Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Safaa Saker"'
Autor:
Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland, Jean-François Deleuze, Valérie Biancalana, Johann Böhm, Jocelyn Laporte
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-15 (2024)
Abstract Background Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and appropriate clinical m
Externí odkaz:
https://doaj.org/article/2ecd19f0cda141cfa0923df68ca7b619
Autor:
Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Publikováno v:
Stem Cell Research, Vol 80, Iss , Pp 103491- (2024)
Variants in MYH7 cause cardiomyopathies as well as myosin storage myopathy and Laing early-onset distal myopathy (MPD1). MPD1 is characterized by muscle weakness and atrophy usually beginning in the lower legs. Here, we generated iPSC lines from lymp
Externí odkaz:
https://doaj.org/article/3d5d74df28c54775a784033792ebea4b
Autor:
Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103411- (2024)
RYR1 variants are a common cause of congenital myopathies, including multi-minicore disease (MmD) and central core disease (CCD). Here, we generated iPSC lines from two CCD patients with dominant RYR1 missense variants that affect the transmembrane (
Externí odkaz:
https://doaj.org/article/a2f31142d3c04bd2b691d66e91321b37
Autor:
Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103410- (2024)
RYR1 variants are the most common genetic cause of congenital myopathies, and typically cause central core disease (CCD) and/or malignant hyperthermia (MH). Here, we generated iPSC lines from two patients with CCD and MH caused by dominant RYR1 varia
Externí odkaz:
https://doaj.org/article/83937e9ad64641f5b8a74afaa10b22c6
Autor:
Karrison Driver, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor, Joshua S. Clayton
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103258- (2023)
Central core disease (CCD) is a congenital disorder that results in hypotonia, delayed motor development, and areas of reduced oxidative activity in the muscle fibre. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblasto
Externí odkaz:
https://doaj.org/article/b7c641e3388f4b1b896aa00fec23de72
Autor:
Joshua S. Clayton, Isabella Suleski, Christina Vo, Robert Smith, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Publikováno v:
Stem Cell Research, Vol 63, Iss , Pp 102829- (2022)
Variants in the ACTA1 gene are a common cause of nemaline myopathy (NM); a muscle disease that typically presents at birth or early childhood with hypotonia and muscle weakness. Here, we generated an induced pluripotent stem cell line (iPSC) from lym
Externí odkaz:
https://doaj.org/article/29fa7d240b274f9c9f95ed0974db0291
Autor:
Isabella S. Suleski, Robert Smith, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Nigel G. Laing, Rhonda L. Taylor, Joshua S. Clayton
Publikováno v:
Stem Cell Research, Vol 63, Iss , Pp 102830- (2022)
Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres. Two induced pluripotent stem cel
Externí odkaz:
https://doaj.org/article/84bf78f45a364a2e8ac239d059749486
Autor:
Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Publikováno v:
Stem Cell Research, Vol 55, Iss , Pp 102482- (2021)
Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of nemaline bodies in myofibres. Approximately 25% of NM cases are caused by variants in ACTA1. We generated two induced pluripotent
Externí odkaz:
https://doaj.org/article/4bf571ccffe14d47a17356df49786875
Autor:
Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102273- (2021)
Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of abnormal thread- or rod-like structures (nemaline bodies) in myofibres. Pathogenic variants in the skeletal muscle alpha actin gen
Externí odkaz:
https://doaj.org/article/2d95cc939a714514b1764430c062301c
Autor:
Elisa Teyssou, Laura Chartier, Delphine Roussel, Nirma D. Perera, Ivan Nemazanyy, Dominique Langui, Mélanie Albert, Thierry Larmonier, Safaa Saker, François Salachas, Pierre-François Pradat, Vincent Meininger, Philippe Ravassard, Francine Côté, Christian S. Lobsiger, Séverine Boillée, Bradley J. Turner, Danielle Seilhean, Stéphanie Millecamps
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 10; Pages: 5694
International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2022, 23 (10), pp.5694. ⟨10.3390/ijms23105694⟩
International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2022, 23 (10), pp.5694. ⟨10.3390/ijms23105694⟩
International audience; Mutations in profilin 1 (PFN1) have been identified in rare familial cases of Amyotrophic Lateral Sclerosis (ALS). PFN1 is involved in multiple pathways that could intervene in ALS pathology. However, the specific pathogenic r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcaf345a08f6a94458df416b56509634