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Volumn 22, Issue , 2006, Pages 201-218

The Developmental Biology of Melanocytes and Its Application to Understanding Human Congenital Disorders of Pigmentation

(1)  Hornyak, Thomas J a  

a NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL; CYTOLOGY; GENETICS; HUMAN; MELANOCYTE; MOUSE; MUTATION; NEURAL CREST; PATHOPHYSIOLOGY; PHYSIOLOGY; PIEBALDISM; PIGMENT DISORDER; PRENATAL DEVELOPMENT; REVIEW; WAARDENBURG SYNDROME;

EID: 33845626688     PISSN: 08820880     EISSN: None     Source Type: Book Series    
DOI: 10.1016/j.yadr.2006.09.002     Document Type: Review
Times cited : (20)

References (67)
  • 3
    • 0020644673 scopus 로고
    • An SEM analysis of neural crest migration in the mouse
    • Erickson C.A., and Weston J.A. An SEM analysis of neural crest migration in the mouse. J Embryol Exp Morphol 74 (1983) 97-118
    • (1983) J Embryol Exp Morphol , vol.74 , pp. 97-118
    • Erickson, C.A.1    Weston, J.A.2
  • 4
    • 77956777907 scopus 로고    scopus 로고
    • Lineage commitment and fate of neural crest-derived neurogenic cells
    • Weston J.A. Lineage commitment and fate of neural crest-derived neurogenic cells. Adv Pharmacol 42 (1998) 887-891
    • (1998) Adv Pharmacol , vol.42 , pp. 887-891
    • Weston, J.A.1
  • 5
    • 0030904123 scopus 로고    scopus 로고
    • Lineages and transcription factors in the specification of vertebrate primary sensory neurons
    • Anderson D.J. Lineages and transcription factors in the specification of vertebrate primary sensory neurons. Trends Genet 13 (1997) 276-280
    • (1997) Trends Genet , vol.13 , pp. 276-280
    • Anderson, D.J.1
  • 6
    • 13244292495 scopus 로고
    • Crest destiny
    • Bronner-Fraser M. Crest destiny. Curr Biol 3 (1993) 201-203
    • (1993) Curr Biol , vol.3 , pp. 201-203
    • Bronner-Fraser, M.1
  • 7
    • 0026497015 scopus 로고
    • Isolation of a mammalian neural crest stem cell
    • Stemple D.L., and Anderson D.J. Isolation of a mammalian neural crest stem cell. Cell 71 (1992) 973-985
    • (1992) Cell , vol.71 , pp. 973-985
    • Stemple, D.L.1    Anderson, D.J.2
  • 8
    • 0001284935 scopus 로고
    • The melanocyte Schwann cell progenitor: a bipotent intermediate in the neural crest lineage
    • Ciment G. The melanocyte Schwann cell progenitor: a bipotent intermediate in the neural crest lineage. Comments Developmental Neurobiology 1 (1990) 207-223
    • (1990) Comments Developmental Neurobiology , vol.1 , pp. 207-223
    • Ciment, G.1
  • 9
    • 0027204149 scopus 로고
    • Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
    • Hodgkinson C.A., Moore K.J., Nakayama A., et al. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 74 (1993) 395-404
    • (1993) Cell , vol.74 , pp. 395-404
    • Hodgkinson, C.A.1    Moore, K.J.2    Nakayama, A.3
  • 10
    • 0030746395 scopus 로고    scopus 로고
    • Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor
    • Opdecamp K., Nakayama A., Nguyen M.-T.T., et al. Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development 124 (1997) 2377-2386
    • (1997) Development , vol.124 , pp. 2377-2386
    • Opdecamp, K.1    Nakayama, A.2    Nguyen, M.-T.T.3
  • 11
    • 0025875226 scopus 로고
    • Pax-3, a novel murine DNA binding protein expressed during early neurogenesis
    • Goulding M.D., Chalepakis G., Deutsch U., et al. Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. EMBO J 10 (1991) 1135-1147
    • (1991) EMBO J , vol.10 , pp. 1135-1147
    • Goulding, M.D.1    Chalepakis, G.2    Deutsch, U.3
  • 12
    • 0035182190 scopus 로고    scopus 로고
    • The transcription factor Sox10 is a key regulator of peripheral glial development
    • Britsch S., Goerich D.E., Riethmacher D., et al. The transcription factor Sox10 is a key regulator of peripheral glial development. Genes Dev 15 (2001) 66-78
    • (2001) Genes Dev , vol.15 , pp. 66-78
    • Britsch, S.1    Goerich, D.E.2    Riethmacher, D.3
  • 13
    • 0028949490 scopus 로고
