Results 91 to 100 of about 864,168 (128)

Genotype-phenotype insights of pediatric dilated cardiomyopathy. [PDF]

Front Pediatr
Dai Y, Wang Y, Fan Y, Han B.
europepmc   +1 more source

The Influence of a Genetic Variant in <i>CCDC78</i> on <i>LMNA</i>-Associated Skeletal Muscle Disease. [PDF]

Int J Mol Sci
Mohar NP, Cox EM, Adelizzi E, Moore SA, Mathews KD, Darbro BW, Wallrath LL.   +6 more
europepmc   +1 more source

Aligning with the 3Rs: alternative models for research into muscle development and inherited myopathies. [PDF]

BMC Vet Res
Mehmood H, Kasher PR, Barrett-Jolley R, Walmsley GL.   +3 more
europepmc   +1 more source

Microtubule forces drive nuclear damage in LMNA cardiomyopathy. [PDF]

Nat Cardiovasc Res
Amiad Pavlov D, Heffler J, Suay-Corredera C, Dehghany M, Shen KM, Zuela-Sopilniak N, Randell R, Uchida K, Jain R, Shenoy V, Lammerding J, Prosser B.   +11 more
europepmc   +1 more source

Mechanics and disease of heart cells/cardiomyocytes explored through atomic force microscopy: present and future. [PDF]

Biophys Rev
Villarreal L, Fontes-Silva M, Mendaro L, Romanelli G, Benech JC.   +4 more
europepmc   +1 more source

Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies. [PDF]

Human Molecular Genetics, 2005
Laminopathies are a group of disorders caused by mutations in the LMNA gene encoding A-type lamins, components of the nuclear lamina. Three of these disorders affect specifically the skeletal and/or cardiac muscles, and their pathogenic mechanisms are ...
Takuro ARIMURA, Gisèle Bonne, Anne HELBLING-LECLERC   +2 more
exaly   +5 more sources

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Striated muscle laminopathies

Seminars in Cell and Developmental Biology, 2014
Lamins A and C, encoded by LMNA, are constituent of the nuclear lamina, a meshwork of proteins underneath the nuclear envelope first described as scaffolding proteins of the nucleus. Since the discovery of LMNA mutations in highly heterogeneous human disorders (including cardiac and muscular dystrophies, lipodystrophies and progeria), the number of ...
Anne Bertrand, Gisèle Bonne, Antoine Muchir   +2 more
exaly   +3 more sources

253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24–26 June 2022, Hoofddorp, the Netherlands

Neuromuscular Disorders, 2023
Lorenzo Maggi, Gisèle Bonne, Carsten G Bönnemann   +2 more
exaly   +3 more sources

O03 In vivo gene therapy for striated muscle laminopathy

Neuromuscular Disorders, 2023
LMNA mutations induce a group of disorders called laminopathies, mainly affecting striated muscles. In the case of LMNA-related Congenital Muscular Dystrophy (L-CMD), it is the most severe form of striated muscle laminopathy with cardiomyopathy. We previously reported the phenotype of KI- LmnadelK32 mouse model mimicking a human LMNA mutation.
Okubo, M., Brull, A., Beuvin, M., Mougenot, N., Paradis, V., Bonne, Gisèle, Bertrand, A.   +6 more
openaire   +2 more sources

Clinical features and therapeutic strategies for managing the striated muscle laminopathies

Expert Opinion on Orphan Drugs, 2016
ABSTRACTIntroduction: Laminopathies are a diverse and complex group of rare genetic conditions due to mutations in A-type lamins gene (LMNA). Striated muscle laminopathies (SML) are the most frequent type of laminopathies that affect skeletal and/or cardiac muscle, with cardiac disease being the major cause of death of SML patients.
Karim Wahbi, Rabah Ben Yaou, Gisèle Bonne   +2 more
exaly   +2 more sources