Input: Antibodies from patients with heparin-induced thrombocytopenia/thrombosis recognize different epitopes on heparin: platelet factor 4.

platelet factor 4

thrombosis

platelet factor 4

thrombosis


Input: The relative mRNA expression levels of pulmonary Wnt11 and RhoA on D21 were significantly increased in the CDH group compared with the control group (p = 0. 016 and p = 0. 008, respectively).

CDH

CDH


Input: In a transgenic mouse with cardiac specific expression of the Thr400Asn mutation in PRKAG2 (TG (T400N)), we previously reported initial cardiac hypertrophy (ages 2-8 weeks) followed by dilation and failure (ages 12-20 weeks).

cardiac hypertrophy


Input: Samples from age-matched controls (n = 253), sporadic AD (SAD, n = 256) and familial AD (FAD, n = 140) were screened with DHPLC methodology followed by sequencing.

FAD

sporadic


Input: Correlation of sequencing and biochemical data reveals that using plasma guanidinoacetate (GAA) as a biomarker has 100% specificity for both AGAT and GAMT deficiencies, but AGAT deficiency has decreased sensitivity in this assay.

AGAT

AGAT deficiency

AGAT

AGAT deficiency


Input: Craniofrontonasal syndrome (CFNS) is characterized by craniosynostosis, hypertelorism, a broad nasal tip and occasionally cleft lip and palate, and is caused by a mutation in the ephrin-B1 gene (EFNB1).

cleft lip and palate


Input: In breast cancer patients, the expression level of lncRNA RP11-445H22. 4 is significantly increased (p < 0. 001).

RP11-445H22. 4

breast cancer


Input: Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

chromosome deletion


Input: The effect of these variants on GAMT enzyme activity was overexpressed using primary GAMT-D fibroblasts: 17 variants retained no significant activity and are therefore considered pathogenic.

GAMT

GAMT-D

GAMT

GAMT-D


Input: The mean value of the last 6 months' monthly evaluated laboratory values (C-reactive protein, hemoglobin, iron indices, PTH, and albumin) and clinical findings (rHuEPO requirement, cumulative iron supplementation doses, and body weight) were analyzed retrospectively excluding patients with chronic inflammation, hemolytic anemia, or active blood loss such as gastrointestinal bleeding.

PTH

body weight


Input: To determine whether genetic variation of ADRB2 influences outcome in septic shock.

septic shock


Input: Reduction of DP103 expression in invasive breast cancer cells reduced phosphorylation of IKK2, abrogated NF-κB-mediated MMP9 expression, and impeded metastasis in a murine xenograft model.

NF-κB

invasive breast cancer


Input: Interestingly, the HLA-DRB5 * null subjects appear to be at increased risk for developing secondary progressive MS.

secondary


Input: Although their upregulation turned out to be HIF-1α-dependent, we identified further transcription factors mainly AP-1 components to play also an important role in hypoxia response.

hypoxia


Input: In this study, we showed that progranulin-deficient mice displayed increased depression-and disinhibition-like behavior, as well as deficits in social recognition from a relatively young age.

progranulin

depression

progranulin

depression


Input: Taken together, our results show that MFG-E8 is expressed in triple-negative breast cancers as a target gene of the p63 pathway, but may serve a suppressive function in ER (+) and erbB2 (+) breast cancers.

breast cancers

breast cancers


Input: Significant allele frequency differences between schizophrenia cases and controls were observed at 4 tagSNPs located in the genes DRD5, HTR1B1, DBH, and TH1 (P < 0. 005).

schizophrenia


Input: IFN-regulated genes were also found to correlate with the MRSS, and the addition of interferon-inducible 44 (IFI44) and sialoadhesin (Siglec-1) to COMP and TSP-1 in multiple regression analyses significantly improved best-fit models, achieving an R (2) value of 0. 89.

COMP

fit


Input: The desmoplastic type showed high expression of podoplanin, prolyl 4-hydroxylase, S100A4, PDGFRα, and PDGFRβ, whereas the sclerotic type exhibited low expression of FAPα, PDGFα, PDGFβ, and NG2.

desmoplastic


Input: Left ventricular myocytes from adult dogs were cultured and infected with a replication-deficient adenovirus designed to increase expression of the human form of HSP27.

adenovirus


Input: This study examined whether evidence of cerebrovascular disease in the form of magnetic resonance imaging (MRI) signal hyperintensities in white matter was associated with depressive symptoms in a high-functioning group of normal elderly volunteers.

MRI

depressive symptoms


Input: Genotypes for ERLIN1, TRAPPC9, and WNK2 may prove informative for assessment of the genetic risk for intracerebral hemorrhage, and those for ITM2C and MAPKAP1 may be beneficial in assessment of the genetic risk for subarachnoid hemorrhage in Japanese individuals.

intracerebral hemorrhage


Input: Through a public database search, we found that a number of genes known to be involved in amino acid metabolism, i. e., AGXT, ALDH2, APIP, MTR, DNMT1, ASH1L, ASPA, CAD, DDC, GCDH, DLD, LAP3, MCEE and MUT, harbor mononucleotide repeats that may serve as mutation targets in cancers exhibiting microsatellite instability (MSI).

MCEE

cancers


Input: We found that loss of DCD expression led to reduced cell proliferation, resistance to apoptosis, and suppressed tumorigenesis in immunodeficient mice.

DCD

tumorigenesis


Input: Thus, our complementary approaches identify CUX1 as a pan-driver of tumorigenesis and uncover a potential strategy for treating CUX1-mutant tumors.

tumorigenesis


Input: Magnetic resonance imaging (MRI) showed the characteristic white matter abnormalities of merosin-negative congenital muscular dystrophy.

MRI

merosin-negative congenital muscular dystrophy


Input: These tumors contain a characteristic translocation, t (11; 22), that produces a unique fusion protein, EWS/FLI-1.

EWS

translocation


Input: Furthermore, IL-6-induced SOCS3 expression is inhibited by rapamycin, and ectopic expression of SOCS3 blocks the ability of rapamycin to enhance insulin sensitivity in the presence of IL-6.

insulin sensitivity


Input: Cysteine-rich protein 61 (Cyr61) selectively binds heparin and insulin-like growth factors and mediates a variety of biological actions, including cell adhesion, differentiation, proliferation, migration, angiogenesis, and tumorigenesis.

tumorigenesis


Input: Altogether, these findings revealed: i) the key role of the small GTPase RhoA in upregulation of Nav1. 5 channel expression and tumor aggressiveness, and ii) the existence of a positive feedback of Nav1. 5 channels on RhoA protein levels.

Nav1. 5

tumor


Input: Two groups of gain-of-function mutations in sodium channel NaV1. 7, which are expressed in dorsal root ganglion (DRG) neurons, produce two clinically-distinct pain syndromes-inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD).

DRG

pain syndromes


Input: Thus, the Vanin-1/pantetheinase activity might be a new target for therapeutic intervention in inflammatory bowel disease.

inflammatory bowel disease

inflammatory bowel disease


Input: A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

3C syndrome

3C syndrome


Input: Heparin-binding epidermal growth factor-like growth factor reduces intestinal apoptosis in neonatal rats with necrotizing enterocolitis.

Heparin-binding epidermal growth factor

necrotizing enterocolitis

Heparin-binding epidermal growth factor

necrotizing enterocolitis


Input: We recently reported that CD40L mediates atherogenesis independently of CD40 and proposed Mac-1 as an alternate receptor.

atherogenesis


Input: We review recent findings regarding the properties of ATF5 and the major roles that this transcription factor plays in development of the nervous system and in survival of neural tumors.

nervous system


Input: In approximately 10% of multiple myelomas, the initiating oncogenic event is translocation of musculoaponeurotic fibrosarcoma oncogene homolog (MAF), a transcriptional activator of key target genes, including cyclinD2.

MAF

translocation


Input: The current data, based on a large cohort (n = 929) of Chinese patients with gastric cancer, suggested that the presence of SOD2 rs4880 and GSTP1 rs1695 genotypes may contribute to cancer progression as well as tumor aggressiveness.

aggressiveness


Input: AIM: This study examines whether HGF and its phenotypic correlations with obesity and blood pressure (BP), in healthy individuals, are due to shared genetic or common environmental factors.

HGF

blood pressure


Input: Our results suggest that BLM suppresses genome instability by aiding FEN1 cleavage of structure-containing flaps.

genome instability


Input: Conversely, gain of FGF23 function by injection of wild-type mice with recombinant FGF23 or by elevated circulating levels of endogenous Fgf23 in Hyp mice increases distal tubular Na (+) uptake and membrane abundance of NCC, leading to volume expansion, hypertension, and heart hypertrophy in a αKlotho and dietary Na (+)-dependent fashion.

NCC

heart hypertrophy


Input: Heterogeneous SIRT1 expression was commonly observed in classic medulloblastoma.

classic medulloblastoma


Input: Histopathological and immunohistochemical analysis for some features associated with tumour aggressiveness and semi-quantitative RT-PCR for SSTR1-5 and real-time qPCR for SSTR5 were performed.

aggressiveness


Input: Our results indicate that not only major rearrangements, but also point mutations altering the EYA1 reading frame, can be found in patients with OFC syndrome.

OFC syndrome

OFC syndrome


Input: At the edge of both types of ulcers, keratinocytes were p63 +, CD29 +, PCNA + and p53-.

PCNA

ulcers


Input: Alterations in the CREB, PKA, and cAMP levels in the cerebral cortex and hippocampus were examined up to 7 days after microsphere embolism.

CREB

embolism


Input: Consistent with these data, clinical analysis indicates that AGR2 expression is related to treatment failure in ERalpha-positive breast cancers treated with tamoxifen.

breast cancers

breast cancers


Input: Chronic lithium rescued the depression-like behavior in GluD1 KO.

depression


Input: MIF could be of prognostic value in gastric cancer and might be a potential target for small-molecule therapy.

MIF

gastric cancer


Input: Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice.

Six 1

craniofacial abnormalities

Six 1

craniofacial abnormalities


Input: We report the mechanism of a CD4 (+) T regulatory type 1 (Tr1) induction by CD11c (+) mature dendritic cells (DCs) that phagocytose allogeneic and autologous COX-2-overexpressing glioma.

glioma


Input: De novo mutations of PRRT2 can cause sporadic benign infantile seizures.

sporadic


Input: The protection correlated well with a robust C. muridarum-specific antibody and a Th1-dominant T cell responses, which significantly reduced the severity but not overall incidence of hydrosalpinx.

hydrosalpinx


Input: We studied the role of genetic instability and associated TGF-beta-receptor-II-gene mutations in a series of 18 sporadic cases by analyzing 5 microsatellite loci (D2S123, D3S1029, D5S409, TP53 and BAT26) and by sequencing a poly-A repeat (nucleotides 709-718) in the TGF-beta-receptor-II gene.

sporadic


Input: A key question is the role of leucocyte LOX-1 in pro-atherogenic lipid particle trafficking, accumulation and signalling leading to differentiation into foam cells, necrosis and plaque development.

necrosis


Input: These results are not unexpected, because the two common mutations for Apert syndrome alter FGFR2 at adjacent amino acids that are likely to have similar biological, and therefore phenotypic, consequences.

Apert syndrome

Apert syndrome


Input: The activation of NF-κB was determined in human coronary arterial endothelial cells (HCAECs) because NF-κB modulates the production of many cytokines and the expression of adhesion molecules.

NF-κB

adhesion


Input: In order to test this hypothesis, we investigated the relationship between BDNF Val66Met polymorphism and aggressive behaviour in a population of schizophrenic patients.

BDNF

aggressive behaviour


Input: These results would therefore favor epitope-directed, rather than TCR-targeted, approaches to therapy of MOBP-associated pathogenic autoimmunity.

