Input: Four of 68 (6%) cases carried a translocation involving IGH and FOXP1 (n = 1), BCL2 (n = 1) or an unknown partner (n = 2).

translocation


Input: Soluble Tie2 fusion protein (sTie2-Fc), which precluded modulation of VEGF-dependent tube formation by the angiopoietins, suppressed both VEGF and hypoxia-conditioned, medium-induced tube-forming activity in BRECs.

VEGF

hypoxia


Input: The renal tissue from patients with MGN, MCD, focal segmental glomerulosclerosis, acute tubulointerstitial nephritis, diabetic nephropathy, immunoglobulin (Ig) A nephropathy, hypertensive nephrosclerosis, IgM nephropathy, amyloidosis and glomerulosclerosis were studied for the expression of cytokines (tumor necrosis factor, [TNF]-alpha, interleukin [IL]-1 beta, IL-2, IL-4, IL-8 and IL-10) by reverse transcriptase polymerase chain reaction.

acute tubulointerstitial nephritis


Input: The lower values of weight-for-age and height-for-age z scores, necessity for more intensive therapy, achievement of longer periods until remission, and frequent relapses in the patients bearing mutations in the IL10 receptor genes all underlined the severity of the disease and its relatively poor response to treatment.

height


Input: We report here a new cellular function of p27 as a transcriptional regulator in association with p130/E2F4 complexes that could be relevant for tumorigenesis.

tumorigenesis


Input: Episodes were generally mild, and nearly all cases resolved spontaneously or with discontinuation of calcium and vitamin D. The algorithms used to address hypercalcemia and hypercalciuria in the PaTH trial proved effective in safely resolving clinical episodes of increased urinary or serum calcium and might therefore be helpful to clinicians caring for patients on PTH.

PTH

mild


Input: Therefore, SOD1 mutations were present in 20. 0% of familial ALS patients and 1. 9% of sporadic ALS patients, while FUS mutations were responsible for 13. 3% of familial ALS cases, and TARDBP mutations were rare in either familial or sporadic ALS cases.

FUS

sporadic


Input: This translocation fused two genes, tel and AML1, that have previously been described in chromosomal translocations specific for myeloid malignancies.

translocation


Input: Mutations in mismatch repair genes (EXO1, MSH2, and MSH6) were associated with microsatellite instability, increased number of somatic insertions/deletions, and altered mutation signatures in tumors.

microsatellite instability


Input: Some FA gene products involved in redox homeostasis can be summarized as follows: (a) FANCA, FANCC, and FANCG interact with cytochrome P450-related activities and/or respond to oxidative damage; (b) FANCD2 in OS response interacts with forkhead box O3 and ataxia telangiectasia mutated protein; (c) FANCG is found in mitochondria and interacts with PRDX3, and FA-G cells display distorted mitochondria and decreased peroxidase activity; (d) FANCJ (BACH1/BRIP1) is a repressor of haeme oxygenase-1 gene and senses oxidative base damage; (e) antioxidants, such as tempol and resveratrol decrease cancer incidence and haematopoietic defects in Fancd2 (-/-) mice.

FANCG

telangiectasia


Input: Genes that have been previously associated with depression, AD, or other addiction-related phenotypes-such as CDH13, CSMD2, GRID1, and HTR1B-were implicated by nominally significant SNPs.

depression

depression


Input: A decreased percentage of CD29 + and CD11b + lymphocytes was observed in hyperthyroid patients in comparison with Hashimoto' s thyroiditis patients and healthy controls.

hyperthyroid


Input: Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p. E1392X).

brittle cornea syndrome

brittle cornea syndrome


Input: To characterize the impact of PTEN on the IGF-IGFR-IGFBP axis in gastric cancer, we overexpressed PTEN using an adenovirus gene transfer system in human gastric adenocarcinoma cells, SNU-484 and SNU-663, which lack PTEN.

IGFR

adenovirus


Input: From normal brain lysates, only heat shock cognate (HSC) 70, GRP75, and HSP110 bind to HspBP1.

shock


Input: Clusterin (CLU) protein is widely distributed in animal tissues and is involved in many different processes, including apoptosis and neoplastic transformation.

CLU

neoplastic transformation


Input: Among these genes, GABRA1 is a member of the same gene family with GABRA2 that was recently reported as alcoholism susceptibility gene.

alcoholism

alcoholism


Input: Taken together, our data describe a novel EGR1/AE2/P16/P-ERK signaling pathway in colon carcinogenesis, with implications for pathologic prognosis and for novel therapeutic approaches.

carcinogenesis


Input: PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

brain malformations


Input: Here, we describe using in vitro cleavage assays that RAG proteins directly bind to and introduce nicks into TEL and AML1 translocation regions, which contain several heptamer-like sequences.

translocation


Input: miRNA-dependent cross-talk between VEGF and Ang-2 in hypoxia-induced microvascular dysfunction.

VEGF

hypoxia


Input: Y-box binding protein-1 (YB-1) expression in the mammary gland promotes breast carcinoma that demonstrates a high degree of genomic instability.

genomic instability


Input: This translocation causes expression of the RUNX1-ETO (AML1-ETO) fusion protein, which cooperates with additional mutations in leukemia development.

translocation


Input: TAR DNA-binding protein 43 (TDP-43) and fused in sarcoma (FUS) were recently found to cause familial and sporadic amyotrophic lateral sclerosis (ALS).

FUS

sporadic


Input: Two novel mutations in the EPM2A gene in a Korean patient with Lafora' s progressive myoclonus epilepsy.

Lafora' s progressive myoclonus epilepsy

Lafora' s progressive myoclonus epilepsy


Input: Our data show that epileptogenesis in SER are associated with regulations of glutamate transporters and mGluR1, which might be potential targets for therapy in genetic epilepsy.

epilepsy

epilepsy


Input: We present clinical and molecular data on a series of five females with an Xq28 duplication including the MECP2 gene, both isolated and as the result of a translocation, and compare them with the previously reported cases of small duplications in females.

MECP2 gene

translocation


Input: We demonstrated that bcl-2 overexpression in M14 human melanoma cell line enhances hypoxia-induced VEGF mRNA stability and promoter activation.

VEGF

hypoxia


Input: In contrast, the B18 + subset was a dominant gamma delta T cell population among intraepithelial lymphocytes (IEL) derived from the human intestine (74 +/-29, p < 0. 002), and two of three IEL clones from patients with coeliac disease were B18 +.

coeliac disease


Input: Furthermore, the multifactor dimensionality reduction and classification and regression tree analyses identified MGMT F84L as the predominant risk factor for glioma and revealed strong interactions among ionizing radiation exposure, PARP1 A762V, MGMT F84L, and APEX1 E148D.

regression


Input: We investigated mRNA expression levels using reverse transcription-polymerase chain reaction of genes involved in cholesterol uptake (macrophage scavenger receptor (MSR1), scavenger receptor class B member 1 (SRB1), lectin-like oxidized low-density lipoprotein (LDL) receptor 1 (LOX1), CD36, LDL receptor (LDLR)), reverse cholesterol transport (apolipoprotein E (ApoE), ATP-binding cassette sub-family A member 1 (ABCA1)) and inflammation (tumour necrosis factor-alpha (TNF-alpha), macrophage inflammatory protein-1alpha (MIP-1alpha), interleukin-6 (IL-6), tissue factor) in CD14 (+) monocytes from 119 consecutively recruited patients and found that median CD36 mRNA expression levels were significantly increased in patients with CHD compared with controls (111 x 10 (3) vs 96 x 10 (3) copies/10 (6) copies beta-actin, respectively; n = 79 and 40, respectively; P < 0. 05), despite a high interindividual variability in gene expression.

beta-actin

inflammation


Input: These results suggest that the polymorphisms in the coding region of the IKAP gene are unlikely to contribute to atopic disease risk in the Czech population.

IKAP

atopic


Input: We studied in control and hypothyroid rats the effect of a cannabinoid agonist on spatial memory, hippocampal phosphorylation of CREB and expression of early genes.

CREB

hypothyroid


Input: The nonlipid-related properties of apoE include modulating inflammation and oxidation, suppressing T cell proliferation, regulating macrophage functions, and facilitating lipid antigen presentation by CD1 molecules to natural killer T (NKT) cells, and so forth.

inflammation


Input: A novel KIT gene missense mutation in a Japanese family with piebaldism.

KIT

piebaldism

KIT

piebaldism


Input: BRAF and KRAS mutations in stomach cancer.

KRAS

stomach cancer

KRAS

stomach cancer


Input: PTP1B promotes aggressiveness of breast cancer cells by regulating PTEN but not EMT.

PTEN

aggressiveness


Input: GPC-3 levels in HCC patients are related to HBV infection, TNM stage, periportal cancerous embolus, and extrahepatic metastasis.

GPC

embolus


Input: VEGF, an endothelial-cell-specific mitogen, is abundantly expressed in glioma cells which reside along necrotic areas, whereas flt-1, a tyrosine-kinase receptor for VEGF, is expressed in tumor endothelial cells, but not in endothelial cells in normal adult brain.

VEGF

necrotic


Input: In hypoxic or pVHL-defective cells, HIF1α accumulates, binds to HIF1β, and transcriptionally activates genes such as VEGF.

VEGF

hypoxic


Input: Mice carrying a targeted disruption near the N-terminus of whirlin manifest retinal and inner ear defects, reproducing the clinical features of human USH2 disease.

whirlin

whirlin


Input: As macrophage infiltration and pronounced EMT tumor phenotype correlate with increased grade in NSCLC patients, we propose that TAMs also promote tumor progression by inducing EMT locally in tumors.

EMT

tumor progression


Input: Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

ADSL

adenylosuccinate lyase deficiency

ADSL

adenylosuccinate lyase deficiency


Input: Here we constructed a novel computational model of microRNA control of HIF-VEGF pathway in endothelial cells to quantitatively investigate the role of HRMs in modulating the cellular adaptation to hypoxia.

VEGF

hypoxia


Input: Novel K12 mutations were linked to Meesmann' s corneal dystrophy in two different patients.

Meesmann' s corneal dystrophy

Meesmann' s corneal dystrophy


Input: In conclusion, these results suggest that IL-13 overexpression in the rat could lead to podocyte injury with downregulation of nephrin, podocin, and dystroglycan and a concurrent upregulation of B7-1 in the glomeruli, inducing a minimal change-like nephropathy that is characterized by increased proteinuria, hypoalbuminemia, hypercholesterolemia, and fusion of podocyte foot processes.

nephrin

hypercholesterolemia


Input: with hepatocellular carcinoma and C2S [64-year-old] with liver cirrhosis, respectively) who were infected with HCV of the same genotype (1b) and had a high-titer HCV RNA in the serum (bDNA probe assay, 17 Meq/ml [C1S] and 15 Meq/ml [C2S]).

hepatocellular carcinoma


Input: Our results suggest that TACR3 is unlikely to be related to the development of schizophrenia in the Japanese population.

schizophrenia

schizophrenia


Input: Polydatin prevents angiotensin II-induced cardiac hypertrophy and myocardial superoxide generation.

angiotensin II

cardiac hypertrophy

angiotensin II

cardiac hypertrophy


Input: DHEA up-regulated the expression of peroxisome proliferator-activated receptor (PPAR), PPAR beta, but not PPARgamma or PPARalpha, and the expression of IkappaBalpha gene in myeloma cells and bone marrow stromal cells, which could explain the suppressive effect of DHEA on IL-6 production through the down-regulation of NF-kappaB activity.

