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Dominant collagen XII mutations cause a distal myopathy.
Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, Finkel RS, Chen J, Winder TL, Staff NP, Foley AR, Koch M, Bönnemann CG. Mohassel P, et al. Among authors: koch m. Ann Clin Transl Neurol. 2019 Oct;6(10):1980-1988. doi: 10.1002/acn3.50882. Epub 2019 Sep 11. Ann Clin Transl Neurol. 2019. PMID: 31509352 Free PMC article.
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bönnemann CG. Zou Y, et al. Among authors: koch m. Hum Mol Genet. 2014 May 1;23(9):2339-52. doi: 10.1093/hmg/ddt627. Epub 2013 Dec 11. Hum Mol Genet. 2014. PMID: 24334604 Free PMC article.
Amyloidogenicity assessment of transthyretin gene variants.
Grether NB, Napravnik F, Imhof T, Linke RP, Bräsen JH, Schmitz J, Dohrn M, Schneider C, Svačina MKR, Stetefeld J, Koch M, Lehmann HC. Grether NB, et al. Among authors: koch m. Ann Clin Transl Neurol. 2022 Aug;9(8):1252-1263. doi: 10.1002/acn3.51626. Epub 2022 Jul 29. Ann Clin Transl Neurol. 2022. PMID: 35903975 Free PMC article.
Collagen XII interacts with avian tenascin-X through its NC3 domain.
Veit G, Hansen U, Keene DR, Bruckner P, Chiquet-Ehrismann R, Chiquet M, Koch M. Veit G, et al. Among authors: koch m. J Biol Chem. 2006 Sep 15;281(37):27461-70. doi: 10.1074/jbc.M603147200. Epub 2006 Jul 21. J Biol Chem. 2006. PMID: 16861231 Free article.
Role of collagen XII in skin homeostasis and repair.
Schönborn K, Willenborg S, Schulz JN, Imhof T, Eming SA, Quondamatteo F, Brinckmann J, Niehoff A, Paulsson M, Koch M, Eckes B, Krieg T. Schönborn K, et al. Among authors: koch m. Matrix Biol. 2020 Dec;94:57-76. doi: 10.1016/j.matbio.2020.08.002. Epub 2020 Sep 2. Matrix Biol. 2020. PMID: 32890632
3,969 results