메뉴 건너뛰기




Volumn 81, Issue 2, 2007, Pages 243-251

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CELL TYPE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE INACTIVATION; GENE MUTATION; GENETIC COUNSELING; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MELANOCYTE; MOSAICISM; NEURAL CREST; NEUROFIBROMATOSIS; NF1 GENE; PRIORITY JOURNAL; PSEUDOGENE; QUANTITATIVE ASSAY; SCHWANN CELL; SOMATIC MUTATION; SYMPTOMATOLOGY; WILD TYPE;

EID: 34547796898     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/519562     Document Type: Article
Times cited : (136)

References (43)
  • 1
    • 0025244911 scopus 로고
    • The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae
    • Xu GF, Lin B, Tanaka K, Dunn D, Wood D, Gesteland R, White R, Weiss R, Tamanoi F (1990) The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae. Cell 63:835-841
    • (1990) Cell , vol.63 , pp. 835-841
    • Xu, G.F.1    Lin, B.2    Tanaka, K.3    Dunn, D.4    Wood, D.5    Gesteland, R.6    White, R.7    Weiss, R.8    Tamanoi, F.9
  • 3
    • 0025201012 scopus 로고
    • The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins
    • Ballester R, Marchuk D, Boguski M, Saulino A, Letcher R, Wigler M, Collins F (1990) The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 63:851-859
    • (1990) Cell , vol.63 , pp. 851-859
    • Ballester, R.1    Marchuk, D.2    Boguski, M.3    Saulino, A.4    Letcher, R.5    Wigler, M.6    Collins, F.7
  • 7
    • 27144550883 scopus 로고    scopus 로고
    • Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1
    • Consoli C, Moss C, Green S, Balderson D, Cooper DN, Upadhyaya M (2005) Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. J Invest Dermatol 125:463-466
    • (2005) J Invest Dermatol , vol.125 , pp. 463-466
    • Consoli, C.1    Moss, C.2    Green, S.3    Balderson, D.4    Cooper, D.N.5    Upadhyaya, M.6
  • 8
    • 0035849530 scopus 로고    scopus 로고
    • The clinical and diagnostic implications of mosaicism in the neurofibromatoses
    • Ruggieri M, Huson SM (2001) The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 56:1433-1443
    • (2001) Neurology , vol.56 , pp. 1433-1443
    • Ruggieri, M.1    Huson, S.M.2
  • 9
    • 0036789093 scopus 로고    scopus 로고
    • Mechanisms and consequences of somatic mosaicism in humans
    • Youssoufian H, Pyeritz RE (2002) Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 3:748-758
    • (2002) Nat Rev Genet , vol.3 , pp. 748-758
    • Youssoufian, H.1    Pyeritz, R.E.2
  • 10
    • 0026015177 scopus 로고
    • Pigment content of cultured human melanocytes does not correlate with tyrosinase message level
    • Naeyaert JM, Eller M, Gordon PR, Park HY, Gilchrest BA (1991) Pigment content of cultured human melanocytes does not correlate with tyrosinase message level. Br J Dermatol 125:297-303
    • (1991) Br J Dermatol , vol.125 , pp. 297-303
    • Naeyaert, J.M.1    Eller, M.2    Gordon, P.R.3    Park, H.Y.4    Gilchrest, B.A.5
  • 11
    • 0034642298 scopus 로고    scopus 로고
    • Schwann cells harbor the somatic NF1 mutation in neurofibromas: Evidence of two different Schwann cell subpopulations
    • Serra E, Rosenbaum T, Winner U, Aledo R, Ars E, Estivill X, Lenard HG, Lazaro C (2000) Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. Hum Mol Genet 9:3055-3064
    • (2000) Hum Mol Genet , vol.9 , pp. 3055-3064
    • Serra, E.1    Rosenbaum, T.2    Winner, U.3    Aledo, R.4    Ars, E.5    Estivill, X.6    Lenard, H.G.7    Lazaro, C.8
  • 14
    • 0034081412 scopus 로고    scopus 로고
    • Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
    • Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, De Paepe A (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 15:541-555
    • (2000) Hum Mutat , vol.15 , pp. 541-555
    • Messiaen, L.M.1    Callens, T.2    Mortier, G.3    Beysen, D.4    Vandenbroucke, I.5    Van Roy, N.6    Speleman, F.7    De Paepe, A.8
  • 17
    • 0025813519 scopus 로고
    • An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1)
    • Xu GF, Nelson L, O'Connell P, White R (1991) An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1). Nucleic Acids Res 19:3764
    • (1991) Nucleic Acids Res , vol.19 , pp. 3764
    • Xu, G.F.1    Nelson, L.2    O'Connell, P.3    White, R.4
  • 18
    • 0027434880 scopus 로고
    • A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene
    • Lazaro C, Gaona A, Xu G, Weiss R, Estivill X (1993) A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene. Hum Genet 92:429-430
