Input: In addition, the combined cancer genome expression metaanalysis datasets included PDE11A among the top 1% down-regulated genes in PCa.

cancer


Input: We conclude that the CYGB gene is regulated by both promoter methylation and tumour hypoxia in HNSCC and that increased expression of this gene correlates with clincopathological measures of a tumour' s biological aggression.

CYGB gene

aggression


Input: Thus, the role of SIVA in tumorigenesis remains unclear.

SIVA

tumorigenesis


Input: Polycystin-2 (PC2), encoded by the PKD2 gene, mutated in 10-15% of autosomal-dominant polycystic kidney disease (ADPKD) patients, is a Ca2 +-permeable cation channel present in kidney epithelia and other tissues.

polycystic kidney disease


Input: Mutations in the Mediterranean fever gene (MEFV) localized on the short arm of chromosome 16 cause FMF.

Mediterranean fever

FMF

Mediterranean fever

FMF


Input: On the other hand, despite remarkably increased plasma active GLP-1 levels (4. 2-fold increase), the ingestion of alogliptin, a selective dipeptidyl peptidase-4 inhibitor, over 3 days had no effects on food intake, body weight, blood glucose levels, and plasma Fgf21 levels in KKA (y) mice.

body weight


Input: Enforced PlGF expression in mice stimulates production of the potent vasoconstrictor endothelin-1, producing pulmonary hypertension.

PlGF

pulmonary hypertension


Input: Furthermore, p12 (CDK2-AP1) over-expression inhibited in vivo tumor growth in immunodeficiency mice, supporting an inhibitory role for p12 (CDK2-AP1) in breast cancer development.

immunodeficiency


Input: CMV infection of RPE cells induced translocation of NF-kappaB from the cytoplasm to the nucleus.

RPE

translocation


Input: Protein expression profiles of the CXC chemokines growth-related oncogene alpha (GRO-alpha/CXCL1), epithelial cell-derived neutrophil-activating peptide-78 (ENA-78/CXCL5), granulocyte chemoattractant protein-2 (GCP-2/CXCL6), neutrophil-activating protein-2 (NAP-2/CXCL7), and interleukin-8 (IL-8/CXCL8) were assessed by enzyme-linked immunosorbent assay in pancreatic carcinoma, cancer of the papilla of Vater, pancreatic cystadenoma, and chronic pancreatitis specimens.

chronic pancreatitis


Input: We focused on two biologically relevant gene categories: genes involved in non-HFE GH (TFR2, HAMP, and SLC40A1) and genes involved in the regulation of hepcidin expression, including genes from the bone morphogenetic protein (BMP) regulatory pathway (BMP2, BMP4, HJV, SMAD1, SMAD4, and SMAD5) and the IL6 gene from the inflammation-mediated regulation pathway.

inflammation


Input: Taken together, our findings identify YAP as a novel mediator of hypoxic-resistance to SN38.

YAP

hypoxic


Input: Adenoviral-mediated rescue of beta2-adrenergic receptor (beta2AR) function into the alveolar epithelium of beta1AR-/-/beta2AR-/-and beta1AR +/+/beta2AR-/-mice normalized distal lung beta2AR function, alveolar epithelial active Na + transport, and survival from hyperoxia.

hyperoxia


Input: Although more studies are necessary, our results suggest that UCP2 is not been used as a compensatory mechanism to oppose the higher levels of oxidative stress found in BD and SCZ.

SCZ

SCZ


Input: Taken together, our results provide the first demonstration of a novel mechanism by which AEG-1 induces proliferation of breast cancer cell, and our findings suggest that AEG-1 might play an important role in tumorigenesis of breast cancer.

tumorigenesis


Input: Effects of differences in polymorphism of gene encoding enzyme faenesyl diphosphate synthase (FDPS), rs2297480, on bone mineral density and biochemical markers of bone turnover in Thai postmenopausal women.

FDPS

bone mineral density


Input: In contrast, ATF3 or ATF4 overexpression in nucleus accumbens decreases emotional reactivity and increases depression-like behavior, consistent with the behavioral phenotype induced by CREB.

depression

depression


Input: In contrast, overexpression of TAZ in SK‑N‑SH human neuroblastoma cells was shown by Transwell migration and invasion assays, and western blot analysis, to result in epithelial‑mesenchymal transition (EMT) and increased invasiveness.

EMT

neuroblastoma


Input: Subsequent investigation of Rut acting targets indicates that as a specific protein tyrosine phosphatase 1B (PTP1B) inhibitor Rut induces basal GLUT4 translocation to some extent and largely enhances insulin-induced GLUT4 translocation through PI3 kinase-AKT/PKB pathway, while as an agonist of retinoid X receptor α (RXRα), Rut potently increases GLUT4 expression.

PKB

translocation


Input: This study investigates whether microsatellite instability (MSI) due to defects of the mismatch repair (MMR) system could be associated with response to cisplatin-based neoadjuvant chemotherapy (NACT) and if cisplatin exposure could select MSI-positive cell clones in cervical cancer.

MMR

microsatellite instability


Input: Histidine decarboxylase, DOPA decarboxylase, and vesicular monoamine transporter 2 expression in neuroendocrine tumors: immunohistochemical study and gene expression analysis.

Histidine decarboxylase

neuroendocrine tumors


Input: ATD is closely related to the short rib polydactyly syndrome (SRP) type III, which is a more severe condition characterized by early prenatal expression and lethality and variable malformations.

SRP

malformations


Input: The evidence that Jun/AP-1 proteins control inflammation in the skin is summarised in this article.

inflammation


Input: This study describes a novel partial deletion of the STS gene in an X-linked ichthyosis patient.

STS

X-linked ichthyosis

STS

X-linked ichthyosis


Input: We investigated immunohistochemical expression of vascular endothelial growth factor (VEGF), angiopoietins (Ang-1 and Ang-2), hypoxia-induced factor-1alpha (HIF-1alpha) and thrombospondin-1 (TSP-1) in 60 specimens of surgically resected HCC.

VEGF

hypoxia


Input: After viral infection, HSCARG interacted with tumor necrosis receptor-associated factor 3 (TRAF3) and inhibited its ubiquitination by promoting the recruitment of OTUB1 to TRAF3.

tumor necrosis


Input: The liver diseases include genetic and chemical-induced HCC, liver injury and regeneration, cirrhosis, and other types of liver diseases.

HCC

liver diseases


Input: In this study, we examined the expression of AQP in several commonly used human glioma cell lines (D54, D65, STTG1, U87, U251) and in numerous acute patient biopsies by PCR, Western blot, and immunocytochemistry and compared them to nonmalignant astrocytes and normal brain.

glioma


Input: miRNA profiling unsupervised analysis classified samples in unique clusters characterized by histological features (tumor/nontumor, P < 0. 001; benign/malignant tumors, P < 0. 01; inflammatory adenoma and focal nodular hyperplasia, P < 0. 01), clinical characteristics [hepatitis B virus (HBV) infection, P < 0. 001; alcohol consumption, P < 0. 05], and oncogene/tumor suppressor gene mutations [beta-catenin, P < 0. 01; hepatocyte nuclear factor 1alpha (HNF1alpha), P < 0. 01].

beta-catenin

alcohol consumption


Input: Previous studies revealed that the common sequence variant I148M in patatin-like phospholipase domain-containing protein 3 (PNPLA3) is associated with liver fat content and liver diseases, but not with insulin resistance.

insulin resistance


Input: An inverse correlation was present between MLH1 methylation and alcohol consumption.

alcohol consumption


Input: After the rats with acute hepatic failure were treated with recombinant pcDNA3-ALR plasmid, the survival rate (40%) significantly increased in treatment groups compared to control group (15%, P & lt; 0. 01).

ALR

acute hepatic failure

ALR

acute hepatic failure


Input: Chetomin treatment significantly reduced CA9 and VEGF mRNA expression in hypoxic cells to 44. 4 +/-7. 2% and 39. 6 +/-16. 0%, respectively, of untreated hypoxic controls.

VEGF

hypoxic


Input: Genetic deletion of LKB1 in various mouse tissues results in tumorigenesis, and loss of LKB1 increases metastasis in a mouse model of NSCLC.

tumorigenesis


Input: This juxtaposition of the bcl-2 and Ig lambda genes resembles a variant chromosome translocation in Burkitt' s lymphoma, although karyotype data of CLL 1446 is not available.

chromosome translocation


Input: The efficiency of the dry-heat process (100 degrees C) on inactivation of B19 spiked and lyophilized with fibrinogen, a major component of the clotting factor concentrate and hemostatic dressing products, was investigated by use of B19-specific LC RT-PCR infectivity assay.

fibrinogen


Input: Our study sheds light on the question of how the matrix molecule versican modulates tumorigenesis by affecting integrin and EGFR signals.

versican

tumorigenesis


Input: In addition, IKZF1 has been implicated in roles involved in some hematologic traits or abnormalities, such as erythrocyte measures, myelofibrosis, and acute lymphoblastic leukemia (ALL), which may be common clinical manifestations or co-occurrence hematological diseases of patients with SLE.

abnormalities


Input: Ski proto-oncogene-/-mice have phenotypes that resemble some of the features observed in patients with 1p36 deletion syndrome.

Ski proto-oncogene

1p36 deletion syndrome

Ski proto-oncogene

1p36 deletion syndrome


Input: Mutations in the sialidase gene NEU1, located on chromosome 6p21. 3, result in autosomal recessive disorder, sialidosis, which is characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides.

sialidosis

sialidosis


Input: These direct effects of GnRHa on the number of viable cultured leiomyoma cells, PCNA-positive rate, apoptosis-positive rate and Fas/Fas ligand expression in the cultured leiomyoma cells were only attained after the 4-day treatment.

Fas ligand

leiomyoma


Input: Because some of these patients present clinical features similar to those of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA), an inherited connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1, we studied seven patients with Nevo syndrome, three of whom have previously been reported, and four of whom are new.

Nevo syndrome

Nevo syndrome


Input: Fluorescence in situ hybridization on paraffin-embedded tissue sections (T-FISH) identified a translocation of BCL2 with IGH gene.

translocation


Input: Cell protection assay and temporal antiviral studies showed that HD5 and its mutants displayed affirmatory but differential anti-HSV-2 effects in vitro by inhibiting viral adhesion and entry.

adhesion


Input: Individuals with visceral leishmaniasis, or kala azar (KA) and individuals with post-KA dermal leishmaniasis (PKDL) are considered to be reservoirs of transmission of Leishmania donovani in India.

PKDL

leishmaniasis


Input: BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

BGN

X-Linked Spondyloepimetaphyseal Dysplasia

BGN

X-Linked Spondyloepimetaphyseal Dysplasia


Input: Knockdown of the ANLN gene in zebrafish morphants caused a loss of glomerular filtration barrier integrity, podocyte foot process effacement, and an edematous phenotype.

ANLN gene

podocyte foot process effacement


Input: Iodotyrosine deiodinase is a thyroidal enzyme that deiodinates mono-and di-iodotyrosines (MIT, DIT) and recycles iodine, a scarce element in the environment, for the efficient synthesis of thyroid hormone.

Iodotyrosine deiodinase

mono


Input: In contrast, B1R mRNA was not detected in control rat urinary bladder; however, following acute (24 h) and chronic (8 day) CYP-induced cystitis in the rat, B1R mRNA was detected throughout the bladder.

cystitis


Input: Tumor necrosis factor-alpha and interferon (IFN)-gamma inflammatory cytokines had no or mild effect on MUC4 transcriptional activity when used alone.

mild


Input: These results confirm that ADULT syndrome is a clinically as well as molecularly distinct member of the expanding p63 mutation family of human malformation syndromes.