PPAR

myeloma


Input: In conclusion, SNAT2 not only regulates mTOR but also regulates proteolysis through PI3K and provides a link among acidosis, insulin resistance, and protein wasting in skeletal muscle cells.

acidosis


Input: Expression of VEGF was correlated significantly with vascular proliferation (p < 10 (-5)) and necrosis (p < 10 (-5)), as well as with microvessel density (p = 0. 002, rs = 0. 41).

VEGF

necrosis


Input: There was also evidence of a possible interaction (p = 0. 02, etap (2) = 0. 09) of BDNF genotype with DAT1 3' VNTR with tic severity.

BDNF

tic


Input: Here, Gas5 is found to be downregulated in glioma specimens and U87 and U251 glioma cell lines.

glioma


Input: PROP1 mutations are the most common cause of genetic combined pituitary hormone deficiency (CPHD).

pituitary hormone deficiency


Input: Our current study suggests that ADM-expressing monocytes that infiltrate the coronary vascular wall may be the cause of coronary dilation in the acute phase of KD.

ADM

dilation


Input: This work raises the possibility that the PfEMP1 molecules encoded by var-CS2 and varP may be minor contributors to placental malaria but also confirms the importance of the immunodominant, conserved var2csa PfEMP1s in pregnancy associated malaria and strengthens the case for var2csa as a pregnancy-specific malaria vaccine.

varP

malaria


Input: Prevention of onset of Parkinson' s disease by in vivo gene transfer of human hepatocyte growth factor in rodent model: a model of gene therapy for Parkinson' s disease.

hepatocyte growth factor

Parkinson' s disease

hepatocyte growth factor

Parkinson' s disease


Input: Our results demonstrate that cytogenetics and FISH are useful techniques for the evaluation of the anti-CML effect of immune cells and that CIK or DC-CIK can be appropriate candidates for adoptive immune cell therapy in vivo or for leukemia cell purging ex vivo.

FISH

leukemia


Input: Molecular analysis of the SRD5A2 gene resulted in the identification of 18 mutations in 11 homozygotes, 6 compound heterozygotes, and 4 inferred compound heterozygotes from 23 families with 5 alpha-reductase deficiency.

5 alpha-reductase deficiency

5 alpha-reductase deficiency


Input: Furthermore, distribution of beta-catenin was observed and data showed beta-catenin was accumulated in the nucleus in Mock-231, while disappeared from the nucleus and mainly accumulated near the cell surface membrane in E-cad-231.

beta-catenin

cad


Input: Taken as a whole, these observations demonstrate that DCX-related disorders are clinically heterogeneous, with severe sporadic and milder familial subcortical band heterotopia, each associated with specific DCX mutations.

DCX

sporadic


Input: This study was to explore the correlations of TS 5'-UTR polymorphism to lymph node metastasis of esophageal squamous cell carcinoma (ESCC) and the expression of TS protein.

UTR

metastasis


Input: Furthermore, interference with C3 activation with complement receptor-related gene y-Ig was associated with reduced vein graft thickening, reduced C3 and C9 deposition, and reduced inflammation as assessed by analysis of influx of inflammatory cells, such as leukocytes, T cells, and monocytes.

gene y

inflammation


Input: These results suggest that 11 β-HSD1 activity in liver and adipose tissue is a common mediator of hypertension, hypertriglyceridemia, glucose intolerance, and insulin resistance in metabolic syndrome.

glucose intolerance


Input: Amphiphilic dimers and monomers and hydrophilic dimers of AChE were identified in BHP and PC tissues.

AChE

PC

AChE

PC


Input: The hypoxic model to simulate hypoxic microenvironment in solid tumors was established and the effect of hydrocamptothecin (HCPT) on the hypoxia-induced over-expression of HIF-1alpha and VEGF genes was explored.

VEGF

hypoxia


Input: Experimental hypoxia was confirmed by significant upregulation of VEGF mRNA.

VEGF

hypoxia


Input: A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P & lt; 1 x 10 (-3)) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3.

CFB

SLE

CFB

SLE


Input: In the present study we have used FISH to analyze the incidence of trisomy 8 in acute leukemias following either a primary myeloproliferative disorder (MPD) or a myelodysplastic syndrome (MDS) and correlated it with both the immunophenotype and the cell-cycle distribution of the leukemic blast cells.

FISH

myeloproliferative disorder


Input: Nrf2-mediated transcriptional induction of antioxidant response in mouse embryos exposed to ethanol in vivo: implications for the prevention of fetal alcohol spectrum disorders.

fetal alcohol spectrum disorders

fetal alcohol spectrum disorders


Input: Since Duchenne muscular dystrophy was attributed to mutations in the dystrophin gene, more than 30 genes have been found to be causally related with muscular dystrophies, about half of them encoding proteins of the dystrophin-glycoprotein complex (DGC).

dystrophin

muscular dystrophies

dystrophin

muscular dystrophies


Input: Multivariate analysis, simultaneously considering other risk factors, including age at menarche, nulliparity or age at first full-term pregnancy, body mass index (BMI), hormone replacement therapy (HRT) and smoking status, showed that the NAT2 slow acetylator genotype was associated with an increased risk with borderline significance (Odds Ratio, 1. 81; 95% CI, 1. 01-3. 31).

body mass index


Input: CXCR3 was expressed by T cells and by astrocytes within the plaque.

plaque


Input: Concerning the Th1 and Th17 cells producing IFN-γ, IL-2, and TNF-α, a lower frequency was noted in chronic urticaria patients compared to HG.

IFN

chronic urticaria


Input: Consequently, mutations in Fam20C cause an osteosclerotic bone dysplasia in humans known as Raine syndrome.

Raine syndrome

Raine syndrome


Input: CRF alone produced a fall in blood pressure and heart rate.

CRF

fall in blood pressure

CRF

fall in blood pressure


Input: Surprisingly, 12 sequence alterations in the spatacsin gene (one of which is novel, IVS30 + 1 G & gt; A) were identified in 10 unrelated pedigrees with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival.

spatacsin

juvenile amyotrophic lateral sclerosis

spatacsin

juvenile amyotrophic lateral sclerosis


Input: For ACE I/D polymorphism, significant age-genotype interaction was detected on cross-sectional observation; the relation of body mass index, waist circumference, and diastolic blood pressure to age was significantly greater in persons with the DD genotype than in those with the ID or II genotype.

ACE

waist circumference


Input: A local immune responses to TEM8 may increase inflammation or tumor necrosis within the tumor, resulting in improved Ag presentation of HER2/neu and hTYRP1/hgp75.

inflammation


Input: Several ALS genes have been identified as their mutations can lead to familial ALS, including the recently reported RNA-binding protein fused in sarcoma (Fus).

RNA-binding protein

sarcoma


Input: Importantly, blockade of JNK signaling with SP600125 or small interfering RNAs targeting JNK1 or JNK2 significantly reduced the CD133 (+)/Nestin (+) population and suppressed sphere formation, colony formation in soft agar, and expression of stem cell markers in sphere-cultured glioma cells.

glioma


Input: JunB-CBFbeta signaling is essential to maintain sarcomeric Z-disc structure and when defective leads to heart failure.

JunB

heart failure


Input: Increased surface expression of CD18 and CD11b in leukocytes after tourniquet ischemia during elective hand surgery.

ischemia


Input: Inhibitor of differentiation 4 drives brain tumor-initiating cell genesis through cyclin E and notch signaling.

cyclin E

brain tumor


Input: Because mutations in the otoferlin C2 domains that cause deafness in humans impair the ability of otoferlin to bind syntaxin, SNAP-25, and the Cav1. 3 calcium channel, it is these interactions that may mediate regulation by otoferlin of hair cell synaptic exocytosis critical to inner ear hair cell function.

deafness


Input: This review focuses on the roles of Pin1 in neurodegenerative disorders including Alzheimer' s disease, Parkinson' s disease, amyotrophic lateral sclerosis, and Frontotemporal dementia associated with parkinsonism linked to chromosome 17.

amyotrophic lateral sclerosis


Input: Alpha1-Antitrypsin (AAT) protects elastic tissue and may play a role in atherogenesis.

AAT

atherogenesis


Input: The loss of the MMR proteins, which is indicative of microsatellite instability, was observed in one PGA (3%), 12 foveolar-type adenomas (52%), one intestinal-type adenoma (2%) and five adenocarcinomas (7%).

MMR

microsatellite instability


Input: We show that depletion of MUS81 and GEN1, or SLX4 and GEN1, from Bloom' s syndrome cells results in severe chromosome abnormalities, such that sister chromatids remain interlinked in a side-by-side arrangement and the chromosomes are elongated and segmented.

chromosome abnormalities


Input: Our data showed that CIITA is a repressor of Cyr61 synthesis in osteoblasts, and it might play a protective role in the pathogenesis of bone resorption in apical periodontitis, possibly through down-regulating the expression of Cyr61 in osteoblasts.

CIITA

bone resorption


Input: Notably, silencing MET in already established metastases led to their almost complete regression.

MET

regression


Input: Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities.

Meier-Gorlin syndrome

Meier-Gorlin syndrome


Input: The proliferative noduli of the fibromatosis were characterized by a diffuse immunostaining for alpha-smooth muscle actin, and single cells positive for desmin and the Ki-67 antigen.

smooth muscle actin

fibromatosis


Input: This translocation resulted in a chimeric transcript fusing the PDGFRbeta gene on 5q33 with a novel gene, CEV14, located at 14q32.

translocation


Input: Further, the PPARα/HIF1α interplay regulates the expression of the pro-inflammatory cytokine interleukin-6, the hypoxia survival factor carbonic anhydrase IX and the plasma lipid carrier apolipoprotein E. Our data demonstrate the importance of exploring the role of nuclear receptors (PPARα/PPARγ) in the regulation of pro-inflammatory pathways, with the aim to thwart breast cancer stem cells functioning.

PPARγ

hypoxia


Input: Mutations in the mismatch repair (MMR) enzymes hMLH1 and hMSH6 are known causes of hereditary nonpolyposis colorectal cancer and act by inducing a mutator phenotype characterized by microsatellite instability.

MMR

microsatellite instability


Input: However, studies of MFG-E8 expression in humans with ulcerative colitis are lacking.

ulcerative colitis


Input: Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

alveolar capillary dysplasia

alveolar capillary dysplasia


Input: Using RNase protection analysis, we studied the expression of follistatin in rat and mouse liver tumors as a possible mechanism to overcome activin growth control.

follistatin

liver tumors

follistatin

liver tumors


Input: A new 17p13. 3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X; 17 translocation.

translocation


Input: The deleted region contained 17 genes, five of which are known or presumed to be related to central nervous system disorders: FEZF2, SYNPR, ATXN7, PRICKLE2, and MAGI1.

central nervous system disorders


Input: EDRF (endothelium-derived relaxing factor)/nitric oxide does not seem to play an important role in the peptide-produced hypotension.

EDRF

hypotension


Input: We investigated whether the GSTT1, GSTM1 and GSTP1 gene polymorphisms modified the associations between TRAP exposure during the first year of life and asthma, wheeze and hay fever in adolescence.

TRAP

asthma


Input: Intriguingly, deletion of the Slc25a3 gene from the heart long-term resulted in profound hypertrophy with ventricular dilation and depressed cardiac function, all features that reflect the cardiomyopathy observed in humans with mutations in SLC25A3.

hypertrophy


Input: In contrast, factors such as nevus density and freckling propensity were strongly associated only with p53-immunonegative melanoma (OR 8. 6 for > 25 moles; OR 3. 0 for heavy facial freckling).

freckling


Input: In RCC786-0 VHL + cells, which were stably transfected with a wild-type copy of VHL, the mRNA levels of VEGF and Ang-4 were suppressed and the hypoxic response was restored.