    • Avian neural crest cells can migrate in the dorsolateral path only if they are specified as melanocytes
    • Erickson C.A., and Goins T.L. Avian neural crest cells can migrate in the dorsolateral path only if they are specified as melanocytes. Development 121 (1995) 915-924
    • (1995) Development , vol.121 , pp. 915-924
    • Erickson, C.A.1    Goins, T.L.2
  • 14
    • 0034641596 scopus 로고    scopus 로고
    • Interaction among SOX10, PAX3, and MITF, three genes altered in Waardenburg syndrome
    • Bondurand N., Pingault V., Goerich D.E., et al. Interaction among SOX10, PAX3, and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet 9 (2000) 1907-1917
    • (2000) Hum Mol Genet , vol.9 , pp. 1907-1917
    • Bondurand, N.1    Pingault, V.2    Goerich, D.E.3
  • 15
    • 0033906468 scopus 로고    scopus 로고
    • Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3
    • Potterf B., Arnheiter H., and Pavan W.J. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum Genet 107 (2000) 1-6
    • (2000) Hum Genet , vol.107 , pp. 1-6
    • Potterf, B.1    Arnheiter, H.2    Pavan, W.J.3
  • 16
    • 10944234560 scopus 로고    scopus 로고
    • Melanocytes and the microphthalmia transcription factor network
    • Steingrimsson E., Copeland N.G., and Jenkins N.A. Melanocytes and the microphthalmia transcription factor network. Annu Rev Genet 38 (2004) 365-411
    • (2004) Annu Rev Genet , vol.38 , pp. 365-411
    • Steingrimsson, E.1    Copeland, N.G.2    Jenkins, N.A.3
  • 17
    • 0029098575 scopus 로고
    • Structure of the mouse tyrosinase-related protein-2/dopachrome tautomerase (Tyrp2/Dct) gene and sequence of two novel slaty alleles
    • Budd P.S., and Jackson I.J. Structure of the mouse tyrosinase-related protein-2/dopachrome tautomerase (Tyrp2/Dct) gene and sequence of two novel slaty alleles. Genomics 29 (1995) 35-43
    • (1995) Genomics , vol.29 , pp. 35-43
    • Budd, P.S.1    Jackson, I.J.2
  • 18
    • 0026446976 scopus 로고
    • TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor
    • Steel K.P., Davidson D.R., and Jackson I.J. TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor. Development 115 (1992) 1111-1119
    • (1992) Development , vol.115 , pp. 1111-1119
    • Steel, K.P.1    Davidson, D.R.2    Jackson, I.J.3
  • 19
    • 0346725015 scopus 로고    scopus 로고
    • Melanocyte-specific expression of dopachrome tautomerase is dependent on synergistic gene activation by the Sox10 and Mitf transcription factors
    • Ludwig A., Rehberg S., and Wegner M. Melanocyte-specific expression of dopachrome tautomerase is dependent on synergistic gene activation by the Sox10 and Mitf transcription factors. FEBS Lett 556 (2004) 236-244
    • (2004) FEBS Lett , vol.556 , pp. 236-244
    • Ludwig, A.1    Rehberg, S.2    Wegner, M.3
  • 20
    • 3342920712 scopus 로고    scopus 로고
    • Direct interaction of Sox10 with the promoter of murine Dopachrome Tautomerase (Dct) and synergistic activation of Dct expression with Mitf
    • Jiao Z., Mollaaghababa R., Pavan W.J., et al. Direct interaction of Sox10 with the promoter of murine Dopachrome Tautomerase (Dct) and synergistic activation of Dct expression with Mitf. Pigment Cell Res 17 (2004) 352-362
    • (2004) Pigment Cell Res , vol.17 , pp. 352-362
    • Jiao, Z.1    Mollaaghababa, R.2    Pavan, W.J.3
  • 21
    • 14544303647 scopus 로고    scopus 로고
    • Pax3 functions at a nodal point in melanocyte stem cell differentiation
    • Lang D., Lu M.M., Huang L., et al. Pax3 functions at a nodal point in melanocyte stem cell differentiation. Nature 433 (2005) 884-887
    • (2005) Nature , vol.433 , pp. 884-887
    • Lang, D.1    Lu, M.M.2    Huang, L.3
  • 22
    • 0033571307 scopus 로고    scopus 로고
    • Regulation of E- and P-Cadherin expression correlated with melanocyte migration and diversification
    • Nishimura E.K., Yoshida H., Kunisada T., et al. Regulation of E- and P-Cadherin expression correlated with melanocyte migration and diversification. Dev Biol 215 (1999) 155-166
    • (1999) Dev Biol , vol.215 , pp. 155-166
