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Page 1
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart D, Lindberg EL, Maatz H, Miranda AMA, Viveiros A, Shvetsov N, Gärtner A, Nadelmann ER, Lee M, Kanemaru K, Ruiz-Orera J, Strohmenger V, DeLaughter DM, Patone G, Zhang H, Woehler A, Lippert C, Kim Y, Adami E, Gorham JM, Barnett SN, Brown K, Buchan RJ, Chowdhury RA, Constantinou C, Cranley J, Felkin LE, Fox H, Ghauri A, Gummert J, Kanda M, Li R, Mach L, McDonough B, Samari S, Shahriaran F, Yapp C, Stanasiuk C, Theotokis PI, Theis FJ, van den Bogaerdt A, Wakimoto H, Ware JS, Worth CL, Barton PJR, Lee YA, Teichmann SA, Milting H, Noseda M, Oudit GY, Heinig M, Seidman JG, Hubner N, Seidman CE. Reichart D, et al. Among authors: stanasiuk c. Science. 2022 Aug 5;377(6606):eabo1984. doi: 10.1126/science.abo1984. Epub 2022 Aug 5. Science. 2022. PMID: 35926050 Free PMC article.
Functional analysis of DES-p.L398P and RBM20-p.R636C.
Brodehl A, Ebbinghaus H, Gaertner-Rommel A, Stanasiuk C, Klauke B, Milting H. Brodehl A, et al. Among authors: stanasiuk c. Genet Med. 2019 May;21(5):1246-1247. doi: 10.1038/s41436-018-0291-2. Epub 2018 Sep 28. Genet Med. 2019. PMID: 30262925 Free article. No abstract available.
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: stanasiuk c. Genes (Basel). 2021 Jan 19;12(1):121. doi: 10.3390/genes12010121. Genes (Basel). 2021. PMID: 33478057 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: stanasiuk c. 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.
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: stanasiuk c. Int J Mol Sci. 2021 Apr 6;22(7):3786. doi: 10.3390/ijms22073786. Int J Mol Sci. 2021. PMID: 33917638 Free PMC article.
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Gaertner A, Klauke B, Felski E, Kassner A, Brodehl A, Gerdes D, Stanasiuk C, Ebbinghaus H, Schulz U, Dubowy KO, Tiesmeier J, Laser KT, Bante H, Bergau L, Sommer P, Fox H, Morshuis M, Gummert J, Milting H. Gaertner A, et al. Among authors: stanasiuk c. Hum Mutat. 2020 Nov;41(11):1931-1943. doi: 10.1002/humu.24096. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32840935
The emergency medical service has a crucial role to unravel the genetics of sudden cardiac arrest in young, out of hospital resuscitated patients: Interim data from the MAP-IT study.
Tiesmeier J, Gaertner A, Homm S, Jakob T, Stanasiuk C, Bachmann-Mennenga B, Henzler D, Grautoff S, Veit G, Hori E, Kellner U, Gummert JF, Hitz MP, Kostareva A, Klingel K, Paluszkiewicz L, Laser KT, Pfeiffer H, Fox H, Milting H. Tiesmeier J, et al. Among authors: stanasiuk c. Resuscitation. 2021 Nov;168:176-185. doi: 10.1016/j.resuscitation.2021.07.042. Epub 2021 Aug 10. Resuscitation. 2021. PMID: 34389451 Free article.
14 results