Genomic selection of reference genes for real-time PCR in human myocardium.

abstract：BACKGROUND:Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common form of deafness: adult-onset progressive hearing loss. Despite several genome-wide association studi...

journal_title：BMC medical genomics

authors： Lewis MA,Nolan LS,Cadge BA,Matthews LJ,Schulte BA,Dubno JR,Steel KP,Dawson SJ

更新日期：2018-09-04 00:00:00

abstract：BACKGROUND:Rapid advances in scientific research have led to an increase in public awareness of genetic testing and pharmacogenetics. Direct-to-consumer (DTC) genetic testing companies, such as 23andMe, allow consumers to access their genetic information directly through an online service without the involvement of hea...

journal_title：BMC medical genomics

authors： Lu M,Lewis CM,Traylor M

更新日期：2017-06-19 00:00:00

abstract：BACKGROUND:Cancer cells are characterized by massive dysegulation of physiological cell functions with considerable disruption of transcriptional regulation. Genome-wide transcriptome profiling can be utilized for early detection and molecular classification of cancers. Accurate discrimination of functionally different...

journal_title：BMC medical genomics

authors： Krupp M,Maass T,Marquardt JU,Staib F,Bauer T,König R,Biesterfeld S,Galle PR,Tresch A,Teufel A

更新日期：2011-06-30 00:00:00

abstract：BACKGROUND:Systemic sclerosis (SSc), a multi-organ disorder, is characterized by vascular abnormalities, dysregulation of the immune system, and fibrosis. The mechanisms underlying tissue pathology in SSc have not been entirely understood. This study intended to investigate the common and tissue-specific pathways invol...

journal_title：BMC medical genomics

authors： Karimizadeh E,Sharifi-Zarchi A,Nikaein H,Salehi S,Salamatian B,Elmi N,Gharibdoost F,Mahmoudi M

更新日期：2019-12-27 00:00:00

abstract：BACKGROUND:Uric acid is the primary byproduct of purine metabolism. Hyperuricemia is associated with body mass index (BMI), sex, and multiple complex diseases including gout, hypertension (HTN), renal disease, and type 2 diabetes (T2D). Multiple genome-wide association studies (GWAS) in individuals of European ancestry...

journal_title：BMC medical genomics

authors： Charles BA,Shriner D,Doumatey A,Chen G,Zhou J,Huang H,Herbert A,Gerry NP,Christman MF,Adeyemo A,Rotimi CN

更新日期：2011-02-04 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: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: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:We explored the imputation performance of the program IMPUTE in an admixed sample from Mexico City. The following issues were evaluated: (a) the impact of different reference panels (HapMap vs. 1000 Genomes) on imputation; (b) potential differences in imputation performance between single-step vs. two-step (...

journal_title：BMC medical genomics

authors： Krithika S,Valladares-Salgado A,Peralta J,Escobedo-de La Peña J,Kumate-Rodríguez J,Cruz M,Parra EJ

更新日期：2012-05-01 00:00:00

abstract：BACKGROUND:Novel tuberculosis (TB) vaccines recently tested in humans have been designed to boost immunity induced by the current vaccine, Mycobacterium bovis Bacille Calmette-Guérin (BCG). Because BCG vaccination is used extensively in infants, this population group is likely to be the first in which efficacy trials o...

journal_title：BMC medical genomics

authors： Fletcher HA,Keyser A,Bowmaker M,Sayles PC,Kaplan G,Hussey G,Hill AV,Hanekom WA

更新日期：2009-02-24 00:00:00

abstract：BACKGROUND:Hypermethylation of promoter CpG islands with associated loss of gene expression, and hypomethylation of CpG-rich repetitive elements that may destabilize the genome are common events in most, if not all, epithelial cancers. METHODS:The methylation of 6,502 CpG-rich sequences spanning the genome was analyze...

