Background Image
Table of Contents Table of Contents
Previous Page  39 / 210 Next Page
Information
Show Menu
Previous Page 39 / 210 Next Page
Page Background

Ponencias

39

Agradecimientos

Este trabajo se ha realizado gracias a financiación de los pro-

yectos PI15/00079 y CB15/00055, del ISCIII & FEDER; 19873/

GERM/15 Fundación Séneca; Sociedad Española de Hemostasia

y Trombosis, y el premio GATRA de Grifols.

Bibliografía

1. Nygaard KK, Brown GE. Essential thrombophilia: Report of five

cases. Archives of Internal Medicine 1937;59:82-106.

2. Jordan FLJ, Nandorff A. The Familial Tendency in Thrombo-embo-

lic Disease. Acta Medica Scandinavica 1956;156:267-75.

3. Egeberg O. Inherited antithrombin deficiency causing thrombophi-

lia. Thromb Diath Haemorrh 1965;13:516-30.

4. Souto JC, Almasy L, Borrell M, et al. Genetic susceptibility to

thrombosis and its relationship to physiological risk factors: the

GAIT study. Genetic Analysis of Idiopathic Thrombophilia. Am J

Hum Genet 2000;67:1452-9.

5. Zöller B, Li X, Sundquist J, et al.Age- and gender-specific familial ris-

ks for venous thromboembolism: a nationwide epidemiological study

based on hospitalizations in Sweden. Circulation 2011;124:1012-20.

6. Mateo J, Oliver A, Borrell M, et al. Laboratory evaluation and cli-

nical characteristics of 2,132 consecutive unselected patients with

venous thromboembolism-results of the Spanish Multicentric Study

on Thrombophilia (EMET-Study). Thromb Haemost 1997;77:444-51.

7. Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coa-

gulation factor V associated with resistance to activated protein C.

Nature 1994;369:64-7.

8. Poort SR, Rosendaal FR, Reitsma PH, et al. A common genetic

variation in the 3’-untranslated region of the prothrombin gene is

associated with elevated plasma prothrombin levels and an increase

in venous thrombosis. Blood 1996;88:3698-703.

9. Jick H, Slone D, Westerholm B, et al. Venous thromboembolic disea-

se andABO blood type. A cooperative study. Lancet 1969;1:539-42.

10. Germain M, Chasman DI, de Haan H, et al. Meta-analysis of 65,734

individuals identifies TSPAN15 and SLC44A2 as two susceptibility

loci for venous thromboembolism. Am J HumGenet 2015;96:532-42.

11. Hinds DA, Buil A, Ziemek D, et al. Genome-wide association analy-

sis of self-reported events in 6135 individuals and 252 827 con-

trols identifies 8 loci associated with thrombosis. Hum Mol Genet;

2016;9. pii: ddw037. [Epub ahead of print].

12. Baglin T, Gray E, Greaves M, et al. Clinical guidelines for testing for

heritable thrombophilia. Br J Haematol 2010;149:209-20.

13. LijferingWM, Brouwer JL,Veeger NJ, et al. Selective testing for throm-

bophilia in patients with first venous thrombosis: results froma retrospec-

tive family cohort study on absolute thrombotic risk for currently known

thrombophilic defects in 2479 relatives. Blood 2009;113:5314-22.

14. Mahmoodi BK, Brouwer JL, Ten Kate MK, et al. A prospective

cohort study on the absolute risks of venous thromboembolism and

predictive value of screening asymptomatic relatives of patients

with hereditary deficiencies of protein S, protein C or antithrombin.

J Thromb Haemost 2010;8:1193-200.

15. Van Vlijmen EF, Wiewel-Verschueren S, Monster TB, et al. Com-

bined oral contraceptives, thrombophilia and the risk of venous

thromboembolism: a systematic review and meta-analysis. J Thromb

Haemost 2016;28. DOI: 10.1111/jth.13349. [Epub ahead of print].

16. Martínez-Martínez I, Navarro-Fernández J, Østergaard A, et al.

Amelioration of the severity of heparin-binding antithrombin muta-

tions by posttranslational mosaicism. Blood 2012;120:900-4.

17. Martínez-Martínez I, Navarro-Fernández J, Águila S, et al. The

infective polymerization of conformationally unstable antithrom-

bin mutants may play a role in the clinical severity of antithrombin

deficiency. Mol Med 2012;18:762-70.

18. Simioni P, Tormene D, Tognin G, et al. X-linked thrombophilia with a

mutant factor IX (factor IX Padua). N Engl J Med 2009;361:1671-5.

19. Miyawaki Y, Suzuki A, Fujita J, et al. Thrombosis from a prothrom-

bin mutation conveying antithrombin resistance. N Engl J Med

2012;366:2390-6.

20. Lotta LA, Tuana G, Yu J, et al. Next-generation sequencing study

finds an excess of rare, coding single-nucleotide variants of

ADAMTS13 in patients with deep vein thrombosis. J Thromb Hae-

most 2013;11:1228-39.

21. Watson SP, Lowe GC, Lordkipanidzé M, et al. Genotyping and

phenotyping of platelet function disorders. J Thromb Haemost.

2013;Suppl 1:351-63.

22. Luxembourg B, Delev D, Geisen C, et al. Molecular basis of anti-

thrombin deficiency. Thromb Haemost 2011;105:635-46.

23. Toderici M, de la Morena-Barrio ME, Padilla J, et al. Identification

of Regulatory Mutations in SERPINC1AffectingVitamin D Respon-

se Elements Associated with Antithrombin Deficiency. PLoS One

2016;11:e0152159.

24. De la Morena-Barrio ME, Martínez-Martínez I, de Cos C, et al.

Hypoglycosylation is a common finding in antithrombin deficiency

in the absence of a

SERPINC1

gene defect. J Thromb Haemost 2016

[In press].

25. Kottke-Marchant K, Duncan A. Antithrombin deficiency: issues in

laboratory diagnosis. Arch Pathol Lab Med 2002;126:1326-36.

26. Navarro-Fernández J, de la Morena-Barrio ME, Padilla J, et al. Anti-

thrombin Dublin (p.Val30Glu): a relatively common variant with

moderate thrombosis risk of causing transient antithrombin deficien-

cy. Thromb Haemost. 2016;116. [Epub ahead of print].

27. Daly M, Bruce D, Perry DJ, et al. Antithrombin Dublin (-3 Val-

Glu): an N-terminal variant which has an aberrant signal peptidase

cleavage site. FEBS Lett 1990;273:87-90.

28. Beauchamp NJ, Pike RN, Daly M, et al. Antithrombins Wibble

and Wobble (T85M/K): archetypal conformational diseases with

in vivo latent-transition, thrombosis, and heparin activation. Blood

1998;92:2696-706.

29. Corral J, Vicente V, Carrell RW. Thrombosis as a conformational

disease. Haematologica 2005;90:238-46.

30. Corral J, Vicente V. Puzzling questions on antithrombin: Diagnostic

limitations and real incidence in venous and arterial thrombosis.

Thromb Res 2015;135:1047-8.

31. Di Minno MN, Dentali F, Lupoli R, et al. Mild antithrombin defi-

ciency and risk of recurrent venous thromboembolism: a prospective

cohort study. Circulation 2014;129:497-503.