Genomic imprinting - Disomy and disease resolved?

被引:14
作者
Hastle, N
机构
[1] the MRC Human Genetics Unit,
[2] Western General Hospital,undefined
关键词
D O I
10.1038/39732
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Beckwith-Wiedemann syndrome is a genetic disease that results in abnormal overgrowth of certain organs, thickening of long bones and other symptoms. New work shows that some of these symptoms arise because affected babies express two copies of the IGF2 gene. This complements studies showing that some of the other symptoms are caused by loss of function of the p57Kip2 protein. So we may soon have a complete picture of the interacting biological pathways that cause the syndrome.
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页码:785 / &
页数:2
相关论文
共 17 条
[1]  
Henry I(1991)undefined Nature 351 665-667
[2]  
Little M(1991)undefined Nature 351 609-610
[3]  
Van Heyningen V(1997)undefined Nature 389 809-815
[4]  
Hastie N(1995)undefined Nature 375 34-37
[5]  
Sun F-L(1990)undefined Nature 345 78-81
[6]  
Dean WL(1997)undefined Nature 387 151-158
[7]  
Kelsey G(undefined)undefined undefined undefined undefined-undefined
[8]  
Allen ND(undefined)undefined undefined undefined undefined-undefined
[9]  
Reik W(undefined)undefined undefined undefined undefined-undefined
[10]  
Leighton PA(undefined)undefined undefined undefined undefined-undefined