VEGF

hypoxic


Input: West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.

West syndrome

West syndrome


Input: Transactive response DNA-binding protein 43 ubiquitinated inclusions are a hallmark of amyotrophic lateral sclerosis and of frontotemporal lobar degeneration with ubiquitin-positive inclusions.

DNA-binding protein

amyotrophic lateral sclerosis


Input: Compared with the controls, PCOS patients showed significantly higher levels of 3 & #946;-hydroxysteroid dehydrogenase1-2 (3 & #946;-HSD1-2), aldo-keto reductase 1C 1-3 (AKR1C1-3) and leptin, but lower level of P450 aromatase and 5 & #945;-reductase 1.

PCOS

PCOS


Input: In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2.


Input: Association of estrogen receptor β and estrogen-related receptor α gene polymorphisms with bone mineral density in postmenopausal women.

estrogen-related receptor α gene

bone mineral density


Input: Arsenic induces apoptosis of multidrug-resistant human myeloid leukemia cells that express Bcr-Abl or overexpress MDR, MRP, Bcl-2, or Bcl-x (L).

MRP

myeloid leukemia


Input: A positive correlation (p = 0. 0015) between TNF-β and IFN-γ was observed in the asymptomatic group, but a positive correlation was only observed (p = 0. 0180) between TNF-α and IL-6 in the HAM/TSP group.

asymptomatic


Input: YB-1 and ABCB5 were up regulated in the doxorubicin treated MCF-7 cells that resulted in certain degree of genomic instability that accompanied by the drug resistance phenotype.

genomic instability


Input: The number of smoking pack-years and smoke-free years predicted the prevalence of EGFR mutations (areas under receiver operating characteristic curve = 0. 78 and 0. 77, respectively).

EGFR

smoking


Input: In the present study we investigated the expression of Smad4 and Smad7 in thyroid cell lines (NPA papillary carcinoma, WRO follicular carcinoma and ARO anaplastic carcinoma) by RT-PCR and immunocytochemistry.

follicular carcinoma


Input: The expression of DNA methyltransferase (DNMT) mRNA was assessed in several brain regions of individuals who had committed suicide and had been diagnosed with major depression relative to that of individuals who had died suddenly as a result of factors other than suicide.

DNMT

suicide


Input: A novel t (4; 22) (q31; q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor.

extraskeletal Ewing sarcoma

extraskeletal Ewing sarcoma


Input: These mutations eventually converge on the abnormalities of the IL-6/Gp130/Jak2-mediated STAT3 transactivation on target genes, indicative of the dysregulation of JAK/STAT signalling present in HIES.

abnormalities


Input: Implementing this systematic approach, we: (i) discovered 177 putative SZ risk genes in brain, 28 of which map to linked chromosomal loci; (ii) delineated six biological processes and 12 molecular functions that may be particularly disrupted in the illness; (iii) identified 123 putative SZ biomarkers in blood, 6 of which (BTG1, GSK3A, HLA-DRB1, HNRPA3, SELENBP1, and SFRS1) had corresponding differential expression in brain; (iv) verified the differential expression of the strongest candidate SZ biomarker (SELENBP1) in blood; and (v) demonstrated neuronal and glial expression of SELENBP1 protein in brain.

SZ

SZ


Input: Corticosterone treatment during adolescence induces down-regulation of reelin and NMDA receptor subunit GLUN2C expression only in male mice: implications for schizophrenia.

schizophrenia

schizophrenia


Input: Plasma COL3A1 was increased in CRC patients (n = 86) by 5. 4 fold comparing with healthy individuals, enteritis and polyps patients.

polyps


Input: Analysis of the eyes of Abca4 (-/-) Rdh8 (-/-) mice that display light-induced retinal degeneration indicates that 11-cis-retinal and docosahexaenoic acid (DHA) levels were significantly decreased as compared with the eyes of control dark-adapted C57BL/6J mice.

retinal degeneration


Input: The results of preliminary immunoblotting in 1 patient with focal cortical dysplasia showed that the low-molecular-weight form of MAP2 (MAP2c) was strongly expressed in the dysplastic cortex, suggesting that MAP2c may be a major component contributing to the increased expression of MAP2 in the large neurons of cortical dysplasia.

weight


Input: To test the hypothesis that a locus in or near the human major histocompatibility complex (HLA) contributes to both involuntary fetal loss and neural tube defects (NTD), we evaluated sharing of antigens of the HLA-A, HLA-B, or HLA-DR loci of couples who had three or more first-trimester spontaneous abortions or who had a child with an NTD (myelomeningocele or anencephaly).

HLA-B

myelomeningocele


Input: Haemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular Hb (MCH), serum iron (Fe) serum transferrin (Trf), serum ferritin (Ft) and an inflammtory proteic profil (IPP) were measured.

MCH

mean corpuscular volume


Input: The TT/CT genotype of GRK4 A486V was associated with decreased risk for HBP relative to the CC genotype after adjusting for age, sex, and body mass index (p = 0. 028).

HBP

body mass index


Input: Deletion breakpoint sequencing allowed us to develop rapid polymerase chain reaction-based mutation screening, which confirmed the presence of the deletions in affected and asymptomatic individuals of families A, C, and M. While the exon 8 and exon 1-3 deletions appear to be novel, the MSH2 1-6 deletion found in family C is identical to the one recently documented in two branches of another unrelated Italian family (family V + Va).

asymptomatic


Input: The HepG2 cells were cultured in 21% O2 (normoxia) or 1% O2 (hypoxia) for 24 h. The release of netrin-1 from hypoxic cells was detected by ELISA.

hypoxic


Input: Indeed, patients with AD IL-17F deficiency or AR IL-17RA or ACT1 deficiency display CMC and, to a lesser extent, superficial staphylococcal diseases.

staphylococcal diseases


Input: All cases were studied by combined binary ratio multicolor fluorescence in situ hybridization (FISH) and with FISH using locus-specific probes for both arms of chromosome 8, the subtelomeric regions of 8p and 8q, and the leukemia-associated genes FGFR1, MOZ, ETO, and MYC.

FISH

leukemia


Input: Collectively, these findings suggest that AT-101 may preferentially induce apoptosis in leukemia cells by interrupting the RhoA/ROCK1/PTEN pathway, leading to Akt inactivation, Mcl-1 downregulation, Bad dephosphorylation, and Bax translocation, which culminate in mitochondrial injury and apoptosis.

translocation


Input: Using a combination of immunohistochemical studies [cytokeratins 7 and 20, E-cadherin, beta-catenin, p53, MLH-1, MSH-2, MSH-6, and O6-methylguanine methyltransferase (MGMT)], DNA sequencing [beta-catenin, adenomatous polyposis coli (APC), p53, KRAS, and BRAF], and a polymerase chain reaction-based microsatellite instability assay; we assessed each case for abnormalities in the Wnt signaling and mitogen-activated protein kinase pathways and DNA repair mechanisms.

E-cadherin

abnormalities


Input: (3) A significant gene environment interaction, super multiplicative type 4 interaction, was shown between both ACT AT and TT genotypes and primary hypertension with an interaction index (r) value of 2. 84 and an OR value of 15. 92.

ACT

primary hypertension


Input: Moreover, protein and mRNA expressions of MLN64 that regulating cholesterol transport and activating protein 2 & #947; (AP2 & #947;/Tfap2c) that controlling P450scc/CYP11a gene expression in placenta were both decreased following maternal cocaine use in pregnancy.

cocaine use

cocaine use


Input: Three genes in the 4q33-35. 1 haplotype region were also differentially expressed in schizophrenia in postmortem dorsolateral prefrontal cortex: AGA, HMGB2, and SCRG1.

AGA

schizophrenia

AGA

schizophrenia


Input: We found: (1) the BCSG1 gene was universally demethylated in all breast tissues regardless of the tissue state, although 50-60% of the samples displayed methylated products as well; (2) DNA methylation correlated to the expression of the BCSG1 gene in tumor tissues, but not in non-neoplastic adjacent and benign tissues; (3) breast tumor tissues expressed lower BCSG1 than non-neoplastic adjacent tissues.

non-neoplastic


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

schizophrenia

schizophrenia


Input: ], solute carrier family 1, member 6 [SLC1A6], F-box protein 7 [FBX07] and vacuole 14 protein homolog [VAC14]) distinguished most classes of fatigued subjects from healthy subjects, whereas others (patched homolog 2 [PTCH2] and T-cell leukemia/lymphoma [TCL1A]) differentiated specific fatigue classes.

F-box protein 7

lymphoma


Input: MMR status was determined by a microsatellite instability assay.

MMR

microsatellite instability


Input: Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).


Input: FISH showed positivity for the IgH/BCL2 translocation in 96% of patients and PCR in 59% of patients.

translocation


Input: FIP1L1-PDGFRA-Positive Chronic Eosinophilic Leukemia: A Low-Burden Disease with Dramatic Response to Imatinib-A Report of 5 Cases from South India.

PDGFRA

Chronic Eosinophilic Leukemia

PDGFRA

Chronic Eosinophilic Leukemia


Input: Seventy-three percent of patients were found to have LOH at one or more loci on chromosome bands 9p21-p22, and LOH occurred more frequently in patients with a family history of upper gastrointestinal cancer than in those with a negative family history (P = 0. 01, global permutation test).

gastrointestinal cancer


Input: We have previously reported on a high prevalence of high renin essential hypertension in psoriasis.

renin

psoriasis

renin

psoriasis


Input: We conclude that the intact carboxy-terminal cell-binding domain of TSP is essential for the adhesion of sickle RBCs under flow conditions.

TSP

adhesion


Input: We have generated Ad-TetON, a replication-deficient adenovirus that constitutively expresses the reverse tet-responsive transcriptional activator, and Ad-TRE-p27, which drives expression of p27 under the control of the tet response element.

TRE

adenovirus


Input: When grouping the patients by the VDR gene polymorphism, only PTH continued to be an independent predictor of spinal bone density in the bb allele subgroup (R2 adj.

PTH

bone density


Input: In contrast, the HLA-DRB1 * 1101 + haplotypes were significantly higher in asthmatics compared with atopic and non-atopic controls (19. 6% vs 2. 2% vs 2. 3%, PC < 0. 05).

atopic


Input: Novel symptoms associated with NKX2-1 mutations comprise abnormal height, bouts of fever and cardiac septum defects.

fever


Input: Hemophilia A is a common X-linked bleeding disorder caused by mutations in the coagulation factor VIII gene.

coagulation factor VIII

Hemophilia A

coagulation factor VIII

Hemophilia A


Input: In the present study, the potential roles of c-Jun and transforming growth factor (TGF)-beta 1 in AM-induced inflammation and fibrogenesis were examined after intratracheal administration of AM (1. 83 micromol/day on days 0 and 2) or an equivalent volume (0. 4 ml) of distilled water to male Fischer 344 rats.

c-Jun

inflammation


Input: Our purpose was to verify the extent to which exonic deletions or duplications of the DCX gene would account for sporadic SBH with A > P gradient but normal gene sequencing.

DCX gene

sporadic


Input: The abilities of adhesion and invasion were inhibited significantly by Ad-TIMP3 as well.

adhesion


Input: We conclude that U1i represents an alternative to RNAi for the therapeutic silencing of pathologically upregulated genes and demonstrate the functional relevance of Pim-1 oncogene knockdown in glioblastoma.

