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Literature for peptidase S01.215: coagulation factor VIIa

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Structure Literature Substrates Pharma

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

    2020
  1. Girolami,A., Paoletti,M., Ferrari,S. and Garcia,D.
    Peculiar congenital factor VII defect with the proposita and her mother showing the same compound heterozygosity for Thr384Met and Arg413Gln
    Acta Haematol1-5. PubMed  Europe PubMed DOI  M
    2. 2019
  2. de Vries,P.S., Sabater-Lleal,M., Huffman,J.E., Marten,J., Song,C., Pankratz,N., Bartz,T.M., de Haan,H.G., Delgado,G.E., Eicher,J.D., Martinez-Perez,A., Ward-Caviness,C.K., Brody,J.A., Chen,M.H., de Maat,M.P.M., Franberg,M., Gill,D., Kleber,M.E., Rivadeneira,F., Soria,J.M., Tang,W., Tofler,G.H., Uitterlinden,A.G., van Hylckama Vlieg,A., Seshadri,S., Boerwinkle,E., Davies,N.M., Giese,A.K., Ikram,M.K., Kittner,S.J., McKnight,B., Psaty,B.M., Reiner,A.P., Sargurupremraj,M., Taylor,K.D., Fornage,M., Hamsten,A., Marz,W., Rosendaal,F.R., Souto,J.C., Dehghan,A., Johnson,A.D., Morrison,A.C., O'Donnell,C.J. and Smith,N.L.
    A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology
    Blood133, 967-977. PubMed  Europe PubMed DOI  M
  3. Girolami,A., Cosi,E., Ferrari,S., Girolami,B. and Randi,M.L.
    Thrombotic events in homozygotes with a proven or highly probable Arg304Gln factor VII mutation (FVII Padua): only limited replacement therapy is needed in case of surgery
    Cardiovasc Hematol Disord Drug Targets19, 233-238. PubMed  Europe PubMed DOI  M
  4. Li,M., Jin,Y., Wang,M. and Ding,H.
    Analysis of phenotype and genotype in an inherited coagulation factor VII deficiency pedigree
    Clin Lab65, PubMed  Europe PubMed DOI  M
  5. Robinson,K.S.
    An overview of inherited factor VII deficiency
    Transfus Apher Sci58, 569-571. PubMed  Europe PubMed DOI  M
  6. Shahbazi,S. and Mahdian,R.
    Factor VII gene defects: review of functional studies and their clinical implications
    Iran Biomed J23, 165-174. PubMed  Europe PubMed  M
  7. Shaul,C., Blotnick,S., Deutsch,L., Rosenberg,G. and Caraco,Y.
    The impact of R353Q genetic polymorphism in coagulation factor VII on the initial anticoagulant effect exerted by warfarin
    Eur J Clin Pharmacol75, 343-350. PubMed  Europe PubMed DOI  M
    8. 2018
  8. Mashayekhi,A., Shahbazi,S. and Omrani,M.
    Functional and molecular characterization of C91S mutation in the second epidermal growth factor-like domain of factor VII
    Iran J Biotechnol16, e1813-e1813. PubMed  Europe PubMed DOI  M
  9. Umakanthan,J.M., Dhakal,P., Gundabolu,K., Koepsell,S.A. and Baljevic,M.
    Serendipitous discovery of factor VII deficiency and the ensuing dilemma
    Maedica (Buchar)13, 71-73. PubMed  Europe PubMed  M
    10. 2017
  10. Chollet,M.E., Andersen,E., Skarpen,E., Myklebust,C.F., Koehler,C., Morth,J.P., Chuansumrit,A., Pinotti,M., Bernardi,F., Thiede,B., Sandset,P.M. and Skretting,G.
