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Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.
Br J Dermatol
January 2025
Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.
View Article and Find Full Text PDFMyotonia Congenita in Australian Merino Sheep with a Missense Variant in .
Animals (Basel)
December 2024
Sydney School of Veterinary Science, The University of Sydney, Camden, NSW 2570, Australia.
Myotonia congenita is a hereditary, non-dystrophic skeletal muscle disorder associated with muscle stiffness due to delayed muscle relaxation after contraction. We review myotonia congenita in domesticated animals and humans and investigated suspected myotonia congenita in a flock of Merino sheep in Australia. In 2020, a property in New South Wales reported a four-year history of lambs that would fall on disturbance before rapidly recovering, with 13 affected sheep identified in 2020.
View Article and Find Full Text PDFAdvanced phasing techniques in congenital skin diseases.
J Dermatol
December 2024
Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Phasing, the process of determining which alleles at different loci on homologous chromosomes belong together on the same chromosome, is crucial in the diagnosis and management of autosomal recessive diseases. Advances in long-read sequencing technologies have significantly enhanced our ability to accurately determine haplotypes. This review discusses the application of low-coverage long-read sequencing, nanopore Cas9-guided long-read sequencing, and adaptive sampling in phasing, highlighting their utility in complex clinical scenarios.
View Article and Find Full Text PDFCongenital Titinopathies Linked to Mutations in Metatranscript-Only Exons.
Int J Mol Sci
December 2024
Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.
Article Synopsis
- Congenital titinopathies are inherited in an autosomal recessive pattern and primarily result from genetic variations in metatranscript (MTT)-only exons, leading to diverse clinical outcomes.
- The study analyzed 20 patients with these variants, revealing severe congenital myopathy at birth along with a wide range of associated issues like muscular weakness and respiratory problems.
- Findings underscore the importance of genotype-phenotype correlations, enhancing understanding of the genetic basis and molecular mechanisms behind these conditions.
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa.
Eur J Hum Genet
December 2024
Laboratory of Genetic Skin Diseases, Institut Imagine, Université Paris Cité, Inserm, UMR 1163, F-75015, Paris, France.
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genodermatosis characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic complications. RDEB is caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the main component of anchoring fibrils which form attachment structures stabilizing the cutaneous basement membrane zone. Most of the previously reported COL7A1 mutations are located in the coding or intronic regions.
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