Pim-1 oncogene

glioblastoma

Pim-1 oncogene

glioblastoma


Input: Mutations have been identified in dynein motor (DYNC2H1), in intraflagellar transport (IFT) complexes (IFT80, IFT122, IFT43, WDR35, WDR19, and TTC21B) as well as in genes responsible for the basal body (NEK1, EVC, and EVC2).

EVC

EVC


Input: As RBM12 has not previously been linked to psychosis, this work provides new insight into psychiatric disease.

psychosis

psychosis


Input: We thus focused on two enzymes, cystathionine-gamma-lyase (CSE) that generates H (2) S from l-cysteine, and rhodanese that directly or indirectly detoxifies H (2) S, particularly in relation to the colitis induced by dextran sulfate sodium (DSS) in mice.

CSE

colitis


Input: AML1 is also involved in a translocation with chromosome 3 that is seen in patients with therapy-related acute myeloid leukemia and myelodysplastic syndrome and in chronic myelogenous leukemia in blast crisis.

translocation


Input: Knockdown of Yki caused cardiac dilation without loss of cardiomyocytes and prevented Raf-induced cardiac hypertrophy.

Yki

dilation


Input: Six genes were associated with preterm birth among European Americans: interleukin 12A (IL12A); colony-stimulating factor 2 (CSF2); interferon γ receptor 2 (IFNGR2); killer cell immunoglobulin-like receptor, three domain, long cytoplasmic tail, 2 (KIR3DL2); interleukin 4 (IL4); and interleukin 13 (IL13).

preterm birth


Input: Although it is not yet possible to identify the genes targeted by the deletion, interphase FISH screening showed that the deletion was seen in SMZL (19/56 = 34%) and splenic B-cell lymphoma/leukaemia unclassifiable (3/9 = 33%), but not in 39 cases of other splenic lymphomas including chronic lymphocytic leukaemia (n = 14), hairy cell leukaemia (4), mantle cell lymphoma (12), follicular lymphoma (6), and others.

FISH

leukaemia


Input: We have constructed a long-range physical map for 12 markers, including genes for GRIA4, IL1BC, and ACAT, across 9 Mb of chromosome 11q22-q23 in the region of the major locus for ataxia-telangiectasia (A-T).

ACAT

telangiectasia


Input: The clinical responses were correlated with the expression of the TLR4 gene of ascites cells.

TLR4 gene

ascites


Input: Phenotypic analysis of the B domain-deleted FVIIISQ variants expressed in CHO cells correlated well with the patients' reduced FVIII activity and, in addition, surface plasmon resonance studies demonstrated that both missense mutations were associated with increased rates of A2 domain dissociation following thrombin activation.

FVIII

dissociation


Input: Histological grade was according to Isaacson' s criteria of GLH; CD20, UCHL-1 (CD45RO), anti-kappa (kappa), anti-lambda (lambda) and Ki-67 were used for immunohistochemical staining; semi-nested polymerase chain reaction (PCR) was used to detect IgH gene rearrangement and reverse-transcription PCR (RT-PCR) was used to detect API2-MALT1 fusion of the chromosome translocation t (11; 18) (q21; q21).

chromosome translocation


Input: BAG-1 protein expression was assessed using immunohistochemistry in 292 patients with invasive ductal carcinoma and correlated with clinicopathological variables, therapeutic response and disease outcome.

invasive ductal carcinoma

invasive ductal carcinoma


Input: The COMP gene mutation (C348R), while not previously published, is typical of those in PSACH patients, whereas the COL2A1 mutation (T1370M) is somewhat atypical, as it predicts an amino acid change within the carboxyl-terminal region of the protein.

COMP

PSACH

COMP

PSACH


Input: The 5-HTTLPR and the STin2 VNTR, but not the rs25531, polymorphisms of SERT are associated with PSD in stroke survivors.

PSD

stroke


Input: Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections.

complement factor D

factor D deficiency

complement factor D

factor D deficiency


Input: The NUP98 gene at 11p15 is known to be fused to DDX10, HOXA9, HOXA11, HOXA13, HOXD11, HOXD13, LEDGF, NSD1, NSD3, PMX1, RAP1GDS1, and TOP1 in various hematologic malignancies.

hematologic malignancies


Input: Patients with autoimmune abnormalities, however, demonstrated significantly lower FSH levels and higher anti-Mullerian hormone levels.

anti-Mullerian hormone

abnormalities


Input: Mouse cells in which MLL2 gene deletion can be induced display elevated levels of sister chromatid exchange, gross chromosomal aberrations, 53BP1 foci, and micronuclei.

chromosomal aberrations


Input: TSU-PR1 was originally reported as a prostatic carcinoma cell line derived from a lymph node metastasis.

prostatic carcinoma


Input: We measured at followup: repeat aCL-IgG, IgM aCL (aCL-IgM), antibodies to beta2-glycoprotein I (anti-beta2-GPI), lupus anticoagulant (LAC) antibodies, protein C, protein S, activated protein C resistance, factor V506 Leiden mutation, methyl tetrahydrofolate reductase (MTHFR) C677T genotype, and prothrombin 20210A gene mutation.

GPI

lupus anticoagulant


Input: We found that the high dose of PTH significantly increased tibial trabecular bone density parameters in control and diabetic mice, and the lower dose elevated trabecular bone parameters in diabetic mice.

PTH

bone density


Input: Furthermore, fluorescent microsphere and histological studies revealed increased blood flow and blood vessel density and reduced infarction size in MSC (GATA-4)-treated animals.

MSC

infarction


Input: Polymorphisms and haplotypes of integrinalpha1 (ITGA1) are associated with bone mineral density and fracture risk in postmenopausal Koreans.

bone mineral density


Input: In conclusion, neoplastic cells express VEGF in Hodgkin' s disease, as is the case in solid tumours, and this expression may be induced by hypoxia.

VEGF

hypoxia


Input: The seminal observations leading to these discoveries were the following: 1) mutations in FGF23 cause ADHR by limiting cleavage of the bioactive intact molecule, at a subtilisin-like protein convertase (SPC) site, resulting in increased circulating FGF23 levels and hypophosphatemia; 2) mutations in DMP1 cause ARHR, not only by increasing serum FGF23, albeit by enhanced production and not limited cleavage, but also by limiting production of the active DMP1 component, the C-terminal fragment, resulting in dysregulated production of DKK1 and β-catenin, which contributes to impaired bone mineralization; and 3) mutations in PHEX cause XLH both by altering FGF23 proteolysis and production and causing dysregulated production of DKK1 and β-catenin, similar to abnormalities in ADHR and ARHR, but secondary to different central pathophysiological events.

ADHR

hypophosphatemia


Input: Concurrent activation of BCL2 and MYC usually occurs in B cell non-Hodgkin lymphoma (B-NHL) by translocation of both oncogenes to both immunoglobulin heavy chain (IGH) alleles: this abrogates immunoglobulin synthesis.

translocation


Input: We report a novel transthyretin variant, Gly53Ala, in a 44-year-old British woman who presented with severe episodic headaches, often with focal neurological deficit, before developing progressive ataxia, depression, dementia and eventually peripheral neuropathy.

transthyretin

depression

transthyretin

depression


Input: Here, we report a newly diagnosed anti-Ca/ARHGAP26-IgG-positive patient who presented with recurrent psychotic symptoms but no cerebellar ataxia.

psychotic

psychotic


Input: The use of the human glioma cell line U87 appears to be an excellent model system both in tissue culture and in intracranial murine xenograft models to further characterize the role of sulfatides in modulating glioma responsivity to therapeutic agents.

glioma


Input: Other factors associated with strong p53 immunostaining include greater Breslow thickness (OR = 7. 4 for > 4. 00 vs. < 0. 76 mm), male sex (OR = 2. 2) and dense freckling (OR = 6. 6 vs. few freckles).

freckles


Input: We assessed the expression of the circadian genes ARNLT, ARNLT2, CLOCK, PER1, PER2, PER3, CRY1, CRY2 and the starvation-activated histone/protein deacetylase SIRT1 in 34 matched tumor and non-tumor tissue specimens of PC patients, and evaluated in PC derived cell lines if the modulation of SIRT1 expression through starvation could influence the temporal pattern of expression of the circadian genes.

starvation


Input: To examine the relationship between the-238 polymorphism and insulin resistance independent of potentially confounding factors, the relatives with the TNFA-A allele were individually pair-matched for age, sex, waist-hip ratio, body mass index, and glucose tolerance with relatives homozygous for the wild-type allele.

TNFA

waist-hip ratio


Input: The three coactivators, TIF-2, SRC-1 and RAC3, are up-regulated in relapsed prostate cancer.

prostate cancer

prostate cancer


Input: In RCC with necrosis the MVD was reduced in comparison with RCC without necrosis.

MVD

necrosis


Input: The N251K functional polymorphism in the alpha (2A)-adrenoceptor gene is not associated with depression: a study in suicide completers.

alpha (2A)-adrenoceptor

depression

alpha (2A)-adrenoceptor

depression


Input: The mRNAs for aFGF and bFGF were expressed in the cells of various tumors (1/1 and 1/1 astrocytoma, 2/2 and 2/2 anaplastic astrocytomas, 6/6 and 6/6 glioblastomas, 4/4 and 4/4 meningiomas, 3/3 and 3/3 schwannomas, 1/2 and 1/2 pituitary adenomas, 4/4 and 4/4 metastatic carcinomas, 0/1 an 0/1 hemangioblastoma, 0/1 and 0/1 craniopharyngioma) and were also detected in endothelial cells and surrounding neuronal cells of brain tumors.

aFGF

craniopharyngioma


Input: Twist1 mRNA levels correlated with adiponectin levels and inversely with insulin resistance as well as adipocyte volume (P < 0. 001 for all).

insulin resistance


Input: The FTO gene in Turkish adults contributes independently to obesity in women and-by interacting with BMI-to MetS and insulin resistance in men.

FTO gene

insulin resistance


Input: The data indicate that ML1 channel activity is regulated by a pH-dependent mechanism that is deficient in some MLIV causing mutations of the gene.

MLIV

MLIV


Input: The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called " double cortex ", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in doublecortin (DCX) in families and sporadic cases.

DCX

sporadic


Input: Down-modulation of Bcl-xL by antisense oligonucleotide activated apoptosis in HepG2 cells in response to cellular stresses induced by staurosporine treatment or by serum starvation.

Bcl-xL

starvation


Input: This study further revealed that PCA ameliorated HG-inflamed mesangial inflammation accompanying induction of intracellular cell adhesion molecule-1 and monocyte chemoattractant protein-1 (MCP-1) responsible for CTGF expression.

CTGF

inflammation


Input: The imaging-based ATF2 translocation assay was conducted using UACC903 melanoma cells that stably express doxycycline-inducible GFP-ATF2.

translocation


Input: These results suggest that IFN-alpha gene therapy is a promising strategy to treat HCC patients who have concomitant liver cirrhosis.

IFN-alpha

liver cirrhosis

IFN-alpha

liver cirrhosis


Input: Using combined linkage analysis and whole-exome sequencing in two families, we identified KLHL3 as a third gene responsible for FHHt.

FHHt

FHHt


Input: Leptin binds to the leptin receptor, present in the hypothalamus and in many other tissues, and modulates energy balance and maintenance of body weight.

leptin receptor

body weight


Input: A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A.

RET proto-oncogene

multiple endocrine neoplasia type 2A

RET proto-oncogene

multiple endocrine neoplasia type 2A


Input: Activation of cerebral PPARγ confers neuroprotection after ischaemic stroke by preventing both, neuronal damage within the peri-infarct zone and delayed degeneration of neurones and neuronal death in areas remote from the site of ischaemic injury.