ADULT syndrome

ADULT syndrome


Input: HGF and chemical hypoxia with CoCl2 cooperatively promoted in vitro invasion and vascular endothelial growth factor (VEGF) secretion, while CoCl2 but not HGF activated urokinase-type plasminogen activator and matrix metalloproteinase 2, both of which promote invasion and angiogenesis.

VEGF

hypoxia


Input: 17-AAG, a heat shock protein 90 (HSP-90) inhibitor, was shown to modulate the expression of several diverse cancer-associated genes, including ADAMTS1, part of the query signature, and maspin, an HSP-90-associated protein with a tumor suppressor role in HCC.

HCC

HCC


Input: The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities.

SRP

abnormalities


Input: Further, overexpression of nuclear-localized p44 stimulates proliferation and invasion in ovarian cancer cells in the presence of estrogen or androgen.

ovarian cancer

ovarian cancer


Input: Crigler-Najjar syndrome type I (CN I) is a rare autosomal recessive disorder due to hepatic dysfunction of uridine diphospho-glucuronosyltransferase (UGT) activity toward bilirubin.

UGT

hepatic dysfunction


Input: The results showed that RhoC, IQGAP1 and the C-terminal fragment of IQGAP1 significantly stimulated the proliferation of gastric cancer cells, and enhanced the expression of cyclin E and cyclin D1.

RhoC

gastric cancer


Input: The clinicopathological factors including age, sex, tumor location, size, gross appearance, stromal reaction pattern, degree of cellular differentiation, histological classification, depth of tumor invasion, lymph node status, peritoneal dissemination, liver metastasis and TNM stage were analyzed according to the different expression of CD40.

liver metastasis


Input: The insulin sensitivity indices HOMA-IR (homeostasis model assessment of insulin resistance), ISI-COMP (whole body insulin sensitivity index), ISI-HOMA (hepatic insulin sensitivity), and DELTA (early secretory response to an oral glucose load) were calculated.

COMP

insulin resistance


Input: In 99 patients receiving IV fentanyl, midazolam, or both, we evaluated drug doses, covariates likely to influence drug effects (age, body mass index, and renal and hepatic dysfunction); delirium risk factors; concomitant administration of CYP3A and P-glycoprotein substrates/inhibitors; ABCB1, ABCG2, and CYP3A5 genetic polymorphisms; and fentanyl and midazolam plasma levels.

hepatic dysfunction


Input: These findings elicit that HHcy induces cardiac hypertrophy by promoting MEF2C-HDAC1 complex formation that inactivates MEF2C causing suppression of anti-hypertrophy miR-133a in cardiomyocytes.

hypertrophy


Input: Platelet adhesion to ferric chloride-treated mesenteric arterioles in IL4Ralpha/GPIbalpha-tg mice was virtually absent in contrast to avid adhesion in WT mice.

GPIbalpha

adhesion


Input: Accordingly, CNK1 is found preferentially at the plasma membrane in carcinoma in situ and invasive breast cancer tumours compared with normal breast tissue sections.

invasive breast cancer


Input: Low BIK outside-inside-out interactive inflammation immune-induced transcription-dependent apoptosis through FUT3-PMM2-SQSTM1-SFN-ZNF384.

BIK

inflammation


Input: When analyzed by histology the GSTM1 null genotype was more prevalent in squamous-cell carcinoma and adenocarcinoma patients.

carcinoma


Input: In addition, CRB1 mutations were detected in five of nine patients who had RP with Coats-like exudative vasculopathy, a relatively rare complication of RP that may progress to partial or total retinal detachment.

retinal detachment

retinal detachment


Input: These identified proteins, which include stratifin (14-3-3), transgelin 2, heat-shock protein (HSP) 70, HSP27, manganese superoxide dismutase, prohibitin, DJ1, & #945;-enolase, peroxiredoxin 6, aldo-keto reductase family member B10, phosphoglycerate kinase 1, & #945;-1-antitrypsin and nm23-H1, may play a role in the development of HCC.

HCC

HCC


Input: We demonstrate that the mechanical hyperalgesia induced by intradermal injection of BK can be blocked by the kappa-opioid agonist trans-3, 4-dichloro-N-methyl-N [2-(-pyrrolidinyl) cyclo-hexyl] benzeneacetamide (U50, 488H) and by the delta-opioid agonist (D-Pen2, 5)-enkephalin (DPDPE), as well as the mu-opioid agonist Tyr-D-Ala-Gly-NMe-Phe-Gly-ol (DAMGO).

BK

mechanical hyperalgesia

BK

mechanical hyperalgesia


Input: Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Mitochondrial Complex I Deficiency

Mitochondrial Complex I Deficiency


Input: We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals.

ADCA-DN

ADCA-DN


Input: Rearrangements of c-myc are associated with Burkitt' s lymphoma and of bcl-2 with centroblastic/centrocytic lymphoma.

c-myc

centrocytic lymphoma


Input: Similar to Abca4 (-/-) mice, Abca4 (PV/PV) mice showed substantial A2E and lipofuscin accumulation in their RPE cells but no retinal degeneration up to 12 months of age.

retinal degeneration


Input: Diagnostic value of cytokeratin 7 and parvalbumin in differentiating chromophobe renal cell carcinoma from renal oncocytoma.

cytokeratin 7

chromophobe renal cell carcinoma

cytokeratin 7

chromophobe renal cell carcinoma


Input: We found no evidence of a substantial involvement of these nine CYB5A or CYB5R3 polymorphisms in sulfonamide hypersensitivity risk, although minor effects cannot be completely ruled out.

hypersensitivity


Input: These results suggest that X chromosome abnormalities contribute to the pathogenesis of BLC, both inherited and sporadic.

BLC

chromosome abnormalities


Input: Hereditary retinoblastoma constitutes a cancer predisposition syndrome: a subject constitutionally carrying an RB1 gene mutation has a greater than 90% risk of developing retinoblastoma but is also at increased risk of developing other types of cancers. Diagnosis is made by fundoscopy.

Hereditary retinoblastoma

Hereditary retinoblastoma


Input: Lentivirus-mediated RNAi of signal transducer and activator of transcription 1 (STAT1) expression abolished the inhibitory effect of IFNgamma on hypoxia-induced reporter gene activity.

hypoxia


Input: The hybridization pattern for VEGF mRNAs was consistent with hypoxia-induced VEGF mRNA steady-state levels and supports the hypothesis that oxidative stress regulates VEGF expression in breast tumors.

VEGF

hypoxia


Input: A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.

peripheral neuropathy, myopathy, hoarseness, and hearing loss

peripheral neuropathy, myopathy, hoarseness, and hearing loss


Input: We, thus, analysed serum HE4 concentrations together with a tumour marker CA125 in serum samples of women diagnosed with various types of endometriosis, endometrial cancer or ovarian cancer, and in samples from healthy controls.

endometriosis


Input: We investigated mechanisms by which SIRT1 controls hepatic steatosis in mice.

hepatic steatosis

hepatic steatosis


Input: We administered a soluble form of VEGF receptor-expressing gene incorporated into adenovirus (AdVEGF-ExR) intraperitoneally to nude mice to which oral cancer cell lines (SAS, HSC-3, and Ca9-22) had been transplanted subcutaneously in vivo to inhibit angiogenesis and tumor proliferation.

SAS

oral cancer


Input: The positive rate and PKR score were significantly higher in papillary carcinoma (75 of 80, 94%, PKR score = 4. 47 +/-2. 17) than in nonpapillary carcinomas (2 of 6, 33%, PKR score = 1. 50 +/-2. 81).

PKR

carcinomas


Input: It has already been suggested that beta-3 adrenergic (ADRB3) agonists might be of interest in the pharmacological management of preterm labor.

preterm labor


Input: Q (2) ChIP of the transcription factor Oct4 demonstrates its dissociation from the NANOG promoter upon differentiation.

dissociation


Input: Our results establish that central CRF is a key modulator of pain behavior and indicates that CRF effects on nociception are largely independent of its mood modulating effect as well as its control of the HPA axis.

CRF

pain

CRF

pain


Input: In vitro, EAPP significantly reduced NF-κB activation and the levels of IL-1β and IL-8 mRNA and pro-survival proteins in HT-29 and HCT-116 colon cancer cells.

EAPP

colon cancer


Input: In a subsequent candidate gene study based on the phenotypic similarity, we found that B3GALT6 is also responsible for a connective tissue disease, Ehlers-Danlos syndrome (progeroid form).

Ehlers-Danlos syndrome (progeroid form

Ehlers-Danlos syndrome (progeroid form


Input: These findings suggested that in the hypoxic/ischemic regions, VEGF and KDR expression is increased within the villous vessels by paracrine regulation, whereas the expression of PlGF and Flt-1 is enhanced in villous trophoblasts by autocrine regulation.

VEGF

hypoxic


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.

hypoxia


Input: The benefit of annual MRI surveillance on reducing breast cancer mortality in BRCA1 mutation carriers remains to be proven.

MRI

breast cancer


Input: Although consistent evidence of association with any single variant was not seen across samples, SNP-wise and gene-based test results in the three samples provided convergent evidence for association with SLC22A16, a carnitine transporter, implicating this gene as a novel candidate for BPI risk.

BPI

BPI


Input: Thus, in a random adult population with invasive pneumococcal infection, MBL does not seem to play a role in the pathophysiology, in contrast to earlier observations in patients with other concomitant immune abnormalities.

MBL

abnormalities


Input: Dystroglycan is a protein which binds directly to two proteins defective in muscular dystrophies (dystrophin and laminin alpha2) and whose own aberrant post-translational modification is the common aetiological route of neuromuscular diseases associated with mutations in genes encoding at least six other proteins (POMT1, POMT2, POMGnT1, LARGE, FKTN and FKRP).

LARGE

neuromuscular diseases


Input: It also showed that PKHD1 might be a major gene for CD.

CD

CD


Input: We raise the possibility that the presence or absence of structural disorganization when mutant actin incorporates into sarcomeres may be an important determinant of whether the histological patterns of CFTD or NM develop in ACTA1 myopathy.

CFTD

CFTD


Input: Here we identify the downstream of tyrosine kinase (Dok) family members Dok1, Dok2 and Dok3 as lung tumor suppressors.

lung tumor

lung tumor


Input: Under hypoxic conditions, the expression of ADM was significantly elevated in a time-dependent manner in human bladder cancer cell lines.

ADM

hypoxic


Input: We suggest that both soluble PAPP-A in ascites and tissue-associated PAPP-A serve to increase IGF bioactivity and, thereby, to stimulate IGF-IR-mediated tumor growth.

IGF

ascites


Input: FUS was screened for mutations in familial and sporadic ALS cases.

FUS

sporadic


Input: HIF-1alpha and hypoxia-induced vascular endothelial growth factor (VEGF) increase in cultured cells were greatly abolished by pSUPER (siHIF-1alpha).

VEGF

hypoxia


Input: Protease activated receptor-2 (PAR-2) has been implicated in cellular proliferation, invasion and metastasis in various tumors.

PAR

metastasis


Input: We conclude that myeloid lineage produced ephrin B1 is a negative regulator of bone resorption in vivo, and that activation of ephrin B1 reverse signaling inhibits osteoclast differentiation in vitro in part via a mechanism that involves inhibition of NFATc1 expression and modulation of phosphorylation status of ezrin/radixin/moesin.

radixin

bone resorption


Input: To determine whether survivin inhibition induces cell death in neural tumor cells, survivin antisense oligonucleotides (SAO) were administered to a human neuroblastoma (MSN) and an oligodendroglioma (TC620) resulting in a dose-dependent reduction in survivin protein.

