Common Genomic Variation in LMNA Modulates Indexes of Obesity in Inuit [PDF]
, 2001 "We discovered that rare mutations in LMNA, which encodes lamins A and C, underlie autosomal dominant Dunnigan-type familial partial lipodystrophy.
Hegele, Robert A. +2 more
core +1 more source
SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells [PDF]
, 2018 LMNA gene encodes lamins A and C, two major components of the nuclear lamina, a network of intermediate filaments underlying the inner nuclear membrane. Most of LMNA mutations are associated with cardiac and/or skeletal muscles defects.
Bertrand A +11 more
core +2 more sources
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
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 +7 more
doaj +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 +7 more
openaire +2 more sources
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 +10 more
core +1 more source
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
LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice. [PDF]
PLoS ONE, 2010 The lamin A/C (LMNA), nuclear intermediate filament proteins, is a basic component of the nuclear lamina. Mutations in LMNA are associated with a broad range of laminopathies, congenital diseases affecting tissue regeneration and homeostasis.
Dan Lu +6 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 +5 more
openaire +3 more sources
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 +10 more
doaj +1 more source