Literature DB >> 9873754

The molecular basis of haemophilia B.

D Lillicrap1.   

Abstract

Over the past 15 years, our knowledge of the molecular basis of haemophilia B has increased dramatically. Following the cloning and characterization of the factor IX gene in 1982, major advances have been made in documenting the molecular pathology that underlies this condition. This review will summarize the current state of information in this area, and the reader is referred to the Haemophilia B Mutation Database World Wide Web site at http://www.umds.ac.uk/molgen/haemBdatabase for a complete current listing of the mutations that cause this phenotype. In addition, other recent reviews have discussed complementary issues relating to this topic.

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Year:  1998        PMID: 9873754     DOI: 10.1046/j.1365-2516.1998.440350.x

Source DB:  PubMed          Journal:  Haemophilia        ISSN: 1351-8216            Impact factor:   4.287


  7 in total

1.  The Italian haemophilia B mutation database: a tool for genetic counselling, carrier detection and prenatal diagnosis.

Authors:  Giuseppe Tagariello; Donata Belvini; Roberta Salviato; Rosanna Di Gaetano; Daniela Zanotto; Paolo Radossi; Renzo Risato; Roberto Sartori; Cristina Tassinari
Journal:  Blood Transfus       Date:  2007-07       Impact factor: 3.443

2.  Impact of the underlying mutation and the route of vector administration on immune responses to factor IX in gene therapy for hemophilia B.

Authors:  Ou Cao; Brad E Hoffman; Babak Moghimi; Sushrusha Nayak; Mario Cooper; Shangzhen Zhou; Hildegund C J Ertl; Katherine A High; Roland W Herzog
Journal:  Mol Ther       Date:  2009-07-14       Impact factor: 11.454

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.  Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity.

Authors:  Alessio Branchini; Matteo Campioni; Maria Gabriella Mazzucconi; Francesca Biondo; Rosella Mari; Maria Patrizia Bicocchi; Francesco Bernardi; Mirko Pinotti
Journal:  FEBS Lett       Date:  2013-08-27       Impact factor: 4.124

5.  Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies.

Authors:  Faisal A Al-Allaf; Mohiuddin M Taher; Zainularifeen Abduljaleel; Abdellatif Bouazzaoui; Mohammed Athar; Neda M Bogari; Halah A Abalkhail; Tarek Ma Owaidah
Journal:  J Clin Med Res       Date:  2017-02-21

Review 6.  The Molecular Basis of FIX Deficiency in Hemophilia B.

Authors:  Guomin Shen; Meng Gao; Qing Cao; Weikai Li
Journal:  Int J Mol Sci       Date:  2022-03-02       Impact factor: 5.923

7.  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

  7 in total

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