PPARγ

infarct


Input: Subsequent FISH analysis with region-specific YAC clones was used to relate the phenotypic findings such as bilateral split hand formation, specific cardiac and kidney anomalies, microtia, and hypoplastic thorax more exactly to the partial trisomy of the segment 4q26-qter.

FISH

split hand


Input: Additionally, SP600125 induced the polyploidization of HEL cells, which are derived from a patient with erythroleukemia, and phosphorylation at Thr389 of S6K1 was detected.

erythroleukemia


Input: Dichotomy between RIP1-and RIP3-mediated necroptosis in tumor necrosis factor-α-induced shock.

shock


Input: Hereditary sensory neuropathy type I (HSN1) is the most common hereditary disorder of peripheral sensory neurons.

Hereditary sensory neuropathy type I

Hereditary sensory neuropathy type I


Input: Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis.

Hereditary pancreatitis

Hereditary pancreatitis


Input: Studies on correlation of CSCs and the cells undergoing EMT may explain some aspects of tumor progression and drug resistance.

EMT

tumor progression


Input: We analyzed the presence and frequency of C-terminal FUS/TLS mutations in a German amyotrophic lateral sclerosis (ALS) cohort, including 133 patients with sporadic ALS (SALS) and 58 patients with FALS by sequence analysis of exons 13-15.

TLS

sporadic


Input: Therefore, the study of leukocyte methylation levels reflects a putative epigenetic regulation of NPY and POMC, which might be implicated in the weight regain process and be used as biomarkers for predicting weight regain after dieting.

NPY

weight


Input: Cardioprotection by adenosine A1 receptor activation limits infarct size and improves post-ischaemic mechanical function.

adenosine A1 receptor

infarct


Input: Based on our recent findings that a non-neoplastic B-cell subset, the monocytoid B-cells, are T-bet positive and produce IFN-gamma, we propose that monocytoid and hairy B-cells have a similar function and that the T-bet-IFN-gamma axis is involved in the pathogenesis of HCL.

T-bet

non-neoplastic


Input: The variants of the causal genes were selected based on their functions, including: obesity (adrenergic, beta-3-, receptor: ADRB3), alcohol consumption (aldehyde dehydrogenase 2: ALDH2), water-electrolyte metabolism (guanine nucleotide binding protein [G protein], beta polypeptide 3: GNB3), glycometabolism (peroxisome proliferator-activated receptor gamma: PPARG), lipometabolism (cholesteryl ester transfer protein, plasma: CETP), atherosclerosis (5, 10-methylenetetrahydrofolate reductase [NADPH]: MTHFR), and cellular behavior (gap junction protein, alpha 4, 37 kD: GJA4).

alcohol consumption


Input: In endothelial cells, adenovirus-mediated overexpression of Gli3 promoted migration (modified Boyden chamber), small interfering RNA-mediated downregulation of Gli3 delayed tube formation (Matrigel), and Western analyses identified increases in Akt phosphorylation, extracellular signal-regulated kinase (ERK) 1/2 activation, and c-Fos expression; however, promoter-reporter assays indicated that Gli3 overexpression does not modulate Gli-dependent transcription.

adenovirus


Input: Recent reports of the transmission of systemic transthyretin (TTR) amyloidosis after domino liver transplantation (DLT) using grafts from patients with familial amyloid polyneuropathy (FAP) have raised concerns about the procedure.

DLT

amyloidosis


Input: This study describes the kinetic parameters of the apoB containing lipoproteins and sequence abnormalities of the APOB and PCSK9 genes of FHBL patients identified in a large hospital based survey.

APOB

abnormalities


Input: These findings suggest that MCP-1 secretion by RPMC may have a role in the initiation and/or potentiation of asbestos-induced pleural injury.

pleural

pleural


Input: In conclusion, ADM is induced by hypoxia and over-expressed in PDAC and might therefore serve as a potential tumor marker.

ADM

hypoxia


Input: CDH1, MET, and YAP1 were independent predictors of recurrence-free survival by Cox regression when corrected for tumor stage (p < 0. 0001).

MET

regression


Input: We investigated the association between single-nucleotide polymorphisms (SNPs) in the heat shock protein beta-1 (HSPB1) gene and the risk of radiation-induced esophageal toxicity (RIET) in patients with non-small-cell lung cancer (NSCLC).

esophageal


Input: Thus, we propose that the hypoxia-independent promotion of the AKT-HIF-1alpha-VEGF pathway contributes, at least in part, to gastric cancer tumorigenesis and angiogenesis.

VEGF

hypoxia


Input: This study indicates that major components of the miRNA pathway, such as the microprocessor complex and RISC, are dysregulated in epithelial skin cancer.

RISC

skin cancer


Input: A total of 166 patients with OSF from a medical center and 284 betel quid chewers who were free of OSF and oral cancer, from the same hospital and five townships, were recruited.

OSF

oral cancer


Input: Higher ratios of plaque volume/vessel volume were observed in patients with the CRP 1444TT (n = 11) and CD14 260TT (n = 33) genotypes (p = 0. 016 and p = 0. 026, respectively).

plaque


Input: The prevalence of partial ACT deficiency was highest in the chronic active hepatitis (5 of 40; PR, 12. 0 (5. 33-27. 0] and the cryptogenic cirrhosis (3 of 24; PR, 12. 0 (4. 38-32. 9] subgroups.]

ACT

chronic active hepatitis


Input: We analysed microsatellite instability (MSI) and expression of mismatch repair (MMR) proteins (MLH1, MSH2, and MSH6).

MMR

microsatellite instability


Input: The case with der (8) t (8; 9) had trisomy 9 (p22-pter) and monosomy 8 (p23-pter) due to this derivative chromosome.

trisomy 9


Input: The relation of Bcl-2 overexpression and copy number gains or translocation of the BCL-2 gene in prostate cancer under hormone-naïve conditions is unknown.

BCL-2 gene

translocation


Input: EG-VEGF, BV8, and their receptor expression in human bronchi and their modification in cystic fibrosis: Impact of CFTR mutation (delF508).

cystic fibrosis


Input: ADM was strongly induced by hypoxia and significantly increased invasiveness in 3/5 human pancreatic cancer cells.

ADM

hypoxia


Input: Whereas standard p24, ICD p24, and viral RNA levels changed similarly in response to treatment, the superior sensitivity and available dynamic range of plasma viral RNA assays like QC-PCR analysis provide an advantage for clinical monitoring of plasma viral load, allowing tracking of treatment-related changes even in patients with earlier stage disease and lower levels of viral load.

viral load


Input: In a consanguineous family with two affected children with severe growth retardation and normocephaly, we used homozygosity mapping and next-generation sequencing to identify a homozygous MAP4 variant.

growth retardation


Input: Direct sequencing of the mtDNA D-loop was performed in paired HCC and adjacent non-neoplastic liver tissues.

HCC

non-neoplastic


Input: " Severe AKI " had higher levels of plasma IL-10, MIF and IL-6 compared to " no AKI " and mild AKI (p < 0. 05 for each), with no difference in mHLA-DR at day 0.

mild


Input: The model predicted breast cancer mortality reductions of 42% to 47% for mammography, 48% to 61% for MRI, and 50% to 62% for combined screening.

MRI

breast cancer


Input: Of the positive clones isolated, two were found to correspond to the acute leukemia t (10; 11) associated AF10 gene, a fusion partner of MLL.

fusion partner of MLL

acute leukemia


Input: Sequence alterations in OPTN were found in 16. 7% of families with hereditary POAG, including individuals with normal intraocular pressure.

OPTN

POAG

OPTN

POAG


Input: In summary, the data from this study indicate that increased Cu transportation due to upregulated CTR1 and ATP7A in pulmonary arteries and PASMC contributes to the development of hypoxia-induced pulmonary hypertension.

pulmonary hypertension

pulmonary hypertension


Input: To study the potential benefit of the NURR1 gene in Parkinson' s disease (PD), we constructed a recombinant republic-deficit adenovirus containing the NURR1 gene (Ad-NURR1) and expressed it in transplanted neural stem cells (NSC).

adenovirus


Input: Through binding to the hypoxia-response element (HRE), these factors regulate expression of many genes, including vascular endothelial growth factor (VEGF).

VEGF

hypoxia


Input: Expression of RAR-beta2 mRNA and methylation status of the 5' region of RAR-beta2 gene were examined in 20 matched specimens from patients with cervical SCC and in three cervical cancer cell lines by Northern blot analysis and methylation-specific PCR (MSP) assay or Southern blot analysis respectively.

RAR

cervical cancer


Input: To determine the spectrum of nonpolio enterovirus (NPEV) serotypes associated with NP-AFP from polio-endemic and-free regions, we studied antigenic diversity of AFP-associated NPEVs.

AFP

enterovirus


Input: Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH, also known as pontocerebellar hypoplasia type 1 [PCH1]) is one of the rare infantile SMA variants that include additional clinical manifestations, and its genetic basis is unknown.

pontocerebellar hypoplasia type 1

pontocerebellar hypoplasia type 1


Input: Constitutional downregulation of SEMA5A expression in autism.

autism

autism


Input: Lower levels of IGF-I, and lower levels of circulating IL-1RA, are significantly (P & lt; 0. 05) associated with delirium, while the remaining of cytokines, severity of illness and possession of epsilon 4 allele had a non-significant effect.

delirium

delirium


Input: Furthermore, stroke was confirmed by MRI in a number of mildly symptomatic patients (11 cases) who had increased levels of total polyamine oxidase and acrolein.

polyamine oxidase

stroke

polyamine oxidase

stroke


Input: PRRX1 is mutated in a fetus with agnathia-otocephaly.

otocephaly

otocephaly


Input: A recent study has demonstrated that the TNF-alpha * 2 allele of a polymorphism in the TNF-alpha gene promoter region (G-308 A) is associated with a higher risk for the development of atopy in Spanish patients.

TNF-alpha

atopy


Input: Western blot and real-time PCR results indicated that the expression of heparanase and VEGF was increased under hypoxic conditions, and the increase of VEGF was inhibited by PI-88.

VEGF

hypoxic


Input: Treatment with nonselective anti-inflammatory drugs ibuprofen, indomethacin, or salicylic acid did not show any effect on angiotensin II-induced superoxide production, hypertension, or cardiac hypertrophy.

angiotensin II

cardiac hypertrophy

angiotensin II

cardiac hypertrophy


Input: Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivarcurium) in patients who have mutations in the BCHE gene.

BCHE

Butyrylcholinesterase deficiency

BCHE

Butyrylcholinesterase deficiency


Input: We conclude that Ebp1 has a key role in the upregulation of podoplanin and may contribute to oral tumorigenesis.

podoplanin

tumorigenesis


Input: PCAF KO mice showed no difference with WT C57BL/6j controls in their performances in the forced swimming and light/dark exploration box, suggesting no particular phenotype on anxiety and stress responses.