MOBP

autoimmunity


Input: Nephrogenic systemic fibrosis (NSF) is a generalised fibrotic disorder occurring in certain individuals with renal insufficiency exposed to gadolinium-based contrast agents (GdBCA) for MRI.

MRI

renal insufficiency


Input: SOCS3, but not SOCS2, was also upregulated in a chronic eosinophilic leukemia bearing PCM1-JAK2, highlighting its role as a central signalling target of JAK2 translocation neoplasia.

chronic eosinophilic leukemia


Input: Our results suggest that recruitment of CrkII and activation of Rho signalling are responsible for EphA3-mediated cell rounding, blebbing and de-adhesion, and that ephrin-A5-mediated receptor clustering and EphA3 tyrosine kinase activity are essential for this response.

CrkII

adhesion


Input: We found several novel, as well as known, GCH1 mutations in Japanese patients with DYT5 dystonia.

DYT5 dystonia

DYT5 dystonia


Input: Type IIA von Willebrand disease (vWD) results from abnormalities in von Willebrand factor (vWF) characterized by absence of plasma high molecular weight (HMW) vWF multimers.

HMW

abnormalities


Input: We will cover the preliminary laboratory studies and rationale for a clinical trial, which is based on the treatment of the high rate of respiratory failure in the early-onset patients receiving ERT.

ERT

respiratory failure


Input: With the exception of HSPA4L, HSPA12A and HSPB8, members of the HSP family, including HSPH1, HSPBP1, HSPA1A, HSPA1B, HSPA1L, HSPA2, HSPA4, HSPA5, HSPA8, HSPA9, HSPAA1, HSPAB1, HSPA14, HSPB11, HSPA13, HSP90B1 and HSPBAP1, were all overexpressed in tumour tissues (all P < 0. 001).

tumour


Input: In this study, our goal was to investigate whether a common SNP,-866G/A (rs659366), in the uncoupling protein 2 (UCP2) gene could influence weight reduction and body composition under sibutramine therapy in an obese Taiwanese population.

weight reduction


Input: Our data implicate PDK-1 and downstream components of the PDK-1 signaling pathway as promising therapeutic targets for the treatment of breast cancer.

breast cancer

breast cancer


Input: of the Streptococcus dysgalactiae subspecies equisimilis strain RE378, which was isolated from a patient suffering from multiple organ failure due to septicaemia, into both hind footpads of human CD46-expressing transgenic (Tg) mice.

multiple organ failure


Input: We report here that B27 transgenic rats raised in a germfree environment do not develop inflammatory intestinal or peripheral joint disease, whereas the skin and genital inflammatory lesions are unaffected by the germfree state.

joint disease


Input: Seizure-induced increases in p75NTR protein and mRNA were detected in hippocampus, piriform cortex, and entorhinal cortex.

Seizure

Seizure


Input: This study demonstrates that PAR-1 contributes to the development of skin fibrosis and we suggest that PAR-1 potentiates the fibrotic response mainly by inducing fibroblast proliferation and ECM production.

ECM

fibrosis


Input: To determine the cause of the induction of ARF4L gene expression after transient ischemia, we examined the changes in ARF4L mRNA expression in HEK 293 cells under hypoxic conditions compared with HSP70.

hypoxic


Input: We report that the histone demethylase jumonji domain containing protein 2C (JMJD2C) selectively interacts with HIF-1α, but not HIF-2α, and that HIF-1α mediates recruitment of JMJD2C to the hypoxia response elements of HIF-1 target genes.

hypoxia


Input: The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ.

GNAQ

Sturge-Weber syndrome

GNAQ

Sturge-Weber syndrome


Input: Response gene to complement 32, a novel hypoxia-regulated angiogenic inhibitor.

Response gene to complement 32

hypoxia


Input: p21 protein expression was not different (P = 0. 97) between the fibroadenoma and the adjacent normal mammary tissue samples.

fibroadenoma


Input: Recently, mutations were found in patients with TRMA in a thiamine transporter gene (SLC19A2).

TRMA

TRMA


Input: This review will discuss the use of transcriptional profiling of breast cancer in tumors from both human patients and GEM models to improve prognostic measures, examine mechanisms of tumor initiation and progression, identify novel therapeutic targets, and improve pre-clinical testing for drug development.

GEM

tumor initiation


Input: Thus, the reduced viremia and slow rate of CD4 decline that characterize HIV-2 infection seem to be unrelated to coreceptor availability.

viremia


Input: Both cardiac systolic and diastolic function and myocardial fibrosis in SHRs was improved significantly by the IL-17RA PLAD.

myocardial fibrosis


Input: Mapping and sequence analyses show that alternative transcripts of the hREC2 gene, including novel isoforms identified in testis and uterus, are not interrupted by the translocation.

translocation


Input: Thus, increased sensitization and up-regulation of TRPV1 constitutes a potential mechanism by which TNFalpha mediates inflammatory hyperalgesia and pain.

TNFalpha

hyperalgesia

TNFalpha

hyperalgesia


Input: The PP was calculated by subtraction of diastolic blood pressure (DBP) from systolic blood pressure (SBP).

DBP

systolic blood pressure


Input: Since the protein is a key player in actin dynamics, our data encourages further studies concerning the exact role of Abi1 in actin reorganization upon enhanced KRAS/PI3K signalling during colonic tumorigenesis.

tumorigenesis


Input: In summary, we present an extremely rare case of familial central diabetes insipidus in monozygotic Brazilian twins with a seemingly common missense mutation in the AVP gene.

AVP

central diabetes insipidus

AVP

central diabetes insipidus


Input: Several in vitro and in vivo studies have shown that the homo-tetramerization domain of ETO, the nervy homology region 2 (NHR2), is essential for RUNX1/ETO oncogenic activity.

ETO

nervy


Input: Using linkage analysis in 148 Chinese hypertensive families, we identified a region of linkage with systolic blood pressure (SBP) and diastolic blood pressure (DBP) that consisted of a 10. 6-cM interval defined by markers D8S1145, D8S261, and D8S282 on chromosome 8, which maps between 31 to 41. 6 cM from the 8p-telomere contained LPL gene, with statistically significant p values for the marker D8S261 (p = 0. 0021 for SBP, and p = 0. 0395 for DBP).

DBP

systolic blood pressure


Input: While there was no ethnic difference in docetaxel and doxorubicin pharmacokinetics, ethnic difference in docetaxel-(ANOVA, P = 0. 001) and doxorubicin-induced (ANOVA, P = 0. 003) leukocyte suppression was observed, with Chinese and Indians experiencing greater degree of docetaxel-induced myelosuppression than Malays (Bonferroni, P = 0. 002, P = 0. 042), and Chinese experiencing greater degree of doxorubicin-induced myelosuppression than Malays and Indians (post hoc Bonferroni, P = 0. 024 and 0. 025).

ANOVA

myelosuppression


Input: Biosynthetic labeling and immunoelectron microscopy reveal a predominant localization of SI in the endoplasmic reticulum (ER) similar to phenotype I of CSID.

SI

CSID

SI

CSID


Input: Expression of p27 and MAPK proteins involved in all-trans retinoic acid-induced apoptosis and cell cycle arrest in matched primary and metastatic melanoma cells.

metastatic melanoma


Input: Since then, mutations in several other genes have been identified for FTD with parkinsonism, including chromosome 9 open reading frame 72 (C9ORF72), chromatin modifying protein 2B (CHMP2B), valosin-containing protein (VCP), fused in sarcoma (FUS) and transactive DNA-binding protein (TARDBP).

VCP

sarcoma


Input: Myocardial infarction, caused by ligating the left anterior descending coronary artery, significantly decreased the DNA binding activity of GATA-4 at day 1, whereas at 2 weeks the GATA-4 DNA binding was significantly upregulated.

Myocardial infarction

Myocardial infarction


Input: Since it is still unclear whether CD40 ligation drives neoplastic B-cells to apoptosis or not, we assessed the mRNA expression of FLICE, FAS, FADD and TRADD-important components of apoptosis machinery, using real-time PCR in acute lymphoblastic leukemia cells before and after CD40 and IL-4 stimulation.

TRADD

acute lymphoblastic leukemia


Input: We enrolled a total of 292 patients with chronic HBV infection (111 with chronic hepatitis, 95 with liver cirrhosis and 86 with HCC) and 107 healthy individuals who recovered from HBV infection.

HCC

chronic hepatitis


Input: These data provide evidence for the importance of both IL-8 and ENA-78 in the development and perpetuation of H. pylori-associated gastritis.

gastritis


Input: Our results indicate that loss of Rb2 expression, mostly by transcriptional down-regulation, may be associated with the development and dedifferentiation of most endometrial and a subset of mammary carcinomas.

dedifferentiation


Input: Significant levels of TNF (578 +/-917 pg/ml versus 24 +/-29 pg/ml) (p = 0. 01), GM-CSF (24 +/-41 pg/ml versus less than 8 pg/ml) (p = 0. 02), and IL-6 (225 +/-327 pg/ml versus 7 +/-12 pg/ml) (p = 0. 01), but not IL-1 alpha or IL-4, were detected in the bronchoalveolar lavage fluid (BALF) of patients with symptomatic compared with BALF of patients with asymptomatic asthma.

asymptomatic


Input: Overexpression of serum response factor restores ocular dominance plasticity in a model of fetal alcohol spectrum disorders.

serum response factor

fetal alcohol spectrum disorders

serum response factor

fetal alcohol spectrum disorders


Input: We found that the six previously characterised translocation partners of ETV1 only accounted for 34% of ETV1 re-arrangements (eight out of 23) in this series, with fusion to the androgen-repressed gene C15orf21 representing the commonest event (four out of 23).

translocation


Input: This anti-PCa response was accompanied with a significant decrease in Sirt1 in TRAMP prostate.

PCa

PCa


Input: We sequenced KIF7 in five suspected ACLS cases, one fetus and four patients, based on facial dysmorphism and brain anomalies.

ACLS

ACLS


Input: Finally, despite impaired Rel-A translocation, T cells were capable of transcribing IL-2.

translocation


Input: For example, in lymph node specimens, the median cyclin D1/GAPDH ratio was 147 (range, 94-160) in MCL, compared with 8. 6 (range, 4-18) in chronic lymphocytic leukemia/small lymphocytic lymphoma; 5. 8 (range, 1. 8-24) in follicular lymphoma; 4. 8 in one case of marginal zone lymphoma; and 20. 2 (range, 5. 8-44) in reactive specimens.

GAPDH

chronic lymphocytic leukemia/small lymphocytic lymphoma


Input: The aim of this study was to investigate the effects of smoking, polymorphisms of XRCC1 codons 194 and 399, and age on levels of basal DNA damage (as measured by an alkaline comet assay) on mononuclear cells in 122 healthy Japanese workers.

smoking


Input: Our results demonstrated that smoking, age and VCM exposure and XRCC1 (P = 0. 03), CYP2E1 (P = 0. 04), and ALDH2 (P = 0. 08) were significantly associated with an increased SCE frequency.

smoking


Input: Tight junctions (TJs) are mainly composed of claudins, occludin, and tight junction adhesion molecules (JAM).

occludin

adhesion


Input: These results combine with previous data from small deletions to suggest the gene GTF2IRD1 is associated with WS facies and VSC, and that GTF2I may contribute to WS social behaviors including increased gaze and attention to strangers.

facies


Input: This supports the role of methylation in BRCA2 contributing to the pathogenesis of sporadic ovarian cancer.

sporadic


Input: ] ryanodine binding sites (Bmax) and the expression levels of ryanodine receptor (RyR) mRNA and calcium-adenosine triphosphatase (Ca2 +-ATPase) mRNA in atrial myocardial tissue from 13 patients with AF due to mitral valvular disease (MVD) and 9 patients with normal sinus rhythm (NSR).

mitral valvular disease


Input: The post-stress increase in Nt-pro-BNP is related to myocardial ischemia and to postischemic left-ventricular dysfunction, and accurately predicts the presence or absence of myocardial perfusion defects.

