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.
Transforming growth factor beta-induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients.
Clin Exp Ophthalmol
; 47(7): 871-880, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31056827
5.
Molecular and neurochemical substrates of the audiogenic seizure strains: The GASH:Sal model.
Epilepsy Behav
; 71(Pt B): 218-225, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26071997
6.
LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients.
BMC Med Genet
; 16: 72, 2015 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-26319397
7.
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.
Ophthalmic Genet
; : 1-4, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38450436
8.
Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.
Ophthalmology
; 120(4): 716-23, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23218183
9.
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
10.
Role of CYP1B1 gene polymorphisms in bladder cancer susceptibility.
J Urol
; 187(2): 700-6, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22177211
11.
RNA and protein expression analysis of HLA-DQB1*03:01:01:21Q allele: A null allele renamed as HLA-DQB1*03:01:01:21N.
HLA
; 99(3): 160-166, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997833
12.
Polymorphic deletions of the GSTT1 and GSTM1 genes and susceptibility to bladder cancer.
BJU Int
; 107(11): 1825-32, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20942828
13.
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
14.
Pigment epithelium-derived factor is a niche signal for neural stem cell renewal.
Nat Neurosci
; 9(3): 331-9, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16491078
15.
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
16.
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.
Mol Vis
; 15: 417-31, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19234632
17.
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
18.
Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin.
Mol Vis
; 14: 2097-108, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19023451
19.
New perspectives in aqueous humor secretion and in glaucoma: the ciliary body as a multifunctional neuroendocrine gland.
Prog Retin Eye Res
; 26(3): 239-62, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17321191
20.
Implications of mismatch repair genes hMLH1 and hMSH2 in patients with sporadic renal cell carcinoma.
BJU Int
; 102(4): 504-9, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18325052