| 1 | F8, F9
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| Structural insights into the interaction of blood coagulation co-factor VIIIa with factor IXa: a computational protein-protein docking and molecular dynamics refinement study.
|
| Venkateswarlu D.
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| Biochem Biophys Res Commun 452(3):408-14. doi: 10.1016/j.bbrc.2014.08.078.
2014
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| 2 | F9, ONECUT1, ONECUT2
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| A CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B Leyden.
|
| Funnell AP, Wilson MD, Ballester B, Mak KS, Burdach J, Magan N, Pearson RC, Lemaigre FP, Stowell KM, Odom DT, Flicek P, Crossley M.
|
| Am J Hum Genet 92(3):460-7. doi: 10.1016/j.ajhg.2013.02.003.
2013
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| 3 | F9, F9D
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| Spectrum of factor IX gene mutations causing haemophilia B from India.
|
| Ghosh K, Quadros L, Shetty S.
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| Blood Coagul Fibrinolysis lood Coagul Fibrinolysis. 2009 Apr 7. [Epub ahead of print] 2009
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| 4 | F8, F8D, F9
|
| The factor VIIIa C2 domain (residues 2228-2240) interacts with the factor IXa Gla domain in the factor xase complex.
|
| Soeda T, Nogami K, Nishiya K, Takeyama M, Ogiwara K, Sakata Y, Yoshioka A, Shima M.
|
| J Biol Chem 284(6):3379-88. Epub 2008 Dec 1.
2009
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| 5 | F9, F9D
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| Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.
|
| Kwon MJ, Yoo KY, Kim HJ, Kim SH.
|
| Haemophilia 14(5):1069-75. Epub 2008 Jul 8. 2008
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| 6 | F9, F9D
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| Sequence and structural properties of identical mutations with varying phenotypes in human coagulation factor IX.
|
| Chavali S, Sharma A, Tabassum R, Bharadwaj D.
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| Proteins 73(1):63-71. 2008
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| 7 | F9
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| The interface between the EGF2 domain and the protease domain in blood coagulation factor IX contributes to factor VIII binding and factor X activation.
|
| Fribourg C, Meijer AB, Mertens K.
|
| Biochemistry 45(35):10777-85.
2006
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| 8 | ATP11A, ATP11B, ATP11C, F9, HPT1, RNU7L
|
| X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
|
| Andrew Nesbit M, Bowl MR, Harding B, Schlessinger D, Whyte MP, Thakker RV.
|
| Genomics 84(6):1060-70. 2004
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| 9 | F9
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| High levels of factor IX increase the risk of venous thrombosis.
|
| van Hylckama Vlieg A, van der Linden IK, Bertina RM, Rosendaal FR.
|
| Blood 95(12):3678-82. 2000
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| 10 | F9
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| Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age.
|
| Ketterling RP, Vielhaber E, Li X, Drost J, Schaid DJ, Kasper CK, Phillips JA 3rd, Koerper MA, Kim H, Sexauer C, Gruppo R, Ambriz R, Paredes R, Sommer SS.
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| Hum Genet 105(6):629-40 1999
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| 11 | F9, F9D
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| Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy.
|
| Oldenburg J, Quenzel EM, Harbrecht U, Fregin A, Kress W, Muller CR, Hertfelder HJ, Schwaab R, Brackmann HH, Hanfland P.
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| Br J Haematol 98(1):240-4. 1997
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| 12 | F9
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| A mutation in the propeptide of factor IX leads to warfarin sensitivity by a novel mechanism.
|
| Chu K, et al.
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| J Clin Invest 98 : 1619-1625. 1996
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| 13 | ADFN, CD40LG, F9, GPC3, HPRT1, HPT1, HTX1, MCF2, THAS
|
| YAC/STS map of 9 Mb of Xq26 at 100-kb resolution, localizing 6 ESTs, 6 genes, and 32 genetic markers.
|
| Pilia G, et al.
|
| Genomics 34 : 55-62. 1996
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| 14 | ADFN, F9, FRAXA, HPT1, IDS, SOX3, THAS
|
| YAC/STS map across 12 Mb of Xq27 at 25-kb resolution, merging Xq26-qter.
|
| Zucchi I, et al.
