Published in Pigment Cell Melanoma Res on May 26, 2009
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet (2010) 3.09
Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet (2013) 1.10
The EJC component Magoh regulates proliferation and expansion of neural crest-derived melanocytes. Dev Biol (2013) 0.91
An iterative genetic and dynamical modelling approach identifies novel features of the gene regulatory network underlying melanocyte development. PLoS Genet (2011) 0.88
A curated online resource for SOX10 and pigment cell molecular genetic pathways. Database (Oxford) (2010) 0.79
Genomic analysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes. Hum Mol Genet (2015) 0.78
TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF. PLoS Genet (2017) 0.75
Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma. Nature (2005) 15.28
High-throughput mapping of the chromatin structure of human promoters. Nat Biotechnol (2007) 5.24
Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell (1993) 5.00
MITF: master regulator of melanocyte development and melanoma oncogene. Trends Mol Med (2006) 4.60
The transcription factor Sox10 is a key regulator of peripheral glial development. Genes Dev (2001) 4.40
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82
Melanocytes and the microphthalmia transcription factor network. Annu Rev Genet (2004) 3.78
Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet (1998) 3.51
Metastatic potential of melanomas defined by specific gene expression profiles with no BRAF signature. Pigment Cell Res (2006) 3.42
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet (1994) 2.99
Locating mammalian transcription factor binding sites: a survey of computational and experimental techniques. Genome Res (2006) 2.82
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet (2000) 2.63
Unraveling transcription regulatory networks by protein-DNA and protein-protein interaction mapping. Genome Res (2006) 2.50
Mitf from neural crest to melanoma: signal transduction and transcription in the melanocyte lineage. Genes Dev (2000) 2.43
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum Genet (2000) 2.34
Frequent mutations in the MITF pathway in melanoma. Pigment Cell Melanoma Res (2009) 2.27
Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator. Mol Cell Biol (1994) 2.24
Activation of the receptor tyrosine kinase Kit is required for the proliferation of melanoblasts in the mouse embryo. Dev Biol (1997) 2.20
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc Natl Acad Sci U S A (1998) 2.15
TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor. Development (1992) 2.05
Mutation of melanosome protein RAB38 in chocolate mice. Proc Natl Acad Sci U S A (2002) 2.02
MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma. Am J Pathol (2003) 1.90
Signaling and transcriptional regulation in early mammalian eye development: a link between FGF and MITF. Development (2000) 1.87
A helix-loop-helix transcription factor-like gene is located at the mi locus. J Biol Chem (1993) 1.66
Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma. Cancer Res (2004) 1.64
Spotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disorders. Pigment Cell Res (2004) 1.63
Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes. J Biol Chem (1997) 1.59
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res (1999) 1.53
Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently. Mech Dev (1998) 1.49
Transcriptional and signaling regulation in neural crest stem cell-derived melanocyte development: do all roads lead to Mitf? Cell Res (2008) 1.42
The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor. Hum Genet (1998) 1.39
Embryonic RNA expression patterns of the c-kit receptor and its cognate ligand suggest multiple functional roles in mouse development. EMBO J (1991) 1.37
Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. J Biol Chem (2000) 1.36
Studies on Spotting Patterns I. Analysis of Quantitative Variations in the Pied Spotting of the House Mouse. Genetics (1937) 1.32
Melanocyte-specific expression of dopachrome tautomerase is dependent on synergistic gene activation by the Sox10 and Mitf transcription factors. FEBS Lett (2004) 1.21
Dorsal retinal pigment epithelium differentiates as neural retina in the microphthalmia (mi/mi) mouse. Invest Ophthalmol Vis Sci (2000) 1.21
Analysis of SOX10 function in neural crest-derived melanocyte development: SOX10-dependent transcriptional control of dopachrome tautomerase. Dev Biol (2001) 1.21
The tyrosinase enhancer is activated by Sox10 and Mitf in mouse melanocytes. Pigment Cell Res (2007) 1.18