    • Nishimura, E.K.1    Yoshida, H.2    Kunisada, T.3
  • 23
    • 0028908201 scopus 로고
    • Soluble and cell-bound forms of steel factor activity play distinct roles in melanocyte precursor dispersal and survival on the lateral neural crest migration pathway
    • Wehrle-Haller B., and Weston J. Soluble and cell-bound forms of steel factor activity play distinct roles in melanocyte precursor dispersal and survival on the lateral neural crest migration pathway. Development 121 (1995) 731-742
    • (1995) Development , vol.121 , pp. 731-742
    • Wehrle-Haller, B.1    Weston, J.2
  • 24
    • 0017644138 scopus 로고
    • Pigmentation of the stria vascularis. The contribution of neural crest melanocytes
    • Hilding D.A., and Ginzberg R.D. Pigmentation of the stria vascularis. The contribution of neural crest melanocytes. Acta Otolaryngol 84 (1977) 24-37
    • (1977) Acta Otolaryngol , vol.84 , pp. 24-37
    • Hilding, D.A.1    Ginzberg, R.D.2
  • 25
    • 0024314157 scopus 로고
    • Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear
    • Steel K.P., and Barkway C. Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear. Development 107 (1989) 453-463
    • (1989) Development , vol.107 , pp. 453-463
    • Steel, K.P.1    Barkway, C.2
  • 26
    • 0032863480 scopus 로고    scopus 로고
    • Immunological identification of an inward rectifier K+ channel (Kir4.1) in the intermediate cell (melanocyte) of the cochlear stria vascularis of gerbils and rats
    • Ando M., and Takeuchi S. Immunological identification of an inward rectifier K+ channel (Kir4.1) in the intermediate cell (melanocyte) of the cochlear stria vascularis of gerbils and rats. Cell Tissue Res 298 (1999) 179-183
    • (1999) Cell Tissue Res , vol.298 , pp. 179-183
    • Ando, M.1    Takeuchi, S.2
  • 27
    • 0036086734 scopus 로고    scopus 로고
    • KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential
    • Marcus D.C., Wu T., Wangemann P., et al. KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential. Am J Physiol Cell Physiol 282 (2002) C403-C407
    • (2002) Am J Physiol Cell Physiol , vol.282
    • Marcus, D.C.1    Wu, T.2    Wangemann, P.3
  • 28
    • 0002713189 scopus 로고    scopus 로고
    • Extracutaneous melanocytes
    • James J., Nordlund R., Boissy E., et al. (Eds), Oxford, New York
    • Boissy R.E. Extracutaneous melanocytes. In: James J., Nordlund R., Boissy E., et al. (Eds). The pigmentary system: physiology and pathophysiology (2004), Oxford, New York 59-73
    • (2004) The pigmentary system: physiology and pathophysiology , pp. 59-73
    • Boissy, R.E.1
  • 29
    • 0034677891 scopus 로고    scopus 로고
    • Retinal stem cells in the adult mammalian eye
    • Tropepe V., Coles B.L., Chiasson B.J., et al. Retinal stem cells in the adult mammalian eye. Science 287 (2000) 2032-2036
    • (2000) Science , vol.287 , pp. 2032-2036
    • Tropepe, V.1    Coles, B.L.2    Chiasson, B.J.3
  • 30
    • 0029410697 scopus 로고
    • The retinal pigmented epithelium is required for development and maintenance of the mouse neural retina
    • Raymond S.M., and Jackson I.J. The retinal pigmented epithelium is required for development and maintenance of the mouse neural retina. Curr Biol 5 (1995) 1286-1295
    • (1995) Curr Biol , vol.5 , pp. 1286-1295
    • Raymond, S.M.1    Jackson, I.J.2
  • 31
    • 0031931010 scopus 로고    scopus 로고
    • Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently
    • Nakayama A., Nguyen M.-T.T., Chen C.C., et al. Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently. Mech Dev 70 (1998) 155-166
    • (1998) Mech Dev , vol.70 , pp. 155-166
    • Nakayama, A.1    Nguyen, M.-T.T.2    Chen, C.C.3
  • 32
    • 13444270824 scopus 로고    scopus 로고
    • Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity
    • Horsford D.J., Nguyen M.T., Sellar G.C., et al. Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity. Development 132 (2005) 177-187
    • (2005) Development , vol.132 , pp. 177-187