    Factor VII deficiency: unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain
    Biochim Biophys Acta1864, 660-667. PubMed  Europe PubMed DOI  M
  11. Lynch,M., McGrath,K., Raj,K., McLaren,P., Payne,K., McCoy,R. and Giger,U.
    Hereditary factor VII deficiency in the Asian elephant (Elephas maximus) caused by a F7 missense mutation
    J Wildl Dis53, 248-257. PubMed  Europe PubMed DOI  M
  12. Napolitano,M., Siragusa,S. and Mariani,G.
    Factor VII deficiency: clinical phenotype, genotype and therapy
    J Clin Med6, PubMed  Europe PubMed DOI  M
    13. 2016
  13. Hao,X., Cheng,X., Ye,J., Wang,Y., Yang,L., Wang,M. and Jin,Y.
    Severe coagulation factor VII deficiency caused by a novel homozygous mutation (p. Trp284Gly) in loop 140s
    Blood Coagul Fibrinolysis27, 461-463. PubMed  Europe PubMed DOI  M
  14. Sheffield,W.P. and Bhakta,V.
    The M358R variant of alpha(1)-proteinase inhibitor inhibits coagulation factor VIIa
    Biochem Biophys Res Commun470, 710-713. PubMed  Europe PubMed DOI  M
    15. 2015
  15. Hao,X., Cheng,X., Wang,Y., Yang,L., Xie,Y., Wang,M. and Jin,Y.
    A novel gene insertion combined with a missense mutation causing factor VII deficiency in two unrelated Chinese families
    Blood Coagul Fibrinolysis26, 687-690. PubMed  Europe PubMed DOI  M
  16. Sakakibara,K., Okayama,Y., Fukushima,K., Kaji,S., Muraoka,M., Arao,Y. and Shimada,A.
    Japanese family with congenital factor VII deficiency
    Pediatr Int57, 1023-1024. PubMed  Europe PubMed DOI  M
  17. Shigekiyo,T., Sekimoto,E., Shibata,H., Ozaki,S., Okumura,T., Fujinaga,H., Shibata,H., Aihara,K. and Akaike,M.
    Factor VII Tokushima: the first case of factor VII Cys22Gly with the development of myocardial infarction in the proband receiving recombinant factor VIIa replacement therapy
    Blood Coagul Fibrinolysis26, 956-958. PubMed  Europe PubMed DOI  M
    18. 2013
  18. Bartosh,N.S., Tomlin,T., Cable,C. and Halka,K.
    Newly diagnosed congenital factor VII deficiency and utilization of recombinant activated factor VII (NovoSeven((R)))
    Clin Pharmacol5, 53-58. PubMed  Europe PubMed DOI  M  U
  19. Jiang,M., Wang,Z., Yu,Z., Su,J., Cao,L. and Zhang,W.
    [Identification and functional analysis of a novel missense mutation Ser250Phe underlying congenital coagulation factor VII deficiency]
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi30, 152-156. PubMed  Europe PubMed DOI  M
  20. Li,M., Zheng,F., Jin,Y., Wang,M., Zhu,L. and Yang,L.
    Double heterozygous mutations Gln100Leu and His348Gln of the F7 gene in a patient with factor VII deficiency
    Blood Coagul Fibrinolysis24, 199-201. PubMed  Europe PubMed DOI  M
  21. Zhang,T., Sun,L. and Meng,Y.
    A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a pedigree: a description of two cases
    Haemophilia19, e298-e300. PubMed  Europe PubMed DOI  M
    22. 2011
  22. Criado-Garcia,J., Fuentes,F., Cruz-Teno,C., Garcia-Rios,A., Jimenez-Morales,A., Delgado-Lista,J., Mata,P., Alonso,R., Lopez-Miranda,J. and Perez-Jimenez,F.
    R353Q polymorphism in the factor VII gene and cardiovascular risk in heterozygous familial hypercholesterolemia: a case-control study
    Lipids Health Dis10, 50-50. PubMed  Europe PubMed DOI  M
  23. Girolami,A., de Marinis,G.B., Bonamigo,E. and Vettore,S.
    Similarities and discrepancies in homozygous factor VII defects due to mutations in the region of residues Met298 to Cys310 (exon 8) in the catalytic domain of factor VII
    Lab Hematol17, 17-21. PubMed  Europe PubMed DOI  M
  24. Girolami,A., Bertozzi,I., de Marinis,G.B., Bonamigo,E. and Fabris,F.
    Activated FVII levels in factor VII Padua (Arg304Gln) coagulation disorder and in true factor VII deficiency: a study in homozygotes and heterozygotes