PCAF

anxiety


Input: Our results suggest that NOD2 mutations may result in perpetuation of mucosal inflammation through insufficient pathogen elimination.

mucosal inflammation


Input: In particular, HOXA1, which has been described as one of the HOX members that plays an important role in tumorigenesis, was significantly more expressed in OSCCs compared to healthy oral mucosas.

tumorigenesis


Input: Therefore, we investigated the role of AG490 in regulating brain oedema, expression of CD40 and neurological function after TBI.

brain oedema


Input: The P values of odds ratios to habitual smoking for CYP17A1, ESR1, EPHX1, GSTT2, ALDH2, NOS2A, OGG1, and SLC6A4 and those of odds ratios to habitual drinking for CYP1B1, ESR1, HSD17B3, GSTM3, COMT, ADH1C, ALDH2, NOS3, and NUDT1 were under 0. 05.

drinking


Input: Chromosomal rearrangements involving MALT lymphoma translocation gene 1 (MALT1) have been reported to be specific for MALT lymphoma.

translocation


Input: Therefore, NDRG2 is a candidate tumor-suppressor gene for OSCC development and probably contributes to the tumorigenesis of OSCC partly via the modulation of Akt signaling.

tumorigenesis


Input: In vitro, hGSPCs can transdifferentiate into VECs under hypoxia, they manifested typical " flagstone " pattern when cultivated in medium containing VEGF for a few days; when cultivated on Matrigel they were capable of forming capillary-like structures.

VEGF

hypoxia


Input: The patient makes a dystrophin protein which is properly localized and is present at a higher level than is observed in DMD patients.

dystrophin

DMD

dystrophin

DMD


Input: We investigated paraoxonase 2 (PON2), 5-lipoxygenase (5-LO), and 5-LO activating protein (FLAP) expression and malondialdehyde (MDA) levels in carotid lesions to assess their involvement in plaque formation.

plaque


Input: Several groups have shown that FUS binds broadly to many transcripts in the brain and have also identified a plethora of putative splice targets; however, only ABLIM1, BRAF, Ewing sarcoma protein R1 (EWSR1), microtubule-associated protein tau (MAPT), NgCAM cell adhesion molecule (NRCAM), and netrin G1 (NTNG1) have been identified in at least three of four studies.

NRCAM

sarcoma


Input: After confirming a heterozygous SEPT9 mutation (R88W) in the father and his mother, it became apparent that the dysmorphic features in the children were part of HNA and that previous complaints of the daughter, erroneously diagnosed as pronatio dolorosa and then epiphysiolysis of the capitellum humeri, were in fact a first neuralgic pain attack.

HNA

HNA


Input: In salivary gland pleomorphic adenoma, expression of extracellular matrix (ECM) substances indicates that tumor epithelial cells are becoming chondrogenic and will produce cartilage-like mesenchymal tissues.

ECM

salivary gland pleomorphic adenoma


Input: IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.

recurrent infections


Input: High glucose and hypoxia can independently induce endogenous active TGF-β (1) production in human proximal tubular cells.

TGF-β

hypoxia


Input: In CD, we found a negative association between ileal disease involvement and TLR1 S602I (P =. 03, OR [95% CI] 0. 522 [0. 286-0. 950]).

ileal disease


Input: The chromosomal translocation t (8; 21) (q22; q22) in acute myeloid leukemia (AML) can be detected by a reverse transcription-polymerase chain reaction (RT-PCR) for the chimeric AML1/ETO transcript.

chromosomal translocation


Input: Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal.

XX male

XX male


Input: Dyslipidemic apolipoprotein E-deficient mice chronically treated with intraperitoneal quercetin injections had smaller atheromatous lesions, reduced lipid deposition, and less macrophage and T cell inflammatory infiltrate in the aortic roots than vehicle-treated animals.

apolipoprotein E

atheromatous

apolipoprotein E

atheromatous


Input: Our observation indicates that telethonin deficiency may present in infancy with clinical features overlapping with mild forms of α-dystroglycanopathy.

telethonin

mild


Input: Chemerin concentrations were significantly higher in obese compared to lean children and correlated with obesity-related parameters such as body mass index sd score, leptin, and skinfold thickness.

Chemerin

body mass index


Input: In mild cases of CAPS, the serum IL-18 levels were not increased, although lipopolysaccharide-or hypothermia-enhanced IL-1β and IL-18 production levels by their peripheral blood mononuclear cells were detectable.

mild


Input: Cow' s milk increases the activities of human nuclear receptors peroxisome proliferator-activated receptors alpha and delta and retinoid X receptor alpha involved in the regulation of energy homeostasis, obesity, and inflammation.

retinoid X receptor alpha

obesity


Input: The supplementation of FGF-2 and BDNF attenuated various parameters of inflammation, including astrocytosis, microcytosis and IL-1 & #946; expression.

BDNF

astrocytosis

BDNF

astrocytosis


Input: The medicines we tested affected the pathological changes in HF-CCl4 rats to differing degrees: DF and G led to improvements in all of the above examined indexes, including an obvious improvement in histopathology, and DF improved serum ALT and MDA levels more markedly than G, whereas D extracts produced only mild liver injury attenuation.

mild


Input: Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.

myelin protein P0

Charcot-Marie-Tooth disease type 1B

myelin protein P0

Charcot-Marie-Tooth disease type 1B


Input: Additionally, retinal tissue sections from a patient with aceruloplasminemia, a disease causing iron overload in the retinal pigment epithelium (RPE), showed increased Aβ deposition in the RPE and drusen.

RPE

aceruloplasminemia


Input: In vitro analysis revealed that WISP1v stimulated the invasive phenotype of cholangiocarcinoma cells with activation of both p38 and p42/p44 mitogen-activated protein kinases (MAPKs).

cholangiocarcinoma


Input: When directly inoculated into mice, the recombinant adenovirus RAd51 was shown to elicit an antibody response to the TBEV NS1 protein.

adenovirus


Input: The third subgroup of four patients was characterized by MYCN amplification with 17q gain and 1p deletion, very rarely with 11q loss (one patient) through a translocation with a non-17q partner.

MYCN

translocation


Input: This stands as a first report of identification of a microRNA mediator that links hypoxia and the TGFβ signaling pathways, both of which are involved in regulation of breast cancer metastasis.

TGFβ

hypoxia


Input: Gene symbol: NDP. Disease: Norrie disease.

NDP

Norrie disease

NDP

Norrie disease


Input: In the present study, we tested whether central cannabinoid 1 (CB1) receptors participate in the control of arterial pressure during endotoxemia based on evidence that hypothalamic neurons express CB1 receptors and synthesize the endogenous CB anandamide.

endotoxemia


Input: Analysis of 84 genes, which are associated with oxidative stress and antioxidant defense, showed that 7 genes were significantly and differentially regulated, namely BCL2/adenovirus E1B 19kD-interacting protein 3 (BNIP3), 24-dehydrocholesterol reduc-tase (DHCR24), dual specificity phosphatase 1 (DUSP1), forkhead box M1 (FOXM1), nudix-type motif 1 (NUDT1), prostaglandin-endoperoxide synthase 2 (PTGS2), and scavenger receptor class A, member 3 (SCARA3).

adenovirus


Input: The EFHC1 gene on 6p12-p11 was previously described as the first susceptibility gene for juvenile myoclonic epilepsy (JME).

juvenile myoclonic epilepsy


Input: In a population-based case-cohort study where cases and the subcohort sample were matched on duration of smoking, we investigated the occurrence of lung cancer and histological subtypes of lung cancer in relation to deletion polymorphism in both GSTM1 and GSTT1, single nucleotide polymorphisms (SNPs) in GSTP1 (Ile105Val and Ala114Val) and a 3 base pair deletion polymorphism in GSTM3.

smoking


Input: After 72 h of exposure to 10 microM progesterone, 48% of the cells had undergone apoptosis and 40% were annexin V positive/propidium iodide positive indicating signs of necrosis.

annexin V

necrosis


Input: The authors describe the computed tomography (CT) and magnetic resonance imaging (MRI) findings of an 18-year-old man with renal cell carcinoma (RCC) associated with the Xp11. 2 translocation/transcription factor E3 (TFE3) gene fusion (Xp11 translocation carcinoma).

MRI

translocation


Input: The purpose of this study was to enumerate CD34 (+) cell numbers in blood and bone marrow from atopic asthmatics and control subjects and to test the hypothesis that there is an increased bone marrow pool of CCR3 (+) eosinophils in patients with atopic asthma, as compared with control subjects.

atopic


Input: Acute myeloid leukemia possessing jumping translocation is related to highly elevated levels of EAT/mcl-1, a Bcl-2 related gene with anti-apoptotic functions.

translocation


Input: Higher levels of hIRS-1 gene transcripts were observed in HCC tumors compared to adjacent non-involved normal liver.

HCC

HCC


Input: In this study, following intranasal infection with RSV, BALB/c mice showed a marked increase in the production of IL-33, with an elevated expression of ST2 mRNA as well as a massive infiltration of CD45 (+) ST2 (+) cells in the lungs, suggesting that during the early phase of RSV infection, IL-33 target cells which express ST2 on cell surface, may play a critical role for the development of RSV-induced airway inflammation.

inflammation


Input: The protein ENH is a cytoplasmic sequestration factor for Id2 in normal and tumor cells from the nervous system.

ENH

nervous system


Input: We also determined whether hypoxia directly affects the expression of vascular endothelial growth factor (VEGF), of VEGF receptors (Flt-1, Flk-1), and of type I and type IV collagens in activated hepatic stellate cells (HSCs) and the expression of VEGF in hepatocytes.

VEGF

hypoxia


Input: In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism.

Hartsfield syndrome

Hartsfield syndrome


Input: MGMT, GATA6, CD81, DR4, and CASP8 gene promoter methylation in glioblastoma.

glioblastoma


Input: Novel roles for MLH3 deficiency and TLE6-like amplification in DNA mismatch repair-deficient gastrointestinal tumorigenesis and progression.

tumorigenesis


Input: In contrast, only smoking (HR 0. 11; 95% CI: 0. 04-0. 32; p < 0. 001) was inversely associated with EGFR mutational status.

EGFR

smoking


Input: Results indicate a statistically significant interaction between CRHR1 genotype and the status of raising a child with FXS to predict social anxiety symptoms reported on the SPAI (rs7209436, P = 0. 0001).

social anxiety


Input: Surprisingly, perinecrotic tumor areas, which are supposed to be hypoxic, only rarely showed the expected increase in microvessel density and VEGF expression.

VEGF

hypoxic


Input: This amino acid substitution has not been previously described in the androgen receptor in patients with androgen insensitivity syndrome.

androgen receptor

androgen insensitivity syndrome

androgen receptor

androgen insensitivity syndrome


Input: A novel amber mutation in a beta zero-thalassaemia gene (beta 37TGG--> TAG), with direct detection by mapping the restriction fragments in amplified genomic DNA.

TAG

thalassaemia


Input: These findings suggest that NF-kappaB plays an important role in ANG II/ROS-induced skeletal muscle insulin resistance.

ANG

insulin resistance


Input: Inhibition of FGFR kinase corrects the aneuploidy, and oral administration of an FGFR inhibitor prolongs survival of mice harboring intracranial FGFR3-TACC3-initiated glioma.

aneuploidy


Input: Serum C-reactive protein concentrations correlated with increased weight loss (r = 0. 24, P < 0. 001).

C-reactive protein

increased weight


Input: Thus, inactive p53 is not associated with a susceptible cytotoxicity of Polo-like kinase 1 inhibition and could rather foster the induction of polyploidy/aneuploidy in surviving cells.

Polo-like kinase 1

aneuploidy


Input: We investigated the 5-HTT gene-linked polymorphic region (5-HTTLPR) and intron 2 (STin2) variants of this gene and their relationship to behavioral and clinical risk factors for suicide in a sample of depressed suicides (n = 106) and depressed control subjects (n = 152), diagnosed by means of proxy-based interviews.

HTT gene

suicide


Input: Epigenetic changes like hypermethylation of the promoter region of MMR genes as well as gene silencing are also responsible for the microsatellite instability phenotypes.

