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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Dubail J, Huber C, Chantepie S, Sonntag S, Tüysüz B, Mihci E, Gordon CT, Steichen-Gersdorf E, Amiel J, Nur B, Stolte-Dijkstra I, van Eerde AM, van Gassen KL, Breugem CC, Stegmann A, Lekszas C, Maroofian R, Karimiani EG, Bruneel A, Seta N, Munnich A, Papy-Garcia D, De La Dure-Molla M, Cormier-Daire V. Dubail J, et al. Among authors: sonntag s. Nat Commun. 2018 Aug 6;9(1):3087. doi: 10.1038/s41467-018-05191-8. Nat Commun. 2018. PMID: 30082715 Free PMC article.
The WNT1G177C mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV.
Vollersen N, Zhao W, Rolvien T, Lange F, Schmidt FN, Sonntag S, Shmerling D, von Kroge S, Stockhausen KE, Sharaf A, Schweizer M, Karsak M, Busse B, Bockamp E, Semler O, Amling M, Oheim R, Schinke T, Yorgan TA. Vollersen N, et al. Among authors: sonntag s. Bone Res. 2021 Nov 10;9(1):48. doi: 10.1038/s41413-021-00170-0. Bone Res. 2021. PMID: 34759273 Free PMC article.
Impaired calcium homeostasis is associated with sudden cardiac death and arrhythmias in a genetic equivalent mouse model of the human HRC-Ser96Ala variant.
Tzimas C, Johnson DM, Santiago DJ, Vafiadaki E, Arvanitis DA, Davos CH, Varela A, Athanasiadis NC, Dimitriou C, Katsimpoulas M, Sonntag S, Kryzhanovska M, Shmerling D, Lehnart SE, Sipido KR, Kranias EG, Sanoudou D. Tzimas C, et al. Among authors: sonntag s. Cardiovasc Res. 2017 Sep 1;113(11):1403-1417. doi: 10.1093/cvr/cvx113. Cardiovasc Res. 2017. PMID: 28859293
The Matrilin-3 T298M mutation predisposes for post-traumatic osteoarthritis in a knock-in mouse model.
Seifer P, Hay E, Fleischhauer L, Heilig J, Bloch W, Sonntag S, Shmerling D, Clausen-Schaumann H, Aszodi A, Niehoff A, Cohen-Solal M, Paulsson M, Wagener R, Zaucke F. Seifer P, et al. Among authors: sonntag s. Osteoarthritis Cartilage. 2021 Jan;29(1):78-88. doi: 10.1016/j.joca.2020.09.008. Epub 2020 Nov 21. Osteoarthritis Cartilage. 2021. PMID: 33227438 Free article.
103 results