Pages that link to "Q28306581"

The following pages link to Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects (Q28306581):

Displaying 40 items.

• Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations (Q24298949) (← links)
• Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology (Q26714036) (← links)
• Yap and Taz regulate retinal pigment epithelial cell fate (Q27345171) (← links)
• Hippo Pathway in Organ Size Control, Tissue Homeostasis, and Cancer (Q28269498) (← links)
• Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts (Q35125578) (← links)
• EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model (Q35805964) (← links)
• Yap and Taz play a crucial role in neural crest-derived craniofacial development. (Q36597405) (← links)
• A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma (Q36676827) (← links)
• The Hippo effector TAZ (WWTR1) transforms myoblasts and TAZ abundance is associated with reduced survival in embryonal rhabdomyosarcoma. (Q37199465) (← links)
• Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. (Q37320277) (← links)
• The mammalian Hippo pathway: regulation and function of YAP1 and TAZ. (Q38255378) (← links)
• Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma (Q38517281) (← links)
• Retinal Degeneration Triggers the Activation of YAP/TEAD in Reactive Müller Cells. (Q38849795) (← links)
• Genetic Advances in Microphthalmia (Q39023010) (← links)
• The hyaloid vasculature facilitates basement membrane breakdown during choroid fissure closure in the zebrafish eye. (Q39383518) (← links)
• Hippo Pathway: An Emerging Regulator of Craniofacial and Dental Development (Q39430587) (← links)
• Extraintestinal manifestations of celiac disease: 33-mer gliadin binding to glutamate receptor GRINA as a new explanation (Q39909904) (← links)
• A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma (Q41066748) (← links)
• New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders. (Q41367838) (← links)
• Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas (Q46111477) (← links)
• The Hippo pathway in organ development, homeostasis, and regeneration. (Q50116622) (← links)
• Yap is essential for retinal progenitor cell cycle progression and RPE cell fate acquisition in the developing mouse eye. (Q50355726) (← links)
• Alternative Splicing in the Hippo Pathway-Implications for Disease and Potential Therapeutic Targets (Q52658016) (← links)
• WW domain-binding protein 2 acts as an oncogene by modulating the activity of the glycolytic enzyme ENO1 in glioma (Q52678274) (← links)
• Hippo-yap signaling in ocular development and disease. (Q52726945) (← links)
• Dynamic Tissue Rearrangements during Vertebrate Eye Morphogenesis: Insights from Fish Models. (Q55113517) (← links)
• uveal coloboma-cleft lip and palate-intellectual disability (Q55780435) (← links)
• Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia (Q58095416) (← links)
• Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly (Q64104510) (← links)
• Ocular phenotypic consequences of a single copy deletion of the gene () in mice (Q64262219) (← links)
• Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion (Q83232103) (← links)
• Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes (Q89595747) (← links)
• Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction (Q91174452) (← links)
• Developmental Deformity Due to scalloped Non-Function in Drosophila Brain Leads to Cognitive Impairment (Q91195180) (← links)
• High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma (Q91802218) (← links)
• The Molecular Basis of Human Anophthalmia and Microphthalmia (Q92642653) (← links)
• Looking to the future of zebrafish as a model to understand the genetic basis of eye disease (Q92679240) (← links)
• Safety Considerations in the Development of Hippo Pathway Inhibitors in Cancers (Q93048620) (← links)
• Yap haploinsufficiency leads to Müller cell dysfunction and late-onset cone dystrophy (Q98499814) (← links)
• Neuronal Hippo Signaling: From Development to Diseases (Q104069878) (← links)