SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
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Human cytomegalovirus infection causes premature and abnormal differentiation of human neural progenitor cellsSox2 and Pou2f1 interact to control lens and olfactory placode developmentPleiotropic effects of Sox2 during the development of the zebrafish epithalamusA GRFa2/Prop1/stem (GPS) cell niche in the pituitaryMultiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endodermSox2 is required for development of taste bud sensory cellsMutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humansSix3 activation of Pax6 expression is essential for mammalian lens induction and specificationSOX2 is a dose-dependent regulator of retinal neural progenitor competenceCharacterization of the Zika virus two-component NS2B-NS3 protease and structure-assisted identification of allosteric small-molecule antagonists.Sensory hair cell regeneration in the zebrafish lateral line.Pleiotropic functions for transcription factor zscan10.Sox2 and JAGGED1 expression in normal and drug-damaged adult mouse inner ear.Neurosensory development and cell fate determination in the human cochlea.Genetic regulation of pituitary gland development in human and mouseSOX2 is required for inner ear neurogenesis.The use of neuroimaging for assessing disorders of pituitary development.Septo-optic dysplasiaGenerating retinal neurons by reprogramming retinal pigment epithelial cells.Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.Parent-of-origin effects in SOX2 anophthalmia syndromeSOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.The endocytic recycling regulatory protein EHD1 Is required for ocular lens developmentIdentification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.The molecular biology of ear development - "Twenty years are nothing"Sox2 signaling in prosensory domain specification and subsequent hair cell differentiation in the developing cochleaSequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.SOX2-LIN28/let-7 pathway regulates proliferation and neurogenesis in neural precursors.Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for researchProgression of neurogenesis in the inner ear requires inhibition of Sox2 transcription by neurogenin1 and neurod1.Specification of cell fate in the mammalian cochleaSry, more than testis determination?Can the 'neuron theory' be complemented by a universal mechanism for generic neuronal differentiation.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.C-MYC transcriptionally amplifies SOX2 target genes to regulate self-renewal in multipotent otic progenitor cells.Combinatorial regulation of optic cup progenitor cell fate by SOX2 and PAX6.Single-Cell Transcriptome Analysis of Developing and Regenerating Spiral Ganglion Neurons.Reprogramming retinal pigment epithelium to differentiate toward retinal neurons with Sox2.Differential and overlapping expression pattern of SOX2 and SOX9 in inner ear development.
P2860
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P2860
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
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2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
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2005年學術文章
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name
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
@en
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
@nl
type
label
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
@en
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
@nl
prefLabel
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
@en
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
@nl
P2093
P356
P1476
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
@en
P2093
Elias I Traboulsi
Ellen Simpson
Gayle J T Pauer
Irene H Maumenee
Janet Reid
Stephanie A Hagstrom
P356
10.1002/AJMG.A.30803
P407
P577
2005-10-01T00:00:00Z