140 related articles for article (PubMed ID: 19787799)
1. 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. PubMed ID: 19787799
[TBL] [Abstract][Full Text] [Related]
2. Combined deficiency of coagulation factors V and VIII: an update.
Zheng C; Zhang B
Semin Thromb Hemost; 2013 Sep; 39(6):613-20. PubMed ID: 23852824
[TBL] [Abstract][Full Text] [Related]
3. 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; 107(5):1903-7. PubMed ID: 16304051
[TBL] [Abstract][Full Text] [Related]
4. 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; 111(12):5592-600. PubMed ID: 18391077
[TBL] [Abstract][Full Text] [Related]
5. Recent developments in the understanding of the combined deficiency of FV and FVIII.
Zhang B
Br J Haematol; 2009 Apr; 145(1):15-23. PubMed ID: 19183188
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 17610559
[TBL] [Abstract][Full Text] [Related]
7. Structural characterization of carbohydrate binding by LMAN1 protein provides new insight into the endoplasmic reticulum export of factors V (FV) and VIII (FVIII).
Zheng C; Page RC; Das V; Nix JC; Wigren E; Misra S; Zhang B
J Biol Chem; 2013 Jul; 288(28):20499-509. PubMed ID: 23709226
[TBL] [Abstract][Full Text] [Related]
8. Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency.
Abdallah HE; Gouider E; Amor MB; Jlizi A; Meddeb B; Elgaaied A
Haemophilia; 2010 Sep; 16(5):801-4. PubMed ID: 20491958
[TBL] [Abstract][Full Text] [Related]
9. 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; 115(5):1081-7. PubMed ID: 20007547
[TBL] [Abstract][Full Text] [Related]
10. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.
Zhang B; Cunningham MA; Nichols WC; Bernat JA; Seligsohn U; Pipe SW; McVey JH; Schulte-Overberg U; de Bosch NB; Ruiz-Saez A; White GC; Tuddenham EG; Kaufman RJ; Ginsburg D
Nat Genet; 2003 Jun; 34(2):220-5. PubMed ID: 12717434
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 16044454
[TBL] [Abstract][Full Text] [Related]
12. 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; 584(5):878-82. PubMed ID: 20138881
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 18685427
[TBL] [Abstract][Full Text] [Related]
14. Combined FV and FVIII deficiency.
Spreafico M; Peyvandi F
Haemophilia; 2008 Nov; 14(6):1201-8. PubMed ID: 19141160
[TBL] [Abstract][Full Text] [Related]
15. Combined Factor V and Factor VIII Deficiency.
Spreafico M; Peyvandi F
Semin Thromb Hemost; 2009 Jun; 35(4):390-9. PubMed ID: 19598067
[TBL] [Abstract][Full Text] [Related]
16. Separate roles of LMAN1 and MCFD2 in ER-to-Golgi trafficking of FV and FVIII.
Zhang Y; Liu Z; Zhang B
Blood Adv; 2023 Apr; 7(7):1286-1296. PubMed ID: 36490287
[TBL] [Abstract][Full Text] [Related]
17. Molecular basis of LMAN1 in coordinating LMAN1-MCFD2 cargo receptor formation and ER-to-Golgi transport of FV/FVIII.
Zheng C; Liu HH; Yuan S; Zhou J; Zhang B
Blood; 2010 Dec; 116(25):5698-706. PubMed ID: 20817851
[TBL] [Abstract][Full Text] [Related]
18. Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family.
Suzuki S; Nakamura Y; Suzuki N; Yamazaki T; Takagi Y; Tamura S; Takagi A; Kanematsu T; Matsushita T; Kojima T
Haemophilia; 2018 Jan; 24(1):e13-e16. PubMed ID: 29082580
[No Abstract] [Full Text] [Related]
19. [Combined deficiency of factors V and VIII caused by a novel compound heterozygous mutation of gene Lman1].
Ge J; Xue F; Gu DS; DU WT; Zhao HF; Sui T; Li HY; Ma L; Zhang L; Yang RC
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2010 Feb; 18(1):185-90. PubMed ID: 20137144
[TBL] [Abstract][Full Text] [Related]
20. The sugar-binding ability of ERGIC-53 is enhanced by its interaction with MCFD2.
Kawasaki N; Ichikawa Y; Matsuo I; Totani K; Matsumoto N; Ito Y; Yamamoto K
Blood; 2008 Feb; 111(4):1972-9. PubMed ID: 18056485
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
