Genomics of muscle disorders

Mosaic mutations acquired during early embryogenesis can lead to severe early-onset genetic disorders and cancer predisposition, but are often undetectable in blood samples. The rate and mutational spectrum of embryonic mosaic mutations (EMMs) have only been studied in few tissues, and their contribution to genetic disorders is unknown.

14p vibransone 28-03-2024 2 2   Download

Fecal microbiota transplantation (FMT) has demonstrated efficacy in treating inflammatory bowel diseases and irritable bowel syndrome in an increasing number of randomized controlled trials. Recently published data gives striking insights into the factors associated with FMT success paving the road for the use of precision medicine in gastrointestinal disorders.

4p vibransone 28-03-2024 9 2   Download

Genome-wide association studies have shown unequivocally that common complex disorders have a polygenic genetic architecture and have enabled researchers to identify genetic variants associated with diseases. These variants can be combined into a polygenic risk score that captures part of an individual’s susceptibility to diseases.

11p vibransone 28-03-2024 7 1   Download

Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints. It is important to fully understand the order and orientation of rearranged fragments, with precise breakpoints, to know the pathogenicity of the rearrangements.

17p vibransone 28-03-2024 3 2   Download

Part2 book "Equine genomics" includes content: Genomics of skin disorders, genomics of muscle disorders, genomics of skeletal disorders, genomics of reproduction and fertility, genetics of equine neurologic disease, molecular genetic testing and karyotyping in the horse, genomics of laminitis, genomics of performance, genomics of the circadian clock, mitochondrial genome - Clues about the evolution of extant equids and genomic diversity of horse breeds.

178p oursky04 14-09-2023 4 2   Download

Accumulation of protein aggregates are a major hallmark of progressive neurodegenerative disorders such as Parkinson’s disease and Alzheimer’s disease. Transgenic Caenorhabditis elegans nematodes expressing the human synaptic protein α-synuclein in body wall muscle show inclusions of aggregated protein, which affects similar genetic pathways as in humans.

12p visilicon2711 20-08-2021 8 1   Download

Ehlers Danlos Syndrome is a rare form of inherited connective tissue disorder, which primarily affects skin, joints, muscle, and blood cells. The current study aimed at finding the mutation that causing EDS type VII C also known as “Dermatosparaxis” in this family.

10p vioregon2711 22-02-2021 7 2   Download

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Genomic studies of mood disorders - the brain as a muscle?

4p thulanh19 09-11-2011 32 1   Download