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

doi:10.1073/pnas.87.12.4421

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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 1 Jun 1990

Hirosawa S, Fahner J B, Salier J P, Wu C T, Lovrien E W, Kurachi K

Abstract excerpt

Hemophilia B Leyden is characterized by unusual developmental regulation of factor IX synthesis in affected individuals. One family affected with the hemophilia B Leyden phenotype was found to have a specific single-base mutation (G----A) at nucleotide -6 of the factor IX gene. The mutation site...

Topics

Aging
Androgens
Base Sequence
Cell Line
Chloramphenicol O-Acetyltransferase
Exons
Factor IX
Gene Expression Regulation
Genes
Genetic Vectors
Hemophilia A
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Male

Molecular Sequence Data

Mutation

Oligonucleotide Probes

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 2352926
DOI: 10.1073/pnas.87.12.4421
PMCID: PMC54126

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2352926-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden.PMID 2352926Read ↗

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

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 ↗

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

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 ↗

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

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

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

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

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

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