Somatic mutation analysis in NF1 cafe au lait spots reveals two NF1 hits in the melanocytes

被引：77
|
作者：
De Schepper, Sofie [1 ]
Maertens, Ophelia [2 ]
Callens, Tom [3 ]
Naeyaert, Jean-Marie [1 ]
Lambert, Jo [1 ]
Messiaen, Ludwine [3 ]
机构：
[1] State Univ Ghent Hosp, Dept Dermatol, B-9000 Ghent, Belgium
[2] State Univ Ghent Hosp, Ctr Med Genet, B-9000 Ghent, Belgium
[3] Univ Alabama, Dept Genet, Med Genom Lab, Birmingham, AL USA
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2008年 / 128卷 / 04期
关键词：
D O I：
10.1038/sj.jid.5701095
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：1050 / 1053
页数：4
相关论文
共 50 条
  • [1] Second hit mutation analysis in melanocytes, keratinocytes and fibroblasts obtained from NF1 cafe-au-lait macules reveals presence of two NF1 hits in the melanocytes
    De Schepper, S.
    Callens, T.
    Maertens, O.
    Naeyaert, J. M.
    Lambert, J.
    Messiaen, L.
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 : S82 - S82
  • [2] Neurofibromatosis type 1 (NF1) gene: Beyond cafe au lait spots and dermal neurofibromas
    Peltonen, Sirkku
    Kallionpaa, Roope A.
    Peltonen, Juha
    [J]. EXPERIMENTAL DERMATOLOGY, 2017, 26 (07) : 645 - 648
  • [3] Independent NF1 mutations underlie cafe-au-lait macule development in a woman with segmental NF1
    Freret, Morgan E.
    Anastasaki, Corina
    Gutmann, David H.
    [J]. NEUROLOGY-GENETICS, 2018, 4 (04)
  • [4] NF1 Somatic Mutation in Dystrophic Scoliosis
    Rebecca L. Margraf
    Chad VanSant-Webb
    Rong Mao
    David H. Viskochil
    John Carey
    Heather Hanson
    Jacques D’Astous
    Allie Grossmann
    David A. Stevenson
    [J]. Journal of Molecular Neuroscience, 2019, 68 : 11 - 18
  • [5] NF1 Somatic Mutation in Dystrophic Scoliosis
    Margraf, Rebecca L.
    VanSant-Webb, Chad
    Mao, Rong
    Viskochil, David H.
    Carey, John
    Hanson, Heather
    D'Astous, Jacques
    Grossmann, Allie
    Stevenson, David A.
    [J]. JOURNAL OF MOLECULAR NEUROSCIENCE, 2019, 68 (01) : 11 - 18
  • [6] 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
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1997, 237 (01) : 138 - 141
  • [7] Potentials of artocarpin in the treatment of Cafe-Au-Lait macules in neurofibromatosis type 1 (NF1) disease
    Yamaguchi, Kazuki
    Feril, Loreto B., Jr.
    Matsuo, Miki
    Furumura, Minao
    Nakayama, Juichiro
    [J]. PIGMENT CELL & MELANOMA RESEARCH, 2008, 21 (02) : 320 - 320
  • [8] Large congenital atypical cafe-au-lait macules suggest superimposed mosaicism in NF1
    Happle, Rudolf
    [J]. JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2021, 19 (06): : 912 - 912
  • [9] Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene
    Kaufmann, D
    Müller, R
    Bartelt, B
    Wolf, M
    Kunzi-Rapp, K
    Hanemann, CO
    Fahsold, R
    Hein, C
    Vogel, W
    Assum, G
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) : 1395 - 1400
  • [10] RELATIONSHIP BETWEEN CAFE-AU-LAIT SPOTS AS THE ONLY SYMPTOM AND PERIPHERAL NEUROFIBROMATOSIS (NF1) - A FOLLOW-UP-STUDY
    FOIS, A
    CALISTRI, L
    BALESTRI, P
    VIVARELLI, R
    BARTALINI, G
    MANCINI, L
    BERARDI, A
    VANNI, M
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1993, 152 (06) : 500 - 504
12345