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Items: 1 to 20 of 151

1.

The missense Thr211Pro mutation in the factor X activation peptide of a bleeding patient causes molecular defect in the clotting cascade.

Ding Q, Shen Y, Yang L, Wang X, Rezaie AR.

Thromb Haemost. 2013 Jul;110(1):53-61. doi: 10.1160/TH13-03-0184. Epub 2013 May 16.

2.

Molecular basis of the clotting defect in a bleeding patient missing the Asp-185 codon in the factor X gene.

Lu Q, Yang L, Manithody C, Wang X, Rezaie AR.

Thromb Res. 2014 Nov;134(5):1103-9. doi: 10.1016/j.thromres.2014.08.004. Epub 2014 Aug 20.

3.

Reduced activation of the Gla19Ala FX variant via the extrinsic coagulation pathway results in symptomatic CRMred FX deficiency.

Pinotti M, Marchetti G, Baroni M, Cinotti F, Morfini M, Bernardi F.

Thromb Haemost. 2002 Aug;88(2):236-41.

PMID:
12195695
4.

Molecular defect (Gla+14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X "Vorarlberg").

Watzke HH, Lechner K, Roberts HR, Reddy SV, Welsch DJ, Friedman P, Mahr G, Jagadeeswaran P, Monroe DM, High KA.

J Biol Chem. 1990 Jul 15;265(20):11982-9.

5.

Asymmetric processing of mutant factor X Arg386Cys reveals differences between intrinsic and extrinsic pathway activation.

Baroni M, Pavani G, Pinotti M, Branchini A, Bernardi F, Camire RM.

Biochim Biophys Acta. 2015 Oct;1854(10 Pt A):1351-6. doi: 10.1016/j.bbapap.2015.05.012. Epub 2015 May 23.

PMID:
26012870
6.

Characterization of a homozygous Gly11Val mutation in the Gla domain of coagulation factor X.

Chafa O, Tagzirt M, Tapon-Bretaudière J, Reghis A, Fischer AM, LeBonniec BF.

Thromb Res. 2009 May;124(1):144-8. doi: 10.1016/j.thromres.2008.11.018. Epub 2009 Jan 10.

PMID:
19135706
7.

Functional role of O-linked and N-linked glycosylation sites present on the activation peptide of factor X.

Yang L, Manithody C, Rezaie AR.

J Thromb Haemost. 2009 Oct;7(10):1696-702. doi: 10.1111/j.1538-7836.2009.03578.x. Epub 2009 Aug 19.

8.

Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly.

Al-Hilali A, Wulff K, Abdel-Razeq H, Saud KA, Al-Gaili F, Herrmann FH.

Thromb Haemost. 2007 Apr;97(4):542-5.

PMID:
17393015
9.

Six novel missense mutations causing factor X deficiency and application of thrombin generation test.

Liang Q, Chen Q, Ding Q, Wu F, Wang X, Xi X, Wang H.

Thromb Res. 2013 Jun;131(6):554-9. doi: 10.1016/j.thromres.2013.04.014. Epub 2013 May 7.

PMID:
23664564
10.

The impact of Glu102Lys on the factor X function in a patient with a doubly homozygous factor X deficiency (Gla14Lys and Glu102Lys).

Forberg E, Huhmann I, Jimenez-Boj E, Watzke HH.

Thromb Haemost. 2000 Feb;83(2):234-8.

PMID:
10739379
11.

Severe factor X deficiency in three unrelated Palestinian patients is caused by homozygosity for the mutation c302delG-correlation with thrombin generation and thromboelastometry.

Livnat T, Shenkman B, Kenet G, Tamarin I, Gillis S, Varon D, Iijima K, Zivelin A, Salomon O.

Blood Coagul Fibrinolysis. 2011 Dec;22(8):673-9. doi: 10.1097/MBC.0b013e32834ad785.

PMID:
22008904
12.

[Homozygous missense mutation p.Val298Met of F10 gene causing hereditary coagulation factor X deficiency in a Chinese pedigree].

Jin Y, Hao X, Cheng X, Yang L, Chen Y, Xie H, Wang Y, Wang M.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Jun;33(3):296-9. doi: 10.3760/cma.j.issn.1003-9406.2016.03.004. Chinese.

PMID:
27264807
13.
14.

Complex history of the discovery and characterization of congenital factor X deficiency.

Girolami A, Cosi E, Sambado L, Girolami B, Randi ML.

Semin Thromb Hemost. 2015 Jun;41(4):359-65. doi: 10.1055/s-0034-1544000. Epub 2015 Apr 14. Review.

PMID:
25875733
15.

Directed glycosylation of human coagulation factor X at residue 333. Insight into factor Va-dependent prothrombin catalysis.

Cook BC, Rudolph AE, Kurumbail RG, Porche-Sorbet R, Miletich JP.

J Biol Chem. 2000 Dec 8;275(49):38774-9.

16.

Factor XSanto Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion.

Watzke HH, Wallmark A, Hamaguchi N, Giardina P, Stafford DW, High KA.

J Clin Invest. 1991 Nov;88(5):1685-9.

17.

Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency.

Pinotti M, Camire RM, Baroni M, Rajab A, Marchetti G, Bernardi F.

Thromb Haemost. 2003 Feb;89(2):243-8.

PMID:
12574802
18.

Factor X Shanghai and disruption of translocation to the endoplasmic reticulum.

Wang WB, Fu QH, Yin J, Wu WM, Ding QL, Zhou RF, Hu YQ, Wang XF, Wang ZY, Wang HL.

Haematologica. 2005 Dec;90(12):1659-64.

19.

A novel Ala275Val mutation in factor X gene influences its structural compatibility and impairs intracellular trafficking and coagulant activity.

Sun N, Chen Y, Peng H, Luo Y, Zhang G.

Thromb Res. 2016 Feb;138:108-113. doi: 10.1016/j.thromres.2015.12.009. Epub 2015 Dec 15.

20.

A novel type I factor X variant (factor X Cys350Phe) due to loss of a disulfide bond in the catalytic domain.

Vianello F, Lombardi AM, Bello FD, Palù G, Zanon E, Girolami A.

Blood Coagul Fibrinolysis. 2003 Jun;14(4):401-5.

PMID:
12945883

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