Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium-Reference-Cited by-同舟云学术

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Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium

Published:2021-05-03 Issue:9 Volume:131 Page:
ISSN:1558-8238
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

van de Locht Martijn^ORCID,Donkervoort Sandra,de Winter Josine M.,Conijn Stefan,Begthel Leon,Kusters Benno,Mohassel Payam^ORCID,Hu Ying^ORCID,Medne Livija,Quinn Colin,Moore Steven A.^ORCID,Foley A. Reghan^ORCID,Seo Gwimoon^ORCID,Hwee Darren T.^ORCID,Malik Fady I.^ORCID,Irving Thomas^ORCID,Ma Weikang^ORCID,Granzier Henk L.,Kamsteeg Erik-Jan,Immadisetty Kalyan^ORCID,Kekenes-Huskey Peter,Pinto José R.,Voermans Nicol,Bönnemann Carsten G.^ORCID,Ottenheijm Coen A.C.

Funder

ZonMw

European Union’s Horizon 2020 research and innovation programme

National Heart, Lung, and Blood Institute

National Institute of Neurological Disorders and Stroke

National Human Genome Research Institute

National Institute of General Medical Sciences

Muscle Dystrophy UK

National Institute of Health

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://www.jci.org/articles/view/145700/files/pdf

Reference59 articles.

1. Regulation of Contraction in Striated Muscle

2. Skeletal MyBP-C isoforms tune the molecular contractility of divergent skeletal muscle systems

3. Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

4. KBTBD13 is an actin-binding protein that modulates muscle kinetics

5. Troponin C — Troponin I Interactions and Molecular Signalling in Cardiac Myofilaments

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1. Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease;Science Translational Medicine;2024-04-03

2. TNNC2 is a Microsatellite Instability-Related Gene for Response to Immune Checkpoint Blocking Therapy in Colorectal Cancer and Contributes to Tumor Progression;J BIOL REG HOMEOS AG;2024

3. Ryanodine receptor‐associated myopathies: What's myosin got to do with it?;Acta Physiologica;2023-10-30

4. Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2;International Journal of Molecular Sciences;2023-09-26

5. RNA-Seq Reveals Sex Differences in Gene Expression during Peripheral Neuropathic Inflammation and in Pain Relief from a COX-2 Inhibiting Theranostic Nanoemulsion;International Journal of Molecular Sciences;2023-05-23

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