Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

Autor: A. Madelaine, Julie Brocard, Mireille Cossée, Isabelle Marty, Anne-Cécile Coville, Michel Koenig, Christine Ioos, C. Thèze, John Rendu, Klaus Dieterich, Aurore Siegfried, Julien Fauré, Claude Cances, Henri Pegeot, Eloïse Baudou, Pascale Marcorelle, Norma B. Romero, Emmanuelle Lacène, Emmanuelle Uro Coste, Murielle Dobrzynski, Raul Juntas Morales, Justine Géraud

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, ⟨10.1136/jmedgenet-2019-106714⟩
Journal of Medical Genetics, 2020, ⟨10.1136/jmedgenet-2019-106714⟩

BackgroundCongenital nemaline myopathies are rare pathologies characterised by muscle weakness and rod-shaped inclusions in the muscle fibres.MethodsUsing next-generation sequencing, we identified three patients with pathogenic variants in the Tropon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4374d64ec4a62a54890fe63e5a88f396
http://europepmc.org/articles/PMC8394741

Sixty days of head-down tilt bed rest with or without artificial gravity do not affect the neuromuscular secretome

Autor: Hans Degens, Michael Drey, Alessandra Bosutti, Bergita Ganse

Publikováno v: Experimental cell research. 399(2)

Artificial gravity is a potential countermeasure to attenuate effects of weightlessness during long-term spaceflight, including losses of muscle mass and function, possibly to some extent attributable to disturbed neuromuscular interaction. The 60-da

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f37df6cad9b722c5b04e41efb0658e06
https://pubmed.ncbi.nlm.nih.gov/33385417

Identification of a Gene Encoding Slow Skeletal Muscle Troponin T as a Novel Marker for Immortalization of Retinal Pigment Epithelial Cells

Autor: Akihiro Umezawa, Yoji Sato, Takuya Kuroda, Hiroyuki Nakashima, Satoshi Yasuda, Nozomi Takada, Shinji Kusakawa, Shin Kawamata, Satoko Matsuyama, Akifumi Matsuyama

Publikováno v: Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)

Human pluripotent stem cells (hPSCs) are leading candidate raw materials for cell-based therapeutic products (CTPs). In the development of hPSC-derived CTPs, it is imperative to ensure that they do not form tumors after transplantation for safety rea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852c5a520c317bc3b5cdb8b788efcf8f
https://pubmed.ncbi.nlm.nih.gov/28811571

Effect of a Unique Polymophism in Tropomyosin-Binding Site 1 of Toad Slow Skeletal Muscle Troponin T on Cardiac Function

Autor: Jian Ping Jin, Shirin Akhter, Han-Zhong Feng, Hui Wang

Publikováno v: Biophysical Journal. 114:138a-139a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::05ddc50f9f8da1a3f46d12607df4b586
https://doi.org/10.1016/j.bpj.2017.11.782

Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies

Autor: Chinthaka Amarasinghe, Jian Ping Jin, M. Moazzem Hossain

Publikováno v: Biochemistry. 55(32)

Troponin T (TnT) is the tropomyosin (Tm)-binding and thin filament-anchoring subunit of troponin and plays a central role in striated muscle contraction. A nonsense mutation in exon 11 of the TNNT1 gene encoding slow skeletal muscle troponin T (ssTnT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d3f3f934c262518a8c10b0d1d14ed0d
https://pubmed.ncbi.nlm.nih.gov/27429059