A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII.
作者信息
Zhu M, DAS V, Zheng C, Majumdar S, Zhang B
机构信息
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH Pediatric Hematology/Oncology, University of Mississippi Medical Center, Jackson, MS, USA.
出版信息
J Thromb Haemost. 2012 Nov;10(11):2407-9. doi: 10.1111/jth.12002.
Abstract
摘要
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1
Point mutations regarded as missense mutations cause splicing defects in the factor XI gene.
J Thromb Haemost. 2011 Oct;9(10):1977-84. doi: 10.1111/j.1538-7836.2011.04426.x.
2
Molecular basis of LMAN1 in coordinating LMAN1-MCFD2 cargo receptor formation and ER-to-Golgi transport of FV/FVIII.
Blood. 2010 Dec 16;116(25):5698-706. doi: 10.1182/blood-2010-04-278325. Epub 2010 Sep 3.
3
EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII.
Blood. 2010 Feb 4;115(5):1081-7. doi: 10.1182/blood-2009-09-241877. Epub 2009 Dec 9.
4
Recent developments in the understanding of the combined deficiency of FV and FVIII.
Br J Haematol. 2009 Apr;145(1):15-23. doi: 10.1111/j.1365-2141.2008.07559.x. Epub 2009 Jan 16.
5
Combined FV and FVIII deficiency.
Haemophilia. 2008 Nov;14(6):1201-8. doi: 10.1111/j.1365-2516.2008.01845.x.
6
High frequency of LMAN1 abnormalities in colorectal tumors with microsatellite instability.
Cancer Res. 2009 Jan 1;69(1):292-9. doi: 10.1158/0008-5472.CAN-08-3314.
7
Receptor-mediated protein transport in the early secretory pathway.
Trends Biochem Sci. 2007 Aug;32(8):381-8. doi: 10.1016/j.tibs.2007.06.006. Epub 2007 Jul 6.
8
Hearing silence: non-neutral evolution at synonymous sites in mammals.
Nat Rev Genet. 2006 Feb;7(2):98-108. doi: 10.1038/nrg1770.
9
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Blood. 2006 Mar 1;107(5):1903-7. doi: 10.1182/blood-2005-09-3620. Epub 2005 Nov 22.
10
LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway.
J Biol Chem. 2005 Jul 8;280(27):25881-6. doi: 10.1074/jbc.M502160200. Epub 2005 May 10.
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