Detalhe da pesquisa
1.
Stabilization of chromatin topology safeguards genome integrity.
Nature
; 574(7779): 571-574, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31645724
2.
Genetic and functional insights into CDA-I prevalence and pathogenesis.
J Med Genet
; 58(3): 185-195, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32518175
3.
Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.
Haematologica
; 106(11): 2960-2970, 2021 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33121234
4.
ATR-16 syndrome: mechanisms linking monosomy to phenotype.
J Med Genet
; 57(6): 414-421, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32005695
5.
Intragenic enhancers act as alternative promoters.
Mol Cell
; 45(4): 447-58, 2012 Feb 24.
Artigo
Inglês
| MEDLINE | ID: mdl-22264824
6.
Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells.
Hum Mol Genet
; 24(12): 3457-71, 2015 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25814655
7.
Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level.
Br J Haematol
; 198(1): e10-e14, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35417566
8.
Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.
Rheumatology (Oxford)
; 59(2): 448-451, 2020 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31377798
9.
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
J Med Genet
; 51(11): 737-47, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25228304
10.
Sister chromatid cohesion is mediated by individual cohesin complexes.
Science
; 383(6687): 1122-1130, 2024 Mar 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38452070
11.
Global gene expression analysis of human erythroid progenitors.
Blood
; 117(13): e96-108, 2011 Mar 31.
Artigo
Inglês
| MEDLINE | ID: mdl-21270440
12.
Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.
Blood
; 117(25): 6928-38, 2011 Jun 23.
Artigo
Inglês
| MEDLINE | ID: mdl-21364188
13.
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.
Haematologica
; 98(9): 1383-7, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23716552
14.
RASER-FISH: non-denaturing fluorescence in situ hybridization for preservation of three-dimensional interphase chromatin structure.
Nat Protoc
; 17(5): 1306-1331, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35379945
15.
Heritable gene silencing in lymphocytes delays chromatid resolution without affecting the timing of DNA replication.
Nat Cell Biol
; 5(7): 668-74, 2003 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-12833066
16.
Coregulated human globin genes are frequently in spatial proximity when active.
J Cell Biol
; 172(2): 177-87, 2006 Jan 16.
Artigo
Inglês
| MEDLINE | ID: mdl-16418531
17.
High-resolution targeted 3C interrogation of cis-regulatory element organization at genome-wide scale.
Nat Commun
; 12(1): 531, 2021 01 22.
Artigo
Inglês
| MEDLINE | ID: mdl-33483495
18.
A Dynamic Folded Hairpin Conformation Is Associated with α-Globin Activation in Erythroid Cells.
Cell Rep
; 30(7): 2125-2135.e5, 2020 02 18.
Artigo
Inglês
| MEDLINE | ID: mdl-32075757
19.
Cohesin Disrupts Polycomb-Dependent Chromosome Interactions in Embryonic Stem Cells.
Cell Rep
; 30(3): 820-835.e10, 2020 01 21.
Artigo
Inglês
| MEDLINE | ID: mdl-31968256
20.
Dynamics of the 4D genome during in vivo lineage specification and differentiation.
Nat Commun
; 11(1): 2722, 2020 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32483172