Literature DB >> 29386375

Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene.

Giancarlo Castaman1.   

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Year:  2018        PMID： 29386375      PMCID： PMC5792263          DOI： 10.3324/haematol.2017.186353

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


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  11 in total

1.  Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.

Authors:  B D Theophilus; M S Enayat; M D Williams; F G Hill
Journal:  Haemophilia       Date:  2001-07       Impact factor: 4.287

2.  Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.

Authors:  Y Jourdy; C Nougier; O Roualdes; M Fretigny; B Durand; C Negrier; C Vinciguerra
Journal:  Haemophilia       Date:  2016-02-25       Impact factor: 4.287

3.  Purification and characterization of factor VIII 372-Cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A.

Authors:  D P O'Brien; J K Pattinson; E G Tuddenham
Journal:  Blood       Date:  1990-04-15       Impact factor: 22.113

4.  Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo.

Authors:  S W Pipe; A N Eickhorst; S H McKinley; E L Saenko; R J Kaufman
Journal:  Blood       Date:  1999-01-01       Impact factor: 22.113

Review 5.  The life cycle of coagulation factor VIII in view of its structure and function.

Authors:  P J Lenting; J A van Mourik; K Mertens
Journal:  Blood       Date:  1998-12-01       Impact factor: 22.113

6.  Thrombin-catalyzed activation of factor VIII with His substituted for Arg372 at the P1 site.

Authors:  Keiji Nogami; Qian Zhou; Hironao Wakabayashi; Philip J Fay
Journal:  Blood       Date:  2005-02-10       Impact factor: 22.113

7.  Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.

Authors:  Dario Balestra; Elena Barbon; Daniela Scalet; Nicola Cavallari; Daniela Perrone; Silvia Zanibellato; Francesco Bernardi; Mirko Pinotti
Journal:  Hum Mol Genet       Date:  2015-06-10       Impact factor: 6.150

8.  Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.

Authors:  Irving Donadon; John H McVey; Isabella Garagiola; Alessio Branchini; Mimosa Mortarino; Flora Peyvandi; Francesco Bernardi; Mirko Pinotti
Journal:  Haematologica       Date:  2017-11-23       Impact factor: 9.941

9.  A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect.

Authors:  Isabella Garagiola; Sabrina Seregni; Mimosa Mortarino; Maria Elisa Mancuso; Maria Rosaria Fasulo; Lucia Dora Notarangelo; Flora Peyvandi
Journal:  Mol Genet Genomic Med       Date:  2015-12-14       Impact factor: 2.183

10.  Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.

Authors:  Mojca Tajnik; Malgorzata Ewa Rogalska; Erica Bussani; Elena Barbon; Dario Balestra; Mirko Pinotti; Franco Pagani
Journal:  PLoS Genet       Date:  2016-05-26       Impact factor: 5.917
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  1 in total

1.  Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.

Authors:  Silvia Lombardi; Gabriele Leo; Simone Merlin; Antonia Follenzi; John H McVey; Iva Maestri; Francesco Bernardi; Mirko Pinotti; Dario Balestra
Journal:  Am J Hum Genet       Date:  2021-07-08       Impact factor: 11.025
  1 in total

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