MMR

microsatellite instability


Input: We further demonstrate that GCN5 is upregulated in human colon cancer at the mRNA level.

colon cancer


Input: BHLHA9 harboring one of the three substitutions detected in MSSD-affected individuals eliminates entirely the transcription activation by these class I bHLH proteins.

MSSD

MSSD


Input: mRNA levels of ONECUT1, TCF2, PKHD1 and CYS1 were measured in pancreatic tissues and pancreatic cancer cell lines by quantitative reverse-transcriptase polymerase chain reaction (QRT-PCR).

pancreatic cancer


Input: Both mutations detected in ATM have been shown to be pathogenic, and the α-fetoprotein, a marker of ataxia telangiectasia, was found to be increased.

α-fetoprotein

telangiectasia


Input: We demonstrate that the cytogenetically defined translocation t (X; 18) (p11. 2; q11. 2) found in human synovial sarcoma results in the fusion of the chromosome 18 SYT gene to either of two distinct genes, SSX1 or SSX2, at Xp11. 2.

translocation


Input: In estrogen-sensitive breast cancer, high levels of E-cadherin fit with high levels of ERα and MTA3 (a component of the transcription Mi-2/NuRD complex with intrinsic DAC activity).

DAC

fit


Input: A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonyl-CoA carboxylase deficiency


Input: The data of transmission/disequilibrium test (TDT) analysis provide strong evidence for linkage of DR15 alleles and susceptibility to sporadic MS in patients with disease onset before 15 years.

TDT

sporadic


Input: No sign of CNTF-induced toxicity was observed; however, depression occurred in three subjects after removal of the last capsule, which may have correlated with the lack of any future therapeutic option.

CNTF

depression

CNTF

depression


Input: Moreover, hypoxia-induced MUC1 partially regulated two other hypoxia-inducible proangiogenic factors including vascular endothelial growth factor-A and platelet-derived growth factor-B.

hypoxia


Input: The SE and the IL10 GGC haplotype are associated with severe progression of radiographic damage, in contrast to the DQA1 * 05-DQB1 * 02 haplotype and the TNF-308A allele, which are associated with mild radiographic progression in early UA.

mild


Input: The t (16; 21) (p11; q22) translocation is a recurrent chromosomal abnormality found in several types of myeloid leukemia.

chromosomal abnormality


Input: Here, we describe MAP2-immunoreactivity patterns in a large series of various neuroepithelial tumors and related neoplasms (n = 960).

neoplasms


Input: A subject carrying CYP1A1 Val/Val or CYP1A1 Ile/Val in association with GSTM null genotype has 6. 90 times more risk to be infertile than a subject carrying CYP1A1 Ile/Ile in association with GSTM1 wild-type genotype (odds ratio: 6. 90, 95% confidence interval: 2. 29-19. 3).

infertile


Input: Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development.

acheiropodia

acheiropodia


Input: VEGF and ANG belong to a larger group of angiogenic genes that are up-regulated under hypoxic conditions.

VEGF

hypoxic


Input: Females with premature adrenarche and hyperandrogenemia are likely to bear heterozygous CYP21A2 mutations, therefore systematic evaluation of 17-OHP values in combination with the molecular testing of CYP21A2 gene is beneficial, b. carriers of the mild p. V281L, are at higher risk of androgen excess compared to carriers of other types of mutations.

CYP21A2 gene

mild


Input: 21 polyps from 13 patients were screened for BRAF and KRAS mutations, with assessment of promoter methylation in the DNMT1, DNMT3A, DNMT3B, DNMT3L MLH1, MGMT, and WIF1 gene promoters.

polyps


Input: Identification of a novel NOG mutation in a Chinese family with proximal symphalangism.

NOG

proximal symphalangism

NOG

proximal symphalangism


Input: In focal cortical dysplasia (FCD), MRI shows focal cortical thickening and simplified gyration.

MRI

focal cortical dysplasia


Input: Mechanistic studies showed that SHARP1 interacted with HIF-1α physically, and the protein level of HIF-1α and the mRNA level of its target genes (VEGFA, ANGPTL4 and CA9) were decreased by SHARP1 under hypoxia.

VEGFA

hypoxia


Input: We also evaluated differences in risk by estrogen receptor (ER) and progesterone receptor (PR) status in tumors, and the potential modification of the smoking association by N-acetyl transferase 2 (NAT2) genotype.

progesterone receptor

smoking


Input: The VEGF expression by pEpo-SV-VEGF-EpoUTR showed the highest specificity of the gene expression in the hypoxic cells.

VEGF

hypoxic


Input: Our data suggest the potential for developing a therapy for colorectal cancer based on targeting Dclk1-positive TSCs.

colorectal cancer

colorectal cancer


Input: We used UPII-mutant Ha-ras transgenic mice that develop hyperplasia and low-grade, papillary urothelial cell carcinoma to determine whether metformin has activity in a model of superficial bladder cancer.

UPII

hyperplasia


Input: Corticosterone produced dose-dependent increases in depression-like behavior and decreases in reelin expression, neurogenesis, and cell maturation regardless of mouse genotype.

reelin

depression

reelin

depression


Input: A single base-pair mutation in the Rc3h1 gene resulted in the manifestation of autoantibody production and sustained immunological inflammation characterized by excessive T follicular helper cell activation and formation of germinal centers.

Rc3h1 gene

inflammation


Input: In addition to hypoxia, peptide growth factors are known to regulate VEGF expression but the effect of stem cell factor (SCF), the ligand for c-Kit, on VEGF expression has not been characterized.

VEGF

hypoxia


Input: Adiponutrin gene expression was also analyzed in patients with different levels of insulin resistance.

Adiponutrin

insulin resistance


Input: Nelfinavir also decreased the hypoxic induction of HIF-1alpha, which also regulates the VEGF promoter, most likely by decreasing its translation.

VEGF

hypoxic


Input: COPZ2 (but not COPZ1) was down-regulated in the majority of tumor cell lines and in clinical samples of different cancer types.

cancer


Input: Possible mechanisms for this include cerebral inflammation, aberrant processing of Notch3, or disrupted intracellular calcium regulation.

inflammation


Input: By contrast, early-onset vincristine-induced peripheral neuropathy was characterised by upregulation of genes involved in cell cycle and proliferation, including AURKA (3 & #183; 31 times; p = 1 & #183; 04 & #215; 10 (-2)) and MKI67 (3 & #183; 66 times; p = 1 & #183; 82 & #215; 10 (-3)), and the presence of SNPs in genes involved in these processes-eg, GLI1 (rs2228224 [0 & #183; 13, 0 & #183; 02-0 & #183; 97, p = 1 & #183; 18 & #215; 10 (-2)] and rs2242578 [0 & #183; 14, 0 & #183; 02-1 & #183; 12, p = 3 & #183; 00 & #215; 10 (-2)]).

peripheral neuropathy

peripheral neuropathy


Input: DESIGN: Genomic DNA from 38 unrelated Tunisian patients with sporadic hydatidiform moles were screened by sequencing all NLRP7 exons.

sporadic


Input: In conclusion, our data show for the first time the contribution of TRAF3IP2 genetic variability in SLE susceptibility, providing further suggestions that common variation in genes that function in the adaptive and innate arms of the immune system are important in establishing SLE risk.

arms


Input: A blunting of GH responses in abstinent AD men was observed only among those with the most common HTR1B promoter diplotype.

GH

AD

GH

AD


Input: Hypotension, autonomic failure, and cardiac hypertrophy in transgenic mice overexpressing the alpha 1B-adrenergic receptor.

alpha 1B-adrenergic receptor

cardiac hypertrophy

alpha 1B-adrenergic receptor

cardiac hypertrophy


Input: Multiple novel loci merit further examination for association with lithium response in bipolar disorder patients, including one region that spans the GRIA2 gene, for which expression has been shown to be regulated by lithium treatment.

bipolar disorder

bipolar disorder


Input: To test this hypothesis, we constructed a bicistronic adenoviral vector expressing both the RPL23 and p53 genes (Ad-RPL23/p53) and compared its tumor-suppressor activity in human gastric cancer with that of a single gene vector for p53 (Ad-p53).

gastric cancer


Input: It is known that N-acetylcysteine (NAC) is effective in various experimental renal injury models; however, little information is available about the rat model of glycerol-induced rhabdomyolysis.

NAC

rhabdomyolysis


Input: TSA treatment did not alter the DNA-binding activity of Sp1 toward the P-Rex1 promoter; however, it facilitated the dissociation of the repressive HDAC1 and HDAC2 from the Sp1 binding region.

dissociation


Input: The autosomic dominant KID Syndrome (MIM 148210), due to mutations in GJB2 (connexin 26, Cx26), is an ectodermal dysplasia with erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness.

MIM

skin lesions


Input: Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.

epidermolytic hyperkeratosis

epidermolytic hyperkeratosis


Input: Alpers syndrome with mutations in POLG: clinical and investigative features.

POLG

Alpers syndrome

POLG

Alpers syndrome


Input: Here, we used next-generation resequencing of pooled DNA and individual Sequenom genotyping to test for associations between FRMD4B SNPs and ischemic and/or nonischemic cardiomyopathy in two independent populations.

cardiomyopathy


Input: Intratumoral spread of MV-NIS was noninvasively demonstrated by serial gamma-camera imaging of iodine-123 (123I) uptake both in MV-sensitive KAS-6/1 myeloma xenografts, which regressed completely after a single intravenous dose of MV-NIS, and in MM1 myeloma xenografts, which were unresponsive to MVNIS therapy.

myeloma


Input: The authors studied the expression of CD95 (Fas) in biopsy samples of normal skin (not exposed to sun) and compared it with chronically sun-exposed skin (as evidenced by solar elastosis), AK, squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), and keratoacanthomas (KA).

basal cell carcinoma


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

K-fgf

nervous system


Input: The treatment with Ang (1-7) attenuated STZ-induced nephropathy in rats by decreasing proteinuria, renal collagen content and by improving endothelial functions without preventing tubular damage.

STZ

nephropathy


Input: We found biochemical evidence suggesting that resveratrol protects against Wallerian degeneration by promoting the dissociation of SIRT1 and DBC1 in cultured ganglia.

Wallerian degeneration

Wallerian degeneration


Input: The purpose of the current study was to evaluate the importance of androgen receptor (AR) gene haplotypes and polymorphic CAG/GGN microsatellites in the aetiology of male infertility.

GGN

male infertility


Input: ERAP1 polymorphism is associated with ankylosing spondylitis among HLA-B27-positive individuals and the altered enzymatic activity of natural variants has significant effects on the HLA-B27 peptidome, suggesting a critical pathogenetic role of peptides in this disease.

spondylitis


Input: In contrast, a cluster of 5-7 individual seizures evoked by kainic acid (KA) rapidly (within 30 min) induced γ-H2AX in multiple neuronal populations in hippocampus and entorhinal cortex.

seizures


Input: These results suggest that increased NTSR1 expression may be an early event during colonic tumorigenesis and also contribute to tumor progression and aggressive behavior in colonic adenocarcinomas.

aggressive behavior


Input: Unadjusted analyses showed that compared with normal children, homozygous α (+)-thalassemia individuals had a higher prevalence of anemia (82. 3% versus 66. 8%, P = 0. 001), but a lower prevalence of low RBP (20. 5% versus 31. 4%, P = 0. 024).]

