Results 71 to 80 of about 13,916 (214)

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

open access: yesFrontiers in Cell and Developmental Biology, 2019
Emerin (EMD) and barrier to autointegration factor 1 (BANF1) each bind A-type lamins (LMNA) as fundamental components of nuclear lamina structure. Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery ...
Tejas Dharmaraj   +5 more
doaj   +1 more source

Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome. [PDF]

open access: yes, 2018
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, but devastating genetic disease characterized by segmental premature aging, with cardiovascular disease being the main cause of death.
Abrudan, Monica   +17 more
core   +2 more sources

SIRT6 Regulates Protein Synthesis and Folding Through Nucleolar Remodeling

open access: yesAging Cell, Volume 25, Issue 2, February 2026.
SIRT6 regulates proteostasis through nucleolar regulation. SIRT6 regulates (A) pre‐rRNA editing through nucleolar factors, as well as (B) rRNA transcription through TIP5 – and thus the NoRC – chromatin recruitment. (C) Once SIRT6 is depleted, the rRNA production and editing are increased, leading to a dramatic elevation in translation rates.
Daniel Stein   +13 more
wiley   +1 more source

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes

open access: yesFrontiers in Genetics, 2017
Mutations in LMNA, encoding nuclear intermediate filament proteins lamins A and C, cause multiple diseases (‘laminopathies’) including muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy (FPLD2), insulin resistance syndrome and ...
Alyssa Florwick   +4 more
doaj   +1 more source

Accurate detection of dysmorphic nuclei using dynamic programming and supervised classification [PDF]

open access: yes, 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   +3 more sources

In Vivo Chemical Reprogramming Is Associated With a Toxic Accumulation of Lipid Droplets Hindering Rejuvenation

open access: yesAging Cell, Volume 25, Issue 2, February 2026.
Partial chemical reprogramming significantly increases mitochondrial interaction networks, affects mitochondrial morphology, speeds up mitochondrial movement dynamics, increases mitochondrial transmembrane potential, and induces TCA cycle stress. These changes in mitochondrial function contribute to lipid droplet accumulation, acute kidney injury, and ...
Wayne Mitchell   +9 more
wiley   +1 more source

Secretome Profiling of Young Multipotent Stem Cells Reveals Angiogenic and Immunomodulatory Mechanisms Supporting Aged Neuromuscular Health

open access: yesAging Cell, Volume 25, Issue 2, February 2026.
Young multipotent muscle‐derived stem/progenitor cells (MDSPCs) secrete a unique profile of pro‐angiogenic and immunomodulatory proteins that are diminished with age. Systemic transplantation of young MDSPCs into naturally aged mice activates pathways in neuromuscular tissues, enhancing health and driving molecular, structural, and functional ...
Seth D. Thompson   +5 more
wiley   +1 more source

Mutations Involved in Premature-Ageing Syndromes

open access: yesThe Application of Clinical Genetics, 2021
Fabio CoppedèDepartment of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, ItalyCorrespondence: Fabio CoppedèDepartment of Translational Research and of New Surgical and Medical Technologies ...
Coppedè F
doaj  

Ocular manifestations in the Hutchinson-Gilford progeria syndrome

open access: yesIndian Journal of Ophthalmology, 2011
The Hutchinson-Gilford progeria (HGP) syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children. The word progeria is derived from the Greek word progeros meaning ′prematurely old′. It is caused by de
Shivcharan L Chandravanshi   +3 more
doaj   +1 more source

Inflammation and premature aging in advanced chronic kidney disease [PDF]

open access: yes, 2017
Systemic inflammation in end-stage renal disease (ESRD) is an established risk factor for mortality and a catalyst for other complications which are related to a premature aging phenotype, including muscle wasting, vascular calcification and other forms ...
Casper G. Schalkwijk   +9 more
core   +1 more source

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