Results 71 to 80 of about 2,917 (255)
p53-sensitive epileptic behavior and inflammation in Ft1 hypomorphic mice [PDF]
, 2018 Epilepsy is a complex clinical condition characterized by repeated spontaneous seizures. Seizures have been linked to multiple drivers including DNA damage accumulation.
Alessandro, Vercelli +10 more
core +2 more sources
Informing Dose for Pediatric Rare Diseases—A Survey of Recent Orphan Drugs Approvals
Clinical and Translational Science, Volume 19, Issue 2, February 2026.ABSTRACT Collectively, pediatric rare diseases affect millions of children worldwide. Yet, treatment options are limited. Dose selection presents unique challenges in pediatric rare disease drug development. Traditional dose‐finding approaches are impractical for these populations, and conventional pediatric dosing methods like exposure matching face ...
Elimika Pfuma Fletcher +6 more
wiley +1 more source
Frontiers in Cardiovascular Medicine, 2022 Pathogenic variants in the LMNA gene are known to cause laminopathies, a broad range of disorders with different clinical phenotypes. LMNA genetic variants lead to tissue-specific pathologies affecting various tissues and organs. Common manifestations of
Kseniya Perepelina +10 more
doaj +1 more source
Nuclear envelope defects cause stem cell dysfunction in premature-aging mice [PDF]
, 2012 et al.Nuclear lamina alterations occur in physiological aging and in premature aging syndromes. Because aging is also associated with abnormal stem cell homeostasis, we hypothesize that nuclear envelope alterations could have an important impact on stem ...
Espada, Jesús, Pendás, Alberto M.
core +2 more sources
The fat‐heart entanglement and the role of ‘osteopontin mechanics’ in cardiometabolic senescence
European 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
Frontiers 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
SUMO protease SENP6 protects the nucleus from hyperSUMOylation-induced laminopathy-like alterations
Cell Reports, 2023 Summary: The small ubiquitin-like modifier (SUMO) protease SENP6 disassembles SUMO chains from cellular substrate proteins. We use a proteomic method to identify putative SENP6 substrates based on increased apparent molecular weight after SENP6 depletion.
Magda Liczmanska +6 more
doaj +1 more source
Myogenic Precursors from iPS Cells for Skeletal Muscle Cell Replacement Therapy. [PDF]
, 2015 The use of adult myogenic stem cells as a cell therapy for skeletal muscle regeneration has been attempted for decades, with only moderate success. Myogenic progenitors (MP) made from induced pluripotent stem cells (iPSCs) are promising candidates for ...
Alvarez Palomo, Ana Belen +3 more
core +3 more sources
Active microrheology using pulsed optical tweezers to probe viscoelasticity of Lamin A towards diagnosis of laminopathies [PDF]
, 2021 C. D. Mukherjee +4 more
openalex +1 more source
Mechanical Stress Triggers Premature Senescence in Cardiac Fibroblasts
Advanced Science, Volume 12, Issue 47, December 18, 2025.Cellular senescence contributes to disease burden in cardiovascular disease (CVD) and aging, highlighting the need to understand its induction. In primary cardiac fibroblasts, reduced strain and increased frequency, mimicking CVD, elicit a distinct senescent phenotype compared to oxidative stress.
Stephanie E. Schneider +5 more
wiley +1 more source