Input: However, in exploratory analyses that did not adjust for multiple comparisons, sustained male (but not female) quitters with the DRD2 A1 (-) allele and/or the DAT 9R (+) allele showed an accelerated decline in FEV (1) similar to that of continuing smokers over 5 years after quitting smoking.

smoking


Input: We studied the expression of CD56, WT1, estrogen receptor-beta (ER-beta), progesterone receptor (PR), smooth muscle actin, S-100, CD34, and muscle specific actin in 16 normal ovaries, 17 ovarian fibromas, 11 ovarian cellular fibromas, 10 ovarian fibrothecomas, and 11 ovarian leiomyomas.

ER-beta

fibromas


Input: Peripheral blood mononuclear cells, tumor-draining lymph node cells, or tumor-infiltrating lymphocytes were stimulated using mono-nuclear cells from humans with adenocarcinomas of breast or ovary, respectively, using (a) a native MUC1 mucin tandem repeat peptide of 20 amino acids (MUC1-mtr1) plus recombinant human interleukin-2 (IL-2), (b) the mutated (T3N) MUC1-mtr1 plus IL-2, or (c) immobilized anti-CD3 plus IL-2, or (d) IL-2 alone.

mono


Input: In colon cancer, SOCS-1, IGF-2, RUNX3, NEUROG1, and CACNA1G are commonly inactivated.

colon cancer


Input: Beyond its classical role as apoptosis inhibitor, bcl-2 protein promotes tumor angiogenesis and the removal of N-terminal bcl-2 homology (BH4) domain abrogates bcl-2-induced hypoxia-inducible factor 1 (HIF-1)-mediated vascular endothelial growth factor (VEGF) expression in hypoxic cancer cells.

VEGF

hypoxic


Input: The Kaplan-Meier survival curves revealed that decreasing GPR37 expression was associated with poor prognosis in HCC patients, while in vitro, following the release from serum starvation of HuH7 HCC cell, the expression of GPR37 was downregulated.

starvation


Input: Here we examined whether PKD2 expression and activity could also play a role in the release of secretory granules from the trans Golgi network (TGN) in neuroendocrine tumour cells and hence be a target to block autonomous secretion by these tumours.

TGN

neuroendocrine tumour


Input: Interestingly, coexpression of ligase activity-deficient COP1 mutant abrogated Trib1-induced leukemogenesis.

leukemogenesis


Input: These resistant U251 transfectants were susceptible to FADD adenovirus (Adeno-FADD)-induced apoptosis, indicating that a cascade of death signals was blocked at the steps between Fas ligand and FADD.

FADD

adenovirus


Input: In the present study, inhibition of Rac2 by genetic deletion or a small-molecule inhibitor and down-regulation of mitochondrial ROS by disruption of MRC-cIII, expression of mitochondria-targeted catalase, or addition of ROS-scavenging mitochondria-targeted peptide aptamer reduced genomic instability.

genomic instability


Input: A total of 22 patients with endometrial adenocarcinoma and 9 with endometrial hyperplasia (mean age, 56. 0 +/-15. 3 y) underwent (18) F-FES PET for estrogen receptor imaging and (18) F-FDG PET.

FES

endometrial hyperplasia


Input: This suggests the possibility that the presence of VEGF mRNA might be used as a marker for relevant levels of hypoxia.

VEGF

hypoxia


Input: Biological determinants of immune reconstitution in HIV-infected patients receiving antiretroviral therapy: the role of interleukin 7 and interleukin 7 receptor α and microbial translocation.

interleukin 7

translocation


Input: Of the patients not having an identified MECP2 mutation, 8 out of 11 had clinical criteria consistent with variant Rett syndrome and one of these had a balanced translocation involving chromosomes 2p25 and 6p11-12.

translocation


Input: B19 genome DNAs from human fetal organs and fluids and sera from leukemia patients were amplified by the polymerase chain reaction.

leukemia


Input: The effect of GSTM1, GSTT1, GSTP1 and GSTA1 gene polymorphisms on predicting overall and specific cardiovascular outcomes (myocardial infarction, MI or stroke) was analyzed using Cox regression model, and differences in survival were determined by Kaplan-Meier.

regression


Input: Moreover, the purified rAc-AEP was recognized by IgG in serum samples from BALB/c or ICR mice with A. cantonensis infection and patients with eosinophilic meningitis.

AEP

eosinophilic meningitis


Input: We performed this study to test the hypothesis that variation in the lamin a/c gene (LMNA) contributes to milder phenotypes of insulin resistance, hyperandrogenism, and/or metabolic syndrome associated with polycystic ovary syndrome (PCOS).

LMNA

hyperandrogenism


Input: The four novel mutations were: the missense mutations R88P and R88H, associated with severe phenotypes, concerning a position found to be a mutational " hot-spot " for the IDS gene due to a mutation-prone CpG dinucleotide; mutations T1181 and P266H, both in mild patients.

IDS gene

mild


Input: Here, we compared the location of centromeric breaks associated with whole arm translocations in seven adenocarcinoma cell lines and nine squamous cell carcinoma cell lines using SKY, microarray-based comparative genomic hybridization (array CGH) and fluorescence in situ hybridization (FISH).

SKY

squamous cell carcinoma


Input: Taken together, these results suggest that concomitant inheritance of rare variants in FANCA, FANCP/SLX4 and GEN1 on the specific genetic background of this familial case, could lead to increased genomic instability, hematopoietic dysfunction, and higher risk of childhood leukemia.

genomic instability


Input: In addition, TSK/+ mice lacking the IL-4alpha receptor show impaired transcription of the TGF-beta1 gene and did not display fibrosis.

TSK

fibrosis


Input: In conclusion, the present study suggests that the inhibition of pilocarpine-induced seizures may be mediated by stimulation of 5-HT1A and by blockade of 5-HT1B receptors, located probably on the cholinergic terminals.

seizures

seizures


Input: Interphase nuclei containing a translocation that disrupts either SSX1, SSX2, or SSX4 locus will display two single-color signals that have " broken apart " from each other.

translocation


Input: In conclusion, our studies demonstrate that hyperglycemia induces activation of JAK2 and the STATs in vivo via an ANG II-dependent mechanism and that these proteins may be involved in the early kidney damage associated with diabetes.

ANG

kidney damage


Input: Prospectively collected cremaster muscle and/or hernia sac tissues from boys with congenital (79) or acquired (66) nonsyndromic cryptorchidism and hernia/hydrocele (controls, 84) were analyzed for hormone receptor (RXFP2, AR, ESR1, ESR2) and myosin heavy chain specific (MYH1, MYH2, MYH7) mRNA expression using real-time reverse transcriptase polymerase chain reaction.

hydrocele


Input: In this study, 58 coding exons from 20 CORD genes, including 35 exons with previously identified mutations in 17 genes and all 23 coding exons for the other 3 genes (GUCY2D, PRPH2 and KCNV2), were analyzed by cycle sequencing on 130 unrelated probands with CORD.

CORD

CORD


Input: In conclusion, these data suggest that RPN2 is involved in the regulation of lethal cancer phenotypes and represents a promising new target for RNAi-based medicine against NSCLC.

cancer


Input: Indeed, recent evidence suggests that targeting PAR-2 helps reduce joint swelling observed in animal models of arthritis.

PAR

joint swelling


Input: We found that ganglion cell numbers were remarkably reduced while miR-369-3p was significantly upregulated in HSCR tissues compared to that in adjacent normal tissues (P & lt; 0. 01).

HSCR

HSCR


Input: A huge number of studies have ratified the neurotoxic effects of chlorpyrifos (CPF) and suggested its association with neurodegenerative diseases, but data are still scarce.

CPF

neurodegenerative diseases


Input: Pretreatment of cells with resveratrol significantly reduced hypoxia-induced VEGF promoter activities and VEGF expression at both mRNA and protein levels.

VEGF

hypoxia


Input: 14q32/IGH translocation partners were identified in eight cases (BCL2 in five cases, BCL11A, CCND3 and CDK6 in one case each).

translocation


Input: EGFR mutations are more common in non-smoking NSCLC patients.

EGFR

smoking


Input: The promoters for 640 genes were found to be bound by & #946;-catenin, many of which are known schizophrenia (SZ), autism spectrum disorder (ASD), and BD candidates, including CACNA1B, NRNG, SNAP29, FGFR1, PCDH9, and nine others identified in recently published GWASs and genome-wide searches for copy number variants (CNVs).

BD

BD


Input: Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family.

congenital ichthyosis

congenital ichthyosis


Input: No correlation was found between airway hyperresponsiveness (AHR), either with methacholine or AMP, and inflammation in asthmatic patients, regardless of smoking.

AHR

smoking


Input: Deficient DNA mismatch repair (MMR) results in a strong mutator phenotype known as microsatellite instability (MSI), which is a hallmark of Lynch syndrome-associated cancers.

MMR

microsatellite instability


Input: Gene expression analysis revealed that CDK6 mRNA expression is higher than normal cerebellum in fifteen out of sixteen medulloblastoma patient samples.

medulloblastoma

medulloblastoma


Input: To our knowledge, this is just the second patient with late onset EA2 linked to a CACNA1A mutation and the first to carry a loss-of-function missense mutation.


Input: The effect of hypoxia, inflammation, and ER stress on the expression of TWEAK and Fn14 was examined in human adipocyte and macrophage cell lines.

TWEAK

hypoxia


Input: Annexin-V translocation and caspase-3 activation indicated an apoptotic component in ouabain cytoxicity, which was accompanied with reduced Bcl-2 expression and mitochondrial membrane potential.

translocation


Input: Mechanistically, we found that miR-940 promoted GC cell migration, invasion, and metastasis in vivo by directly and functionally repressing the expression of Zinc Finger Transcription Factor 24 (ZNF24).

metastasis


Input: A distinctive pattern of enzyme change was observed, in which the' de novo' pathway enzyme phosphoribosyl pyrophosphate amidotransferase increased sharply between days 10 and 14 of pregnancy, and then remained sensibly constant until the height of lactation, whereas the enzymes of the salvage pathway increased later in pregnancy and continued to rise during lactation.

phosphoribosyl pyrophosphate amidotransferase

height


Input: We analysed 22 formalin-fixed, paraffin-embedded HCC, obtained at surgery, together with the corresponding non-neoplastic liver tissues (19 cases).

HCC

non-neoplastic


Input: The EGFR mutation was significantly associated with adenocarcinoma (p = 0. 006) and light-smoking (p < 0. 0001), but not gender.

EGFR

smoking


Input: Silent brain infarction (SBI), a unique cerebrovascular disorder, is frequently detected on magnetic resonance imaging (MRI) of apparently healthy elderly persons, and it is known to increase the risk of stroke and other related diseases.

MRI

cerebrovascular disorder


Input: EAS is characterized by a lymphocytic infiltration that consists of both CD4 + (helper/inducer T-cell subset) and CD8 + (cytotoxic/suppressor T-cell subset) T cells and results in the immune-mediated destruction of the exocrine salivary glands.

lymphocytic infiltration


Input: After 16 h incubation of NF3, other sets of genes were shown with differential expression in HUVEC, e. g., IL1RAPL2 and NR1H4 in anti-inflammation; miR28 in anti-tumorogenesis; GRIN1 and LCN1 in anti-oxidation; EPB41 in intracellular signal transduction; PRL and TFAP2A in cell proliferation; miR28, PRL and SCG2 in cell migration; PRL in tubular formation; and miR28, NR1H4 and PRL in angiogenesis.

inflammation


Input: However, it is not known whether Egr-1 promotes inflammation in other models of cholestasis.

inflammation

inflammation


Input: Moreover, microsatellite repeats in miRNA genes, such as hsa-miR-1273c, may be novel MSI targets for CRC, and mutations in noncoding regulatory regions of MRE11, BAX (Bax & #916; 2), and HSP110 (HSP110 & #916; E9) may affect the efficiency of chemotherapy.