    • Horsford, D.J.1    Nguyen, M.T.2    Sellar, G.C.3
  • 33
    • 0037171764 scopus 로고    scopus 로고
    • Dominant role of the niche in melanocyte stem-cell fate determination
    • Nishimura E.K., Jordan S.A., Oshima H., et al. Dominant role of the niche in melanocyte stem-cell fate determination. Nature 416 (2002) 854-860
    • (2002) Nature , vol.416 , pp. 854-860
    • Nishimura, E.K.1    Jordan, S.A.2    Oshima, H.3
  • 34
    • 13244287677 scopus 로고    scopus 로고
    • Mechanisms of hair graying: incomplete melanocyte stem cell maintenance in the niche
    • Nishimura E.K., Granter S.R., and Fisher D.E. Mechanisms of hair graying: incomplete melanocyte stem cell maintenance in the niche. Science 307 (2005) 720-724
    • (2005) Science , vol.307 , pp. 720-724
    • Nishimura, E.K.1    Granter, S.R.2    Fisher, D.E.3
  • 35
    • 1242322195 scopus 로고    scopus 로고
    • Hair cycle and hair pigmentation: dynamic interactions and changes associated with aging
    • Van Neste D., and Tobin D.J. Hair cycle and hair pigmentation: dynamic interactions and changes associated with aging. Micron 35 (2004) 193-200
    • (2004) Micron , vol.35 , pp. 193-200
    • Van Neste, D.1    Tobin, D.J.2
  • 36
    • 0027380535 scopus 로고
    • Upper human hair follicle contains a subpopulation of keratinocytes with superior in vitro proliferative potential
    • Yang J.S., Lavker R.M., and Sun T.T. Upper human hair follicle contains a subpopulation of keratinocytes with superior in vitro proliferative potential. J Invest Dermatol 101 (1993) 652-659
    • (1993) J Invest Dermatol , vol.101 , pp. 652-659
    • Yang, J.S.1    Lavker, R.M.2    Sun, T.T.3
  • 38
    • 0025188791 scopus 로고
    • Mouse and hamster mutants as models for Waardenburg syndromes in humans
    • Asher Jr. J.H., and Friedman T.B. Mouse and hamster mutants as models for Waardenburg syndromes in humans. J Med Genet 27 (1990) 618-626
    • (1990) J Med Genet , vol.27 , pp. 618-626
    • Asher Jr., J.H.1    Friedman, T.B.2
  • 39
    • 0028062014 scopus 로고
    • microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family
    • Hemesath T.J., Steingrímsson E., McGill G., et al. microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev 8 (1994) 2770-2780
    • (1994) Genes Dev , vol.8 , pp. 2770-2780
    • Hemesath, T.J.1    Steingrímsson, E.2    McGill, G.3
  • 40
    • 17944371185 scopus 로고    scopus 로고
    • Linkage of M-CSF signaling to Mitf, TFE3, and the osteoclast defect in Mitf(mi/mi) mice
    • Weilbaecher K.N., Hershey C.L., Takemoto C.H., et al. Linkage of M-CSF signaling to Mitf, TFE3, and the osteoclast defect in Mitf(mi/mi) mice. Mol Cell 8 (2001) 749-758
    • (2001) Mol Cell , vol.8 , pp. 749-758
    • Weilbaecher, K.N.1    Hershey, C.L.2    Takemoto, C.H.3
  • 41
    • 0032518262 scopus 로고    scopus 로고
    • MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes
    • Hemesath T.J., Price E.R., Takemoto C., et al. MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes. Nature 391 (1998) 298-301
    • (1998) Nature , vol.391 , pp. 298-301
    • Hemesath, T.J.1    Price, E.R.2    Takemoto, C.3
  • 42
    • 0034142326 scopus 로고    scopus 로고
    • c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi
    • Wu M., Hemesath T.J., Takemoto C.M., et al. c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi. Genes Dev 14 (2000) 301-312
    • (2000) Genes Dev , vol.14 , pp. 301-312
    • Wu, M.1    Hemesath, T.J.2    Takemoto, C.M.3
  • 43
    • 0023694835 scopus 로고
    • The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus
    • Chabot B., Stephenson D.A., Chapman V.M., et al. The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature 335 (1988) 88-89
    • (1988) Nature , vol.335 , pp. 88-89
    • Chabot, B.1    Stephenson, D.A.2    Chapman, V.M.3
  • 44
    • 33845669596 scopus 로고    scopus 로고
    • Mouse Genome Database (MGD), Mouse Genome Informatics Web Site, The Jackson Laboratory, Bar Harbor, Maine. Available at: http://www.informatics.jax.org. Accessed April 2006.
