Compacting the heart with Notch.
作者： Chaitali Misra , Vidu Garg
DOI: 10.1038/NM.3071
关键词: Cardiomyopathy 、 Genetic heterogeneity 、 Notch signaling pathway 、 Genetics 、 Biology 、 Disease 、 Left ventricular noncompaction 、 Phenotype 、 Ubiquitin ligase
摘要: Left ventricular noncompaction (LVNC) cardiomyopathy is a clinically and genetically heterogeneous disease that can be associated with substantial cardiovascular morbidity mortality. A new study shows mice myocardial deletion of Mib1, which encodes ubiquitin ligase in the Notch signaling pathway, have LVNC phenotypes identifies MIB1 mutations humans (pages 193–201).
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Weinian Shou, Bahman Aghdasi, Dawna L. Armstrong, Qiuxia Guo, Shideng Bao, Min-Ji Charng, Lawrence M. Mathews, Michael D. Schneider, Susan L. Hamilton, Martin M. Matzuk, Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12 Nature. ,vol. 391, pp. 489- 492 ,(1998) , 10.1038/35146
Douglas R. Green, Means to an end : apoptosis and other cell death mechanisms Published in <b>2011</b> in Cold Spring Harbor NY) by Cold Spring Harbor laboratory press. ,(2011)
Joshua J. Blinder, Hugo R. Martinez, William J. Craigen, John Belmont, Ricardo H. Pignatelli, John L. Jefferies, Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion American Journal of Medical Genetics Part A. ,vol. 155, pp. 2215- 2220 ,(2011) , 10.1002/AJMG.A.34129
T K Chin, J K Perloff, R G Williams, K Jue, R Mohrmann, Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation. ,vol. 82, pp. 507- 513 ,(1990) , 10.1161/01.CIR.82.2.507
Guillermo Luxán, Jesús C Casanova, Beatriz Martínez-Poveda, Belén Prados, Gaetano D'Amato, Donal MacGrogan, Alvaro Gonzalez-Rajal, David Dobarro, Carlos Torroja, Fernando Martinez, José Luis Izquierdo-García, Leticia Fernández-Friera, María Sabater-Molina, Young-Y Kong, Gonzalo Pizarro, Borja Ibañez, Constancio Medrano, Pablo García-Pavía, Juan R Gimeno, Lorenzo Monserrat, Luis J Jiménez-Borreguero, José Luis de la Pompa, Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy Nature Medicine. ,vol. 19, pp. 193- 201 ,(2013) , 10.1038/NM.3046
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
S. Sherlock, THE LIVER IN HEART FAILURE RELATION OF ANATOMICAL, FUNCTIONAL, AND CIRCULATORY CHANGES Heart. ,vol. 13, pp. 273- 293 ,(1951) , 10.1136/HRT.13.3.273
Raphael Kopan, Ma. Xenia G. Ilagan, The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism Cell. ,vol. 137, pp. 216- 233 ,(2009) , 10.1016/J.CELL.2009.03.045
Roland Le Borgne, Regulation of Notch signalling by endocytosis and endosomal sorting. Current Opinion in Cell Biology. ,vol. 18, pp. 213- 222 ,(2006) , 10.1016/J.CEB.2006.02.011
José Luis de la Pompa, Jonathan A. Epstein, Coordinating tissue interactions: Notch signaling in cardiac development and disease Developmental Cell. ,vol. 22, pp. 244- 254 ,(2012) , 10.1016/J.DEVCEL.2012.01.014