Results 1 to 10 of about 5,061 (213)
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
doaj +5 more sources
Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features
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
exaly +3 more sources
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 ...
Peter S Zammit +2 more
exaly +3 more sources
Cellular and Animal Models of Striated Muscle Laminopathies
Cells, 2019 The lamin A/C (LMNA) gene codes for nuclear intermediate filaments constitutive of the nuclear lamina. LMNA has 12 exons and alternative splicing of exon 10 results in two major isoforms—lamins A and C.
Hannah A Nicolas +2 more
exaly +3 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.
Kohta Ikegami
exaly +2 more sources
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
doaj +1 more source
Need for NAD+: Focus on Striated Muscle Laminopathies
Cells, 2020 Laminopathies are a heterogeneous group of rare diseases caused by genetic mutations in the LMNA gene, encoding A-type lamins. A-type lamins are nuclear envelope proteins which associate with B-type lamins to form the nuclear lamina, a meshwork ...
Déborah Cardoso, Antoine Muchir
doaj +1 more source
Stem Cell Research, 2020 Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p.
Kseniya Perepelina +9 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 Cesar +47 more
doaj +1 more source
Accurate detection of dysmorphic nuclei using dynamic programming and supervised classification [PDF]
, 2017 A vast array of pathologies is typified by the presence of nuclei with an abnormal morphology. Dysmorphic nuclear phenotypes feature dramatic size changes or foldings, but also entail much subtler deviations such as nuclear protrusions called blebs.
Catrysse, Hannes +5 more
core +5 more sources