Detalhe da pesquisa
1.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33508234
2.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet
; 107(4): 727-742, 2020 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32891193
3.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
J Am Soc Nephrol
; 32(3): 580-596, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33593823
4.
Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout.
Kidney Int
; 95(5): 1079-1090, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31010479
5.
Generation and application of endogenously floxed alleles for cell-specific knockout in zebrafish.
Dev Cell
; 58(22): 2614-2626.e7, 2023 Nov 20.
Artigo
Inglês
| MEDLINE | ID: mdl-37633272
6.
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
Sci Adv
; 7(1)2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33523862
7.
Effects of Diet and Social Housing on Reproductive Success in Adult Zebrafish, Danio rerio.
Zebrafish
; 15(5): 445-453, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30102583
8.
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model.
PLoS One
; 13(1): e0191503, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29346415
9.
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
J Clin Invest
; 128(10): 4313-4328, 2018 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30179222