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 promoter.

No abstract is available for this paper.

• Publication year

  1993

• Venue

  Blood

• Publication date

  1993-07-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1182/BLOOD.V82.1.151.BLOODJOURNAL821151PMID 8324220
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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

  1992cited by this paper
• Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992.

  1992cited by this paper
• Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden.

  1992cited by this paper
• Interaction of androgen response elements with the DNA-binding domain of the rat androgen receptor expressed in Escherichia coli.

  1991cited by this paper
• Comparative sequence analysis of mammalian factor IX promoters.

  1990cited by this paper
• Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B

  1990cited by this paper
• Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden.

  1990cited by this paper
• Liver-enriched transcription factor HNF-4 is a novel member of the steroid hormone receptor superfamily.

  1990cited by this paper
• A domain containing leucine-zipper-like motifs mediate novel in vivo interactions between the thyroid hormone and retinoic acid receptors.

  1989cited by this paper
• Positive and negative regulation of gene transcription by a retinoic acid-thyroid hormone receptor heterodimer.

  1989cited by this paper
• Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

  1988cited by this paper
• Structure, function, and molecular defects of factor IX.

  1986cited by this paper
• Rabbit Polyclonal Antibodies Against the Calcium-Dependent Conformation of Factor IX and Their Application in Solid Phase Immunoradiometric Assays

  1986cited by this paper
• Purification of nuclear factor I by DNA recognition site affinity chromatography.

  1986cited by this paper
• Tissue-specific in vitro transcription from the mouse albumin promoter.

  1986cited by this paper
• The prophylactic treatment of hemophilia B Leyden with anabolic steroids.

  1985cited by this paper
• Two distinct enhancers with different cell specificities coexist in the regulatory region of polyoma.

  1984cited by this paper
• Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei.

  1983cited by this paper
• Hemophilia B Leyden: a sex-linked hereditary disorder that improves after puberty.

  1982cited by this paper
• Detection of the Carrier State in Hereditary Coagulation Disorders II

  1968cited by this paper

• Uniform processing and analysis of IGVF massively parallel reporter assay data with MPRAsnakeflow

  2025cites this paper
• Hepatocyte Nuclear Factor 4 Alpha: A Key Regulator of Liver Disease Pathology and Haemostatic Disorders

  2025cites this paper
• Testing strategies used in the diagnosis of rare inherited bleeding disorders

  2023cites this paper
• Maternal Hematologic Conditions and Fetal/Neonatal Outcomes of Pregnancy.

  2021cites this paper
• Hemophilia B Leyden: Literature and Our Data

  2021cites this paper
• Molecular Genetic Nomenclature

  2019cites this paper
• The molecular basis of hemophilia

  2019cites this paper
• Nonneoplastic Hematological Disorders

  2019cites this paper
• Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

  2019cites this paper
• Genotype-Phenotype Heterogeneity in Haemophilia

  2019cites this paper
• 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 promoter

  2018cites this paper
• Epidemiología y análisis genético de la hemofilia a en Andalucía

  2017cites this paper
• Mutational analysis of hemophilia B in Russia: Molecular-genetic study

  2016cites this paper
• Diabetes-linked transcription factor HNF4α regulates metabolism of endogenous methylarginines and β-aminoisobutyric acid by controlling expression of alanine-glyoxylate aminotransferase 2

  2016cites this paper
• Genetics and classification of hemophilia

  2014cites this paper
• Multi-species, multi-transcription factor binding highlights conserved control of tissue-specific biological pathways

  2014influential citation
• Hemophilia B Leyden and once mysterious cis-regulatory mutations.

  2014cites this paper
• The CDC Hemophilia B mutation project mutation list: a new online resource

  2013cites this paper
• PPARα/HNF4α interplay on diversified responsive elements. Relevance in the regulation of liver peroxisomal fatty acid catabolism.

  2012cites this paper
• Identification and analysis of the promoter region of the human DHCR24 gene: involvement of DNA methylation and histone acetylation

  2011cites this paper
• Mutation in the factor VII hepatocyte nuclear factor 4&agr;-binding site contributes to factor VII deficiency

  2011cites this paper
• Inherited disorders of coagulation

  2011cites this paper
• hemophilia B Leyden mutations acting elements and the deleterious effects of naturally occurring Transcriptional control of the factor IX gene: analysis of five cis-

  2011cites this paper
• The coagulation factor Xa/protease activated receptor-2 axis in the progression of liver fibrosis: a multifaceted paradigm

  2009cites this paper
• Normal HPRT coding region in complete and partial HPRT deficiency.