RBP

anemia


Input: The expression levels of LAMB1 and miR-124-5p were examined in glioma cell lines (U87 and U251) and GBM tissue samples by quantitative PCR and Western blotting.

glioma


Input: These results suggested that PAX4 R192H polymorphism generated a protein with defect in transcriptional repressor activities on its target genes, which may lead to & #946;-cell dysfunction associated with MODY and early onset-age of T2D as reported in our previous study.

MODY

MODY


Input: The MSH6 G39E germline polymorphism is not associated with an increased risk of either microsatellite stable or unstable sporadic colorectal cancer.

sporadic


Input: Immunohistochemical analysis of several candidates confirmed the SAGE findings, and suggested the involvement of the PI3K-Akt and MAPK signaling pathways in endometriosis.

SAGE

endometriosis


Input: The metformin-treated group showed increased VEGF expression, intratumoral microvascular density and reduced necrosis.

VEGF

necrosis


Input: By studying the effect of hypoxia on VV infection, we found that vascular endothelial growth factor A (VEGF-A) augments oncolytic VV cytotoxicity.

VEGF-A

hypoxia


Input: We conclude that paclitaxel transiently transactivates EGFR, leading to activation of cell survival factors, such as ERK and AKT, and expression of survivin, which are all inclusively accountable for ovarian cancer cell resistance to paclitaxel treatment.

ERK

ovarian cancer

ERK

ovarian cancer


Input: The existence of distinguishing molecular features was explored in a series of serrated polyps and matched normal mucosa from patients with and without hyperplastic polyposis by assessing mutation of BRAF, DNA methylation in 14 markers (MINTs 1, 2 and 31, p16, MGMT, MLH1, RASSF1, RASSF2, NORE1 (RASSF5), RKIP, MST1, DAPK, FAS, and CHFR), and immunoexpression of MLH1.

polyps


Input: Androgen insensitivity syndromes are due to defects in the androgen receptor gene.

androgen receptor

Androgen insensitivity syndromes

androgen receptor

Androgen insensitivity syndromes


Input: To test the effects of MAPK inhibitors on beta-cell death by necrosis or apoptosis, these cells were exposed for 6 or 9 days to IL-1 beta + IFN-gamma.

IL-1 beta

necrosis

IL-1 beta

necrosis


Input: ATP binding cassette transporters (ABCA1, ABCG1) and scavenger receptor class B type I (SR-BI) are the three most important cellular cholesterol transporters that may prevent atherogenesis.

atherogenesis


Input: We report on five fetuses with giant diencephalic hamartoma and other midline brain and facial malformations, without mutation in the GLI3 gene or genomic rearrangements in three of them.

GLI3 gene

giant


Input: Nucleic acids from prospective nested series of 123 patients with Cowden syndrome or Cowden-like syndrome and 50 unaffected individuals without PTEN variants were analyzed for germline methylation and expression of PTEN and KILLIN at the Cleveland Clinic, August 2008-June 2010.

KILLIN

Cowden syndrome

KILLIN

Cowden syndrome


Input: Positive correlations were observed between anti-PAD4 and disease duration; anti-CCP and erythrocyte sedimentation rate (ESR); anti-MCV and ESR and C-reactive protein.

erythrocyte sedimentation rate


Input: Furthermore, hypoxia induced both vascular endothelial growth factor (VEGF) and VEGF receptor-2 expression through the Rho/ROCK/HIF-1alpha signaling in HUVECs.

VEGF

hypoxia


Input: Interferon-stimulated gene 15 (ISG15) conjugates proteins in dermatomyositis muscle with perifascicular atrophy.

atrophy


Input: Bcl-2/adenovirus E1B 19 kDa-interacting protein 3 (BNIP3) expression is epigenetically regulated by one-carbon metabolism in invasive duct cell carcinoma of breast.

adenovirus


Input: Significant genotype differences were observed in podocyte foot process effacement for rs1187321 and rs1187323 of NTRK2.

podocyte foot process effacement


Input: RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.

Leber Congenital Amaurosis

Leber Congenital Amaurosis


Input: The reported abnormalities represent a wide spectrum of changes including increased GFR, normal or decreased RPF, slight increase in blood pressure (although within the normal range), and an exaggerated natriuresis response to a sodium load.

GFR

abnormalities


Input: We studied 22 polymorphisms in relevant candidate genes, some related to periodontitis, in children with NTM lymphadenitis.

NTM

periodontitis


Input: We report a case of a primary synovial sarcoma of the distal duodenum with SYT/SSX2 type of the t (X; 18) translocation.

translocation


Input: Further, SERPINA3K blocked the overexpression of proinflammatory factors, such as VEGF, TNF-alpha, and ICAM-1, in the retina of the OIR model and in cultured retinal cells exposed to hypoxia.

VEGF

hypoxia


Input: Therefore, here we have shown that FBXO25 is a novel F-box protein analogous to atrogin-1, which is not involved in muscle atrophy.

muscle atrophy


Input: The findings substantiate an association between PSD and stroke.

PSD

stroke


Input: Severity of meningococcal disease in children and the angiotensin-converting enzyme insertion/deletion polymorphism.

angiotensin-converting enzyme

meningococcal disease

angiotensin-converting enzyme

meningococcal disease


Input: Characterization of common genetic variants in cathepsin K and testing for association with bone mineral density in a large cohort of perimenopausal women from Scotland.

cathepsin K

bone mineral density


Input: We tested DNA extracted from 85 lung adenocarcinoma specimens collected from 40 Hispanic and 43 non-Hispanic white patients for previously reported mutations in KRAS, MET, BRAF, mTOR, STAT3, JAK2, PIK3CA, AKT1 through AKT3, and PTEN with a custom Sequenom massARRAY assay (Sequenom, San Diego, California).

lung adenocarcinoma


Input: Variation in CAG and GGN repeat lengths and CAG/GGN haplotype in androgen receptor gene polymorphism and prostate carcinoma in Nigerians.

GGN

prostate carcinoma


Input: STAB1 is located in close proximity to PBMR1 and the NEK4-ITIH1-ITIH3-ITIH4 region, which are the top findings from GWAS meta-analyses of mood disorder, and a combined BD and schizophrenia data set.

BD

BD


Input: Further immunohistochemical characterization of BRD1 a new susceptibility gene for schizophrenia and bipolar affective disorder.

bipolar affective disorder

bipolar affective disorder


Input: Addition of recombinant PAPP-A to ascites increased the cleavage of IGFBP-4 and enhanced IGF-IR activation (P < 0. 05).

IGF

ascites


Input: FGFR1,-2, and-4, VEGFR2, PDGFRα, and p16 were overexpressed in primary human pheochromocytomas and paragangliomas.

paragangliomas


Input: Like NPY, the gut hormone PYY has the potential to attenuate depression-like behaviour but does not share the ability of NPY to reduce anxiety-like behaviour.

PYY

depression

PYY

depression


Input: Fludarabine reduces survivability of HepG2 cells through VEGF under hypoxia.

VEGF

hypoxia


Input: In addition, ARID3B has been linked to cellular immortalization, epithelial-mesenchymal transition (EMT) and tumorigenesis.

tumorigenesis


Input: Because hypoxia mediates VEGF up-regulation through hypoxia-inducible factor-1alpha (HIF1alpha) induction, we studied the relationships of hypoxia, HIF1alpha expression, and expression of VEGF in this damage pathway.

VEGF

hypoxia


Input: These data confirm the association of the T9176C mutation with LS and extend the clinical heterogeneity of mutations in the ATPase 6 gene.

ATPase 6

LS

ATPase 6

LS


Input: The results suggest a correlation between clinical manifestations and qualitative and quantitative abnormalities of XPA protein products.

XPA

abnormalities


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

GGT

inflammation


Input: Previous evidence of significantly greater DBP pressor effects when caffeine is consumed under stressful conditions was confirmed.

DBP

caffeine


Input: MRI and MRS findings in fucosidosis; a rare lysosomal storage disease.

MRI

lysosomal storage disease


Input: No significant association was found between either tumor necrosis factor A or B genotype and parameters for multiple organ failure or liver injury.

tumor necrosis factor

multiple organ failure

tumor necrosis factor

multiple organ failure


Input: The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene.

Lujan syndrome

Lujan syndrome


Input: In the present study, we found that exposure to hypoxic conditions increases the levels of NMBR mRNA and protein in breast cancer cells, which are tightly regulated by hypoxia-inducible factor-1α (HIF-1α).

NMBR

hypoxic


Input: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Developmental Delay

Developmental Delay


Input: According to a zebrafish-based assay, the disease-associated GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations.

VWS

VWS


Input: Three members of the caspase recruitment domain (CARD) family of adaptors (CARD9, CARD10, and CARD11) are known to form heterotrimers with B-cell lymphoma 10 (BCL10) and mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (MALT1).

translocation


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

gastric cancer


Input: Because adrenomedullin had no effects on ANG II-and norepinephrine-induced left ventricular hypertrophy, circulating adrenomedullin appears to act mainly as a regulator of vascular tone and cardiac function.

ANG

ventricular hypertrophy


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

infarction


Input: Our results showed that the production of hydrogen peroxide derived from MnSOD dismutation activated caspase-8, which might down-regulate Bcl-2 expression and induce Bax translocation to mitochondria.

translocation


Input: Association of CARD15 polymorphisms with atopy-related traits in a population-based cohort of Caucasian adults.

atopy


Input: This case report and the results obtained from the literature review support the growing body of evidence that IFN-alpha has a major place in the long-term treatment of HES, especially in those cases resistant to conventional treatment, with cytogenetic abnormalities, or presenting as a myeloproliferative variant of HES.

IFN-alpha

cytogenetic abnormalities


Input: The p24 T242N variant escape from B57/58 CTL had a significant impact on the HIV-1 viral load of CRF01_AE-infected patients.

viral load


Input: Viral replication was measured by viral p24 or viral load quantification.

viral load


Input: We selected primary NMI-BC according to the following criteria: complete resection, primary occurrence of urothelial cell carcinoma, stage cTa or T1, low grade, no carcinoma in situ.

NMI

carcinoma


Input: The majority of dying cells acquired propidium iodide positivity instantly when they became positive for Annexin V, suggesting induction of necrosis.

Annexin V

necrosis


Input: In this study we have shown that IGF2 ApaI and IGF2R Gly1619Arg gene polymorphisms are not associated with male infertility.

male infertility


Input: Specific and complementary roles of genetic factors have been delineated: a common functional length polymorphism in the serotonin transporter gene (5-HTTLPR) moderated the effect of childhood maltreatment on chronic depression in adulthood, but did not substantially influence the effects of adult stressful life events on the onset of new depressive episodes; in contrast, a common functional polymorphism in the brain-derived neurotrophic factor gene (BDNF) moderated the effect of stressful life events in adulthood in triggering new depressive episodes, but did not influence the effects of childhood maltreatment.

chronic depression

chronic depression


Input: Autologous rabbit jugular vein grafts were incubated ex vivo in a solution of adenovirus vectors containing CNP gene (Ad. CNP) or Escherichia coli lac Z gene (Ad. LacZ) and then interposed in the carotid artery.

CNP

adenovirus


Input: We also revealed that the hypoxia-induced overproduction of reactive oxygen species played a crucial role in the inhibition of JAK2V617F through the oxidation and inhibition of SHP-2, a protein tyrosine phosphatase that contains SH-2, which is required for JAK2 activation.

hypoxia


Input: The decreases in mRNA abundance for MDH1 (P = 0. 006), HINT1 (P = 0. 050), and neuroserpin (P = 0. 005) in DLPFC of male individuals with schizophrenia is consistent with prior reports.

schizophrenia

schizophrenia


Input: De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.

FUS gene

sporadic