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The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.
Knöll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, Hayashi T, Shiga N, Yasukawa H, Schaper W, McKenna W, Yokoyama M, Schork NJ, Omens JH, McCulloch AD, Kimura A, Gregorio CC, Poller W, Schaper J, Schultheiss HP, Chien KR. Knöll R, et al. Cell. 2002 Dec 27;111(7):943-55. doi: 10.1016/s0092-8674(02)01226-6. Cell. 2002. PMID: 12507422 Free article.
Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.
Vikhorev PG, Smoktunowicz N, Munster AB, Copeland O, Kostin S, Montgiraud C, Messer AE, Toliat MR, Li A, Dos Remedios CG, Lal S, Blair CA, Campbell KS, Guglin M, Richter M, Knöll R, Marston SB. Vikhorev PG, et al. Among authors: knoll r. Sci Rep. 2017 Nov 1;7(1):14829. doi: 10.1038/s41598-017-13675-8. Sci Rep. 2017. PMID: 29093449 Free PMC article.
Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations.
Fomin A, Gärtner A, Cyganek L, Tiburcy M, Tuleta I, Wellers L, Folsche L, Hobbach AJ, von Frieling-Salewsky M, Unger A, Hucke A, Koser F, Kassner A, Sielemann K, Streckfuß-Bömeke K, Hasenfuss G, Goedel A, Laugwitz KL, Moretti A, Gummert JF, Dos Remedios CG, Reinecke H, Knöll R, van Heesch S, Hubner N, Zimmermann WH, Milting H, Linke WA. Fomin A, et al. Among authors: knoll r. Sci Transl Med. 2021 Nov 3;13(618):eabd3079. doi: 10.1126/scitranslmed.abd3079. Epub 2021 Nov 3. Sci Transl Med. 2021. PMID: 34731013
Myopalladin promotes muscle growth through modulation of the serum response factor pathway.
Filomena MC, Yamamoto DL, Caremani M, Kadarla VK, Mastrototaro G, Serio S, Vydyanath A, Mutarelli M, Garofalo A, Pertici I, Knöll R, Nigro V, Luther PK, Lieber RL, Beck MR, Linari M, Bang ML. Filomena MC, et al. Among authors: knoll r. J Cachexia Sarcopenia Muscle. 2020 Feb;11(1):169-194. doi: 10.1002/jcsm.12486. Epub 2019 Oct 24. J Cachexia Sarcopenia Muscle. 2020. PMID: 31647200 Free PMC article.
187 results