Results 81 to 90 of about 2,659 (169)

The fat‐heart entanglement and the role of ‘osteopontin mechanics’ in cardiometabolic senescence

open access: yesEuropean Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.
Abstract Background Residual cardiovascular (CV) risk persists despite therapeutic advances. Obesity is heterogeneous, and visceral adipose tissue (VAT) dysfunction (‘adiposopathy’) complicates risk stratification. Osteopontin (OPN) is a pleiotropic mediator implicated in VAT inflammation, senescence‐associated pathways, atherosclerosis and myocardial ...
Cristina Michelauz   +3 more
wiley   +1 more source

Nuclear Organization in Stress and Aging

open access: yesCells, 2019
The eukaryotic nucleus controls most cellular processes. It is isolated from the cytoplasm by the nuclear envelope, which plays a prominent role in the structural organization of the cell, including nucleocytoplasmic communication, chromatin positioning,
Raquel Romero-Bueno   +4 more
doaj   +1 more source

Whole‐Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families

open access: yesHuman Mutation, Volume 2026, Issue 1, 2026.
Background Muscular dystrophies (MDs) are a genetically heterogeneous group of disorders, posing significant diagnostic challenges, especially in populations with high consanguinity. Despite advances in genetic testing, a substantial proportion of patients remain undiagnosed.
Nasibeh Soltani   +14 more
wiley   +1 more source

The Structural Basis of ZMPSTE24-Dependent Laminopathies

open access: yesScience, 2013
Lamin Loppers The nuclear lamina provides mechanical stability to the nuclear envelope and is involved in regulation of cellular processes such as DNA replication. Defects in the nuclear lamina lead to diseases such as progeria and metabolic disorders.
Quigley, A   +13 more
openaire   +2 more sources

The Emerging Role of Lamin C as an Important LMNA Isoform in Mechanophenotype

open access: yesFrontiers in Cell and Developmental Biology, 2018
Lamin A and lamin C isoforms of the gene LMNA are major structural and mechanotransductive components of the nuclear lamina. Previous reports have proposed lamin A as the isoform with the most dominant contributions to cellular mechanophenotype. Recently,
Rafael D. González-Cruz   +3 more
doaj   +1 more source

Lamin A/C, laminopathies and premature ageing.

open access: yesHistology and histopathology, 2008
Lamin A/C belongs to type V intermediate filaments and constitutes the nuclear lamina and nuclear matrix, where a variety of nuclear activities occur. Lamin A/C protein is firstly synthesized as a precursor and is further proteolytically processed by the zinc metallo-proteinase Ste24 (Zmpste24).
Zhou, Z, Liu, B
openaire   +4 more sources

Emerging perspectives on laminopathies

open access: yesCell Health and Cytoskeleton, 2016
Laminopathies are a group of inherited disorders caused by mutations in the lamin A/C gene, and can affect diverse organs or tissues, or can be systemic, causing premature aging. In the present review, we report on the composition and structure of the nuclear lamina and the role of lamins in nuclear mechanics and their involvement in human diseases ...
Lattanzi, Giovanna   +6 more
openaire   +3 more sources

Physiological and pathological ageing affects chromatin dynamics, structure and function at the nuclear edge

open access: yesFrontiers in Genetics, 2016
Lamins are intermediate filaments that form a complex meshwork at the inner nuclear membrane. Mammalian cells express two types of Lamins, Lamins A/C and Lamins B, encoded by three different genes, LMNA, LMNB1 and LMNB2.
Jérôme D. Robin, Frederique Magdinier
doaj   +1 more source

Editorial: Is aberrant genome organization a cause or consequence of specific diseases?

open access: yesFrontiers in Cell and Developmental Biology, 2023
Eric C. Schirmer, Joanna M. Bridger
doaj   +1 more source

Characterization and natural history of patients with LMNA‐related dilated cardiomyopathy in the phase 3 REALM‐DCM trial

open access: yesESC Heart Failure
Aims LMNA‐related dilated cardiomyopathy (DCM) is a rare disease with an incompletely defined phenotype. The phase 3 REALM‐DCM trial evaluated a potential disease‐modifying therapy for LMNA‐related DCM but was terminated due to futility without safety ...
Pablo Garcia‐Pavia   +12 more
doaj   +1 more source

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