Collagens and collagen-related diseases
Annals of Medicine, 2001 The collagen superfamily of proteins plays a dominant role in maintaining the integrity of various tissues and also has a number of other important functions. The superfamily now includes more than 20 collagen types with altogether at least 38 distinct polypeptide chains, and more than 15 additional proteins that have collagen-like domains.
J, Myllyharju, K I, Kivirikko
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Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke [PDF]
, 2013 Haemorrhagic stroke accounts for approximately 20% of stroke cases and porencephaly is a clinical consequence of perinatal cerebral haemorrhaging. Here we report the identification of a novel dominant G702D mutation in the collagen domain of COL4A2 ...
Aislynn Taggart +35 more
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Does urinary peptide content differ between COPD patients with and without inherited alpha-1 antitrypsin deficiency? [PDF]
, 2017 Differentiating between chronic obstructive pulmonary disease (COPD) patients with normal (PiMM) or deficient (PiZZ) genetic variants of alpha-1 antitrypsin (A1AT) is important not only for understanding the pathobiology of disease progression but also ...
Carleo, Alfonso +7 more
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Jornal de Pediatria, 2001 OBJETIVO: descrever um caso clínico raro na infância, com achados clínicos da síndrome do anticorpo antifosfolípide. DESCRIÇÃO: criança, sexo masculino, com 2 anos e 6 meses de idade, com insuficiência renal, trombose da artéria renal e diagnóstico de ...
Célia S. Macedo +3 more
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The role of changes in extracellular matrix of cartilage in the presence of inflammation on the pathology of osteoarthritis. [PDF]
, 2013 Osteoarthritis (OA) is a degenerative disease that affects various tissues surrounding joints such as articular cartilage, subchondral bone, synovial membrane, and ligaments.
Maldonado, Maricela, Nam, Jin
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Targeting inflammation with collagen
Clinical and Translational Medicine, 2022 Tissue damage caused by an infection or an autoimmune disease triggers degradation of collagen in the extracellular matrix (ECM), which further enhances inflammation.
Dennis Schwarz +3 more
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Whole-genome sequencing and the clinician: a tale of two cities [PDF]
, 2014 Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing.
A. R. Foley +21 more
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Collagen XVII Processing and Blistering Skin Diseases
Acta Dermato-Venereologica, 2020 Collagen XVII (COL17) is a hemidesmosomal transmembrane protein in the skin, which, in several autoimmune blistering skin diseases, may be targeted by autoantibodies.
Wataru Nishie
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Hearing impairment in Stickler syndrome: a systematic review [PDF]
, 2012 BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance ...
Acke, Frederic +3 more
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Identifying nonalcoholic fatty liver disease patients with active fibrosis by measuring extracellular matrix remodeling rates in tissue and blood. [PDF]
, 2016 Excess collagen synthesis (fibrogenesis) in the liver plays a causal role in the progression of nonalcoholic fatty liver disease (NAFLD). Methods are needed to identify patients with more rapidly progressing disease and to demonstrate early response to ...
Angel, Thomas E +16 more
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