journal_title：BMC medical genomics

authors： Watts GS,Futscher BW,Holtan N,Degeest K,Domann FE,Rose SL

更新日期：2008-09-30 00:00:00

abstract：BACKGROUND:Non-coding RNA has been shown to participate in numerous biological and pathological processes and has attracted increasing attention in recent years. Recent studies have demonstrated that long non-coding RNA and micro RNA can interact through various mechanisms to regulate mRNA. Yet the gene-gene interactio...

journal_title：BMC medical genomics

authors： Liao J,Wang J,Liu Y,Li J,Duan L

更新日期：2019-08-23 00:00:00

abstract：BACKGROUND:Neuroblastoma (NB) tumors are well known for their pronounced clinical and molecular heterogeneity. The global gene expression and DNA copy number alterations have been shown to have profound differences in tumors of low or high stage and those with or without MYCN amplification. RNA splicing is an important...

journal_title：BMC medical genomics

authors： Guo X,Chen QR,Song YK,Wei JS,Khan J

更新日期：2011-04-18 00:00:00

abstract：BACKGROUND:DNA methylation is a key epigenetic regulator contributing to cancer development. To understand the role of DNA methylation in tumorigenesis, it is important to investigate and compare differential methylation (DM) patterns between normal and case samples across different cancer types. However, current pan-c...

journal_title：BMC medical genomics

authors： Shi M,Tsui SK,Wu H,Wei Y

更新日期：2020-10-22 00:00:00

abstract：BACKGROUND:Alterations in gene expression in peripheral blood cells have been shown to be sensitive to the presence and extent of coronary artery disease (CAD). A non-invasive blood test that could reliably assess obstructive CAD likelihood would have diagnostic utility. RESULTS:Microarray analysis of RNA samples from...

journal_title：BMC medical genomics

authors： Elashoff MR,Wingrove JA,Beineke P,Daniels SE,Tingley WG,Rosenberg S,Voros S,Kraus WE,Ginsburg GS,Schwartz RS,Ellis SG,Tahirkheli N,Waksman R,McPherson J,Lansky AJ,Topol EJ

更新日期：2011-03-28 00:00:00

abstract：BACKGROUND:Glaucoma is the largest cause of irreversible blindness affecting more than 60 million people globally. The disease is defined as a gradual loss of peripheral vision due to death of Retinal Ganglion Cells (RGC). The RGC death is largely influenced by the rate of aqueous humor production by ciliary processes ...

journal_title：BMC medical genomics

authors： Vishal M,Sharma A,Kaurani L,Alfano G,Mookherjee S,Narta K,Agrawal J,Bhattacharya I,Roychoudhury S,Ray J,Waseem NH,Bhattacharya SS,Basu A,Sen A,Ray K,Mukhopadhyay A

更新日期：2016-03-22 00:00:00

abstract：BACKGROUND:Urothelial carcinoma (UC) is characterized by nonrandom chromosomal aberrations, varying from one or a few changes in early-stage and low-grade tumors, to highly rearranged karyotypes in muscle-invasive lesions. Recent array-CGH analyses have shed further light on the genomic changes underlying the neoplasti...

journal_title：BMC medical genomics

authors： Heidenblad M,Lindgren D,Jonson T,Liedberg F,Veerla S,Chebil G,Gudjonsson S,Borg A,Månsson W,Höglund M

更新日期：2008-01-31 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:12q14 microdeletion syndrome is characterized by low birth weight and failure to thrive, proportionate short stature and developmental delay. The opposite syndrome (microduplication) has not yet been characterized. Our main objective is the recognition of a new clinical entity - 12q14 microduplication syndro...

journal_title：BMC medical genomics

authors： Dória S,Alves D,Pinho MJ,Pinto J,Leão M

更新日期：2020-01-03 00:00:00

abstract：BACKGROUND:Neoantigens can be differentially recognized by T cell receptor (TCR) as these sequences are derived from mutant proteins and are unique to the tumor. The discovery of neoantigens is the first key step for tumor-specific antigen (TSA) based immunotherapy. Based on high-throughput tumor genomic analysis, each...

