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

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

Science (New York, N.Y.) - 17 Jul 1992

Crossley M, Ludwig M, Stowell K M, De Vos P, Olek K, Brownlee G G

Abstract excerpt

One form of the inherited, X-linked, bleeding disorder, hemophilia B, resolves after puberty. Mutations at -20 and -26 in the clotting factor IX promoter impair transcription by disrupting the binding site for the liver-enriched transcription factor LF-A1/HNF4. The -26 but not the -20 mutation also disrupts an androgen-responsive element, which overlaps the LF-A1/HNF4 site. This explains the improvement seen in...

Read the complete abstract on PubMed

Topics

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

Share to Binding Sites
Share to Base Sequence
Share to Cloning, Molecular

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

Share to Molecular Sequence Data

Share to Mutation

Share to Promoter Regions, Genetic

Share to Transcription Factors

Share to Transcription, Genetic

Source

Identifiers

PMID: 1631558
DOI: 10.1126/science.1631558

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

Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter.PMID 1631558Read ↗

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 promoterSemantic proximity Read ↗

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

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

Further evidence for the importance of an androgen response element in the factor IX promoter.Semantic proximity Read ↗

Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation.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 C/EBP binding site in the factor IX promoter is associated with haemophilia B.Semantic proximity Read ↗

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

Regulatory mechanism of human factor IX gene: protein binding at the Leyden-specific region.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 ↗

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 ↗

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

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