CRC

CRC


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

diastolic blood pressure


Input: Recent research suggests that it is the channel function of ANO1 that is involved in the tumorigenesis.

tumorigenesis


Input: Transcriptomic analysis revealed SHH-driven tumorigenesis in a subset of MYCN-MBs indicating a biological dichotomy of MYCN-MB.

SHH

tumorigenesis


Input: Whole-exome sequencing led to the identification of APOPT1 mutations in two Italian sisters and in a third Turkish individual presenting severe COX deficiency.

COX deficiency

COX deficiency


Input: FISH analysis detected no copy number gains or translocation of the Bcl-2 gene.

Bcl-2 gene

translocation


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: Here, STAT3 expression, activity and cellular functions were examined in two main histotypes of esophageal carcinomas.

esophageal


Input: Now we report a spectrum of ATP2A2 mutations in 19 families and six sporadic cases with DD and investigate genotype-phenotype correlations.

DD

DD


Input: Cell cycle progression is dependent on the proteasomal degradation of p27, a cyclin-dependent kinase inhibitor and gastric tumor suppressor, following ubiquitination mediated by Skp2.

cyclin-dependent kinase inhibitor

gastric tumor


Input: Although IFN-gamma regulatory role needs further investigation, we provide evidence suggesting that this cytokine, within the tumour microenvironment, could promote HLA-E translocation to the surface of tumour epithelial cells.

HLA-E

translocation


Input: ELA2 has also been investigated as a possible target of the leukemic fusion protein AML1-ETO resulting from the t (8; 21) chromosomal translocation.

chromosomal translocation


Input: During and after pilocarpine-induced status epilepticus, progressive changes of each of CCR7, CCR8, CCR9 and CCR10 proteins occurred in different patterns at various time points.

status epilepticus

status epilepticus


Input: In women, compared to the most common allele, the GpIIIa Pl allele was associated with increased mean arterial pressure (MAP) (P < 0. 05) and pulse pressure (PP) (P < 0. 001), and the LPL 447Ter allele was associated with decreased systolic blood pressure (SBP) and PP levels (0. 001 < or = P < or = 0. 05).

LPL

systolic blood pressure


Input: The results revealed a significant association of rs8049282 SNP on E-cadherin gene with endometriosis-related infertility.

E-cadherin

infertility


Input: Increased levels of MPO, nitrite/nitrate, and MDA in the hyperoxia-exposed rats were significantly reduced by MT (P < 0. 05).

MPO

hyperoxia


Input: p63 is a prosurvival factor in the adult mammary gland during post-lactational involution, affecting PI-MECs and ErbB2 tumorigenesis.

tumorigenesis


Input: Breast cancer resistance protein (BCRP/ABCG2) is currently the only ABC transporter that exports mono-and polyglutamates of folates and methotrexate (MTX).

MTX

mono


Input: We demonstrate that noscapine treatment of human glioma U87MG and T98G cell lines exposed to the hypoxic mimetic agent, CoCl2, inhibits hypoxia-mediated HIF-1alpha expression and transcriptional activity as measured by decreased secretion of VEGF, a HIF-1 target gene.

VEGF

hypoxia


Input: Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.

adult vitelliform macular dystrophy

adult vitelliform macular dystrophy


Input: By flow cytometry we found that a substantial portion of both normal human astrocytes, and U87 and U373 glioma cells express TRPV1 protein.

glioma


Input: None of the ALS or IGFBP3 SNPs were statistically significantly associated with IGF-I levels or mammographic density.

IGF-I

mammographic density


Input: TEL-AML1 (ETV6-RUNX1) is the most common translocation in the childhood leukemias, and is a prenatal mutation in most children.

translocation


Input: BDNF overexpression in YAC128 mice prevented loss and atrophy of striatal neurons and motor dysfunction, normalized expression of the striatal dopamine receptor D2 and enkephalin, and improved procedural learning.

BDNF

motor dysfunction


Input: The aim of this study was to clarify the role of single nucleotide polymorphisms (SNPs) in FTO in metabolic disorders such as hypertension, obesity, diabetes, dyslipidemia, insulin resistance and metabolic syndrome in the Japanese general population using data from a cohort study in Hokkaido, namely the Tanno-Sobetsu study.

FTO

insulin resistance


Input: Significant associations with VDR polymorphisms have been reported in cancer of the breast (Fok1, Bsm1, Taq1, Apa1, poly (A)), prostate (Fok1, Bsm1, Taq1, poly (A)), skin (Fok1, Bsm1, A-1210), colorectum (Fok1, Bsm1), ovary (Fok1, Apa1) and bladder (Fok1), and in renal cell carcinoma (Taq1, Apa1).

renal cell carcinoma


Input: Thus, homozygous mutation of the nNOS gene increases vulnerability to alcohol-induced cerebellar dysfunction and neuronal loss. nNOS is the first gene identified whose mutation worsens alcohol-induced cerebellar behavioral deficits.

nNOS

cerebellar dysfunction

nNOS

cerebellar dysfunction


Input: Serum BDNF concentrations were decreased in PSD patients at 3-6 months after stroke (p < 0. 05).

PSD

stroke


Input: This study implies that CXCR4 molecule is a potential factor controlling the proliferation and metastasis of Mc3 cells.

metastasis


Input: Stable IGFBP7-overexpressing clones were established in the background of AEG-1-overexpressing human HCC cells and were analyzed for in vitro proliferation and senescence and in vivo tumorigenesis and angiogenesis.

tumorigenesis


Input: f-and g-adiponectin both stimulate JNK activation in prostate cancer DU145, PC-3, and LNCaP-FGC cells, hepatocellular carcinoma HepG2 cells, and C2C12 myoblasts.

hepatocellular carcinoma


Input: Moyamoya disease (MMD) is a cerebrovascular disorder characterized by occlusive lesions of the circle of Willis.

MMD

cerebrovascular disorder


Input: To explore whether and how abnormalities in mitochondrial energy metabolism are involved in DS pathogenesis, we investigated the catalytic properties, gene expression and protein levels of certain proteins involved in mitochondrial ATP synthesis, such as F1F0-ATPase, ANT (adenine nucleotide translocator) and AK (adenylate kinase), in DS-HSF (human skin fibroblasts with trisomic karyotype), comparing them with euploid fibroblasts.

ANT

abnormalities


Input: rs7806429 was associated with mRNA expression of RARRES2 in visceral adipose tissue in women (p < 0. 05 after adjusting for age and body mass index).

body mass index


Input: Previously, we induced muscle-specific overexpression of Akt, a regulator of cellular metabolism and survival, in mdx mice at pre-necrotic (< 3. 5 weeks) ages and demonstrated upregulation of the utrophin-glycoprotein complex and protection against contractile-induced stress.

utrophin

necrotic


Input: In the current study, we report that exposure to a chronic oxidative stress in the form of a high-fat diet greatly accelerates the development of obesity in neil1 (-/-) mice.

obesity

obesity


Input: In this study, we searched for CHEK2 mutations in young, high-risk breast cancer patients in China and detected a missense variant Y390C (1169A & gt; G) in 12 of 150 patients (8. 0%) and 2 in 250 healthy controls (0. 8%, P = 0. 0002).

breast cancer

breast cancer


Input: Cleavage of microtubule-associated protein-light chain 3 (LC3), an essential step in autophagosome formation, was detected in human malignant glioma cells exposed to 17alpha-AED.

malignant glioma


Input: We believe that the cardiac hypertrophy is ACTH-induced.

ACTH

cardiac hypertrophy

ACTH

cardiac hypertrophy


Input: To determine whether genetic variation in these genes plays a role in sporadic PD, we performed a genetic association study in a screening sample of 340 PD patients and 680 controls and a large replication sample of 669 PD patients and 669 controls using 54 single nucleotide polymorphisms in and around the Engrailed 1/2, PITX3, LMX1B and OTX2 genes.

sporadic


Input: Interaction between CD3EAP rs967591 and smoking duration was observed (P = 0. 003).

smoking


Input: In order to investigate whether the HMGA1 detection might have a prognostic role also for inherited breast carcinomas we have analysed the expression of the HMGA1 proteins in 116 breast familial carcinomas associated with BRCA1 or BRCA2 or negative for mutations in both genes (BRCAX).

BRCAX

carcinomas


Input: Twenty-six metastasis candidate proteins, which were identified by on-line LC-ESI-MS/MS, such as S100 calcium-binding protein A4 (S100A4), annexin 1, etc., might have much application in diagnostic procedures and prognosis evaluation.

ESI

metastasis


Input: We further found that down-regulation of MMP14 in gliomas by combinational treatment with CRAd-S-5/3 and Marimastat, a chemical inhibitor of metalloproteinases, augments suppression of pro-angiogenic factors, caused by the replication-competent adenovirus.

adenovirus


Input: Among eight affected persons who had peripheral blood or bone marrow karyotype analysis, two carried the same chromosome abnormality, a pericentric inversion of chromosome 10, inv (10) (p11. 2q21. 2).

chromosome abnormality


Input: As part of the National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP), we used an extreme phenotype study design to discover that variants in DCTN4, encoding a dynactin protein, are associated with time to first P. aeruginosa airway infection, chronic P. aeruginosa infection and mucoid P. aeruginosa in individuals with cystic fibrosis.

cystic fibrosis

cystic fibrosis


Input: Because hypoxia and VEGF regulate matrix metalloproteinases (MMPs), their effects on PEDF proteolysis were explored.

VEGF

hypoxia


Input: A case of respiratory depression in a child with ultrarapid CYP2D6 metabolism after tramadol.

respiratory depression


Input: On the other hand, FISH analysis revealed 11 (84. 6%) of 13 cases with positive signals for BCL2 translocation.

translocation


Input: Hypoxia (low oxygen supply) aids tumor metastasis in part by promoting EMT in cancer cells.

EMT

aids


Input: There was no appreciable association between the G-protein beta3-subunit C825T polymorphism and erythrocyte Na +/Li + CT and other sodium transport systems in the hypertensive patient sample studied; however, those with the T allele were more obese and had more severe systolic hypertension.

systolic hypertension


Input: These results suggest that transduction of SCCA2 promoter-controlled suicide genes by adenoviral vectors can confer transcriptionally targeted cytotoxicity in SCCA2-producing lung SCC cells, and represents a novel strategy for gene transfer specifically targeted to SCC in the lung.

suicide


Input: According to immunohistochemical staining results of cytokeratin 5/6, EGFR, claudin 3, claudin 4, claudin 7, E-cadherin, STAT-1, androgen receptor, and GGT-1, metaplastic carcinoma and TNBC were sub-classified into six subtypes: basal-like type, molecular apocrine type, claudin-low type, immune-related type, mixed type, and null type.

androgen receptor

metaplastic carcinoma


Input: A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.

woolly hair

woolly hair


Input: Analysis of adhesion-related gene expression revealed a complex set of alterations in p63-depleted cells, with both increased and decreased adhesion molecules and adhesion substrates compared to parental cells expressing p63.

adhesion


Input: We report the phenotypic characteristics and natural history of 4 adults with severe, progressive OI characterized by numerous fractures, short stature with rhizomelic shortening, and deformity of the limbs and variable kyphoscoliosis, in whom we identified novel biallelic missense and frameshift mutations in BMP1.

kyphoscoliosis


Input: Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.