BNP

myocardial ischemia

BNP

myocardial ischemia


Input: An initially identified missense mutation was found to be extremely rare in other patient cohorts; however, a recent report again argued for an association of two intronic MLC1 single nucleotide polymorphisms (SNPs) with schizophrenia and bipolar disorder.

bipolar disorder

bipolar disorder


Input: Application of our improved PRINS protocol facilitated fine-mapping the translocation breakpoints within 4q35. 1 and 22q11. 2, and permitted rapid cloning and analysis of translocation junction fragments.

PRINS

translocation


Input: Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.

glutaryl-coenzyme A dehydrogenase

glutaric acidemia type I

glutaryl-coenzyme A dehydrogenase

glutaric acidemia type I


Input: In humans, we identified recessive loss-of-function DYX1C1 mutations in 12 individuals with PCD.

PCD

PCD


Input: To investigate the effects of electroacupuncture (EA) on the oestradiol level, bone mineral density and osteoprotegerin ligand (OPGL) expression, and to explore whether EA might be a complementary method to prevent and treat osteoporosis.

OPGL

bone mineral density


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

depression

depression


Input: IL-4 operates through the IL-4 receptor (IL-4R, a heterodimer of IL-4Ralpha and either gammac or IL-13Ralpha1) and IL-13 operates through IL-13R (a heterodimer of IL-4Ralpha and IL-13Ralpha1) to promote IgE synthesis and IgE-based mucosal inflammation which typify atopy.

atopy


Input: Glucocorticoid-inducible genes GILZ and SGK-1 might be promising candidate markers for hippocampal volume changes relevant for diseases like MDD.

MDD

MDD


Input: Myeloid Tgfbr2 deficiency markedly decreased the production of interleukin-6 and tumor necrosis factor-α, two proinflammatory cytokines that are essential for colonic tumorigenesis; in addition, a marked increase in the proportions of Foxp3 + CD4 + regulatory T cells was observed in the colonic lamina propria in the initial stage of CAC.

tumorigenesis


Input: The array-derived candidates including fibrinogen gamma peptide (FGG, at 4q31. 3), vitamin D binding protein (at 4q13. 3), fibrinogen-like 1 (FGL1, at 8p22), metallothionein 1G (MT1G, at 16q12. 2) and alpha-2-plasmin inhibitor (SERPINF2, at 17p13) were confirmed by quantitative reverse transcription-polymerase chain reaction, which also indicated a more profound downregulation of FGL1, MT1G and SERPINF2 relative to reported tumor-suppressor genes, such as DLC1 (8p22), E-cadherin (16q22. 1) and TP53 (17p13. 1).

fibrinogen


Input: Here, we demonstrate that MELK depletion by shRNA diminishes the growth of GSC-derived mouse intracranial tumors in vivo, induces glial fibrillary acidic protein (+) glial differentiation of GSCs leading to decreased malignancy of the resulting tumors, and prolongs survival periods of tumor-bearing mice.

GSC

intracranial tumors


Input: The UCP2/UCP3 genetic locus may play a role in childhood body weight.

body weight


Input: Murine CASK is disrupted in a sex-linked cleft palate mouse mutant.

CASK

cleft palate

CASK

cleft palate


Input: Pheochromocytomas (PCCs)/paragangliomas (PGLs) are neuroendocrine tumours that may cause arrhythmia and death if untreated.

PGLs

arrhythmia


Input: Basal cell carcinomas in mice overexpressing Gli2 in skin.

Basal cell carcinomas

Basal cell carcinomas


Input: We investigated the relevance of the mammalian target of rapamycin (mTOR)/AKT and hypoxic pathways as novel immunohistochemical markers of malignancy.

mammalian target of rapamycin

hypoxic


Input: Children with AMC or congenital heart disease, or both, and motor neuron disease should undergo testing for SMN (T) deletion.

AMC

congenital heart disease


Input: Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction.

ITPA

hemolytic anemia

ITPA

hemolytic anemia


Input: It protects against inflammation and oxidative stress by inducing IRAK3.

inflammation


Input: Combined use of in situ hybridization and unlabeled antibody peroxidase anti-peroxidase methods: simultaneous detection of type I procollagen mRNAs and factor VIII-related antigen epitopes in keloid tissue.

type I procollagen

keloid


Input: Our results was a previous study, which suggested that DNMT1 gene polymorphisms in exons may provide valuable information for predicting the sporadic IDC risk and may be associated with prognosis factors such as PgR and p53 status in Chinese Han women in the Heilongjiang Province.

sporadic


Input: Inhibition of cyclin D1 proteolysis has been implicated as a causative factor leading to its overexpression in breast and esophageal carcinomas; however, the contribution of stable cyclin D1 to the genesis of such carcinomas has not been evaluated.

cyclin D1

esophageal


Input: Recurrent alterations at relapse included mutations in the putative CHD5 neuroblastoma tumor suppressor, chromosome 9p losses, DOCK8 mutations, inactivating mutations in PTPN14 and a relapse-specific activity pattern for the PTPN14 target YAP.

neuroblastoma

neuroblastoma


Input: Second, chromosome 17p deletions and p53 gene mutations are found frequently in sporadic gliomas of all malignancy stages.

p53 gene

sporadic


Input: Direct sequencing of genomic DNA samples of 11 unrelated Russian AIP patients, 32 of their relatives and 50 healthy controls from northwestern Russia including Saint Petersburg revealed nine mutations in the HMBS gene.

HMBS

AIP

HMBS

AIP


Input: Our knowledge primarily comes from studies of the impact on pregnancy outcome of HLA class II alleles known to restrict CD4 T cell mediated anti-HY responses among 358 secondary recurrent miscarriage (SRM) patients and 203 of their children born prior to the miscarriages and investigation of these HLA alleles in 8 patients with recurrent severe placental abruptions.

SRM

recurrent miscarriage


Input: These findings demonstrate a novel role for miR-21 in regulating astrocytic hypertrophy and glial scar progression after SCI, and suggest miR-21 as a potential therapeutic target for manipulating gliosis and enhancing functional outcome.

gliosis


Input: Surface expression of very late antigen-4 [VLA-4] and LFA-1 was decreased and the production of the type 2 cytokines IL-5 and IL-13 was augmented by the presence of IL-4 during stimulation of CD8 + T cells from mild atopic asthmatics.

mild


Input: The ACT TT genotype was over-represented (P = 0. 025) in patients with early onset of sporadic AD.

ACT

sporadic


Input: In this study, to address this question, serial sections of 11 glioblastomas and 10 anaplastic astrocytomas were immunostained for HIF-1α, glucose transporter (GLUT)-1, carbonic anhydrase (CA) IX (i. e., hypoxia-related markers), Ki67 (proliferation), phosphorylated ribosomal protein S6 [p-rpS6; mammalian target of rapamycin (mTOR) activity] and CD34 (microvascular endothelium).

mammalian target of rapamycin

hypoxia


Input: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare disorder caused by mutations in the autoimmune regulator gene (AIRE) and characterized by a variable combination of organ-specific autoimmune diseases.

autoimmune regulator

APECED

autoimmune regulator

APECED


Input: In familial amyloidotic polyneuropathy (FAP), a neurodegenerative disorder characterized by extracellular deposition of mutated transthyretin (TTR), activation of heat shock factor 1-HSF1-by extracellular TTR deposition has been shown as well as induction of the expression of heat shock proteins, HSP27 and HSP70.

polyneuropathy


Input: In addition, using CESH, it was possible to identify an ERBB2 expression signature, comprising four chromosomal regions with potential significance in the aggressive behaviour of ERBB2-positive IDC-NOS.

aggressive behaviour


Input: Moreover, a 3-wk infusion of GM-CSF in mice increased hypoxia-induced PAH, in association with increased perivascular macrophages and muscularized distal arteries, whereas blockade of GM-CSF repressed these features.

GM-CSF

hypoxia


Input: Impaired SOD2 activity in murine hematopoietic cells affects erythroid development, resulting in anemia characterized by intra-mitochondrial iron deposition, reticulocytosis and shortened red cell life span.

anemia

anemia


Input: Cutting edge: retrobulbar inflammation, adipogenesis, and acute orbital congestion in a preclinical female mouse model of Graves' orbitopathy induced by thyrotropin receptor plasmid-in vivo electroporation.

thyrotropin receptor

inflammation


Input: Clopidogrel pharmacokinetics and pharmacodynamics vary widely despite exclusion or control of polymorphisms (CYP2C19, ABCB1, PON1), noncompliance, diet, smoking, co-medications (including proton pump inhibitors), and pre-existent variability in platelet function.

smoking


Input: In atopic asthma, the frequency of IL-10 + IFN-gamma-IL-4-CD4 + cells in the severe group was significantly lower than that in the mild group.

mild


Input: Serum levels of BAFF and IgA1 as well as levels of TLR9 mRNA and protein in PMBCs were significantly higher in patients with IgAN compared with patients with minimal glomerular abnormalities (P < 0. 05, P < 0. 01, P < 0. 01 and P < 0. 01, respectively) and normal controls (P < 0. 01, P < 0. 01, P < 0. 05 and P < 0. 01, respectively).

BAFF

abnormalities


Input: These findings suggest that the effects of pitavastatin on load-induced cardiac hypertrophy and fibrosis are independent of its cholesterol-lowering action and may be mediated, at least in part, through inhibition of RhoA-ERK-SRF signalling.

SRF

cardiac hypertrophy


Input: To further study the roles of partial AZFc deletions in spermatogenic impairment and the relationship between complete and partial AZFc deletions, these deletions were typed and quantitative analysis of DAZ gene copies and Y chromosome haplogrouping were performed for seven pedigrees of complete AZFc deletion carriers, comprising 296 infertile and 280 healthy Chinese men.

DAZ

infertile


Input: These results suggest that more than half of the genes induced by cagPAI-positive H pylori depend on NF-kappaB and ERK signaling activation, and these pathways may play a role in the gene expression induced by host-bacterial interaction which may associate with H pylori-related gastro-duodenal diseases.

ERK

duodenal diseases


Input: One of the genetic factors is the-323Ins10 polymorphism in the promoter region of the factor VII gene, which is strongly related to FVII: C, and thus may be associated with ischaemic heart disease.

factor VII

ischaemic heart disease


Input: Neither pathogen burden nor IL6 genotype did contribute to the variation of plasma IL-6 levels, whereas smoking, body-mass index, hypertension, case-control status, and age were determinants of the plasma IL-6 concentration.

smoking


Input: Response rate was significantly higher in women, non-smokers, in mutation carriers than in wild type carriers, in EGFR-trisomy/polysomy carriers and HER2-trisomy/polysomy carriers.

EGFR

trisomy


Input: Interchromosomal insertional translocation at Xq26. 3 alters SOX3 expression in an individual with XX male sex reversal.

sex reversal


Input: Moreover, in serous carcinoma samples taken from ovarian cancer patients who responded well to chemotherapy, strong ALK7 staining and low miR-376c expression was detected.

serous carcinoma


Input: CYP1A1 mRNA expression level was significantly higher in residents with sinus tachycardia or bradycardia than in residents with normal heart rate (1. 47 & #215; 10 (-3) (0. 87 & #215; 10 (-3), 2. 77 & #215; 10 (-3)) vs. 1. 24 & #215; 10 (-3) (0. 64 & #215; 10 (-3), 2. 31 & #215; 10 (-3)), P & lt; 0. 05).

bradycardia

bradycardia


Input: The Q576R polymorphism did not affect proximal signal transducer and activator of transcription (STAT) 6 activation, but synergized with STAT6 in a gene target-and tissue-specific manner to mediate heightened expression of a subset of IL-4-and IL-13-responsive genes involved in allergic inflammation.

inflammation


Input: These preclinical results define glucocorticoid signaling as a contributing factor to both episodic memory loss and early synaptic failure in this AD mouse model, and suggest that glucocorticoid receptor targeting strategies could be beneficial to delay AD onset.

glucocorticoid receptor

memory loss


Input: This article reviews the SDHC mutations described to date and discusses possible mechanisms of tumorigenesis.

