BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

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]
    of 11.