Wilson disease

Wilson disease


Input: Impaired phosphorylation and insulin-stimulated translocation to the plasma membrane of protein kinase B/Akt in adipocytes from Type II diabetic subjects.

protein kinase B

translocation


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

ciliary-neurotrophic-factor

depression

ciliary-neurotrophic-factor

depression


Input: Propranolol ameliorated the retinopathy score, restored occludin and albumin, and reduced hypoxia-induced plasma extravasation without influencing the vascular permeability induced by intravitreal VEGF.

VEGF

hypoxia


Input: RESULTS: We found that patients with vitiligo with the ERCC1 codon 118 CC genotype showed better efficacy after NB-UVB irradiation than those with the ERCC1 118 TT and CT genotypes, whereas no such association was documented among the genotypes of XPA A23G, XPC Ci11A or XPC C2919A.

XPA

vitiligo


Input: Genetic loss of SH2B3 in acute lymphoblastic leukemia.

acute lymphoblastic leukemia

acute lymphoblastic leukemia


Input: Our findings suggest that 16p11. 2 deletions are associated with abnormalities of renal and enteric development and we hypothesize that deletion of SH2B1 may account for the observed phenotype.

abnormalities


Input: We could find two asymptomatic MEN2A gene carriers who had no symptoms or signs of MEN 2A by DNA analysis of the RET proto-oncogene.

RET proto-oncogene

asymptomatic


Input: Dysfunctioning of corticotropin-releasing factor (CRF) and its receptors (CRF (1) and CRF (2)) has been linked to the development of stress-related disorders, such as affective disorders and drug abuse.

CRF (2

affective disorders

CRF (2

affective disorders


Input: These amplified and persistent redox signals in PC3 cells leads to maintenance of Src oxidation and activation in the absence of adhesion, thereby sustaining a ligand-independent phosphorylation of epidermal growth factor receptor.

epidermal growth factor receptor

adhesion


Input: The analyses also showed that degree of steatosis, HOMA-IR > 2, mild fibrosis and IL28B CC genotype were significantly related to SVR in patients infected with HCV genotypes 1 & 4, but not in those with genotypes 2 & 3.

mild


Input: Prevalence of COCH mutations worldwide is unknown, as there is no systematic screening effort for late-onset hearing disorders; however, to date, COCH mutations have been found on four continents and the possibility of COCH playing an important role in presbycusis and disorders of imbalance has been considered.

COCH

presbycusis


Input: Sonic hedgehog in gastric physiology and neoplastic transformation: friend or foe?

Sonic hedgehog

neoplastic transformation


Input: In human glioma spheroids and xenograft tumours, regions of severe hypoxia do not correspond to areas of up-regulated VEGF expression; in fact, VEGF expression is quite uniform.

VEGF

hypoxia


Input: In this case the IgH locus and the bcl-2 gene are found in the order 3' C gamma S gamma/mu JH 5':: 5' bcl-2 3' (where C = constant, S = switch, and JH = joining segment of the heavy chain locus), suggesting that an inversion also occurred during the translocation process.

translocation


Input: Viral vector-mediated inhibition of one of the CREB-target genes regulated by chr-ECS, Fzd6, produced anxiety and depressive-like effects in behavioral models of depression.

anxiety


Input: We have evaluated single nucleotide polymorphisms (SNPs) in the FBXO11 gene for association with chronic otitis media with effusion/recurrent otitis media (COME/ROM).

FBXO11 gene

recurrent otitis media


Input: In the present study, we found that the chemotherapy-sensitive ovarian tumor sections showed strong staining for heterochromatin protein 1-γ (HP1-γ), but weak staining for GRP78.

ovarian tumor


Input: Virions bearing MR1-1-modified gC had fivefold increased infectivity for EGFRvIII-bearing human glioma U87 cells compared to mutant receptor-deficient cells.

glioma


Input: Clinical trials are revealing aspects of HPP pathophysiology not yet fully understood, such as craniosynostosis and muscle weakness when HPP is severe.

HPP

muscle weakness


Input: PS-341 (VELCADE, bortezomib), a proteasome inhibitor used to treat human cancer, increases the levels of both HIF-2alpha and c-Myc and elevates the level of DR5 in renal cancer, sensitizing renal cancer cells to TRAIL therapy.

renal cancer


Input: ETV1, which is mutated in prostate cancer more often, was degraded after being ubiquitinated by COP1.

prostate cancer


Input: HCT-116 colon cancer cells were treated with CPT, OXP, and IL-6 separately or in combination in a time and dose-dependent manner and examined for phosphorylated and non-phosphorylated RKIP and STAT3 via Western blot analysis.

RKIP

colon cancer


Input: Statistical analysis revealed significant associations between expression of either Cyr61 or CTGF with tumor stage, tumor histology, metastasis, smoking, and family history at diagnosis.

CTGF

smoking


Input: Here we found that obese and overweight but not normal weight FTO A allele carriers showed a lower performance on verbal fluency than non-carriers (homozygous for rs9939609 T allele).

FTO

overweight


Input: Our approach to the classification of cell' s likelihood to metastasize is based on screening for levels of expression of specific proteomic biomarkers associated with breast cancer stem cells.

cell' s

metastasize


Input: The standard BCL2 translocation was found in three samples, one obtained at diagnosis, one ten months later, and one after 5 years.

translocation


Input: The secretion of VEGF by endometrial cells under hypoxic conditions may also be important in the pathogenesis of endometriosis, because it would be predicted to assist revascularization of desquamated endometrial explants when they attach at ectopic sites.

VEGF

hypoxic


Input: In addition to its role in inhibiting tumor adhesion and invasion, TIMP3 induced the apoptosis and inhibited the growth of jeg-3 and bewo choriocarcinoma cells.

adhesion


Input: Besides, pre-incubation with p38 mitogen-activated protein kinases (MAPK) inhibitor SB203580, C-Jun NH2-terminal protein kinases (JNK) inhibitor SP600125 and proteosome inhibitor MG-132 could significantly restrain the effects of IL-25 on surface expression of L-selectin, ICAM-1 and ICAM-3, respectively, and also on the adhesion of eosinophils onto fibronectin (all P < 0. 05).

C-Jun

adhesion


Input: Strikingly, highest VEGFA levels were demonstrated in AML blasts containing a t (8; 21) translocation, which involves the AML1/RUNX1 protein (AML1/ETO).

translocation


Input: The results indicated that immature and mature keratin pearls in CIS and SCC were generated by oxidative stresses derived from erythro-hemophagocytosis, which might mediate HO-1 expression and be regulated by PAR-2.

PAR

hemophagocytosis


Input: Interestingly, the three-way translocation, including ETV6-RUNX1, was detected in five patients.

translocation


Input: Hence, Slc4a10 is a promising pharmacological target for the therapy of epilepsy or elevated intracranial pressure.

elevated intracranial pressure

elevated intracranial pressure


Input: We describe the beta-galactosidase expression in wild-type L17 mice and demonstrate the applicability of L17 mice to the study of the nervous system.

nervous system


Input: These results suggest that MRG has tumor-suppressing activity, and the loss of MRG expression may be involved in the development and progression of breast cancer.

MRG

tumor


Input: VDR was not independently associated with body mass index, family history of colorectal cancer, tumor location (colon versus rectum), stage, tumor grade, signet ring cells, CIMP, MSI, LINE-1 hypomethylation, BRAF, p53, p21, beta-catenin, or cyclooxygenase-2.

beta-catenin

body mass index


Input: From this case, a lymphangiosarcoma cell line, MO-LAS, was established and its characteristics were compared with the hemangiosarcoma cell line, ISO-HAS.

LAS

hemangiosarcoma


Input: Thus, at-HMGB1 activation through RAGE may be responsible for sensory neuron sensitization and mechanical hyperalgesia associated with chronic neuropathic pain states.

RAGE

mechanical hyperalgesia

RAGE

mechanical hyperalgesia


Input: Short-term gefitinib treatment brought about a long-term regression of bronchioloalveolar carcinoma without EGFR gene alterations: a case report.

EGFR gene

regression


Input: GRPR-KO mice were found to present with increased depression-like behavior.

GRPR

depression

GRPR

depression


Input: Mutations in the ABCC6 gene cause soft-tissue calcification in pseudoxanthoma elasticum (PXE) and, in some patients, generalized arterial calcification of infancy (GACI).

ABCC6 gene

generalized arterial calcification


Input: Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) is a dominant progressive disorder that maps to chromosome 9p21. 1-p12.

frontotemporal dementia


Input: In non-neoplastic inflammation, such as gastritis, NOVA1 was highly enriched in T lymphocytes and stromal spindle cells, while expression of this protein was frequently decreased in those types of cells within gastric cancer tissues.

gastritis


Input: Nevertheless, DJ-1 possesses neither an amino-terminal alpha-helix nor a predictable matrix-targeting signal, and a post-translocation processing-derived molecular weight change is not observed.

translocation


Input: The expression of COX-2 and VEGF was determined in the RCC cell lines A498 and Caki-1 under short-term hypoxia and in multicellular tumour cell aggregates.

VEGF

hypoxia


Input: In the final model, the only significant variables selected for smoking were OGG1, SLC6A4, EPHX1, ESR1, and CYP17A1, and for drinking, ALDH2 and NUDT1.

smoking


Input: Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.

schizophrenia

schizophrenia


Input: KCNJ5-mutated APAs were composed mainly of zona fasciculata-like cells with high expression of CYP11B1, while ATP1A1, ATP2B3 and CACNA1D-mutated APAs presented more frequently a zona-glomerulosa-like phenotype with high expression of CYP11B2.

zona


Input: Series of esophageal carcinomas (34 cases) and gastric carcinomas (25 cases) were examined for CpG methylation in p16/INK4 using methylation-specific PCR (MSP).

MSP

esophageal


Input: Aberrant methylation of Reprimo in human malignancies.

Reprimo

malignancies


Input: Sonic Hedgehog (SHH) is a regulator in tumorigenesis of hepatocellular carcinoma (HCC).

SHH

tumorigenesis


Input: In addition, the enhancement of both OCT4 and SOX2 expression by the α subunit of hypoxia-inducible factors (HIF1α and HIF2α) was required for hypoxia-induced CD133 expression.

hypoxia


Input: The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept.

LTA

early rheumatoid arthritis


Input: In conclusion, we provide the first genetic evidence that the GR gene can modulate cocaine abuse.

GR

cocaine abuse

GR

cocaine abuse


Input: In the present study, the expression levels of stathmin and EF1α in relation to telomere length, telomere dysfunction-induced foci (TIF), γ-H2AX, and p21WAF1/CIP1 expression were assessed in specimens of hepatitis B virus (HBV)-related multistep hepatocarcinogenesis, including 13 liver cirrhosis specimens, 14 low-grade dysplastic nodules (DN), 17 high-grade DNs, and 14 hepatocellular carcinomas (HCC).

hepatocarcinogenesis


Input: We report on a novel heterozygous mutation of UBIAD1, G98S, in two patients with SCCD.

SCCD

SCCD


Input: Analysis of both reciprocal junctions for a translocation in the mcr region of bcl-2, showed that this 18q-junction also consisted of DH fused to a bcl-2 sequence.

translocation


Input: We report on the roles of cdc27 and securin in aneuploidy and prognosis of breast cancer.

securin

aneuploidy


Input: Recent studies demonstrate that the neuropeptide VGF (nonacronymic) is regulated in the hippocampus by antidepressant therapies and animal models of depression and that acute VGF treatment has antidepressant-like activity in animal paradigms.

