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The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.
Myasnikov R, Brodehl A, Meshkov A, Kulikova O, Kiseleva A, Pohl GM, Sotnikova E, Divashuk M, Klimushina M, Zharikova A, Pokrovskaya M, Koretskiy S, Kharlap M, Mershina E, Sinitsyn V, Basargina E, Gandaeva L, Barskiy V, Boytsov S, Milting H, Drapkina O. Myasnikov R, et al. Among authors: milting h. Int J Mol Sci. 2021 Jun 24;22(13):6775. doi: 10.3390/ijms22136775. Int J Mol Sci. 2021. PMID: 34202524 Free PMC article.
Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
Brodehl A, Dieding M, Biere N, Unger A, Klauke B, Walhorn V, Gummert J, Schulz U, Linke WA, Gerull B, Vorgert M, Anselmetti D, Milting H. Brodehl A, et al. Among authors: milting h. J Mol Cell Cardiol. 2016 Feb;91:207-14. doi: 10.1016/j.yjmcc.2015.12.015. Epub 2015 Dec 23. J Mol Cell Cardiol. 2016. PMID: 26724190
The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.
Brodehl A, Gaertner-Rommel A, Klauke B, Grewe SA, Schirmer I, Peterschröder A, Faber L, Vorgerd M, Gummert J, Anselmetti D, Schulz U, Paluszkiewicz L, Milting H. Brodehl A, et al. Among authors: milting h. Hum Mutat. 2017 Aug;38(8):947-952. doi: 10.1002/humu.23248. Epub 2017 Jun 21. Hum Mutat. 2017. PMID: 28493373
Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
Bermúdez-Jiménez FJ, Carriel V, Brodehl A, Alaminos M, Campos A, Schirmer I, Milting H, Abril BÁ, Álvarez M, López-Fernández S, García-Giustiniani D, Monserrat L, Tercedor L, Jiménez-Jáimez J. Bermúdez-Jiménez FJ, et al. Among authors: milting h. Circulation. 2018 Apr 10;137(15):1595-1610. doi: 10.1161/CIRCULATIONAHA.117.028719. Epub 2017 Dec 6. Circulation. 2018. PMID: 29212896 Free article.
154 results