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pro vyhledávání: '"Kemppainen, A. V. (A. V.)"'
Autor:
Kemppainen, A. V. (A. V.), Finnilä, M. A. (M. A.), Heikkinen, A. (A.), Härönen, H. (H.), Izzi, V. (V.), Kauppinen, S. (S.), Saarakkala, S. (S.), Pihlajaniemi, T. (T.), Koivunen, J. (J.)
Mutations in the COL13A1 gene result in congenital myasthenic syndrome type 19 (CMS19), a disease of neuromuscular synapses and including various skeletal manifestations, particularly facial dysmorphisms. The phenotypic consequences in Col13a1 null m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::5d6ebc49adf877fe06248504d428d6f6
http://urn.fi/urn:nbn:fi-fe2022102563245
http://urn.fi/urn:nbn:fi-fe2022102563245
Autor:
Härönen, H. (Heli), Zainul, Z. (Zarin), Naumenko, N. (Nikolay), Sormunen, R. (Raija), Miinalainen, I. (Ilkka), Shakirzyanova, A. (Anastasia), Santoleri, S. (Sabrina), Kemppainen, A. V. (Antti V.), Giniatullin, R. (Rashid), Pihlajaniemi, T. (Taina), Heikkinen, A. (Anne)
Transmembrane collagen XIII has been linked to maturation of the musculoskeletal system. Its absence in mice (Col13a1−/−) results in impaired neuromuscular junction (NMJ) differentiation and function, while transgenic overexpression (Col13a1oe) l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::bb87aa78bb700e42dad58aaffe843b20
http://urn.fi/urn:nbn:fi-fe201902205808
http://urn.fi/urn:nbn:fi-fe201902205808