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Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiencyNiemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasisSox10 mutation disrupts neural crest development in Dom Hirschsprung mouse modelMutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafnessGpnmb is a melanoblast-expressed, MITF-dependent geneCollaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 diseaseA dual role for SOX10 in the maintenance of the postnatal melanocyte lineage and the differentiation of melanocyte stem cell progenitorsMutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypesLocalization of a neural crest transcription factor, Slug, to mouse chromosome 16 and human chromosome 8A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathwayA Sox10 expression screen identifies an amino acid essential for Erbb3 function.Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C DiseaseA sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathyPraja1, a novel gene encoding a RING-H2 motif in mouse developmentMelanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factorInformatic selection of a neural crest-melanocyte cDNA set for microarray analysis.Informatic and genomic analysis of melanocyte cDNA libraries as a resource for the study of melanocyte development and function.Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish.An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10.High-efficiency yeast artificial chromosome fragmentation vectors.Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type CNetworks and pathways in pigmentation, health, and disease.Postnatal lineage mapping of follicular melanocytes with the Tyr::CreER(T) (2) transgeneOligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer.A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.The exon junction complex component Magoh controls brain size by regulating neural stem cell division.BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiationSOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer.Sox proteins in melanocyte development and melanoma.Distinct microRNA expression signatures are associated with melanoma subtypes and are regulated by HIF1A.Oxidative stress in Niemann-Pick disease, type CA curated online resource for SOX10 and pigment cell molecular genetic pathwaysGenetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineageComparison of melanoblast expression patterns identifies distinct classes of genesNRG1 / ERBB3 signaling in melanocyte development and melanoma: inhibition of differentiation and promotion of proliferation.Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.Interspecies difference in the regulation of melanocyte development by SOX10 and MITF.The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signaling.Ectopic differentiation of melanocyte stem cells is influenced by genetic background.Rescue of an in vitro neuron phenotype identified in Niemann-Pick disease, type C1 induced pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signaling
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
William J Pavan
@ast
William J Pavan
@en
William J Pavan
@es
William J Pavan
@nl
William J Pavan
@sl
type
label
William J Pavan
@ast
William J Pavan
@en
William J Pavan
@es
William J Pavan
@nl
William J Pavan
@sl
prefLabel
William J Pavan
@ast
William J Pavan
@en
William J Pavan
@es
William J Pavan
@nl
William J Pavan
@sl
P106
P21
P31
P496
0000-0001-8281-5120