Results 31 to 40 of about 17,639 (297)
Case of mandibuloacral dysplasia with type B lipodystrophy
Indian Journal of Paediatric Dermatology, 2021 Introduction: Mandibuloacral dysplasia with type B lipodystrophy (MADB) caused by compound heterozygous mutation in the ZMPSTE24 gene is characterized by generalized lipodystrophy and short stature.
Sanober Burzin Daruwalla +3 more
doaj +1 more source
Hutchinson-Gilford Progeria Syndrome: A Literature Review
Cureus, 2022 Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging condition that involves genetic mutations, resulting in debilitating phenotypic features.
Aselah Lamis +5 more
semanticscholar +1 more source
The intrinsic stiffness of human trabecular meshwork cells increases with senescence. [PDF]
, 2015 Dysfunction of the human trabecular meshwork (HTM) plays a central role in the age-associated disease glaucoma, a leading cause of irreversible blindness.
Chang, Yow-Ren +4 more
core +7 more sources
Telomerase therapy reverses vascular senescence and extends lifespan in progeria mice.
European Heart Journal, 2021 AIMS Hutchinson-Gilford progeria syndrome (HGPS) is an accelerated ageing syndrome associated with premature vascular disease and death due to heart attack and stroke. In HGPS a mutation in lamin A (progerin) alters nuclear morphology and gene expression.
A. Mojiri +10 more
semanticscholar +1 more source
Journal of Medical Genetics, 1974 A pair of male monozygotic twins, both affected by progeria is described. The concordance in this manifestation suggests a genetic aetiology and other evidence indicates the implication of autosomal recessive factors; the chromosomes of these patients show no detectable abnormalities.
Francisco M. Salzano +2 more
openaire +2 more sources
Cells, 2021 Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease caused by a mutation in LMNA. A G608G mutation in exon 11 of LMNA is responsible for most HGPS cases, generating a truncated protein called “progerin”.
Jennifer M. Röhrl +2 more
doaj +1 more source
Vascular Smooth Muscle-Specific Progerin Expression Accelerates Atherosclerosis and Death in a Mouse Model of Hutchinson-Gilford Progeria Syndrome [PDF]
, 2018 Background: Progerin, an aberrant protein that accumulates with age, causes the rare genetic disease Hutchinson-Gilford progeria syndrome (HGPS). Patients who have HGPS exhibit ubiquitous progerin expression, accelerated aging and atherosclerosis, and ...
Andrés Manzano, María J. +7 more
core +4 more sources
Journal of Cachexia, Sarcopenia and Muscle, 2022 Fibro‐adipogenic progenitors (FAPs) in the muscles have been found to interact closely with muscle progenitor/stem cells (MPCs) and facilitate muscle regeneration at normal conditions.
Lei Liu +12 more
semanticscholar +1 more source
SerpinE1 drives a cell-autonomous pathogenic signaling in Hutchinson–Gilford progeria syndrome
Cell Death and Disease, 2022 Hutchinson–Gilford progeria syndrome (HGPS) is a rare, fatal disease caused by Lamin A mutation, leading to altered nuclear architecture, loss of peripheral heterochromatin and deregulated gene expression.
Giorgia Catarinella +10 more
semanticscholar +1 more source