|
| Genomics 34 : 42-54. 1996
|
| 15 | F9
|
| The rates and patterns of deletions in the human factor IX gene.
|
| Ketterling RP, et al.
|
| Am J Hum Genet 54 : 201-213. 1994
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| 16 | F9
|
| Microdeletions in the factor IX gene : three recurrences associated with a quasipalindromic sequence.
|
| Ketterling RP, et al.
|
| Hum Mol Genet 3 : 191-192. 1994
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| 17 | F9, F9D
|
| A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a Southern French patient.
|
| Aguilar-Martinez P, et al.
|
| Hum Mutat 3 : 156-158. 1994
|
| 18 | F9
|
| Cryptic dinucleotide polymorphism in the 3' region of the factor IX gene shows substantial variation among different populations.
|
| Sommer SS, et al.
|
| Hum Genet 93 : 357-358. 1994
|
| 19 | F10, F10D, F9, F9D
|
| Five novel point mutations : two causing haemophilia B and three causing factor X deficiency.
|
| Odom MW, et al.
|
| Mol Cell Probes 8 : 63-65. 1994
|
| 20 | F9
|
| Determinants of the factor IX mutational spectrum in haemophilia B : an analysis of missense mutations using a multi-domain molecular model of the activated protein.
|
| Wacey AI, et al.
|
| Hum Genet 94 : 594-608. 1994
|
| 21 | F9, F9D
|
| Haemophilia B due to a De novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene.
|
| Vidaud D, et al.
|
| Eur J Hum Genet 1 : 30-36. 1993
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| 22 | F9
|
| Factor IX Fukuoka. Substitution of ASN92 by his in the second epidermal growth factor-like domain results in defective interaction with factors VIIIa/X.
|
| Nishimura H, et al.
|
| J Biol Chem 268 : 24041-24046. 1993
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| 23 | F9
|
| A polymorphic MseI site 5' to the factor IX gene varies among ethnic groups.
|
| Weinmann AF, et al.
|
| Hum Mol Genet 2 : 486. 1993
|
| 24 | F9
|
| Vertical integration of cosmid and YAC resources for interval mapping on the X-chromosome.
|
| Holland J, et al.
|
| Genomics 15 : 297-304. 1993
|
| 25 | F9
|
| Five novel factor IX mutations in unrelated hemophilia B families.
|
| Chen SH, et al.
|
| Hum Mol Genet 2 : 599-600. 1993
|
| 26 | F9
|
| The pattern of spontaneous germ-line mutation : relative rates of mutation at or near CpG dinucleotides in the factor IX gene.
|
| Bottema CDK, et al.
|
| Hum Genet 91 : 496-503. 1993
|
| 27 | F9, F9D
|
| A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B.
|
| Vielhaber E, et al.
|
| Hum Mol Genet 2 : 1309-1310. 1993
|
| 28 | F9, F9D
|
| Hemophilia B Leyden : substitution of thymine for guanine at position -21 results in a disruption of a hepatocyte nuclear factor 4 binding site in the factor IX promoter.
|
| Reijnen MJ, et al.
|
| Blood 82 : 151-158. 1993
|
| 29 | F9, F9D
|
| Haemophilia B : database of point mutations and short additions and deletions (fourth edition, 1993).
|
| Giannelli F, et al.
|
| Nucleic Acids Res 21 : 3075-3087. 1993
|
| 30 | F9
|
| Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B.
|
| David D, et al.
|
| Hum Mutat 2 : 355-361. 1993
|
| 31 | F9
|
| Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.
|
| Ketterling RP, et al.
|
| Am J Hum Genet 52 : 152-166. 1993
|
| 32 | HPRT1, F9
|
| Yeast artificial chromosomes spanning 8 megabases and 10-15 centimorgans of human cytogenetic band Xq26.
|
| Little RD, et al.
|
| Proc Natl Acad Sci U S A 89 : 177-181. 1992
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| 33 | F9
|
| Parental origin of factor IX gene mutations, and their distribution in the gene.
|
| Ludwig M, et al.
|
| Am J Hum Genet 50 : 164-173. 1992
|
| 34 | F9
|
| Factor IX(Madrid 2) : a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon iv-intron d splice site.
