Results 11 to 20 of about 18,190 (215)
Epigenetics in LMNA-Related Cardiomyopathy
Cells, 2023 Mutations in the gene for lamin A/C (LMNA) cause a diverse range of diseases known as laminopathies. LMNA-related cardiomyopathy is a common inherited heart disease and is highly penetrant with a poor prognosis. In the past years, numerous investigations
Yinuo Wang, Gergana Dobreva
doaj +4 more sources
Creatine and l-Carnitine Attenuate Muscular Laminopathy in the LMNA Mutation Transgenic Zebrafish
Scientific ReportsLamin A/C gene (LMNA) mutations contribute to severe striated muscle laminopathies, affecting cardiac and skeletal muscles, with limited treatment options.
Horng-Dar Wang +2 more
exaly +3 more sources
Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy
Molecular Therapy - Nucleic Acids, 2018 We assessed the potential of Lmna-mRNA repair by spliceosome-mediated RNA trans-splicing as a therapeutic approach for LMNA-related congenital muscular dystrophy.
Isabelle Nelson +2 more
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Revisiting the Truncated Lamin A Produced by a Commonly Used Strain of Lmna Knockout Mice
Nucleus, 2023 The Lmna knockout mouse (Lmna–/–) created by Sullivan and coworkers in 1999 has been widely used to examine lamin A/C function. The knockout allele contains a deletion of Lmna intron 7–exon 11 sequences and was reported to be a null allele.
Stephen G. Young, Paul Kim, Yiping Tu
exaly +3 more sources
Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/- mice. [PDF]
PLoS ONE, 2012 Lmna(-/-) mice display multiple tissue defects and die by 6-8 weeks of age reportedly from dilated cardiomyopathy with associated conduction defects. We sought to determine whether restoration of lamin A in cardiomyocytes improves cardiac function and ...
Richard L Frock +13 more
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Genetic Dilated Cardiomyopathy: A Review [PDF]
Methodist DeBakey Cardiovascular JournalDilated cardiomyopathy (DCM) is a leading cause of nonischemic heart failure. Genetic causes are identifiable in 25% to 30% of patients. This review describes the pathophysiology underlying genetic DCM, the genes most strongly associated with DCM, and ...
Madelyn Boslough +3 more
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Construction of HEK293 and C2C12 cell models transfected by LMNA mutant and related intracellular sublocalization of lamin A/C [PDF]
Jichu yixue yu linchuang, 2020 Objective To construct an expression vector of fusion protein from wild type LMNA and mutant and the lentivirus vector of LMNA mutant, to study the expression and sublocalization of lamin A/C and the change of nucleus in HEK293 and C2C12 cells.
TAN Dan-dan, CHAI Jing-yan, LIU Jian-yun, NIE Hong-bing, XIONG Hui, WU Xiang-bin
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Frontiers in Genetics, 2023 Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes
Sergi Cesar +68 more
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Cell-extrinsic defective lymphocyte development in Lmna(-/-) mice. [PDF]
PLoS ONE, 2010 Mutations in the LMNA gene, which encodes all A-type lamins, result in a variety of human diseases termed laminopathies. Lmna(-/-) mice appear normal at birth but become runted as early as 2 weeks of age and develop multiple tissue defects that mimic ...
J Scott Hale +4 more
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Partial Lipodystrophy and LMNA p.R545H Variant [PDF]
Journal of Clinical Medicine, 2021 Laminopathies are disorders caused by LMNA gene mutations, which selectively affect different tissues and organ systems, and present with heterogeneous clinical and pathological traits. The molecular mechanisms behind these clinical differences and tissue specificity have not been fully clarified.
Silvia Magno +12 more
openaire +3 more sources