Literature DB >> 21595097

Nomenclature of genetic variants in hemostasis.

A C Goodeve1, P H Reitsma, J H McVey.   

Abstract

Mesh：

Year:  2011        PMID： 21595097     DOI： 10.1111/j.1538-7836.2011.04191.x

Source DB:  PubMed          Journal:  J Thromb Haemost        ISSN： 1538-7836            Impact factor:   5.824


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  11 in total

1.  FVIII proteins with a modified immunodominant T-cell epitope exhibit reduced immunogenicity and normal FVIII activity.

Authors:  Ruth A Ettinger; Joseph A Liberman; Devi Gunasekera; Komal Puranik; Eddie A James; Arthur R Thompson; Kathleen P Pratt
Journal:  Blood Adv       Date:  2018-02-27

2.  Complexity and diversity of F8 genetic variations in the 1000 genomes.

Authors:  J N Li; I G Carrero; J F Dong; F L Yu
Journal:  J Thromb Haemost       Date:  2015-10-20       Impact factor: 5.824

3.  Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

Authors:  Claudia Pamela Radic; Liliana Carmen Rossetti; Miguel Martín Abelleyro; Miguel Candela; Raúl Pérez Bianco; Miguel de Tezanos Pinto; Irene Beatriz Larripa; Anne Goodeve; Carlos Daniel De Brasi
Journal:  Thromb Haemost       Date:  2012-10-23       Impact factor: 5.249

4.  Enhanced factor VIIIa stability of A2 domain interface variants results from an increased apparent affinity for the A2 subunit. Results from an increased apparent affinity for the A2 subunit.

Authors:  M Monaghan; H Wakabayashi; A Griffiths; J Wintermute; P J Fay
Journal:  Thromb Haemost       Date:  2014-06-05       Impact factor: 5.249

5.  Combining mutations that modulate inter-subunit interactions and proteolytic inactivation enhance the stability of factor VIIIa.

Authors:  H Wakabayashi; J M Wintermute; P J Fay
Journal:  Thromb Haemost       Date:  2014-03-06       Impact factor: 5.249

6.  F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.

Authors:  Alessio Branchini; Massimo Morfini; Barbara Lunghi; Donata Belvini; Paolo Radossi; Loredana Bury; Maria Luisa Serino; Paola Giordano; Dorina Cultrera; Angelo Claudio Molinari; Mariasanta Napolitano; Elisabetta Bigagli; Giancarlo Castaman; Mirko Pinotti; Francesco Bernardi
Journal:  J Thromb Haemost       Date:  2021-10-24       Impact factor: 16.036

7.  Long-acting recombinant fusion protein linking coagulation factor IX with albumin (rIX-FP) in children. Results of a phase 3 trial.

Authors:  Gili Kenet; Hervé Chambost; Christoph Male; Thierry Lambert; Susan Halimeh; Tatiana Chernova; Maria Elisa Mancuso; Julie Curtin; Christine Voigt; Yanyan Li; Iris Jacobs; Elena Santagostino
Journal:  Thromb Haemost       Date:  2016-09-01       Impact factor: 5.249

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.  The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII.

Authors:  Maria Eugenia Chollet; Marcello Baroni; Elisabeth Andersen; Mirko Pinotti; Francesco Bernardi; Ellen Skarpen; Per Morten Sandset; Grethe Skretting
Journal:  Cell Biosci       Date:  2019-08-27       Impact factor: 7.133

10.  Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.

Authors:  Upendra K Katneni; Aaron Liss; David Holcomb; Nobuko H Katagiri; Ryan Hunt; Haim Bar; Amra Ismail; Anton A Komar; Chava Kimchi-Sarfaty
Journal:  Mol Genet Genomic Med       Date:  2019-06-30       Impact factor: 2.183
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