Results 1 to 10 of about 3,036 (198)

Lamin A/C Mechanotransduction in Laminopathies

open access: yesCells, 2020
Mechanotransduction translates forces into biological responses and regulates cell functionalities. It is implicated in several diseases, including laminopathies which are pathologies associated with mutations in lamins and lamin-associated proteins ...
Francesca Donnaloja   +3 more
doaj   +3 more sources

Clinical Profile, Arrhythmias, and Adverse Cardiac Outcomes in Emery–Dreifuss Muscular Dystrophies: A Systematic Review of the Literature

open access: yesBiology, 2022
Cardiolaminopathies are a heterogeneous group of disorders which are due to mutations in the genes encoding for nuclear lamins or their binding proteins. The whole spectrum of cardiac manifestations encompasses atrial arrhythmias, conduction disturbances,
Anna Chiara Valenti   +7 more
doaj   +1 more source

The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence [PDF]

open access: yesOpen 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   +1 more source

Nuclear filaments: role in chromosomal positioning and gene expression

open access: yesNucleus, 2020
Nuclear lamins form an elastic meshwork underlying the inner nuclear membrane and provide mechanical rigidity to the nucleus and maintain shape. Lamins also maintain chromosome positioning and play important roles in several nuclear processes like ...
Manindra Bera, Kaushik Sengupta
doaj   +1 more source

Extracts Prepared from a Canadian Toxic Plant Induce Light-Dependent Perinuclear Vacuoles in Human Cells

open access: yesToxins, 2021
We are investigating plant species from the Canadian prairie ecological zone by phenotypic cell assays to discover toxins of biological interest. We provide the first report of the effects of extracts prepared from the shrub Symphoricarpos occidentalis ...
Jan M. Tuescher   +6 more
doaj   +1 more source

Nuclear lamins: Structure and function in mechanobiology

open access: yesAPL Bioengineering, 2022
Nuclear lamins are type V intermediate filament proteins that polymerize into complex filamentous meshworks at the nuclear periphery and in less structured forms throughout the nucleoplasm.
Amir Vahabikashi   +3 more
doaj   +1 more source

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary

open access: yesCells, 2022
Mutations in genes encoding proteins associated with the linker of nucleoskeleton and cytoskeleton (LINC) complex within the nuclear envelope cause different diseases with varying phenotypes including skeletal muscle, cardiac, metabolic, or nervous ...
Emily C. Storey, Heidi R. Fuller
doaj   +1 more source

Structural and Mechanical Aberrations of the Nuclear Lamina in Disease

open access: yesCells, 2020
The nuclear lamins are the major components of the nuclear lamina in the nuclear envelope. Lamins are involved in numerous functions, including a role in providing structural support to the cell and the mechanosensing of the cell.
Merel Stiekema   +3 more
doaj   +1 more source

Clinical and genetic characteristics of hereditary laminopathies

open access: yesАнналы клинической и экспериментальной неврологии, 2017
Naminopathies belong to a wide allelic series of diseases caused by mutations of one gene, LMNA, encoding for protein lamin A/C. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive EmeryDreifuss muscular dystrophy ...
E. L. Dadaly, D. S. Bileva, I. V. Ugarov
doaj   +1 more source

The empowerment of translational research: lessons from laminopathies

open access: yesOrphanet Journal of Rare Diseases, 2012
The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009.
Benedetti Sara   +40 more
doaj   +1 more source

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