Showing Results for
- Academic Journals (22)
Search Results
- 22
Academic Journals
- 22
- Search Terms:
- 1From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground Genetic variation in NOD2 and cigarette smoking are well-established risk factors for the development of Crohn's disease (CD). However, little is known about a potential interaction between these risk...
- 2From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms (MPNs) characterized in most cases by a unique somatic mutation, JAK2 V617F. Recent...
- 3From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground The discovery of genetic associations is an important factor in the understanding of human illness to derive disease pathways. Identifying multiple interacting genetic mutations associated with disease...
- 4From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that...
- 5From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a...
- 6From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground APPL1 and APPL2 are two adaptor proteins, which can mediate adiponectin signaling via binding to N terminus of adiponectin receptors in muscle cells. Genes encoding adiponectin and adiponectin receptors...
- 7From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground A genome-wide association scan with subsequent replication study that involved over 67,000 individuals of European ancestry has produced evidence of association of single nucleotide polymorphism rs2277831...
- 8From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground In X-linked dilated cardiomyopathy due to dystrophin mutations which abolish the expression of the M isoform (5'-XLDC), the skeletal muscle is spared through the up-regulation of the Brain (B) isoform, a...
- 9From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb. BDE may occur as an...
- 10From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these...
- 11From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground Mucins are highly glycosylated proteins protecting and lubricating epithelial surface of respiratory, gastrointestinal and reproductive tracts. Members of the mucin protein family have been suggested to...
- 12From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground Variations within the FOXA family have been studied for a putative contribution to the risk of type 2 diabetes (T2D), and recently the minor T-allele of FOXA2 rs1209523 was reported to associate with...
- 13From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are...
- 14From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground There is reason to expect strong genetic influences on the risk of developing active pulmonary tuberculosis (TB) among latently infected individuals. Many of the genome wide linkage and association studies...
- 15From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground Type 2 diabetes mellitus (T2DM) is a complex endocrine and metabolic disorder. Recently, several genome-wide association studies (GWAS) have identified many novel susceptibility loci for T2DM, and...
- 16From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground Survivin, one of the strongest apoptosis inhibitors, plays a critical role in the development and progression of hepatocellular carcinoma (HCC). By comparison, relatively little is known about the effect...
- 17From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground The purpose of this study was to estimate the genetic influences on the initiation of cigarette smoking, the persistence, quantity and age-at-onset of regular cigarette use in Brazilian families....
- 18From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground Fragile X syndrome (FXS), the leading cause of inherited mental retardation, is due to expansion and methylation of a CGG sequence in the FMR1 gene, which result in its silencing and consequent absence of...
- 19From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground There are no known causes for progressive supranuclear palsy (PSP). The microtubule associated protein tau (MAPT) H1 haplotype is the major genetic factor associated with risk of PSP, with both oxidative...
- 20From: BMC Medical Genetics. (Vol. 13) Peer-ReviewedBackground Genome-wide association studies (GWAS) provide an increasing number of single nucleotide polymorphisms (SNPs) associated with diseases. Our aim is to exploit those closely spaced SNPs in candidate regions...