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Items: 1 to 20 of 99

1.

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 7;92(3):460-7. doi: 10.1016/j.ajhg.2013.02.003.

4.

Onecut1 and Onecut2 transcription factors operate downstream of Pax6 to regulate horizontal cell development.

Klimova L, Antosova B, Kuzelova A, Strnad H, Kozmik Z.

Dev Biol. 2015 Jun 1;402(1):48-60. doi: 10.1016/j.ydbio.2015.02.023. Epub 2015 Mar 18.

5.

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 15;89(14):6300-3.

6.

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.

PMID:
8075306
7.

Hemophilia B Leyden and once mysterious cis-regulatory mutations.

Funnell AP, Crossley M.

Trends Genet. 2014 Jan;30(1):18-23. doi: 10.1016/j.tig.2013.09.007. Epub 2013 Oct 16. Review.

PMID:
24138812
8.
9.

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.

PMID:
8499951
10.
11.

First case report of hemophilia B Leyden in Japan.

Yamashita A, Nagae C, Mori M, Ashikaga T, Kojima T, Taki M.

Int J Hematol. 2017 Jul;106(1):135-137. doi: 10.1007/s12185-017-2194-4. Epub 2017 Feb 7.

PMID:
28168417
12.

Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B.

Crossley M, Brownlee GG.

Nature. 1990 May 31;345(6274):444-6.

PMID:
2342576
13.

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, et al.

Hum Genet. 1993 Apr;91(3):241-4.

PMID:
8478007
14.

Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter.

Crossley M, Ludwig M, Stowell KM, De Vos P, Olek K, Brownlee GG.

Science. 1992 Jul 17;257(5068):377-9.

PMID:
1631558
15.

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 15;33(6):1580-91. Erratum in: Biochemistry. 1995 Oct 31;34(43):14270.

PMID:
8312279
16.

A case of non-resolving hemophilia B Leyden in a 42-year-old male (F9 promoter + 13 A>G).

James PD, Stakiw J, Leggo J, Walker I, Lillicrap D.

J Thromb Haemost. 2008 May;6(5):885-6. doi: 10.1111/j.1538-7836.2008.02940.x. Epub 2008 Feb 25. No abstract available.

17.

Haemophilia B Leyden arising de novo by point mutation in the putative factor IX promoter region.

Royle G, Van de Water NS, Berry E, Ockelford PA, Browett PJ.

Br J Haematol. 1991 Feb;77(2):191-4.

PMID:
2004020
18.

The putative factor IX gene promoter in hemophilia B Leyden.

Reitsma PH, Bertina RM, Ploos van Amstel JK, Riemens A, Briët E.

Blood. 1988 Sep;72(3):1074-6.

19.

Age-specific regulation of clotting factor IX gene expression in normal and transgenic mice.

Boland EJ, Liu YC, Walter CA, Herbert DC, Weaker FJ, Odom MW, Jagadeeswaran P.

Blood. 1995 Sep 15;86(6):2198-205.

20.

Hemophilia B: molecular pathogenesis and mutation analysis.

Goodeve AC.

J Thromb Haemost. 2015 Jul;13(7):1184-95. doi: 10.1111/jth.12958. Epub 2015 May 18. Review.

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