Results 11 to 20 of about 14,545 (178)
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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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
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Membranous glomerulonephritis with an LMNA mutation [PDF]
CEN Case Reports, 2018 We had encountered the case of membranous glomerulonephritis (MGN) with dilated cardiomyopathy due to LMNA gene mutation. LMNA mutation was known as a cause of 'laminopathy' such as dilated cardiomyopathy, muscular dystrophy, neuropathy and so on. LMNA gene might be a candidate of genetic basis in cryptogenic MGN.
Kumi Fujita, Kazuhiro Hatta
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Integrated analysis reveals the alterations that LMNA interacts with euchromatin in LMNA mutation-associated dilated cardiomyopathy [PDF]
Clinical Epigenetics, 2021 Abstract Background Dilated cardiomyopathy (DCM) is a serious cardiac heterogeneous pathological disease, which may be caused by mutations in the LMNA gene. Lamins interact with not only lamina-associated domains (LADs) but also euchromatin by alone or associates with the lamina-associated polypeptide 2 alpha (LAP2α ...
Xiaolin Zhang +4 more
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LMNA-related dilated cardiomyopathy [PDF]
Oxford Medical Case Reports, 2014 A case of idiopathic dilated cardiomyopathy (DCM) that is likely to be associated with LMNA mutation Arg190Pro in a heterozygote is described. The features of DCM in the patient were conduction disorders, cardiac arrhythmias, progressive heart failure and minor musculoskeletal disturbances.
Vaikhanskaya, Tatiyana +5 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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Mitotic defects lead to pervasive aneuploidy and accompany loss of RB1 activity in mouse LmnaDhe dermal fibroblasts. [PDF]
PLoS ONE, 2011 Lamin A (LMNA) is a component of the nuclear lamina and is mutated in several human diseases, including Emery-Dreifuss muscular dystrophy (EDMD; OMIM ID# 181350) and the premature aging syndrome Hutchinson-Gilford progeria syndrome (HGPS; OMIM ID# 176670)
C Herbert Pratt +3 more
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Phosphorylation of Lamin A/C at serine 22 modulates Nav1.5 function
Physiological Reports, 2021 Variants in the LMNA gene, which encodes for Lamin A/C, are associated with cardiac conduction disease (CCD). We previously reported that Lamin A/C variants p.R545H and p.A287Lfs*193, which were identified in CCD patients, decreased peak INa in HEK‐293 ...
Michael A. Olaopa +5 more
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Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients
Stem Cell Research, 2022 LMNA-related dilated cardiomyopathy (LMNA-DCM) is caused by pathogenic variants in the LMNA gene and is characterized by left ventricular chamber enlargement, reduced systolic function, and arrhythmia.
Sangkyun Cho +7 more
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