    • (1993) Hum Genet , vol.92 , pp. 429-430
    • Lazaro, C.1    Gaona, A.2    Xu, G.3    Weiss, R.4    Estivill, X.5
  • 19
    • 0027175495 scopus 로고
    • Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene
    • Lazaro C, Gaona A, Ravella A, Volpini V, Casals T, Fuentes JJ, Estivill X (1993) Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene. Hum Mol Genet 2:725-730
    • (1993) Hum Mol Genet , vol.2 , pp. 725-730
    • Lazaro, C.1    Gaona, A.2    Ravella, A.3    Volpini, V.4    Casals, T.5    Fuentes, J.J.6    Estivill, X.7
  • 20
    • 0028013195 scopus 로고
    • Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene
    • Lazaro C, Gaona A, Estivill X (1994) Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene. Hum Genet 93:351-352
    • (1994) Hum Genet , vol.93 , pp. 351-352
    • Lazaro, C.1    Gaona, A.2    Estivill, X.3
  • 22
    • 33750631751 scopus 로고    scopus 로고
    • Real-time quantitative allele discrimination assay using 3′ locked nucleic acid primers for detection of low-percentage mosaic mutations
    • Maertens O, Legius E, Speleman F, Messiaen L, Vandesompele J (2006) Real-time quantitative allele discrimination assay using 3′ locked nucleic acid primers for detection of low-percentage mosaic mutations. Anal Biochem 359:144-146
    • (2006) Anal Biochem , vol.359 , pp. 144-146
    • Maertens, O.1    Legius, E.2    Speleman, F.3    Messiaen, L.4    Vandesompele, J.5
  • 24
    • 0034639937 scopus 로고    scopus 로고
    • Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1
    • Rutkowski JL, Wu K, Gutmann DH, Boyer PJ, Legius E (2000) Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1. Hum Mol Genet 9:1059-1066
    • (2000) Hum Mol Genet , vol.9 , pp. 1059-1066
    • Rutkowski, J.L.1    Wu, K.2    Gutmann, D.H.3    Boyer, P.J.4    Legius, E.5
  • 25
    • 0032914916 scopus 로고    scopus 로고
    • Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma
    • Kluwe L, Friedrich R, Mautner VF (1999) Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma. Genes Chromosomes Cancer 24:283-285
    • (1999) Genes Chromosomes Cancer , vol.24 , pp. 283-285
    • Kluwe, L.1    Friedrich, R.2    Mautner, V.F.3
  • 26
    • 0036084905 scopus 로고    scopus 로고
    • Schultz ES, Kaufmann D, Tinschert S, Schell H, von den Driesch P, Schuler G (2002) Segmental neurofibromatosis. Dermatology 204:296-297
    • Schultz ES, Kaufmann D, Tinschert S, Schell H, von den Driesch P, Schuler G (2002) Segmental neurofibromatosis. Dermatology 204:296-297
  • 27
    • 0037012848 scopus 로고    scopus 로고
    • Neurofibromas in NF1: Schwann cell origin and role of tumor environment
    • Zhu Y, Ghosh P, Charnay P, Burns DK, Parada LF (2002) Neurofibromas in NF1: Schwann cell origin and role of tumor environment. Science 296:920-922
    • (2002) Science , vol.296 , pp. 920-922
    • Zhu, Y.1    Ghosh, P.2    Charnay, P.3    Burns, D.K.4    Parada, L.F.5
  • 29
    • 33744722469 scopus 로고    scopus 로고
    • Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cells
    • Munchhof AM, Li F, White HA, Mead LE, Krier TR, Fenoglio A, Li X, Yuan J, Yang FC, Ingram DA (2006) Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cells. Hum Mol Genet 15:1858-1869
    • (2006) Hum Mol Genet , vol.15 , pp. 1858-1869
    • Munchhof, A.M.1    Li, F.2    White, H.A.3    Mead, L.E.4    Krier, T.R.5    Fenoglio, A.6    Li, X.7    Yuan, J.8    Yang, F.C.9    Ingram, D.A.10
  • 31
    • 0035796397 scopus 로고    scopus 로고
    • Hyperactivation of p21(ras) and the hematopoietic-specific Rho GTPase, Rac2, cooperate to alter the proliferation of neurofibromin-deficient mast cells in vivo and in vitro
    • Ingram DA, Hiatt K, King AJ, Fisher L, Shivakumar R, Derstine C, Wenning MJ, Diaz B, Travers JB, Hood A, et al (2001) Hyperactivation of p21(ras) and the hematopoietic-specific Rho GTPase, Rac2, cooperate to alter the proliferation of neurofibromin-deficient mast cells in vivo and in vitro. J Exp Med 194:57-69
    • (2001) J Exp Med , vol.194 , pp. 57-69
    • Ingram, D.A.1    Hiatt, K.2    King, A.J.3    Fisher, L.4    Shivakumar, R.5    Derstine, C.6    Wenning, M.J.7    Diaz, B.8    Travers, J.B.9    Hood, A.10
  • 33
    • 0031559586 scopus 로고    scopus 로고
    • Evidence for the presence of the second allele of the neurofibromatosis type 1 gene in melanocytes derived from cafe au lait macules of NF1 patients
