Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
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Genomic analysis of mouse retinal developmentAnophthalmia and microphthalmiaMutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationHomozygous null mutation in ODZ3 causes microphthalmia in humansFOXE3 plays a significant role in autosomal recessive microphthalmiaMutational screening of 10 genes in Chinese patients with microphthalmia and/or colobomaCommon MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopiaGDF6, a novel locus for a spectrum of ocular developmental anomaliesThe third helix of the homeodomain of paired class homeodomain proteins acts as a recognition helix both for DNA and protein interactionsThe DNA sequence and analysis of human chromosome 14Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from QatarFirst implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeEye development and retinogenesisCHX10 targets a subset of photoreceptor genesTranscriptional activity of the paired-like homeodomain proteins CHX10 and VSX1Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypesExpression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closureNuclear export is evolutionarily conserved in CVC paired-like homeobox proteins and influences protein stability, transcriptional activation, and extracellular secretion.Absence of chx10 causes neural progenitors to persist in the adult retinaVsx2 in the zebrafish retina: restricted lineages through derepression.The eyeless mouse mutation (ey1) removes an alternative start codon from the Rx/rax homeobox gene.Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.Identification and functional characterization of cytoplasmic determinants of plasmid DNA nuclear import.Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene.Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomaliesA transgenic mouse line expressing cre recombinase in undifferentiated postmitotic mouse retinal bipolar cell precursorsTargeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsA locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.Novel SOX2 partner-factor domain mutation in a four-generation familyMissense mutations of human homeoboxes: A review.Vsx2 controls eye organogenesis and retinal progenitor identity via homeodomain and non-homeodomain residues required for high affinity DNA bindingMutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.Chx10 is required to block photoreceptor differentiation but is dispensable for progenitor proliferation in the postnatal retina.Genetic analysis of axial length genes in high grade myopia from Indian population.Delivery of adeno-associated virus vectors to the fetal retina: impact of viral capsid proteins on retinal neuronal progenitor transductionVSX2 mutations in autosomal recessive microphthalmia
P2860
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P2860
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
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2000 nî lūn-bûn
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2000 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
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2000 թվականի օգոստոսին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
@ast
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
@en
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
@nl
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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
@ast
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
@en
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
@nl
prefLabel
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
@ast
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
@en
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
@nl
P2093
P3181
P356
P1433
P1476
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
@en
P2093
Ferda Percin E
Horsford DJ
Kalnins VI
Kocak-Altintas A
McInnes RR
Rutherford A
P2888
P304
P3181
P356
10.1038/78071
P407
P577
2000-08-01T00:00:00Z