Results 41 to 50 of about 5,533 (240)

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

Dialing Down SUN1 for Laminopathies [PDF]

open access: yesCell, 2012
Laminopathies, caused by mutations in A-type nuclear lamins, encompass a range of diseases, including forms of progeria and muscular dystrophy. In this issue, Chen et al. provide evidence that elevated expression of the nuclear inner membrane protein SUN1 drives pathology in multiple laminopathies.
Suh, Yousin, Kennedy, Brian K.
openaire   +2 more sources

Age-dependent changes of nuclear morphology are uncoupled from longevity in Caenorhabditis elegans IGF/insulin receptor daf-2 mutants [PDF]

open access: yes, 2016
Nuclear envelope (NE) architecture and aging have been associated since the discovery that certain human progeria diseases are due to perturbations in processing of lamin A protein, generating alterations in NE morphology. However, whether changes in the
Askjaer, Peter   +4 more
core   +1 more source

From Cellular Characteristics to Disease Diagnosis: Uncovering Phenotypes with Supercells [PDF]

open access: yes, 2013
Cell heterogeneity and the inherent complexity due to the interplay of multiple molecular processes within the cell pose difficult challenges for current single-cell biology.
Banavar, Jayanth R.   +12 more
core   +5 more sources

Nuclear lamins and laminopathies [PDF]

open access: yesThe Journal of Pathology, 2011
AbstractNuclear lamins are intermediate filament proteins that polymerize to form the nuclear lamina on the inner aspect of the inner nuclear membrane. Long known to be essential for maintaining nuclear structure and disassembling/reassembling during mitosis in metazoans, research over the past dozen years has shown that mutations in genes encoding ...
openaire   +2 more sources

Pushing the limit on laminopathies

open access: yesNature Materials, 2020
Mutations in lamins in skeletal muscle cells have been shown to reduce nuclear stability, increase nuclear envelope rupture, and induce DNA damage and cell death. New research shows that limiting mechanical loads can rescue myofibre function and viability.
Joel C, Eissenberg, Susana, Gonzalo
openaire   +3 more sources

Mouse models for understanding the molecular mechanism of bone disease in Hutchinson-Gilford progeria syndrome [PDF]

open access: yes, 2011
Aging is a complex process affecting all people. Intense research is applied to elucidate the biological basis of aging and disease that develop with aging.
Schmidt, Eva
core   +1 more source

Mouse models of laminopathies

open access: yesAging Cell, 2012
AbstractThe A‐ and B‐type lamins are nuclear intermediate filament proteins in eukaryotic cells with a broad range of functions, including the organization of nuclear architecture and interaction with proteins in many cellular functions. Over 180 disease‐causing mutations, termed ‘laminopathies,’ have been mapped throughout LMNA, the gene for A‐type ...
Haoyue, Zhang   +2 more
openaire   +2 more sources

Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells. [PDF]

open access: yes, 2017
published_or_final_versio
Cai, Z   +7 more
core   +1 more source

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