Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-022-01795-6
Abstract: SARS-CoV-2 infection may cause varying degrees of cardiac injury and the presence of underlying cardiovascular morbidities contributes to the frequency and severity of occurrence of this complication. Lipodystrophy syndromes are frequently characterized by severe metabolic… read more here.
Keywords: lipodystrophy; lmna gene; cov infection; sars cov ... See more keywords
Generation of an integration-free induced pluripotent stem cell line (PUMCHi001-A) from a patient with familial partial lipodystrophy type 2 (FPLD2) carrying a heterozygous p.R349W (c.1045C > T) mutation in the LMNA gene.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101651
Abstract: Familial partial lipodystrophy type 2 (FPLD2) is a rare autosomal dominant metabolic disorder caused by heterozygous mutations in the LMNA gene, which encodes for the lamin A/C. A human induced pluripotent stem cell (iPSC) line… read more here.
Keywords: stem cell; cell; lmna gene; line ... See more keywords
Generation of a laminopathies-specific iPSC line EHTJUi005-A-3 with homozygous knockout of the LMNA gene by CRISPR/Cas9 technology.
Sign Up to like & getrecommendations! Published in 2021 at "Stem cell research"
DOI: 10.1016/j.scr.2021.102530
Abstract: LAMIN A/C, encoded by the LMNA gene, supports the normal structure of the cell nucleus and regulates the connection between the nucleus and the cytoskeleton as a component of the nucleus envelope. The loss of… read more here.
Keywords: line ehtjui005; ehtjui005 homozygous; lmna gene; gene ... See more keywords
Familial cardiolaminopathy due to a previously undescribed LMNA gene mutation
Sign Up to like & getrecommendations! Published in 2023 at "Europace"
DOI: 10.1093/europace/euad122.605
Abstract: Abstract Funding Acknowledgements Type of funding sources: None. Introduction Cardiolaminopathies are rare genetic alterations, which present diverse mechanical and electrical alterations. OBJECTIVE To present a family carrying an LMNA gene mutation that although not described… read more here.
Keywords: family; gene mutation; lmna gene; block ... See more keywords
Plain Language Summary of Publication of the safety and efficacy of ARRY-371797 in people with dilated cardiomyopathy and a faulty LMNA gene.
Sign Up to like & getrecommendations! Published in 2023 at "Future cardiology"
DOI: 10.2217/fca-2022-0099
Abstract: WHAT IS THIS PLAIN LANGUAGE SUMMARY ABOUT? This plain language summary describes the results of a study looking at the effects of a medicine called ARRY-371797 (also known as PF-07265803) in people with dilated cardiomyopathy… read more here.
Keywords: arry 371797; lmna gene; faulty lmna; heart ... See more keywords
Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent “Lone AF” Patients: Results and Insights
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2022.823717
Abstract: Objective Mutations in the Lamin A/C (LMNA) gene are commonly associated with cardiac manifestations, such as dilated cardiomyopathy (DCM) and conduction system disease. However, the overall spectrum and penetrance of rare LMNA variants are unknown.… read more here.
Keywords: rare lmna; genetic variants; lamin lmna; lmna gene ... See more keywords