  • 45
    • 0025925068 scopus 로고
    • 2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3
    • 2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 67 (1991) 767-774
    • (1991) Cell , vol.67 , pp. 767-774
    • Epstein, D.J.1    Vekemans, M.2    Gros, P.3
  • 46
    • 0002255910 scopus 로고
    • New Splotch alleles in the mouse
    • Dickie M.M. New Splotch alleles in the mouse. J Hered 55 (1964) 97-101
    • (1964) J Hered , vol.55 , pp. 97-101
    • Dickie, M.M.1
  • 47
    • 0035110947 scopus 로고    scopus 로고
    • Transcription factors in melanocyte development: distinct roles for Pax-3 and Mitf
    • Hornyak T.J., Hayes D.H., Chiu L.-Y., et al. Transcription factors in melanocyte development: distinct roles for Pax-3 and Mitf. Mech Dev 101 (2001) 47-59
    • (2001) Mech Dev , vol.101 , pp. 47-59
    • Hornyak, T.J.1    Hayes, D.H.2    Chiu, L.-Y.3
  • 48
    • 0031984825 scopus 로고    scopus 로고
    • Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
    • Southard-Smith E.M., Kos L., and Pavan W.J. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 18 (1998) 60-64
    • (1998) Nat Genet , vol.18 , pp. 60-64
    • Southard-Smith, E.M.1    Kos, L.2    Pavan, W.J.3
  • 49
    • 0028639196 scopus 로고
    • Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons
    • Hosoda K., Hammer R.E., Richardson J.A., et al. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79 (1994) 1267-1276
    • (1994) Cell , vol.79 , pp. 1267-1276
    • Hosoda, K.1    Hammer, R.E.2    Richardson, J.A.3
  • 50
    • 0028609612 scopus 로고
    • Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons
    • Baynash A.G., Hosoda K., Giaid A., et al. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79 (1994) 1277-1285
    • (1994) Cell , vol.79 , pp. 1277-1285
    • Baynash, A.G.1    Hosoda, K.2    Giaid, A.3
  • 51
    • 76949125703 scopus 로고
    • A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness
    • Waardenburg P.J. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 3 (1951) 195-253
    • (1951) Am J Hum Genet , vol.3 , pp. 195-253
    • Waardenburg, P.J.1
  • 53
    • 0030739603 scopus 로고    scopus 로고
    • Waardenburg syndrome
    • Read A.P., and Newton V.E. Waardenburg syndrome. J Med Genet 34 (1997) 656-665
    • (1997) J Med Genet , vol.34 , pp. 656-665
    • Read, A.P.1    Newton, V.E.2
  • 54
    • 0025099433 scopus 로고
    • Hearing loss and Waardenburg syndrome: implications for genetic counseling
    • Newton V.E. Hearing loss and Waardenburg syndrome: implications for genetic counseling. J Laryngol Otol 104 (1990) 97-103
    • (1990) J Laryngol Otol , vol.104 , pp. 97-103
    • Newton, V.E.1
  • 55
    • 0028908831 scopus 로고
    • Waardenburg syndrome type 2: phenotypic findings and diagnostic criteria
    • Liu X.Z., Newton V.E., and Read A.P. Waardenburg syndrome type 2: phenotypic findings and diagnostic criteria. Am J Med Genet 55 (1995) 95-100
    • (1995) Am J Med Genet , vol.55 , pp. 95-100
    • Liu, X.Z.1    Newton, V.E.2    Read, A.P.3
  • 56
    • 0033642048 scopus 로고    scopus 로고
    • Waardenburg syndrome
    • Kitamura K., and Steel K.P. (Eds), Karger, Basel (Switzerland)
