Detalhe da pesquisa
1.
A robust pipeline for efficient knock-in of point mutations and epitope tags in zebrafish using fluorescent PCR based screening.
BMC Genomics
; 23(1): 810, 2022 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36476416
2.
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Hum Mol Genet
; 29(13): 2109-2123, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32186706
3.
Hospital Prices for Physician-Administered Drugs.
N Engl J Med
; 390(14): 1347, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38598814
4.
Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility.
Respir Res
; 23(1): 167, 2022 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35739508
5.
Zrsr2 Is Essential for the Embryonic Development and Splicing of Minor Introns in RNA and Protein Processing Genes in Zebrafish.
Int J Mol Sci
; 23(18)2022 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142581
6.
Splicing factor DHX15 affects tp53 and mdm2 expression via alternate splicing and promoter usage.
Hum Mol Genet
; 28(24): 4173-4185, 2019 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691804
7.
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
J Neurogenet
; 35(2): 74-83, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970744
8.
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility.
PLoS Genet
; 14(12): e1007821, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30540754
9.
Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes.
Hum Mutat
; 41(12): 2105-2118, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906187
10.
Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.
Hum Mutat
; 41(12): 2155-2166, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939873
11.
ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.
PLoS Genet
; 13(2): e1006481, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158191
12.
Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.
PLoS Genet
; 13(2): e1006624, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28241013
13.
Role of RUNX1 in hematological malignancies.
Blood
; 129(15): 2070-2082, 2017 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28179279
14.
High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9.
Genome Res
; 25(7): 1030-42, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26048245
15.
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Ann Rheum Dis
; 77(4): 612-619, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29358286
16.
CRISPRz: a database of zebrafish validated sgRNAs.
Nucleic Acids Res
; 44(D1): D822-6, 2016 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26438539
17.
A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element.
Am J Med Genet A
; 173(11): 2893-2897, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28985029
18.
CRISPR-STAT: an easy and reliable PCR-based method to evaluate target-specific sgRNA activity.
Nucleic Acids Res
; 43(22): e157, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26253739
19.
Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL.
Hum Mol Genet
; 23(16): 4260-71, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24691551
20.
A congenital neutrophil defect syndrome associated with mutations in VPS45.
N Engl J Med
; 369(1): 54-65, 2013 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23738510