Results 61 to 70 of about 7,451 (172)

Mutations Involved in Premature-Ageing Syndromes

open access: yesThe Application of Clinical Genetics, 2021
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  

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

open access: yesClinical and Translational Science, Volume 19, Issue 5, May 2026.
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

Progeria

open access: yesIndian 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.
Michael Morris, Joshua Yap, Henry Knipe
openaire   +3 more sources

Síndrome de progeria de Hutchinson Gilford: mutación silenciosa gly608gly en el gen lmna: reporte de caso y revisión

open access: yesIatreia, 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  

Erythrocyte Senescence in a Model of Rat Displaying Hutchinson-Gilford Progeria Syndrome

open access: yesAnalytical 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

Ocular manifestations in the Hutchinson-Gilford progeria syndrome

open access: yesIndian Journal of Ophthalmology, 2011
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

Advances in CRISPR Base Editing: From Molecular Evolution to Therapeutic Applications in Genomic Medicine

open access: yesJournal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.
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

Progeria [PDF]

open access: yesСаратовский научно-медицинский журнал, 2014
The data of literature, reflecting etiology, clinical features and differential diagnosis of progeria of childhood and adult are ...
Utz S.R.   +3 more
doaj  

Diabetes‐induced vascular calcification is associated with low pyrophosphate and its oral supplementation prevents calcification in diabetic mice

open access: yesFEBS Open Bio, Volume 16, Issue 3, Page 474-486, March 2026.
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

open access: yesAging Cell, Volume 25, Issue 3, March 2026.
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

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