Results 181 to 190 of about 23,382 (212)

Lamin A/C protects chromatin accessibility during mechanical loading in human skeletal muscle. [PDF]

Cell Commun Signal
Jabre S, Cherchame E, Pinzón N, Lemerle E, Bitoun M, Coirault C.   +5 more
europepmc   +1 more source

Pathogenesis of LMNA-related dilated cardiomyopathy

, 2022
openaire   +2 more sources

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LMNA mutations in atypical Werner's syndrome

Lancet, The, 2003
Werner's syndrome is a progeroid syndrome caused by mutations at the WRN helicase locus. Some features of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lamin A/C. Because of this similarity, we sequenced LMNA in individuals with atypical Werner's syndrome (wild-type WRN).Of 129 index patients referred to our ...
Brian Keith Kennedy, Abhimanyu Garg, George M Martin   +2 more
exaly   +12 more sources

Contemporary Insights into LMNA Cardiomyopathy

Current Cardiology Reports
This review aims to explore how a diagnosis of LMNA-related cardiomyopathy (LMNA-CM) informs clinical management, focusing on the prevention and management of its complications, through practical clinical strategies.Longitudinal studies have enhanced our understanding of the natural history of LMNA-CM including its arrhythmic and non-arrhythmic ...
Iswaree D, Balakrishnan, Neal K, Lakdawala   +1 more
openaire   +2 more sources

Normal and aberrant splicing of LMNA

Journal of Medical Genetics, 2014
The LMNA gene gives rise to at least three isoforms (lamin A, C, lamin AΔ10) as a result of normal alternative splicing, regulated by cis- and trans-acting regulatory factors, as well as the 5′ and 3′ untranslated regions of the gene. The two main isoforms, lamin A and C, are constitutive components of the fibrous nuclear lamina and have diverse ...
Luo, Y-B, Mastaglia, F.L., Wilton, S.D.
openaire   +2 more sources

Cardiac phenotypes in LMNA mutations

Current Opinion in Cardiology
Purpose of review This review highlights the diverse cardiac manifestations of LMNA mutations, focusing on their underlying molecular mechanisms and clinical implications. As LMNA mutations are implicated in cardiomyopathies, such as dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ARVC), and conduction system ...
openaire   +2 more sources

LMNA mutations in progeroid syndromes.

Novartis Foundation symposium, 2005
Segmental progeroid syndromes are disorders in which affected individuals. present various features that suggest accelerated ageing. The two best-known examples are Hutchinson-Gilford progeria syndrome (HGPS, 'Progeria of childhood') and Werner syndrome (WS, 'Progeria of the adult'). A novel, recurrent de novo mutation in the LMNA gene, responsible for
Shurong, Huang, Brian K, Kennedy, Junko, Oshima   +2 more
openaire   +1 more source

Inflammatory changes in infantile-onset LMNA-associated myopathy

Neuromuscular Disorders, 2011
Mutations in LMNA cause wide variety of disorders including Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, and congenital muscular dystrophy. We recently found a LMNA mutation in a patient who was previously diagnosed as infantile onset inflammatory myopathy.
Hirofumi, Komaki, Yukiko K, Hayashi, Rie, Tsuburaya, Kazuma, Sugie, Mitsuhiro, Kato, Toshiro, Nagai, George, Imataka, Shuhei, Suzuki, Shinji, Saitoh, Naoko, Asahina, Kazuya, Honke, Yoshihisa, Higuchi, Hiroshi, Sakuma, Yoshiaki, Saito, Eiji, Nakagawa, Kenji, Sugai, Masayuki, Sasaki, Ikuya, Nonaka, Ichizo, Nishino   +18 more
openaire   +2 more sources