|
| Solera J, et al.
|
| Am J Hum Genet 50 : 434-437. 1992
|
| 35 | F9
|
| An A to T transversion at position -5 of the factor IX promoter results in hemophilia B.
|
| Picketts DJ, et al.
|
| Genomics 12 : 161-163. 1992
|
| 36 | F9
|
| Hemophilia B caused by five different nondeletion mutations in protease domain of factor IX.
|
| Ludwig M, et al.
|
| Blood 79 : 1225-1232. 1992
|
| 37 | F9
|
| Identification of factor IX mutations in haemophilia B : application of polymerase chain reaction and single strand conformation analysis.
|
| Fraser BM, et al.
|
| Hum Genet 88 : 426-430. 1992
|
| 38 | F9
|
| Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).
|
| Taylor SAM, et al.
|
| Proc Natl Acad Sci U S A 88 : 39-42. 1991
|
| 39 | F9
|
| CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in the hemophilia B patients: a Seattle series.
|
| Chen SH, et al.
|
| Hum Genet 87 : 177-182. 1991
|
| 40 | F9
|
| Factor IX Amagasaki : a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities.
|
| Miyata T, et al.
|
| Biochemistry 30 : 11286-11291. 1991
|
| 41 | F9
|
| Factor IX(Basel) : a Swiss family with severe haemophilia B, having a point mutation in EGF type B domain.
|
| Alkan M, et al.
|
| Nucleic Acids Res 19 : 409. 1991
|
| 42 | F9
|
| Identification of haemophilia B patients with mutations in the two calcium binding domains of factor IX : importance of a beta-OH Asp 64-Asn change.
|
| Winship PR, et al.
|
| Br J Haematol 77 : 102-109. 1991
|
| 43 | F9
|
| The varying frequencies of five DNA polymorphisms of X-linked coagulant factor IX in eight ethnic groups.
|
| Graham JB, et al.
|
| Am J Hum Genet 49 : 537-544. 1991
|
| 44 | F9
|
| Polymerase chain reaction detection of the Dde I polymorphism in the factor 9 gene for fragile X linkage analysis.
|
| Dobkin CS, et al.
|
| Am J Med Genet 38 : 378-379. 1991
|
| 45 | F9
|
| Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction.
|
| Bowen DJ, et al.
|
| Br J Haematol 77 : 559-560. 1991
|
| 46 | F9, IDS
|
| Genetic mapping of new RFLPs at Xq27-q28.
|
| Suthers GK, et al.
|
| Genomics 9 : 37-43. 1991
|
| 47 | F9
|
| Missense mutations and evolutionary conservation of amino acids : evidence that many of the amino acids in factor IX function as spacer elements.
|
| Bottema CDK, et al.
|
| Am J Hum Genet 49 : 820-838. 1991
|
| 48 | F9
|
| Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B.
|
| Crossley M, et al.
|
| Nature 345 : 444-446. 1990
|
| 49 | F9
|
| Haemophilia B: database of point mutations and short additions and deletions.
|
| Giannelli F, et al.
|
| Nucleic Acids Res 18 : 4053-4059. 1990
|
| 50 | F9
|
| Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX (Seattle I).
|
| Chen SH, et al.
|
| Am J Hum Genet 47 : 1020-1022. 1990
|
| 51 | F9
|
| Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.
|
| Koeberl DD, et al.
|
| Hum Genet 84 : 387-390. 1990
|
| 52 | F9
|
| Two factor IX mutations in the family of an isolated haemophilia B patient : direct carrier diagnosis by amplification mismatch detection (AMD).
|
| Montandon AJ, et al.
|
| Hum Genet 85 : 200-204. 1990
|
| 53 | F9
|
| DGGE detection of Hhal polymorphism in the F9 gene.
|
| Caprino D, et al.
|
| Nucleic Acids Res 18 : 4960. 1990
|
| 54 | F9
|
| Identification of a factor IX point mutation using SSCP analysis and direct sequencing.
|
| Demers DB, et al.
|
| Nucleic Acids Res 18 : 5575. 1990
|
| 55 | F9
|
| Direct detection of the deletion-insertion polymorphism of the factor IX gene by analysis of amplified DNA sequences (PCR).
