Results 81 to 90 of about 13,916 (214)
Mechanobiology of the Nucleolus
Biology of the Cell, Volume 118, Issue 2, February 2026.Mechanical forces reshape nuclear structure and reorganize the nucleolus, altering its role in ribosome biogenesis. This review examines how mechanical cues impact nucleolar assembly and function. We propose that the nucleolus acts as a mechano‐responsive condensate integrating mechanical stress with cellular homeostasis.
Yuthika Shetty, Monika Elzbieta Dolega
wiley +1 more source
Indian journal of dermatology, venereology and leprology, 2017 A year old male child developed progeria manifesting most of the typical changes described in progeria. The boy also had extensive sclerodermatous changes in the skin.
R P C, Naik, E P, Eapen, B, Joseph
openaire +3 more sources
The thermodynamics of metabolism, cardiovascular performance and exercise, in health and diabetes: The objective of clinical markers [PDF]
, 2013 Extensive experience in UK National Health Service metabolic syndrome/type 2 diabetes clinics highlights the need for convenient clinical marker(s) which can be readily used to indicate the success or otherwise of alternative therapies.
Atherton, MA +4 more
core
Genetic Landscape of Robin Sequence: A Systematic Review
Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde +8 more
wiley +1 more source
Iatreia, 2010 INTRODUCCIÓN : mutaciones en el gen LMNA, LAMINA A/C; originan un grupo de desordenes genéticos que pueden ser clasificados en cuatro grupos: enfermedades de músculo estriado y cardiaco, síndromes lipodistroficos, neuropatías periféricas y progeria (1 ...
Lucero Tarin A. +2 more
doaj
Revista chilena de pediatría, 2002 Resumen La progeria o síndrome de Hutchinson-Gilford esun síndrome poco frecuente. Consiste en la aparición de signos de envejecimiento en niños entre su primer y segundo año de vida. La mayoría de los casos de progeria son esporádicos, lo cual plantea la posibilidad de un patrón de herencia autosómico dominante por mutación de novo.
Pardo V., Rosa Andrea +1 more
openaire +2 more sources
iTRAQ-Based Analysis of Progerin Expression Reveals Mitochondrial Dysfunction, Reactive Oxygen Species Accumulation and Altered Proteostasis [PDF]
, 2015 [Abstract] Introduction. Nuclear accumulation of a mutant form of the nuclear protein Lamin-A, called Progerin (PG) or Lamin AΔ50, occurs in Hutchinson-Gilford Progeria Syndrome (HGPS) or Progeria, an accelerated aging disease. One of the main symptoms
Arufe, M.C. +10 more
core +3 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
DNA damage: A main determinant of vascular aging [PDF]
, 2016 Vascular aging plays a central role in health problems and mortality in older people. Apart from the impact of several classical cardiovascular risk factors on the vasculature, chronological aging remains the single most important determinant of ...
Bautista-Niño, P.K. (Paula) +4 more
core +2 more sources
Emerging Therapeutic Strategies in Anti‐Aging Medicine: A Comprehensive Review
Medicine Bulletin, Volume 2, Issue 1, Page 94-123, January 2026.ABSTRACT Aging is orchestrated by interconnected hallmarks such as genomic instability, mitochondrial dysfunction, cellular senescence, and disrupted intercellular communication, which collectively drive chronic disease progression. Recent advances have expanded therapeutic opportunities to include pharmacological agents, gene and epigenome editing ...
Yundong Peng +8 more
wiley +1 more source