter [VGAT] and complexin 1) and/or excitatory (vesicular glutamate transporter 1 [VGluT1] and complexin 2) terminals are altered in the dorsolateral prefrontal cortex of subjects with schizophrenia (n = 37 patients, n = 37 control subjects).

gamma-aminobutyric acid transporter

schizophrenia

gamma-aminobutyric acid transporter

schizophrenia


Input: ApoJ/Clusterin (CLU) is a heterodimeric protein localized in the nucleus, cytoplasm or secretory organelles and involved in cell survival and neoplastic transformation.

CLU

neoplastic transformation


Input: This pilot study enrolled children with fever without source and compared PD-L1 expression on myeloid cells to C-reactive protein, erythrocyte sedimentation rate, leukocyte counts, S100A12, S100A8, S100A9, calprotectin, and procalcitonin.

calprotectin

erythrocyte sedimentation rate


Input: Our results might indicate that polymorphisms of the EPO gene are associated with Japanese cedar pollinosis.

EPO gene

pollinosis


Input: We investigated whether oltipraz, a nuclear respiratory factor 2 alpha subunit (NRF2) activator, improves insulin sensitivity and prevents the development of obesity in mice.

insulin sensitivity


Input: MUC1/Y-expressing mammary tumor cells can be specifically targeted, in vivo, with the labeled cognate binding protein.

mammary tumor


Input: SPARC-induced autophagy was morphologically characterized by (i) the formation of membrane-bound autophagic vacuoles (AVOs), (ii) increase in the levels of microtubule-associated protein light chain 3 (LC3) and (iii) induction of the lysososmal enzyme cathepsin B. Cathepsin B, in turn induced mitochondrial release of cytochrome c and activated caspase-3, events that signify the onset of apoptotic cell death.

autophagic vacuoles


Input: The author described one patient showing characteristic MM phenotype with deficiency of dysferlin on immunohistochemistry.

dysferlin

MM

dysferlin

MM


Input: The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.

GFER

myopathy with cataract and combined respiratory-chain deficiency

GFER

myopathy with cataract and combined respiratory-chain deficiency


Input: 4) In PMA-stimulated B cells from an X91 + CGD patient in which p22phox was normally expressed and gp91phox was present but lacked five amino acids, translocation of p47phox to the membranes was unaffected, but p67phox and p40phox were poorly translocated, and the production of O2-was greatly reduced with respect to that by normal B cells.

CGD

CGD


Input: Our data suggest a valuable diagnostic impact of CTGF in serum for the follow-up of patients suffering from chronic liver diseases developing fibrosis, cirrhosis and finally HCC.

HCC

liver diseases


Input: After adjusting for age, sex, types of BDs, and serum concentration of VPA, the variation of GNB3 C825T remained significantly associated with the levels of serum leptin and body mass index (BMI; P & lt; 0. 001 and P = 0. 030, respectively).

BD

BD


Input: Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.

recessive dystrophic epidermolysis bullosa

recessive dystrophic epidermolysis bullosa


Input: Real-time reverse transcription-PCR analysis of total RNA derived from tumor tissues indicated strong up-regulation of both human and murine VEGF as well as other genes regulated by hypoxia.

VEGF

hypoxia


Input: A compound heterozygote for lipoprotein lipase deficiency, Val69--& gt; Leu and Gly188--& gt; Glu: correlation between in vitro LPL activity and clinical expression.

LPL

lipoprotein lipase deficiency

LPL

lipoprotein lipase deficiency


Input: We describe a case of recurrent myocardial infarction caused by coronary thrombosis in a patient with persistent thrombocytopenia who was found to have a coexistence of heterozygous factor V Leiden and primary antiphospholipid syndrome.

factor V Leiden

thrombocytopenia


Input: Accumulation of the DNA/RNA binding protein fused in sarcoma as cytoplasmic inclusions in neurons and glial cells is the pathological hallmark of all patients with amyotrophic lateral sclerosis with mutations in FUS as well as in several subtypes of frontotemporal lobar degeneration, which are not associated with FUS mutations.

RNA binding protein

sarcoma


Input: Two alternative groups of carcinomas, termed LOH + and RER +, have been defined on the basis of their genetic anomalies, a biallelic inactivation of the APC or the TGF-betaRII genes, occurring as an alternative, in LOH + or RER + tumors.

RER

carcinomas


Input: The unbalanced nature of the t (1; 16) (p11; p11. 1) indicates that gain of 1q and/or loss of 16q might be relevant for neoplastic transformation in a subset of MDS patients.

neoplastic transformation


Input: Inoculation of DeltavpuSHIV (KU-1bMC33) into two pig-tailed macaques resulted in a severe decline of CD4 (+) T cells and neurological disease in one macaque and a more moderate decline of CD4 (+) T cells in the other macaque.

neurological disease


Input: The inflammatory response in acyl-CoA oxidase 1 deficiency (pseudoneonatal adrenoleukodystrophy).

acyl-CoA oxidase 1

pseudoneonatal adrenoleukodystrophy

acyl-CoA oxidase 1

pseudoneonatal adrenoleukodystrophy


Input: Downregulation of JPH2 expression in a model of cardiac hypertrophy was recently associated with defective coupling between plasmalemmal L-type Ca (2 +) channels and sarcoplasmic reticular ryanodine receptors.

cardiac hypertrophy


Input: The aim of this study was to examine whether later childbearing can be explained by parental schizophrenia, and in doing so, further evaluate the " de novo mutation " hypothesis for the association between APA and NAP.

APA

schizophrenia


Input: Induction of PH-Tau triggered neuronal death (60% in CA3), astrocytosis, and loss of the processes in CA1.

astrocytosis


Input: Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population.

ATTR

familial amyloid polyneuropathy

ATTR

familial amyloid polyneuropathy


Input: A series of four randomized, double-blind, placebo-controlled Phase IIb screening Trials were developed to Investigate the Efficacy of Sorafenib (TIES) when added to select chemotherapies for patients with HER2-negative advanced BC with a primary endpoint of progression-free survival (PFS).

blind


Input: We suggest that AgRP improves uremic cachexia and muscle wasting by a peripheral mechanism involving the balance between myostatin and IGF-I.

AgRP

muscle wasting


Input: Researchers in recent studies have reported that the sonic hedgehog (Shh) signaling pathway plays a crucial role during tumorigenesis, angiogenesis and cellular differentiation.

sonic hedgehog

tumorigenesis


Input: A stepwise multivariate linear regression analysis (R (2) = 0. 18, P < 0. 0001) retained menstrual dysfunction (beta = 0. 14, P = 0. 035), free testosterone (beta = 0. 14, P = 0. 052), insulin sensitivity index (beta =-0. 12, P = 0. 012), the His63Asp variant in HFE (beta = 0. 16, P = 0. 008), and abnormal glucose tolerance (beta = 0. 15, P = 0. 015) as significant predictors of the logarithm of ferritin levels, whereas CRP, haptoglobin, waist-to-hip ratio, or variants in the TNFalpha, TNFRSF1B, IL6, IL6ST, IL6Ralpha, PON1, and HFE Cys282Tyr mutation exerted no influence.

waist-to-hip ratio


Input: The GALV. fus vector had significantly greater antitumor therapeutic potency than the beta-galactosidase vector in the U87 glioma xenograft model.

glioma