Literature DB >> 31399523

Profiling the mutational landscape of coagulation factor V deficiency.

Elvezia Maria Paraboschi1, Marzia Menegatti2, Valeria Rimoldi1, Munira Borhany3, Magy Abdelwahab4, Donato Gemmati5,6, Flora Peyvandi2,7, Stefano Duga1,8, Rosanna Asselta9,8.   

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Year:  2019        PMID： 31399523      PMCID： PMC7109718          DOI： 10.3324/haematol.2019.232587

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  14 in total

1.  Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.

Authors:  R van Wijk; K Nieuwenhuis; M van den Berg; E G Huizinga; B B van der Meijden; R J Kraaijenhagen; W W van Solinge
Journal:  Blood       Date:  2001-07-15       Impact factor: 22.113

Review 2.  Coagulation factor V.

Authors:  Stefano Duga; Rosanna Asselta; Maria Luisa Tenchini
Journal:  Int J Biochem Cell Biol       Date:  2004-08       Impact factor: 5.085

Review 3.  The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation.

Authors:  P H B Bolton-Maggs; D J Perry; E A Chalmers; L A Parapia; J T Wilde; M D Williams; P W Collins; S Kitchen; G Dolan; A D Mumford
Journal:  Haemophilia       Date:  2004-09       Impact factor: 4.287

Review 4.  Inherited defects of coagulation Factor V: the thrombotic side.

Authors:  H L Vos
Journal:  J Thromb Haemost       Date:  2005-10-25       Impact factor: 5.824

5.  Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is "pseudo homozygous" for activated protein C resistance.

Authors:  J F Guasch; R P Lensen; R M Bertina
Journal:  Thromb Haemost       Date:  1997-02       Impact factor: 5.249

Review 6.  Factor V deficiency.

Authors:  Rosanna Asselta; Flora Peyvandi
Journal:  Semin Thromb Hemost       Date:  2009-07-13       Impact factor: 4.180

7.  Mutation in blood coagulation factor V associated with resistance to activated protein C.

Authors:  R M Bertina; B P Koeleman; T Koster; F R Rosendaal; R J Dirven; H de Ronde; P A van der Velden; P H Reitsma
Journal:  Nature       Date:  1994-05-05       Impact factor: 49.962

8.  Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein.

Authors:  Stefano Duga; Maria Claudia Montefusco; Rosanna Asselta; Massimo Malcovati; Flora Peyvandi; Elena Santagostino; Pier Mannuccio Mannucci; Maria Luisa Tenchini
Journal:  Blood       Date:  2002-08-15       Impact factor: 22.113

9.  Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency.

Authors:  Elvezia Maria Paraboschi; Marzia Menegatti; Flora Peyvandi; Stefano Duga; Rosanna Asselta
Journal:  Int J Mol Sci       Date:  2019-02-20       Impact factor: 5.923

10.  Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.

Authors:  Elvezia Maria Paraboschi; Stefano Duga; Rosanna Asselta
Journal:  Int J Mol Sci       Date:  2017-12-14       Impact factor: 5.923
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  2 in total

1.  A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency.

Authors:  Yueh-Shih Chang; Yi-Cheng Lan; Ya-Jyun Chen; Jen-Seng Huang; Chia-Ning Yang; Chi-Ying F Huang; Kun-Yun Yeh
Journal:  Front Med (Lausanne)       Date:  2022-06-09

2.  Adeno-associated virus-mediated expression of activated factor V (FVa) for hemophilia phenotypic correction.

Authors:  Junjiang Sun; Xiaojing Chen; Zheng Chai; Hongqian Niu; Amanda L Dobbins; Timothy C Nichols; Chengwen Li
Journal:  Front Med (Lausanne)       Date:  2022-08-05
  2 in total

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