SDHC

tumorigenesis


Input: In contrast, neither unconjugated B43 monoclonal antibody nor the anti-T-cell immunotoxin G17. 2 (anti-CD4)-PAP decreased the incidence of paraplegia or improved EFS.

paraplegia


Input: In the present study, the expression of HOXB8 in gastric cancer tissues and influence of HOXB8 on gastric cancer cellular were evaluated.

gastric cancer


Input: Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.

Bartsocas-Papas syndrome

Bartsocas-Papas syndrome


Input: The results illustrate downregulation of proteins involved in the endoplasmic reticulum stress response (HYOU1, HSPA5, PDIA3, and P4HB) and Nrf2-ARE signaling (NQO1 and HMOX1) in SCA17 lymphoblastoid cells.


Input: Gene therapy of RA targets mainly the players of inflammation or articular destruction: TNF-alpha or IL-1 blocking agents (such as anti-TNF-alpha monoclonal antibodies, soluble TNF-alpha receptor, type II soluble receptor of IL-1, IL-1 receptor antagonist), anti-inflammatory cytokines (such as IL-4, IL-10, IL-1), growth factors.

inflammation


Input: Response to oral medications may be incomplete, such that deep brain stimulation (DBS) surgery to the globus pallidum interna (GPi) or ventral intermediate thalamic nucleus (VIM) may be considered.

DBS

globus


Input: Surprisingly, trisomy for Aml1/Runx1 is not required for megakaryocyte hyperplasia and myelofibrosis, suggesting that trisomy for one or more of the remaining genes can promote this disease.

hyperplasia


Input: Here, we report six cases of inherited TBRS caused by novel DNMT3A germline mutations.

TBRS

TBRS


Input: Only a Thr341--> Lys substitution, residing in a region of gp91-phox involved in flavin adenine dinucleotide (FAD) binding, supported a normal translocation.

translocation


Input: Enzyme replacement therapy (ERT) for Gaucher disease is safe and effectively corrects hepatosplenomegaly and hypersplenism; however, thrombocytopenia, may not normalize.

ERT

hepatosplenomegaly


Input: Overproduction of IL-1β by Caspase 1 is the main cause of episodic fever and inflammatory findings in FMF and CAPS.

Caspase 1

episodic fever


Input: In addition, the role of STAT3 activation in NOX1-dependent epithelial cell death was confirmed by using a lung epithelial cell line and in mice exposed to hyperoxia.

hyperoxia


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

NF2 gene

sporadic


Input: Similar studies with somatic cell mutants deficient in some component of cyclic AMP action or metabolism indicated that the depression in purine synthetic rates required G1 arrest and did not result from cell death.

AMP

depression

AMP

depression


Input: We evaluated MYC, FBXW7, and TP53 copy number, mRNA levels, and protein expression in gastric cancer and paired non-neoplastic specimens from 33 patients and also in gastric adenocarcinoma cell lines.

MYC

non-neoplastic


Input: In order to test whether increased NHE1 is causally related to beta (1)-adrenergic-induced hypertrophy, fibrosis, and heart failure, beta (1)-adrenergic receptor transgenic (TG) and wild-type (WT) littermates were treated with a diet containing 6000 ppm of the NHE1 inhibitor cariporide or control chow for 8 months.

fibrosis


Input: To screen for a mutation of the cardiac troponin T gene in two families where there had been sudden deaths without an increase in left ventricular mass but with myocardial disarray suggesting hypertrophic cardiomyopathy.

T gene

left ventricular mass


Input: These findings are consistent with the hypothesis that CD results from haploinsufficiency of SOX9.

CD

CD


Input: In this study, in situ hybridization techniques were used to determine the location of interstitial collagenase and tissue inhibitor of metalloproteinase (TIMP) gene expression in samples from 11 squamous cell carcinomas of the head and neck (particularly the oral cavity) and from non-neoplastic mucosa of the same region.

interstitial collagenase

non-neoplastic


Input: We hereby report a case of isolated COX deficiency manifesting with encephalomyopathy, hydrocephalus and hypertropic cardiomyopathy due to a missense p. R20C mutation in the COX6B1 gene, which encodes an integral, nuclear-encoded COX subunit.

COX deficiency

COX deficiency


Input: SNP in exon 10 (codon 307 and 680) and in the core promoter region (at position-29) of the FSHR gene were analysed by polymerase chain reaction-restriction fragment length polymorphism technique in 150 men representative of the general population, 107 proven fathers, 92 normozoospermic controls, and 215 infertile patients classified according to sperm parameters (38 azoospermia, 53 severe oligozoospermia, 48 moderate oligozoospermia, and 76 slight oligozoospermia).

FSHR gene

infertile


Input: Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families.

Spinocerebellar ataxia 19

Spinocerebellar ataxia 19


Input: Myeloid TGF-β receptor II (Tgfbr2)-deficient mice showed reduced susceptibility to chemically induced colitis-associated tumorigenesis, as evidenced by decreases in number and size of tumors.

tumorigenesis


Input: We examined 10 surgically obtained sacral chordoma tissue samples to determine the expressions of NGF and TrkA and p75 receptors as well as markers of cellular proliferation and apoptosis.

NGF

sacral chordoma


Input: This study investigated 103 cases of HCC (86 cases of HCC-C and 17 cases HCC-NC including tumorous and nontumorous tissues) together with 10 cases of chronic hepatitis and 10 cases of pure cirrhosis as control groups.

HCC

chronic hepatitis


Input: We examined the DNA methylation status of 12 tumor-related genes (NF2, RB1, p14 (ARF), p16 (INK4a), p73, TIMP-3, MGMT, DAPK, THBS1, caspase-8, TP53, and GSTP1) in 44 sporadic and/or NF2-associated schwannomas using methylation-specific PCR.

sporadic


Input: In conclusion, we found a marginal association between the NFKB1-94 ins/delATTG WW genotype and the increased psoriasis vulgaris risk and the association was more evident in the subgroups of onset age < or = 40, PASI > 20, male patients and sporadic patients in Chinese.

sporadic


Input: Plasmin converted from plasminogen by plasminogen activators plays an essential role in amplification of psoriasiform skin inflammation in mice, and targeting plasmin receptor--annexin II--may harbor therapeutic potential for the treatment of human psoriasis.

annexin II

skin inflammation


Input: However, no genomic DNA fragment aberration of either MSH2 or MLH1 gene was uncovered from 20 sporadic CRC.

sporadic


Input: Mutations in several genes that may represent low-frequency driver mutations were identified, including a protection of telomeres 1 (POT1) mutation that resulted in exon skipping and disruption to the single-stranded DNA-binding domain, which may contribute to increased genomic instability and the observed high mutation rate in one tumor.

genomic instability


Input: When we looked for those genes progressively modulated through the evolving stages of monoclonal gammopathies, eight snoRNA showed a progressive increase while APAF1, VCAN and MEGF9 exhibited a progressive downregulation.

monoclonal gammopathies


Input: Pin1 is a prolyl-peptidyl cis/trans isomerase that can regulate the dephosphorylation of the amyloid and tau proteins.

amyloid


Input: We sequenced all genes of mitochondrial tRNAs of a patient with chronic progressive external ophthalmoplegia with 5% ragged red fibres and 15% COX-negative fibres but without macrorearrangements of mitochondrial DNA (mtDNA).

COX

chronic progressive external ophthalmoplegia


Input: Mechanistically, Lxn inhibited the nuclear translocation of Rps3 upon radiation, resulting in abnormal mitotic spindle formation and chromosome instability.

Lxn

chromosome instability

Lxn

chromosome instability


Input: We show here that heterozygous mutations in the gene MYCN are present in Feingold syndrome.

MYCN

Feingold syndrome

MYCN

Feingold syndrome


Input: Hypermethylation of the hMLH1 gene promoter, polymorphisms of the GSTM1, GSTT1, CYP1A1, CYP2E1, ALDH2 and L-myc genes, microsatellite instability and mutations of p53 and Ki-ras genes were investigated.

microsatellite instability


Input: The present study examined the potential association of IL-6-174 G/C polymorphism, together with obesity and smoking, with the presence of CVD in RA patients.

smoking


Input: We examined dysbindin-1 mRNA in the hippocampal formation of patients with schizophrenia and found reduced expression in dentate granule and polymorph cells and in hippocampal field CA3, but not in CA1.

schizophrenia


Input: In this study, we investigated the effect of increased expression of glial cell line-derived neurotrophic factor (GDNF) in three models of oxidative damage-induced retinal degeneration.

glial cell line-derived neurotrophic factor

retinal degeneration

glial cell line-derived neurotrophic factor

retinal degeneration


Input: To elucidate the mechanisms of variations to MTX outcome, we investigated MTHFR, DHFR, TYMS, and SLC19A1 gene expression profiles by quantifying the mRNA level of the genes involved in folate metabolism to MTX response in laryngeal cancer cell line (HEP-2).

DHFR

laryngeal cancer


Input: Nerve growth factor, pain, itch and inflammation: lessons from congenital insensitivity to pain with anhidrosis.

Nerve growth factor

itch


Input: Six ameloblastomas (five follicular ameloblastomas and one plexiform ameloblastoma) and three malignant odontogenic tumors (one metastasizing ameloblastoma, one ameloblastic carcinoma, and one primary intraosseous odontogenic carcinoma) were investigated for CTNNB1 expression and CTNNB1 mutation.

ameloblastic carcinoma


Input: Four single nucleotide polymorphisms in the central serotonin system and the renin-angiotensin system related genes previously found to be associated with suicide, alcohol dependence or depression were genotyped.

renin

alcohol dependence

renin

alcohol dependence


Input: Moreover, treatment with the CTSB siRNA exerted an inhibitory effect on migration in OC2 and CAL27 oral cancer cells.

oral cancer


Input: Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.

Troyer Syndrome

Troyer Syndrome


Input: Overexpression of AFT-3 also enhanced caspase-3 activity in both HOSE and OVCA cells, whereas ectopic expression of caveolin-1 and DLC-1 only activated this enzyme in OCa cells.

OCa

OCa


Input: Low MBL-associated serine protease 2 (MASP-2) levels correlate with urogenital schistosomiasis in Nigerian children.

serine protease 2

urogenital schistosomiasis


Input: To analyze the effects of the mutations in the beta3-adrenoceptor (beta3-AR) gene and/or uncoupling protein3 (UCP3) gene promoter on body fat distribution and glycemic control after mild weight reduction in overweight-obese subjects with coronary artery disease (CAD) or metabolic syndrome.

overweight


Input: Lysyl oxidase is associated with the epithelial-mesenchymal transition of gastric cancer cells in hypoxia.

Lysyl oxidase

hypoxia


Input: FRNK negatively regulates IL-4-mediated inflammation.

inflammation


Input: Vehicle and untreated NTN exhibited heavy proteinuria and glomerular thrombosis at 24 h with P-selectin and fibrin immunostaining within capillaries, glomerular macrophage and T cell infiltration, activation of JNK and p38 MAPK signalling, and upregulation of glomerular mRNA levels of pro-inflammatory molecules (TNF-α, NOS2, MMP-12 and CCL2).

JNK

heavy proteinuria


Input: Patients with early-stage single-nodule HCC treated with RFA were included, and tissue expression of miR-34a were assessed by quantitative reverse-transcription polymerase chain reaction.

