Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation.

Nature genetics - 1 Feb 1993

Picketts D J, Lillicrap D P, Mueller C R

Abstract excerpt

Haemophilia B Leyden is characterized by low childhood levels of factor IX which gradually increase after puberty, eventually resulting in a return to health. The disease is the result of single nucleotide substitutions within a 40 bp region encompassing the major transcriptional start site. We have characterized transcription factor binding sites within the factor IX promoter. Five sites were identified and a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Base Sequence
Share to Binding Sites

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Molecular Sequence Data

Share to Phenotype

Source

Identifiers

PMID: 8499951
DOI: 10.1038/ng0293-175

Genes

DBP
EBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation.PMID 8499951Read ↗

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

A single base pair deletion in the promoter region of the factor IX gene is associated with haemophilia B.Semantic proximity Read ↗

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

Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden.Semantic proximity Read ↗

A CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B Leyden.Semantic proximity Read ↗

Hemophilia B Leyden and once mysterious cis-regulatory mutations.Semantic proximity Read ↗

Haemophilia B Leyden: the effect of mutations at position +13 on the liver-specific transcription of the factor IX gene.Semantic proximity Read ↗

Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden.Semantic proximity Read ↗

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.Semantic proximity Read ↗

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 promoterSemantic proximity Read ↗

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

Haemophilia B Brandenberg-type promoter mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.