Involvement of transcription factor encoded by the mi locus in the expression of c-kit receptor tyrosine kinase in cultured mast cells of mice. Blood (1996) 1.16
Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF. J Biol Chem (2001) 1.16
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin Dysmorphol (1998) 1.15
Pmel17 expression is Mitf-dependent and reveals cranial melanoblast migration during murine development. Gene Expr Patterns (2003) 1.14
Direct interaction of Sox10 with the promoter of murine Dopachrome Tautomerase (Dct) and synergistic activation of Dct expression with Mitf. Pigment Cell Res (2004) 1.14
Microphthalmia transcription factor regulates the expression of the novel osteoclast factor GPNMB. Gene (2008) 1.07
Human melastatin 1 (TRPM1) is regulated by MITF and produces multiple polypeptide isoforms in melanocytes and melanoma. Melanoma Res (2004) 1.02
Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders. FASEB J (2007) 1.02
Gpnmb is a melanoblast-expressed, MITF-dependent gene. Pigment Cell Melanoma Res (2008) 1.02
Transcriptional activation of the melanocyte-specific genes by the human homolog of the mouse Microphthalmia protein. J Biochem (1995) 1.00
Interspecies difference in the regulation of melanocyte development by SOX10 and MITF. Proc Natl Acad Sci U S A (2006) 0.99
Quantitative trait loci that modify the severity of spotting in piebald mice. Genome Res (1995) 0.98
Genome-wide location analysis: insights on transcriptional regulation. Hum Mol Genet (2006) 0.96
Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation. Genomics (1996) 0.93
Identification of direct regulatory targets of the transcription factor Sox10 based on function and conservation. BMC Genomics (2008) 0.92
The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. Mech Dev (2002) 0.91
Endothelin signalling in the development of neural crest-derived melanocytes. Biochem Cell Biol (1998) 0.86
The Goodale white-spotted mice: a historical report. J Hered (1976) 0.77
Melanoma mouse model implicates metabotropic glutamate signaling in melanocytic neoplasia. Nat Genet (2003) 2.67
Frequent mutations in the MITF pathway in melanoma. Pigment Cell Melanoma Res (2009) 2.27
The exon junction complex component Magoh controls brain size by regulating neural stem cell division. Nat Neurosci (2010) 2.13
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet (2010) 2.08
Mutation of melanosome protein RAB38 in chocolate mice. Proc Natl Acad Sci U S A (2002) 2.02
The melanomas: a synthesis of epidemiological, clinical, histopathological, genetic, and biological aspects, supporting distinct subtypes, causal pathways, and cells of origin. Pigment Cell Melanoma Res (2011) 1.81
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway. Cell (2013) 1.75
Genomic copy number and expression variation within the C57BL/6J inbred mouse strain. Genome Res (2007) 1.71
Spotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disorders. Pigment Cell Res (2004) 1.63
Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish. PLoS Genet (2008) 1.60
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes. PLoS Genet (2013) 1.50
Defective cerebellar response to mitogenic Hedgehog signaling in Down [corrected] syndrome mice. Proc Natl Acad Sci U S A (2006) 1.47
NRG1 / ERBB3 signaling in melanocyte development and melanoma: inhibition of differentiation and promotion of proliferation. Pigment Cell Melanoma Res (2009) 1.45
Transcriptional and signaling regulation in neural crest stem cell-derived melanocyte development: do all roads lead to Mitf? Cell Res (2008) 1.42
Melanocytes don't always take the high road. Pigment Cell Melanoma Res (2009) 1.39
Sox proteins in melanocyte development and melanoma. Pigment Cell Melanoma Res (2010) 1.38
The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia. Oncogene (2003) 1.37
Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes. Genome Res (2012) 1.35
The secreted metalloprotease ADAMTS20 is required for melanoblast survival. PLoS Genet (2008) 1.34
An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10. BMC Dev Biol (2008) 1.31
Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome. Hum Mol Genet (2005) 1.25
δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem (2012) 1.23
Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease. Curr Top Med Chem (2014) 1.19
Oxidative stress in Niemann-Pick disease, type C. Mol Genet Metab (2010) 1.18
A HCN4+ cardiomyogenic progenitor derived from the first heart field and human pluripotent stem cells. Nat Cell Biol (2013) 1.16
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. Hum Mol Genet (2008) 1.16
