Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-37334829
2.
TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure.
Nucleic Acids Res
; 50(W1): W744-W752, 2022 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35524567
3.
Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances.
Genes Dev
; 28(22): 2464-76, 2014 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25403178
4.
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Nucleic Acids Res
; 47(6): 2822-2839, 2019 04 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30698748
5.
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
Inglês
| MEDLINE | ID: mdl-31010831
6.
Regulation of the Human Telomerase Gene TERT by Telomere Position Effect-Over Long Distances (TPE-OLD): Implications for Aging and Cancer.
PLoS Biol
; 14(12): e2000016, 2016 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-27977688
7.
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
Inglês
| MEDLINE | ID: mdl-26359233
8.
Quantitative telomerase enzyme activity determination using droplet digital PCR with single cell resolution.
Nucleic Acids Res
; 42(13): e104, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24861623
9.
Non-canonical telomere protection role of FOXO3a of human skeletal muscle cells regulated by the TRF2-redox axis.
Commun Biol
; 6(1): 561, 2023 05 25.
Artigo
Inglês
| MEDLINE | ID: mdl-37231173
10.
Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging.
Life Sci Alliance
; 5(12)2022 09 14.
Artigo
Inglês
| MEDLINE | ID: mdl-36104080
11.
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells-derived innervated muscle fibres.
J Cachexia Sarcopenia Muscle
; 13(1): 621-635, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34859613
12.
miR-376a-3p and miR-376b-3p overexpression in Hutchinson-Gilford progeria fibroblasts inhibits cell proliferation and induces premature senescence.
iScience
; 25(2): 103757, 2022 Feb 18.
Artigo
Inglês
| MEDLINE | ID: mdl-35118365
13.
C-HiC: A High-Resolution Method for Unbiased Chromatin Conformation Capture Targeting Small Locus.
Methods Mol Biol
; 2157: 85-102, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-32820400
14.
AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome.
Biomedicines
; 9(7)2021 Jun 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34209568
15.
Short-Pulse Lasers: A Versatile Tool in Creating Novel Nano-/Micro-Structures and Compositional Analysis for Healthcare and Wellbeing Challenges.
Nanomaterials (Basel)
; 11(3)2021 Mar 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33809072
16.
Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells.
Cells
; 9(6)2020 06 23.
Artigo
Inglês
| MEDLINE | ID: mdl-32585982
17.
Mitochondrial function in skeletal myofibers is controlled by a TRF2-SIRT3 axis over lifetime.
Aging Cell
; 19(3): e13097, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31991048
18.
Bring It to an End: Does Telomeres Size Matter?
Cells
; 8(1)2019 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30626097
19.
Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.
Sci Rep
; 9(1): 10327, 2019 07 17.
Artigo
Inglês
| MEDLINE | ID: mdl-31316120
20.
NOVA1 directs PTBP1 to hTERT pre-mRNA and promotes telomerase activity in cancer cells.
Oncogene
; 38(16): 2937-2952, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30568224