Development of a blood-based gene expression algorithm for assessment of obstructive coronary artery disease in non-diabetic patients.

abstract：BACKGROUND:Small non-coding regulatory RNAs control cellular functions at the transcriptional and post-transcriptional levels. Oral squamous cell carcinoma is among the leading cancers in the world and the presence of cervical lymph node metastases is currently its strongest prognostic factor. In this work we aimed at ...

journal_title：BMC medical genomics

authors： Severino P,Oliveira LS,Andreghetto FM,Torres N,Curioni O,Cury PM,Toporcov TN,Paschoal AR,Durham AM

更新日期：2015-06-24 00:00:00

abstract：BACKGROUND:Currently, diagnosis of affected individuals with rare genetic disorders can be lengthy and costly, resulting in a diagnostic odyssey and in many patients a definitive molecular diagnosis is never achieved despite extensive clinical investigation. The recent advent and use of genomic medicine has resulted in...

journal_title：BMC medical genomics

authors： Dinwiddie DL,Soden SE,Saunders CJ,Miller NA,Farrow EG,Smith LD,Kingsmore SF

更新日期：2013-09-17 00:00:00

abstract：BACKGROUND:Childhood asthma is a syndrome composed of heterogeneous phenotypes; furthermore, intrinsic biologic variation among racial/ethnic populations suggests possible genetic ancestry variation in childhood asthma. The objective of the study is to identify clinically homogeneous asthma subphenotypes in a diverse s...

journal_title：BMC medical genomics

authors： Ding L,Li D,Wathen M,Altaye M,Mersha TB

更新日期：2018-05-31 00:00:00

abstract：BACKGROUND:To get insight into molecular mechanisms underlying insulin resistance, we compared acute in vivo effects of insulin on adipose tissue transcriptional profiles between obese insulin-resistant and lean insulin-sensitive women. METHODS:Subcutaneous adipose tissue biopsies were obtained before and after 3 and ...

journal_title：BMC medical genomics

authors： Soronen J,Laurila PP,Naukkarinen J,Surakka I,Ripatti S,Jauhiainen M,Olkkonen VM,Yki-Järvinen H

更新日期：2012-04-03 00:00:00

abstract：BACKGROUND:Methotrexate is one of the earliest cytotoxic drugs used in cancer therapy, and despite the isolation of multiple other folate antagonists, methotrexate maintains its significant role as a treatment for different types of cancer and other disorders. The usefulness of treatment with methotrexate is limited by...

journal_title：BMC medical genomics

authors： Selga E,Morales C,Noé V,Peinado MA,Ciudad CJ

更新日期：2008-08-11 00:00:00

abstract：BACKGROUND:Phelan-McDermid syndrome (PMS, OMIM#606232), or 22q13 deletion syndrome, is a rare genetic disorder caused by deletion of the distal long arm of chromosome 22 with a variety of clinical features that display considerably heterogeneous degrees of severity. The SHANK3 gene is understood to be the critical gene...

journal_title：BMC medical genomics

authors： Li S,Xi KW,Liu T,Zhang Y,Zhang M,Zeng LD,Li J

更新日期：2020-10-06 00:00:00

abstract：BACKGROUND:Despite being caused by mutations in different genes, diseases in the same phenotypic series are clinically similar, as reported in Part I of this study. Here, in Part II, we hypothesized that the phenotypic series too might be clinically similar. Furthermore, on the assumption that gene mutations indirectly...

journal_title：BMC medical genomics

authors： Gamba A,Salmona M,Cantù L,Bazzoni G

更新日期：2020-09-24 00:00:00

abstract：BACKGROUND:At least 90% of human genes are alternatively spliced. Alternative splicing has an important function regulating gene expression and miss-splicing can contribute to risk for human diseases, including Alzheimer's disease (AD). METHODS:We developed a splicing decision model as a molecular mechanism to identif...

journal_title：BMC medical genomics

authors： Han S,Miller JE,Byun S,Kim D,Risacher SL,Saykin AJ,Lee Y,Nho K,for Alzheimer’s Disease Neuroimaging Initiative.

更新日期：2019-01-31 00:00:00

abstract：BACKGROUND:Type 1 diabetes (T1D) is a complex disease and harmful to human health, and most of the existing biomarkers are mainly to measure the disease phenotype after the disease onset (or drastic deterioration). Until now, there is no effective biomarker which can predict the upcoming disease (or pre-disease state) ...

journal_title：BMC medical genomics

authors： Liu X,Liu R,Zhao XM,Chen L

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND:DNA methylation levels will be important for detection of epigenetic effects. However, there are few reports showing sex-related differences in the sensitivity to DNA methylation. To evaluate their sex-related individual differences in the sensitivity to methylation rigorously, we performed a systematic anal...