|
| Hanauer A, et al.
|
| Thromb Res 59 : 219-220. 1990
|
| 56 | F9, DXS102, DXS400, DXS401, DXS402
|
| Large-scale mapping and chromosome jumping in the q27 region of the human X chromosome.
|
| Nguyen C, et al.
|
| Genomics 5 : 298-303. 1989
|
| 57 | F9
|
| Physical mapping of probes proximal to the fragile X locus (FRAX) confirms the order F9-DXS105 (cX55.7)-DXS98 (4D8)-FRAXA.
|
| Sauer SM, et al.
|
| Cytogenet Cell Genet 50 : 172-173. 1989
|
| 58 | F9
|
| Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.
|
| Attree O, et al.
|
| Genomics 4 : 266-272. 1989
|
| 59 | F9
|
| Functionally important regions of the factor IX gene have a low rate of polymorphism and high rate of mutation in the dinucleotide CpG.
|
| Koeberl DD, et al.
|
| Am J Hum Genet 45 : 448-457. 1989
|
| 60 | F9
|
| Molecular pathology of haemophilia B.
|
| Green PM, et al.
|
| EMBO J 8 : 1067-1072. 1989
|
| 61 | F9, MCF2
|
| Deletion of the mcf.2 transforming gene in two hemophilia B inhibitor patients.
|
| Blake DJ, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 963. 1989
|
| 62 | F9
|
| Factor IX(Portland) : a nonsense mutation (CGA to TGA) resulting in hemophilia B.
|
| Chen SH, et al.
|
| Am J Hum Genet 44 : 567-569. 1989
|
| 63 | F9
|
| A codon 338 nonsense mutation in the factor IX gene in unrelated hemophilia B patients : factor IX(338-New York).
|
| Driscoll MC, et al.
|
| Blood 74 : 737-742. 1989
|
| 64 | F9
|
| The use of DNA amplification for genetic counselling related diagnosis in haemophilia B.
|
| Tsang TC, et al.
|
| Thromb Haemost 61 : 343-347. 1989
|
| 65 | F9
|
| Direct detection of point mutations by mismatch analysis : application to haemophilia B.
|
| Montandon AJ, et al.
|
| Nucleic Acids Res 17 : 3347-3358. 1989
|
| 66 | F8, F8D, F9
|
| Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers.
|
| Winship PR, et al.
|
| Lancet I : 631-634. 1989
|
| 67 | F8, F8D, F9
|
| The molecular genetics of hemophilia A and B in man: factor VIII and factor IX deficiency.
|
| Antonarakis SE.
|
| Adv Hum Genet 17 : 27-55. 1988
|
| 68 | F9
|
| Hemophilia B Durham : a mutation in the first EGF-like domain of factor IX that is characterized by polymerase chain reaction.
|
| Denton PH, et al.
|
| Blood 72 : 1407-1411. 1988
|
| 69 | F9
|
| Identification of a CpG mutation in the coagulation factor-IX gene by analysis of amplified DNA sequences.
|
| Siguret V, et al.
|
| Br J Haematol 70 : 411-416. 1988
|
| 70 | F9
|
| A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism.
|
| Tsang TC, et al.
|
| EMBO J 7 : 3009-3015. 1988
|
| 71 | F9, FRAXA, DXS102, DXS105, DXS119, DXS152, DXS115
|
| Genetic mapping of the Xq27-q28 region : new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.
|
| Arveiler B, et al.
|
| Am J Hum Genet 42 : 380-389. 1988
|
| 72 | F9, MCF2, DXS400
|
| Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients.
|
| Anson DS, et al.
|
| EMBO J 7 : 2795-2799. 1988
|
| 73 | F9, FRAXA
|
| The use of distal deletions of Xq to order loci between factor IX and the fragile X site (Xq27.3).
|
| Schwartz C, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 688. 1987
|
| 74 | DXS99, F9
|
| A DNA marker closely linked to the factor IX (haemophilia B) gene.
|
| Mulligan L, et al.
|
| Hum Genet 75 : 381-383. 1987
|
| 75 | F9
|
| X;autosome translocations in females with X-linked recessive diseases.
