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 37 条
  • [31] THE PRODUCT OF HEDGEHOG AUTOPROTEOLYTIC CLEAVAGE ACTIVE IN LOCAL AND LONG-RANGE SIGNALING
    PORTER, JA
    VONKESSLER, DP
    EKKER, SC
    YOUNG, KE
    LEE, JJ
    MOSES, K
    BEACHY, PA
    [J]. NATURE, 1995, 374 (6520) : 363 - 366
  • [32] SONIC-HEDGEHOG MEDIATES THE POLARIZING ACTIVITY OF THE ZPA
    RIDDLE, RD
    JOHNSON, RL
    LAUFER, E
    TABIN, C
    [J]. CELL, 1993, 75 (07) : 1401 - 1416
  • [33] FLOOR PLATE AND MOTOR-NEURON INDUCTION BY DIFFERENT CONCENTRATIONS OF THE AMINO-TERMINAL CLEAVAGE PRODUCT OF SONIC HEDGEHOG AUTOPROTEOLYSIS
    ROELINK, H
    PORTER, JA
    CHIANG, C
    TANABE, Y
    CHANG, DT
    BEACHY, PA
    JESSELL, TM
    [J]. CELL, 1995, 81 (03) : 445 - 455
  • [34] FLOOR PLATE AND MOTOR-NEURON INDUCTION BY VHH-1, A VERTEBRATE HOMOLOG OF HEDGEHOG EXPRESSED BY THE NOTOCHORD
    ROELINK, H
    AUGSBURGER, A
    HEEMSKERK, J
    KORZH, V
    NORLIN, S
    ALTABA, ARI
    TANABE, Y
    PLACZEK, M
    EDLUND, T
    JESSELL, TM
    DODD, J
    [J]. CELL, 1994, 76 (04) : 761 - 775
  • [35] Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21
    Schell, U
    Wienberg, J
    Kohler, A
    BrayWard, P
    Ward, DE
    Wilson, WG
    Allen, WP
    Lebel, RR
    Sawyer, JR
    Campbell, PL
    Aughton, DJ
    Punnett, HH
    Lammer, EJ
    Kao, FT
    Ward, DC
    Muenke, M
    [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (02) : 223 - 229
  • [36] SCHULTEMERKER S, 1994, DEVELOPMENT, V120, P1009
  • [37] INDUCTION OF MOTOR-NEURONS BY SONIC HEDGEHOG IS INDEPENDENT OF FLOOR PLATE DIFFERENTIATION
    TANABE, Y
    ROELINK, H
    JESSELL, TM
    [J]. CURRENT BIOLOGY, 1995, 5 (06) : 651 - 658