学术探索
学术期刊
新闻热点
数据分析
智能评审

Genetics of craniofacial development and malformation

被引：291
作者：
Wilkie, AOM
Morriss-Kay, GM
机构：
[1] Univ Oxford, Weatherall Inst Mol Med, Oxford OX3 9DS, England
[2] Univ Oxford, Dept Human Anat & Genet, Oxford OX1 3QX, England
来源：
NATURE REVIEWS GENETICS | 2001年 / 2卷 / 06期
关键词：
D O I：
10.1038/35076601
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
The head is anatomically the most sophisticated part of the body and its evolution was fundamental to the origin of vertebrates; understanding its development is a formidable problem in biology. A synthesis of embryology, evolution and mouse genetics is shaping our understanding of head development and in this review we discuss its application to studies of human craniofacial malformations. Many of these disorders have their origins in specific embryological processes, including abnormalities of brain patterning, of the migration and fusion of tissues in the face, and of bone differentiation in the skull vault.
引用
收藏
页码：458 / 468
页数：11
相关论文
共 150 条
  • [1] A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family
    Abdelhak, S
    Kalatzis, V
    Heilig, R
    Compain, S
    Samson, D
    Vincent, C
    Weil, D
    Cruaud, C
    Sahly, I
    Leibovici, M
    BitnerGlindzicz, M
    Francis, M
    Lacombe, D
    Vigneron, J
    Charachon, R
    Boven, K
    Bedbeder, P
    VanRegemorter, N
    Weissenbach, J
    Petit, C
    [J]. NATURE GENETICS, 1997, 15 (02) : 157 - 164
  • [2] THE ORIGIN AND EARLY DIVERSIFICATION OF TETRAPODS
    AHLBERG, PE
    MILNER, AR
    [J]. NATURE, 1994, 368 (6471) : 507 - 514
  • [3] Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand
    Anderson, J
    Burns, HD
    Enriquez-Harris, P
    Wilkie, AOM
    Heath, JK
    [J]. HUMAN MOLECULAR GENETICS, 1998, 7 (09) : 1475 - 1483
  • [4] Barrow JR, 1999, DEVELOPMENT, V126, P5011
  • [5] Axis development and early asymmetry in mammals
    Beddington, RSP
    Robertson, EJ
    [J]. CELL, 1999, 96 (02) : 195 - 209
  • [6] 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
    [J]. NATURE GENETICS, 1996, 14 (03) : 353 - 356
  • [7] Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
    Bellus, GA
    Gaudenz, K
    Zackai, EH
    Clarke, LA
    Szabo, J
    Francomano, CA
    Muenke, M
    [J]. NATURE GENETICS, 1996, 14 (02) : 174 - 176
  • [8] The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome
    Bourgeois, P
    Bolcato-Bellemin, AL
    Danse, JM
    Bloch-Zupan, A
    Yoshiba, K
    Stoetzel, C
    Perrin-Schmitt, F
    [J]. HUMAN MOLECULAR GENETICS, 1998, 7 (06) : 945 - 957
  • [9] Brand M, 1996, DEVELOPMENT, V123, P129
  • [10] A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality - and tolerance of segmental aneuploidy - in humans
    Brewer, C
    Holloway, S
    Zawalnyski, P
    Schinzel, A
    FitzPatrick, D
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (06) : 1702 - 1708
12345678910