Genetic disorders of the extracellular matrix
SR Lamandé, JF Bateman - The anatomical record, 2020 - Wiley Online Library
Mutations in the genes for extracellular matrix (ECM) components cause a wide range of
genetic connective tissues disorders throughout the body. The elucidation of mutations and …
genetic connective tissues disorders throughout the body. The elucidation of mutations and …
Identifying collagen VI as a target of fibrotic diseases regulated by CREBBP/EP300
LM Williams, FE McCann, MA Cabrita… - Proceedings of the …, 2020 - National Acad Sciences
Fibrotic diseases remain a major cause of morbidity and mortality, yet there are few effective
therapies. The underlying pathology of all fibrotic conditions is the activity of myofibroblasts …
therapies. The underlying pathology of all fibrotic conditions is the activity of myofibroblasts …
Genomic inbreeding trends, influential sire lines and selection in the global Thoroughbred horse population
The Thoroughbred horse is a highly valued domestic animal population under strong
selection for athletic phenotypes. Here we present a high resolution genomics-based …
selection for athletic phenotypes. Here we present a high resolution genomics-based …
Molecular phenotyping of white striping and wooden breast myopathies in chicken
C Praud, J Jimenez, E Pampouille… - Frontiers in …, 2020 - frontiersin.org
The White Striping (WS) and Wooden Breast (WB) defects are two myopathic syndromes
whose occurrence has recently increased in modern fast-growing broilers. The impact of …
whose occurrence has recently increased in modern fast-growing broilers. The impact of …
Tendon extracellular matrix remodeling and defective cell polarization in the presence of collagen VI mutations
Mutations in collagen VI genes cause two major clinical myopathies, Bethlem myopathy
(BM) and Ullrich congenital muscular dystrophy (UCMD), and the rarer myosclerosis …
(BM) and Ullrich congenital muscular dystrophy (UCMD), and the rarer myosclerosis …
Novel Mutations in COL6A3 That Associated With Peters' Anomaly Caused Abnormal Intracellular Protein Retention and Decreased Cellular Resistance to Oxidative …
Y Li, J Zhang, Y Dai, Y Fan, J Xu - Frontiers in Cell and …, 2020 - frontiersin.org
Peters' anomaly (PA) is a rare form of anterior segment dysgenesis characterized by central
corneal opacity accompanied by iridocorneal or lenticulo-corneal adhesions. Although …
corneal opacity accompanied by iridocorneal or lenticulo-corneal adhesions. Although …
Lower extremity muscle involvement in the intermediate and bethlem myopathy forms of COL6-related dystrophy and duchenne muscular dystrophy: A cross-sectional …
Collagen VI-related dystrophies (COL6-RDs) and Duchenne muscular dystrophy (DMD)
cause progressive muscle weakness and disability. COL6-RDs are caused by mutations in …
cause progressive muscle weakness and disability. COL6-RDs are caused by mutations in …
Matrixmetalloproteasen 1, 2, 3, 9, 13-und Kollagen Typ VI-mRNA-Expression humaner Chondrozyten in verschiedenen räumlichen Organisationsformen
A Egler - 2020 - ub01.uni-tuebingen.de
Die Arthrose (Osteoarthritis/OA) ist eine bis heute noch unvollständig verstandene
Erkrankung und es stehen demnach keine kausal oder präventiv wirkenden biologischen …
Erkrankung und es stehen demnach keine kausal oder präventiv wirkenden biologischen …