HCC

nodule


Input: although VIN is still a premalignant disease, it already displays several hallmarks of cancer.

VIN

cancer


Input: It is completely unresolved, whether coding mononucleotide repeat (cMNR) gene mutations in these mice can contribute to intestinal tumorigenesis and whether MMR-deficient mice are a suitable molecular model of human microsatellite instability (MSI)-associated intestinal tumorigenesis.

MMR

tumorigenesis


Input: In lymph node draining sites of immunization, MMF limited both enlargement and the increased proportion of CD3 +, CD4 +, and CD8 + T cells observed in untreated HN and CFA controls.

enlargement


Input: Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.

ANK

Autosomal dominant craniometaphyseal dysplasia

ANK

Autosomal dominant craniometaphyseal dysplasia


Input: Within 10 min of ischemia, eukaryotic (eIF) 4E binds to its negative regulator, eIF4E-binding protein-1 (4E-BP1), but the levels of 4E-BP1 are insufficient to disrupt cap-dependent mRNA initiation complexes.

ischemia


Input: The asthma susceptibility correlated significantly with IL-10 promoter gene-1082 polymorphism [OR (95% CI) 1. 26 (1. 02, 1. 55) for AA vs. AG + GG] and-592 polymorphism [OR (95% CI) 1. 12 (1. 07, 1. 34) for AC + AA vs. CC] (both P < 0. 05), but not with-819 polymorphism (P > 0. 05).

asthma susceptibility


Input: TL1A production was localized to the intestinal lamina propria in macrophages and CD4 (+) and CD8 (+) lymphocytes from CD patients as well as in plasma cells from ulcerative colitis patients.

ulcerative colitis


Input: Germ-line PTEN mutations were detected in all of five families with both breast cancer and CD, in one family with juvenile polyposis syndrome, and in one of four families with breast and thyroid tumors.

PTEN

CD

PTEN

CD


Input: Taken together, these results suggest that activated Ki-Ras-mediated signals are involved in the SEK1-JNK pathway through a PKC isotype that is distinct from that involved in MEK1/2-ERK activation in human colon cancer cells and independent of phosphoinositol 3-kinase activation, and the imbalance between ERK and JNK activity caused by activated Ki-Ras may play critical roles in human colorectal tumorigenesis.

tumorigenesis


Input: ], negative [NF], disorganized [DF], excitement [EF] and anxiety/depression [ADF]).

ADF

anxiety


Input: Our results therefore suggest that PTPRZ1 is unlikely to be related to the development of schizophrenia in the Japanese population.

schizophrenia

schizophrenia


Input: We investigated the relationship between the personality traits measured by the Temperament and Character Inventory (TCI) and the C3111T polymorphism of the CLOCK gene in healthy Japanese subjects.

CLOCK gene

personality traits


Input: After organ culture, nasal polyps were stimulated with TGF-beta1 and then treated with TSA.

TSA

nasal polyps


Input: Either GRIN2B or GRIN2A, encoding the NMDA receptor subunits NR2B and NR2A, was found to be disrupted by chromosome translocation breakpoints in individuals with mental retardation and/or epilepsy.

chromosome translocation


Input: H. influenzae requires heme for aerobic growth in vitro and is able to utilize hemoglobin and complexes of heme-hemopexin, heme-albumin, and hemoglobin-haptoglobin and ferritransferrin as sources of iron and heme in vitro.

hemopexin

hemoglobin


Input: Fusion of the ZC3H7B and BCOR genes in endometrial stromal sarcomas carrying an X; 22-translocation.

translocation


Input: The cross-section area of HSP subjects at cervical level C2 was 59. 42 +/-12. 57 mm2 and at thoracic level T9 was 28. 58 +/-5. 25 mm2.

thoracic


Input: Seventeen patients from two families with myoclonus and epilepsy were evaluated clinically and underwent EEG, EMG, jerk-locked averaging, and MRI scanning.

MRI

epilepsy


Input: OBJECTIVE: The objective of this study was to establish whether single-nucleotide polymorphisms (SNPs) in PPARD and PPARGC1A modulate the effect of exercise training on change in aerobic physical fitness and insulin sensitivity and whether they affect mitochondrial function in human myotubes in vitro.

insulin sensitivity


Input: The distributions of the Hp genotypes were as follows: no-retinopathy group: 28. 6% Hp1-1, 35. 7% Hp2-1, and 35. 7% Hp2-2 and proliferative retinopathy group: 22. 6% Hp1-1, 27. 4% Hp2-1, and 50% Hp2-2 (NS).

retinopathy


Input: Multivariate Cox regression identified Notch1 as an independent prognostic factor.

regression


Input: TNAP deficiency, however, may also result in neurological symptoms such as neonatal seizures.

TNAP

neurological symptoms


Input: DNA copy number alterations and PPARG amplification in a patient with multifocal bladder urothelial carcinoma.

PPARG

bladder urothelial carcinoma


Input: In GCA, IFN-gamma functional polymorphisms are associated with clinical manifestations of severity rather than susceptibility to this vasculitis.

IFN

vasculitis


Input: Conversely, excess extracellular Ca2 + entered Ca2 + channels and increased intracellular Ca2 + leading to calpain activation and necrosis.

necrosis


Input: We aimed therefore to determine whether there is a difference between both groups: first, in the expression of the osteoclastogenic and anti-osteoclastogenic cytokines, second, in correlation of these cytokines with bone mineral density (BMD) and levels of bone turnover markers (BTM) and third, in correlation between the expression of these cytokines and osteoclast specific genes and RANK/RANKL/OPG genes.

RANKL

bone mineral density


Input: It was found that elevated alkaline phosphatase and parathyroid hormone levels could be significantly lowered (statistically).

parathyroid hormone

elevated alkaline phosphatase


Input: We report two patients with a distinctive biphenotypic hematologic disorder characterized by lymphoblastic lymphoma (LBL), eosinophilia, and myeloid malignancy and/or hyperplasia associated with a t (8; 13) (p11; q11) chromosomal translocation in both bone marrow and lymph node specimens.

eosinophilia


Input: These results revealed that mutations in CCDC114 are a cause of ciliary dysmotility and PCD and further demonstrate the utility of exome sequencing to identify genetic causes in heterogeneous recessive disorders.

PCD

PCD


Input: Fluorescence in situ hybridization analysis revealed the presence of EWSR1/FLI1 translocation in both histologic distinct components.

translocation


Input: We hypothesized that increased expression of AM in hypoxic cells was the result of excessive AM production with resultant AM receptor down-regulation, surface-membrane protein degradation and that the new specific ACAT inhibitor would reduce AM induction in hypoxia and thus proliferation of cells.

ACAT

hypoxia


Input: Serologic responses to RHAMM were observed in patients with AML (42%), CML (31%), melanoma (83%), renal cell carcinoma (40%), breast cancer (67%), and ovarian carcinoma (50%), but not in HV or patients with autoimmune diseases.

RHAMM

melanoma


Input: The sporadic nature of the SMEI syndrome and the occurrence of SCN1A and GABRG2 mutations in a mild familial phenotype, termed generalized epilepsy with febrile seizure plus complicates genotype-phenotype correlations.

sporadic


Input: To study the role of HOXB13 in colorectal tumorigenesis, we evaluated the expression of HOXB13 in 53 colorectal tumours originated from the distal left colon to rectum with their matching normal tissues using quantitative RT-PCR analysis.

tumorigenesis


Input: These immunologically' biphenotypic' BCP-cell lines are generally TdT + CD10 + CD13 + CD19 + CD22 + CD34 + and carry the Philadelphia (Ph) translocation.

BCP

translocation


Input: However, there was no correlation between expansion of total CD56 (-)/CD16 (+) NK cells or the distinct subpopulations and viral load or CD4 cell count.

viral load


Input: Bartter syndrome (BS) Type IV, associated with a G47R mutation in the BSND gene, is known to result in a mild renal phenotype.

BSND gene

mild


Input: Samples from eight patients with nonclassic 21-hydroxylase deficiency who had the haplotype HLA-B14, DR1 contained a hybridizing fragment 3700 base pairs long, indicating the presence of the valine-281 mutation in the CYP21B gene.

21-hydroxylase deficiency

21-hydroxylase deficiency


Input: However, lumican and biglycan showed strong immunoreactivity in mild and severe persistent allergic nasal mucosa, which was verified by Western blotting.

biglycan

mild


Input: The human amelanotic melanoma cell line, C32, is known to express CD36 and has been as a model for studying TSP binding.

amelanotic melanoma


Input: We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1.

angiotensin converting enzyme

renal tubular dysgenesis

angiotensin converting enzyme

renal tubular dysgenesis


Input: PAR-1 was significantly overexpressed in atypical nevi and melanomas in comparison with common melanocytic nevi.

atypical nevi


Input: S100P expression showed to be significantly correlated with clinical staging, lymph node metastasis and recurrence.

lymph node metastasis


Input: Dectin-1 is a C-type lectin receptor critical in anti-fungal immunity, but Dectin-1 has not been linked to regulation of sterile inflammation or oncogenesis.

inflammation


Input: Lung ADCs lacking receptor tyrosine kinase-Ras-Raf pathway alterations had mutations in SOS1, VAV1, RASA1, and ARHGAP35.

ADC

ADC


Input: 20 microgram TRH injected bilaterally into the caudate-putamen, tuberculum olfactorium, nucleus accumbens, amygdala, lateral ventricles, midbrain or cerebral cortex failed to induce any increase in locomotor activity (measured using photocells), although other behavioural changes were observed after each injection, and included body shakes, limb tremor, repetitive head and limb movements, biting, scratching and an alert appearance.

TRH

limb tremor

TRH

limb tremor


Input: These observations suggest that epigenetic changes in the MLH1 locus account for MSI in most cases of sporadic endometrial cancers and provide additional evidence that the MSH2 gene may contribute substantially to inherited forms of endometrial cancer.

MSH2 gene

sporadic


Input: Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency.

ficolin-3 deficiency

ficolin-3 deficiency


Input: The increased IL-2 release from Th1 cells in COPD might contribute to airway inflammation in disease exacerbations.

inflammation


Input: Here, we provide mechanistic insight into the role of FGFR4-mediated signalling for the aggressive behaviour of HCC cells.

HCC

aggressive behaviour


Input: Unselected patients (108) who underwent curative colorectal resection for sporadic colorectal cancer in a three-year period were evaluated for MSI using 6 microsatellite markers, and for the presence of p27, p53, Fhit, Mlh1 and Msh2 proteins by means of immunostaining.

sporadic


Input: 15-PGDH/15-KETE plays a role in hypoxia-induced pulmonary vascular remodeling through ERK1/2-dependent PAR-2 pathway.

vascular remodeling


Input: It may involve direct effects of inhibiting ATPase function, indirect effects by inducing the heat-shock-response resulting in upregulation of other chaperone proteins like HSP70 or a combination of both.

shock


Input: The contribution of endogenous and recombinant transient receptor potential vanilloid type 6 (TRPV6) channels to Ca2 + entry across the plasma membrane was studied in the human lymph node prostate cancer cell line (LNCaP).

prostate cancer


Input: Receptor for advanced glycation end products (RAGE) and connective tissue growth factor (CTGF) play a key role in diabetic myocardial fibrosis, and peroxisome proliferator-activated receptor-gamma (PPAR-gamma) activation has been reported to reduce RAGE and CTGF expression.

CTGF

myocardial fibrosis


Input: In OSCC samples, 65% of those with deep tumour invasion (adventitia) and 63% samples with metastasis revealed p300 promoter methylation (p & lt; 0. 05). p300 mRNA expression was observed in 19. 0% (4/21) of methylated tumours and 58. 6% (17/29) of unmethylated tumours (p = 0. 005).

