Detalhe da pesquisa
1.
LXRα Promotes Abdominal Aortic Aneurysm Formation Through UHRF1 Epigenetic Modification of miR-26b-3p.
Circulation
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38557060
2.
A natural DNMT1 mutation elevates the fetal hemoglobin level via epigenetic derepression of the γ-globin gene in ß-thalassemia.
Blood
; 137(12): 1652-1657, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33227819
3.
Putative regulators for the continuum of erythroid differentiation revealed by single-cell transcriptome of human BM and UCB cells.
Proc Natl Acad Sci U S A
; 117(23): 12868-12876, 2020 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32457162
4.
Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
Brain
; 142(8): 2215-2229, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31199454
5.
Characterization of a Novel 71.8 kb α0-Thalassemia Deletion and Subsequent Summary of a Practical Procedure for Thalassemia Molecular Diagnosis.
Hemoglobin
; 44(4): 259-263, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32646243
6.
LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.
Hum Mutat
; 40(12): 2221-2229, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31286593
7.
Thalassaemia intermedia caused by coinheritance of a ß-thalassaemia mutation and a de novo duplication of α-globin genes in the paternal allele.
Br J Haematol
; 186(4): 620-624, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31124576
8.
Analysis of variants in upstream open reading frames of human globin-related genes.
Yi Chuan
; 39(3): 232-240, 2017 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28420619
9.
Characterizing the cellular and molecular variabilities of peripheral immune cells in healthy recipients of BBIBP-CorV inactivated SARS-CoV-2 vaccine by single-cell RNA sequencing.
Emerg Microbes Infect
; 12(1): e2187245, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987861
10.
Use of SuperCT for Enhanced Characterization of Single-Cell Transcriptomic Profiles.
Methods Mol Biol
; 2117: 169-177, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31960378
11.
A novel 223 kb deletion in the beta-globin gene cluster was identified in a Chinese thalassemia major patient.
Int J Lab Hematol
; 41(4): 456-460, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30945812
12.
A combination of the (αα)GZ and --SEA deletions causing a severe form of hemoglobin H disease.
Int J Lab Hematol
; 42(2): e80-e83, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31756043