Results 21 to 30 of about 3,472 (172)

Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent “Lone AF” Patients: Results and Insights

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, Gabrielle D'Arezzo Pessente, Luciana Sacilotto, Zaine Oliveira Calil, Natalia Quintella Sangiorgi Olivetti, Fanny Wulkan, Théo Gremen Mimary de Oliveira, Anísio Alexandre Andrade Pedrosa, Tan Chen Wu, Denise Tessariol Hachul, Maurício Ibrahim Scanavacca, José Eduardo Krieger, Francisco Carlos da Costa Darrieux, Alexandre da Costa Pereira   +13 more
doaj   +1 more source

Timing of pacemaker and ICD implantation in LMNA mutation carriers [PDF]

, 2021
Aims LMNA-cardiomyopathy is often associated with pathology in the cardiac conduction system necessitating device implantations. The aim was to study the timing and types of device implantations and need for re-implantations in LMNA mutation carriers ...
Ollila, Laura Helena, Parikka, Hannu, Kjell Nikus, Weckström, Sini, Nikus, Kjell, Sini Weckström, Heliö, Tiina, Laura Helena Ollila, Hannu Parikka, Heliö Tiina   +9 more
core   +1 more source

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, Michelle Curtain, Leah Rae Donahue, Lindsay S Shopland   +3 more
doaj   +1 more source

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, Tomohiko Ai, Bo Chao, Xiangshu Xiao, Matteo Vatta, Beth A. Habecker   +5 more
doaj   +1 more source

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, Chelsea Lee, Celine Lai, Yan Zhuge, Francois Haddad, Michael Fowler, Karim Sallam, Joseph C. Wu   +7 more
doaj   +1 more source

Current insights into LMNA cardiomyopathies: Existing models and missing LINCs. [PDF]

, 2017
The nuclear lamina is a critical structural domain for the maintenance of genomic stability and whole-cell mechanics. Mutations in the LMNA gene, which encodes nuclear A-type lamins lead to the disruption of these key cellular functions, resulting in a ...
Brayson, D., Shanahan, C.M.
core   +1 more source

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy [PDF]

Human Genome Variation, 2018
AbstractLMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. LMNA encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelope. We performed sequence analysis based on our original targeted gene panel system for muscle diseases to obtain a molecular ...
Akihiko Ishiyama, Aritoshi Iida, Shinichiro Hayashi, Hirofumi Komaki, Masayuki Sasaki, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino   +7 more
openaire   +2 more sources

Nuclear lamin phosphorylation: an emerging role in gene regulation and pathogenesis of laminopathies

Nucleus, 2020
Decades of studies have established that nuclear lamin polymers form the nuclear lamina, a protein meshwork that supports the nuclear envelope structure and tethers heterochromatin to the nuclear periphery.
Sunny Yang Liu, Kohta Ikegami
doaj   +1 more source

Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517X

Frontiers in Cell and Developmental Biology, 2022
In this work, we studied an lmna nonsense mutation encoding for the C-terminally truncated Lamin A/C (LMNA) variant Q517X, which was described in patients affected by a severe arrhythmogenic cardiomyopathy with history of sudden death. We found that LMNA
Roberta De Zio, Giusy Pietrafesa, Serena Milano, Giuseppe Procino, Manuela Bramerio, Martino Pepe, Cinzia Forleo, Stefano Favale, Maria Svelto, Andrea Gerbino, Monica Carmosino   +10 more
doaj   +1 more source

Viscoelastic behavior of cardiomyocytes carrying LMNA mutations [PDF]

Biorheology: The Official Journal of the International Society of Biorheology, 2020
BACKGROUND: Laminopathies are genetic diseases caused by mutations in the nuclear lamina. OBJECTIVE: Given the clinical impact of laminopathies, understanding mechanical properties of cells bearing lamin mutations will lead to ...
Daniele Bori, Brisa Peña, Matthew R. G. Taylor, Luisa Mestroni, Romano Lapasin, Orfeo Sbaizero   +5 more
openaire   +3 more sources