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De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting Agents.
Hassoun R, Budde H, Mannherz HG, Lódi M, Fujita-Becker S, Laser KT, Gärtner A, Klingel K, Möhner D, Stehle R, Sultana I, Schaaf T, Majchrzak M, Krause V, Herrmann C, Nowaczyk MM, Mügge A, Pfitzer G, Schröder RR, Hamdani N, Milting H, Jaquet K, Cimiotti D. Hassoun R, et al. Among authors: gartner a. Int J Mol Sci. 2021 Sep 6;22(17):9625. doi: 10.3390/ijms22179625. Int J Mol Sci. 2021. PMID: 34502534 Free PMC article.
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.
Brodehl A, Meshkov A, Myasnikov R, Kiseleva A, Kulikova O, Klauke B, Sotnikova E, Stanasiuk C, Divashuk M, Pohl GM, Kudryavtseva M, Klingel K, Gerull B, Zharikova A, Gummert J, Koretskiy S, Schubert S, Mershina E, Gärtner A, Pilus P, Laser KT, Sinitsyn V, Boytsov S, Drapkina O, Milting H. Brodehl A, et al. Among authors: gartner a. Int J Mol Sci. 2021 Apr 6;22(7):3786. doi: 10.3390/ijms22073786. Int J Mol Sci. 2021. PMID: 33917638 Free PMC article.
A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
Brodehl A, Weiss J, Debus JD, Stanasiuk C, Klauke B, Deutsch MA, Fox H, Bax J, Ebbinghaus H, Gärtner A, Tiesmeier J, Laser T, Peterschröder A, Gerull B, Gummert J, Paluszkiewicz L, Milting H. Brodehl A, et al. Among authors: gartner a. J Mol Cell Cardiol. 2020 Apr;141:17-29. doi: 10.1016/j.yjmcc.2020.03.006. Epub 2020 Mar 19. J Mol Cell Cardiol. 2020. PMID: 32201174 Free article.
The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy.
Kulikova O, Brodehl A, Kiseleva A, Myasnikov R, Meshkov A, Stanasiuk C, Gärtner A, Divashuk M, Sotnikova E, Koretskiy S, Kharlap M, Kozlova V, Mershina E, Pilus P, Sinitsyn V, Milting H, Boytsov S, Drapkina O. Kulikova O, et al. Among authors: gartner a. Genes (Basel). 2021 Jan 19;12(1):121. doi: 10.3390/genes12010121. Genes (Basel). 2021. PMID: 33478057 Free PMC article.
352 results