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The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Redin C, Pavlidou DC, Bhuiyan Z, Porretta AP, Monney P, Bedoni N, Maurer F, Sekarski N, Atallah I, Émeline D, Jeanrenaud X, Pruvot E, Fellay J, Superti-Furga A. Redin C, et al. Eur J Med Genet. 2022 Dec;65(12):104627. doi: 10.1016/j.ejmg.2022.104627. Epub 2022 Sep 24. Eur J Med Genet. 2022. PMID: 36162733 Free article.
Cross-species analysis of viral nucleic acid interacting proteins identifies TAOKs as innate immune regulators.
Pennemann FL, Mussabekova A, Urban C, Stukalov A, Andersen LL, Grass V, Lavacca TM, Holze C, Oubraham L, Benamrouche Y, Girardi E, Boulos RE, Hartmann R, Superti-Furga G, Habjan M, Imler JL, Meignin C, Pichlmair A. Pennemann FL, et al. Nat Commun. 2021 Dec 1;12(1):7009. doi: 10.1038/s41467-021-27192-w. Nat Commun. 2021. PMID: 34853303 Free PMC article.
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A. Zankl A, et al. Am J Med Genet A. 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531. Am J Med Genet A. 2005. PMID: 15643621