Laminopathies
- PMID: 30719953
- PMCID: PMC7000148
- DOI: 10.1080/19491034.2018.1515606
Laminopathies
Similar articles
-
Updated clinical overview on cardiac laminopathies: an electrical and mechanical disease.Nucleus. 2018;9(1):380-391. doi: 10.1080/19491034.2018.1489195. Nucleus. 2018. PMID: 29929425 Free PMC article. Review.
-
Laminopathy-causing lamin A mutations reconfigure lamina-associated domains and local spatial chromatin conformation.Nucleus. 2018 Jan 1;9(1):216-226. doi: 10.1080/19491034.2018.1449498. Nucleus. 2018. PMID: 29517398 Free PMC article. Review.
-
Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes.Nucleus. 2018;9(1):442-459. doi: 10.1080/19491034.2018.1506680. Nucleus. 2018. PMID: 30130999 Free PMC article. Review.
-
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.Muscle Nerve. 2007 Dec;36(6):828-32. doi: 10.1002/mus.20879. Muscle Nerve. 2007. PMID: 17701980
-
Invertebrate models of lamin diseases.Nucleus. 2018 Jan 1;9(1):227-234. doi: 10.1080/19491034.2018.1454166. Nucleus. 2018. PMID: 29557730 Free PMC article. Review.
Cited by
-
Cardiac phenotype in familial partial lipodystrophy.Clin Endocrinol (Oxf). 2021 Jun;94(6):1043-1053. doi: 10.1111/cen.14426. Epub 2021 Feb 22. Clin Endocrinol (Oxf). 2021. PMID: 33502018 Free PMC article.
-
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.J Neuromuscul Dis. 2021;8(3):419-439. doi: 10.3233/JND-200596. J Neuromuscul Dis. 2021. PMID: 33682723 Free PMC article.
-
Role of Lamin A/C as Candidate Biomarker of Aggressiveness and Tumorigenicity in Glioblastoma Multiforme.Biomedicines. 2021 Sep 28;9(10):1343. doi: 10.3390/biomedicines9101343. Biomedicines. 2021. PMID: 34680461 Free PMC article.
-
Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.J Clin Med. 2021 Apr 1;10(7):1435. doi: 10.3390/jcm10071435. J Clin Med. 2021. PMID: 33916074 Free PMC article. Review.
-
The Cutting Edge: The Role of mTOR Signaling in Laminopathies.Int J Mol Sci. 2019 Feb 15;20(4):847. doi: 10.3390/ijms20040847. Int J Mol Sci. 2019. PMID: 30781376 Free PMC article. Review.
References
-
- Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994;8:323–327. - PubMed
-
- Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999;21:285–288. - PubMed
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Miscellaneous