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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: milting h. Science. 2022 Aug 5;377(6606):eabo1984. doi: 10.1126/science.abo1984. Epub 2022 Aug 5. Science. 2022. PMID: 35926050 Free PMC article.
The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.
Milting H, Klauke B, Christensen AH, Müsebeck J, Walhorn V, Grannemann S, Münnich T, Šarić T, Rasmussen TB, Jensen HK, Mogensen J, Baecker C, Romaker E, Laser KT, zu Knyphausen E, Kassner A, Gummert J, Judge DP, Connors S, Hodgkinson K, Young TL, van der Zwaag PA, van Tintelen JP, Anselmetti D. Milting H, et al. Eur Heart J. 2015 Apr 7;36(14):872-81. doi: 10.1093/eurheartj/ehu077. Epub 2014 Mar 4. Eur Heart J. 2015. PMID: 24598986
Tricuspid valve repair in patients with left-ventricular assist device implants and tricuspid valve regurgitation: propensity score-adjusted analysis of clinical outcome.
Oezpeker C, Zittermann A, Paluszkiewicz L, Piran M, Puehler T, Sayin AO, Ensminger S, Milting H, Morshuis M, Gummert JF. Oezpeker C, et al. Among authors: milting h. Interact Cardiovasc Thorac Surg. 2015 Dec;21(6):741-7. doi: 10.1093/icvts/ivv260. Epub 2015 Sep 14. Interact Cardiovasc Thorac Surg. 2015. PMID: 26371151
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
154 results