journal_title：BMC medical genomics

authors： Watanabe M,Honda C,Osaka Twin Research Group.,Iwatani Y,Yorifuji S,Iso H,Kamide K,Hatazawa J,Kihara S,Sakai N,Watanabe H,Makimoto K,Watanabe M,Honda C,Iwatani Y

更新日期：2016-08-26 00:00:00

abstract：BACKGROUND:Inflammation is a hallmark of many human diseases. Elucidating the mechanisms underlying systemic inflammation has long been an important topic in basic and clinical research. When primary pathogenetic events remains unclear due to its immense complexity, construction and analysis of the gene regulatory netw...

journal_title：BMC medical genomics

authors： Chen BS,Yang SK,Lan CY,Chuang YJ

更新日期：2008-09-30 00:00:00

abstract：BACKGROUND:Accurate discovery of molecular biomarkers that are prognostic of a clinical outcome is an important yet challenging task, partly due to the combination of the typically weak genomic signal for a clinical outcome and the frequently strong noise due to microarray handling effects. Effective strategies to reso...

journal_title：BMC medical genomics

authors： Qin LX,Levine DA

更新日期：2016-06-10 00:00:00

abstract：BACKGROUND:Recent advances in omics technologies have raised great opportunities to study large-scale regulatory networks inside the cell. In addition, single-cell experiments have measured the gene and protein activities in a large number of cells under the same experimental conditions. However, a significant challeng...

journal_title：BMC medical genomics

authors： Wei J,Hu X,Zou X,Tian T

更新日期：2017-12-28 00:00:00

abstract：BACKGROUND:Head and neck squamous cell carcinoma (HNSCC) is one of the most common malignancies in humans. The average 5-year survival rate is one of the lowest among aggressive cancers, showing no significant improvement in recent years. When detected early, HNSCC has a good prognosis, but most patients present metast...

journal_title：BMC medical genomics

authors： Silveira NJ,Varuzza L,Machado-Lima A,Lauretto MS,Pinheiro DG,Rodrigues RV,Severino P,Nobrega FG,Head and Neck Genome Project GENCAPO.,Silva WA Jr,de B Pereira CA,Tajara EH

更新日期：2008-11-11 00:00:00

abstract：BACKGROUND:The increasing trend for incorporation of biological sample collection within clinical trials requires sample collection procedures which are convenient and acceptable for both patients and clinicians. This study investigated the feasibility of using saliva-extracted DNA in comparison to blood-derived DNA, a...

journal_title：BMC medical genomics

authors： Abraham JE,Maranian MJ,Spiteri I,Russell R,Ingle S,Luccarini C,Earl HM,Pharoah PP,Dunning AM,Caldas C

更新日期：2012-05-30 00:00:00

abstract：BACKGROUND:Host protein-protein interaction networks are altered by invading virus proteins, which create new interactions, and modify or destroy others. The resulting network topology favors excessive amounts of virus production in a stressed host cell network. Short linear peptide motifs common to both virus and host...

journal_title：BMC medical genomics

authors： Evans P,Dampier W,Ungar L,Tozeren A

更新日期：2009-05-18 00:00:00

abstract：BACKGROUND:The noninvasive prenatal diagnosis procedures that are currently used to detect genetic diseases do not achieve desirable levels of sensitivity and specificity. Recently, fetal methylated DNA biomarkers in maternal peripheral blood have been explored for the noninvasive prenatal detection of genetic disorder...

journal_title：BMC medical genomics

authors： Yin A,Zhang X,Wu J,Du L,He T,Zhang X

更新日期：2012-06-18 00:00:00

abstract：BACKGROUND:Glucocorticoids act on the glucocorticoid receptor (GR; NR3C1) to resolve inflammation and, as inhaled corticosteroids (ICS), are the cornerstone of treatment for asthma. However, reduced efficacy in severe disease or exacerbations indicates a need to improve ICS actions. METHODS:Glucocorticoid-driven trans...

journal_title：BMC medical genomics

authors： Mostafa MM,Rider CF,Shah S,Traves SL,Gordon PMK,Miller-Larsson A,Leigh R,Newton R

更新日期：2019-01-31 00:00:00

abstract：BACKGROUND:The rapid adoption of next-generation sequencing provides an efficient system for detecting somatic alterations in neoplasms. The detection of such alterations requires a matched non-neoplastic sample for adequate filtering of non-somatic events such as germline polymorphisms. Non-neoplastic tissue adjacent ...

journal_title：BMC medical genomics

authors： Wei L,Papanicolau-Sengos A,Liu S,Wang J,Conroy JM,Glenn ST,Brese E,Hu Q,Miles KM,Burgher B,Qin M,Head K,Omilian AR,Bshara W,Krolewski J,Trump DL,Johnson CS,Morrison CD

