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Page 1
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: laser kt. Hum Mutat. 2020 Nov;41(11):1931-1943. doi: 10.1002/humu.24096. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32840935
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: laser kt. 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
Targeted metabolomic analysis of serum phospholipid and acylcarnitine in the adult Fontan patient with a dominant left ventricle.
Michel M, Dubowy KO, Zlamy M, Karall D, Adam MG, Entenmann A, Keller MA, Koch J, Odri Komazec I, Geiger R, Salvador C, Niederwanger C, Müller U, Scholl-Bürgi S, Laser KT. Michel M, et al. Among authors: laser kt. Ther Adv Chronic Dis. 2020 Apr 27;11:2040622320916031. doi: 10.1177/2040622320916031. eCollection 2020. Ther Adv Chronic Dis. 2020. PMID: 32426103 Free PMC article.
Method comparison of HPLC-ninhydrin-photometry and UHPLC-PITC-tandem mass spectrometry for serum amino acid analyses in patients with complex congenital heart disease and controls.
Michel M, Salvador C, Wiedemair V, Adam MG, Laser KT, Dubowy KO, Entenmann A, Karall D, Geiger R, Zlamy M, Scholl-Bürgi S. Michel M, et al. Among authors: laser kt. Metabolomics. 2020 Dec 15;16(12):128. doi: 10.1007/s11306-020-01741-8. Metabolomics. 2020. PMID: 33319318 Free PMC 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: laser kt. 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 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: laser kt. Resuscitation. 2021 Nov;168:176-185. doi: 10.1016/j.resuscitation.2021.07.042. Epub 2021 Aug 10. Resuscitation. 2021. PMID: 34389451 Free article.
De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting Agents.
Hassoun R, Budde H, Mannherz HG, Lódi M, Fujita-Becker S, Laser KT, Gärtner A, Klingel K, Möhner D, Stehle R, Sultana I, Schaaf T, Majchrzak M, Krause V, Herrmann C, Nowaczyk MM, Mügge A, Pfitzer G, Schröder RR, Hamdani N, Milting H, Jaquet K, Cimiotti D. Hassoun R, et al. Among authors: laser kt. Int J Mol Sci. 2021 Sep 6;22(17):9625. doi: 10.3390/ijms22179625. Int J Mol Sci. 2021. PMID: 34502534 Free PMC article.
Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?
Seidel F, Laser KT, Klingel K, Dartsch J, Theisen S, Pickardt T, Holtgrewe M, Gärtner A, Berger F, Beule D, Milting H, Schubert S, Klaassen S, Kühnisch J. Seidel F, et al. Among authors: laser kt. J Cardiovasc Dev Dis. 2022 Jul 5;9(7):216. doi: 10.3390/jcdd9070216. J Cardiovasc Dev Dis. 2022. PMID: 35877578 Free PMC article.
70 results