Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

2014/01/23 by Kathleen A. Williamson, Kathleen A. Williamson, Joe Rainger +25 · 28 citations
Biochemistry, Genetics and Molecular Biology · #Hippo pathway signaling and YAP/TAZ

paper · pdf · doi:10.1016/j.ajhg.2014.01.001

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• An update on the genetics of ocular coloboma
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• Yap is essential for retinal progenitor cell cycle progression and RPE cell fate acquisition in the developing mouse eye. [europepmc]
• The hyaloid vasculature facilitates basement membrane breakdown during choroid fissure closure in the zebrafish eye. [europepmc]
• The Hippo pathway in organ development, homeostasis, and regeneration. [europepmc]
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• Hippo-yap signaling in ocular development and disease. [europepmc]
• Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. [europepmc]
• Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion. [europepmc]
• The Hippo Signaling Pathway in Development and Disease. [europepmc]
• The Molecular Basis of Human Anophthalmia and Microphthalmia. [europepmc]
• Safety Considerations in the Development of Hippo Pathway Inhibitors in Cancers. [europepmc]
• Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. [europepmc]
• Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. [europepmc]
• Cleft lip and cleft palate in Esrp1 knockout mice is associated with alterations in epithelial-mesenchymal crosstalk. [europepmc]
• Control of skeletal morphogenesis by the Hippo-YAP/TAZ pathway. [europepmc]
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• Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases. [europepmc]