    Hematology16, 308-312. PubMed  Europe PubMed DOI  M
  25. Jiang,M., Wang,Z., Yu,Z., Bai,X., Su,J., Cao,L., Zhang,W. and Ruan,C.
    A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency
    Blood Coagul Fibrinolysis22, 264-270. PubMed  Europe PubMed DOI  M
  26. Jin,Y., Wang,M., Niu,Z., Xie,Y., Xie,H. and Yang,L.
    [An inherited coagulation factor VII deficiency pedigree caused by homozygous mutation of His348Gln]
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi28, 10-13. PubMed  Europe PubMed DOI  M
  27. Kogiso,N., Taki,M. and Takamiya,O.
    Factor VII deficiency due to compound heterozygosity for Leu-48Pro mutation and a novel Pro260Leu mutation
    Clin Appl Thromb Hemost17, E205-E210. PubMed  Europe PubMed DOI  M
    28. 2010
  28. Athanasiadis,G., Esteban,E., Gaya-Vidal,M., Dugoujon,J.M., Moschonas,N., Chaabani,H., Bissar-Tadmouri,N., Harich,N., Stoneking,M. and Moral,P.
    Different evolutionary histories of the coagulation factor VII gene in human populations?
    Ann Hum Genet74, 34-45. PubMed  Europe PubMed DOI  M
  29. Tanaka,R., Nakashima,D., Suzuki,A., Miyawaki,Y., Fujimori,Y., Yamada,T., Takagi,A., Murate,T., Yamamoto,K., Katsumi,A., Matsushita,T., Naoe,T. and Kojima,T.
    Impaired secretion of carboxyl-terminal truncated factor VII due to an F7 nonsense mutation associated with FVII deficiency
    Thromb Res125, 262-266. PubMed  Europe PubMed DOI  M
    30. 2009
  30. Mariani,G. and Bernardi,F.
    Factor VII deficiency
    Semin Thromb Hemost35, 400-406. PubMed  Europe PubMed DOI  M
  31. Okamoto,M., Katsuda,I., Ohshika,Y., Maruyama,F., Ezaki,K., Emi,N. and Ichihara,Y.
    Factor VII deficiency: a double heterozygote of an Arg402Stop with a deletion of the C-terminal five amino acids and a Thr359Met
    Eur J Haematol82, 405-407. PubMed  Europe PubMed DOI  M
    32. 2008
  32. Lapecorella,M. and Mariani,G.
    Factor VII deficiency: defining the clinical picture and optimizing therapeutic options
    Haemophilia14, 1170-1175. PubMed  Europe PubMed DOI  M  V
  33. Lee,S.M., Heo,Y.S., Lee,E.Y., Chang,C.L., Shin,H.J., Chung,J.S. and Hwang,S.H.
    Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutation
    Blood Coagul Fibrinolysis19, 92-94. PubMed  Europe PubMed DOI  M
    34. 2007
  34. Greisenegger,S., Weber,M., Funk,M., Endler,G., Lang,W., Ferrari,J., Lalouschek,W. and Mannhalter,C.
    Polymorphisms in the coagulation factor VII gene and risk of primary intracerebral hemorrhage
    Eur J Neurol14, 1098-1101. PubMed  Europe PubMed DOI  M
    35. 2005
  35. Eriksson-Berg,M., Deguchi,H., Hawe,E., Scanavini,D., Orth-Gomer,K., Schenck-Gustafsson,K., Humphries,S.E., Silveira,A. and Hamsten,A.
    Influence of factor VII gene polymorphisms and environmental factors on plasma coagulation factor VII concentrations in middle-aged women with and without manifest coronary heart disease
    Thromb Haemost93, 351-358. PubMed  Europe PubMed DOI  M
    36. 2004
  36. Furlan Freguia,C., Toso,R., Pollak,E.S., Arruda,V.R., Pinotti,M. and Bernardi,F.
    Characterization of mild coagulation factor VII deficiency: activity and clearance of the Arg315Trp and Arg315Lys variants in the Cys310-Cys329 loop (c170s)
    Haematologica89, 1504-1509. PubMed  Europe PubMed  M
  37. Kavlie,A., Wiiger,M.T., Husbyn,M., Stormorken,H. and Prydz,H.
    A novel gene mutation in the 60s loop of human coagulation factor VII - inhibition of interdomain crosstalk
    Thromb Haemost91, 28-37. PubMed  Europe PubMed DOI  M

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