OSCC

OSCC


Input: Fluorescence in situ hybridization showed ALK rearrangements in nine cases (47%), aneuploidy in three cases (16%), and no rearrangement in seven cases (37%).

ALK

aneuploidy


Input: Deafness at diagnosis was constant in patients with BSND mutations; transient neonatal hyperkalaemia was present in two-thirds of the children with KCNJ1 mutations.

hyperkalaemia


Input: Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.

lateral sclerosis

lateral sclerosis


Input: Little is known about the importance of hypoxia in pediatric tumors; therefore, we evaluated the effects of hypoxia on the response of the neuroblastoma cell lines SH-EP1 and SH-SY5Y to the clinically relevant drugs, vincristine, etoposide, and cisplatin.

tumors


Input: The aim of this study was to investigate TPA and PAI-1 gene polymorphisms in relation to susceptibility to generalized aggressive periodontitis (G-AgP).

TPA

aggressive periodontitis


Input: There was no correlation between FVIII-VWF and fibrinogen levels in the CTEPH group (P = 0. 84 for FVIII and 0. 49 for VWF) but a strong correlation between FVIII-VWF and fibrinogen in the non-CTEPH (P < 0. 0001).

FVIII

fibrinogen


Input: Signaling through the mammalian target of rapamycin (mTOR) has been found to impact insulin sensitivity under various pathological conditions, through serine phosphorylation and inhibition of insulin receptor substrate by the downstream effector of mTOR, ribosomal S6 kinase 1 (S6K1).

ribosomal S6 kinase 1

insulin sensitivity


Input: Addition of caffeine, UCN-01, or inhibitors of checkpoint pathways or silencing of Chk1 suppressed the accumulation of overreplicated cells and promoted apoptosis.

caffeine


Input: These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD.

IKAP

FD

IKAP

FD


Input: She presented with mental retardation, developmental motor delay, epilepsy exhibiting the feature of Lennox-Gastaut syndrome, exotropia, bilateral polymicrogyria with a relatively spared perisylvian region, bilateral patchy-white-matter MRI signal changes, and hypoplastic pontine basis.

MRI

epilepsy


Input: Here, we employed several complementary mouse models of intestinal cancers, including the Slit2 transgenic mice, the ApcMin/+ spontaneous intestinal adenoma mouse model, and the DMH/DSS-induced colorectal carcinoma model to clarify function of Slit2/Robo1 signaling in intestinal tumorigenesis.

tumorigenesis


Input: Oxaliplatin elicits mechanical and cold allodynia in rodents via TRPA1 receptor stimulation.

allodynia

allodynia


Input: Phosphatase and tensin homologue (PTEN), an established NEDD4 target, was increased and accumulated in highly atrophic DM2 muscle fibers.

tensin

atrophic


Input: Biochemical analysis revealed intrahepatic cholestasis, delayed switch of AFP to albumin, and elevated triglyceride, total cholesterol and LDL-cholesterol together with reduced HDL-cholesterol.

AFP

intrahepatic cholestasis


Input: CA15. 3 (soluble MUC1) levels were significantly higher in the serum of mesothelioma patients than in healthy controls but were not significantly different to levels in patients with benign asbestos-related disease.

mesothelioma

mesothelioma


Input: Electrocardiography (ECG), heart rate (HR), systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), serum lipid levels (T-CHO, HDL-CHO, TG), and fibrinogen were determined before and after propranolol administration.

DBP

systolic blood pressure


Input: We assume that these genetic variants do not play a dominant role in silicosis and PTB in our Chinese population.

PTB

silicosis


Input: Our results that MDR1 mRNA was frequently expressed in CD7 + AML and CD7 + CD4-CD8-ALL, together with the previous reports indicating clinical similarities between these leukemias, provides a clue to clarify a relationship between CD7 + AML and CD7 + CD4-CD8-ALL.

leukemias


Input: We genotyped ALAS2 in 4 unrelated CEP patients exhibiting the same C73R/P248Q UROS genotype.

UROS

CEP

UROS

CEP


Input: Children with GNMT mutation have elevated liver transaminases, and Gnmt knockout mice develop liver injury, fibrosis, and HCC.

HCC

fibrosis


Input: In this report, we describe an 8-year-old girl with mental retardation, postnatal growth deficiency, generalized muscular hypotonia, seizures, microcephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46, XX, der (17) t (5; 17) (p13. 1; p13. 3) mat chromosome complement.

partial agenesis of corpus callosum


Input: In this report, we describe three (two familial and one sporadic) non-consanguineous cases presenting with ODDD features in whom we identified novel missense heterozygous mutations of the GJA1 gene: c. 317T & gt; G (p. L106R), c. G139C (p. D47H), and c. C257A (p. S86Y).

ODDD

ODDD


Input: In the NETT Genetics Ancillary Study population, SNPs in microsomal epoxide hydrolase (EPHX1) [p = 0. 01 to 0. 04] and serpin peptidase inhibitor, clade E, member 2 (SERPINE2) [p = 0. 04 to 0. 008] were associated with hypoxemia.

hypoxemia


Input: Taken together, these findings suggest that the glycolytic enzyme GAPDH regulates the gene expression of ccn2 mRNA in trans by acting as a sensor of oxidative stress and redox signals, leading to CCN2 overexpression under the condition of hypoxia and promotion of angiogenesis.

hypoxia


Input: In the present report, through screening 23 unrelated AR LGMD patients, we identified three subjects with LGMD2F, two with a previously reported frameshift mutation and the other homozygous for a new missense mutation in the delta sarcoglycan gene.

delta sarcoglycan

delta sarcoglycan


Input: Overexpression of RB2/p130 not only suppresses tumor formation in nude mice but also causes regression of established tumor grafts, suggesting that RB2/p130 may modulate the angiogenetic balance.

regression


Input: Immunohistochemically, both the mucinous and nonmucinous components were positive for cytokeratin 7, TTF-1, and E-cadherin, and negative for cytokeratin 20, consistent with the results for nonmucinous bronchioloalveolar carcinoma.

cytokeratin 7

bronchioloalveolar carcinoma


Input: We genotyped IL12A rs568408 [3' untranslated region (UTR) G > A] and rs2243115 (5' UTR T > G) and IL12B rs3212227 (3' UTR A > C) in a hospital-based study of 404 cervical cancer cases and 404 cancer-free controls.

UTR

cervical cancer


Input: Mutations in the CHAC gene on 9q21 were recently found to cause chorea-acanthocytosis.

CHAC

chorea-acanthocytosis

CHAC

chorea-acanthocytosis


Input: Using immunocytochemistry for IL-1alpha, beta, IL-6, tumor necrosis factor (TNF)-alpha, and macrophage chemotactic protein (MCP)-1, only IL-1beta was found to be induced in reactive astrocytes surrounding beta-amyloid deposits detected in 14-month-old Tg2576 mice.

MCP

amyloid deposits


Input: These results are specific to the KCNC3 (R420H) allele and provide new insight into the molecular basis of disease manifestation in SCA13.


Input: Serum sCD30 levels and CD26 (DPPIV) enzyme activity were compared with IFN-gamma production by PBMC cultured with cytomegalovirus (CMV) antigen in controls and patient groups.

DPPIV

cytomegalovirus


Input: Our findings show that both drugs demonstrate efficacy in reversing the SQT1 phenotype, and indicate that disopyramide warrants further investigation as an alternative to quinidine in the treatment of SQT1.


Input: Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.

juvenile nephronophthisis

juvenile nephronophthisis


Input: Microsatellite (DNA repetitive sequences) instability (MSI) used as a surrogate marker of MMR defects was associated with a predisposition to somatic mutations of several genes including those involved in the neoplastic transformation and tumor progression.

MMR

neoplastic transformation


Input: Mutations in the gene for neural cell adhesion molecule L1 are responsible for the highly variable phenotype found in families with X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type I.

neural cell adhesion molecule L1

X-linked hydrocephalus

neural cell adhesion molecule L1

X-linked hydrocephalus


Input: Therapeutic applications of IL-2 may also be expanded to relieve morphine-insensitive pain.

pain

pain


Input: More recently, a direct role for UCP-2 in the regulation of atherogenesis has been suggested by the observation that bone marrow transplantation from UCP-2-deficient mice to low-density lipoprotein receptor-deficient mice markedly increased atherosclerotic lesion size.

UCP

atherosclerotic lesion


Input: Moreover, enhanced expression of cross-linked Sp1 and TG2 was evident in hepatocyte nuclei of patients with alcoholic steatohepatitis.

alcoholic steatohepatitis


Input: Previously, we demonstrated an elevated SH3-containing guanine nucleotide exchange factor (SGEF) expression in clinical specimens with prostate cancer and implicated the role of SGEF in prostate tumorigenesis.

SGEF

prostate cancer


Input: Our data provide molecular evidences that LOX is mechanistically linked to increased invasion and migration of hypoxic NSCLC cells, and may serve as an antimetastasis target of human NSCLC.

LOX

hypoxic


Input: Our results provide the first demonstration of inflammation-mediated lymphangiogenesis in AD and that IL-4 triggered macrophage recruitment may be closely linked to this phenomenon.

inflammation


Input: However, after a pilocarpine-induced convulsive status epilepticus, clear MRP2 staining became visible in brain capillary endothelial cells and, less frequently, perivascular astroglia and neurons in various brain regions.

convulsive status epilepticus

convulsive status epilepticus


Input: CDT1 expression is higher in severe dysplasia than in mild and moderate dysplasia.

mild


Input: miR-4717 levels in peripheral lymphocytes from patients with HBV-related chronic hepatitis, cirrhosis and HCC were significantly decreased.

HCC

chronic hepatitis


Input: These data clearly indicate that signalling through CCR2 has many effects on the normal growth and development of hepatic granulomas.

granulomas


Input: This study had three objectives: (1) to characterize the structures of the chicken GCAP1 and GCAP2 genes; (2) to determine if GCAP1, GCAP2, and GC1 genes are expressed in chicken pineal gland; (3) if GC1 is expressed in chicken pineal, to determine if the GC1 null mutation carried by the retinal degeneration (rd) chicken is associated with degenerative changes within the pineal glands of these animals.

retinal degeneration


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

hematologic malignancies


Input: SST hypermethylation showed highly discriminative receiver-operator characteristic curve profiles, clearly distinguishing esophageal squamous cell carcinomas (ESCC) and esophageal adenocarcinomas (EAC) from normal esophagus (NE) (P <. 01).

SST

esophageal


Input: When adjusted for age, sex, smoking status, and alcohol use, the increased risk for ESCC was significantly associated with reduced expression of GSTP1, MTHFR, and NQO1, and GSTP1 mRNA showed a steady association with the risk for ESCC (OR = 2. 640) in the model of stepwise regression analysis.

alcohol use


Input: A high frequency of allelic loss at the BRCA2 gene locus has also been reported in a variety of sporadic epithelial tumors including oesophageal squamous cell carcinomas (SCC), and sporadic head and neck SCC.

BRCA2 gene

sporadic


Input: In this study, we evaluate the value of identifying MAML2 rearrangement by fluorescence in situ hybridization (FISH) to distinguish TMEC from poorly differentiated squamous cell carcinoma and adenosquamous carcinoma.

FISH

squamous cell carcinoma


Input: Patients with RAI1 mutation were more likely to exhibit overeating, obesity, polyembolokoilamania, self-hugging, muscle cramping, and dry skin and less likely to have short stature, hearing loss, frequent ear infections, and heart defects when compared with patients with deletion, while a subset of small deletion cases with deletions spanning from TNFRSF13B to MFAP4 was less likely to exhibit brachycephaly, dental anomalies, iris abnormalities, head-banging, and hyperactivity.

hyperactivity


Input: The 972 kindreds include 2284 cases of BPI disorder, 498 individuals with bipolar II disorder (BPII) and 702 subjects with recurrent major depression.

