TTN c.43629_43630insTA ;(p.M14544*)

Variant ID: 2-179496991-T-TTA

NM_001267550.1(TTN):c.43629_43630insTA;(p.M14544*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.

Embo Molecular Medicine
Gramlich, Michael M; Pane, Luna Simona LS; Zhou, Qifeng Q; Chen, Zhifen Z; Murgia, Marta M; Schötterl, Sonja S; Goedel, Alexander A; Metzger, Katja K; Brade, Thomas T; Parrotta, Elvira E; Schaller, Martin M; Gerull, Brenda B; Thierfelder, Ludwig L; Aartsma-Rus, Annemieke A; Labeit, Siegfried S; Atherton, John J JJ; McGaughran, Julie J; Harvey, Richard P RP; Sinnecker, Daniel D; Mann, Matthias M; Laugwitz, Karl-Ludwig KL; Gawaz, Meinrad Paul MP; Moretti, Alessandra A
Publication Date: 2015-05

Variant appearance in text: TTN: 43628insAT
PubMed Link: 25759365
Variant Present in the following documents:
  • Main text
  • emmm0007-0562.pdf
  • emmm0007-0562-sd1.pdf
View BVdb publication page



Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy.

Frontiers In Physiology
Messer, Andrew E AE; Marston, Steven B SB
Publication Date: 2014

Variant appearance in text: TTN: 43628insAT
PubMed Link: 25202278
Variant Present in the following documents:
  • Main text
  • fphys-05-00315.pdf
View BVdb publication page



Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).

Molecular Medicine Reports
Mahmood, Omar A OA; Jiang, Xin Mei XM
Publication Date: 2014-05

Variant appearance in text: TTN: 43628insAT
PubMed Link: 24626787
Variant Present in the following documents:
  • Main text
  • mmr-09-05-1515.pdf
View BVdb publication page



Pluripotent and somatic stem cells: from basic science to utilization in disease modeling and therapeutic application. Meeting report on the 7th International Meeting of the Stem Cell Network North Rhine Westphalia.

Cellular Reprogramming
Radtke, Stefan S; Horn, Peter A PA
Publication Date: 2013-10

Variant appearance in text: TTN: 43628insAT
PubMed Link: 24020695
Variant Present in the following documents:
  • Main text
View BVdb publication page



Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.

Journal Of Molecular And Cellular Cardiology
Gramlich, Michael M; Michely, Beate B; Krohne, Christian C; Heuser, Arnd A; Erdmann, Bettina B; Klaassen, Sabine S; Hudson, Bryan B; Magarin, Manuela M; Kirchner, Florian F; Todiras, Mihail M; Granzier, Henk H; Labeit, Siegfried S; Thierfelder, Ludwig L; Gerull, Brenda B
Publication Date: 2009-09

Variant appearance in text: TTN: 43628insAT
PubMed Link: 19406126
Variant Present in the following documents:
  • Main text
View BVdb publication page