Detalhe da pesquisa
1.
CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements.
Hum Genomics
; 16(1): 49, 2022 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36284357
2.
Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome.
Hum Mol Genet
; 29(16): 2723-2735, 2020 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32720677
3.
Transgenic Overexpression of Myocilin Leads to Variable Ocular Anterior Segment and Retinal Alterations Associated with Extracellular Matrix Abnormalities in Adult Zebrafish.
Int J Mol Sci
; 23(17)2022 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077382
4.
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.
Hum Genet
; 139(10): 1209-1231, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32274568
5.
Knockout of myoc Provides Evidence for the Role of Myocilin in Zebrafish Sex Determination Associated with Wnt Signalling Downregulation.
Biology (Basel)
; 10(2)2021 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33573230
6.
Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish.
Genes (Basel)
; 11(5)2020 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32422965
7.
Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma.
PLoS One
; 14(1): e0211029, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30657791
8.
Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.
Sci Rep
; 7: 46175, 2017 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28397860
9.
Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.
Acta Ophthalmol
; 94(7): e555-e560, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060699
10.
The Role of hsa-miR-548l Dysregulation as a Putative Modifier Factor for Glaucoma-Associated FOXC1 Mutations.
Microrna
; 4(1): 50-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25809640
11.
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.
Pediatr Neurol
; 112: 53-55, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32911264
12.
Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.
PLoS One
; 10(3): e0119272, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25786029