Results 1 to 10 of about 22,553 (288)
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
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Cardiomyocyte Proliferative Capacity Is Restricted in Mice With Lmna Mutation [PDF]
Frontiers in Cardiovascular Medicine, 2021 LMNA is one of the leading causative genes of genetically inherited dilated cardiomyopathy (DCM). Unlike most DCM-causative genes, which encode sarcomeric or sarcomere-related proteins, LMNA encodes nuclear envelope proteins, lamin A and C, and does not ...
Kenji Onoue +12 more
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Frontiers in Cardiovascular Medicine, 2022 ObjectiveMutations 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.
Gabrielle D'Arezzo Pessente +13 more
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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.
Shao-Wei Pan +7 more
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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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Frontiers in Cardiovascular Medicine, 2022 Pathogenic variants in the LMNA gene are known to cause laminopathies, a broad range of disorders with different clinical phenotypes. LMNA genetic variants lead to tissue-specific pathologies affecting various tissues and organs. Common manifestations of
Kseniya Perepelina +10 more
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Dupuytren’s and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene [PDF]
Cells, 2017 Dupuytren’s disease (palmar fibromatosis) involves nodules in fascia of the hand that leads to flexion contractures. Ledderhose disease (plantar fibromatosis) is similar with nodules of the foot.
Michael V. Zaragoza +4 more
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Perinuclear organelle trauma at the nexus of cardiomyopathy pathogenesis arising from loss of function LMNA mutation [PDF]
NucleusOver the past 25 years, nuclear envelope (NE) perturbations have been reported in various experimental models with mutations in the LMNA gene. Although the hypothesis that NE perturbations from LMNA mutations are a fundamental feature of striated muscle ...
Jason C. Choi
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International Journal of Cardiology: Heart & Vasculature, 2015 Background: Dilated Cardiomyopathy (DCM) is one of the most commonly encountered heart diseases reported globally. It is characterized by enlarged ventricles with impaired systolic and diastolic functions.
Avinanda Banerjee +2 more
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Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review
Cells, 2023 Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known.
A. Fernández-Pombo +6 more
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