Literature DB >> 9399849

Haemophilia B: database of point mutations and short additions and deletions--eighth edition.

F Giannelli1, P M Green, S S Sommer, M Poon, M Ludwig, R Schwaab, P H Reitsma, M Goossens, A Yoshioka, M S Figueiredo, G G Brownlee.   

Abstract

The eighth edition of the haemophilia B database (http://www.umds.ac. uk/molgen/haemBdatabase.htm ) lists in an easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1713 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, presence of inhibitor and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.

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Year:  1998        PMID: 9399849      PMCID: PMC147172          DOI: 10.1093/nar/26.1.265

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


  18 in total

1.  Haemophilia B: database of point mutations and short additions and deletions--second edition.

Authors:  F Giannelli; P M Green; K A High; S Sommer; D P Lillicrap; M Ludwig; K Olek; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1991-04-25       Impact factor: 16.971

2.  Key residues involved in calcium-binding motifs in EGF-like domains.

Authors:  P A Handford; M Mayhew; M Baron; P R Winship; I D Campbell; G G Brownlee
Journal:  Nature       Date:  1991-05-09       Impact factor: 49.962

3.  Glutamate panorama.

Authors:  L Trussell
Journal:  Science       Date:  1992-07-10       Impact factor: 47.728

4.  Haemophilia B: database of point mutations and short additions and deletions, 7th edition.

Authors:  F Giannelli; P M Green; S S Sommer; M C Poon; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka; M S Figueiredo; G G Brownlee
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

5.  Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).

Authors:  S Yoshitake; B G Schach; D C Foster; E W Davie; K Kurachi
Journal:  Biochemistry       Date:  1985-07-02       Impact factor: 3.162

6.  X-ray structure of clotting factor IXa: active site and module structure related to Xase activity and hemophilia B.

Authors:  H Brandstetter; M Bauer; R Huber; P Lollar; W Bode
Journal:  Proc Natl Acad Sci U S A       Date:  1995-10-10       Impact factor: 11.205

7.  The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene.

Authors:  R P Ketterling; E Vielhaber; S S Sommer
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

8.  Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation.

Authors:  D J Picketts; D P Lillicrap; C R Mueller
Journal:  Nat Genet       Date:  1993-02       Impact factor: 38.330

9.  Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169.

Authors:  K L Agarwala; S Kawabata; T Takao; H Murata; Y Shimonishi; H Nishimura; S Iwanaga
Journal:  Biochemistry       Date:  1994-05-03       Impact factor: 3.162

10.  A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B.

Authors:  C D Bottema; D D Koeberl; R P Ketterling; E J Bowie; S A Taylor; D Lillicrap; A Shapiro; G Gilchrist; S S Sommer
Journal:  Br J Haematol       Date:  1990-06       Impact factor: 6.998

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  26 in total

1.  Regions 301-303 and 333-339 in the catalytic domain of blood coagulation factor IX are factor VIII-interactive sites involved in stimulation of enzyme activity.

Authors:  J A Kolkman; P J Lenting; K Mertens
Journal:  Biochem J       Date:  1999-04-15       Impact factor: 3.857

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.  A mutation spectra database for bacterial and mammalian genes: 1998.

Authors:  F Hutchinson; J E Donnellan
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

4.  Gene therapy for hemophilia: the clot thickens.

Authors:  Katherine A High
Journal:  Hum Gene Ther       Date:  2014-11       Impact factor: 5.695

5.  Molecular nature of 11 spontaneous de novo mutations in Drosophila melanogaster.

Authors:  H P Yang; A Y Tanikawa; A S Kondrashov
Journal:  Genetics       Date:  2001-03       Impact factor: 4.562

6.  Biochemical defects of mutant nudel alleles causing early developmental arrest or dorsalization of the Drosophila embryo.

Authors:  E K LeMosy; C L Leclerc; C Hashimoto
Journal:  Genetics       Date:  2000-01       Impact factor: 4.562

7.  Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.

Authors:  F Giannelli; T Anagnostopoulos; P M Green
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

8.  Surface-loop residue Lys316 in blood coagulation Factor IX is a major determinant for Factor X but not antithrombin recognition.

Authors:  J A Kolkman; K Mertens
Journal:  Biochem J       Date:  2000-09-15       Impact factor: 3.857

9.  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

10.  A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs.

Authors:  Marjory B Brooks; Weikuan Gu; Jennifer L Barnas; Jharna Ray; Kunal Ray
Journal:  Mamm Genome       Date:  2003-11       Impact factor: 2.957

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