VGF

depression

VGF

depression


Input: The workshop also highlighted how plasmacytic differentiation can occur in chronic lymphocytic leukemia/small lymphocytic lymphoma, follicular lymphoma, SOX11 negative MCL, and particularly in marginal zone lymphomas, all of which can cause diagnostic confusion with LPL.

confusion


Input: Drusenlike deposits were more selectively observed in carriers with mutations in the AIPL1, CRB1, RPE65, and RPGRIP1 genes, whereas mild peripheral chorioretinal atrophy was only observed in AIPL1 and RPE65 carriers.

chorioretinal atrophy


Input: Here we sought to investigate the role of miR-223-RhoB signaling pathway in proliferation of colon cancer.

colon cancer

colon cancer


Input: Glioma cell line U87-MG, three cell lines from human glioblastoma grade IV (glioma-derived mesenchymal stem cells) and three bmMSCs were selected for the experiment.

glioma


Input: The 208delG (c. 72delG, p. Thr25GlnfsX120) mutation in the FSCN2 gene was reported to cause autosomal dominant retinitis pigmentosa (ADRP) and autosomal dominant macular degeneration (ADMD).

ADRP

macular degeneration


Input: The G (-173) A polymorphism of SCNN1G had a significant effect on systolic pressure (P = 0. 0050) and pulse pressure (P = 0. 0050).

systolic pressure


Input: We propose that 3O-C (12)-HSL induction of Cox-2, membrane-associated PGE synthase, and PGE (2) likely contributes to the inflammation and lung pathology induced by P. aeruginosa infections in the lung.

HSL

inflammation


Input: Vascular endothelial cell growth factor A (VEGF-A) and hypoxia play important roles in tumor angiogenesis.

VEGF-A

hypoxia


Input: Quantitation of thyroid-stimulating hormone receptor mRNA with real-time PCR for early diagnosis of papillary thyroid microcarcinoma.

hormone receptor

papillary thyroid microcarcinoma


Input: Considering the involvement of IL-6 in Castleman' s disease we treated the patient with thalidomide obtaining the remission of the nephrotic syndrome.

Castleman' s disease

Castleman' s disease


Input: Activation of the sonic hedgehog (Shh) signaling pathway controls tumorigenesis in a variety of cancers.

sonic hedgehog

tumorigenesis


Input: These findings suggest that downregulation of SAT1 expression may play a role in depression and suicidality, possibly by impeding the normal PSR program or through compensation for the increased polyamine metabolism accompanying the psychological distress associated with depressive disorders.

PSR

depression


Input: We report that biallelic mutations in TBCD, encoding one of the five co-chaperones required for assembly and disassembly of the & #945; & #946;-tubulin heterodimer, the structural unit of microtubules, cause a disease with neurodevelopmental and neurodegenerative features characterized by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin corpus callosum, developmental delay, intellectual disability, seizures, optic atrophy, and spastic quadriplegia.

TBCD

spastic quadriplegia

TBCD

spastic quadriplegia


Input: Changes in BP, body weight, total body fat-mass, waist-to-hip ratio, plasma norepinephrine (NE) and leptin levels, and beta2 (Arg16Gly)-and beta3 (Trp64Arg)-adrenoceptor polymorphisms were measured periodically over a 5-year period in 55 entry obese (body mass index [BMI] > or = 25. 0 kg/m (2)) normotensive (BP < 140/90 mmHg) men.

body mass index


Input: Functional assays were performed with adenovirus-mediated expression of DUSP6 in glioblastoma cultures.

glioblastoma

glioblastoma


Input: These findings suggest that increased genomic instability in malignant melanoma is associated with elevated protein levels of this DNA repair enzyme.

DNA repair enzyme

genomic instability


Input: In moderately differentiated (G2) colon carcinomas, reduction of DPD and Per1 mRNA levels did not reach significance, but a significant correlation between the respective mRNA levels was detectable (r = 0. 54; P < 0. 05).

carcinomas


Input: These results suggest GATA-3 and Txk might be involved in skin lesions, while SOCS-3 might be associated with an imbalance of cytokines that is difficult to normalize in atopic dermatitis.

skin lesions


Input: Overexpression of human erythropoietin (EPO) affects plant morphologies: retarded vegetative growth in tobacco and male sterility in tobacco and Arabidopsis.

EPO

male sterility


Input: This was associated with increases in the expression of cyclins A and E. Furthermore, LGMN expression was increased in hepatocellular carcinoma cells relative to normal hepatocytes in the same specimens.

LGMN

hepatocellular carcinoma


Input: Lower expressions of BORIS were found in head and neck, breast, kidney, bladder, testicular and prostate carcinoma cell lines.

BORIS

prostate carcinoma


Input: Epilepsy has been never reported so far in literature as a possible feature of Stickler syndrome, although neurological presentations, including epilepsy and brain abnormalities, have been occasionally described in other COL2A1-related phenotypes (e. g., Legg-Calvè-Perthes disease).

abnormalities


Input: In this latter scenario, the sebaceous tumours can present microsatellite instability (MSI) and loss of mismatch repair (MMR) proteins, characteristic of hereditary syndromes, even in the absence of MMR germline mutations.

MMR

microsatellite instability


Input: We have found that EPO treatment substantially reduces the acute clinical paralysis seen in EAE mice and this improvement is accompanied by a large reduction in the mononuclear cell infiltration and downregulation of glial MHC class II expression within the inflamed CNS.

EPO

paralysis


Input: Furthermore, decreases in TER occurred in conjunction with cytoskeletal rearrangement, suggesting a direct mechanism for viral infection-mediated endothelial barrier disruption.

TER

viral infection


Input: We determined, microsatellite instability (MSI) as a marker for MMR inactivation (analysis of BAT25 and BAT26), MLH1 promoter methylation status (methylation specific PCR on bisulfite treated DNA) and mRNA expression of MLH1, MSH2, MSH3, MSH6 and PMS2 (quantitative RT-PCR) in 75 ovarian carcinomas and eight ovarian cancer cell lines MSI was detected in three of the eight cell lines i. e.

MMR

microsatellite instability


Input: Dysfunction of MMR genes leads to loss of MMR protein expression and to microsatellite instability (MSI).

MMR

microsatellite instability


Input: Immunofluorescence showed that heparanase and VEGF staining was intense in hypoxia-treated HRECs and OIR mice retina, while VEGF staining was faint in the normoxia and PI-88-treated ones.

VEGF

hypoxia


Input: Absence of CYP1A2 resulted in significant splenic atrophy at PND13 and PND28.

splenic atrophy


Input: Plasma beta-endorphin levels were elevated in dogs with congestive heart failure.

beta-endorphin

congestive heart failure

beta-endorphin

congestive heart failure


Input: Bcl-xL mRNA and protein could be readily detected in mesothelioma cell lines, whereas only low levels of Bcl-2 mRNA and protein were found.

Bcl-xL

mesothelioma


Input: We recently found that AD subjects homozygous for long alleles (l) of an insertion/deletion polymorphism in the promoter region of the serotonin transporter (5-HTTPR) had elevated rates of aggressive behavior.

serotonin transporter

aggressive behavior


Input: Hdac3-Tg mice did not develop cardiac hypertrophy at 3 months of age, unlike previously reported Hdac2-Tg mice.

cardiac hypertrophy

cardiac hypertrophy


Input: Use of WSLP to deliver hypoxia-responsive driven expression of hVEGF to ischemic rabbit myocardium has proven to provide for even better expression in cardiovascular cells than Terplex and has demonstrated a significant reduction in infarct size (13 +/-4%, p < 0. 001) over constitutive VEGF expression (32 +/-7%, p = 0. 007) and sham-injected controls (48 +/-7%).

VEGF

infarct


Input: Our findings indicate that STAG2 is a new UBC tumor suppressor acting through mechanisms that are different from its role in preventing aneuploidy.

UBC

aneuploidy


Input: Immunization of B10. PL mice with a recombinant adenovirus expressing the TCR Vbeta8. 2 chain (Ad5E1 mVbeta8. 2), resulted in induction of regulatory type 1 CD4 T cells, directed against the framework region 3 determinant within the B5 peptide (aa 76-101) of the Vbeta8. 2 chain.

adenovirus


Input: Fewer days of neutropenia were noted after 5-FU plus IL-1 beta than after 5-FU alone; however, this difference did not reach statistical significance.

IL-1 beta

neutropenia

IL-1 beta

neutropenia


Input: In the absence of p53, PTTG causes aneuploidy.

PTTG

aneuploidy


Input: Paradoxically, increased P450scc induction in rats experiencing SE for 180 min or more was associated with the delayed onset of spontaneous recurrent seizures.

seizures

seizures


Input: Here we show that, in the seizure-sensitive (SS) gerbil hippocampus, a recognized genetic epilepsy model, the expressions of both P2X2 and P2X4 receptors are markedly decreased as compared with that in the seizure-resistant (SR) gerbil.

epilepsy

epilepsy


Input: RT-PCR products with the predicted size and sequence of PTI-1 are detected in RNAs from cell lines of human prostate, breast, and colon carcinomas.

PTI

carcinomas


Input: We aimed to evaluate the role of defects in the DNA mismatch repair (MMR) mechanism and microsatellite instability (MSI) in relation to the most frequent genetic anomaly, translocation t (11; 18) (q21; q21), in gastric mucosa-associated lymphoid tissue (MALT) lymphoma.

MMR

microsatellite instability


Input: These findings have implications for the role of p63 in both development and tumorigenesis.

tumorigenesis


Input: To further examine NT stimulation of c-Yes in melanoma cells, three additional cell lines were examined.

c-Yes

melanoma


Input: Mutation of hnRNP A1-binding sites prevented hypoxia-induced skipping of SMN exon 7 and was found to bind both hnRNP A1 and Sam68.

SMN

hypoxia


Input: AID and GANP, both appearing in antigen-driven B cells, are involved in affinity maturation of the immunoglobulin V-region with increased somatic mutation.

GANP

somatic mutation


Input: A PLD2-specific inhibitor and siRNA directed against PLD2 were used to treat HT29 and HCT116 colorectal cancer cells, and both inhibition and genetic knockdown of PLD2 in these cells significantly induced autophagy, as demonstrated by the visualization of light chain 3 (LC3) puncta and autophagic vacuoles as well as by determining the LC3-II protein level.

autophagic vacuoles


Input: Together, these findings provide new insight into the underlying molecular mechanisms of depression and antidepressant action, and support the antidepressant potential of HDAC inhibitors and perhaps other agents that act at the level of chromatin structure.

HDAC

depression

HDAC

depression


Input: We evaluated the effect of moderate alcohol consumption, the CETP gene polymorphism and clinical variables on HDL cholesterol and other lipoprotein parameters in insulin-dependent diabetic (IDDM) men.

CETP gene

alcohol consumption


Input: Therefore, recombinant CL1 shows excellent potential for the development of the first standardized assay for the sensitive and specific diagnosis of human fascioliasis.

fascioliasis


Input: Relevance of BCAR4 in tamoxifen resistance and tumour aggressiveness of human breast cancer.

breast cancer

breast cancer


Input: CONCLUSION: Under hypoxia, NPFs contribute to NP propagation by expressing Cyr61, which subsequently stimulates VEGF and IL-8 production, leading to angiogenesis and activating neutrophil infiltration in NPs.

VEGF

hypoxia


Input: By RT-PCR, AFP and PSA mRNA were detected in several tumors, including salivary pleomorphic adenoma, hilar bile duct carcinoma, pancreatic carcinoma, transitional cell carcinoma of urinary bladder and thyroid papillary carcinoma.

PSA

pleomorphic adenoma


Input: By transfection, these sequences have been expressed in insect cells and developed into serological assays, revealing HERV-K10 antibodies in patients with testicular cancer.

testicular cancer


Input: We discuss the potential structural and functional significance of this mutation pattern within the context of the complex relationship between the PXE phenotype and the function of ABCC6.

