Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report [PDF]
Frontiers in Cardiovascular Medicine, 2023 IntroductionCardiac laminopathies are caused by mutations in the LMNA gene and include a wide range of clinical manifestations involving electrical and mechanical changes in cardiomyocytes.
Patricia Guevara-Ramírez +9 more
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Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features [PDF]
Cells, 2016 LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing.
Lorenzo Maggi +2 more
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From loss to gain: role for SUN1 in laminopathies [PDF]
Cell & Bioscience, 2012 Mutations in LMNA encoding lamins A and C are associated with at least 10 different degenerative disorders affecting diverse tissues, collectively called laminopathies.
Liu Baohua, Jin Dong-Yan, Zhou Zhongjun
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The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence [PDF]
Open Biology, 2016 AKTIP is a shelterin-interacting protein required for replication of telomeric DNA. Here, we show that AKTIP biochemically interacts with A- and B-type lamins and affects lamin A, but not lamin C or B, expression.
Romina Burla +14 more
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Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction [PDF]
Cells, 2020 Laminopathies are a wide and heterogeneous group of rare human diseases caused by mutations of the LMNA gene or related nuclear envelope genes. The variety of clinical phenotypes and the wide spectrum of histopathological changes among patients carrying ...
Cristina Cappelletti +20 more
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Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies [PDF]
CellsNuclear processes are fundamental to the regulation of cellular, tissue, and organismal function, especially in complex multicellular systems. Central to these processes are lamins and lamin-associated proteins, which contribute to nuclear structure ...
Aleksandra Zielińska +3 more
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Severe cardiac valvular calcification in two Chinese brothers with mandibuloacral dysplasia type A: a case report [PDF]
Frontiers in Cardiovascular MedicineMandibuloacral dysplasia type A (MADA) is a rare progeroid syndrome associated with mutations in the Lamin A/C (LMNA) gene, primarily affecting skeletal, cutaneous, and adipose tissues.
Yi Guo +4 more
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Recent Advances in Animal and Human Pluripotent Stem Cell Modeling of Cardiac Laminopathy [PDF]
, 2016 published_or_final_versio
Jiang, Y +7 more
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Frontiers in Physiology, 2018 Laminopathies are a clinically heterogeneous group of disorders caused by mutations in LMNA. The main proteins encoded by LMNA are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the ...
Heather B. Steele-Stallard +10 more
doaj +2 more sources
Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants [PDF]
Journal of Cardiovascular Development and DiseaseMutations in the LMNA-gene can cause a variety of ‘laminopathies’. These laminopathies are associated with a range of phenotypes, including disorders affecting the adipose tissue, peripheral nerves, the heart, such as dilated cardiomyopathy and ...
Hoi W. Wu +8 more
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