Interaction Between a Chromosome 10 RET Enhancer and Chromosome 21 in the Down Syndrome-Hirschsprung Disease Association
作者： Stacey Arnold , Anna Pelet , Jeanne Amiel , Salud Borrego , Robert Hofstra
DOI: 10.1002/HUMU.20944
关键词: Molecular biology 、 Chromosome 、 Proto-Oncogene Proteins c-ret 、 Down syndrome 、 Population 、 Genetics 、 Allele frequency 、 Nondisjunction 、 Chromosome 21 、 Gene dosage 、 Biology
摘要: Individuals with Down syndrome (DS) display a 40‐fold greater risk of Hirschsprung disease (HSCR) than the general population of newborns implicating chromosome 21 in HSCR …
core.ac.uk
hku.hk
elsevier.com
sci-hub.se 参考文章(15)
R Charles Scriver, The Metabolic and Molecular Bases of Inherited Disease ,(1995)
Charles J. Epstein, The consequences of chromosome imbalance. Principles, mechanisms and models. The consequences of chromosome imbalance. Principles, mechanisms and models.. ,(1986) , 10.1017/CBO9780511529702
Jean-Maurice Delabar, Didier Theophile, Zohra Rahmani, Zoubida Chettouh, Jean-Louis Blouin, Marguerite Prieur, Bernard Noel, Pierre-Marie Sinet, Molecular mapping of twenty-four features of Down syndrome on chromosome 21. European Journal of Human Genetics. ,vol. 1, pp. 114- 124 ,(1993) , 10.1159/000472398
L. de Pontual, A. Pelet, M. Clement-Ziza, D. Trochet, S.E. Antonarakis, T. Attie-Bitach, P.L. Beales, J.-L. Blouin, F. Dastot-Le Moal, H. Dollfus, M. Goossens, N. Katsanis, R. Touraine, J. Feingold, A. Munnich, S. Lyonnet, J. Amiel, Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease Human Mutation. ,vol. 28, pp. 790- 796 ,(2007) , 10.1002/HUMU.20517
Stacey Bolk Gabriel, Rémi Salomon, Anna Pelet, Misha Angrist, Jeanne Amiel, Myriam Fornage, Tania Attié-Bitach, Jane M Olson, Robert Hofstra, Charles Buys, Julie Steffann, Arnold Munnich, Stanislas Lyonnet, Aravinda Chakravarti, None, Segregation at three loci explains familial and population risk in Hirschsprung disease Nature Genetics. ,vol. 31, pp. 89- 93 ,(2002) , 10.1038/NG868
Aravinda Chakravarti, Susan A. Slaugenhaupt, Methods for studying recombination on chromosomes that undergo nondisjunction. Genomics. ,vol. 1, pp. 35- 42 ,(1987) , 10.1016/0888-7543(87)90102-9
K. E. Wisniewski, H. M. Wisniewski, G. Y. Wen, Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome. Annals of Neurology. ,vol. 17, pp. 278- 282 ,(1985) , 10.1002/ANA.410170310
Melvin G. McInnis, Aravinda Chakravarti, Jillian Blaschak, Michael B. Petersen, Vikram Sharma, Dimitrios Avramopoulos, Jean-Louis Blouin, Ulrich König, Christina Brahe, Tara Cox Matise, Andrew C. Warren, C.Conover Talbot, Christine Van Broeckhoven, Michael Litt, Stylianos E. Antonarakis, A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics. ,vol. 16, pp. 562- 571 ,(1993) , 10.1006/GENO.1993.1231
Joseph R. Arron, Monte M. Winslow, Alberto Polleri, Ching-Pin Chang, Hai Wu, Xin Gao, Joel R. Neilson, Lei Chen, Jeremy J. Heit, Seung K. Kim, Nobuyuki Yamasaki, Tsuyoshi Miyakawa, Uta Francke, Isabella A. Graef, Gerald R. Crabtree, NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21 Nature. ,vol. 441, pp. 595- 600 ,(2006) , 10.1038/NATURE04678
A.S. MCCALLION, E.S. EMISON, C.S. KASHUK, R.T. BUSH, M. KENTON, M.M. CARRASQUILLO, K.W. JONES, G.C. KENNEDY, M.E. PORTNOY, E.D. GREEN, A. CHAKRAVARTI, Genomic variation in multigenic traits: Hirschsprung disease. Cold Spring Harbor Symposia on Quantitative Biology. ,vol. 68, pp. 373- 381 ,(2003) , 10.1101/SQB.2003.68.373