Mutations in NOTCH1 cause aortic valve disease

作者: Vidu Garg , Alecia N. Muth , Joshua F. Ransom , Marie K. Schluterman , Robert Barnes

DOI: 10.1038/NATURE03940

关键词:

摘要: … Here, we show that mutations in the signalling and transcriptional regulator NOTCH1 cause … , Notch1 transcripts were most abundant in the developing aortic valve of mice, and Notch1 …

参考文章(29)
Gary Struhl, Iva Greenwald, Presenilin is required for activity and nuclear access of Notch in Drosophila Nature. ,vol. 398, pp. 522- 525 ,(1999) , 10.1038/19091
Keith W. McLarren, Rita Lo, Diane Grbavec, Kannan Thirunavukkarasu, Gerard Karsenty, Stefano Stifani, The Mammalian Basic Helix Loop Helix Protein HES-1 Binds to and Modulates the Transactivating Function of the Runt-related Factor Cbfa1 Journal of Biological Chemistry. ,vol. 275, pp. 530- 538 ,(2000) , 10.1074/JBC.275.1.530
Nalini M. Rajamannan, Malayannan Subramaniam, Margaret Springett, Thomas C. Sebo, Marek Niekrasz, Joseph P. McConnell, Ravinder J. Singh, Neil J. Stone, Robert O. Bonow, Thomas C. Spelsberg, Atorvastatin Inhibits Hypercholesterolemia-Induced Cellular Proliferation and Bone Matrix Production in the Rabbit Aortic Valve Circulation. ,vol. 105, pp. 2660- 2665 ,(2002) , 10.1161/01.CIR.0000017435.87463.72
Vidu Garg, Irfan S. Kathiriya, Robert Barnes, Marie K. Schluterman, Isabelle N. King, Cheryl A. Butler, Caryn R. Rothrock, Reenu S. Eapen, Kayoko Hirayama-Yamada, Kunitaka Joo, Rumiko Matsuoka, Jonathan C. Cohen, Deepak Srivastava, GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 Nature. ,vol. 424, pp. 443- 447 ,(2003) , 10.1038/NATURE01827
Patricia Ducy, Rui Zhang, Valérie Geoffroy, Amy L Ridall, Gérard Karsenty, Osf2/Cbfa1: A Transcriptional Activator of Osteoblast Differentiation Cell. ,vol. 89, pp. 747- 754 ,(1997) , 10.1016/S0092-8674(00)80257-3
Gary Struhl, Atsuko Adachi, Nuclear Access and Action of Notch In Vivo Cell. ,vol. 93, pp. 649- 660 ,(1998) , 10.1016/S0092-8674(00)81193-9
Andrew P Weng, Adolfo A Ferrando, Woojoong Lee, John P Morris IV, Lewis B Silverman, Cheryll Sanchez-Irizarry, Stephen C Blacklow, A Thomas Look, Jon C Aster, Activating Mutations of NOTCH1 in Human T Cell Acute Lymphoblastic Leukemia Science. ,vol. 306, pp. 269- 271 ,(2004) , 10.1126/SCIENCE.1102160
Julien I.E Hoffman, Samuel Kaplan, The incidence of congenital heart disease Journal of the American College of Cardiology. ,vol. 39, pp. 1890- 1900 ,(2002) , 10.1016/S0735-1097(02)01886-7
Joel I. Brenner, Christopher A. Loffredo, Anand Chokkalingam, Anne M. Sill, Joann A. Boughman, Edward B. Clark, Janet Scheel, Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries American Journal of Medical Genetics Part A. ,vol. 124, pp. 225- 230 ,(2004) , 10.1002/AJMG.A.20366