216 related articles for article (PubMed ID: 30846504)
1. Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the
Brenig B; Steingräber L; Shan S; Xu F; Hirschfeld M; Andag R; Spengeler M; Dietschi E; Mischke R; Leeb T
Haematologica; 2019 Nov; 104(11):2307-2313. PubMed ID: 30846504
[TBL] [Abstract][Full Text] [Related]
2. 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; Peerlinck K; Maasdam D; Bertina RM; Reitsma PH
Blood; 1993 Jul; 82(1):151-8. PubMed ID: 8324220
[TBL] [Abstract][Full Text] [Related]
3. Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden.
Reijnen MJ; Sladek FM; Bertina RM; Reitsma PH
Proc Natl Acad Sci U S A; 1992 Jul; 89(14):6300-3. PubMed ID: 1631121
[TBL] [Abstract][Full Text] [Related]
4. Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling.
Vidaud D; Tartary M; Costa JM; Bahnak BR; Gispert-Sanchez S; Fressinaud E; Gazengel C; Meyer D; Goossens M; Lavergne JM
Hum Genet; 1993 Apr; 91(3):241-4. PubMed ID: 8478007
[TBL] [Abstract][Full Text] [Related]
5. 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; 2013 Mar; 92(3):460-7. PubMed ID: 23472758
[TBL] [Abstract][Full Text] [Related]
6. Complete deletion of factor IX gene and inhibition of factor IX activity in a labrador retriever with hemophilia B.
Brooks MB; Gu W; Ray K
J Am Vet Med Assoc; 1997 Dec; 211(11):1418-21. PubMed ID: 9394892
[TBL] [Abstract][Full Text] [Related]
7. Transcriptional control of the factor IX gene: analysis of five cis-acting elements and the deleterious effects of naturally occurring hemophilia B Leyden mutations.
Picketts DJ; Mueller CR; Lillicrap D
Blood; 1994 Nov; 84(9):2992-3000. PubMed ID: 7949171
[TBL] [Abstract][Full Text] [Related]
8. Haemophilia B Leyden: the effect of mutations at position +13 on the liver-specific transcription of the factor IX gene.
Reijnen MJ; Maasdam D; Bertina RM; Reitsma PH
Blood Coagul Fibrinolysis; 1994 Jun; 5(3):341-8. PubMed ID: 8075306
[TBL] [Abstract][Full Text] [Related]
9. Muscle-directed gene transfer and transient immune suppression result in sustained partial correction of canine hemophilia B caused by a null mutation.
Herzog RW; Mount JD; Arruda VR; High KA; Lothrop CD
Mol Ther; 2001 Sep; 4(3):192-200. PubMed ID: 11545609
[TBL] [Abstract][Full Text] [Related]
10. A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs.
Brooks MB; Gu W; Barnas JL; Ray J; Ray K
Mamm Genome; 2003 Nov; 14(11):788-95. PubMed ID: 14722728
[TBL] [Abstract][Full Text] [Related]
11. Hemophilia B Leyden and once mysterious cis-regulatory mutations.
Funnell AP; Crossley M
Trends Genet; 2014 Jan; 30(1):18-23. PubMed ID: 24138812
[TBL] [Abstract][Full Text] [Related]
12. Regulatory mechanism of human factor IX gene: protein binding at the Leyden-specific region.
Kurachi S; Furukawa M; Salier JP; Wu CT; Wilson EJ; French FS; Kurachi K
Biochemistry; 1994 Feb; 33(6):1580-91. PubMed ID: 8312279
[TBL] [Abstract][Full Text] [Related]
13. A Single Base Insertion in
Kuder H; Sandzhieva-Vuzzo L; Kehl A; Rappaport JM; Müller E; Giger U
Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680886
[TBL] [Abstract][Full Text] [Related]
14. Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B.
Crossley M; Brownlee GG
Nature; 1990 May; 345(6274):444-6. PubMed ID: 2342576
[TBL] [Abstract][Full Text] [Related]
15. Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (hemophilia B Leyden phenotype).
Reitsma PH; Mandalaki T; Kasper CK; Bertina RM; Briët E
Blood; 1989 Feb; 73(3):743-6. PubMed ID: 2917196
[TBL] [Abstract][Full Text] [Related]
16. Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation.
Picketts DJ; Lillicrap DP; Mueller CR
Nat Genet; 1993 Feb; 3(2):175-9. PubMed ID: 8499951
[TBL] [Abstract][Full Text] [Related]
17. Upstream region of rat serum albumin gene promoter contributes to promoter activity: presence of functional binding site for hepatocyte nuclear factor-3.
Hsiang CH; Marten NW; Straus DS
Biochem J; 1999 Mar; 338 ( Pt 2)(Pt 2):241-9. PubMed ID: 10024498
[TBL] [Abstract][Full Text] [Related]
18. Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.
Jourdy Y; Chatron N; Carage ML; Fretigny M; Meunier S; Zawadzki C; Gay V; Negrier C; Sanlaville D; Vinciguerra C
J Thromb Haemost; 2016 Oct; 14(10):1988-1993. PubMed ID: 27477789
[TBL] [Abstract][Full Text] [Related]
19. Efficient transfection of primary cells in a canine hemophilia B model using adenovirus-polylysine-DNA complexes.
Lozier JN; Thompson AR; Hu PC; Read M; Brinkhous KM; High KA; Curiel DT
Hum Gene Ther; 1994 Mar; 5(3):313-22. PubMed ID: 8018746
[TBL] [Abstract][Full Text] [Related]
20. [Double mutation, a 2-bp deletion and Val211Ile, in the blood coagulation factor IX gene of a patient with severe hemophilia B].
Seita I; Shinozawa K; Otaki M; Fujita S; Suzuki T; Amano K; Inaba H; Fukutake K
Rinsho Byori; 2009 May; 57(5):417-24. PubMed ID: 19522246
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]