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Items: 1 to 20 of 121

1.

Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency.

Abdallah HE, Gouider E, Stambouli N, Ben Amor M, Jlizi A, Belhedi N, Sassi R, Khodjetelkhil H, Meddeb B, Hafsia R, Hamza A, Elgaaied AB.

Blood Cells Mol Dis. 2010 Mar-Apr;44(2):120-3. doi: 10.1016/j.bcmd.2009.11.004. Epub 2009 Dec 9. No abstract available.

PMID:
20004600
2.

Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII.

Wigren E, Bourhis JM, Kursula I, Guy JE, Lindqvist Y.

FEBS Lett. 2010 Mar 5;584(5):878-82. doi: 10.1016/j.febslet.2010.02.009. Epub 2010 Feb 9.

3.

Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency.

Nyfeler B, Kamiya Y, Boehlen F, Yamamoto K, Kato K, de Moerloose P, Hauri HP, Neerman-Arbez M.

Blood. 2008 Feb 1;111(3):1299-301. Epub 2007 Oct 30.

4.

The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene.

Ivaskevicius V, Windyga J, Baran B, Bykowska K, Daugela L, Watzka M, Seifried E, Oldenburg J.

Blood Coagul Fibrinolysis. 2008 Sep;19(6):531-534. doi: 10.1097/MBC.0b013e3283061103.

PMID:
18685427
5.

Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII.

Elmahmoudi H, Wigren E, Laatiri A, Jlizi A, Elgaaied A, Gouider E, Lindqvist Y.

Haemophilia. 2011 Sep;17(5):e923-7. doi: 10.1111/j.1365-2516.2011.02529.x. Epub 2011 Apr 15.

PMID:
21492322
6.

Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India.

Jayandharan G, Spreafico M, Viswabandya A, Chandy M, Srivastava A, Peyvandi F.

Haemophilia. 2007 Jul;13(4):413-9.

PMID:
17610559
7.

A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII.

Yamada T, Fujimori Y, Suzuki A, Miyawaki Y, Takagi A, Murate T, Sano M, Matsushita T, Saito H, Kojima T.

Am J Hematol. 2009 Nov;84(11):738-42. doi: 10.1002/ajh.21532.

8.

New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2.

Guy JE, Wigren E, Svärd M, Härd T, Lindqvist Y.

J Mol Biol. 2008 Sep 12;381(4):941-55. doi: 10.1016/j.jmb.2008.06.042. Epub 2008 Jun 20.

PMID:
18590741
9.

Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII.

Mohanty D, Ghosh K, Shetty S, Spreafico M, Garagiola I, Peyvandi F.

Am J Hematol. 2005 Aug;79(4):262-6.

10.

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D.

Blood. 2008 Jun 15;111(12):5592-600. doi: 10.1182/blood-2007-10-113951. Epub 2008 Apr 7.

11.

Combined Factor V and Factor VIII Deficiency.

Spreafico M, Peyvandi F.

Semin Thromb Hemost. 2009 Jun;35(4):390-9. doi: 10.1055/s-0029-1225761. Epub 2009 Jul 13. Review.

PMID:
19598067
12.

Combined deficiency of coagulation factors V and VIII: an update.

Zheng C, Zhang B.

Semin Thromb Hemost. 2013 Sep;39(6):613-20. doi: 10.1055/s-0033-1349223. Epub 2013 Jul 12. Review.

13.

Structural basis for the cooperative interplay between the two causative gene products of combined factor V and factor VIII deficiency.

Nishio M, Kamiya Y, Mizushima T, Wakatsuki S, Sasakawa H, Yamamoto K, Uchiyama S, Noda M, McKay AR, Fukui K, Hauri HP, Kato K.

Proc Natl Acad Sci U S A. 2010 Mar 2;107(9):4034-9. doi: 10.1073/pnas.0908526107. Epub 2010 Feb 8.

14.

Combined FV and FVIII deficiency.

Spreafico M, Peyvandi F.

Haemophilia. 2008 Nov;14(6):1201-8. doi: 10.1111/j.1365-2516.2008.01845.x. Review.

PMID:
19141160
15.

Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency.

Hejer E, Adnen LM, Asma J, Ibtihel M, Benammar-Elgaaied A, Gouider E.

Tunis Med. 2012 Apr;90(4):343-4. No abstract available.

16.

[Hereditary deficiencies of blood coagulation factors: from the viewpoints of intracellular transport and quality control].

Tokunaga F.

Tanpakushitsu Kakusan Koso. 2004 May;49(7 Suppl):1135. Review. Japanese. No abstract available.

PMID:
15168550
17.

Combined factor V and factor VIII deficiency: a report of a case, genetic analysis, and response to desmopressin acetate.

Chapin J, Cardi D, Gibb C, Laurence J.

Clin Adv Hematol Oncol. 2012 Jul;10(7):472-4. No abstract available.

PMID:
22895291
18.

EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII.

Zheng C, Liu HH, Zhou J, Zhang B.

Blood. 2010 Feb 4;115(5):1081-7. doi: 10.1182/blood-2009-09-241877. Epub 2009 Dec 9.

19.

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

Zhang B, McGee B, Yamaoka JS, Guglielmone H, Downes KA, Minoldo S, Jarchum G, Peyvandi F, de Bosch NB, Ruiz-Saez A, Chatelain B, Olpinski M, Bockenstedt P, Sperl W, Kaufman RJ, Nichols WC, Tuddenham EG, Ginsburg D.

Blood. 2006 Mar 1;107(5):1903-7. Epub 2005 Nov 22.

20.

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