Results 21 to 30 of about 22,553 (288)
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 +4 more sources
Identification of novel RNA isoforms of LMNA [PDF]
Nucleus, 2017 The nuclear lamina is a proteinaceous meshwork situated underneath the inner nuclear membrane and is composed of nuclear lamin proteins, which are type-V intermediate filaments. The LMNA gene gives rise to lamin A and lamin C through alternative splicing.
Emily A. DeBoy +5 more
openalex +4 more sources
bioRxiv, 2023 Mutations in the LMNA gene encoding nuclear lamins A/C cause a diverse array of tissue-selective diseases, with the heart being the most commonly affected organ. Despite progress in understanding the molecular perturbations emanating from LMNA mutations,
Kunal Sikder +11 more
semanticscholar +1 more source
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
openaire +3 more sources
Journal of Translational Medicine, 2023 After evaluation of 14 potential candidates in a cardiac-specific Lmna DCM model, we demonstrated that Smad3 shRNA, Yy1 , combination of Bmp7 and Ctgf ( Bmp7 - Ctgf shRNA), Yap1 , Sun1 shRNA, Lamin A, and Lamin C improved cardiac function. Sun1 shRNA and
Chia Yee Tan +12 more
semanticscholar +1 more source
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
doaj +1 more source
Characterization of cardiac involvement in children with LMNA-related muscular dystrophy
Frontiers in Cell and Developmental Biology, 2023 Introduction: LMNA-related muscular dystrophy is a rare entity that produce “laminopathies” such as Emery–Dreifuss muscular dystrophy (EDMD), limb–girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD).
Sergi César +18 more
semanticscholar +1 more source
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.
O. G. Davydenko +5 more
openaire +3 more sources
Frontiers in Cardiovascular Medicine, 2023 Introduction Cardiac laminopathies are caused by mutations in the LMNA gene and include a wide range of clinical manifestations involving electrical and mechanical changes in cardiomyocytes.
P. Guevara-Ramírez +9 more
semanticscholar +1 more source
Deletion of the Gene Induces Growth Delay and Serum Biochemical Changes in C57BL/6 Mice [PDF]
Asian-Australasian Journal of Animal Sciences, 2014 The A-type lamin deficient mouse line (Lmna−/−) has become one of the most frequently used models for providing insights into many different aspects of A-type lamin function.
J. Ruan +9 more
doaj +1 more source