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searching for Collagen VI 14 found (28 total)

NIM811 (220 words) [view diff] exact match in snippet view article find links to article

(UCMD) and Bethlem myopathy (BM) disease, diseases altering the genes for collagen VI production. Ma, Sue; Boerner, Joanna E.; TiongYip, ChoiLai; Weidmann

Contracture (907 words) [view diff] exact match in snippet view article find links to article

PMID 34848128. S2CID 240123241. Bönnemann, Carsten G. (2011-06-21). "The collagen VI-related myopathies: muscle meets its matrix". Nature Reviews. Neurology

Pseudohypertrophy (908 words) [view diff] exact match in snippet view article find links to article

ISSN 0028-3886. PMID 20739820. Bönnemann, Carsten G. (2011-06-21). "The collagen VI-related myopathies: muscle meets its matrix". Nature Reviews. Neurology

Muscle contracture (1,907 words) [view diff] exact match in snippet view article find links to article

muscle contractures to develop. In these two myopathies, mutations in collagen VI and XII genes result in deficient or dysfunctional microfibrillar collagen

CSPG4 (1,501 words) [view diff] exact match in snippet view article find links to article

"Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency". Molecular and Cellular Neurosciences. 30 (3): 408–17. doi:10

Mesangial cell (1,601 words) [view diff] exact match in snippet view article find links to article

matrix proteins such as collagen IV (α1 and α2 chains), collagen V, collagen VI, laminin A, B1, B2, fibronectin, and proteoglycans. It is unclear whether

Limb–girdle muscular dystrophy (2,787 words) [view diff] exact match in snippet view article find links to article

descending order, are those due to mutation of 1) calpain, 2) dysferlin, 3) collagen VI, 4) sarcoglycans, 5) anoctamin 5, and 6) fukutin-related protein. In

Germline mosaicism (1,432 words) [view diff] exact match in snippet view article find links to article

Claudio; Ferlini, Alessandra (2015-09-01). "Paternal germline mosaicism in collagen VI related myopathies". European Journal of Paediatric Neurology. 19 (5):

List of neuromuscular disorders (899 words) [view diff] exact match in snippet view article find links to article

deficient) congenital muscular dystrophy (Emery–Dreifuss muscular dystrophy) Collagen VI-related muscular dystrophy (Bethlem myopathy, Ullrich congenital muscular

Mitochondrial permeability transition pore (3,440 words) [view diff] exact match in snippet view article find links to article

"Dysfunction of Mitochondria and Sarcoplasmic Reticulum in the Pathogenesis of Collagen VI Muscular Dystrophies". Annals of the New York Academy of Sciences. 1147

Fibrillogenesis (1,054 words) [view diff] exact match in snippet view article find links to article

accelerates collagen fibril formation through an additive mechanism when collagen VI is present. In addition to tenascin X, multiple proteins, glycoconjugates

Dick Heinegård (804 words) [view diff] exact match in snippet view article find links to article

(2003-09-26). "Complexes of matrilin-1 and biglycan or decorin connect collagen VI microfibrils to both collagen II and aggrecan". The Journal of Biological

Anton Yuryev (2,036 words) [view diff] exact match in snippet view article find links to article

CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E

Rigid spine syndrome (2,085 words) [view diff] exact match in snippet view article find links to article

gov. Retrieved 2024-04-11. Bönnemann, Carsten G. (2011-06-21). "The collagen VI-related myopathies: muscle meets its matrix". Nature Reviews. Neurology