Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
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AG03258AG03259AG03260AG03262AG03263AG03342AG03343AG03344AG03345AG03346AG03504AG03505AG03506AG03507AG03508AG06297AG06298AG06299AG06917AG10548AG10578AG10579AG10585AG10587AG10588AG10677AG10801AG11498AG11513GM01972HGADFN001HGADFN003HGADFN005HGADFN008HGADFN014HGALBV009HGALBV011HGALBV057HGALBV071HGFLBV021
P1343
The cell nucleus and aging: tantalizing clues and hopeful promisesGenetic variation in healthy oldest-oldThe mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skinMolecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a modelDermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stressThe nuclear envelopathies and human diseasesEnvironmental health research in the post-genome era: new fields, new challenges, and new opportunitiesMammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processesLoss of a DNA binding site within the tail of prelamin A contributes to altered heterochromatin anchorage by progerinA-type lamins maintain the positional stability of DNA damage repair foci in mammalian nucleiInhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndromeAge-related changes of nuclear architecture in Caenorhabditis elegansReversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndromeHutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody.The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomicsHomozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndromeProgeria: a rare genetic premature ageing disorderLamin B1 is required for mouse development and nuclear integrityTargeting protein prenylation in progeriaTrue lies: the double life of the nucleotide excision repair factors in transcription and DNA repairPhenotype and course of Hutchinson-Gilford progeria syndromeHuman ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severityNeurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatmentEpigenetic alterations in agingExome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndromeA novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndromeBlocking protein farnesylation improves nuclear shape abnormalities in keratinocytes of mice expressing the prelamin A variant in Hutchinson-Gilford progeria syndromeThe epidemiology of premature aging and associated comorbiditiesProgerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblastsModel of human aging: recent findings on Werner's and Hutchinson-Gilford progeria syndromesLamin A-dependent misregulation of adult stem cells associated with accelerated ageingA farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse modelA carboxyl-terminal interaction of lamin B1 is dependent on the CAAX endoprotease Rce1 and carboxymethylationTwo faces of p53: aging and tumor suppressionLamin A-dependent nuclear defects in human agingAltered protein dynamics of disease-associated lamin A mutantsExpression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutationAging syndrome genes and premature coronary artery diseaseMechanisms of aging in senescence-accelerated mice
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P2860
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
description
2003 nî lūn-bûn
@nan
2003 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
@ast
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
@en
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
@nl
type
label
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
@ast
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
@en
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
@nl
prefLabel
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
@ast
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
@en
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
@nl
P2093
P2860
P4510
P3181
P356
P1433
P1476
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
@en
P2093
Amalia Dutra
Antonei B Csoka
Christiane M Robbins
Evgenia Pak
Joel Singer
Laura Scott
Leslie B Gordon
Maria Eriksson
Michael R Erdos
Michael W Glynn
P2860
P2888
P3181
P356
10.1038/NATURE01629
P407
P577
2003-05-15T00:00:00Z
P5875
P6179
1051533206