BPI

major depression


Input: ERK and NF-κB play regulatory roles for the expression of adhesion molecules and chemokines in coculture.

NF-κB

adhesion


Input: Campomelic dysplasia (MIM 114290) is a severe malformation syndrome frequently accompanied by male-to-female sex reversal.

MIM

sex reversal


Input: IL-12 (p40) transcripts were elevated in adults and children in association with follicular inflammation but not with scarring.

scarring


Input: Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.

multiple endocrine neoplasia type 1

multiple endocrine neoplasia type 1


Input: The aim was to study the relationship between adipose AQP7 and hepatic AQP9 messenger RNA expression and the presence of glucose abnormalities simultaneously in morbid obesity.

abnormalities


Input: CEA-related cell adhesion molecule-1 is involved in angiogenic switch in prostate cancer.

CEA

angiogenic switch


Input: Immunohistochemical analysis for epithelial membrane antigen, calretinin, vimentin, & #946;-catenin, melan-A, glucose transporter-1, cytokeratin CAM5. 2, Wilms tumor antigen-1, D2-40, CD146, progesterone receptor, estrogen receptor, and cytokeratin 5/6 was indicative of malignant mesothelioma.

vimentin

malignant mesothelioma

vimentin

malignant mesothelioma


Input: Expression studies revealed that only K217E is a deleterious mutation, because a plasmid encoding ALDP with K217E was ineffective in the restoration of defective beta-oxidation in X-ALD fibroblasts.

ALDP

X-ALD

ALDP

X-ALD


Input: The purpose of this study was to review the sonographic features of breast cancer gene BRCA1-and BRCA2-associated breast carcinomas in comparison with " sporadic " breast carcinomas and benign breast masses.

sporadic


Input: We recently identified the FIP1L1-PDGFRA fusion gene in approx 50% of HES/CEL cases.

CEL

CEL


Input: Netherton syndrome (NTS) is a rare autosomal recessive multisystem disorder characterized by congenital erythroderma and ichthyosis, hair shaft abnormalities and immune dysregulation.

NTS

immune dysregulation


Input: In this study, we demonstrated that long-term CAR activation by TCPOBOP increased liver-to-body weight ratio and decreased tumour suppressor Foxo1 expression and transcriptional activity, which were correlated with reduced expression of genes regulated by Foxo1, including the cell-cycle inhibitor Cdkn1a (p21), and upregulation of the cell-cycle regulator Cyclin D1.

body weight


Input: GEM models of mammary carcinoma have proven to be invaluable tools to gain insight into mechanisms underlying tumor initiation, progression, and therapeutic responses in an in vivo system where tumors spontaneously develop in an appropriate tissue environment.

GEM

tumor initiation


Input: To investigate the possible involvement of BRCA2 in sporadic breast tumors, we looked at LOH at eight microsatellite (CA) n markers distributed along chromosome 13 in a panel of 59 primary breast carcinomas.

sporadic


Input: The detection of one nonsense point mutation and one missense WT1 gene point mutation adds to the accumulating evidence implicating this gene in a proportion of Wilms tumor patients.

Wilms tumor

Wilms tumor


Input: Neuroblastoma tumorigenesis is regulated through the Nm23-H1/h-Prune C-terminal interaction.

tumorigenesis


Input: Overall, these studies demonstrate the requirement for NRIF to signal p75 (NTR)-mediated apoptosis of hippocampal neurons and that blocking pro-NGF can inhibit neuronal loss after seizures.

NGF

seizures

NGF

seizures


Input: In a mouse model that spontaneously develops follicular thyroid cancer (FTC) with distant metastasis (TRbetaPV mouse), PTTG is overexpressed, similar to human thyroid cancer.

PTTG

follicular thyroid cancer


Input: The mean concentration of urine glucose was high in SAMP10/TaSlc mice and increased further with advancing age, whereas other strains of senescence-accelerated mice, including SAMP1/SkuSlc, SAMP6/TaSlc and SAMP8/TaSlc or normal aging control SAMR1/TaSlc mice, exhibited no detectable glucose in urine.

aging


Input: These data confirm recent data that a single defective allele in ABCA1 may be associated with reduced HDL cholesterol and FHA.

FHA

FHA


Input: We describe the FBN1 genotypes and related phenotypes of 81 patients who were referred to our attention for MFS or Marfan-like phenotypes.

MFS

MFS


Input: Moreover, somatically acquired p53 mutations and gene deletions are common feature in breast cancer of sporadic origin.

sporadic


Input: In this study we identified elevation in CD14 (+) CD16 (+), a minor blood monocyte subpopulation in cholangiocarcinoma (CCA) patients, compared to normal and biliary disease patient specimens.

biliary disease


Input: Among 113 primary ESCC tumors, the absence of immunoreactive CRABP1 was significantly associated with de-differentiation of cancer cells and with distant lymph-node metastases in the patients.

ESCC

ESCC


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

blood pressure


Input: We found no differences in levels of interferon γ (IFN-γ) and interleukin 2 produced by T-helper 1 cells when comparing patients with AOT or POT to asymptomatic individuals.

interleukin 2

asymptomatic


Input: Deficiency of aromatic L-amino acid decarboxylase (AADC) is associated with severe developmental delay, oculogyric crises (OGC), and autonomic dysfunction.

OGC

developmental delay


Input: Taken together, we suggest that antagonism of the MCHR1 receptor may provide a novel approach for the treatment of affective disorders, including depression, with a potentially increased efficacy in women.

depression

depression


Input: Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.

Marfan syndrome

Marfan syndrome


Input: Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Romano-Ward syndrome

Romano-Ward syndrome


Input: The loss of PIN1 deregulates cyclin E and sensitizes mouse embryo fibroblasts to genomic instability.

genomic instability


Input: Uncontrolled production of the pro-inflammatory cytokines such as interferon-γ (IFN-γ), tumor necrosis factor α (TNFα), interleukin-6 (IL-6), and IL-17 can promote autoimmune pathology, whereas anti-inflammatory cytokines including IL-4, IL-10, and IL-27 can help control inflammation and tissue damage.

inflammation


Input: OATP1B3, OATP2A1, OATP3A1 and OATP4A1 protein expression was confirmed in these tissues and expression of all four transporters increased in pancreatic adenocarcinoma compared to normal pancreas.

pancreatic adenocarcinoma


Input: These predictions revealed that BRCA2 T2722R (8393C--& gt; G), which segregates with affected individuals in a family with breast cancer, disrupts three potential ESE sites.

breast cancer

breast cancer


Input: Through 5' deletional and genetic reporter analyses, several functional upstream repressor regions (URRs) were identified within Prm1 in PC3, MCF-7 and MDA-MB-231 cells while site-directed mutagenesis identified the tumor suppressors Wilms' tumor (WT) 1 and hypermethylated in cancer (HIC) 1 as the trans-acting factors regulating those repressor regions.

cancer


Input: In addition to hyperlipidemia, APOC1 transgenic mice developed dry and scaly skin with loss of hair, dependent on the amount of APOC1 expression in the skin.

dry


Input: Western blot analysis and immunocytochemistry showed that EGCG increased cell adhesion proteins including E-cadherin (CDH1), tumor-associated calcium signal transducer 1 (TACSTD1), and protein tyrosine kinase 2 (PTK2) decreased by hypoxia.

hypoxia


Input: A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.

coproporphyrinogen oxidase

hereditary coproporphyria

coproporphyrinogen oxidase

hereditary coproporphyria


Input: This is the first report of increased Palb activity in recurrence of proteinuria following transplantation in NPHS1.

Palb

proteinuria


Input: These analyses confirm that MPDZ status is associated with severity of alcohol and pentobarbital withdrawal convulsions.

MPDZ

convulsions

MPDZ

convulsions


Input: The results suggest that specific tumor tropic " naïve " MSC are reprogrammed in a tumor-specific manner to support gastric tumor progression.

MSC

gastric tumor


Input: Changes in GABA (A) receptor alpha1 subunit gene (GABRA1) expression have been reported in animal models of epilepsy, alcohol abuse, withdrawal, and stress.

alcohol abuse

alcohol abuse


Input: Furthermore, LOX expression is only partially dependent on hypoxia inducible factor-1 (HIF-1alpha) in poorly invasive breast cancer cells, as hypoxia mimetics and overexpression of HIF-1alpha could not up-regulate LOX expression to the levels observed under hypoxia.

LOX

hypoxia


Input: To assess whether the mRNA levels of adiponectin and its receptors (ADIPOR1 and ADIPOR2) might show daily circadian rhythms in visceral and sc fat explants obtained from morbid obese women, visceral and sc abdominal AT biopsies (n = 6) were obtained from morbidly obese women (body mass index > or = 40 kg/m (2)).

body mass index


Input: Our results indicated that expression of ATP5J was significantly higher in colorectal cancer tissue than in adjacent tissue, and it was also significantly higher in metastatic lymph nodes than in primary cancer tissue (P < 0. 05).

primary cancer


Input: Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

ACAD9 deficiency

ACAD9 deficiency


Input: We investigated the relationship between the variable number of tandem repeats (VNTR) for IL-4, which is an important biomarker of inflammation, and the risk of IS.

inflammation


Input: Endothelial treatment with 10 U/ml tissue necrosis factor-α and 20 U/ml interferon-γ resulted in de novo expression of pro-inflammatory chemokines CCL2, CXCL9, CXCL11, and CCL20, with increased expression of CXCL2-3, CXCL8, and CXCL10 relative to basal levels.

necrosis


Input: Some neuroendocrine tumor (NET) and neuroblastoma cells express low levels of CAR and are therefore poorly transduced by Ad5.

NET

neuroblastoma


Input: We found that the levels of CD4 + T cell activation over time were a strong independent predictor of CD4 + T cell counts while CD8 + T cell activation was more strongly associated with viremia.

viremia


Input: In support of this hypothesis, ARK5 was induced when an MAFB or c-MAF expression vector was introduced into non-ARK5-expressing colon cancer cells.

MAF

colon cancer


Input: In the latter domain have been also identified the few molecular abnormalities described in type 2M which is defined by a decreased platelet-dependent function not caused by the absence of HMW multimers.

HMW

abnormalities


Input: The t (12; 14) (p13; q11)--a recurrent translocation in childhood T-cell acute lymphoblastic leukemia (T-ALL)--has very recently been molecularly characterized in one case, which displayed overexpression of the cyclin D2 gene (CCND2).

translocation


Input: The laminin alpha (2) chain (6q2), Fukuyama type congenital muscular dystrophy (9q31-q33) and muscle-eye-brain disease (1p32-p34) loci were all excluded by linkage analysis.

muscle-eye-brain disease


Input: Examinations included, at the patient level: test for interleukin-1 polymorphism, compliance to supportive periodontal therapy (SPT), mean plaque scores during SPT; at the tooth level: assessment of baseline bone loss (type, amount), tooth type, furcation status and abutment status.

SPT

plaque


Input: Hence, we studied the virulence factors genes of GAS isolated from the throat of children with pharyngitis and also asymptomatic carriers.

GAS

asymptomatic


Input: We used in situ hybridization histochemistry to quantify the level of expression of PS2 message in the hippocampus of normal subjects and subjects with mild, moderate or severe AD.

mild


Input: Drug response profiling of matched patient-derived xenografts revealed a distinct profile for TCF3-HLF ALL with resistance to conventional chemotherapeutics but sensitivity to glucocorticoids, anthracyclines and agents in clinical development.

HLF

ALL

HLF

ALL


Input: HIV-1 isolates obtained from plasma and CSF in 28 individuals with varying viral load, CD4 T-cell counts, and with or without AIDS-defining disease were analyzed for the ability to infect NP2. CD4 cells stably expressing a panel of HIV coreceptors (CCR5, CXCR4, CCR3, CXCR6, GPR1, APJ, ChemR23, RDC-1 or BLT1).

