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CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix
TLDR
The notion that CPAMD8 loss-of-function underlies a spectrum of recessive CG-ASD phenotypes associated with extracellular matrix disorganization is supported and new insights are provided into the normal and disease roles of this gene.
Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish
TLDR
Evidence is provided for the role of GUCA1C as a candidate gene in PCG and new insights are offered into the function of this gene in the ocular anterior segment and the retina.
Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma
TLDR
The increased frequency in PCG patients of rare FOXC2 and PITX2 variants with mild functional alterations, suggests they play a role as putative modifier factors in this disease further supporting that CG is not a simple monogenic disease and provides novel insights into the complex pathological mechanisms that underlie CG.
Null cyp1b1 Activity in Zebrafish Leads to Variable Craniofacial Defects Associated with Altered Expression of Extracellular Matrix and Lipid Metabolism Genes
TLDR
Evidence is provided for the complexity of the phenotypes and molecular pathways associated with cyp1b1 LoF, and for the dysregulation of extracellular matrix gene expression as one of the mechanisms underlying the pathogenicity associated with Cyp1B1 disruption.
Knockout of myoc Provides Evidence for the Role of Myocilin in Zebrafish Sex Determination Associated with Wnt Signalling Downregulation
TLDR
It is shown that myocilin is required for ovary differentiation in zebrafish and provides in vivo support for the role of myOCilin as a Wnt signalling pathway modulator.
Knockout of myoc reveals the role of myocilin in zebrafish sex determination associated with Wnt signalling downregulation
TLDR
Results show that myocilin is required for ovary differentiation in zebrafish and provide in vivo support for the role of myOCilin as a Wnt signalling pathway modulator.
Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish
TLDR
Evidence is provided for the role of GUCA1C as a candidate gene in PCG and new insights are offered into the function of this gene in the ocular anterior segment and the retina.
Null cyp1b1 Activity in Zebrafish Leads to Variable Craniofacial Defects Associated with Altered Expression of Extracellular Matrix and Lipid Metabolism Genes
CYP1B1 loss of function (LoF) is the main known genetic alteration present in recessive primary congenital glaucoma (PCG), an infrequent disease characterized by delayed embryonic development of the