Detalhe da pesquisa
1.
A Mettl16/m6A/mybl2b/Igf2bp1 axis ensures cell cycle progression of embryonic hematopoietic stem and progenitor cells.
EMBO J
; 43(10): 1990-2014, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605226
2.
Rod genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor composition and progressive retinal degeneration.
PLoS Genet
; 18(3): e1009841, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35245286
3.
Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing.
Nucleic Acids Res
; 49(4): 2027-2043, 2021 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33476374
4.
BCAS2 is essential for hematopoietic stem and progenitor cell maintenance during zebrafish embryogenesis.
Blood
; 133(8): 805-815, 2019 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30482793
5.
Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration.
J Biol Chem
; 294(38): 13953-13963, 2019 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31362982
6.
A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome.
Mol Vis
; 26: 670-678, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33088171
7.
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
J Biol Chem
; 292(15): 6225-6239, 2017 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28209709
8.
Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy.
Hum Genet
; 137(10): 779-794, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30242501
9.
Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish.
Hum Mol Genet
; 24(16): 4648-59, 2015 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26034134
10.
Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Mol Vis
; 22: 234-42, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27081294
11.
Reply to Corbeil et al.: Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration.
J Biol Chem
; 294(45): 17167, 2019 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31704775
12.
Evaluating ClinGen variant curation expert panels' application of PVS1 code.
Eur J Med Genet
; 67: 104909, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38199457
13.
Retinal degeneration in rpgra mutant zebrafish.
Front Cell Dev Biol
; 11: 1169941, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37351277
14.
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.
BMC Med Genomics
; 16(1): 262, 2023 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37880672
15.
Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies.
Front Genet
; 14: 1170720, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37693318
16.
Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis.
Clin Biochem
; 113: 64-69, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36610469
17.
A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family.
Front Genet
; 13: 1046096, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36386852
18.
[Report of a pedigree affected with congenital heart disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(6): 890, 2016 Dec 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-27984630
19.
Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking.
Biochim Biophys Acta Mol Basis Dis
; 1865(10): 2694-2705, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31348989
20.
CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1.
Autophagy
; 15(3): 453-465, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30205735