Results 61 to 70 of about 7,451 (172)
Mutations Involved in Premature-Ageing Syndromes
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
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley +1 more source
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.
Michael Morris, Joshua Yap, Henry Knipe
openaire +3 more sources
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
Erythrocyte Senescence in a Model of Rat Displaying Hutchinson-Gilford Progeria Syndrome
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
Ocular manifestations in the Hutchinson-Gilford progeria syndrome
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
ABSTRACT CRISPR‐Cas9 systems revolutionized gene editing, but inherent drawbacks, namely DNA double‐strand breaks (DSBs) and the difficulty of achieving precise repairs (due to low HDR efficiency), led researchers to invent new, more accurate gene editing tools.
Melike Aliciaslan +3 more
wiley +1 more source
The data of literature, reflecting etiology, clinical features and differential diagnosis of progeria of childhood and adult are ...
Utz S.R. +3 more
doaj
Induction of diabetes in three different mouse strains uniformly resulted in an increase in TNAP activity and a reduction in pyrophosphate (PPi) in the circulation. Inhibition of TNAP restored plasma PPi. Diabetes‐induced calcification in the media layer of the aorta was detected only in the Abcc6−/− strain, which is predisposed to ectopic ...
Krisztina Fülöp +13 more
wiley +1 more source
DNA Methylation Signatures of Cellular Senescence Are Not Reversed by Senolytic Treatment
We found very little overlap between CpGs that were correlated with in vitro senescence, chronological age, and mortality. While we were able to train epigenetic clocks with CpGs that accelerated with cellular senescence, these clocks did not decelerate with Senolytic treatment. ABSTRACT Epigenetic clocks are commonly used aging biomarkers based on DNA
Jessica Kasamoto +7 more
wiley +1 more source