Direct interaction of Sox10 with the promoter of murine Dopachrome Tautomerase (Dct) and synergistic activation of Dct expression with Mitf. Pigment Cell Res (2004) 1.14
Pmel17 expression is Mitf-dependent and reveals cranial melanoblast migration during murine development. Gene Expr Patterns (2003) 1.14
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. Hum Mol Genet (2012) 1.10
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. Am J Hum Genet (2005) 1.10
A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation. Development (2003) 1.06
SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer. BMC Dev Biol (2011) 1.03
Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene. Hum Mol Genet (2002) 1.03
Gpnmb is a melanoblast-expressed, MITF-dependent gene. Pigment Cell Melanoma Res (2008) 1.02
WNT1 and WNT3a promote expansion of melanocytes through distinct modes of action. Pigment Cell Res (2005) 1.00
Interspecies difference in the regulation of melanocyte development by SOX10 and MITF. Proc Natl Acad Sci U S A (2006) 0.99
A dual role for SOX10 in the maintenance of the postnatal melanocyte lineage and the differentiation of melanocyte stem cell progenitors. PLoS Genet (2013) 0.99
The genetic regulation of pigment cell development. Adv Exp Med Biol (2006) 0.91
The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. Mech Dev (2002) 0.91
Cell-autonomous and cell non-autonomous signaling through endothelin receptor B during melanocyte development. Development (2004) 0.91
The EJC component Magoh regulates proliferation and expansion of neural crest-derived melanocytes. Dev Biol (2013) 0.91
Analysis of ocular hypopigmentation in Rab38cht/cht mice. Invest Ophthalmol Vis Sci (2007) 0.91
SOX10 ablation arrests cell cycle, induces senescence, and suppresses melanomagenesis. Cancer Res (2013) 0.90
Oligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer. Genesis (2009) 0.89
A Sox10 expression screen identifies an amino acid essential for Erbb3 function. PLoS Genet (2008) 0.87
Pseudogout-associated inflammatory calcium pyrophosphate dihydrate microcrystals induce formation of neutrophil extracellular traps. J Immunol (2013) 0.87
The etiology and molecular genetics of human pigmentation disorders. Wiley Interdiscip Rev Dev Biol (2012) 0.87
Complementation of melanocyte development in SOX10 mutant neural crest using lineage-directed gene transfer. Dev Dyn (2004) 0.86
Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage. Mech Dev (2006) 0.86
Networks and pathways in pigmentation, health, and disease. Wiley Interdiscip Rev Syst Biol Med (2010) 0.86
A unique missense allele of BAF155, a core BAF chromatin remodeling complex protein, causes neural tube closure defects in mice. Dev Neurobiol (2014) 0.84
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. Hum Mol Genet (2013) 0.83
Plasma and tissue concentrations of α-tocopherol and δ-tocopherol following high dose dietary supplementation in mice. Nutrients (2012) 0.82
A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo. PLoS One (2010) 0.82
Human disease genes and their cloned mouse orthologs: exploration of the FANTOM2 cDNA sequence data set. Genome Res (2003) 0.80
A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3. Pigment Cell Res (2007) 0.80
Distinct microRNA expression signatures are associated with melanoma subtypes and are regulated by HIF1A. Pigment Cell Melanoma Res (2014) 0.80
Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients. PLoS One (2013) 0.79
A curated online resource for SOX10 and pigment cell molecular genetic pathways. Database (Oxford) (2010) 0.79
Informatic and genomic analysis of melanocyte cDNA libraries as a resource for the study of melanocyte development and function. Pigment Cell Res (2007) 0.78
Postnatal lineage mapping of follicular melanocytes with the Tyr::CreER(T) (2) transgene. Pigment Cell Melanoma Res (2012) 0.78
Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiency. PLoS Genet (2005) 0.78
A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease. Mol Genet Metab (2013) 0.77
The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signaling. FASEB J (2011) 0.77
Stem cells of the melanocyte lineage. Cancer Biomark (2007) 0.77
Ectopic differentiation of melanocyte stem cells is influenced by genetic background. Pigment Cell Melanoma Res (2015) 0.75
Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes. PLoS Genet (2015) 0.75
Axing the cancer loop. Pigment Cell Melanoma Res (2014) 0.75
Loci associated with skin pigmentation identified in African populations. Science (2017) 0.75
Corrigendum: Endothelin-1 supports clonal derivation and expansion of cardiovascular progenitors derived from human embryonic stem cells. Nat Commun (2016) 0.75