Results 231 to 240 of about 62,626 (262)

Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients harbouring TTN mutations. [PDF]

Stem Cell Res
Tan R, Chen YI, Zha Y, Herron T, Haddad F, Sallam K, Wu JC.   +6 more
europepmc   +1 more source

Circulatory titin and miR-451a are possible sarcopenia biomarkers in elderly people. [PDF]

Front Aging
Mancuso R, Citterio LA, Agostini S, Miglioli R, Nuzzi R, Antolini L, Trecate F, Clerici M.   +7 more
europepmc   +1 more source

How does the expression of the titin protein affect muscle function in pediatric patients with muscular dystrophies?

Tripdatabase
openalex   +1 more source

Sub-sarcomeric regulation of thin and thick filaments in skeletal muscle myofibrils

Sliogeryte K, Fusi L.
europepmc   +1 more source

A comprehensive framework for the interpretation of TTN missense variants

Feo MFD, Rees M, Lillback V, Kho AL, Meybatova A, Holt M, Jungbluth H, Muntoni F, Baranello G, Sarkozy A, Fiorillo C, Baratto S, Bruno C, Traverso M, Iacomino M, Pedemonte M, Brolatti N, Faravelli F, Zara F, Mandarà GL, Beggs AH, Genetti CA, Barraza-Flores P, Rodolico C, Messina S, Schnabel F, Balogh I, Szakszon K, Sarv S, Õunap K, Ricci FS, Mussa A, Malfatti E, Bertini ES, D’Amico A, Diodato D, Catteruccia M, Ravenscroft G, Johari M, Kurbatov SA, Chausova P, Murtazina A, Kuchina A, Shchagina O, Drakos M, Spilioti M, Evangeliou AE, Zaganas I, Zhong H, Luo S, Merlini L, Nguyen C, Tasca G, Reeves T, Mörner S, Danielsson O, Udd B, Gautel M, Savarese M.   +58 more
europepmc   +1 more source

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Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations

Science Translational Medicine, 2021
Description Stable expression of truncated titin proteins and titin haploinsufficiency characterize TTN cardiomyopathy and represent targets for therapy.
A. Fomin, Anna Gärtner, Lukas Cyganek, M. Tiburcy, I. Tuleta, Luisa Wellers, Lina Folsche, A. J. Hobbach, Marion von Frieling-Salewsky, A. Unger, A. Hucke, Franziska Koser, A. Kassner, K. Sielemann, K. Streckfuss-Bömeke, G. Hasenfuss, A. Goedel, K. Laugwitz, A. Moretti, J. Gummert, C. D. dos Remedios, H. Reinecke, R. Knöll, Sebastiaan van Heesch, N. Hubner, W. Zimmermann, H. Milting, W. Linke   +27 more
semanticscholar   +1 more source

Ratio of urinary N-terminal titin fragment to urinary creatinine is a novel biomarker for amyotrophic lateral sclerosis

Journal of Neurology Neurosurgery & Psychiatry, 2021
Objective We aimed to investigate the validity of urinary N-terminal titin fragment as a biomarker for amyotrophic lateral sclerosis (ALS). Methods We consecutively enrolled patients with ALS (n=70) and healthy controls (HC) (n=43).
S. Yamada, A. Hashizume, Y. Hijikata, D. Ito, Yoshiyuki Kishimoto, M. Iida, H. Koike, A. Hirakawa, M. Katsuno   +8 more
semanticscholar   +1 more source