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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. Int J Mol Sci. 2021 Apr 6;22(7):3786. doi: 10.3390/ijms22073786. Int J Mol Sci. 2021. PMID: 33917638 Free PMC article.
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. Int J Mol Sci. 2021 Jun 24;22(13):6775. doi: 10.3390/ijms22136775. Int J Mol Sci. 2021. PMID: 34202524 Free PMC article.
Blood taken immediately after fatal resuscitation attempts yields higher quality DNA for genetic studies as compared to autopsy samples.
Stanasiuk C, Milting H, Homm S, Persson J, Holtz L, Wittmer A, Fox H, Laser T, Knöll R, Pohl GM, Paluszkiewicz L, Jakob T, Bachmann-Mennenga B, Henzler D, Grautoff S, Veit G, Klingel K, Hori E, Kellner U, Karger B, Schlepper S, Pfeiffer H, Gummert J, Gärtner A, Tiesmeier J. Stanasiuk C, et al. Among authors: pohl gm. Int J Legal Med. 2023 Sep;137(5):1569-1581. doi: 10.1007/s00414-023-02966-7. Epub 2023 Feb 11. Int J Legal Med. 2023. PMID: 36773088 Free PMC article.
Functional impact of the head domain variants of DES (Desmin) on filament assembly.
Voß S, Walhorn V, Holler S, Gärtner A, Pohl G, Tiesmeier J, Gummert J, Anselmetti D, Milting H, Brodehl A. Voß S, et al. Among authors: pohl g. Genes Dis. 2024 Feb 2;12(1):101238. doi: 10.1016/j.gendis.2024.101238. eCollection 2025 Jan. Genes Dis. 2024. PMID: 39650696 Free PMC article. No abstract available.
Protecting stable biological nomenclatural systems enables universal communication: A collective international appeal.
Jiménez-Mejías P, Manzano S, Gowda V, Krell FT, Lin MY, Martín-Bravo S, Martín-Torrijos L, Nieto Feliner G, Mosyakin SL, Naczi RFC, Acedo C, Álvarez I, Crisci JV, Luceño Garcés M, Manning J, Moreno Saiz JC, Muasya AM, Riina R, Meseguer AS, Sánchez-Mata D; 1543 additional coauthors. Jiménez-Mejías P, et al. Bioscience. 2024 Jun 19;74(7):467-472. doi: 10.1093/biosci/biae043. eCollection 2024 Jul. Bioscience. 2024. PMID: 39156614 Free PMC article.
197 results