Mutations in the human Sonic hedgehog gene cause holoprosencephaly

被引:871
|
作者
Roessler, E
Belloni, E
Gaudenz, K
Jay, P
Berta, P
Scherer, SW
Tsui, LC
Muenke, M
机构
[1] UNIV PENN,CHILDRENS HOSP PHILADELPHIA,SCH MED,DIV HUMAN GENET & MOL BIOL,PHILADELPHIA,PA 19104
[2] UNIV PENN,SCH MED,DEPT PEDIAT,PHILADELPHIA,PA 19104
[3] UNIV PENN,SCH MED,DEPT GENET,PHILADELPHIA,PA 19104
[4] HOSP SICK CHILDREN,DEPT GENET,TORONTO,ON M5G 1X8,CANADA
[5] CTR RECH BIOCHIM MACROMOL,CNRS ERS 155,INSERM,U249,F-34033 MONTPELLIER,FRANCE
关键词
D O I
10.1038/ng1196-357
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:357 / 360
页数:4
相关论文
共 50 条
  • [1] The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly:: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
    Nanni, L
    Ming, JE
    Bocian, M
    Steinhaus, K
    Bianchi, DW
    de Die-Smulders, C
    Giannotti, A
    Imaizumi, K
    Jones, KL
    Del Campo, M
    Martin, RA
    Meinecke, P
    Pierpont, MEM
    Robin, NH
    Young, ID
    Roessler, E
    Muenke, M
    HUMAN MOLECULAR GENETICS, 1999, 8 (13) : 2479 - 2488
  • [2] Mutational and functional studies of the human Sonic Hedgehog gene as a cause for holoprosencephaly.
    Roessler, E
    Gaudenz, K
    Vargas, F
    Belloni, E
    Scherer, SW
    Tsui, LC
    Rao, L
    Golden, J
    Muenke, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A18 - A18
  • [3] Mutations in the C-terminal domain of sonic hedgehog cause holoprosencephaly
    Roessler, E
    Belloni, E
    Gaudenz, K
    Vargas, F
    Scherer, SW
    Tsui, LC
    Muenke, M
    HUMAN MOLECULAR GENETICS, 1997, 6 (11) : 1847 - 1853
  • [4] Mutational analysis of Sonic Hedgehog gene in human fetuses with holoprosencephaly
    Yoon, SH
    Kim, KR
    Shim, YH
    KOREAN JOURNAL OF GENETICS, 2004, 26 (04): : 373 - 378
  • [5] Functional characterization of sonic hedgehog mutations associated with holoprosencephaly
    Traiffort, E
    Dubourg, C
    Faure, H
    Rognan, D
    Odent, S
    Durou, MR
    David, V
    Ruat, M
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (41) : 42889 - 42897
  • [6] SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity
    Can Schell-Apacik
    Mariel Rivero
    Jessica L. Knepper
    Erich Roessler
    Maximilian Muenke
    Jeffrey E. Ming
    Human Genetics, 2003, 113 : 170 - 177
  • [7] SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity
    Schell-Apacik, C
    Rivero, M
    Knepper, JL
    Roessler, E
    Muenke, M
    Ming, JE
    HUMAN GENETICS, 2003, 113 (02) : 170 - 177
  • [8] The mutational spectrum of the Sonic Hedgehog gene in haloprosencephaly:: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
    Ming, JE
    Nanni, L
    Bocian, M
    Jones, KL
    Martin, RA
    Pierpont, MEM
    Roessler, E
    Muenke, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A6 - A6
  • [9] Expanding the Phenotypic Expression of Sonic Hedgehog Mutations Beyond Holoprosencephaly
    Kruszka, Paul
    Hart, Rachel A.
    Hadley, Donald W.
    Muenke, Maximilian
    Habal, Mutaz B.
    JOURNAL OF CRANIOFACIAL SURGERY, 2015, 26 (01) : 7 - 9
  • [10] Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
    Belloni, E
    Muenke, M
    Roessler, E
    Traverso, G
    SiegelBartelt, J
    Frumkin, A
    Mitchell, HF
    DonisKeller, H
    Helms, C
    Hing, AV
    Heng, HHQ
    Koop, B
    Martindale, D
    Rommens, JM
    Tsui, LC
    Scherer, SW
    NATURE GENETICS, 1996, 14 (03) : 353 - 356