  2008cites this paper
• Congenital bleeding disorders of the vitamin K-dependent clotting factors.

  2008cites this paper
• Identification and functional characterization of a polymorphic oestrogen response element in the human coagulation factor IX gene promoter

  2007cites this paper
• A genetic basis for the interrelation of coagulation factors

  2007cites this paper
• Regulatory Gene Mutations Affecting Apolipoprotein Gene Expression: Functions and Regulatory Behavior of Known Genes May Guide Future Pharmacogenomic Approaches to Therapy

  2003cites this paper
• Cloning and Characterization of the Human Factor XI Gene Promoter

  2002cites this paper
• Development of Coagulation Regulatory Proteins in the Fetal and Neonatal Lamb

  2002cites this paper
• Defective Ureagenesis in Mice Carrying a Liver-specific Disruption of Hepatocyte Nuclear Factor 4α (HNF4α)

  2002cites this paper
• Defective ureagenesis in mice carrying a liver-specific disruption of hepatocyte nuclear factor 4alpha (HNF4alpha ). HNF4alpha regulates ornithine transcarbamylase in vivo.

  2002cites this paper
• Hepatocyte Nuclear Factor 4α

  2001cites this paper
• Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.

  2001cites this paper
• Gene therapy expression vectors based on the clotting Factor IX promoter

  1999cites this paper
• Identification of new mutations in the hepatocyte nuclear factor 4a gene among families with early onset Type 2 diabetes mellitus

  1999cites this paper
• Haemophilia B: database of point mutations and short additions and deletions--eighth edition

  1998cites this paper
• Further evidence for the importance of an androgen response element in the factor IX promoter

  1997influential citation
• Binding of the Ets factor GA-binding protein to an upstream site in the factor IX promoter is a critical event in transactivation

  1996cites this paper
• Haemophilia B (sixth edition): a database of point mutations and short additions and deletions

  1996cites this paper
• Transcriptional regulation of the human factor IX promoter by the orphan receptor superfamily factors, HNF4, ARP1 and COUP/Ear3

  1996cites this paper
• Constitutive Expression of Murine Complement Factor B Gene Is Regulated by the Interaction of Its Upstream Promoter with Hepatocyte Nuclear Factor 4*

  1996cites this paper
• Role of the liver-enriched transcription factor hepatocyte nuclear factor 1 in transcriptional regulation of the factor V111 gene

  1996cites this paper
• Transcription factors 3: nuclear receptors.

  1995cites this paper
• The high frequency of the — 6G → A factor IX promoter mutation is the result both of a founder effect and recurrent mutation at a CpG dinucleotide

  1995cites this paper
• Regulatory mechanism of human factor IX gene: protein binding at the Leyden-specific region.

  1995cites this paper
• Role of Intron I in Expression of the Human Factor IX Gene (*)

  1995cites this paper
• 4 The Hemophilias

  1995cites this paper
• The hemophilias.

  1995cites this paper
• Liver-specific expression of the human factor VII gene.

  1995cites this paper
• Orphan Nuclear Receptor HNF-4 Binds to the Human Coagulation Factor VII Promoter (*)

  1995cites this paper
• Transcriptional control of the factor IX gene: analysis of five cis-acting elements and the deleterious effects of naturally occurring hemophilia B Leyden mutations.

  1994cites this paper
• Regulatory mechanism of human factor IX gene: protein binding at the Leyden-specific region.

  1994cites this paper
• Haemophilia B Leyden: the effect of mutations at position +13 on the liver-specific transcription of the factor IX gene.

  1994cites this paper
• Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.

  1994cites this paper
• Moderate hemophilia B leyden: Identification by polymerase chain reaction, sequencing, and oligomer restriction

  1994cites this paper
• A Single Base Pair Deletion in the Promoter Region of the Factor IX Gene Is Associated with Haemophilia B

  1994cites this paper
• Haemophilia B: database of point mutations and short additions and deletions, 7th edition

  1990cites this paper