    • Read A.P. Waardenburg syndrome. In: Kitamura K., and Steel K.P. (Eds). Genetics in otorhinolaryngology (2000), Karger, Basel (Switzerland) 32-38
    • (2000) Genetics in otorhinolaryngology , pp. 32-38
    • Read, A.P.1
  • 57
    • 0027943189 scopus 로고
    • Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
    • Tassabehji M., Newton V.E., and Read A.P. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 8 (1994) 251-255
    • (1994) Nat Genet , vol.8 , pp. 251-255
    • Tassabehji, M.1    Newton, V.E.2    Read, A.P.3
  • 58
    • 0028972923 scopus 로고
    • The mutational spectrum in Waardenburg syndrome
    • Tassabehji M., Newton V.E., Liu X.Z., et al. The mutational spectrum in Waardenburg syndrome. Hum Mol Genet 4 (1995) 2131-2137
    • (1995) Hum Mol Genet , vol.4 , pp. 2131-2137
    • Tassabehji, M.1    Newton, V.E.2    Liu, X.Z.3
  • 60
    • 0033564652 scopus 로고    scopus 로고
    • wh allele on phenotype of murine mast cells
    • wh allele on phenotype of murine mast cells. Blood 12 (1999) 4179-4186
    • (1999) Blood , vol.12 , pp. 4179-4186
    • Kim, D.-K.1    Morii, E.2    Ogihara, H.3
  • 61
    • 0027439075 scopus 로고
    • Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome Type I (WS-I)
    • Hoth C.F., Milunsky A., Lipsky N., et al. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome Type I (WS-I). Am J Hum Genet 52 (1993) 455-462
    • (1993) Am J Hum Genet , vol.52 , pp. 455-462
    • Hoth, C.F.1    Milunsky, A.2    Lipsky, N.3
  • 62
    • 0030891318 scopus 로고    scopus 로고
    • Ectopic Pax-3 activated MyoD and Myf-5 expression in embryonic mesoderm and neural tissue
    • Maroto M., Reshef R., Münsterberg A.E., et al. Ectopic Pax-3 activated MyoD and Myf-5 expression in embryonic mesoderm and neural tissue. Cell 89 (1997) 139-148
    • (1997) Cell , vol.89 , pp. 139-148
    • Maroto, M.1    Reshef, R.2    Münsterberg, A.E.3
  • 64
    • 0343245112 scopus 로고
    • A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
    • Tietz W. A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. Am J Hum Genet 15 (1963) 259-264
    • (1963) Am J Hum Genet , vol.15 , pp. 259-264
    • Tietz, W.1
  • 65
    • 0028091741 scopus 로고
    • Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences
    • Steingrímsson E., Moore K.J., Lamoreux M.L., et al. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nat Genet 8 (1994) 256-263
    • (1994) Nat Genet , vol.8 , pp. 256-263
    • Steingrímsson, E.1    Moore, K.J.2    Lamoreux, M.L.3
  • 66
    • 0025940323 scopus 로고
    • Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism
    • Giebel L.B., and Spritz R.A. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci U S A 88 (1991) 8696-8699
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 8696-8699
    • Giebel, L.B.1    Spritz, R.A.2
  • 67
    • 0031964940 scopus 로고    scopus 로고
    • Piebaldism with deafness: molecular evidence for an expanded syndrome
    • Spritz R.A., and Beighton P. Piebaldism with deafness: molecular evidence for an expanded syndrome. Am J Med Genet 75 (1998) 101-103
    • (1998) Am J Med Genet , vol.75 , pp. 101-103
    • Spritz, R.A.1    Beighton, P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.