Results 71 to 80 of about 7,521 (211)
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
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
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
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
Promising Results With NAD Supplementation in Rare Diseases With Premature Aging and DNA Damage
Aging Cell, Volume 25, Issue 1, January 2026.Increased DNA damage leads to increased parylation, causing mitochondrial dysfunction. This happens when DNA repair is defective, for example in known diseases and DNA repair capacity varies between individuals, some being at higher risk for hyperparylation.
Vilhelm A. Bohr
wiley +1 more source
Trends in PediatricsHutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by premature aging resulting from an autosomal mutation in the LMNA gene.
Nelson Carlos Reis-Filho +6 more
doaj +1 more source
A Case Report of Hutchinson-Gilford Progeria Syndrome
The Journal of Qazvin University of Medical Sciences, 2019 Hutchinson-Gilford Progeria Syndrome (HGPS), a rare genetic condition occurs one in every 8 million live births. HGPS is characterized by premature aging in various organs.
Siamak Yaghoubi +4 more
doaj +1 more source
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
Aging Cell, Volume 25, Issue 1, January 2026.P62‐TIF‐IA–mediated regulation of senescence and ageing. In healthy tissue, p62 facilitates TIF‐IA turnover. Upon senescence induction, ATM activation increases TIF‐IA phosphorylation at S44, reducing its p62 binding and causing TIF‐IA accumulation.
Hazel C. Thoms +17 more
wiley +1 more source
Recent Advances in Animal and Human Pluripotent Stem Cell Modeling of Cardiac Laminopathy [PDF]
, 2016 published_or_final_versio
Jiang, Y +7 more
core +1 more source