PXE

PXE


Input: Bone-destructive disease treatments include bisphosphonates and antibodies against the osteoclast differentiator, RANKL (aRANKL); however, osteonecrosis of the jaw (ONJ) is a frequent side-effect.

RANKL

osteonecrosis


Input: In vitro experiments using human pulmonary smooth muscle cells showed that hypoxic stress increased the proliferation and migration of cells in a Pyk2-dependent manner.

hypoxic


Input: Various classes of proteins were found either to be present or to be upregulated in keloid tissue: (i) inflammatory/differentiated keratinocyte markers: S100 proteins, peroxiredoxin I; (ii) wound healing proteins: gelsolin-like capping protein; (iii) fibrogenetic proteins: mast cell & #946;-tryptase, macrophage migration inhibitory factor (MIF); (iv) antifibrotic proteins: asporin; (v) tumour suppressor proteins: stratifin, galectin-1, maspin; and (vi) antiangiogenic proteins: pigment epithelium-derived factor.

asporin

keloid

asporin

keloid


Input: The aim of this study was to determine the expression of neurotrophic factors (nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), ciliary neurotrophic factor (CNTF), and neurotrophin (NT)-3, NT-4/5) in pterygeal tissue and to confirm whether tumor-necrosis factor-alpha (TNF-alpha) modulates the expression of these neurotrophic factors in primary cultured pterygeal fibroblasts.

BDNF

necrosis


Input: When injected intravenously, PACAP induced a significant, concentration-dependent vascular response (ie, flush, erythema, edema) and mediated a significant and concentration-dependent increase in intrarectal body temperature that peaked at 2. 7 ° C.

PACAP

erythema


Input: The expression of the RUNX3 and β-catenin proteins was evaluated by immunohistochemistry in 23 normal colorectal mucosa (NCM), 81 sporadic colorectal tubular adenomas with different dysplasias (SCTA-D) (mild n = 33, moderate n = 23, and severe n = 25 dysplasia), and 48 sporadic colorectal tubular adenomas with cancerous changes (SCTA-Ca).

mild


Input: Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene.

Aromatase deficiency

Aromatase deficiency


Input: We successfully constructed a stable U87 glioma cell line, U87-K5-Egr1-NIS.

glioma


Input: Miliary never-smoking adenocarcinoma of the lung: strong association with epidermal growth factor receptor exon 19 deletion.

epidermal growth factor receptor

smoking


Input: Classical galactosemia is an autosomal recessive inborn error of metabolism due to mutations of the GALT gene leading to toxic accumulation of galactose and derived metabolites.

GALT

Classical galactosemia

GALT

Classical galactosemia


Input: Functional assays using ex vivo liver tissue sections demonstrate that Klf11-/-mice display increased insulin sensitivity.

insulin sensitivity


Input: Furthermore, CHGB and SLC2A11 may be significant in PRL tumor progression and serve as molecular biomarkers for PRL tumors.

CHGB

tumor progression


Input: HBx increases the protein stability of Gli proteins, which are key transcription factors of the Hedgehog signaling pathway, and nucleus translocation of Gli1 through direct protein interaction of HBx and Gli1.

translocation


Input: NGAL overexpression may promote the tumorigenesis and progression of CRC.

NGAL

tumorigenesis


Input: The JAK2 (V617F) mutation load in hetero-/homozygous PV and EMGM is clearly related to MPN disease burden in terms of splenomegaly, constitutional symptoms and fibrosis.

fibrosis


Input: MYC rearrangement, a characteristic cytogenetic abnormality of Burkitt lymphoma and several subsets of other mature B-cell neoplasms, typically involves an immunoglobulin gene partner.

MYC

cytogenetic abnormality


Input: The findings provide additional support for a common effect of genes coding for cell adhesion molecules (e. g., CDH13, ASTN2) and regulators of synaptic plasticity (e. g., CTNNA2, KALRN) despite the complex multifactorial etiologies of adult ADHD and addiction vulnerability.

KALRN

addiction


Input: To better define the neuropathology associated with FUS mutations, we have undertaken a detailed comparative analysis of six cases of ALS-FUS that include sporadic and familial cases, with both juvenile and adult onset, and with four different FUS mutations.

FUS

sporadic


Input: We examined NFKBIA expression, mutations in the EGFR and K-ras genes, and EML4-ALK fusion in 101 resected lung adenocarcinoma samples from never-smokers.

NFKBIA

lung adenocarcinoma


Input: Here we studied the expression of NKR (i. e., NKG2C, NKG2A, LILRB1, CD161) and the frequency of the NKG2C gene deletion in children with past congenital infection, both symptomatic (n = 15) and asymptomatic (n = 11), including as controls children with postnatal infection (n = 11) and noninfected (n = 20).

asymptomatic


Input: A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.

keratin 10

annular epidermolytic ichthyosis

keratin 10

annular epidermolytic ichthyosis


Input: Thyroid carcinoma cell lines of different histogenetic background display profoundly different patterns of IRM expression that appear to correlate with tumor aggressiveness.

IRM

aggressiveness


Input: In multiple members of the well-studied KE family, a heterozygous missense mutation in FOXP2 causes problems in sequencing muscle movements required for articulating speech (developmental verbal dyspraxia), accompanied by wider deficits in linguistic and grammatical processing.

developmental verbal dyspraxia

developmental verbal dyspraxia


Input: The translocation-Ets-leukaemia (TEL) and AML1 genes are very often involved in chromosomal translocations in haematopoietic malignancies.

translocation


Input: LGI1 mutations were found in two of four ADPEAF families, but in none of the other 50 families nor in the 21 individuals with sporadic TLE.

sporadic


Input: We showed that GSTM1 deficiency was not involved in smoking-induced vascular diseases, but p53 polymorphisms tended to modify the disease severity in smokers.

vascular diseases


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


Input: This study emphasizes the role of ADAMTS13 mutations in the pathogenesis of congenital TTP and suggests that several structural domains of this metalloprotease are involved in both its biogenesis and its substrate recognition process.

congenital TTP

congenital TTP


Input: Two complementary genetic approaches were used: 1) linkage analyses between obesity and polymorphic markers located nearby NPY and rNPY-Y1/-Y5 genes (respectively on chromosomes 7p15. 1 and 4q [31. 3-32]) in 93 French Caucasian morbidly obese families; 2) single strand conformation polymorphism (SSCP) scanning of the coding region of the NPY and rNPY-Y1 genes performed in 50 unrelated obese patients ascertained on the basis of a body mass index of 27 kg/m2 or more and a family history of obesity.

NPY

body mass index


Input: By inhibiting AKT and human kinase interacting stathmin (hKIS), trastuzumab blocks Thr157-, Thr198-and Ser10-induced p27Kip1 translocation from the nucleus to the cytosol, which increases the inhibitory effect of p27Kip1.

AKT

translocation


Input: We conclude that subtle variants that are central in functionally important domains of POLR2A cause a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay through a dominant-negative effect on pol-II-mediated transcription of DNA.

developmental delay

developmental delay


Input: A significant correlation was found between CAV-1 mRNA expression levels in VAT and different circulating inflammatory markers such as sialic acid (SA) (P < 0. 001) and fibrinogen (P < 0. 001) as well as with MCP1 mRNA expression (P < 0. 05).

CAV

fibrinogen


Input: 311, 629-634] have recently described a family in which hyperproinsulinemia is inherited in an autosomal dominant pattern, suggesting a structural abnormality in the proinsulin molecule as the basis for this disorder.

proinsulin

hyperproinsulinemia

proinsulin

hyperproinsulinemia


Input: Moreover, using a RNA ligase-dead mutant, we determine that the ligase activity of worm RTCB-1 is required for its neuroprotective role, which, in turn, is mediated through XBP-1 in the UPR pathway.

RTCB

worm


Input: Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia.

ceruloplasmin

Menkes disease

ceruloplasmin

Menkes disease


Input: However, the mechanism by which these mutations induce cytotoxicity is unclear since the GPI-SP is replaced by a GPI anchor within 5 min of PrP synthesis and translocation into the endoplasmic reticulum (ER).

GPI

translocation


Input: The study presented here was performed to investigate the association between the ACE genotype, microalbuminuria, retinopathy, and left ventricular hypertrophy in 106 patients with essential hypertension.

ACE

microalbuminuria


Input: Pttg1 may increase BC cell growth through nuclear exclusion of p27, which highlights a novel molecular regulatory machinery in tumorigenesis of BC.

tumorigenesis


Input: As Top1 has recently been shown to be involved in many transcription-associated genome instabilities, it is likely that AID took advantage of basic genome instability or diversification to evolve its mechanism for immune diversity.

AID

genome instability


Input: IL-1beta-induced ICAM-1 expression, extracellular signal-regulated kinase (ERK) and c-Jun-N-terminal kinase (JNK) phosphorylation, AP-1 activation, and nuclear factor-kappaB (NF-kappaB) p65 translocation were attenuated by the inhibitors of MEK1/2 (U0126), JNK (SP600125), AP-1 (tanshinone IIA), and NF-kappaB (helenalin) or transfection with respective short hairpin RNA plasmids.

translocation


Input: These data demonstrate a radiation-induced increase in immunoreactive annexin I in cultured lung fibroblasts, but fail to support the hypothesis of a positive correlation between annexin I concentration and fibrosis in irradiated rat lung.

annexin I

fibrosis


Input: RPN2-mediated glycosylation of tetraspanin CD63 regulates breast cancer cell malignancy.

malignancy


Input: As PLTP, LCAT, and hepatic lipase may enhance reverse cholesterol transport, it is tempting to speculate that high levels of these factors in association with insulin resistance could be involved in an antiatherogenic mechanism.

LCAT

insulin resistance


Input: Thirdly, recent evidence unravels a pathological role of ADAP1 because upregulation of ADAP1 by amyloid β-peptide causes ADAP1-Ras-ERK-dependent translocation of Elk-1 to mitochondria.

translocation


Input: Dronabinol affected fasting proximal MI in patients with IBS with diarrhea or alternating with the variant FAAH CA/AA (P =. 013).

FAAH

diarrhea


Input: MC4R mutations result in an autosomal codominant form of obesity with variable expressivity.

variable expressivity


Input: To test this theory, we evaluated the effects of mono-and bispecific oligos (with intrastrand complementarity), targeting BCL-2, upon the expression of non-targeted proteins PSMA, PSA and interferon-gamma (IFN-γ) in LNCaP cells.

IFN

mono


Input: Both hypoxia and interleukin-17A (IL-17A) promote the migration and invasion of fibroblast-like synoviocytes (FLSs), which are critical for the pathogenesis of rheumatoid arthritis (RA).

hypoxia


Input: Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth disease type 1A


Input: The gene encoding human myosin VIIA is responsible for Usher syndrome type III (USH1B), a disease which associates profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa.

myosin VIIA

vestibular dysfunction


Input: In this work, we present the sequencing of these genes in a set of ADLTE families without mutations in both LGI1/Epitempin and sporadic cases.

Epitempin

sporadic


Input: Our data provide evidence that TCF-1-mediated Wnt signaling is disturbed in small intestinal CD, which might contribute to the observed barrier dysfunction in the disease.

CD

CD


Input: Most patients with FXI deficiency are mild bleeders but certain patients with similar FXI activity exhibit different bleeding phenotype.

FXI

bleeding


Input: We showed that AGK was over-expressed in cervical cancer cell lines and clinical tissues, and over-expression of AGK was associated with poor survival outcomes of early-stage CSCC patients.

