First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype
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Mutation of SALL2 causes recessive ocular coloboma in humans and miceVitamin A Transport Mechanism of the Multitransmembrane Cell-Surface Receptor STRA6STRA6: role in cellular retinol uptake and effluxRetina, retinol, retinal and the natural history of vitamin A as a light sensorBiochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye DiseaseHeterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsChemistry and biology of the initial steps in vision: the Friedenwald lecture.A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.STRA6 is critical for cellular vitamin A uptake and homeostasis.Genes and signaling networks regulated during zebrafish optic vesicle morphogenesisTo investigate the necessity of STRA6 upregulation in T cells during T cell immune responses.Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataractsProduction of functional human vitamin A transporter/RBP receptor (STRA6) for structure determination.Membrane receptors and transporters involved in the function and transport of vitamin A and its derivatives.De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.Genetic Advances in Microphthalmia.Transport of vitamin A across blood-tissue barriers is facilitated by STRA6.Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.Retinoic Acid Maintains Function of Neural Crest-Derived Ocular and Craniofacial Structures in Adult Zebrafish.
P2860
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P2860
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype
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2011 nî lūn-bûn
@nan
2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年論文
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2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
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name
First implication of STRA6 mut ...... mension to the STRA6 phenotype
@ast
First implication of STRA6 mut ...... mension to the STRA6 phenotype
@en
First implication of STRA6 mut ...... mension to the STRA6 phenotype
@nl
type
label
First implication of STRA6 mut ...... mension to the STRA6 phenotype
@ast
First implication of STRA6 mut ...... mension to the STRA6 phenotype
@en
First implication of STRA6 mut ...... mension to the STRA6 phenotype
@nl
prefLabel
First implication of STRA6 mut ...... mension to the STRA6 phenotype
@ast
First implication of STRA6 mut ...... mension to the STRA6 phenotype
@en
First implication of STRA6 mut ...... mension to the STRA6 phenotype
@nl
P2093
P2860
P50
P356
P1433
P1476
First implication of STRA6 mut ...... mension to the STRA6 phenotype
@en
P2093
Jillian Casey
Judith Conroy
Muireann Ní Chróinín
Paul Cormican
Peter Tormey
Regina Regan
Riki Kawaguchi
SallyAnn Lynch
P2860
P304
P356
10.1002/HUMU.21590
P407
P50
P577
2011-09-29T00:00:00Z