MSN

oligodendroglioma


Input: We identified 13 common genes (ADARB2, CEACAM6, CNTNAP2, COL19A1, DEF4, DRAXIN, FCER2, HBG1, NCAPG2, PVRL2, SLC2A14, SNCA, and TCL1B) showing significant differential expression between G2019S-associated PD and asymptomatic carriers and also between idiopathic PD and controls but not between untreated and treated patients.

asymptomatic


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.

hypoxia


Input: Women with mutations in BRCA1 or BRCA2 are at high risk of developing breast cancer and, in British Columbia, Canada, are offered screening with both magnetic resonance imaging (MRI) and mammography to facilitate early detection.

MRI

breast cancer


Input: Medullary sponge kidney (MSK) is a rare nephropathy characterized by cystic anomalies of precalyceal ducts, nephrocalcinosis, renal stones, and tubule dysfunctions.

MSK

nephropathy


Input: The distribution of JAK2 rs2203724 and STAT3 rs1053023 genotypes were in Hardy-Weinberg equilibrium (HWE) in both communities, while mild deviation from HWE was noted for rs1053004 in Tunisians but not Bahraini.

mild


Input: Mutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes.

EI

EI


Input: There is a significant interaction between ACP1, body mass index, and blood lipid level.

body mass index


Input: The association between TYRO3 and MERTK variants and carotid atherosclerosis found in this study reinforces a physiological role of the GAS6-TAM pathway in atherogenesis.

MERTK

atherogenesis


Input: We also measured the expression of JMJD1A and two hypoxia factors glucose transporter 1 (GLUT1) and vascular endothelial growth factor (VEGF) in 786-0 and HEK293 cells treated with different concentrations of NiCl (2) (2. 5-100 μM) for 24 h, and found that JMJD1A mRNA and protein were up-regulated with increased concentrations of NiCl (2).

VEGF

hypoxia


Input: The results of real-time PCR analyses showed that Ang1 is highly expressed in leukemia cell lines and primary AML cells with EVI1 (high) expression.

leukemia


Input: This study suggests that FTO may have an important role for gender specific development of severe obesity and insulin resistance in children.

FTO

insulin resistance


Input: Chromosomal abnormalities commonly found are trisomy 12, del (13) (q14), del (11) (q22-23), del (17) (p13) and del (6) (q21).

trisomy 12


Input: We identified a previously unknown downstream target of β-catenin, HAS2, in prostate cancer, and found that high β-catenin nuclear localization and low or no AR expression may define a subpopulation of men with bone metastatic prostate cancer.

metastatic prostate cancer


Input: Integrin-linked kinase has a critical role in ErbB2 mammary tumor progression: implications for human breast cancer.

Integrin-linked kinase

mammary tumor


Input: These results show: (1) a protective effect of-116A and K variants on juvenile obesity risk, suggesting a role for the BCHE gene on juvenile onset obesity different from that observed on adult onset obesity and (2) an association of the-116A variant with hypertriglyceridemia in obese adolescents probably because of its effect on lowering BChE activity and consequently diminishing the enzyme capability of maintaining homeostasis on lipid metabolism during the metabolic stress caused by obesity.

BCHE

hypertriglyceridemia

BCHE

hypertriglyceridemia


Input: The deletion of proline at alpha37 (C2) is predicted to result in severe instability of the variant hemoglobin, which on interaction with a synthesis-deficient alpha-thalassemia mutation causes a relatively severe dyserythropoietic anemia, representing an alternative phenotype associated with highly unstable alpha-chain variants.

alpha-chain

alpha-thalassemia


Input: We included 111 consecutive cirrhotic patients hospitalized with ascites and we determined the presence of the TLR4 D299G polymorphism by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) and its relationship with the incidence of previous bacterial infections.

ascites


Input: Dual depletion of Mbnl1 and Mbnl3 therefore initiates both Clc-1 splice errors and translation defects to synergistically enhance myotonia.

myotonia


Input: These findings suggest that, in bronchial epithelial cells, CSE promote a prevalent induction of pro-inflammatory BLT2 receptors and activate mechanisms leading to increased neutrophil adhesion, a mechanism that contributes to airway neutrophilia and to tissue damage.

neutrophilia


Input: We will perform the transmission/disequilibrium test (TDT) on candidate genes thought to be important in each of the four biological pathways of PTD: (1) decidual chorioamionotic inflammation: interleukin 1 (IL-1), IL-6, and tumour necrosis factor (TNF); (2) maternal and fetal stress: corticotropin-releasing hormone (CRH); (3) uteroplacental vascular lesions: methylenetereahydrofolate reductase (MTHFR); and (4) susceptibility to environmental toxins: GSTM1, GSTT1, CYP1A1, CYP2D6, CYP2E1, NAT2, NQO1, ALDH2, and EPHX.

inflammation


Input: We found that skin-infiltrating lymphocytes isolated from different benign and malignant skin lesions (n = 20) contain a high portion of CD7-helper T cells, whereas the number of CD7-T cells in the peripheral blood was not altered compared to healthy controls.

skin lesions


Input: We found a significant genotype effect (all P ≤ 0. 017) for the following smoking-related phenotypes: (i) cigarettes smoked per day and CYP2A13 * 3; (ii) pack years smoked and CYP2A6 * 2, CYP2A6 * 1 × 2, CYP2A13 * 7, CYP2B6 * 4 and DRD2-ANKK1 2137G > A (Taq1A); (iii) nicotine dependence (assessed with the Fagestrom test) and CYP2A6 * 9.

smoking


Input: PDE3A mutations cause autosomal dominant hypertension with brachydactyly.

hypertension with brachydactyly

hypertension with brachydactyly


Input: The levels of various chemokines (MIP-1α, MCP-1, IL-8 and IP-10) and chemokine receptors (CXCR1, CXCR2 and CCR1) in neutrophils from healthy individuals and pulmonary tuberculosis patients were studied following infection with Mycobacterium tuberculosis strains (clinical--S7 and S10 and laboratory--H37Rv).

pulmonary tuberculosis


Input: BCL2 translocation defines a unique tumor subset within the germinal center B-cell-like diffuse large B-cell lymphoma.

translocation


Input: Therefore, we also examined the effects of hypoxia on expression of nestin in human MSCs and examined a role for hypoxia inducible factor 1-alpha (HIF-1α) and vascular endothelial growth factor (VEGF) in the response.

VEGF

hypoxia


Input: Puerarin can effectively attenuate liver lipid disorder and inflammation by improving the leptin resistance and enhancing the expressions of leptin receptor mRNA and P-JAK2/P-STAT3 proteins.

lipid disorder


Input: MMP-9/RECK imbalance during cervical inflammation induced by C. trachomatis might play a role in HPV-mediated cervical carcinogenesis.

RECK

inflammation


Input: Furthermore, injection of SIRT1 lentivirus in the hippocampus of p25 transgenic mice conferred significant protection against neurodegeneration.

neurodegeneration

neurodegeneration


Input: Because the patient did not have any of the three mutations previously described in other Japanese patients with HHH syndrome, and the only material available from the patient was peripheral leukocytes, we established a genomic polymerase chain reaction method using intronic primers to amplify every exon of the ORNT1 gene, and we directly sequenced the polymerase chain reaction products.

HHH syndrome

HHH syndrome


Input: Identification of a human VPF/VEGF 3' untranslated region mediating hypoxia-induced mRNA stability.

VEGF

hypoxia


Input: The inhibition of TXS caused the cell death and apoptosis of lung cancer cells, likely via the elevation of the nuclear p27 since the TXS inhibition promoted the nuclear p27 level and the inhibition of p27 by its siRNA recovered the cell death induced by TXS inhibition.

TXS

lung cancer


Input: Taken together, these results demonstrate that KLF5 plays an important role in the control of SMC phenotype after vascular injury and suggest the feasibility of using Am80, delivered systemically and/or with a drug eluting stent, to prevent in-stent neointima formation.

neointima formation

neointima formation


Input: In a multivariate logistic regression analysis including age, sex, smoking, diabetes, arterial hypertension and hypercholesterolemia, the FGG 10034 T variant was not significantly associated with the presence of PAD (Odds ratio 1. 07, 95% confidence interval 0. 84-1. 37; p = 0. 60).

FGG

hypercholesterolemia


Input: Serum samples collected from 446 patients, including 181 with chronic active hepatitis C, 50 with autoimmune chronic hepatitis, 117 in hemodialysis, 30 asymptomatic carriers of anti-HCV and 68 with indeterminate serology (RIBA indeterminate results), as well as from 121 controls were tested with the commercial, single-step assay and with nested polymerase chain reaction.

RIBA

autoimmune chronic hepatitis


Input: SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.

AMISYN

autism

AMISYN

autism


Input: Chronic infusion of enalaprilat into hypothalamic paraventricular nucleus attenuates angiotensin II-induced hypertension and cardiac hypertrophy by restoring neurotransmitters and cytokines.

angiotensin II

cardiac hypertrophy

angiotensin II

cardiac hypertrophy


Input: To determine whether this reduction extends to other brain regions, we measured the expression levels of BDNF, trkB-TK + and GAD67 mRNA in regions of the hippocampus, including the dentate gyrus (DG), cornu ammonis subfields (CA1-4), subiculum and entorhinal cortex (EC) of individuals with schizophrenia, bipolar disorder, major depression and unaffected controls.

bipolar disorder


Input: Neuroendocrine tumors (NET) represent potential targets of antifolate agents, but no data on TS expression level in these tumors are currently available.

TS

Neuroendocrine tumors

TS

Neuroendocrine tumors


Input: Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

autosomal dominant centronuclear myopathy

autosomal dominant centronuclear myopathy


Input: While evaluating the abnormalities in alphaGC-induced immune responses, we observed that Sh2d1a-/-animals lacked NKT cells in the thymus and peripheral organs.

abnormalities


Input: Interleukin-17A (IL-17A) and IL-17F play a role in tissue inflammation by inducing release of proinflammatory and neutrophil-mobilizing cytokines.

inflammation


Input: Interestingly, a patient had also had a miscarriage during her first pregnancy. Gene testing revealed an heterozygous deletion spanning from the 5'-UTR to intron 4 of SPAST in the affected individuals and in one clinically unaffected woman.

SPAST

miscarriage


Input: The mutant LPLs, Asp156----Gly and Asp156----Gly/Ser447----Ter, were devoid of enzyme activity, indicating that the Asp156----Gly mutation is the underlying defect for the LPL deficiency in the two patients.

LPL

LPL deficiency

LPL

LPL deficiency


Input: This suggests that in contrast to VEGF Fas expression is not induced by ischemia/hypoxia.

VEGF

hypoxia


Input: Advanced colorectal cancer specimens (n = 97) were prepared for immunohistochemical staining using monoclonal antibodies against TP, p53, vascular endothelial growth factor (VEGF), factor VIII, CD68 and thymidylate synthase (TS).

TP

colorectal cancer

TP

colorectal cancer


Input: Of 35 ALL patients, we found an incidence of 8. 6% of TEL/AML1 translocation in ALL patients (12% of B-lineage ALL), which is lower than that reported in caucasians but is similar to that reported in Japanese and Koreans.

translocation


Input: Our findings unequivocally demonstrate that direct targeting of GRM1 is a necessary and highly specific driver event for CMF development.

