Hutchinson-Gilford syndrome (progeria)
Indian Journal of Dermatology, 2009 Progeria is a rare, autosomal dominant, progeroid disorder. In the world literature less than 100 cases have been reported to date. We present this case because of its rarity.
Surjushe Amar +3 more
doaj
Alterations to nuclear architecture and genome behavior in senescent cells. [PDF]
, 2007 The organization of the genome within interphase nuclei, and how it interacts with nuclear structures is important for the regulation of nuclear functions.
Abney J.R. +52 more
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Concise Review: Plasma and Nuclear Membranes Convey Mechanical Information to Regulate Mesenchymal Stem Cell Lineage [PDF]
, 2016 Numerous factors including chemical, hormonal, spatial, and physical cues determine stem cell fate. While the regulation of stem cell differentiation by soluble factors is well-characterized, the role of mechanical force in the determination of lineage ...
Fuchs, Robyn K. +3 more
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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
Altered Nuclear Functions in Progeroid Syndromes: a Paradigm for Aging Research
The Scientific World Journal, 2009 Syndromes of accelerated aging could provide an entry point for identifying and dissecting the cellular pathways that are involved in the development of age-related pathologies in the general population.
Baomin Li +4 more
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The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers. [PDF]
, 2006 Hutchinson-Gilford progeria syndrome (HGPS) is a dominant autosomal premature aging syndrome caused by the expression of a truncated prelamin A designated progerin.
Buendia, Brigitte +5 more
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Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis
Annals of Pediatric Cardiology, 2011 Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging syndrome that results from mutation in the Laminin A gene. This case report of a 12-year-old girl with HGPS is presented for the rarity of the syndrome and the classical clinical ...
Natesh B Hanumanthappa +3 more
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Validation of modulated proteins due to progerin over-expression in Progeria Syndrome (HGPS) cell lines [PDF]
, 2015 El síndrome de la progeria de Hutchinson-Gilford (HGPS), una enfermedad de envejecimiento prematuro, se caracteriza por la sobreexpresión de una isoforma mutada de la lamina A, la progerina o lamina AΔ50.
Palla Pérez, Sandra
core +1 more source
Recherche de l'expression de la lamine A et de la progérine chez des patients avec un syndrome myélodysplasique/syndrome myéloprolifératif avec thrombocytose [PDF]
, 2012 Les syndromes myélodysplasiques (SMD) et myéloprolifératifs (SMP) sont des maladies qui touchent les cellules souches de la moelle hématopoïétique.
Wuthrich, H.
core
Stem Cell ResearchLamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy ...
Dandan Liu +6 more
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