|
| Vianna-Morgante AM, et al.
|
| 7th Int Congr Hum Genet I : 97. 1987
|
| 76 | F9
|
| Two sisters with a distal deletion at the Xq26/Xq27 interface : DNA studies indicate that the gene locus for factor IX is present.
|
| Schwartz C, et al.
|
| Hum Genet 76 : 54-57. 1987
|
| 77 | F9
|
| MspI polymorphic site within the factor IX gene.
|
| Freedenberg DL, et al.
|
| Hum Genet 76 : 262-264. 1987
|
| 78 | F9, MCF2
|
| Large scale physical mapping in the q27 region of the human X chromosome : the coagulation factor IX gene and the mcf.2 transforming sequence are separated by at most 270 kilobase pairs and are surrounded by several 'HTF islands'.
|
| Nguyen C, et al.
|
| EMBO J 6 : 3285-3289. 1987
|
| 79 | DXS102, DXS107, DXS15, DXS51, DXS52, F8, F8D, F9, FRAXA
|
| Linkage analysis using multiple Xq DNA polymorphisms in normal families, families with the fragile X syndrome, and other families with X linked conditions.
|
| Connor JM, et al.
|
| J Med Genet 24 : 14-22. 1987
|
| 80 | F9
|
| A De novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B.
|
| Vidaud M, et al.
|
| Blood 68 : 961-963. 1986
|
| 81 | F9
|
| Localization by in situ hybridization of the coagulation factor IX geneand of two polymorphic DNA probes with respect to the fragile X site.
|
| Mattei MG, et al.
|
| Hum Genet 69 : 327-331. 1985
|
| 82 | FRAXA, FRAXB, FRAXC, F9
|
| Recombinaison entre le site fragile Xq27 et le gne du facteur IX de la coagulation.
|
| Landoulsi A, et al.
|
| Ann Genet 28 : 201-205. 1985
|
| 83 | DXS15, DXS52, F8, F8D, F9
|
| The human genes for hemophilia A and hemophilia B flank the Xchromosome fragile site at Xq27.3.
|
| Purrello M, et al.
|
| EMBO J 4 : 725-729. 1985
|
| 84 | F9
|
| Linkage and recombination between fragile X-linked mental retardation and the factor IX gene.
|
| Warren ST, Glover TW, Davidson RL, Jagadeeswaran P.
|
| Hum Genet 69(1):44-6. 1985
|
| 85 | F9
|
| Fine assignment of the coagulation factor IX gene.
|
| Buckle VJ, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 593-594. 1985
|
| 86 | F9
|
| A new MspI restriction fragment length polymorphism in the hemophilia B locus.
|
| Camerino G, et al.
|
| Hum Genet 71 : 79-81. 1985
|
| 87 | FRAXA, F9
|
| Evidence against close linkage for fra(Xq) of Martin-Bell syndrome and for factor IX.
|
| Zoll B, et al.
|
| Hum Genet 71 : 122-126. 1985
|
| 88 | F9
|
| Carrier detection in hemophilia B using two further intragenicrestriction fragment length polymorphisms.
|
| Winship PR, et al.
|
| Nucleic Acids Res 12 : 8861-8872. 1984
|
| 89 | F9
|
| Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).
|
| Camerino G, et al.
|
| Proc Natl Acad Sci U S A 81 : 498-502. 1984
|
| 90 | DXS30, DXS32, DXS53, DXS54, DXS61, F9
|
| Regional mapping of coagulation factor IX gene and of several unique DNA sequences on the human chromosome X.
|
| Camerino G, et al.
|
| (HGM7) Cytogenet Cell Genet 37 : 431-432. 1984
|
| 91 | F9
|
| Linkage analysis of X-linked mental retardation with and without fragile-X using factor IX gene probe.
|
| Choo KH, et al.
|
| Lancet II : 349. 1984
|
| 92 | F9, FRAXA
|
| Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male.
|
| Camerino G, et al.
|
| Nature 306 : 701-704. 1983
|
| 93 | F9
|
| Molecular cloning of the gene for human anti-haemophiliac factor IX.
|
| Choo KH, et al.
|
| Nature 299 : 178-180. 1982
|