CMF

CMF


Input: These data provide evidence for an association between NOS3 and preeclampsia.

preeclampsia


Input: X-linked CSNB patients may exhibit myopia, nystagmus, strabismus and ERG abnormalities of the Schubert-Bornschein type.

ERG

abnormalities


Input: Polymorphisms in the circadian genes NPAS2, ARNTL, and RORA were also suggested to contribute to depression vulnerability.

depression

depression


Input: Tumours from an affected family member are usually pre-screened for microsatellite instability (MSI) and/or loss of immunohistochemical expression of mismatch repair (MMR) genes prior to germline MMR gene mutation testing.

MMR

microsatellite instability


Input: We suggest adding genetic analysis of FDX1L in cases of mitochondrial myopathy especially when associated with reduced activity of the respiratory chain complexes I, II and III.

mitochondrial myopathy

mitochondrial myopathy


Input: Yeast two-hybrid cloning identified metastasis-associated GPI-anchored C4. 4a protein and extracellular alpha-dystroglycan (DAG-1) as binding partners for both hAG-2 and hAG-3, which if replicated in clinical oncology would demonstrate a potential role in tumour metastasis through the regulation of receptor adhesion and functioning.

DAG

adhesion


Input: Our strategy also can be broadly applied to induce sporadic in vivo loss of heterozygosity of any conditional alleles in progenitors that experience Notch1 activation.

sporadic


Input: We have analyzed 114 HLA DRB1 and 26 HLA-DQB1 alleles in 21 patients with anaphylactoid reactions caused by NSAIDs, 47 patients who had exclusively cutaneous reactions during single-blind, placebo-controlled oral challenges with NSAIDs, and 167 tolerant control subjects (29 of whom had also had an IgE-mediated anaphylaxis to different agents).

blind


Input: Overall, these observations provide novel information on the mechanism of the EMT program in tumor progression and indicate CDH6 as a potential regulator of invasiveness in thyroid tumors.

EMT

tumor progression


Input: Several studies have evaluated in patients with colon cancer, either the role of genes involved in the 5-FU pathway, such as thymidylate synthase (TS), thymidine phosphorylase (TP) and dihydropyrimidine dehydrogenase (DPD) or the role of microsatellite instability (MSI) as prognostic or predictive markers for adjuvant chemotherapy efficacy, with discordant results.

DPD

microsatellite instability


Input: In the t (14; 18) translocation bearing cell line SU-DHL-6, this results not only in an inappropriately high rate of bcl-2 transcription for a mature B cell, but also in two potentially critical point mutations.

translocation


Input: The t (14; 18) chromosomal translocation of human follicular lymphoma recombines the bcl-2 gene from chromosome 18 with the immunoglobulin heavy chain joining region.

bcl-2 gene

chromosomal translocation


Input: Although the protein for the HM74 receptor was unchanged, the protein for HM74A was significantly decreased in the schizophrenia group, both when normalized to GAPDH protein or to HM74 as an internal control for degradation and gel-loading error (0. 56-fold +/-0. 36, p = 0. 016 and 0. 58-fold +/-0. 19 the mean control value, p = 0. 001, respectively).

schizophrenia

schizophrenia


Input: All the dehydrated hereditary stomatocytosis-associated mutations locate at C-terminal half of PIEZO1.

dehydrated hereditary stomatocytosis

dehydrated hereditary stomatocytosis


Input: Biopsy specimens (bone marrow and gastrointestinal mucosa) of a 69 year old woman with mild blood lymphocytosis and a history of urticaria pigmentosa-like skin lesions that had disappeared a few years earlier, were investigated immunohistochemically using antibodies against CD3, CD5, CD20, CD23, CD25, CD34, CD117, chymase, and tryptase.

mild


Input: Here, we found that genetic and pharmacological inactivation of pyruvate dehydrogenase A1 (PDHA1), a subunit of the pyruvate dehydrogenase complex (PDC), inhibits prostate cancer development in mouse and human xenograft tumor models by affecting lipid biosynthesis.

prostate cancer

prostate cancer


Input: In addition, " knockdown " of HIF-1alpha by RNA interference only minimally inhibited the hypoxic induction of VEGF.

VEGF

hypoxic


Input: Cox-regression survival analysis indicates that OTUB1 overexpression is linked to poorer outcome in particular in patients treated with chemotherapy.

regression


Input: Targeted disruption of the leukotriene B (4) receptor in mice reveals its role in inflammation and platelet-activating factor-induced anaphylaxis.

leukotriene B (4) receptor

anaphylaxis

leukotriene B (4) receptor

anaphylaxis


Input: Exonic, splice site, and untranslated regions of BMPR1A, BMPR2, and SMAD6 genes were sequenced in 90 unrelated sporadic cases of CVM.

sporadic


Input: A regression model to predict warfarin dose from clinical variables and polymorphisms in CYP2C9, CYP4F2, and VKORC1: Derivation in a sample with predominantly a history of venous thromboembolism.

regression


Input: IAPP may also act as a hormone that antagonizes the effects of insulin on peripheral tissues, but the results with IAPP overproducing transgenic mice and other recent findings indicate that IAPP overproduction is unlikely to induce peripheral insulin resistance in NIDDM.

IAPP

insulin resistance


Input: To further explore the mechanism of TF-mediated metastasis, we investigated the possibility that a protease-activated receptor (PAR) might play a role.

PAR

metastasis


Input: The baseline renal function was reduced in RLIP76 (-/-) mice as compared with wild-type, but was unaffected by HFD, in marked contrast to severe renal impairment and glomerulopathy in the wild-type mice given HFD.

glomerulopathy


Input: Inherited mutations of the Fas/Apo1/CD95 gene, a cell-surface receptor involved in cell death signaling and in the control of self-reactivity, characterize the recently identified autoimmune lymphoproliferative syndromes.

autoimmune lymphoproliferative syndromes

autoimmune lymphoproliferative syndromes


Input: NER (plaque) (determined on inversion-recovery fast spin echo images) remained high (∼ 2) until 48 h after injection of CB2-R targeted micelles, whereas NER (plaque) decreased after 36 h in the control group.

NER

plaque


Input: This may explain the milder leukemic phenotype in most patients with CML-N. A review of all 23 patients who had an e19/a2 type BCR/ABL translocation suggested that the low level of p230 BCR/ABL mRNA and the lack of detectable p230 BCR/ABL protein in patients with no additional cytogenetic abnormalities may predict their indolent clinical course.

cytogenetic abnormalities


Input: To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics of mesenchymal tumors of gastrointestinal tract (GIT), 11 cases of KIT/PDGFRA wt GISTs, 12 gastric schwannomas (GSs), 20 solitary fibrous tumors (SFTs), 4 leiomyomas (LMs), 16 leiomyosarcomas (LMSs), 5 synovial sarcomas (SSs), 3 endometrioid stromal sarcomas (ESSs), and 1 ileal inflammatory myofibroblastic tumor (IMT) were investigated for SDHB immunoexpression together with molecular genetic analysis of genes encoding succinate dehydrogenase (SDH).

ESSs

tumors


Input: These results suggest that polymorphisms of ABCA1 and ROS1 are determinants of blood pressure and the development of hypertension in Japanese individuals.

blood pressure


Input: This observation points to the possibility that deletion of 10q23-24 and loss or decreased expression of FIH-1 gene may lead to a constitutive activation of HIF-1 activity, an alteration of HIF-1 targets such as GLUT-1 and VEGF-A, and may contribute to the survival of cancer cells in hypoxia and the development of hypervascularization observed in GBM.

VEGF-A

hypoxia


Input: This study examines NT secretion, NT receptor and NT-growth responses in androgen-independent prostatic carcinoma (PC3) cells derived from prostate adenocarcinoma metastatic to bone.

prostate adenocarcinoma


Input: An analysis of the expression of the 6 target genes in primary medulloblastoma tumor samples and cell lines revealed overexpression of LYK5 and PIK3CG.

medulloblastoma

medulloblastoma


Input: The aim of this study was to determine (i) whether chemical blockade of stress-induced increase of colonic paracellular permeability by 2, 4, 6 triaminopyrimidine (TAP) affects the concomitant hypersensitivity to colonic distension, (ii) the role of epithelial cell contraction in the stress-induced increased permeability and hyperalgesia, using a myosin light chain kinase inhibitor (ML-7).

myosin light chain kinase

hypersensitivity

myosin light chain kinase

hypersensitivity


Input: Remarkably, the leukaemia at relapse was identified as a precursor-B-cell acute lymphoblastic leukaemia (B-ALL) by cytology and immunophenotyping, but was inv (16) (p13q22) positive as revealed by interphase FISH, FICTION analysis, and real-time quantitative PCR.

FISH

leukaemia


Input: Furthermore, longitudinal audiologic assessment and precise vestibular testing are necessary for a better understanding of the mechanisms of hearing loss and vestibular dysfunction caused by GRXCR1 mutations.

vestibular dysfunction


Input: We next studied the association of HLA-B67 and-B52 with clinical characteristics: age at disease onset, distribution of arteritis, pulmonary involvement, aortic regurgitation, systemic hypertension, steroid resistance and recurrence rate in TA.

arteritis


Input: T3 isomers (2 micromol/L) inhibited hypoxia-induced VEGF secretion from DLD-1, with delta-T3 showing potent inhibition.

VEGF

hypoxia


Input: CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.

melanoma

melanoma


Input: In multivariate regression analysis, insulin resistance was significantly associated with LVMI in healthy relatives (P < 0. 01) and patients with PKD1 (P < 0. 05) independent of age, weight, systolic blood pressure, and albuminuria.

insulin resistance


Input: Cross-sectional studies disclosed a marked increase of miR-140-5p, miR-142-3p, and miR-222 and decreased miR-423-5p, miR-125b, miR-192, miR-195, miR-130b, miR-532-5p, and miR-126 in T2D patients.


Input: Further, the functional catechol-O-methyltransferase (COMT) Val158Met polymorphism interacted significantly with total CTQ abuse scores to impact perceived dissociation.

COMT

dissociation


Input: The more seriously affected patient had shorter height (125 cm), atlantoaxial instability associated with os odontoideum, flat feet, and cleft palate, absence of the femoral head on radiographic and magnetic resonance imaging (MRI), and dislocated proximal femur.

MRI

height


Input: Microarray analysis of vascular smooth muscle cells from WT and Id3 (-/-) mice revealed significant modulation of multiple gene pathways implicated in atherogenesis.

atherogenesis


Input: In conclusion, we found that several vascular risk factors and MRI-correlates of cerebrovascular disease were related to MCI in the general population.

MRI

cerebrovascular disease


Input: We investigated the effect of two polymorphisms in the beta2-AR gene: Gly16Arg and Gln27Glu for the risk of sporadic Late Onset Alzheimer' s Disease (LOAD) in 109 patients and 109 healthy controls matched for sex and age in a Han Chinese population.

AR gene

sporadic


Input: WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

Senior-Loken syndrome

Senior-Loken syndrome


Input: Knockdown of Mp1 in invasive GCT cells resulted in resistance to differentiation, thereby showing a functional role for Mp1 both in normal differentiation of ES cells and in germ cell cancer.

germ cell cancer


Input: Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD.

PCD

PCD


Input: The only case of SDC with anaplastic transformation showed PIK3CA p. H1047R mutation, whereas 1 of 2 PIK3CA p. E542K mutations was identified in SDC arising in a pleomorphic adenoma.

SDC

pleomorphic adenoma


Input: The common aetiology for Dent' s disease, XRN and XLRH indicates that CLCN5 may be involved in other renal tubular disorders associated with kidney stones.

