Detalhe da pesquisa
1.
TRF2 and apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage.
Cell
; 142(2): 230-42, 2010 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20655466
2.
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Nucleic Acids Res
; 51(14): 7269-7287, 2023 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334829
3.
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Clin Genet
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685133
4.
A multi-objective genetic algorithm to find active modules in multiplex biological networks.
PLoS Comput Biol
; 17(8): e1009263, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34460810
5.
Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances.
Genes Dev
; 28(22): 2464-76, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25403178
6.
miR-140-5p and miR-140-3p: Key Actors in Aging-Related Diseases?
Int J Mol Sci
; 23(19)2022 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36232738
7.
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
Int J Mol Sci
; 23(22)2022 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430443
8.
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Nucleic Acids Res
; 47(6): 2822-2839, 2019 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30698748
9.
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
J Med Genet
; 56(9): 590-601, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31010831
10.
Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
Int J Mol Sci
; 21(6)2020 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32210100
11.
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
Int J Mol Sci
; 21(7)2020 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32290091
12.
SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy.
Genome Res
; 25(12): 1781-90, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26359233
13.
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Hum Mutat
; 38(10): 1432-1441, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28744936
14.
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.
Hum Mol Genet
; 23(1): 171-81, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23966205
15.
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
BMC Med Genet
; 17(1): 66, 2016 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27634379
16.
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.
Ann Neurol
; 78(3): 387-400, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26018399
17.
Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression.
Blood
; 123(13): 2116-26, 2014 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24518759
18.
Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.
PLoS Genet
; 9(6): e1003550, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23785297
19.
Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.
Hum Mutat
; 36(4): 443-53, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25615407
20.
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
Hum Mol Genet
; 22(20): 4206-14, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23777630