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White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathiesHow Tissue Mechanical Properties Affect Enteric Neural Crest Cell MigrationA molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathiesInteraction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndromeThe role of SOX10 during enteric nervous system developmentEDNRB mutations cause Waardenburg syndrome type II in the heterozygous stateEndothelin-3 stimulates cell adhesion and cooperates with β1-integrins during enteric nervous system ontogenesis.Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patientReview and update of mutations causing Waardenburg syndrome.Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.Mouse models of Hirschsprung disease and other developmental disorders of the enteric nervous system: Old and new players.Sox10 and Itgb1 interaction in enteric neural crest cell migration.ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.Corrigendum: How Tissue Mechanical Properties Affect Enteric Neural Crest Cell MigrationAlu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?SOX10 mutations mimic isolated hearing loss.Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlled by Endothelin 3 and Requires Regulation of Ednrb by SOX10 and ZEB2.Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development.Maintenance of mammalian enteric nervous system progenitors by SOX10 and endothelin 3 signalling.Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development.A homozygousPAX3mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosisAn Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung DiseaseNeuron and glia generating progenitors of the mammalian enteric nervous system isolated from foetal and postnatal gut culturesHuman Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10Expression of the SOX10 gene during human development
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description
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wetenschapper
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հետազոտող
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P1053
H-4737-2017
P106
P31
P3829
P496
0000-0002-1531-1544