Detalhe da pesquisa
1.
The aberrant epigenome of DNMT3B-mutated ICF1 patient iPSCs is amenable to correction, with the exception of a subset of regions with H3K4me3- and/or CTCF-based epigenetic memory.
Genome Res
; 33(2): 169-183, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36828588
2.
Regulation of telomeric function by DNA methylation differs between humans and mice.
Hum Mol Genet
; 29(19): 3197-3210, 2020 11 25.
Artigo
Inglês
| MEDLINE | ID: mdl-32916696
3.
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.
J Hum Genet
; 66(11): 1101-1112, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-33980986
4.
Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.
Hum Mol Genet
; 27(20): 3568-3581, 2018 10 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30010917
5.
Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I.
Hum Mol Genet
; 26(21): 4244-4256, 2017 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28973513
6.
ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing.
Nucleic Acids Res
; 45(10): 5739-5756, 2017 Jun 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28334849
7.
MBTPS1 regulates proliferation of colorectal cancer primarily through its action on sterol regulatory element-binding proteins.
Front Oncol
; 12: 1004014, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36300096
8.
Epigenetic Characteristics of Human Subtelomeres Vary in Cells Utilizing the Alternative Lengthening of Telomeres (ALT) Pathway.
Life (Basel)
; 11(4)2021 Mar 26.
Artigo
Inglês
| MEDLINE | ID: mdl-33810393
9.
Human subtelomeric DNA methylation: regulation and roles in telomere function.
Curr Opin Genet Dev
; 60: 9-16, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32109830
10.
Persistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction.
Elife
; 82019 11 20.
Artigo
Inglês
| MEDLINE | ID: mdl-31738163
11.
DNA:RNA hybrids at telomeres - when it is better to be out of the (R) loop.
FEBS J
; 285(14): 2552-2566, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29637701
12.
Telomeres in ICF syndrome cells are vulnerable to DNA damage due to elevated DNA:RNA hybrids.
Nat Commun
; 8: 14015, 2017 01 24.
Artigo
Inglês
| MEDLINE | ID: mdl-28117327