메뉴 건너뛰기




Volumn 96, Issue 1, 2006, Pages 88-89

Dysfibrinogenemia (fibrinogen Wilmington) due to a novel Aα chain truncation causing decreased plasma expression and impaired fibrin polymerisation

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN VARIANT; ORAL CONTRACEPTIVE AGENT;

EID: 33746683106     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH05-11-0749     Document Type: Article
Times cited : (9)

References (16)
  • 1
    • 33645744323 scopus 로고    scopus 로고
    • Hereditary Fibrinogen Abnormalities
    • In 7th Ed. McGraw-Hill, New York
    • Mosesson MW. Hereditary Fibrinogen Abnormalities. In Williams Hematology. 7th Ed. McGraw-Hill, New York, 2005; 1909-27.
    • (2005) Williams Hematology , pp. 1909-1927
    • Mosesson, M.W.1
  • 2
    • 28344448202 scopus 로고    scopus 로고
    • Fibrinogen and fibrin structure and functions
    • Mosesson MW. Fibrinogen and fibrin structure and functions. J Thromb Haemost 2005; 3: 1894-904.
    • (2005) J Thromb Haemost , vol.3 , pp. 1894-1904
    • Mosesson, M.W.1
  • 3
    • 0034214836 scopus 로고    scopus 로고
    • Mutations in the fibrinogen A alpha gene account for the majority of cases of congenital afibrinogenemia
    • Neerman-Arbez M, de Moerloose P, Bridel C, et al. Mutations in the fibrinogen A alpha gene account for the majority of cases of congenital afibrinogenemia. Blood 2000; 96: 149-52.
    • (2000) Blood , vol.96 , pp. 149-152
    • Neerman-Arbez, M.1    de Moerloose, P.2    Bridel, C.3
  • 4
    • 0034975060 scopus 로고    scopus 로고
    • A Database For Human Fibrinogen Variants
    • Hanss M, Biot F. A Database For Human Fibrinogen Variants. Ann NY Acad Sci 2001; 936: 89-90. http://www.geht.org/databaseang/fibrinogen
    • (2001) Ann NY Acad Sci , vol.936 , pp. 89-90
    • Hanss, M.1    Biot, F.2
  • 5
    • 0030931417 scopus 로고    scopus 로고
    • Fibrinogen Otago: A major alpha chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage
    • Ridgway HJ, Brennan SO, Faed J M, et al. Fibrinogen Otago: a major alpha chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage. Br J Haematol 1997; 98: 632-9.
    • (1997) Br J Haematol , vol.98 , pp. 632-639
    • Ridgway, H.J.1    Brennan, S.O.2    Faed, J.M.3
  • 6
    • 1642345132 scopus 로고    scopus 로고
    • Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen Aα VS4+1 G>T mutation and an AαGln328 truncation (fibrinogen Keokuk)
    • Lefebvre P, Velasco PT, Dear A, et al. Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen Aα VS4+1 G>T mutation and an AαGln328 truncation (fibrinogen Keokuk). Blood 2004; 103: 2571-6.
    • (2004) Blood , vol.103 , pp. 2571-2576
    • Lefebvre, P.1    Velasco, P.T.2    Dear, A.3
  • 8
    • 0029985491 scopus 로고    scopus 로고
    • Fibrinogen Lincoln: A new truncated α chain variant with delayed clotting
    • Ridgway HJ, Brennan SO, Gibbons S, et al. Fibrinogen Lincoln: a new truncated α chain variant with delayed clotting. Br J Haematol 1996; 93: 177-84.
    • (1996) Br J Haematol , vol.93 , pp. 177-184
    • Ridgway, H.J.1    Brennan, S.O.2    Gibbons, S.3
  • 9
    • 1642287922 scopus 로고    scopus 로고
    • Novel Aα chain truncation (fibrinogen Perth) resulting in low expression and impaired fibrinogen polymerisation
    • Homer VM, Mullin JL, Brennan SO, et al. Novel Aα chain truncation (fibrinogen Perth) resulting in low expression and impaired fibrinogen polymerisation. J Throm Haemost 2003; 1: 1245-50.
    • (2003) J Throm Haemost , vol.1 , pp. 1245-1250
    • Homer, V.M.1    Mullin, J.L.2    Brennan, S.O.3
  • 10
    • 0035655109 scopus 로고    scopus 로고
    • Frameshift mutation in the human fibrinogen A-alpha chain gene (Aα(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo
    • Margaglione M, Vecchione G, Santacroce R, et al. Frameshift mutation in the human fibrinogen A-alpha chain gene (Aα(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo. Thromb Haemost 2001; 86: 1483-8.
    • (2001) Thromb Haemost , vol.86 , pp. 1483-1488
    • Margaglione, M.1    Vecchione, G.2    Santacroce, R.3
  • 11
    • 2942592720 scopus 로고    scopus 로고
    • Biophysical characterization of fibrinogen Caracas I with an Aα-chain truncation at Aα-466 Ser: Identification of the mutation and biophysical characterization of properties of clots from plasma and purified fibrinogen
    • Marchi R, Meyer M, Bosch N, et al. Biophysical characterization of fibrinogen Caracas I with an Aα-chain truncation at Aα-466 Ser: identification of the mutation and biophysical characterization of properties of clots from plasma and purified fibrinogen. Blood Coagul Fibrinolysis 2004; 15: 285-93.
    • (2004) Blood Coagul Fibrinolysis , vol.15 , pp. 285-293
    • Marchi, R.1    Meyer, M.2    Bosch, N.3
  • 12
    • 0030845363 scopus 로고    scopus 로고
    • Electrospray ionisation analysis of human fibrinogen
    • Brennan SO. Electrospray ionisation analysis of human fibrinogen. Thromb Haemost 1997; 78: 1055-8.
    • (1997) Thromb Haemost , vol.78 , pp. 1055-1058
    • Brennan, S.O.1
  • 13
    • 0028558663 scopus 로고
    • A frameshift mutation in Exon V of the Aα-chain gene leading to truncated Aα-chains in the homozygous dysfibrinogen Milano III
    • Furlan M, Steinmann C, Jungo, M, et al. A frameshift mutation in Exon V of the Aα-chain gene leading to truncated Aα-chains in the homozygous dysfibrinogen Milano III. J Biol Chem 1994; 269: 33129-34.
    • (1994) J Biol Chem , vol.269 , pp. 33129-33134
    • Furlan, M.1    Steinmann, C.2    Jungo, M.3
  • 14
    • 0029885335 scopus 로고    scopus 로고
    • The relationship between the fibrinogen D domain self-association/ crosslinking site (γXL) and the fibrinogen Dusart abnormality (Aα R554C-albumin)
    • Mosesson MW, Siebenlist KR, Hainfeld JF, et al. The relationship between the fibrinogen D domain self-association/crosslinking site (γXL) and the fibrinogen Dusart abnormality (Aα R554C-albumin). J Clin Invest 1996; 97: 2342-50.
    • (1996) J Clin Invest , vol.97 , pp. 2342-2350
    • Mosesson, M.W.1    Siebenlist, K.R.2    Hainfeld, J.F.3
  • 15
    • 0035936549 scopus 로고    scopus 로고
    • Identification and characterization of novel tPA- and plasminogen-binding sites within fibrin(ogen) alpha C-domains
    • Tsurupa G, Medved L. Identification and characterization of novel tPA- and plasminogen-binding sites within fibrin(ogen) alpha C-domains. Biochemistry 2001; 40: 801-8.
    • (2001) Biochemistry , vol.40 , pp. 801-808
    • Tsurupa, G.1    Medved, L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.