更新日期：2016-10-19 00:00:00

abstract：BACKGROUND:Detection of copy number variants (CNVs) is an important aspect of clinical testing for several disorders, including Duchenne muscular dystrophy, and is often performed using multiplex ligation-dependent probe amplification (MLPA). However, since many genetic carrier screens depend instead on next-generation...

journal_title：BMC medical genomics

authors： Kozareva V,Stroff C,Silver M,Freidin JF,Delaney NF

更新日期：2018-10-20 00:00:00

abstract：BACKGROUND:Despite their singular origin, monozygotic twin pairs often display discordance for complex disorders including schizophrenia. It is a common (1%) and often familial disease with a discordance rate of ~50% in monozygotic twins. This high discordance is often explained by the role of yet unknown environmental...

journal_title：BMC medical genomics

authors： Castellani CA,Laufer BI,Melka MG,Diehl EJ,O'Reilly RL,Singh SM

更新日期：2015-05-06 00:00:00

abstract：BACKGROUND:Images embedded in biomedical publications carry rich information that often concisely summarize key hypotheses adopted, methods employed, or results obtained in a published study. Therefore, they offer valuable clues for understanding main content in a biomedical publication. Prior studies have pointed out ...

journal_title：BMC medical genomics

authors： Sheng J,Xu S,Luo X

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND:With the increasing amount of high-throughput genomic sequencing data, there is a growing demand for a robust and flexible tool to perform interaction analysis. The identification of SNP-SNP, SNP-CpG, and higher order interactions helps explain the genetic etiology of human diseases, yet genome-wide analysis...

journal_title：BMC medical genomics

authors： Sun R,Xia X,Chong KC,Zee BC,Wu WKK,Wang MH

更新日期：2019-12-24 00:00:00

abstract：BACKGROUND:A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rare. CASE PRESENTATION:A 7-year-old female was referred for diagnosis due to gro...

journal_title：BMC medical genomics

authors： Sheth H,Trivedi S,Liehr T,Patel K,Jain D,Sheth J,Sheth F

更新日期：2020-09-24 00:00:00

abstract：BACKGROUND:The gene expression profile of cytologically-normal bronchial airway epithelial cells has previously been shown to be altered in patients with lung cancer. Although bronchoscopy is often used for the diagnosis of lung cancer, its sensitivity is imperfect, especially for small and peripheral suspicious lesion...

journal_title：BMC medical genomics

authors： Whitney DH,Elashoff MR,Porta-Smith K,Gower AC,Vachani A,Ferguson JS,Silvestri GA,Brody JS,Lenburg ME,Spira A

更新日期：2015-05-06 00:00:00

abstract：BACKGROUND:The HIV viral genome mutates at a high rate and poses a significant long term health risk even in the presence of combination antiretroviral therapy. Current methods for predicting a patient's response to therapy rely on site-directed mutagenesis experiments and in vitro resistance assays. In this bioinforma...

journal_title：BMC medical genomics

authors： Dampier W,Evans P,Ungar L,Tozeren A

更新日期：2009-07-23 00:00:00

abstract：BACKGROUND:Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within a coding exon. In addition, splice-site mutations have been repor...

journal_title：BMC medical genomics

authors： Furuya M,Kobayashi H,Baba M,Ito T,Tanaka R,Nakatani Y

更新日期：2018-05-02 00:00:00

abstract：BACKGROUND:Gene expression profiling has shown its ability to identify with high accuracy low cytogenetic risk acute myeloid leukemia such as acute promyelocytic leukemia and leukemias with t(8;21) or inv(16). The aim of this gene expression profiling study was to evaluate to what extent suboptimal samples with low leu...

journal_title：BMC medical genomics

authors： de la Blétière DR,Blanchet O,Cornillet-Lefèbvre P,Coutolleau A,Baranger L,Geneviève F,Luquet I,Hunault-Berger M,Beucher A,Schmidt-Tanguy A,Zandecki M,Delneste Y,Ifrah N,Guardiola P

更新日期：2012-01-30 00:00:00

abstract：BACKGROUND:One of the major goals of genomic medicine is the identification of causal genomic variants in a patient and their relation to the observed clinical phenotypes. Prioritizing the genomic variants by considering only the genotype information usually identifies a few hundred potential variants. Narrowing it dow...

journal_title：BMC medical genomics

authors： Rao A,Vg S,Joseph T,Kotte S,Sivadasan N,Srinivasan R

更新日期：2018-07-06 00:00:00

abstract：BACKGROUND:A molecular characterization of Alzheimer's Disease (AD) is the key to the identification of altered gene sets that lead to AD progression. We rely on the assumption that candidate marker genes for a given disease belong to specific pathogenic pathways, and we aim at unveiling those pathways stable across ti...

journal_title：BMC medical genomics

authors： Squillario M,Barla A

更新日期：2011-07-05 00:00:00