(Q28360504)

inferred from title

Erythropoietic porphyria

1 reference

5

R J Desnick

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author name string

C Solis

1

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G I Aizencang

2

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K H Astrin

3

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D F Bishop

Journal of Clinical Investigation

4

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language of work or name

English

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publication date

March 2001

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published in

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volume

107

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issue

6

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page(s)

753-62

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cites work

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Cloning of factors related to HIV-inducible LBP proteins that regulate steroidogenic factor-1-independent human placental transcription of the cholesterol side-chain cleavage enzyme, P450scc

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The Fe65 adaptor protein interacts through its PID1 domain with the transcription factor CP2/LSF/LBP1

20 March 2017

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FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation

20 March 2017

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The LIM-only protein Lmo2 is a bridging molecule assembling an erythroid, DNA-binding complex which includes the TAL1, E47, GATA-1 and Ldb1/NLI proteins

20 March 2017

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Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1

20 March 2017

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Characterization of the genomic structure, chromosomal location, promoter, and development expression of the alpha-globin transcription factor CP2

20 March 2017

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Characterization of a family of related cellular transcription factors which can modulate human immunodeficiency virus type 1 transcription in vitro

20 March 2017

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Hemoglobin switching in man and chicken is mediated by a heteromeric complex between the ubiquitous transcription factor CP2 and a developmentally specific protein

20 March 2017

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Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping

20 March 2017

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Purification and properties of uroporphyrinogen III synthase from human erythrocytes

20 March 2017

1 reference

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Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA

20 March 2017

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Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

20 March 2017

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DNA sequencing with chain-terminating inhibitors

20 March 2017

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Characterization of the molecularly cloned murine alpha-globin transcription factor CP2

20 March 2017

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Cloning of cDNA for the major DNA-binding protein of the erythroid lineage through expression in mammalian cells

20 March 2017

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The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.

7 April 2017

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Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

Molecular basis of hereditary persistence of fetal hemoglobin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

GATA transcription factors: key regulators of hematopoiesis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

Functional synergy and physical interactions of the erythroid transcription factor GATA-1 with the Krüppel family proteins Sp1 and EKLF.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

Late onset erythropoietic porphyria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

Molecular genetics of congenital erythropoietic porphyria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

Congenital erythropoietic porphyria (Günther's disease): enzymatic studies on two cases of late onset.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=208941

Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3.

27 November 2018

1 reference

12 December 2020

Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

1 reference

12 December 2020

Alterations in protein-DNA interactions in the gamma-globin gene promoter in response to butyrate therapy

1 reference

12 December 2020

Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops foetalis

1 reference

12 December 2020