Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects
about
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsGenome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial MorphologyYap and Taz regulate retinal pigment epithelial cell fateHippo Pathway in Organ Size Control, Tissue Homeostasis, and CancerMutations in MAB21L2 result in ocular Coloboma, microcornea and cataractsEFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.Yap and Taz play a crucial role in neural crest-derived craniofacial development.A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.The Hippo effector TAZ (WWTR1) transforms myoblasts and TAZ abundance is associated with reduced survival in embryonal rhabdomyosarcoma.Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.The mammalian Hippo pathway: regulation and function of YAP1 and TAZ.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Retinal Degeneration Triggers the Activation of YAP/TEAD in Reactive Müller Cells.Genetic Advances in Microphthalmia.The hyaloid vasculature facilitates basement membrane breakdown during choroid fissure closure in the zebrafish eye.Hippo Pathway: An Emerging Regulator of Craniofacial and Dental Development.Extraintestinal manifestations of celiac disease: 33-mer gliadin binding to glutamate receptor GRINA as a new explanation.A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas.Yap is essential for retinal progenitor cell cycle progression and RPE cell fate acquisition in the developing mouse eye.Alternative Splicing in the Hippo Pathway-Implications for Disease and Potential Therapeutic Targets.WW domain-binding protein 2 acts as an oncogene by modulating the activity of the glycolytic enzyme ENO1 in glioma.Hippo-yap signaling in ocular development and disease.Dynamic Tissue Rearrangements during Vertebrate Eye Morphogenesis: Insights from Fish Models.
P2860
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P2860
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects
description
2014 nî lūn-bûn
@nan
2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Heterozygous loss-of-function ...... optic fissure closure defects
@ast
Heterozygous loss-of-function ...... optic fissure closure defects
@en
Heterozygous loss-of-function ...... optic fissure closure defects
@nl
type
label
Heterozygous loss-of-function ...... optic fissure closure defects
@ast
Heterozygous loss-of-function ...... optic fissure closure defects
@en
Heterozygous loss-of-function ...... optic fissure closure defects
@nl
prefLabel
Heterozygous loss-of-function ...... optic fissure closure defects
@ast
Heterozygous loss-of-function ...... optic fissure closure defects
@en
Heterozygous loss-of-function ...... optic fissure closure defects
@nl
P2093
P2860
P50
P3181
P1476
Heterozygous loss-of-function ...... optic fissure closure defects
@en
P2093
Alison Meynert
Angus Clarke
Anthony T Moore
Jacqueline K Rainger
James A B Floyd
Joe Rainger
Kathleen A Williamson
Kishan V Aldridge
Matthew E Hurles
Morad Ansari
P2860
P304
P3181
P356
10.1016/J.AJHG.2014.01.001
P407
P50
P577
2014-02-06T00:00:00Z