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Items: 11

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 F9 gene promoter
Bertram Brenig, Lilith Steingräber, Shuwen Shan, Fangzheng Xu, Marc Hirschfeld, Reiner Andag, Mirjam Spengeler, Elisabeth Dietschi, Reinhard Mischke, Tosso Leeb
Haematologica. 2019 Nov; 104(11): 2307–2313. Prepublished online 2019 Mar 7. doi: 10.3324/haematol.2018.215426
PMCID:
PMC6821609
AbstractArticlePDF–1.0M
2.
A CpG Mutational Hotspot in a ONECUT Binding Site Accounts for the Prevalent Variant of Hemophilia B Leyden
Alister P.W. Funnell, Michael D. Wilson, Benoit Ballester, Ka Sin Mak, Jon Burdach, Natisha Magan, Richard C.M. Pearson, Frederic P. Lemaigre, Kathryn M. Stowell, Duncan T. Odom, Paul Flicek, Merlin Crossley
Am J Hum Genet. 2013 Mar 7; 92(3): 460–467. doi: 10.1016/j.ajhg.2013.02.003
PMCID:
PMC3591849
AbstractArticlePDF–737K
3.
An age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B Leyden
Sumiko Kurachi, Jeffrey S. Huo, Afshin Ameri, Kezhong Zhang, Akiyasu C. Yoshizawa, Kotoku Kurachi
Proc Natl Acad Sci U S A. 2009 May 12; 106(19): 7921–7926. Published online 2009 Apr 28. doi: 10.1073/pnas.0902191106
PMCID:
PMC2674395
AbstractArticlePDF–603K
4.
Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden.
M J Reijnen, F M Sladek, R M Bertina, P H Reitsma
Proc Natl Acad Sci U S A. 1992 Jul 15; 89(14): 6300–6303. doi: 10.1073/pnas.89.14.6300
PMCID:
PMC49488
SummaryPage BrowsePDF–974K
5.
The Molecular Basis of FIX Deficiency in Hemophilia B
Guomin Shen, Meng Gao, Qing Cao, Weikai Li
Int J Mol Sci. 2022 Mar; 23(5): 2762. Published online 2022 Mar 2. doi: 10.3390/ijms23052762
PMCID:
PMC8911121
AbstractArticlePDF–1.9M
6.
Hemophilia B: molecular pathogenesis and mutation analysis
A. C. Goodeve
J Thromb Haemost. 2015 Jul; 13(7): 1184–1195. Published online 2015 May 18. doi: 10.1111/jth.12958
PMCID:
PMC4496316
AbstractArticlePDF–324K
7.
An Experimental Verification of the Predicted Effects of Promoter TATA-Box Polymorphisms Associated with Human Diseases on Interactions between the TATA Boxes and TATA-Binding Protein
Ludmila Savinkova, Irina Drachkova, Tatyana Arshinova, Petr Ponomarenko, Mikhail Ponomarenko, Nikolay Kolchanov
PLoS One. 2013; 8(2): e54626. Published online 2013 Feb 12. doi: 10.1371/journal.pone.0054626
PMCID:
PMC3570547
AbstractArticlePDF–375K
8.
Binding of the Ets factor GA-binding protein to an upstream site in the factor IX promoter is a critical event in transactivation.
L M Boccia, D Lillicrap, K Newcombe, C R Mueller
Mol Cell Biol. 1996 May; 16(5): 1929–1935. doi: 10.1128/mcb.16.5.1929
PMCID:
PMC231180
SummaryPDF–337K
9.
Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden.
S Hirosawa, J B Fahner, J P Salier, C T Wu, E W Lovrien, K Kurachi
Proc Natl Acad Sci U S A. 1990 Jun; 87(12): 4421–4425. doi: 10.1073/pnas.87.12.4421
PMCID:
PMC54126
SummaryPage BrowsePDF–1.2M
10.
Real-Time Interaction between TBP and the TATA Box of the Human Triosephosphate Isomerase Gene Promoter in the Norm and Pathology
O. V. Arkova, N. A. Kuznetsov, O. S. Fedorova, N. A. Kolchanov, L. K. Savinkova
Acta Naturae. 2014 Apr-Jun; 6(2): 36–40.
PMCID:
PMC4115224
AbstractArticlePDF–186K
11.
Identification of cis-regulatory sequence variations in individual genome sequences
Rebecca Worsley-Hunt, Virginie Bernard, Wyeth W Wasserman
Genome Med. 2011; 3(10): 65. Published online 2011 Oct 10. doi: 10.1186/gm281
PMCID:
PMC3239227
AbstractArticlePDF–1.0M

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