Zobrazeno 1 - 10
of 35
pro vyhledávání: '"L-CMD"'
Akademický článek
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Autor:
Hannah A. Nicolas, Anne T. Bertrand, Sarah Labib, Musfira Mohamed-Uvaize, Pierrette M. Bolongo, Wen Yu Wu, Zofia T. Bilińska, Gisèle Bonne, Marie-Andrée Akimenko, Frédérique Tesson
Publikováno v:
Cells, Vol 9, Iss 11, p 2388 (2020)
Striated muscle laminopathies are cardiac and skeletal muscle conditions caused by mutations in the lamin A/C gene (LMNA). LMNA codes for the A-type lamins, which are nuclear intermediate filaments that maintain the nuclear structure and nuclear proc
Externí odkaz:
https://doaj.org/article/b8fa30460ceb45f7a5fb18c8ea577945
Publikováno v:
Cells, Vol 8, Iss 4, p 291 (2019)
The lamin A/C (LMNA) gene codes for nuclear intermediate filaments constitutive of the nuclear lamina. LMNA has 12 exons and alternative splicing of exon 10 results in two major isoforms—lamins A and C. Mutations found throughout the LMNA gene caus
Externí odkaz:
https://doaj.org/article/de6173f5e21d4607a53189db09001c64
Autor:
Chiara Gargiuli, Maria Rosaria D'Apice, Marta Columbaro, Tiziana Greggi, Giuseppe Novelli, Elisa Schena, Elisabetta Mattioli, Giovanna Lattanzi
Publikováno v:
Oncotarget
Lamin A/C is a major constituent of the nuclear lamina implicated in a number of genetic diseases, collectively known as laminopathies. The most severe forms of laminopathies feature, among other symptoms, congenital scoliosis, osteoporosis, osteolys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67318ded4a54400590478479ff953faa
http://europepmc.org/articles/PMC5978267
http://europepmc.org/articles/PMC5978267
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Alban Vignaud, Karim Wahbi, Adeline Jacquet, Nathalie Mougenot, Arnaud Ferry, Gisèle Bonne, Anne Bertrand, Marie-Elodie Cattin
Publikováno v:
Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2016, ⟨10.1016/j.nmd.2016.05.010⟩
Neuromuscular Disorders, 2016, ⟨10.1016/j.nmd.2016.05.010⟩
Neuromuscular Disorders, Elsevier, 2016, 〈10.1016/j.nmd.2016.05.010〉
Neuromuscular Disorders, Elsevier, 2016, ⟨10.1016/j.nmd.2016.05.010⟩
Neuromuscular Disorders, 2016, ⟨10.1016/j.nmd.2016.05.010⟩
Neuromuscular Disorders, Elsevier, 2016, 〈10.1016/j.nmd.2016.05.010〉
International audience; LMNA gene encodes lamin A/C, ubiquitous proteins of the nuclear envelope. They play crucial role in maintaining nuclear shape and stiffness. When mutated, they essentially lead to dilated cardiomyopathy with conduction defects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b869475d574263dd0bd3396ce82e5c
https://doi.org/10.1016/j.nmd.2016.05.010
https://doi.org/10.1016/j.nmd.2016.05.010
Autor:
Sarah Labib, Wen Yu Wu, Zofia T. Bilińska, Musfira Mohamed-Uvaize, Pierrette M. Bolongo, Frédérique Tesson, Hannah A. Nicolas, Anne Bertrand, Marie-Andrée Akimenko, Gisèle Bonne
Publikováno v:
Cells
Cells, MDPI, 2020, 9 (11), pp.2388. ⟨10.3390/cells9112388⟩
Volume 9
Issue 11
Cells, Vol 9, Iss 2388, p 2388 (2020)
Cells, MDPI, 2020, 9 (11), pp.2388. ⟨10.3390/cells9112388⟩
Volume 9
Issue 11
Cells, Vol 9, Iss 2388, p 2388 (2020)
Striated muscle laminopathies are cardiac and skeletal muscle conditions caused by mutations in the lamin A/C gene (LMNA). LMNA codes for the A-type lamins, which are nuclear intermediate filaments that maintain the nuclear structure and nuclear proc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d7263fd0d6ee5f87f6e1e6bf9f31d05
https://doi.org/10.3390/cells9112388
https://doi.org/10.3390/cells9112388
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Cells, Vol 8, Iss 4, p 291 (2019)
Cells
Cells
The lamin A/C (LMNA) gene codes for nuclear intermediate filaments constitutive of the nuclear lamina. LMNA has 12 exons and alternative splicing of exon 10 results in two major isoforms—lamins A and C. Mutations found throughout the LMNA gene caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc048c7f58bb447bc113377244fc6a88
https://doi.org/10.3390/cells8040291
https://doi.org/10.3390/cells8040291