Literature for peptidase S01.214: coagulation factor IXa

(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)

2021

Wu,W., Xiao,L., Wu,X., Xie,X., Li,P., Chen,C., Zheng,Z., Ai,J., Valencia,A., Dong,B., Ding,Q., Dong,B. and Wang,X.
Factor IX alteration p.Arg338Gln (FIX Shanghai) potentiates FIX clotting activity and causes thrombosis
Haematologica26, 568-585. PubMed Europe PubMed DOI M

2019

Meireles,M.R., Bragatte,M.A.S., Bandinelli,E., Salzano,F.M. and Vieira,G.F.
A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severity
Hum Mutat40, 706-715. PubMed Europe PubMed DOI M
Saini,S., Croteau,S.E., Horling,F.M. and Dunn,A.L.
Factor IX inhibitors: clinical and laboratory profiles of two patients with severe haemophilia B
Haemophilia25, e126-e126. PubMed Europe PubMed DOI M
Spronck,E.A., Liu,Y.P., Lubelski,J., Ehlert,E., Gielen,S., Montenegro-Miranda,P., de Haan,M., Nijmeijer,B., Ferreira,V., Petry,H. and van Deventer,S.J.
Enhanced factor IX activity following administration of AAV5-R338L "Padua" factor IX versus AAV5 WT human factor IX in NHPs
Mol Ther Methods Clin Dev15, 221-231. PubMed Europe PubMed DOI M
Wang,X., Gao,L., Shen,N., Liu,A., Lu,Y. and Hu,Q.
Mutation of factor IX Cys178 is intolerant and may cause severe hemophilia B
Thromb Res183, 108-110. PubMed Europe PubMed DOI M

2018

Perez Botero,J., Coon,L.M., Majerus,J.A., Chen,D. and Pruthi,R.K.
Factor IX gene (F9) genotyping trends and spectrum of mutations identified: a reference laboratory experience
Semin Thromb Hemost44, 287-292. PubMed Europe PubMed DOI M
Vandendriessche,T. and Chuah,M.K.
Hyperactive factor IX Padua: a game-changer for hemophilia gene therapy
Mol Ther26, 14-16. PubMed Europe PubMed DOI M
Weber,A., Engelmaier,A., Voelkel,D., Pachlinger,R., Scheiflinger,F., Monahan,P.E. and Rottensteiner,H.
Development of methods for the selective measurement of the single amino acid exchange variant coagulation factor IX Padua
Mol Ther Methods Clin Dev10, 29-37. PubMed Europe PubMed DOI A M

2017

Simhadri,V.L., Hamasaki-Katagiri,N., Lin,B.C., Hunt,R., Jha,S., Tseng,S.C., Wu,A., Bentley,A.A., Zichel,R., Lu,Q., Zhu,L., Freedberg,D.I., Monroe,D.M., Sauna,Z.E., Peters,R., Komar,A.A. and Kimchi-Sarfaty,C.
Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B
J Med Genet54, 338-345. PubMed Europe PubMed DOI M

2015

Lu,Q., Yang,L., Manithody,C., Wang,X. and Rezaie,A.R.
Expression and characterization of Gly-317 variants of factor IX causing variable bleeding in hemophilia B patients
Biochemistry54, 3814-3821. PubMed Europe PubMed DOI M
Nakamura,Y., Murata,M., Takagi,Y., Kozuka,T., Nakata,Y., Hasebe,R., Takagi,A., Kitazawa,J., Shima,M. and Kojima,T.
SVA retrotransposition in exon 6 of the coagulation factor IX gene causing severe hemophilia B
Int J Hematol102, 134-139. PubMed Europe PubMed DOI M

2014

Cao,D.H., Liu,X.L., Mu,K., Ma,X.W., Sun,J.L., Bai,X.Z., Lin,C.K. and Jin,C.L.
Identification and genetic analysis of a factor IX gene intron 3 mutation in a hemophilia B pedigree in China
Turk J Haematol31, 226-230. PubMed Europe PubMed DOI M

2013

Geng,Y., Verhamme,I.M., Sun,M.F., Bajaj,S.P., Emsley,J. and Gailani,D.
Analysis of the factor XI variant Arg184Gly suggests a structural basis for factor IX binding to factor XIa
J Thromb Haemost11, 1374-1384. PubMed Europe PubMed DOI M
Rallapalli,P.M., Kemball-Cook,G., Tuddenham,E.G., Gomez,K. and Perkins,S.J.
An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B
J Thromb Haemost11, 1329-1340. PubMed Europe PubMed DOI M

2011

Kao,C.Y., Lin,C.N., Yang,Y.L., Hamaguchi,N., Yang,S.J., Shen,M.C., Kao,J.T. and Lin,S.W.
Characterisation of factor IX with a glycine-to-valine missense mutation at residue 190 in a patient with severe haemophilia B
Thromb Haemost105, 616-626. PubMed Europe PubMed DOI M

2010

Ishiwata,A., Mimuro,J., Mizukami,H., Kashiwakura,Y., Yasumoto,A., Sakata,A., Ohmori,T., Madoiwa,S., Ono,F., Shima,M., Yoshioka,A., Ozawa,K. and Sakata,Y.
Mutant macaque factor IX T262A: a tool for hemophilia B gene therapy studies in macaques
Thromb Res125, 533-537. PubMed Europe PubMed DOI M U
Mazetto Bde,M., Orsi,F.L., Siqueira,L.H., de Mello,T.B., de Paula,E.V. and Annichino-Bizzacchi,J.M.
Prevalence of factor IX-R338L (factor IX Padua) in a cohort of patients with venous thromboembolism and mild elevation of factor IX levels
Thromb Res126, e165-e165. PubMed Europe PubMed DOI M
Sexton,A., Furmedge,J., Barnes,C., Cheetham,G., Wallace,J. and Savarirayan,R.
Clinical significance of two mutations in the factor IX gene in a family with haemophilia B
Haemophilia16, 374-376. PubMed Europe PubMed DOI M

2009

Ghosh,K., Quadros,L. and Shetty,S.
Spectrum of factor IX gene mutations causing haemophilia B from India
Blood Coagul Fibrinolysis20, 333-336. PubMed Europe PubMed DOI M
Simioni,P., Tormene,D., Tognin,G., Gavasso,S., Bulato,C., Iacobelli,N.P., Finn,J.D., Spiezia,L., Radu,C. and Arruda,V.R.
X-linked thrombophilia with a mutant factor IX (factor IX Padua)
N Engl J Med361, 1671-1675. PubMed Europe PubMed DOI M

2008

Chavali,S., Sharma,A., Tabassum,R. and Bharadwaj,D.
Sequence and structural properties of identical mutations with varying phenotypes in human coagulation factor IX
Proteins73, 63-71. PubMed Europe PubMed DOI M

2002

Bowen,D.J.
Haemophilia A and haemophilia B: molecular insights
Mol Pathol55, 127-144. PubMed Europe PubMed M V

1994

Lin,S.W., Lin,C.N., Hamaguchi,N., Smith,K.J. and Shen,M.C.
Characterization of a factor IX variant with a glycine207 to glutamic acid mutation
Blood84, 1866-1873. PubMed Europe PubMed M

1985

Chen,S.H., Yoshitake,S., Chance,P.F., Bray,G.L., Thompson,A.R., Scott,C.R. and Kurachi,K.
An intragenic deletion of the factor IX gene in a family with hemophilia B
J Clin Invest76, 2161-2164. PubMed Europe PubMed DOI M