journal_title：BMC medical genomics

authors： Li Y,Wang G,Tan X,Ouyang J,Zhang M,Song X,Liu Q,Leng Q,Chen L,Xie L

更新日期：2020-04-03 00:00:00

abstract：:Sickle cell disease and β thalassemia are common severe diseases with little effective pathophysiologically-based treatment. Their phenotypic heterogeneity prompted genomic approaches to identify modifiers that ultimately might be exploited therapeutically. Fetal hemoglobin (HbF) is the major modulator of the phenotyp...

journal_title：BMC medical genomics

authors： Ngo DA,Steinberg MH

更新日期：2015-07-29 00:00:00

abstract：BACKGROUND:The majority of copy number callers requires high read coverage data that is often achieved with elevated material input, which increases the heterogeneity of tissue samples. However, to gain insights into smaller areas within a tissue sample, e.g. a cancerous area in a heterogeneous tissue sample, less mate...

journal_title：BMC medical genomics

authors： Friedrich S,Barbulescu R,Helleday T,Sonnhammer ELL

更新日期：2020-06-01 00:00:00

abstract：BACKGROUND:The purpose of this paper is to describe the data collection efforts and validation of PhenX measures in the Personalized Medicine Research Project (PMRP) cohort. METHODS:Thirty-six measures were chosen from the PhenX Toolkit within the following domains: demographics; anthropometrics; alcohol, tobacco and ...

journal_title：BMC medical genomics

authors： McCarty CA,Berg R,Rottscheit CM,Waudby CJ,Kitchner T,Brilliant M,Ritchie MD

更新日期：2014-01-14 00:00:00

abstract：BACKGROUND:Fat mass and obesity-associated (FTO) gene has been under close investigation since the discovery of its high impact on the obesity status in 2007 by a range of publications. Recent report on its implication in adipocytes underscored its molecular and functional mechanics in pathology. Still, the population ...

journal_title：BMC medical genomics

authors： Babenko V,Babenko R,Gamieldien J,Markel A

更新日期：2019-03-13 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

abstract：BACKGROUND:Intra-tumor heterogeneity stems from genetic, epigenetic, functional, and environmental differences among tumor cells. A major source of genetic heterogeneity comes from DNA sequence differences and/or whole chromosome and focal copy number variations (CNVs). Whole chromosome CNVs are caused by chromosomal i...

journal_title：BMC medical genomics

authors： Zhao Y,Carter R,Natarajan S,Varn FS,Compton DA,Gawad C,Cheng C,Godek KM

更新日期：2019-05-31 00:00:00

abstract：BACKGROUND:Aberrant epigenetic profiles are concomitant with a spectrum of developmental defects and diseases. Role of methylation is an increasingly accepted factor in the pathophysiology of diabetes and its associated complications. This study aims to examine the correlation between oxidative stress and methylation o...

journal_title：BMC medical genomics

authors： Safi SZ,Qvist R,Yan GO,Ismail IS

更新日期：2014-05-30 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:With the introduction of increasingly powerful mass spectrometry (MS) techniques for clinical research, several recent large-scale MS proteomics studies have sought to characterize the entire human plasma proteome with a general objective for identifying thousands of proteins leaked from tissues in the circu...

journal_title：BMC medical genomics

authors： Saha S,Harrison SH,Shen C,Tang H,Radivojac P,Arnold RJ,Zhang X,Chen JY

更新日期：2008-04-25 00:00:00

abstract：BACKGROUND:In recent years, high-throughput protein interaction identification methods have generated a large amount of data. When combined with the results from other in vivo and in vitro experiments, a complex set of relationships between biological molecules emerges. The growing popularity of network analysis and da...

journal_title：BMC medical genomics

authors： Carson MB,Lu H

更新日期：2015-01-01 00:00:00