Associated Papers
Separate roles of LMAN1 and MCFD2 in ER-to-Golgi trafficking of FV and FVIII.
Zhang Y et al.
Blood Advances, 2023
Combined FV and FVIII deficiency (F5F8D) in a Chinese family with a novel missense mutation in MCFD2 gene.
Wang A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
Kulkarni BP et al.
Plos One, 2014
Combined deficiency of coagulation factors V and VIII: an update.
Zheng C et al.
Seminars in Thrombosis and Hemostasis, 2013
Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency.
Hejer E et al.
La Tunisie Medicale, 2012
Unveiling the unfolding pathway of F5F8D disorder-associated D81H/V100D mutant of MCFD2 via multiple molecular dynamics simulations.
Hamza A et al.
Journal of Biomolecular Structure & Dynamics, 2012
Molecular basis of LMAN1 in coordinating LMAN1-MCFD2 cargo receptor formation and ER-to-Golgi transport of FV/FVIII.
Zheng C et al.
Blood, 2010
Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency.
Abdallah HE et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII.
Wigren E et al.
Febs Letters, 2010
Structural basis for the cooperative interplay between the two causative gene products of combined factor V and factor VIII deficiency.
Nishio M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII.
Zheng C et al.
Blood, 2010
Recent developments in the understanding of the combined deficiency of FV and FVIII.
Zhang B
British Journal of Haematology, 2009
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
Zhang B et al.
Blood, 2008
Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India.
Jayandharan G et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007
[Management of cesarean section under replacement therapy with factor VIII concentrates in a pregnant case with congenital combined deficiency of factor V and factor VIII].
Ueno H et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1991
[Case report of congenital deficiency of factor V and factor VIII].
Vujaklija-Stipanović K et al.
Bilten Za Hematologiju I Transfuziju, 1979
Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency.
Abdallah HE et al.
Blood Cells, Molecules & Diseases, 0