XRN

XRN


Input: We tested gene-environment interactions in 7610 women who developed breast cancer and 10 196 controls without the disease, studying the effects of 12 polymorphisms (FGFR2-rs2981582, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, 2p-rs4666451, 5p12-rs981782, CASP8-rs1045485, LSP1-rs3817198, 5q-rs30099, TGFB1-rs1982073, and ATM-rs1800054) in relation to prospectively collected information about ten established environmental risk factors (age at menarche, parity, age at first birth, breastfeeding, menopausal status, age at menopause, use of hormone replacement therapy, body-mass index, height, and alcohol consumption).

ATM

alcohol consumption


Input: In 127 COPD patients (mean FEV1 61%), pulmonary function, Fe (NO), plasma CRP and TNF-alpha, sputum differential cell counts and sputum IL8 (pg/ml) were measured.

CRP

pulmonary function


Input: In this study, we performed chromogenic in situ hybridization (CISH) and immunohistochemistry to evaluate for NF2 gene deletion in a group of sporadic meningiomas, schwannomas, and ependymomas.

CISH

schwannomas


Input: NPL regression provided modest evidence of linkage to 13q33. 3 near D13S796 [log of the odds (LOD) = 1. 72], 9q34. 3 near D9S1826 (LOD = 1. 22), 4p15. 32 near D4S2639 (LOD = 1. 11) and 1q25. 1 near D1S1589 (LOD = 1. 01).

NPL

regression


Input: NLK expression was analyzed in 121 NSCLCs and 92 normal lung tissue samples from benign pulmonary disease.

NLK

pulmonary disease


Input: Here, we report a 7-month-old girl, newly diagnosed with infantile HPP, who presented as a neonate with PRS but without bony abnormalities.

HPP

abnormalities


Input: Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation.

FASLG

autoimmune lymphoproliferative syndrome

FASLG

autoimmune lymphoproliferative syndrome


Input: Furthermore, in the SG, the number of circulating Lin (-)/CD45 (-)/CD34 (+) VSELs and the S1P plasma level are the best predictors of risk and are proposed as novel markers for the first " schizophrenic " episode of psychosis.

psychosis

psychosis


Input: Regulation of Skp2-p27 axis by the Cdh1/anaphase-promoting complex pathway in colorectal tumorigenesis.

tumorigenesis


Input: When analyzed with a Cox regression model, the PSF3 expression was an independent prognostic factor for overall survival.

regression


Input: The pathological fibrillar deposits found in the heart and other organs of patients with senile systemic amyloidosis (SSA) and Swedish familial amyloidotic polyneuropathy (FAP) contain wild-type (wt) and a mutant form of transthyretin (TTR), respectively.

SSA

polyneuropathy


Input: Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene.

glucocorticoid receptor

Generalized glucocorticoid resistance

glucocorticoid receptor

Generalized glucocorticoid resistance


Input: Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.

neurological manifestations


Input: We conducted a case-control study to investigate (1) the association of aryl hydrocarbon receptor (AHR) genetic variants and phase I metabolic enzymes with the risk of NTDs and (2) the interaction of these variants with maternal exposure to indoor air pollution from smoking and coal combustion or with placental polycyclic aromatic hydrocarbons (PAHs).

AHR

smoking


Input: Osteonectin was isolated from conditioned media of several cell lines including breast cancer (MDA-MB-435, MDA-MB-468), osteoblasts (hFOB1. 19), non-neoplastic breast epithelial (hTERT-HME1), and vascular endothelial cells isolated from a bone biopsy (HBME-1).

Osteonectin

non-neoplastic


Input: The authors explored the influence of genetic polymorphisms at interleukin-1beta (IL-1B) and interleukin-1 receptor antagonist (IL-1RN) genes on these abnormalities.

abnormalities


Input: Based on anti-HCV seropositivity by RIBA-2 in acute hepatitis and/or during follow-up, a total of 22/45 patients with HNANB (48. 8%) were considered to have confirmed HCV infection.

RIBA

acute hepatitis


Input: Recently, recessive mutations of the ZFP57 gene were reported in patients with transient neonatal diabetes mellitus type 1, showing hypomethylation at multiple imprinted loci, including KCNQ1OT1 DMR in some.

DMR

transient neonatal diabetes mellitus


Input: T-bet expression in intratumoral lymphoid structures after neoadjuvant trastuzumab plus docetaxel for HER2-overexpressing breast carcinoma predicts survival.

T-bet

breast carcinoma


Input: GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.

GCMB

familial isolated hypoparathyroidism

GCMB

familial isolated hypoparathyroidism


Input: Administration of warfarin inhibited mesangial and glomerular hypertrophy and the increase in GFR and albuminuria in STZ rats.

STZ

albuminuria


Input: Our findings now expand the phenotypes related to TPP1-variants to SCAR7.


Input: The present study was designed to examine the changes of MMP-2/TIMP-2 in the hearts of streptozotocin-induced diabetic rats and gain insight into their roles in extracellular matrix (ECM) remodelling on an experimental animal model of diabetic cardiomyopathy.

ECM

diabetic cardiomyopathy


Input: Concentrations of soluble CD40 were comparable in patients with mild organ damage that included left ventricular hypertrophy, retinal damage, renal dysfunction and proteinuria.

proteinuria


Input: Activation of the aryl hydrocarbon receptor (AhR) protects adult and newborn mice against hyperoxic lung injury by mediating increases in the expression of phase I (cytochrome P450 (CYP) 1A) and phase II (NADP (H) quinone oxidoreductase (NQO1)) antioxidant enzymes (AOE).

aryl hydrocarbon receptor

lung injury

aryl hydrocarbon receptor

lung injury


Input: Doxorubicin-based therapy is not effective for the treatment of hepatocellular carcinomas (HCCs), which often undergo epithelial-mesenchymal transition (EMT) during tumor progression.

EMT

tumor progression


Input: Vascular endothelial growth factor A, secreted in response to transforming growth factor-β1 under hypoxic conditions, induces autocrine effects on migration of prostate cancer cells.

Vascular endothelial growth factor A

hypoxic


Input: Androgen receptor CAG repeat length polymorphism modifies the impact of testosterone on insulin sensitivity in men.

Androgen receptor

insulin sensitivity

Androgen receptor

insulin sensitivity


Input: Toll-like receptor 4 polymorphisms and atherogenesis.

Toll-like receptor 4

atherogenesis

Toll-like receptor 4

atherogenesis


Input: Improvements in the analytic sensitivity of HBsAg prototype assays allow the detection of additional HBV DNA-positive samples from donors with window period or occult infections compared to PRISM HBsAg.

PRISM

infections


Input: Multivariate survival analysis revealed that SPARCL1 was an independent prognostic factor in gastric adenocarcinoma patients with no metastasis and well/moderately differentiated.

gastric adenocarcinoma


Input: CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.

Cockayne syndrome type A

Cockayne syndrome type A


Input: New studies have indicated that biallelic mutations lead to a distinctive syndrome, childhood cancer syndrome (CCS), with haematological malignancies and tumours of brain and bowel early in childhood, often associated with signs of neurofibromatosis type 1.

CCS

neurofibromatosis type 1


Input: A second polymorphism study, conducted on histamine-related genes, did not find any significant associations with aspirin-induced urticaria/angioedema for the genes HNMT (encoding histamine N-methyltransferase), HRH1 or HRH2 (encoding histamine receptor types 1 and 2 respectively), or the gene encoding high-affinity IgE receptor Ibeta (FcepsilonRIbeta); however, the FcepsilonRIalpha gene promoter polymorphism was significantly associated with aspirin-induced urticaria/angioedema.

angioedema


Input: TNF-1 (+/+) and TNF-2 (+/-and-/-) groups of subjects were comparable in sex, age, BMI, waist-to-hip ratio, and several skinfold measurements.

TNF

waist-to-hip ratio


Input: Topotecan-inhibitory effects on VEGF induction by hypoxia were mediated through suppression of both HIF-1alpha and HIF-2alpha protein accumulation and transactivation properties, which was specific and required ongoing RNA transcription.

VEGF

hypoxia


Input: Here, we enrolled 364 cases of AML to assess the effect of TDT on OS by fractional polynomial regression in the context of clinical parameters and genes of FLT3ITD, NPM1, CEBPA, DNMT3a, and IDH1/2 mutations.

CEBPA

regression


Input: Our findings indicate an association between xerosis and asthma in men independent of atopic dermatitis and FLG mutations.

FLG

xerosis


Input: Thus, spondyloperipheral dysplasia and PLSD-T constitute a novel subfamily within the type II collagenopathies, associated with specific mutations in the C-propeptide domain and characterized by distinctive radiological features including metaphyseal changes and brachydactyly that set them apart from other type 2 collagenopathies associated with mutations in the triple-helical domain of COL2A1.

PLSD-T

PLSD-T


Input: Thus, SAMP1/Yit mice display gastritis as well as ileitis, and B cells appear to play a role in the pathogenesis of inflammation at both sites.

gastritis


Input: We examined tumors of 104 unrelated clinically characterized colorectal cancer patients for causal mismatch repair (MMR) deficiency by several methods: microsatellite instability (MSI) and loss of heterozygosity (LOH) presence, MMR protein absence, hypermethylation of MLH1 promoter and germline mutation presence.

MMR

microsatellite instability


Input: These results suggest that in hypoxic HCC cells, netrin-1 activates downstream signaling pathways to induce EMT activation with subsequent production of multiple inflammatory mediators which in turn promotes cancer invasion.

hypoxic


Input: If not metabolized by 11beta-HSD1, activation of NNK by cytochrome p450 mono-oxidase 2D6 (CYP2D6) results in an electrophile intermediate responsible for DNA damage.

mono


Input: A molecular marker, human alpha-1-antitrypsin (hAAT) was transduced into tumor cells and its secretion was found to correlate with tumor growth or regression, allowing for an accurate and continuous measurement of tumor growth kinetics.

regression


Input: Our data indicate that H. pylori GGT might be involved in the development of cancer in hepatobiliary cells by altering cell kinetics and promoting inflammation.

GGT

inflammation


Input: We hypothesized that the fragile X-associated tremor/ataxia syndrome-affected participants with poor declarative verbal memory would have pronounced abnormalities in the P600 repetition effect.

abnormalities


Input: PAP was overexpressed in 79% (30 of 38) of pancreatic ductal adenocarcinoma, 19% (7 of 36) of chronic pancreatitis, and 29% (2 of 7) of mucinous cystadenoma.

PAP

chronic pancreatitis


Input: As a result, we found that DMH-treated animals were having over-expression of various pro-inflammatory cytokines (IL-1β, IL-2, and IFNγ), aberrant nuclear localization of activated cell survival transcription factors (NF-κB and Stat3) along with the increased incidence of activated angiogenic factors (MMP-2 and MMP-9) suggesting a marked role of inflammation in the tumor progression.

DMH

inflammation


Input: Moreover, when the Smad4 gene is ablated in combination with its DNA binding cofactor Foxl2 in gonadotrope cells, mice make essentially no FSH and females are sterile.

Smad4 gene

sterile


Input: The baseline mean levels of serum high-sensitivity C-reactive protein (hs-CRP), tumor necrosis factor-α (TNFα), plasma fibrinogen, urine 8-iso-prostaglandin F₂α (8-iso-PGF₂α), PON1 activity, flow-mediated dilation (FMD) and intima-media thickness (IMT) value did not significantly correlated with smoking habit in the patients and controls group.

dilation


Input: In addition, extracellular regular protein kinase (ERK1/2) expression was downregulated and the adhesion ability to fibronectin was increased in 95D cells treated with the fusion protein, which was confirmed by cell adhesion assay.

adhesion


Input: This report describes a man who has multiple adenomatous colon polyps, a gastric cancer, multiple colorectal cancers and sebaceous adenomas caused by biallelic MYH germline mutations.