AGK

cervical cancer


Input: Cloning of both breakpoints revealed that the translocation does not interrupt the TWIST1 coding region, on 7p21, known to be causative for SCS, but downregulates TWIST1 expression due to a position effect.

translocation


Input: Taken together, the data presented here demonstrate that co-transduction of RPL23 enhances the therapeutic efficacy of adenoviral-mediated p53 gene transfer in models of human gastric cancer and support the use of this strategy for cancer treatment.

gastric cancer


Input: Ewing' s sarcoma cells also exhibited the potential for neural differentiation at the mRNA level; neuron-specific medium-and low-sized filament (NF-M and NF-L) expression was induced by dibutyryladenosine cyclic monophosphate.

NF-M

sarcoma


Input: The effects of Sonic hedgehog (Shh) signaling pathway activation on S-type neuroblastoma (NB) cell lines and its role in NB tumorigenesis were investigated.

Sonic hedgehog

tumorigenesis


Input: Fabry disease: 20 novel GLA mutations in 35 families.

GLA

Fabry disease

GLA

Fabry disease


Input: In melanoma cells, epigenetic silencing of OSM receptor (OSMR) by histone deacetylation contributes to escape of cell growth control by OSM.

OSM

melanoma


Input: When adjusted for sex, age, tumor stage and microsatellite instability (MSI) status, four polymorphisms were independent predictors of OS in the discovery cohort MTHFR Glu429Ala (HR: 1. 72, 95% CI: 1. 04-2. 84, p = 0. 036), ERCC5 His46His (HR: 1. 78, 95% CI: 1. 15-2. 76, p = 0. 01), SERPINE1-675indelG (HR: 0. 52, 95% CI: 0. 32-0. 84, p = 0. 008), and the homozygous deletion of GSTM1 gene (HR: 1. 4, 95% CI: 1. 03-1. 92, p = 0. 033).

GSTM1 gene

microsatellite instability


Input: The results suggest that an alteration of the p21 protein may be relevant in inducing an adrenocortical adenoma, a well differentiated and slowly growing benign tumour.

benign tumour


Input: Spreds, a recently established class of negative regulators of the Ras-ERK (extracellular signal-regulated kinase) pathway, are involved in hematogenesises, allergic disorders and tumourigenesis.

ERK

allergic disorders


Input: We aimed to screen for Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) or asymptomatic hyperCKemia using dried blood spot (DBS) assays.

DBS

limb-girdle muscular dystrophy


Input: Deletions or mutations of LIS1 on 17p13. 3 and mutations in XLIS (DCX) on Xq22. 3-q23 produce LIS.

XLIS

DCX

XLIS

DCX


Input: To find out whether polymorphisms 333-Ile/Val and 637-Asp/Gly of the transporter part of the antigen processing 1 gene (TAP1) are associated with the development of nasopharyngeal carcinoma (NPC), we studied a total of 374 subjects (209 patients and 165 controls).

nasopharyngeal carcinoma


Input: This review summarizes the current understanding of the role of p63 in tumorigenesis, metastasis, cell migration and senescence.

tumorigenesis


Input: These data indicated that the expression of the VEGF gene enhanced by bFGF or TNF-alpha appeared to be mediated in part through the transcription factor SP-1, suggesting a different mechanism from that for hypoxia-induced activation of the VEGF gene.

VEGF

hypoxia


Input: Pro-inflammatory pathways activated by interferon gamma (IFNγ) and toll-like receptor 4 (TLR4) ligands are profoundly involved in plaque formation and have been shown to involve cross-talk in all atheroma-interacting cell types leading to increased activation of signal transducer and activator of transcription-1 (STAT1) and elevated expression of pro-inflammatory mediators.

interferon gamma

plaque


Input: Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5.

connective tissue disorder

connective tissue disorder


Input: Namely, R3HDML and C20orf39 are significantly associated with depressive symptoms of schizophrenia (P (emp) & lt; 2 & #215; 10 & #8315; & #8309;) based on the minimum P-value and truncated-product methods, respectively.

depressive symptoms

depressive symptoms


Input: This agent also suppressed the increase of VEGF secretion and expression induced by hypoxia (1% O (2)).

VEGF

hypoxia


Input: Transcription factor AP-2 beta (TFAP2B) mutations are associated with the Char syndrome, a disorder associated with PDA, and with facial and fingers abnormalities.

abnormalities


Input: The canonical functional of Bcl-2 in terms of apoptosis inhibition is its ability to prevent mitochondrial permeabilization via inhibiting the translocation and oligomerization of pro-apoptotic proteins such as Bax; however, more recent evidence points to a novel mechanism of the anti-apoptotic activity of Bcl-2.

translocation


Input: CX-4945, a potent and selective CK2 inhibitor, induced autophagy in PC-9/GR and PC-9/ER, and which was supported by the induction of autophagic vacuoles and microtubule-associated protein 1 light chain 3 (LC3) expression, and the increase of punctate fluorescent signals in resistant cells pre-transfected with green fluorescent protein (GFP)-tagged LC3.

autophagic vacuoles


Input: Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.

Wilson disease

Wilson disease


Input: An increase in symptoms of depressed mood and a fall in heart rate occurred only in those who displayed increased CRP with nicotine abstinence (p < 0. 05), while systolic blood pressure fell only in those whose CRP levels decreased with abstinence (p < 0. 05).

CRP

fall


Input: Furthermore, JMJD1A gene silencing abrogated the hypoxia-induced ADM expression and inhibited HepG2 and Hep3B cell growth.

ADM

hypoxia


Input: The molecular chaperone hsp90alpha is secreted from invasive cancer cells and activates MMP-2 to enhance invasiveness, required for the first step in metastasis.

invasive cancer


Input: Heterozygosity for a dysfunctional IGF1 mutation leads to a mild effect on birth weight, adult height and head circumference.

birth weight


Input: We screened FUS in a cohort of 200 ALS patients [32 FALS and 168 sporadic ALS (SALS)].

FUS

sporadic


Input: Our findings provide a molecular linkage between the LKB1-AMPK and the RAF-MEK-ERK pathways and suggest that suppression of LKB1 function by B-RAF V600E plays an important role in B-RAF V600E-driven tumorigenesis.

tumorigenesis


Input: Recent findings have suggested that higher rates of chronic kidney disease (CKD) in individuals with recent African ancestry might be attributed to two risk alleles (G1 and G2) at the serum-resistance-associated (SRA)-interacting-domain-encoding region of APOL1.

SRA

chronic kidney disease


Input: In contrast with previously reported data, patients positive and negative for HOX11L2/t (5; 14) were comparable with regard to clinical outcome as well as to the response to a 7-day prephase treatment or to residual disease at completion of induction therapy.

residual disease


Input: We tested the association between a biallelic single-nucleotide polymorphism in the 3' untranslated region (UTR) of IL-12B and human susceptibility to tuberculosis (TB), in a population-based case-control study of adult patients with TB from 2 ethnicities, African American and white, and in a family-based transmission/disequilibrium study of 60 informative families with at least 1 pediatric patient with TB and 1 heterozygous parent.

UTR

susceptibility to tuberculosis


Input: Here, we identified mutations in IFT140, an IFT complex A gene, in five Jeune asphyxiating thoracic dystrophy (JATD) and two Mainzer-Saldino syndrome (MSS) families, by screening a cohort of 66 JATD/MSS patients using whole exome sequencing and targeted resequencing of a customized ciliopathy gene panel.

Mainzer-Saldino syndrome

Mainzer-Saldino syndrome


Input: Transcripts for ClC-2 thru ClC-7 were detected in a human glioma cell line by PCR, whereas only ClC-2, ClC-3, and ClC-5 protein could be identified by Western blot.

glioma

glioma


Input: We induced HLJ1 overexpression or knockdown in human lung adenocarcinoma CL1-5 cells and analyzed cell proliferation, anchorage-independent growth, in vivo tumorigenesis, cell motility, invasion, and cell cycle progression.

tumorigenesis


Input: Here we characterize novel dominant negative mutations in COL2A1 that result in Stickler syndrome.

Stickler syndrome

Stickler syndrome


Input: All familial and 53% to 84% of sporadic cases with diffuse or A > P SBH harbor a mutation of the DCX gene, leaving the genetic causes unexplained, and genetic counseling problematic, in the remaining patients.

DCX gene

sporadic


Input: We tested the hypothesis that spontaneous release of vasoactive intestinal peptide (VIP) from enteric neurons maintains homeostasis in smooth muscle function in mild inflammatory insults and that infusion of exogenous VIP has therapeutic effects on colonic smooth muscle dysfunction in inflammation.

VIP

mild


Input: MDA-7/IL-24 reduced MCL-1 and BCL-XL and increased BAX levels via PERK signaling; cell-killing was mediated via the intrinsic pathway, and cell killing was primarily necrotic as judged using Annexin V/propidium iodide staining.

PERK

necrotic


Input: The dopamine receptor D2 (DRD2) gene has polymorphisms that have been linked to regulation of the dopamine system and to an increased prevalence of smoking.

smoking


Input: Variants in TNFSF4, TNFAIP3, TNIP1, BLK, SLC15A4 and UBE2L3 interact to confer risk of systemic lupus erythematosus in Chinese population.

systemic lupus erythematosus

systemic lupus erythematosus


Input: Taken together, these in vitro and in vivo characterisations of the tachykinin NK (3) receptor antagonists GSK172981 and GSK256471 support their potential utility in the treatment of schizophrenia.

NK (3) receptor

schizophrenia

NK (3) receptor

schizophrenia


Input: The data show that LMP2 and LMP7 gene polymorphism is not a risk factor of acute coronary syndrome in Ukrainian population.

acute coronary syndrome


Input: Levels of free fatty acids (FFA) are associated with insulin resistance but do not explain the relationship between adiposity and insulin resistance in Hispanic Americans: the IRAS Family Study.

IRAS

insulin resistance


Input: Male subjects with the T0 genotype showed greater dermal erythema following topical application of methylnicotinate, suggesting that this polymorphism may be in linkage disequilibrium with a functional polymorphism of the FACL4 gene that modulates re-sequestration of agonist-released free AA.

erythema

erythema


Input: Our data suggest an important role of DAPK1 for silencing through promoter CpG island hypermethylation in the development of brain metastases from solid tumors.

metastases

metastases


Input: These MSCs also induced aortic ring sprouting, characteristic of neovascular formation from pre-existing vessels, and additionally promoted neovascularization at the MSC transplantation site in a mouse model.

MSC

neovascularization


Input: Constitutive STC2 expression in human breast cancer cell lines resulted in significant impairment of cell growth, migration and cell viability after serum withdrawal.

breast cancer

breast cancer


Input: Expression of EXO1 module was found as indicative of elevated cell proliferation, genomic instability, activated RAS/AKT/MYC/E2F1 signaling pathways and loss of p53 activity in breast tumors.

AKT

genomic instability


Input: Elevation of breast SAMP lyase concurred with macroscopic presence of dimethylbenzanthracene involved breast tumors with elevation of LSA occurring 12 weeks later.

SAMP

breast tumors


Input: In this study, patients with HFE gene mutations on HD for established renal failure do not require less iron supplementation to achieve recommended Hb targets.

HFE gene

renal failure


Input: Transactivation-responsive DNA-binding protein 43 (TDP-43) is a component of pathological inclusions in amyotrophic lateral sclerosis and several forms of sporadic and familial frontotemporal lobar degeneration.

