BMC Medical Genomics
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iOPTICS-GSO for identifying protein complexes from dynamic PPI networks
BMC Medical Genomics - Tập 10 Số 5 - Trang 55-66 - 2017
Identifying protein complexes plays an important role for understanding cellular organization and functional mechanisms. As plenty of evidences have indicated that dense sub-networks in dynamic protein-protein interaction network (DPIN) usually correspond to protein complexes, identifying protein complexes is formulated as density-based clustering. In this paper, a new approach named iOPTICS-GSO i...... hiện toàn bộ
Genetic and epigenetic associations of ANRIL with coronary artery disease and risk factors
BMC Medical Genomics - Tập 14 - Trang 1-12 - 2021
Both DNA genotype and methylation of antisense non-coding RNA in the INK4 locus (ANRIL) have been robustly associated with coronary artery disease (CAD), but the interdependent mechanisms of genotype and methylation remain unclear. Eighteen tag single nucleotide polymorphisms (SNPs) of ANRIL were genotyped in a matched case–control study (cases 503 and controls 503). DNA methylation of ANRIL and t...... hiện toàn bộ
Circulating adiponectin levels, expression of adiponectin receptors, and methylation of adiponectin gene promoter in relation to Alzheimer’s disease
BMC Medical Genomics - Tập 15 - Trang 1-10 - 2022
The role of adiponectin (ADIPOQ) in Alzheimer’s disease (AD) has been documented, however, demonstrating controversial results. In this study, we investigated blood serum ADIPOQ levels, methylation of the adiponectin gene promoter, and adiponectin receptors (AdipoR1 and AdipoR2) expression in blood samples isolated from AD patients and healthy controls.
We performed a case–control study including...... hiện toàn bộ
Identification of DNA methylation changes associated with human gastric cancer
BMC Medical Genomics - Tập 4 - Trang 1-15 - 2011
Epigenetic alteration of gene expression is a common event in human cancer. DNA methylation is a well-known epigenetic process, but verifying the exact nature of epigenetic changes associated with cancer remains difficult. We profiled the methylome of human gastric cancer tissue at 50-bp resolution using a methylated DNA enrichment technique (methylated CpG island recovery assay) in combination wi...... hiện toàn bộ
A pan-cancer study of class-3 semaphorins as therapeutic targets in cancer
BMC Medical Genomics - Tập 13 - Trang 1-14 - 2020
Initially characterized as axon guidance factors, semaphorins also have been implicated to have critical roles in multiple physiological and developmental functions, including the regulation of immune responses, angiogenesis, organ formation, and the etiology of multiple forms of cancer. Moreover, their contribution in immunity and the regulation of tumour microenvironment is becoming increasingly...... hiện toàn bộ
The genetic landscape of inherited retinal dystrophies in ArabsAbstract Inherited retinal dystrophies (IRDs) are a major cause of vision loss. Altogether are highly heterogeneous genotypically and phenotypically, exhibiting substantial differences worldwide. To shed more light on these conditions, we investigated the genetic and phenotypic landscape of IRDs in the Arabs globally and per country. We analyzed 1,62... ... hiện toàn bộ
BMC Medical Genomics - Tập 16 Số 1
A novel somatic BRCA2 point mutation in a metastatic pancreatic cancer patient: a case report
BMC Medical Genomics - Tập 14 - Trang 1-5 - 2021
In addition to ovarian and breast cancers, loss-of-function mutations in BRCA1 and BRCA2 genes are also linked to an increased risk of pancreatic cancer, with ~ 4 to 7% of pancreatic cancer patients harboring germline BRCA mutations. Most BRCA alterations in pancreatic cancer are frame-shifting indels, stop-gain, and splice-site mutations, but single nucleotide substitutions are rare. Recent studi...... hiện toàn bộ
Genetic integrity of the human Y chromosome exposed to groundwater arsenic
BMC Medical Genomics - Tập 3 - Trang 1-12 - 2010
Arsenic is a known human carcinogen reported to cause chromosomal deletions and genetic anomalies in cultured cells. The vast human population inhabiting the Ganges delta in West Bengal, India and Bangladesh is exposed to critical levels of arsenic present in the groundwater. The genetic and physiological mechanism of arsenic toxicity in the human body is yet to be fully established. In addition, ...... hiện toàn bộ
Causal associations between liver traits and Colorectal cancer: a Mendelian randomization study
BMC Medical Genomics - Tập 16 - Trang 1-9 - 2023
This study aimed to investigate the causal associations between several liver traits (liver iron content, percent liver fat, alanine transaminase levels, and liver volume) and colorectal cancer (CRC) risk using a Mendelian randomization (MR) approach to improve our understanding of the disease and its management. Genetic variants were used as instrumental variables, extracted from genome-wide asso...... hiện toàn bộ
Worldwide population differentiation at disease-associated SNPs
BMC Medical Genomics - Tập 1 - Trang 1-10 - 2008
Recent genome-wide association (GWA) studies have provided compelling evidence of association between genetic variants and common complex diseases. These studies have made use of cases and controls almost exclusively from populations of European ancestry and little is known about the frequency of risk alleles in other populations. The present study addresses the transferability of disease associat...... hiện toàn bộ
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