MYH

sebaceous adenomas


Input: Thus, we suggest that although c-Myc is clearly important for the normal transcriptional control of the cad promoter, it is unlikely that increased levels of CAD are important mediators of c-Myc-induced neoplasia.

c-Myc

cad


Input: Our data provide new insight into the role of IL32 in HNSCC aggressiveness.

aggressiveness


Input: We analyzed the frequency of allelic deletions and mutations of the recently identified MEN1 gene in 53 sporadic tumors including 30 EPT and 23 NET (carcinoids) of different locations and types.

NET

sporadic


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

Maffucci syndrome

Maffucci syndrome


Input: On the other hand, BCL2/adenovirus E1B 19-kDa interacting protein 3 (BNIP3) is overexpressed in various tumors, including prostate cancer, and may transcriptionally repress the apoptosis-inducing factor (AIF) gene.

adenovirus


Input: When expression of RUNX3 was recovered using epigenetic reagents the expressions of HIF-1α and VEGF were clearly suppressed under hypoxic conditions.

VEGF

hypoxic


Input: However, CDX2 expression levels were strongly associated with microsatellite instability and tumor location in the gastrointestinal tract, consistent with a possible role in the specification of gastrointestinal epithelial cell fate in humans.

microsatellite instability


Input: The role that CLU plays in tumorigenesis is still unclear.

CLU

tumorigenesis


Input: Administration of GSPE to the MIA-treated rats significantly increased the PWL and PWT and this resulted in recovery of hind paw weight distribution (P < 0. 05).

MIA

weight


Input: To determine the incidence of doublecortin mutations in DC, we investigated a cohort of eight pedigrees and 47 sporadic patients with DC for mutations in the doublecortin open reading frame as assessed by single-stranded conformational polymorphism analysis.

doublecortin

sporadic


Input: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myopathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dystrophy 2J (LGMD2J).

MIM

distal myopathy


Input: Previous studies have demonstrated that miR-122 plays a role in inflammation in the liver and functions in hepatic stellate cells (HSCs), which reside in the space of Disse.

inflammation


Input: The noncompetitive antagonist mecamylamine does not suppress the DAC, although it suppresses high-dose nicotine-induced wild-type-like seizures.

DAC

seizures


Input: Expression of an activated mammalian target of rapamycin in adenocarcinoma of the cervix: A potential biomarker and molecular target therapy.

mammalian target of rapamycin

adenocarcinoma

mammalian target of rapamycin

adenocarcinoma


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

TXN

spondylitis


Input: The change in the levels of epidermal growth factor receptor mRNA in post-compared with pretreatment specimens was significantly associated with the histopathologic grade of regression (p = 0. 01).

epidermal growth factor receptor

regression


Input: This is the first report, to our knowle dge, that identifies SDHA inactivation as a common oncogenic event in GISTs that lack a mutation in KIT and PDGFRA.

SDHA

GIST

SDHA

GIST


Input: In the adolescent sample, FTO (rs1121980) was associated with change to overweight at adulthood in the combined male-female sample (OR: 1. 27, 95% CI: 1. 09-1. 49, P = 3. 0x10 (-3), adj.

FTO

overweight


Input: In this study, we first analyzed the expression and regulation of TM9SF4 in normal and leukemic cells and identified TM9SF4 as a gene highly expressed in human quiescent CD34 + hematopoietic progenitor cells (HPCs), regulated during monocytic and granulocytic differentiation of HPCs, both lineages giving rise to mature myeloid cells involved in adhesion, phagocytosis and immunity.

adhesion


Input: IKBB is silenced in the majority of NPC tumor tissues in all stages.

IKBB

tumor


Input: X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.

MASA syndrome

MASA syndrome


Input: The robust upregulation of Klk6 and Klk8 in the brain during the acute phase of viral encephalitis and in the spinal cord during disease development and progression points to their participation in inflammation, demyelination, and progressive axon degeneration.

demyelination


Input: In Saudi Arabia, the epidemiology and clinical significance of Torque Teno virus (TTV) infection alone and in patients with hepatitis virus infections have not been determined in a single study.

TTV

virus infections


Input: These results suggest that miR-10b may play an important role in NF1 tumorigenesis through targeting neurofibromin and RAS signaling.

neurofibromin

tumorigenesis


Input: Recently, inheritable skeletal dysplasia caused by novel COL2A1 mutations has been linked to an inherited disease of the hip joint that neither involves the entire skeletal system nor is characterized by the presence of concomitant disorders, such as spinal or ocular abnormalities.

abnormalities


Input: Children with lobar pneumonia with or without effusion showed significantly higher levels of serum VEGF than children with bronchopneumonia.

VEGF

lobar pneumonia


Input: The treatment was rapidly effective paralleled by the immediate fall of the C-reactive protein and serum amyloid A protein.

C-reactive protein

fall


Input: The independent prognostic value of baseline FDG uptake was demonstrated in multivariate analysis (p = 0. 05, Cox regression).

FDG

regression


Input: Gene silencing of HIF-1alpha prevented G6PT and VEGF induction in hypoxic MSCs whereas generation of cells stably expressing HIF-1alpha resulted in increased endogenous G6PT gene expression.

VEGF

hypoxic


Input: In selected individuals, cell surface HLA-DR peripheral B-cell expression was correlated with HLA-DRB1 genotype and atopic status.

atopic


Input: Finally, we show that interference with the HH-GLI pathway through lentiviral-mediated silencing of SMO and GLI1 drastically diminishes tumor initiation of ALDH (high) melanoma stem cells.

SMO

tumor initiation


Input: We have identified recessive mutations in ANO5 that result in a proximal limb-girdle muscular dystrophy (LGMD2L) in three French Canadian families and in a distal non-dysferlin Miyoshi myopathy (MMD3) in Dutch and Finnish families.


Input: The utility of PCI for the delivery of the GFP reporter gene on the same plasmid as a tumor suppressor gene (PTEN) was investigated in monolayers of U251 human glioma cells and muticell U87 glioma spheroids.

glioma


Input: In contrast, almost all cases of diffuse large B-cell lymphoma and most cases of anaplastic large cell lymphoma, neoplasms that may be confused with Hodgkin' s lymphoma, are negative for T-bet.

T-bet

large cell lymphoma


Input: This indicates that neomutations into the RyR1 gene are not a rare event and must be taken into account for genetic studies of families that present with congenital myopathies type' central core disease'.

central core disease

central core disease


Input: In 12 of 13 patients and all 9 polyps from Min mice, the MAT2A messenger RNA levels were 200%-340% of levels in adjacent normal tissues, respectively.

polyps


Input: Cyclin A1 plays a critical role in hematopoietic malignancies, notably, acute myeloid leukemia.

Cyclin A1

hematopoietic malignancies


Input: Delayed diagnosis of transthyretin amyloidosis with a novel mutation (c. 210T & gt; A) in the transthyretin gene.

transthyretin

transthyretin amyloidosis

transthyretin

transthyretin amyloidosis


Input: Aberrant methylation of Reprimo with loss of expression is a common event and may contribute to the pathogenesis of some types of human malignancy.

Reprimo

malignancy


Input: Nonketotic hyperglycinemia (NKH) is an autosomal recessive metabolic disorder caused by the defects in the glycine cleavage system (GCS; EC 2. 1. 2. 10), a multienzyme system that consists of four individual components.

Nonketotic hyperglycinemia

NKH

Nonketotic hyperglycinemia

NKH


Input: However, CD10-MUM1 + FLs were encountered frequently in the elderly compared with CD10 + MUM1-typical FLs (67. 0 versus 58. 7 years, P <. 01), showed high grade (grade 3A or 3B) morphology (91% versus 17%, P <. 001), diffuse proliferation (59% vs 19%, P <. 001), and lacked BCL2/IGH translocation (5% versus 92. 5%, P <. 001), which is the most characteristic aberration in FL, and 88% showed BCL6 gene abnormalities (translocation or amplification).

translocation


Input: Hemophilia A is an X-linked bleeding disease caused by mutations in the coagulation factor VIII gene.

coagulation factor VIII

Hemophilia A

coagulation factor VIII

Hemophilia A


Input: CFTD is the fourth clinicopathological presentation that can be associated with mutations in SEPN1.

CFTD

CFTD


Input: Centrally administered NPY causes robust increases in food intake and body weight and, with chronic administration, can eventually produce obesity.

NPY

body weight


Input: Hypervascularization is induced by overexpression of vascular endothelial growth factor (VEGF), and because the principal function of VHL protein is the negative regulation of hypoxia-inducible mRNAs including VEGF mRNA, inactivation of VHL gene plays critical roles in angiogenesis of the VHL tumors.

VEGF

hypoxia


Input: When comparing 1p-deleted tumors of all stages to tumors with an intact 1p, a significant difference at gene-by-gene level in TNFRSF9, RERE, PIK3CD, CLSTN1, CTNNBIP1, and CASZ1 was detected.

tumors


Input: This work will greatly improve K16 mutation analysis and allow predictive testing for PC-1 and the related phenotype of FNEPPK.

FNEPPK

FNEPPK


Input: Patients with thrombocytopenia 5 have an autosomal dominant disorder of decreased platelet number with tendency to bleed, usually presenting in childhood, and have been found to have germline mutations in ETV6, which encodes a master hematopoietic transcription factor.

thrombocytopenia 5

thrombocytopenia 5


Input: BRAF V600E mutation was analyzed in CRC patients with MMR deficiencies (microsatellite instability and/or lack of MLH1/MSH2 protein expression) in the EPICOLON population-based study.

MMR

microsatellite instability


Input: 4-HNE immunoreactivity was assessed semi-quantitatively in the temporal lobe of a group of controls (n = 44) and in a group of patients who had an episode of global ischemia as a result of a cardiorespiratory arrest and subsequently died (n = 56, survival ranged from 1hr to 42 days).

HNE

cardiorespiratory arrest


Input: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy characterized by CD4 and CD56 coexpression without apparent lineage commitment.

hematologic malignancy


Input: Furthermore, the number of HLA-G-positive mast cells was significantly associated with fibrosis progression.

HLA-G

fibrosis


Input: We did not detect any association between the RFC-1 c. 80A--> G polymorphism and placental abruption, nor was an association between plasma folate and abruption risk evident.

RFC

placental abruption


Input: Our results indicate that mutations in FUS/TLS are not a major cause of sporadic ALS in the German population.

TLS

sporadic


Input: Regional myocardial function, assessed by subendocardial segment shortening in the infarct region, was increased in Hsp90-transfected animals at baseline and after pacing.

infarct


Input: In the present study, we analyzed the AR gene in 8 patients, 4 sporadic and 2 familial cases with the syndrome, using exon-specific polymerase chain reaction, single-stranded conformational polymorphism and sequencing analysis and identified six new single base mutations, including one nonsense mutation at the hinge region of the receptor.

