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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. Among authors: gummert j. Int J Mol Sci. 2021 Apr 6;22(7):3786. doi: 10.3390/ijms22073786. Int J Mol Sci. 2021. PMID: 33917638 Free PMC article.
Functional characterization of desmin mutant p.P419S.
Brodehl A, Dieding M, Cakar H, Klauke B, Walhorn V, Gummert J, Anselmetti D, Milting H. Brodehl A, et al. Among authors: gummert j. Eur J Hum Genet. 2013 Jun;21(6):589-90. doi: 10.1038/ejhg.2012.212. Epub 2012 Oct 3. Eur J Hum Genet. 2013. PMID: 23032110 Free PMC article. No abstract available.
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. Among authors: gummert j. 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. 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
546 results