Fraying at the edge: mouse models of diseases resulting from defects at the nuclear periphery

TV Cohen, CL Stewart - Current topics in developmental biology, 2008 - Elsevier
Eukaryotic cells compartmentalize their genetic material within the nucleus. The boundary
separating the genetic material from the cytoplasm is the nuclear envelope (NE) and lamina …

The role of the farnesyltransferase inhibitor lonafarnib in the treatment of Progeria

MW Kieran, LB Gordon… - Expert Opinion on Orphan …, 2014 - Taylor & Francis
Introduction: Hutchinson–Gilford progeria syndrome (Progeria) is a rare autosomal dominant
premature aging disease caused by the generation of progerin, a farnesylated, disease …

A Growth-Restricted Neonate with Abnormal Facies and Lax Skin

S Jyothi, RR Prashanth, S Nair… - NeoReviews, 2024 - publications.aap.org
DISCUSSION The Condition HGPS is a rare fatal sporadic autosomal dominant
laminopathy, with no ethnic predisposition. The prevalence has been estimated as 1 in 20 …

The Progeria Research Foundation: its remarkable journey from obscurity to treatment

A Gordon, L Gordon - Expert Opinion on Orphan Drugs, 2014 - Taylor & Francis
Introduction: Hutchinson–Gilford progeria syndrome (Progeria) is an ultra-rare premature
aging syndrome that affects children worldwide and causes death at an average age of 14.6 …

Hip pathology in Hutchinson–Gilford progeria syndrome: a report of two children

P Akhbari, S Jha, KD James, BL Hinves… - Journal of Pediatric …, 2012 - journals.lww.com
Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder. The estimated
incidence is one in 4 million births. Orthopaedic manifestations include abnormality of the …

Hutchinsonův-Gilfordův syndrom

M Jurkovičová - 2023 - dk.upce.cz
Hutchinsonův-Gilfordův syndrom patří do skupiny onemocnění nazývající se progerie. Jedná
se o syndrom předčasného stárnutí, způsobený mutací genu pro lamin A, tzv. laminopatii …

[引用][C] 核层蛋白A 前体的法尼基化与衰老

袁源, 陈维春, 刘新光, 周中军 - 生命的化学, 2011

[PDF][PDF] MASTERʼS THESIS

SM Hüller - 2024 - epub.technikum-wien.at
This master thesis delves into the crucial role of lamin A, an important intermediate type V
protein for cellular structural integrity with influence on gene expression regulation and …

Investigation of Progerin Expression in Non-Hutchinson-Gilford Progeria Syndrome Individuals

R Yu - 2023 - search.proquest.com
Abstract Hutchinson-Gilford Progerin Syndrome (HGPS) is a premature aging disease
caused by a point mutation in the LMNA gene, which encodes A-type lamins. This mutation …

Treatment considerations in Hutchinson-Gilford progeria syndrome: a case report

H Hazan-Molina, AD Dror - Journal of Clinical Pediatric …, 2015 - meridian.allenpress.com
Hutchinson-Guilford progeria syndrome is an extremely rare condition classified as one of
the premature ageing syndromes. This case presents a 16-year-old Israeli female patient …