DNA-binding protein

amyotrophic lateral sclerosis


Input: A pharmacological inhibitor of p110 & #947; (encoded by PIK3CG) impaired cell proliferation in medulloblastoma cell lines and sensitized the cells to cisplatin treatment.

medulloblastoma

medulloblastoma


Input: Molecular evolutionary studies have reported that SNPs in/near the uncoupling protein 3 gene (UCP3) and the regulatory associated protein of mTOR complex 1 gene (RPTOR) might influence NST and confer adaptive advantages for modern human dispersal into cold environments.

cold


Input: The histology showed generalized arterial calcification and the molecular analysis identified mutations in ABCC6.

generalized arterial calcification


Input: As noted in a previous report, MUC1-CT was recruited to genomic regions upstream of the connective tissue growth factor (CTGF) accompanied with β-catenin and p53, resulting in the hypoxic induction of CTGF.

hypoxic


Input: Hypoxia-mediated down-regulation was specific for FLT3, reversible and proteasome-dependent; with FLT3 half-life being significantly shorter at hypoxia.

hypoxia


Input: The A375/TSP2 showed significantly decreased liver metastatic potential (liver weight: 3. 88 +/-0. 30 g in A375/TSP2, 7. 07 +/-0. 67 g in vector-transfectant (A375/V), p < 0. 01, Mann-Whitney U test) in super immuno-deficient mice (NOD/SCID/gammacnull, NOG).

weight


Input: Therefore, the aim of the present study was to characterize the activation status of freshly isolated tumor infiltrating lymphocytes (TIL) from prostate carcinomas (PCa) and benign hyperplasia (BPH) with respect to the mRNA expression of cytokines and apoptotic factors.

TIL

hyperplasia


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

heparanase

breast-cancer

heparanase

breast-cancer


Input: The karyotype of this case indicates that SEF is unrelated to extraskeletal myxoid chondrosarcoma, clear cell sarcoma, and synovial sarcoma.

SEF

chondrosarcoma, clear cell


Input: In conclusion, GSTs, EPHX1, and XPD are potential genetic factors for arsenic-induced skin cancers.

skin cancers

skin cancers


Input: In the present study, we assessed the expression of transcription factors (NeuroD and mASH1) essential for the normal fetal neuronal development in 33 gastroenteropancreatic neuroendocrine tumor patients (12 well-differentiated neuroendocrine tumors, 7 well-differentiated neuroendocrine carcinomas, and 14 poorly differentiated neuroendocrine carcinomas).

NeuroD

gastroenteropancreatic neuroendocrine tumor


Input: Painful hypersensitivity to norepinephrine (NE) has been reported in various chronic pain conditions that exhibit sympathetically-maintained pain (SMP), particularly CRPS-I and II.

SMP

pain


Input: In wild-type VHL cells, whereas VEGF-A was significantly up-regulated under hypoxic compared with normoxic conditions (P < 0. 001), expression of VEGF-C was reduced (P < 0. 002).

VEGF-A

hypoxic


Input: Inactivation of mouse Tlr4 causes an asymptomatic carrier state resembling asymptomatic bacteriuria (ABU).

asymptomatic


Input: The-449G polymorphism in the DDAH2 gene was associated with both low plasma ADMA and an increased likelihood of presenting with " cold " shock in pediatric sepsis, but not with vasopressor requirement.

DDAH2 gene

shock


Input: This results in multiple peroxisomal abnormalities which includes a deficiency of acyl-CoA: dihydroxyacetonephosphate acyltransferase (DHAPAT), alkyl-dihydroxyacetonephosphate synthase (alkyl-DHAP synthase), peroxisomal 3-ketoacyl-CoA thiolase and phytanoyl-CoA hydroxylase, although there are differences in the extent of the deficiencies observed.

alkyl-DHAP synthase

abnormalities


Input: Intravenous CGRP triggers migraine-like attacks in patients with migraine with aura and without aura.

CGRP

aura


Input: Human platelet antigen (HPA) systems are involved in alloimmunization, organ transplantation rejection and the development of cardiovascular disease.

HPA

transplantation rejection


Input: The study was underpowered to detect expected associations between percent density and breast cancer, but women with absolute MRI dense volume in the upper half of the distribution had double the risk of those in the lower half (P = 0. 009).

MRI

breast cancer


Input: Additionally, we found that PDHA1 and the PDC activator pyruvate dehydrogenase phosphatase 1 (PDP1) are frequently amplified and overexpressed at both the gene and protein levels in prostate tumors.

prostate tumors

prostate tumors


Input: Bone marrow (BM)-derived EPCs were exposed to hypoxia to mimic the atherosclerotic environment and miR-26a, EphA2 and p38 MAPK levels were measured by qRT-PCR and western blotting, and VEGF levels were determined by enzyme linked immunosorbent assay.

VEGF

hypoxia


Input: These finding reveals Smad5 as a potential target for the therapeutic of type 2 diabetes.

type 2 diabetes

type 2 diabetes


Input: Diabetic gastroparesis is associated with increased oxidative stress attributable to loss of upregulation of heme oxygenase-1 (HO1), with resultant damage to interstitial cells of Cajal and delayed gastric emptying.

heme oxygenase-1

delayed gastric emptying

heme oxygenase-1

delayed gastric emptying


Input: Small ubiquitin-like modifier 4 (SUMO4) has been identified as a candidate gene for the IDDM5 locus and suggested to have possible involvement in immune responses, such as autoimmunity and inflammation.

inflammation


Input: Here, we report three individuals from two unrelated families with radiological features similar to PPRD and SED, Stanescu type who share the same novel COL2A1 variant and were matched following discussion at an academic conference.

SED, Stanescu type

SED, Stanescu type


Input: GGA was found to significantly protect rats from ethanol-induced gastric damage by increasing mucus levels, MUC5AC and MUC6, especially at ethanol-induced ulcer margins, but not by MUC1.

ulcer


Input: Using survival tree and regression methodologies, we show that CEBPA (DM), CD34, and IDH2 mutations are capable of separating the intermediate group into 2 AML subgroups with highly distinctive survival characteristics (OS at 60 months: 51. 9% vs 14. 9%).

CEBPA

regression


Input: The human synovial sarcoma-specific translocation t (X; 18) results in the fusion of the SYT gene on chromosome 18 with either one of the Krüppel-associated box (KRAB) containing SSX1 or SSX2 genes on the X chromosome, depending on the exact location of the breakpoint within band Xp11. 2.

translocation


Input: There was no relationship of limbal stem cell failure with the severity of EEC syndrome, as classified by the EEC score, or the underlying molecular defect in p63.

EEC syndrome

EEC syndrome


Input: MSP and BGS analysis showed that the GATA4 gene promoter is hypermethylated in AML cells, such as the HL-60 and MV4-11 human myeloid leukemia cell lines.

GATA4 gene

myeloid leukemia


Input: To evaluate differences in fluorescein angiography (FA) and indocyanine green angiography (ICGA), findings between subjects affected by Stargardt disease (STGD) and atrophic AMD.

Stargardt disease

atrophic


Input: We previously identified a novel genomic instability phenotype of multiple reciprocal chromosomal translocations in a MLH1-defective, microsatellite unstable (MSI) colon cancer cell line (HCA7) and, further, showed that it was unlikely to be directly caused by the mismatch repair (MMR) defect in this cell line.

genomic instability


Input: Neonates with intractable diarrhea underwent immunologic assessments including immunoglobulin levels, lymphocyte subsets, lymphocyte proliferation, superoxide production, and IL-10 signaling function.

intractable diarrhea


Input: We identified protein kinase C epsilon (PKCε encoded by the PRKCE gene) as a novel direct target of miR-31 and show that down-regulation of PKCε results in impaired NF-κB signaling, enhanced apoptosis, and increased sensitivity of MCF10A breast epithelial and MDA-MB-231 triple-negative breast cancer cells toward ionizing radiation as well as treatment with chemotherapeutics.

PRKCE gene

triple-negative breast cancer


Input: " Double-hit " (DH) lymphomas are B-cell neoplasms characterized by a translocation involving MYC and either BCL2 or BCL6 In the indexed literature, there are no reported cases of PMLBCL associated with DH or triple-hit events.

translocation


Input: The present study was designed to investigate the putative protective effects of CCK and leptin on acute colonic inflammation.

CCK

inflammation

CCK

inflammation


Input: The endogenous natriuretic peptide/NPR-A system may inhibit renal fibrosis partly via inhibition of the angiotensin/AP-1/TGF-beta/collagen pathway and exogenous ANP pre-treatment may inhibit it partly via both the angiotensin/AP-1/TGF-beta/collagen and NF-kappaB/inflammatory pathways.

renal fibrosis


Input: This paper reports the effects on grooming, related behaviors and levels of anxiety induced by the hypophysiotropic peptides corticotropin-releasing hormone (CRH, 1 microgram, 0. 2 nmol, icv), thyrotropin-releasing hormone (TRH, 100 micrograms, 275 nmol, icv) and luteinizing hormone-releasing hormone (LHRH, 1. 5 micrograms, 1. 3 nmol, icv) administered into the lateral ventricle of the brain (icv) of adult male rats of a Holtzman-derived colony (N = 15, each group).

corticotropin-releasing hormone

anxiety

corticotropin-releasing hormone

anxiety


Input: There is evidence that indicates the involvement of environmental and genetic factors in the pathogenesis of post-stroke dementia (PSD).

PSD

stroke


Input: The group ranges from the mildest recessive form of multiple epiphyseal dysplasia (r-MED) through the most common DTD to perinatally lethal atelosteogenesis type II and achondrogenesis 1B.

MED

achondrogenesis


Input: A bcl-2-associated translocation was also detected in one case.

translocation


Input: Administration of warfarin, which inactivates Gas6, inhibited mesangial and glomerular hypertrophy and the increase in albuminuria in STZ-rats.

STZ

albuminuria


Input: A subset of childhood and young adult renal cell carcinomas displays a recurrent translocation t (X; 17) (p11; q25) as the sole cytogenetic abnormality.

cytogenetic abnormality


Input: We report the IGH-MALT1 translocation in a cutaneous DLBCL as shown by classical cytogenetics and molecular cytogenetic analysis.

translocation


Input: In total, 175 neuroblastoma samples with known MYCN status, as determined by FISH and/or SB, were examined.

FISH

neuroblastoma


Input: A novel type of pituitary-specific transcription factor, Prophet of Pit-1 (Prop-1) gene (PROP1), expresses in just early embryonic stage in mouse and closely related as a causative gene in combined pituitary hormone deficiency.

pituitary hormone deficiency


Input: Our findings add a new aspect to the mosaic of the p53 mutability in B-CLL.

B-CLL

B-CLL


Input: 18F-FDG kinetics were evaluated by use of compartment and noncompartment models of giant cell tumors.

FDG

giant cell tumors


Input: Mice deficient for Cav1 or the nuclear bile acid receptor farnesoid X receptor showed hyperplasia and hyperkeratosis of the basal cell layer of esophageal epithelia, respectively.

farnesoid X receptor

esophageal


Input: Thus, our observations suggest that AML1-ETO and its splice variant AML1-ETO9a are able to regulate the expression of the CD44 gene, linking the 8; 21 translocation to the regulation of a cell adhesion molecule that is involved in the growth and maintenance of the AML blast/stem cells.

translocation


Input: Kaplan-Meier analysis indicated that SERCA3 expression was positively associated with favorable prognosis of the patients with gastric carcinoma (P > 0. 05).

gastric carcinoma


Input: In patients with-55CC UCP3 genotype, a high mono-unsaturated hypocaloric diet reduced BMI, weight, waist circumference, waist to hip ratio, fat mass, LDL-cholesterol, total cholesterol and leptin levels.

waist to hip ratio


Input: More than 80% of the patients with follicular lymphoma have a characteristic chromosomal translocation, t (14; 18) (q32; q21), at the major breakpoint region (MBR) or minor cluster region (MCR) involving the bcl-2 oncogene.

chromosomal translocation


Input: The role of ERK and JNK signaling in connective tissue growth factor induced extracellular matrix protein production and scar formation.

