Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 113

1.

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
4.
5.

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
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.

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.

8.

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
9.

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.

10.
11.

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
12.

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.

13.

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
14.

An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B.

Rallapalli PM, Kemball-Cook G, Tuddenham EG, Gomez K, Perkins SJ.

J Thromb Haemost. 2013 Jul;11(7):1329-40. doi: 10.1111/jth.12276.

15.

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.

16.

An A to T transversion at position -5 of the factor IX promoter results in hemophilia B.

Picketts DJ, D'Souza C, Bridge PJ, Lillicrap D.

Genomics. 1992 Jan;12(1):161-3.

PMID:
1733855
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.

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
19.

Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX.

Ludwig M, Sabharwal AK, Brackmann HH, Olek K, Smith KJ, Birktoft JJ, Bajaj SP.

Blood. 1992 Mar 1;79(5):1225-32.

20.

Supplemental Content

Support Center