Results 51 to 60 of about 2,390 (199)

Epithelial stem cells In Hutchinson-Gilford progeria syndrome [PDF]

, 2015
Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD) are two rare genetic disorders that affect children. Complications from cardiovascular disease, including atherosclerosis, are the most common cause of death in HGPS, which ...
McKenna, Tomás
core   +1 more source

Mouse models of laminopathies

Aging Cell, 2012
AbstractThe A‐ and B‐type lamins are nuclear intermediate filament proteins in eukaryotic cells with a broad range of functions, including the organization of nuclear architecture and interaction with proteins in many cellular functions. Over 180 disease‐causing mutations, termed ‘laminopathies,’ have been mapped throughout LMNA, the gene for A‐type ...
Haoyue, Zhang, Julia E, Kieckhaefer, Kan, Cao   +2 more
openaire   +2 more sources

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

Cells, 2016
ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral Dysplasia (MAD).
Damien Galant, Bénédicte Gaborit, Camille Desgrouas, Ines Abdesselam, Monique Bernard, Nicolas Levy, Françoise Merono, Catherine Coirault, Patrice Roll, Arnaud Lagarde, Nathalie Bonello-Palot, Patrice Bourgeois, Anne Dutour, Catherine Badens   +13 more
doaj   +1 more source

Inhibition of DNA damage response at telomeres improves the detrimental phenotypes of Hutchinson–Gilford Progeria Syndrome [PDF]

, 2019
Hutchinson–Gilford progeria syndrome (HGPS) is a genetic disorder characterized by premature aging features. Cells from HGPS patients express progerin, a truncated form of Lamin A, which perturbs cellular homeostasis leading to nuclear shape alterations,
Aguado J., Cancila V., d'Adda di Fagagna F., Dreesen O., Eriksson M., Jones-Weinert C. W., Lattanzi G., Ong P. F., Revechon G., Rossiello F., Sola-Carvajal A., Tripodo C., Wallen Arzt E.   +12 more
core   +1 more source

Myogenic Precursors from iPS Cells for Skeletal Muscle Cell Replacement Therapy. [PDF]

, 2015
The use of adult myogenic stem cells as a cell therapy for skeletal muscle regeneration has been attempted for decades, with only moderate success. Myogenic progenitors (MP) made from induced pluripotent stem cells (iPSCs) are promising candidates for ...
Alvarez Palomo, Ana Belen, Edel, Michael John, Requena Osete, Jordi, Roca, Isart   +3 more
core   +3 more sources

Dynamic expression of lamin B1 during adult neurogenesis in the vertebrate brain

Developmental Dynamics, Volume 255, Issue 2, Page 187-208, February 2026.
Abstract Background In mammals, specific brain regions such as the dentate gyrus (DG) of the hippocampus and the subventricular zone (SVZ) of the lateral ventricles harbor adult neural stem/progenitor cells (ANSPCs) that give rise to new neurons and contribute to structural and functional brain plasticity.
Diana Zhilina, Lizbeth A. Bolaños Castro, Juan Sebastian Eguiguren, Sara Zocher, Anne Karasinsky, Dimitri Widmer, Alexandre Espinós, Victor Borrell, Michael Brand, Kyoko Miura, Oliver Zierau, Maximina H. Yun, Tomohisa Toda   +12 more
wiley   +1 more source

Progeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran [PDF]

Journal of Kerman University of Medical Sciences, 2005
Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness.
Y Shafeghati, N Levy, G.M Martin
doaj  

Les lipodystrophies secondaires aux traitements antirétroviraux de l’infection par le VIH [PDF]

, 2006
Les traitements antirétroviraux de l’infection par le VIH sont responsables d’effets secondaires parfois sévères qui touchent en priorité le tissu adipeux, modifiant sa localisation (lipodystrophie avec lipoatrophie périphérique et hypertrophie centrale)
Bastard, Jean-Philippe, Capeau, Jacqueline, Caron, Martine, Cervera, Pascale, Kim, Minji, Lagathu, Claire, Maachi, Mustapha, Vigouroux, Corinne   +7 more
core   +2 more sources

Disruption of Nuclear‐Cytoskeletal Linkage by Coil‐1a LMNA Mutations in Emery–Dreifuss Muscular Dystrophy

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Emery–Dreifuss muscular dystrophy (EDMD) is a progressive genetic myopathy that mainly affects the muscles used for movement (skeletal muscles) and the heart (cardiac muscles). The disease is frequently associated with mutations in genes encoding nuclear envelope proteins, most notably LMNA, which encodes lamin A—a critical ...
So‐mi Kang, Ran Kim, Tae‐Gyun Woo, Soyoung Park, Yeongseon Ji, Ha Eun Kim, Yu Jin Jeong, Jeongmo Kim, Yeonhee Kim, Woochul Chang, Bae‐Hoon Kim, Bum‐Joon Park   +11 more
wiley   +1 more source

Hutchinson Gilford Progeria Syndrome: A Therapeutic Approach via Adenoviral Delivery of CRISPR/cas Genome Editing System [PDF]

, 2014
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare human genetic disease caused by mutations in the LMNA gene. LMNA codes for structural components of the nuclear lamina. Alterations of nuclear lamina lead to a very variable class of diseases known as
ARANCIO, Walter, Genovese, SI, GIORDANO, Carla, PIZZOLANTI, Giuseppe   +3 more
core   +1 more source