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
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
Nuclear rupture at sites of high curvature compromises retention of DNA repair factors. [PDF]
, 2018 The nucleus is physically linked to the cytoskeleton, adhesions, and extracellular matrix-all of which sustain forces, but their relationships to DNA damage are obscure. We show that nuclear rupture with cytoplasmic mislocalization of multiple DNA repair
Alshareeda +64 more
core +2 more sources
Management of cataract in Werner syndrome
Indian Journal of Ophthalmology, 2018 Werner syndrome (WS) is a rare progressive disorder. It is characterized by the appearance of unusually accelerated aging (progeria) including bilateral senile cataract. Here, we report a successful management of hypermature cataract in WS.
Rakhi Kusumesh +3 more
doaj +1 more source
Understanding Health and Disease with Multidimensional Single-Cell Methods
, 2013 Current efforts in the biomedical sciences and related interdisciplinary fields are focused on gaining a molecular understanding of health and disease, which is a problem of daunting complexity that spans many orders of magnitude in characteristic length
Banavar, Jayanth R. +2 more
core +1 more source
Mass spectrometry captures off-target drug binding and provides mechanistic insights into the human metalloprotease ZMPSTE24. [PDF]
, 2016 Off-target binding of hydrophobic drugs can lead to unwanted side effects, either through specific or non-specific binding to unintended membrane protein targets.
Carpenter, Elisabeth P +7 more
core +2 more sources
Cell Reports, 2018 Summary: Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease caused by a truncated lamin A protein (progerin) that drives cellular and organismal decline.
Ray Kreienkamp +9 more
doaj +1 more source
Aging as a consequence of misrepair -- A novel theory of aging [PDF]
, 2009 It is now increasingly realized that the underlying mechanisms which govern aging is a complex interplay of genetic regulation and damage accumulation. Aging as a result of accumulation of ‘faults’ on cellular and molecular levels, has been
Arne Wunderlin +3 more
core +4 more sources
Mouse models of ageing and their relevance to disease [PDF]
, 2016 Ageing is a process that gradually increases the organism’s vulnerability to death. It affects different biological pathways, and the underlying cellular mechanisms are complex.
Dogan, Soner +5 more
core +2 more sources
Erythrocyte Senescence in a Model of Rat Displaying Hutchinson-Gilford Progeria Syndrome
Analytical Cellular Pathology, 2018 Background. Increased oxidative stress is a major cause of aging and age-related diseases. Erythrocytes serve as good model for aging studies. Dihydrotachysterol is known to induce premature aging feature in rats mimicking Hutchinson-Gilford progeria ...
Manoj Kumar Chaudhary +1 more
doaj +1 more source