AR gene

sporadic


Input: Taken together, these data demonstrate a selective and robust reduction in anxiety-and depression-related behavior in NMDA receptor NR2A subunit KO mice.

depression

depression


Input: Despite the small number of examined patients and the need for replication studies, these findings support the hypothesis that diagnostic screening for LGI1 microrearrangements lacks clinical utility, especially for sporadic cases, and further highlight genetic heterogeneity of familial and sporadic PEAF.

sporadic


Input: We analyzed Melanocortin 2 receptor (MC2R), Androgen Receptor (AR), Leptin (LEP), and Steroidogenic factor 1 (SF1) expression using real-time qRT-PCR in two giant bilateral adrenal myelolipomas from two untreated simple virilizing CAH cases and in two sporadic adrenal myelolipomas.

giant


Input: BPA upregulated clusterin expression in atrophic prostate epithelial cells and induced lipid peroxidation and DNA fragmentation in spermatozoa.

clusterin

atrophic

clusterin

atrophic


Input: Because leukotriene B (4) (LTB (4)), a 5-lipoxygenase metabolite of arachidonic acid in neutrophils, is a chemoattractant and enhances neutrophil adhesion to endothelium, we assessed plasma levels of this metabolite in controls (n = 9) and individuals with SCD, SS genotype, both in basal " steady state " (n = 37) and during episodes of vaso-occlusion (n = 10) and acute chest syndrome (n = 5).

LTB

adhesion


Input: DNA aneuploidy is observed in various human tumors and is associated with the abnormal expression of spindle assembly checkpoint (SAC) proteins.

SAC

aneuploidy


Input: The rho-associated coiled-coil protein kinase 2 (ROCK2) gene has been suggested to associate with general hypertension and is therefore a plausible functional candidate gene for pre-eclampsia.

pre-eclampsia


Input: Down-regulation of TREM2 in two glioma cell lines, U87 and U373, resulted in a significant reduction in cell proliferation, migration and invasion and a dramatic increase in S phase arrest and apoptosis.

glioma


Input: Intermittent administration of parathyroid hormone (PTH) dramatically increases bone mass and currently is one of the most effective treatments for osteoporosis.

PTH

bone mass


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

N-myc

cirrhosis


Input: Previously detected associations between single-nucleotide polymorphisms at the TAP2 locus and sarcoidosis were shown to be due to linkage disequilibrium with the HLA-DR locus.

sarcoidosis


Input: We conclude that NRF2 is required to adapt the levels of SNAT3 in response to metabolic acidosis.

metabolic acidosis

metabolic acidosis


Input: Deletions encompassing the BP1-2 region at 15q11. 2 increase schizophrenia and epilepsy risk, but only some carriers have either disorder.

epilepsy


Input: Human glioblastoma cell lines U118 and U138 also showed hypoxia-induction of AMPKalpha2 as well as VEGF.

VEGF

hypoxia


Input: Chromosomal translocation resulting in abnormal expression of the LAZ3/BCL6 gene in B cells has been implicated in the tumorigenesis of non-Hodgkin lymphoma (NHL).

BCL6 gene

tumorigenesis


Input: Extracellular translocation of the polysaccharide, hyaluronan (HA) has been thought to be mediated via its transmembrane synthetic enzyme, hyaluronan synthase (HAS) but recent studies have indicated that the ATP-Binding-Cassette (ABC) transporter, MRP5 contributes to this process.

translocation


Input: Together, our results suggest that polymorphisms or haplotypes of the EGFR play an important role in the development of lung cancer in Taiwan, particularly in never-smoking female lung adenocarcinoma.

EGFR

smoking


Input: These results suggest that C771G polymorphism of MLXIPL gene is associated with stenosis and its severity.

MLXIPL gene

stenosis


Input: We provide an overview of what is known about TDP-43 in AD, normal aging and in other disorders and suggest that TDP-43 proteinopathies be considered in two classes-primary and secondary.

aging


Input: Collectively, our results suggest that SREBP-2 plays a critical role in regulating osteoclastogenesis and contributes to breast cancer-induced osteolysis.

breast cancer

breast cancer


Input: To investigate the correlations between polymorphisms of human leukocyte antigen (HLA)-A, HLA-B and HLA-DRB1 alleles and childhood susceptibility to aplastic anemia (AA), 80 children with AA were investigated.

anemia


Input: We have analysed p63 in AEC syndrome patients and identified missense mutations in eight families.

AEC syndrome

AEC syndrome


Input: Hypoxia (1% O (2)) or treatment with hypoxia-mimicking CoCl (2) enhanced RSUME and HIF-1α expression, induced translocation of HIF-1α to the nuclei and stimulated VEGF-A production both in pituitary tumour cell lines and primary human pituitary adenoma cell cultures.

translocation


Input: Data were compared to results obtained by FISH and were consistent in 10 of 13 (77%) tumors with deletion 1p, 18 of 20 (90%) with deletion 11q, 12 of 12 (100%) with MYCN amplification, and 146 of 151 (97%) samples without any aberration.

FISH

deletion 1p


Input: We also undertook FLCN analysis to evaluate whether unrecognized BHD syndrome might be present in 69 patients with apparent nonsyndromic RCC susceptibility.

FLCN

RCC

FLCN

RCC


Input: Hepatocyte growth factor attenuated the increase in the expression of AIF protein in the nucleus after transient forebrain ischemia.

Hepatocyte growth factor

ischemia


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

ARP

parkinsonism


Input: Cigarette smoking condensate (but not pure nicotine) stimulated specific serine phosphorylation-dependent ubiquitination and degradation of the IFNAR1 subunit of the Type I IFN receptor leading to attenuation of IFN signaling and decreased resistance to viral infection.

viral infection

viral infection


Input: Expression and mutation analyses of Fas, FLIP and Bcl-2 in granulosa cell tumor of ovary.

FLIP

granulosa cell tumor of ovary


Input: The CTNNB1-mutated HCC cell line HepG2 is sensitive to glutamine starvation induced in vitro with the antileukemic drug Crisantaspase and the GS inhibitor methionine-L-sulfoximine (MSO).

HCC

starvation


Input: Our results reveal that XBP1s reduces hepatic lipogenic gene expression and improves hepatosteatosis in mouse models of obesity and insulin resistance, which leads us to conclude that XBP1s has anti-lipogenic properties in the liver.

insulin resistance

insulin resistance


Input: Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson' s disease.

Wilson' s disease

Wilson' s disease


Input: The expression of DNMT1 protein and mRNA and levels of serum folate were detected in 238 women with a diagnosis of normal cervix (NC ， n = 53), cervical intraepithelial neoplasia (CIN I, n = 52; CIN II/III, n = 53), and squamous cell carcinoma of the cervix (SCC; n = 80).

cervical intraepithelial neoplasia


Input: Thus, the Notch/miR-155/κB-Ras1/NF-κB axis regulates the inflammatory state of the BM niche and affects the development of myeloproliferative disorders.

NF-κB

myeloproliferative disorders


Input: APOE ε4 worsens hippocampal CA1 apical neuropil atrophy and episodic memory.

atrophy


Input: We documented the clinical features and outcome of 48 patients with IRAK-4 deficiency and 12 patients with MyD88 deficiency, from 37 kindreds in 15 countries. The clinical features of IRAK-4 and MyD88 deficiency were indistinguishable.

IRAK-4 deficiency

IRAK-4 deficiency


Input: Apaf-1 was found to interact with cytochrome c within the injured hippocampus 0-24 h following seizures by co-immunoprecipitation analysis and immunohistochemistry demonstrated Apaf-1/cytochrome c co-localization.

cytochrome c

seizures


Input: It is noteworthy that in human U87-MG glioma cells and human primary culture glioma cells, miR-335 also mediated cholera toxin-induced differentiation.

glioma


Input: Here we show that deregulation of the homeobox transcription factor gene DUX4 and the ETS transcription factor gene ERG is a hallmark of a subtype of B-progenitor ALL that comprises up to 7% of B-ALL.

ALL

ALL


Input: Among the alleles potentially associated with type 2 diabetes, none negatively influenced surrogate markers of insulin sensitivity in non-diabetic participants, while the minor alleles of UQCRC1 rs2228561 and COX10 rs10521253 showed a weak (p < 0. 01 to p < 0. 05) negative influence on indices of glucose-stimulated insulin secretion.

insulin sensitivity


Input: In addition, Western blots showed that antibody against ERV9 pol protein in serum from the HERV + schizophrenia patients, but not from control (p & lt; 0. 01).

pol

schizophrenia

pol

schizophrenia


Input: We further show that Ras-dependent lung tumorigenesis is associated with increased phosphorylation on Ser10 and cytoplasmic mislocalization of p27.

tumorigenesis


Input: Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.

dominant optic atrophy

dominant optic atrophy


Input: To identify associations between semiautomatically extracted MRI features and breast cancer molecular subtypes.

MRI

breast cancer


Input: Our results suggest that 17 SNPs within GRIA1, GRIA2 and GRIA4 may not be associated with the development and treatment outcomes in BD.

BD

BD


Input: Whereas the pathophysiology of muscular dystrophy and the core myopathies involves abnormal mitochondrial Ca (2 +) handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial Ca (2 +) signaling, demonstrating the crucial role of mitochondrial Ca (2 +) uptake in humans.

myopathies

myopathies


Input: Mixed cryoglobulinemia, purpura, arthritis, proteinuria, decreased complement levels, rheumatoid factor and anti-GOR, smooth muscle antibody (SMA), anti-nuclear antibody (ANA), and liver, kidney microsome (LKM) autoantibodies were significantly more represented in HCV positive patients than in negative ones (P <. 05).

ANA

purpura


Input: In 3 newborns with CK > 2, 000U/l in whom DMD gene abnormalities were not found, we identified limb-girdle muscular dystrophy gene mutations affecting DYSF, SGCB, and FKRP.

SGCB

abnormalities


Input: In summary, our data demonstrate that ALDH1B1 may promote colon cancer tumorigenesis by modulating the Wnt/β-catenin, Notch and PI3K/Akt signaling pathways.

tumorigenesis


Input: Our analysis reveals that MMP10 is highly overexpressed in human lung tumors.

lung tumors

lung tumors


Input: Gene expression levels of APTX, BRCA1 and ERCC1 were significantly lower in irinotecan-sensitive gastric cancer samples than those irinotecan-resistant samples (P < 0. 001 for all genes), while ISG15 (P = 0. 047) and Topo1 (P = 0. 002) were significantly higher.

gastric cancer


Input: E-cadherin, total beta-catenin, and dephosphorylated beta-catenin protein expression in the mid-secretory endometrium of infertile patients with endometriosis or unexplained infertility was significantly higher compared to that of healthy fertile controls in both luminal and glandular epithelial cells.

E-cadherin

infertile


Input: In this article we describe genome-wide histone H3K9/K14 hyperacetylation and DNA methylation maps conferred by hyperglycemia in primary human vascular cells.

hyperglycemia


Input: To determine to what extent double inherited thrombophilias are associated with adverse obstetric complications correlated with fetoplacental insufficiency, such as preeclampsia, hemolytic anemia elevated liver enzymes and low platelet count (HELLP) syndrome, gestational hypertension, fetal growth restriction (FGR), intrauterine death (ID), abruptio placentae and disseminated intravascular coagulopathy.

FGR

hemolytic anemia


Input: MRI screening in an additional 10 PSD families without R355C showed no cerebral infarction.

PSD

cerebral infarction


Input: Ablation of matriptase from LEKTI-deficient mice dampened inflammation, eliminated aberrant protease activity, prevented detachment of the stratum corneum, and improved the barrier function of the epidermis.

LEKTI

inflammation


Input: Immunologic differences among the chronic B lymphoid leukemias defined by the French-American-British (FAB) classification were evaluated with respect to IgE isotype switching induced by anti-CD40 monoclonal antibody (mAb) and cytokines.

FAB

lymphoid leukemias


Input: Cell adhesion molecule 1: a novel risk factor for venous thrombosis.

