Detalhe da pesquisa
1.
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
2.
Null cyp1b1 Activity in Zebrafish Leads to Variable Craniofacial Defects Associated with Altered Expression of Extracellular Matrix and Lipid Metabolism Genes.
Int J Mol Sci
; 22(12)2021 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34208498
3.
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
4.
Seizures regulate the cation-Cl- cotransporter NKCC1 in a hamster model of epilepsy: implications for GABA neurotransmission.
Front Neurol
; 14: 1207616, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37448751
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.
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
8.
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