Detalhe da pesquisa
1.
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Am J Med Genet A
; 191(9): 2274-2289, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37387251
2.
Random walk with restart on multiplex and heterogeneous biological networks.
Bioinformatics
; 35(3): 497-505, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30020411
3.
WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.
Semin Cell Dev Biol
; 2014 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-24685615
4.
Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.
Semin Cell Dev Biol
; 29: 125-47, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24662892
5.
A conserved splicing mechanism of the LMNA gene controls premature aging.
Hum Mol Genet
; 20(23): 4540-55, 2011 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21875900
6.
Absence of T and B lymphocytes modulates dystrophic features in dysferlin deficient animal model.
Exp Cell Res
; 318(10): 1160-74, 2012 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22465227
7.
An inherited LMNA gene mutation in atypical Progeria syndrome.
Am J Med Genet A
; 158A(11): 2881-7, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22991222
8.
Heterozygous expression of Cre recombinase in podocytes has no impact on the anti-glomerular basement membrane glomerulonephritis model in C57BL/6J mice.
Physiol Rep
; 10(17): e15443, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36082952
9.
Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13.
Nat Commun
; 11(1): 4110, 2020 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32807790
10.
HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches.
Mech Ageing Dev
; 129(7-8): 449-59, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18513784
11.
[A-type lamins and progeroïd syndromes : persistent farnesylation with dramatic effects]. / Lamines A et syndromes progéroïdes : une farnésylation persistante aux conséquences dramatiques.
Med Sci (Paris)
; 24(10): 833-40, 2008 Oct.
Artigo
em Francês
| MEDLINE | ID: mdl-18950579
12.
Substrate Topography Modulates Cell Aging on a Progeria Cell Model.
ACS Biomater Sci Eng
; 4(5): 1498-1504, 2018 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33445307
13.
[miR-9: the sentinel of neurons in progeria]. / miR-9 : la sentinelle des neurones dans la progéria.
Med Sci (Paris)
; 28(6-7): 663-6, 2012.
Artigo
em Francês
| MEDLINE | ID: mdl-22805145
14.
MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation.
EMBO Mol Med
; 9(9): 1294-1313, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28674081
15.
Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells.
Cells
; 5(3)2016 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27409638
16.
Metformin decreases progerin expression and alleviates pathological defects of Hutchinson-Gilford progeria syndrome cells.
NPJ Aging Mech Dis
; 2: 16026, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28721276
17.
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Eur J Hum Genet
; 23(8): 1051-61, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25649378
18.
Induced pluripotent stem cells reveal functional differences between drugs currently investigated in patients with hutchinson-gilford progeria syndrome.
Stem Cells Transl Med
; 3(4): 510-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24598781
19.
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
Eur J Hum Genet
; 22(8): 1002-11, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24169522
20.
Full-length dysferlin expression driven by engineered human dystrophic blood derived CD133+ stem cells.
FEBS J
; 280(23): 6045-60, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24028392