Results 271 to 280 of about 22,553 (288)

Normal and aberrant splicing ofLMNA

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 ...
Frank L. Mastaglia, Frank L. Mastaglia, Steve D. Wilton, Steve D. Wilton, Yue-Bei Luo   +4 more
openaire   +3 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   +2 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

Multiple G-quadruplexes in the LMNA promoter regulate LMNA variant 6 transcription and promote colon cancer cell growth

Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 2021
Lamin A/C proteins, major components of the nuclear lamina, are encoded by the LMNA gene. These proteins have multiple cellular functions, including DNA transcription and replication, chromatin organization, regulation of the cell cycle, and apoptosis. Mutations in LMNA are associated with a variety of diseases called laminopathies.
Mayu Nakata, Kazuhito Rokutan, Yuki Kuwano, Kensei Nishida, Tatsuya Nishikawa   +4 more
openaire   +3 more sources

Nuclear damage in LMNA mutant iPSC-derived cardiomyocytes is associated with impaired lamin localization to the nuclear envelope

bioRxiv, 2021
The LMNA gene encodes the nuclear envelope proteins Lamins A and C, which comprise a major part of the nuclear lamina, provide mechanical support to the nucleus, and participate in diverse intracellular signaling. LMNA mutations give rise to a collection
Melanie Wallace, Hind C. Zahr, Shriya Perati, C. Morsink, Lindsey Johnson, Anthony M. Gacita, Shuping Lai, L. Wallrath, I. Benjamin, E. McNally, Tyler J. Kirby, J. Lammerding   +11 more
semanticscholar   +1 more source

Mutations in the LMNA gene encoding lamin A/C

Human Mutation, 2000
Very recently, mutations within the LMNA gene on chromosome 1q21.2 were shown to result in forms of muscular dystrophy, conduction-system disease, cardiomyopathy, and partial lipodystrophy. The LMNA gene encodes for the nucleophilic A-type lamins, lamin A and lamin C. These isoforms are generated by different splicing within exon 10 of LMNA. Thus lamin
Hartmut H.-J. Schmidt, Janine Genschel
openaire   +3 more sources

Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study.

Europace, 2020
AIMS We aimed at addressing the role of late gadolinium enhancement (LGE) in arrhythmic risk stratification of LMNA-associated cardiomyopathy (CMP). METHODS AND RESULTS We present data from a multicentre national cohort of patients with LMNA mutations.
G. Peretto, A. Barison, C. Forleo, C. Di Resta, A. Esposito, G. Aquaro, A. Scardapane, A. Palmisano, M. Emdin, N. Resta, Anna Santoni, A. Guaricci, V. Santobuono, M. Pepe, S. Favale, M. Ferrari, S. Benedetti, P. Della Bella, S. Sala   +18 more
semanticscholar   +1 more source

Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy

Annals of Internal Medicine, 2019
Mutations in the LMNA (lamin A/C) gene have been associated with neuromuscular and cardiac manifestations, but the clinical implications of these signs are not well understood.To learn more about the natural history of LMNA-related disease.Observational study.13 clinical centers in Italy from 2000 through 2018.164 carriers of an LMNA mutation.Detailed ...
Peretto, Giovanni, Di Resta, Chiara, Perversi, Jacopo, Forleo, Cinzia, Maggi, Lorenzo, Politano, Luisa, Barison, Andrea, Previtali, Stefano C, Carboni, Nicola, Brun, Francesca, Pegoraro, Elena, D'Amico, Adele, Rodolico, Carmelo, Magri, Francesca, Manzi, Rosa C, Palladino, Alberto, Isola, Franco, Gigli, Lorenzo, Mongini, Tiziana E, Semplicini, Claudio, Calore, Chiara, Ricci, Giulia, Comi, Giacomo P, Ruggiero, Lucia, Bertini, Enrico, Bonomo, Paolo, Nigro, Gerardo, Resta, Nicoletta, Emdin, Michele, Favale, Stefano, Siciliano, Gabriele, Santoro, Lucio, Sinagra, Gianfranco, Limongelli, Giuseppe, Ambrosi, Alessandro, Ferrari, Maurizio, Golzio, Pier G, Bella, Paolo Della, Benedetti, Sara, Sala, Simone   +39 more
openaire   +6 more sources

Characterization of Adiposity and Metabolism in Lmna-Deficient Mice

Biochemical and Biophysical Research Communications, 2002
Dunnigan's Familial Partial Lipodystrophy (FPLD) is an autosomal dominant disease characterized by regional fat loss and insulin resistance. FPLD is caused by mutations in the LMNA gene, which encodes intermediate filaments of the nuclear lamina. Different LMNA mutations cause Emery-Dreifuss muscular dystrophy and/or a dilated cardiomyopathy. It is not
Marc L. Reitman, Teresa Sullivan, Colin L. Stewart, Dedra A. Cutler, Bernice Marcus-Samuels   +4 more
openaire   +3 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