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Section edited by Kun Huang
This section considers studies of change in the expression and regulation of genes and genomes conducted at a genomic scale in relation to health and disease states.
Research article
Reliable exon recognition is key to the splicing of pre-mRNAs into mature mRNAs. TDP-43 is an RNA-binding protein whose nuclear loss and cytoplasmic aggregation are a hallmark pathology in amyotrophic lateral ...
BMC Medical Genomics 2017 10:38
Published on: 26 May 2017
Research article
Both ambulatory atrial fibrillation (AF) and post-operative AF (poAF) are associated with substantial morbidity and mortality. Analyzing the tissue-specific gene expression in the left atrium (LA) can identify...
BMC Medical Genomics 2017 10:25
Published on: 2 May 2017
Research article
Mechanisms that inactivate the p53 pathway in Acute Myeloid Leukemia (AML), other than rare mutations, are still not well understood.
BMC Medical Genomics 2017 10:18
Published on: 24 March 2017
Research article
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating idiopathic disease characterized by unexplained fatigue that fails to resolve with sufficient rest. Diagnosis is based on a list of...
BMC Medical Genomics 2017 10:11
Published on: 23 February 2017
Research article
Primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC) are forms of hepatic autoimmunity, and risk for both diseases has a strong genetic component. This study aimed to define the genetic a...
BMC Medical Genomics 2017 10:2
Published on: 6 January 2017
Research article
Bivalent chromatin refers to overlapping regions containing activating histone H3 Lys4 trimethylation (H3K4me3) and inactivating H3K27me3 marks. Existence of such bivalent marks on the same nucleosome has only...
BMC Medical Genomics 2016 9:60
Published on: 15 September 2016
Research article
The observation that the genetic variants identified in genome-wide association studies (GWAS) frequently lie in non-coding regions of the genome that contain cis-regulatory elements suggests that altered gene ex...
BMC Medical Genomics 2016 9:59
Published on: 13 September 2016
Research article
The high cost and the long time required to bring drugs into commerce is driving efforts to repurpose FDA approved drugs—to find new uses for which they weren’t intended, and to thereby reduce the overall cost...
BMC Medical Genomics 2016 9:51
Published on: 30 July 2016
Research article
Non-cellular blood circulating microRNAs (plasma miRNAs) represent a promising source for the development of prognostic and diagnostic tools owing to their minimally invasive sampling, high stability, and simp...
BMC Medical Genomics 2015 8:61
Published on: 14 October 2015
Research article
Molecular stratification of bladder cancer has revealed gene signatures differentially expressed across tumor subtypes. While these signatures provide important insights into subtype biology, the transcription...
BMC Medical Genomics 2015 8:25
Published on: 26 May 2015
Research article
The effects of dose-rate and its implications on radiation biodosimetry methods are not well studied in the context of large-scale radiological scenarios. There are significant health risks to individuals expo...
BMC Medical Genomics 2015 8:22
Published on: 12 May 2015
Research article
Metabolic syndrome (MetS) is characterized by central obesity, insulin resistance, dysglycemia, and a pro-atherogenic plasma lipid profile. MetS creates a high risk for development of type 2 diabetes (T2DM) an...
BMC Medical Genomics 2015 8:20
Published on: 9 May 2015
Research article
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 ...
BMC Medical Genomics 2015 8:17
Published on: 6 May 2015
Research article
Ciguatoxins (CTXs) are polyether marine neurotoxins found in multiple reef-fish species and are potent activators of voltage-gated sodium channels. It is estimated that up to 500,000 people annually experience...
BMC Medical Genomics 2015 8:15
Published on: 2 April 2015
Research article
Statin therapy plays a pivotal role in stabilizing the plaque for unstable angina (UA) patients although its mechanism(s) remains largely unexplored. Here we aim to identify microRNAs (miRNAs) mediating the pr...
BMC Medical Genomics 2015 8:12
Published on: 13 March 2015
Research article
MicroRNAs (miRNAs) are small non-coding RNAs that recognize sites of complementarity of target messenger RNAs, resulting in transcriptional regulation and translational repression of target genes. In Huntingto...
BMC Medical Genomics 2015 8:10
Published on: 1 March 2015
Research article
Atherosclerosis severity-independent alterations in DNA methylation, a reversible and highly regulated DNA modification, have been detected in aortic atheromas, thus supporting the hypothesis that epigenetic m...
BMC Medical Genomics 2015 8:7
Published on: 27 February 2015
Research article
Clinically nonfunctional pituitary adenomas (NFPAs) without any clinical elevation of hormone and with a difficulty in its early-stage diagnosis are highly heterogeneous with different hormone expressions in N...
BMC Medical Genomics 2014 7:69
Published on: 24 December 2014
Research article
Mitochondrial DNA mutations may be associated with cardiovascular disease, including the common cardiac vascular disease, hypertension.
BMC Medical Genomics 2014 7:73
Published on: 24 December 2014
Research article
Sleep quality and genetics may contribute to the etiology of gastrointestinal (GI) symptoms. Individuals with impaired sleep often have a number of associated symptoms including chronic abdominal pain (CAP). T...
BMC Medical Genomics 2014 7:61
Published on: 31 October 2014