    • Eisenbarth I, Assum G, Kaufmann D, Krone W (1997) Evidence for the presence of the second allele of the neurofibromatosis type 1 gene in melanocytes derived from cafe au lait macules of NF1 patients. Biochem Biophys Res Commun 237:138-141
    • (1997) Biochem Biophys Res Commun , vol.237 , pp. 138-141
    • Eisenbarth, I.1    Assum, G.2    Kaufmann, D.3    Krone, W.4
  • 34
    • 1842473620 scopus 로고    scopus 로고
    • Autocrine and paracrine regulation of melanocytes in human skin and in pigmentary disorders
    • Imokawa G (2004) Autocrine and paracrine regulation of melanocytes in human skin and in pigmentary disorders. Pigment Cell Res 17:96-110
    • (2004) Pigment Cell Res , vol.17 , pp. 96-110
    • Imokawa, G.1
  • 35
    • 0037903285 scopus 로고    scopus 로고
    • The mechanism of epidermal hyperpigmentation in cafe-au-lait macules of neurofibromatosis type 1 (von Recklinghausen's disease) may be associated with dermal fibroblast-derived stem cell factor and hepatocyte growth factor
    • Okazaki M, Yoshimura K, Suzuki Y, Uchida G, Kitano Y, Harii K, Imokawa G (2003) The mechanism of epidermal hyperpigmentation in cafe-au-lait macules of neurofibromatosis type 1 (von Recklinghausen's disease) may be associated with dermal fibroblast-derived stem cell factor and hepatocyte growth factor. Br J Dermatol 148:689-697
    • (2003) Br J Dermatol , vol.148 , pp. 689-697
    • Okazaki, M.1    Yoshimura, K.2    Suzuki, Y.3    Uchida, G.4    Kitano, Y.5    Harii, K.6    Imokawa, G.7
  • 36
    • 33645725190 scopus 로고    scopus 로고
    • Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: Hyperpigmentation of a different kind?
    • De Schepper S, Boucneau J, Vander Haeghen Y, Messiaen L, Naeyaert JM, Lambert J (2006) Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? Arch Dermatol Res 297:439-449
    • (2006) Arch Dermatol Res , vol.297 , pp. 439-449
    • De Schepper, S.1    Boucneau, J.2    Vander Haeghen, Y.3    Messiaen, L.4    Naeyaert, J.M.5    Lambert, J.6
  • 37
    • 0025831953 scopus 로고
    • Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF 1)
    • Kaufmann D, Wiandt S, Veser J, Krone W (1991) Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF 1). Hum Genet 87:144-150
    • (1991) Hum Genet , vol.87 , pp. 144-150
    • Kaufmann, D.1    Wiandt, S.2    Veser, J.3    Krone, W.4
  • 39
    • 0027211048 scopus 로고
    • Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP-Ras
    • Johnson MR, Look AT, DeClue JE, Valentine MB, Lowy DR (1993) Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP-Ras. Proc Natl Acad Sci USA 90:5539-5543
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 5539-5543
    • Johnson, M.R.1    Look, A.T.2    DeClue, J.E.3    Valentine, M.B.4    Lowy, D.R.5
  • 40
    • 33748986055 scopus 로고    scopus 로고
    • Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR
    • Rubben A, Bausch B, Nikkels A (2006) Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR. Mol Cancer 5:36
    • (2006) Mol Cancer , vol.5 , pp. 36
    • Rubben, A.1    Bausch, B.2    Nikkels, A.3
  • 41
    • 0034608796 scopus 로고    scopus 로고
    • Endothelin 3 induces the reversion of melanocytes to glia through a neural crest-derived glial-melanocytic progenitor
    • Dupin E, Glavieux C, Vaigot P, Le Douarin NM (2000) Endothelin 3 induces the reversion of melanocytes to glia through a neural crest-derived glial-melanocytic progenitor. Proc Natl Acad Sci USA 97:7882-7887
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 7882-7887
    • Dupin, E.1    Glavieux, C.2    Vaigot, P.3    Le Douarin, N.M.4
  • 42
    • 0029863673 scopus 로고    scopus 로고
    • Distinct stages of melanocyte differentiation revealed by analysis of nonuniform pigmentation patterns
    • Yoshida H, Kunisada T, Kusakabe M, Nishikawa S, Nishikawa SI (1996) Distinct stages of melanocyte differentiation revealed by analysis of nonuniform pigmentation patterns. Development 122:1207-1214
    • (1996) Development , vol.122 , pp. 1207-1214
    • Yoshida, H.1    Kunisada, T.2    Kusakabe, M.3    Nishikawa, S.4    Nishikawa, S.I.5
  • 43
    • 0036637695 scopus 로고    scopus 로고
    • Neural crest progenitors of the melanocyte lineage: Coat colour patterns revisited
    • Wilkie AL, Jordan SA, Jackson IJ (2002) Neural crest progenitors of the melanocyte lineage: coat colour patterns revisited. Development 129:3349-3357
    • (2002) Development , vol.129 , pp. 3349-3357
    • Wilkie, A.L.1    Jordan, S.A.2    Jackson, I.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.