Cell adhesion molecule 1

venous thrombosis


Input: We hypothesized that nitric oxide (NO) inhibition has synergistic effects with chronic hypoxia in altering maternal serum levels of soluble fms-like tyrosine kinase 1 (sFlt-1), vascular endothelial growth factor (VEGF), and placental growth factor (PlGF).

VEGF

hypoxia


Input: The autoimmune dermatologic disease pemphigus vulgaris (PV) is associated with the HLA serotypes DR4 and DRw6.

pemphigus vulgaris


Input: Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene.

phenylalanine hydroxylase

Phenylalanine hydroxylase deficiency

phenylalanine hydroxylase

Phenylalanine hydroxylase deficiency


Input: A common genetic variant in WFS1 specifically impairs GLP-1-induced insulin secretion independently of insulin sensitivity.

insulin sensitivity


Input: RGS6 is enriched in hippocampal and cortical neurons, 5-HT (1A) R-expressing cells implicated in mood disorders.

mood disorders

mood disorders


Input: Allele frequencies are calculated for each genotype of CYP1A1 * 2A and the differences for allele frequencies between the infertile and fertile men are determined using Fisher' s exact test.

infertile


Input: Our studies define the molecular composition of tip links and provide a conceptual base for exploring the mechanisms of sensory impairment associated with mutations in CDH23 and PCDH15.

sensory impairment


Input: This precise alteration has not been previously identified in the human androgen receptor gene in patients with the androgen insensitivity syndrome.

androgen receptor

androgen insensitivity syndrome

androgen receptor

androgen insensitivity syndrome


Input: Nasal fibroblasts produced high levels of VEGF, when cultured under hypoxic condition and this production was remarkably enhanced in the presence of TNF-alpha or endotoxin.

VEGF

hypoxic


Input: In addition, ENTPD6 expression in seminoma was higher than that in other testicular tumors.

seminoma

seminoma


Input: The translocation fuses the SYT gene from chromosome 18 to either of two highly homologous genes at Xp11, SSX1 or SSX2.

translocation


Input: The present experiments examined the role of spinal proinflammatory cytokines [interleukin-1beta (IL-1)] and chemokines (fractalkine) in acute analgesia and in the development of analgesic tolerance, thermal hyperalgesia, and tactile allodynia in response to chronic intrathecal morphine.

fractalkine

tactile allodynia


Input: A subset of juvenile-onset familial/sporadic ALS cases with FUS gene mutations reportedly demonstrates mental retardation or learning difficulty.

FUS gene

sporadic


Input: Deficit in beta-endorphin peptide and tendency to alcohol abuse.

beta-endorphin

alcohol abuse

beta-endorphin

alcohol abuse


Input: This study investigated the associations of functional polymorphisms of the NQO1, GSTM1, and GSTT1 genes of detoxification enzymes, with the seropositivity, as well as with pepsinogen levels, as markers of gastric atrophy.

gastric atrophy


Input: Firstly, we studied age, APOE-ε4 carriership, waist circumference, hypertension, diabetes mellitus, total and HDL-cholesterol levels, smoking, and stroke as potential determinants of MCI.

MCI

smoking


Input: These results suggest that p34 (SEI-1) affects cancer metastasis by regulating two different signaling pathways depending on the HER2/neu expression level, in which AKT and ILK modulation can be stimulated by p34 (SEI-1) overexpression.

metastasis


Input: Hypermethylation of the 5' CpG island of the gene encoding the serine protease Testisin promotes its loss in testicular tumorigenesis.

Testisin

tumorigenesis


Input: In multivariate analysis, AURKA was associated with cyclin D1 expression (P =. 010) and inversely with PIK3CA mutation (P =. 014), fatty acid synthase expression (P =. 028), and family history of colorectal cancer (P =. 050), but not with sex, age, body mass index, tumor location, stage, CIMP, MSI, KRAS, BRAF, BMI, LINE-1 hypomethylation, p53, p21, beta-catenin, or cyclooxygenase 2.

beta-catenin

body mass index


Input: Our data show that the presence of SNPs in IL12B, TNFA, and IL1B was significantly associated with asthma, atopy, and severity of asthma. We also highlight the importance of genetic context, haplotype, and gene-gene interaction analysis in genetic association studies.

TNFA

atopy


Input: Our findings demonstrated two new novel LRP5 mutations in Chinese patients with FEVR and mild reduced BMD.

mild


Input: Previous studies indicate that the regions, where the ACHE (7q22) and BCHE (3q26. 1-q26. 2) genes are localized, are suffering such structural modifications in breast cancer.

BCHE

breast cancer

BCHE

breast cancer


Input: Seven of these probes are induced in all cervical cancer stages: they are GINS1, PAK2, DTL, AURKA, PRKDC, NEK2 and CEP55.

cervical cancer


Input: These data suggest that a novel adhesive site within the cell binding domain of TSP promotes the adhesion of sickle RBCs to TSP.

TSP

adhesion


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

ovarian cancer

ovarian cancer


Input: Expression of MMP-26 was detected by immunohistochemistry in granulomatous skin diseases and actinic elastosis.

skin diseases

skin diseases


Input: Importantly, sporadic cases of CHD that share phenotypic aspects of NKX2. 5 mutation carriers were negative for genetic analysis.

NKX2. 5

sporadic


Input: For in vivo studies, 10 animals harboring SK-LMS-1 human leiomyosarcoma cells were randomly divided and treated twice on days 0 and 9 intraneoplastically with either 1 x 10 (7) plaque-forming units of d12. CALP/100 mm (3) of tumor volume or with medium alone.

leiomyosarcoma


Input: These data suggest that p63, particularly its splice variant DeltaNp73L, is involved in the neoplastic transformation of salivary glands.

neoplastic transformation


Input: This mode of administration induces cytochrome c release from mitochondria, a decrease in Bcl-2 in both mitochondria and endoplasmic reticulum, Bax translocation into mitochondria, activation of caspase-3, and DNA fragmentation.

translocation


Input: Fluorescence-activated cell sorting analysis using Annexin V and propidium iodide (PI) showed that LDP induced apoptotic cell death, whereas HDP predominantly caused necrotic cell death.

Annexin V

necrotic cell death


Input: The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.

pituitary hormone deficiency


Input: We therefore investigated gene expression of 25 inflammation-related miRNAs, 27 cytokines/chemokines/receptors, and a Th1-transcription factor T-bet in unseparated BAL cells obtained from 48 sarcoidosis patients and 14 control subjects using quantitative RT-PCR.

sarcoidosis


Input: These results suggest that in male mice GHRH deficiency brings about an increased physical activity and decreased anxiety-and depression-related behaviour, possibly related to increased TRH and decreased NE levels in the brain.

TRH

depression

TRH

depression


Input: Therefore in this study, we examined the genetic roles of FABP5 and 3 in schizophrenia (N = 1, 900 in combination with controls) and FABP7, 5, and 3 in bipolar disorder (N = 1, 762 in the case-control set).

schizophrenia

schizophrenia


Input: In dimethylnitrosamine (DMN)-induced fibrotic rat livers, adenovirus-mediated NDRG2 overexpression resulted in decreased ECM deposition and improved liver function compared with controls.

DMN

adenovirus


Input: In this study, we aimed to evaluate sensitivity and specificity of the Basophil Activation Test (BAT) as a diagnostic and monitoring test in patients with mastocytosis and WVA.

BAT

mastocytosis


Input: Significant reductions in CRP40 mRNA were found among first episode schizophrenia subjects and chronic schizophrenia subjects compared to healthy controls (p & lt; 0. 05 for both).

chronic schizophrenia

chronic schizophrenia


Input: Microarray studies in prostate DU145 cells identified the pro-cell death gene, BNIP3 (Bcl-2/adenovirus E1B 19 kDa interacting protein 3), as a novel putative target of SIM2s repression.

adenovirus


Input: Based on the current results, it seems that chronic inflammation in depressed patients correlates to the over expression of TRIF and MYD88 genes.

depressed

depressed


Input: The adenovirus E1A C-terminal region restrains oncogenic transformation through interaction with three distinct cellular protein complexes that include the DYRK1A/1B/HAN11 complex.

adenovirus


Input: Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

MonoMAC) syndrome

MonoMAC) syndrome


Input: Given the co-stimulatory role of natural-killer group 2, member D protein (NKG2D) on CD8 (+) T cells, we investigated its ability to rescue these immunologically impotent cells.

impotent


Input: Two unrelated individuals were positive for the 3849 + 10C-> T cystic fibrosis mutation; one carried the N370S Gaucher disease mutation, and one carried the connexin 26 167delT mutation.

cystic fibrosis


Input: An insertion/deletion (I/D) polymorphism of the angiotensin converting enzyme (ACE) gene significantly influences circulating ACE levels and plays a role in the development of target organ damage, that is, left ventricular hypertrophy in essential hypertension (EH), and microalbuminuria in diabetes mellitus.

ACE

microalbuminuria


Input: The chromosome region 21q22, where AML1 maps, is involved in several other karyotypic aberrations, such as the t (3; 21) translocation associated with a subset of therapy-related myelodysplastic syndromes and AML, and the blast phase of chronic myelogenous leukemia.

translocation


Input: Our results suggest that mutant alleles in RDH5 are a cause of fundus albipunctatus, a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments.

fundus albipunctatus

fundus albipunctatus


Input: Of 6 specimens with SSX2 translocation, none (0%) showed HER-2/neu immunoreactivity and 1 (17%) demonstrated EGFR expression.

translocation


Input: The multiply Cox regression suggested the overexpression and amplification of EGFR were negative prognostic factors for MB.

EGFR

regression


Input: To determine whether the 5-HTTLPR, STin2 VNTR, and rs25531 polymorphisms of SERT are associated with poststroke depression (PSD) in stroke survivors.

PSD

stroke


Input: This project sought a hypoxic stimulus to elicit increases in HSP72 and HSP32 in attempts to confer protection to the sub-maximal aerobic exercise-induced disturbances to redox balance.

hypoxic


Input: Associations between AD and/or depression to gene polymorphisms APO E (epsilon4), choline acetyltransferase (ChAT) 4G to A, serotonin-transporter gene promoter-length, dopamine-D4-receptor, ciliary-neurotrophic-factor-null mutation and brain-derived neurotrophic factor (C270T) and to various known factors were analyzed.

ciliary-neurotrophic-factor

depression

ciliary-neurotrophic-factor

depression


Input: To assess myocardial expression of SERCA and NCX protein levels in left ventricular (LV) remodelling due to chronic severe mitral regurgitation (MR).

NCX

mitral regurgitation


Input: Prevalence of CTCs was examined in samples from HCC patients, healthy volunteers, and patients with benign liver diseases or non-HCC cancers.

HCC

liver diseases


Input: In the present study, we evaluated for the first time the Her-2/neu status in the metaplasia-dysplasia-adenocarcinoma sequence of BCA simultaneously at the DNA, mRNA, and protein level using resection specimens of 25 patients.

BCA

metaplasia


Input: Several groups, however, have searched for FSHR mutations, although in most cases the gene has been studied partially, not finding any genetic abnormalities in German, English, North American or Brazilian women.

FSHR

abnormalities


Input: Evidence is accumulating that activation of the pancreatic endoplasmic reticulum kinase (PERK) in response to endoplasmic reticulum (ER) stress adapts tumor cells to the tumor microenvironment and enhances tumor angiogenesis by inducing vascular endothelial growth factor A (VEGF-A).

PERK

tumor angiogenesis


Input: The BRAF V600E mutation and 5 CpG island markers (MINT1, MINT2, MINT31, p16 and hMLH1) were assessed in 1154 cases of colon cancer.

colon cancer