APJ

viral load


Input: Glyoxylase 1 (GLO1) and guanine nucleotide-binding protein 1 (GNB1) mostly account for baseline anxiety-like and depressive-like behavior, indicating a common biological link between depression and anxiety.

nucleotide-binding protein 1

depression


Input: We paid attention to PIM1, the target gene of both miR-1 and miR-214 miRNAs and which was found overexpressed in mesothelioma cells, and miR-1 and miR-214 mimic transfection of mesothelioma cell lines showed downregulation of PIM1 by western blot analysis.

mesothelioma


Input: Alternative splicing alterations of Ca2 + handling genes are associated with Ca2 + signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes.

myotonic dystrophy


Input: TH2 cells orchestrate the asthmatic inflammation through the secretion of a series of cytokines, particularly interleukin 4 (IL-4), IL-13, IL-5, and IL-9.

inflammation


Input: Tissues of 78 prostate carcinomas, 32 benign prostate hyperplasias (BPHs), and prostate cell lines (LNCaP, DU145, PC3, BPH-1) were examined with MethyLight polymerase chain reaction at 13 gene loci (APC, CDC6, CTNNB1, E-Cadherin, EDNRB, FGFR2, GSTP1, NAB2, PKCmu, PTGS2, RAR-beta, RASL11A, WWOX).

carcinomas


Input: We therefore explored the role of CaV1. 3 L-type Ca2 + channels in depression-and anxiety-like behaviours using CaV1. 3-deficient mice (CaV1. 3-/-).

anxiety


Input: Conversely, MMP2 upregulated fractalkine mRNA and protein expression in HRMCs, which led to an increase in chemotaxis and a decrease in monocytic adhesion to HRMCs.

adhesion


Input: Moreover, histone methyltransferases have been shown to be modulated by the oncosuppressors HIC1, MEN1, and HRPT2/CDC73 gene products that characterize tumorigenesis of parathyroid adenomas and carcinomas, respectively.

tumorigenesis


Input: Associations between SNPs and time to tumor recurrence (TTR) were analyzed using Kaplan-Meier curves, log-rank tests, and likelihood-ratio test within logistic or Cox regression model as appropriate.

TTR

regression


Input: Hereditary predisposition to retinoblastoma is caused by germline mutations in the RB1 gene.

retinoblastoma

retinoblastoma


Input: We have also investigated the requirement of cell surface heparan sulfate proteoglycans (HSPGs) as coreceptors for monocyte adhesion to Cyr61.

adhesion


Input: Cyclooxygenase-2 induces genomic instability, BCL2 expression, doxorubicin resistance, and altered cancer-initiating cell phenotype in MCF7 breast cancer cells.

doxorubicin resistance

genomic instability


Input: These results suggest that if p73 plays a role in meningioma carcinogenesis, it must be in a manner different from the Knudson two-hit model.

hit


Input: The search for the cause of chronic hepatitis among individuals with non-A to G hepatitis has led to the discovery of a post-transfusion hepatitis-related DNA virus, designated TT virus (TTV), which, based on viral sequences, belongs to a new virus family.

TTV

chronic hepatitis


Input: Every patient was screened for testosterone and 451 were screened for prolactin on the basis of low sexual desire, gynecomastia or testosterone less than 4 ng./ml.

prolactin

gynecomastia

prolactin

gynecomastia


Input: The PGL cases studied included 26 (53%) cases of diffuse large B-cell lymphoma (DLBCL), 12 (25%) cases of extranodal marginal zone lymphoma (MZL), 7 (14%) cases of MZL with large cell transformation (MZL/DLBCL), 1 (2%) case of follicular lymphoma (FL), one (2%) case of Burkitt-like lymphoma (BL), one case (2%) of lymphoplasmacytic lymphoma (LPL) and one case (2%) of peripheral T-cell lymphoma.

LPL

follicular lymphoma


Input: Mutation types include nonsense, frameshift, splice site, missense, and small in-frame deletions consistent with the hypothesis that loss of UBR1 protein function is the molecular basis of JBS.

JBS

JBS


Input: The G10254A substitution in the mtDNA-ND3 gene is another cause of maternally inherited Leigh syndrome.

maternally inherited Leigh syndrome

maternally inherited Leigh syndrome


Input: The results of this study, conducted in a region relatively endemic for HHV 8, support most earlier studies showing a lack of association of HHV 8 infection with LPP and sporadic adult-type MF.

LPP

sporadic


Input: Our results support the notion that particular features of the c-Myc locus select it as a preferential translocation/amplification target, compared to the endogenous N-myc locus, in Lig4/p53-deficient pro-B cell lymphomas.

translocation


Input: To determine the signaling mechanisms and the role of NFκB activation in sepsis-induced inflammation, we assessed the levels of IκBα phosphorylation and expression of NFκB-dependent genes in the liver in the two genotypes.

IκBα

sepsis


Input: Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families.

FTHS

FTHS


Input: In vitro, using serum starvation-refeeding experiment, our results suggested that SYF2 was upregulated in proliferating HCC cells, and was positive correlated with the expression of PCNA and Cyclin D1.

Cyclin D1

starvation


Input: A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

CD40 ligand

X-linked hyper IgM syndrome

CD40 ligand

X-linked hyper IgM syndrome


Input: Immunohistochemical patterns of p53 and beta catenin were studied using the natural carcinogenetic model of malignant colorectal sporadic adenoma in 27 formalin-fixed paraffin-embedded polyps.

sporadic


Input: To address this problem, we have undertaken a differential display-based three-pair comparative mRNA profiling of bone-marrow derived mesenchymal stem cells (MSC) and cells isolated by primary MFH, leiomyosarcoma and smooth muscle cells, fibrosarcoma and dermal fibroblasts.

MSC

fibrosarcoma


Input: RESULTS: Nineteen single nucleotide polymorphisms (SNPs) in 9 genes (AVP, AVPR1A, CRHR1, CRHR2, FKBP5, GAL, GLRA1, NPY1R and NR3C2) showed nominally significant association with heroin addiction.

addiction


Input: In advanced atherosclerotic lesions, TIMP4 was detected around necrotic lipid cores, whereas TIMP3 and caspase 3 resided within and around the core regions, indicating different roles for TIMP3 and TIMP4 in inflammation-induced apoptosis and in matrix turnover.

caspase 3

inflammation


Input: We show here that ectopic overexpression of the E3 ubiquitin ligase Rad18 (a central regulator of TLS) induces DNA damage-independent mono-ubiquitination of proliferating cell nuclear antigen (PCNA) (a known Rad18 substrate) and FANCD2.

mono


Input: On day 1 after ischemia, however, CAD mRNA and protein were significantly increased in the CA1 sector, and then CAD protein immunohistochemically showed a translocation from the perikarya into the nucleus.

ischemia


Input: In the current study, the expression of cyclin D1 has been investigated in a series of 33 patients, with benign (10 patients), borderline (five patients) and malignant (18 patients) ovarian disease.

cyclin D1

ovarian disease


Input: A high proportion (up to 50%) of sporadic epithelial ovarian cancers (EOC) could be deficient in HR due to genetic or epigenetic inactivation of BRCA1/BRCA2 or other HR genes.

sporadic


Input: GRO-alpha gene expression and the presence of GRO-alpha peptide were detected in polyp tissue by means of in situ hybridization, quantitative real-time reverse transcriptase polymerase chain reaction and immunohistochemistry.

alpha gene

polyp


Input: Furthermore, the expression of EWS/FLI-1 or EWS/ERG chimeric genes was found to be generated through a t (11; 22) (q24; q12) or a t (21; 22) (q22; q12) translocation.

EWS

translocation


Input: Our goal was to assess the ability of the General Cardiovascular Risk Profile to identify individuals with advanced coronary artery calcification (CAC) and determine whether identification is improved with family history.

CAC

coronary artery calcification


Input: We have assessed PTEN' s role in the nervous system and find that PTEN is expressed in mouse brain late in development, starting at approximately postnatal day 0.

PTEN

nervous system


Input: However, sporadic cases having concomitant EGFR and ALK alterations have been reported.

EGFR

sporadic


Input: Molecular epidemiology of malaria in Yaounde, Cameroon. VIII. Multiple Plasmodium falciparum infections in symptomatic patients.

VIII

infections


Input: miR-125b acts as a tumor suppressor in breast tumorigenesis via its novel direct targets ENPEP, CK2-α, CCNJ, and MEGF9.

ENPEP

tumorigenesis


Input: We demonstrate that MSC-like cells can be isolated from both human gastric tumor (hGC-MSCs) and adjacent non-cancerous tissues (hGCN-MSCs) of the same patient.

MSC

gastric tumor


Input: We previously reported a conserved haplotype of HLA B52-DR2 and a significantly high frequency of the major histocompatibility complex (MHC) class I chain-related gene A (MICA) transmembrane-short tandem repeat (TM-STR) 6 allele in Japanese patients with ulcerative colitis (UC).

STR

ulcerative colitis


Input: NF-kappaB is a transcription factor involved in expression of many inflammatory cytokines, chemical transmitters, and adhesion molecules.

NF-kappaB

adhesion


Input: The disabilities in the GJB2 positive group included specific learning disability, apraxia, epileptiform aphasia, attention deficit disorder, global developmental delay, and gross motor delay.

apraxia


Input: We suggest that t (8; 16) (p11; p13) represents a new consistent abnormality in acute monocytic leukaemia, specifically associated with the differentiated subtype (M5b) and with pronounced phagocytic activity by the leukaemic monocytes.

acute monocytic leukaemia


Input: CHK1 inhibitors combined with ionizing radiation showed similar radiosensitization in hypoxic and normoxic cells.

hypoxic


Input: The positive expression of YB-1 was associated with squamous cell carcinoma and large cell carcinoma, compared with adenocarcinomas (p < 0. 01), and higher levels of PCNA-LI were associated with large cell carcinoma compared with adenocarcinomas and squamous cell carcinoma (p < 0. 01).

PCNA

large cell carcinoma


Input: We used fluorescence in situ hybridization to characterize the molecular position of the breakpoints in a t (8; 13) (p11; q12) reciprocal translocation from a patient with an atypical myeloproliferative disorder.

myeloproliferative disorder


Input: We present evidence for extended allelic heterogeneity of CS, with the vast majority of mutations leading to premature termination codons in COH1.

CS

CS


Input: We used Pyrosequencing technology to determine the methylation status of 68 CpG sites in the CpG island of the CDKN2B gene [cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)], frequently hypermethylated in myeloid malignancies, in a series of bone marrow samples from patients with myelodysplasia and myeloid leukemia (n = 82) and from 32 controls.

myeloid leukemia


Input: A better understanding of the cellular and molecular mechanisms that promote or prevent disturbances in cellular Ca2 + homeostasis during aging may lead to novel approaches for therapeutic intervention in neurological disorders such as Alzheimer' s and Parkinson' s diseases and stroke.

stroke


Input: We also examined the phenotypic and genetic relationships between EDR lability and speed of habituation of the specific EDR to a nonsignal stimulus.

EDR

habituation


Input: Genetically modified mice with altered levels of insulin-like growth factor II or receptors mediating insulin-like growth factor II signalling showed abnormalities known to be associated with, or contribute to, ageing and atherosclerosis in humans.

insulin-like growth factor II

ageing


Input: The proinflammatory lysophosphatidic acid (LPA) is a potent activator of several transcriptional factors and signaling pathways and a potent modulator of genes involved in inflammation, angiogenesis and fibrosis.

LPA

fibrosis


Input: Early dental epithelial markers PITX2, MSX2, DLX2, RUNX1, and ISL1 were differentially overexpressed in ameloblastoma, indicating its dental identity.

ameloblastoma