JNK

scar


Input: When we screened for deletions on the Yq of males suffering from infertility, we found that HSFY was involved in interstitial deletions on the Y chromosomes for two azoospermic males who had DBY, USP9Y, and DAZ but did not have RBMY located on the AZFb.

DBY

infertility


Input: ecent epidemiological studies in Swedish school age children revealed a prevalence of severe mental retardation (SMR = IQ less than 50) of 0. 3% and of mild mental retardation (MMR = IQ 50-70) around 0. 4%.

SMR

severe mental retardation


Input: Multiple mis-sense variants were identified in patients with ocular and/or skeletal (Klippel-Feil) anomalies including one individual with heterozygous alterations in GDF3 and GDF6.

Klippel-Feil

Klippel-Feil


Input: Exogenous expression of VCX-A in rat primary hippocampal neurons, which normally do not express the primate-restricted VCX proteins, promoted neurite arborization, and shRNA-directed knockdown of the VCX genes in SH-SY5Y cells resulted in a reduction of both primary and secondary neurite projections upon differentiation.

VCX

secondary


Input: We studied the clinicopathological features in 72 cases of epithelioid sarcoma and in six cases of malignant rhabdoid tumor, and also assessed the immunohistochemical expression of dysadherin, E-cadherin and MIB-1 in epithelioid sarcoma and malignant rhabdoid tumor cases.

E-cadherin

epithelioid sarcoma


Input: This observation strongly supports the hypothesis that RAB7 mutations are responsible for CMT2B.


Input: These findings indicate that CD96 mutations may cause a form of the C syndrome by interfering with cell adhesion and growth.

C syndrome

C syndrome


Input: GATA4 and NKX2. 5 genes were screened in cardiac tissue of sporadic and in blood samples of familial cases.

NKX2. 5

sporadic


Input: Therefore, cardiac overexpression of RALT improves cardiac function and inhibits maladaptive hypertrophy, inflammation, and fibrosis through attenuating epidermal growth factor receptor-dependent signaling.

RALT

hypertrophy


Input: Animal studies have illustrated the importance of the expression in adipose tissue of the leptin receptor (OB-R), and of SOCS3 an inhibitor of the leptin signaling pathway, in body weight regulation.

body weight


Input: Three hundred sixty-four Mexican Mestizo Mexico City residents from 87 families with at least one smoker were assessed for association of 12 gene variants of six candidate genes (CHRNA4, CHRNB2, DRD2, ANKK1, SLC6A3, and CYP2A6) with cigarette consumption, age of initiation and smoking duration.

smoking


Input: To investigate the role of p185 (her2/neu)/ErbB3 signaling in pituitary tumor function, we examined these receptors in human prolactinomas.

pituitary tumor


Input: This review finds evidence that AHR and smoking are common risk factors for asthma and COPD.

AHR

smoking


Input: These findings suggest that spinal segmentation can occur normally in the absence of filamin B, but the protein is required for maintenance of intervertebral, carpal and sternal joints, and the joint fusion process commences antenatally.

filamin B

joint fusion


Input: Effect of folylpolyglutamate synthase A22G polymorphism on the risk and survival of patients with acute lymphoblastic leukemia.

folylpolyglutamate synthase

acute lymphoblastic leukemia

folylpolyglutamate synthase

acute lymphoblastic leukemia


Input: Role of tumor necrosis factor receptor 2 (TNFR2) in colonic epithelial hyperplasia and chronic intestinal inflammation in mice.

inflammation


Input: The patient had hypercalcaemia associated with increased calcitriol serum levels; circulating interleukin-6 and tumour necrosis factor alpha levels were also elevated.

tumour necrosis factor alpha

hypercalcaemia

tumour necrosis factor alpha

hypercalcaemia


Input: In this review, we aim to compare the role of several key DNA or histone modifying enzymes and complexes in normal development and hematopoietic malignancies, including DNMT3A, TET2, IDH1, IDH2, MLL1, MLL4, DOT1L, PRC1/2 and WSHC1/NSD2/MMSET.

hematopoietic malignancies


Input: However, in the present study, we investigated the therapeutic effects of hepatocyte growth factor modified hucMSCs (HGF-hucMSCs) in ischemia/reperfusion-induced AKI rat models.

HGF

ischemia


Input: Kaplan-Meier and log-rank tests revealed that loss or weak positivity of GR significantly or marginally correlated with recurrence of NMI tumors (P =. 025), progression of MI tumors (P =. 082), and cancer-specific survival of MI tumors (P =. 067).

NMI

cancer


Input: Sequential staining revealed that pathologic ACE overexpression of the atherosclerotic lesions occurred in intimal smooth muscle cells, fibrocytes/fibroblasts and macrophage/foam cells.

ACE

foam cells


Input: These results identify a previously undescribed KCNH2 channel isoform involved in cortical physiology, cognition and psychosis, providing a potential new therapeutic drug target.

psychosis

psychosis


Input: We studied the effects of recombinant human (rh) SF/HGF in vitro and in vivo in a rabbit model of hindlimb ischemia.

HGF

ischemia


Input: Together, the results of this study suggest that miR-141 and its targets PHLPP1 and PHLPP2 play critical roles in NSCLC tumorigenesis, and provide potential therapeutic targets for NSCLC treatment.

tumorigenesis


Input: To elucidate the effects of redox balance regulation on epidermal pigmentation, we used an antioxidant-rich extract of the herb Melia toosendan (dried mature fruits) to assess its effect on endothelin-1 (EDN1)-stimulated pigmentation in human epidermal equivalents and analyzed its biological mechanism of action.

pigmentation


Input: Diabetes-induced renal oxidative damage, inflammation and up-regulated expression of profibrosis mediator connective tissue growth factor (CTGF) were also markedly attenuated by Zn supplementation, along with significant increases in Zn levels concomitant with MT expression in renal tubular cells.

CTGF

inflammation


Input: In conclusion, marijuana users that had smoked marijuana & #8805; 20 times in their lives and stopped cannabis use at least 6 months before the study show an increase in CB2 receptor mRNA in the blood and in serum anandamide level.

cannabis use

cannabis use


Input: The less seriously affected patient was taller (145 cm) and had no atlantoaxial instability, absence of the femoral head on radiography with visible cartilage anlage on MRI, and subluxated cartilaginous femoral head.

MRI

atlantoaxial instability


Input: For that, we analysed the immunohistochemical expression of MCT1, MCT4 and CD147, in a large series of gastric samples, including non-neoplastic, tumour and metastatic tissues.

non-neoplastic


Input: By analyzing lung cancer transcriptome sequencing and genomic data, we identified a novel R3HDM2-NFE2 fusion in the H1792 cell line.

lung cancer


Input: The myoferlin overexpressors show no skeletal muscle abnormalities, and crossing them with a dysferlin-deficient model rescues the membrane fusion defect present in dysferlin-deficient mice in vitro.

dysferlin

abnormalities


Input: IgE-FcεRI complex dissociation was analyzed in vitro by using recombinant proteins in ELISA and surface plasmon resonance, ex vivo by using human primary basophils with flow cytometry, and in vivo by using human FcεRI α-chain transgenic mice in a functional passive cutaneous anaphylaxis test.

α-chain

dissociation


Input: We propose that patients with apparently isolated HDL deficiency who are found to carry ABCA1 mutations may in fact belong to a category of TD patients whose phenotypic features are only partially expressed, and that a number of hidden clinical variants of TD might exist among other HDL deficiency patients who have escaped correct clinical diagnosis.

TD

TD


Input: When the study population was analyzed as a whole, the 3 ACE genotypes did not differ in left ventricular mass (II, 47 g/m2. 7; ID, 49 g/m2. 7; DD, 51 g/m2. 7; p = NS).

ACE

left ventricular mass


Input: This finding suggests that both nonsense mutations and missense SCN2A mutations cause Dravet syndrome.

Dravet syndrome

Dravet syndrome


Input: No significant differences were found in the anxiety-related personality traits among genotypes, while cooperativeness in TCI showed a significant difference among genotypes.

TCI

anxiety


Input: In the present study, we aimed to clarify the expression of lumican mRNA and its protein in human cervical cancer cell lines (CaSki, ME-180 and HeLa cells) and their localization in normal and cancerous human cervical tissues.

lumican

cervical cancer


Input: We confirmed the effect of HIF-1α on NMBR transcription by performing an NMBR promoter-driven reporter assay and then identified a functional hypoxia-responsive element (HRE) in the human NMBR promoter region.

NMBR

hypoxia


Input: In all four human glioma lines tested, the multiplicities of infection (MOIs) for transduction of 50% of the population (ED50) were decreased with F/K20-Adv compared with F/wt-Adv: 7-fold for T98G, 14-fold for U251, 9-fold for U373, and 42-fold for U87 cells.

glioma


Input: Consistent with the hypothesis that DBC1 is crucial for HFD-induced inhibition of SIRT1 and for the development of experimental liver steatosis, genetic deletion of Dbc1 in mice led to increased SIRT1 activity in several tissues, including liver.

liver steatosis


Input: These data suggest that naofen expression may be upregulated by hyperglycemia, with possible correlation to apoptosis of tubular epithelial cells and thereby to diabetic nephropathy.

naofen

hyperglycemia


Input: Furthermore, these studies provide strong evidence for the potential usefulness of a suitable, stable, and long-acting form of CocE as a pharmacotherapy for cocaine abuse in humans.

CocE

cocaine abuse

CocE

cocaine abuse


Input: The non-smoking men who reported alcohol consumption and who were homozygous for the CETP V405 allele had 16% higher plasma apoAI concentration than those who carried the I405 allele, and up to 20% higher apoAI level than smokers.

CETP

alcohol consumption


Input: Recombinant HRAS (E37dup) was characterized by slightly increased GTP/GDP dissociation, lower intrinsic GTPase activity and complete resistance to neurofibromin 1 GTPase-activating protein (GAP) stimulation due to dramatically reduced binding.

GAP

dissociation


Input: We hypothesize that an elevated level of AR gene expression could confer higher risk for development of diabetic eye disease.

AR gene

diabetic eye disease


Input: Genotyping the GGN and CAG repeats of the AR gene, and measuring body weight, height and waist and hip circumferences.

AR gene

body weight


Input: Out of 251 infertile men, 57 (22. 7%) men were with varicocele, of which 8. 77% were azoospermic, 26. 31% were severely oligozoospermic, 21. 05% were mildly oligozoospermic, and 43. 85% were oligoasthenoteratozoospermic (OAT), and 194 (77. 29%), with idiopathic infertility, of which 51% were azoospermic, 13. 40% were severely oligozoospermic, 19. 07% were mildly oligozoospermic, and 16. 4% were with OAT.

OAT

varicocele


Input: In humans, the 6Lys-81Ile haplotype of melanocortin-3 receptor (MC3R) gene has been associated with childhood obesity, higher body fat percentage, and reduced fat oxidation compared to non-carriers.

body fat percentage


Input: In anaplastic meningioma, there is a sharp decrease in the number of T cells, including the numbers of CD4 + and CD8 + T cells and cells expressing PD-1 and there is also an increase in the number of FOXP3 expressing immunoregulatory (Treg) cells.

anaplastic meningioma


Input: One form of congenital muscular dystrophy, rigid spine syndrome (MIM 602771), is a rare neuromuscular disorder characterized by early rigidity of the spine and respiratory insufficiency.

MIM

congenital muscular dystrophy


Input: Some investigators believe CLU to be an oncogene, others-an inhibitor of tumorigenesis.

CLU

tumorigenesis