Results 141 to 150 of about 17,639 (297)
From the Rarest to the Most Common: Insights from Progeroid Syndromes into Skin Cancer and Aging [PDF]
, 2009 Despite their rarity, diseases of premature aging, or “progeroid” syndromes, have provided important insights into basic mechanisms that may underlie cancer and normal aging.
Capell, Brian C. +2 more
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EMBO Molecular Medicine, 2019 Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder caused by progerin, a mutant lamin A variant. HGPS patients display accelerated aging and die prematurely, typically from atherosclerosis complications. Recently, we demonstrated that
Magda R Hamczyk +9 more
doaj +1 more source
Frontiers in Genetics, 2017 Mutations in LMNA, encoding nuclear intermediate filament proteins lamins A and C, cause multiple diseases (‘laminopathies’) including muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy (FPLD2), insulin resistance syndrome and ...
Alyssa Florwick +4 more
doaj +1 more source
Progeria: Translational insights from cell biology [PDF]
, 2012 Cell biologists love to think outside the box, pursuing many surprising twists and unexpected turns in their quest to unravel the mysteries of how cells work. But can cell biologists think outside the bench? We are certain that they can, and clearly some
Cao, Kan +2 more
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Single-Dose CRISPR/Cas9 Therapy Extends Lifespan of Mice with Hutchinson-Gilford Progeria Syndrome
Nature Network Boston, 2018 Hutchinson–Gilford progeria syndrome (HGPS) is a rare lethal genetic disorder characterized by symptoms reminiscent of accelerated aging. The major underlying genetic cause is a substitution mutation in the gene coding for lamin A, causing the production
Ergin Beyret +7 more
semanticscholar +1 more source
Hutchinson-Gilford Progeria Syndrome: Cellular Mechanisms and Therapeutic Perspectives.
Archives of Medical Research, 2023 B. Cisneros +4 more
semanticscholar +1 more source
Frontiers in Cell and Developmental Biology, 2019 Emerin (EMD) and barrier to autointegration factor 1 (BANF1) each bind A-type lamins (LMNA) as fundamental components of nuclear lamina structure. Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery ...
Tejas Dharmaraj +5 more
doaj +1 more source
Two Brothers with Infantilism, Showing Some Features of Progeria, Associated with Microcephaly, Retinal Degeneration and Intracranial Calcification [PDF]
, 1948 Catherine A. Neill +2 more
openalex +1 more source