Primary microcephaly:: microcephalin and ASPM determine the size of the human brain

被引:25
作者
Kumar, A [1 ]
Markandaya, M
Girimaji, SC
机构
[1] Indian Inst Sci, Dept Mol Reprod Dev & Genet, Bangalore 560012, Karnataka, India
[2] Natl Inst Mental Hlth & Neurosci, Dept Psychiat, Bangalore 560012, Karnataka, India
关键词
D O I
10.1007/BF02708369
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:629 / 632
页数:4
相关论文
共 11 条
[1]   ASPM is a major determinant of cerebral cortical size [J].
Bond, J ;
Roberts, E ;
Mochida, GH ;
Hampshire, DJ ;
Scott, S ;
Askham, JM ;
Springell, K ;
Mahadevan, M ;
Crow, YJ ;
Markham, AF ;
Walsh, CA ;
Woods, CG .
NATURE GENETICS, 2002, 32 (02) :316-320
[2]   The BRCA1 C-terminal domain: structure and function [J].
Huyton, T ;
Bates, PA ;
Zhang, XD ;
Sternberg, MJE ;
Freemont, PS .
MUTATION RESEARCH-DNA REPAIR, 2000, 460 (3-4) :319-332
[3]   Identification of microcephalin, a protein implicated in determining the size of the human brain [J].
Jackson, AP ;
Eastwood, H ;
Bell, SM ;
Adu, J ;
Toomes, C ;
Carr, IM ;
Roberts, E ;
Hampshire, DJ ;
Crow, YJ ;
Mighell, AJ ;
Karbani, G ;
Jafri, H ;
Rashid, Y ;
Mueller, RF ;
Markham, AF ;
Woods, CG .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (01) :136-142
[4]   Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter [J].
Jackson, AP ;
McHale, DP ;
Campbell, DA ;
Jafri, H ;
Rashid, Y ;
Mannan, J ;
Karbani, G ;
Corry, P ;
Levene, MI ;
Mueller, RF ;
Markham, AF ;
Lench, NJ ;
Woods, CG .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (02) :541-546
[5]   Primary autosomal recessive microcephaly:: MCPH5 maps to 1q25-q32 [J].
Jamieson, CR ;
Fryns, JP ;
Jacobs, J ;
Matthijs, G ;
Abramowicz, MJ .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) :1575-1577
[6]   Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15 [J].
Jamieson, CR ;
Govaerts, C ;
Abramowicz, MJ .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (05) :1465-1469
[7]   Molecular genetics of human microcephaly [J].
Mochida, GH ;
Walsh, CA .
CURRENT OPINION IN NEUROLOGY, 2001, 14 (02) :151-156
[8]   A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34 [J].
Moynihan, L ;
Jackson, AP ;
Roberts, E ;
Karbani, G ;
Lewis, I ;
Corry, P ;
Turner, G ;
Mueller, RF ;
Lench, NJ ;
Woods, CG .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (02) :724-727
[9]   A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31 [J].
Pattison, L ;
Crow, YJ ;
Deeble, VJ ;
Jackson, AP ;
Jafri, H ;
Rashid, Y ;
Roberts, E ;
Woods, CG .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) :1578-1580
[10]   The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2 [J].
Roberts, E ;
Jackson, AP ;
Carradice, AC ;
Deeble, VJ ;
Mannan, J ;
Rashid, Y ;
Jafri, H ;
McHale, DP ;
Markham, AF ;
Lench, NJ ;
Woods, CG .
EUROPEAN JOURNAL OF HUMAN GENETICS, 1999, 7 (07) :815-820