(Q34507288)

English

Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions

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scholarly article

1 reference

Europe PubMed Central

2 August 2017

Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions (English)

1 reference

Europe PubMed Central

2 August 2017

congenital disorder

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congenital erythropoietic porphyria

1 reference

based on heuristic

inferred from title

Erythropoietic porphyria

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Robert J. Desnick

8

object named as

Robert J Desnick

1 reference

Europe PubMed Central

2 August 2017

author name string

David F Bishop

1

1 reference

Europe PubMed Central

2 August 2017

Annika Johansson

2

1 reference

Europe PubMed Central

2 August 2017

Robert Phelps

3

1 reference

Europe PubMed Central

2 August 2017

Amr A Shady

4

1 reference

Europe PubMed Central

2 August 2017

Maria C M Ramirez

5

1 reference

Europe PubMed Central

2 August 2017

Makiko Yasuda

6

1 reference

Europe PubMed Central

2 August 2017

Andres Caro

7

1 reference

Europe PubMed Central

2 August 2017

language of work or name

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publication date

9 February 2006

1 reference

Europe PubMed Central

2 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

2 August 2017

78

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Europe PubMed Central

2 August 2017

4

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Europe PubMed Central

2 August 2017

645-658

1 reference

Europe PubMed Central

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

A knock-in mouse model of congenital erythropoietic porphyria.

1 reference

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7 July 2018

THE CARBON MONOXIDE-BINDING PIGMENT OF LIVER MICROSOMES. I. EVIDENCE FOR ITS HEMOPROTEIN NATURE

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Lentivirus-mediated gene transfer of uroporphyrinogen III synthase fully corrects the porphyric phenotype in human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Hemoprotein Bach1 regulates enhancer availability of heme oxygenase-1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Congenital erythropoietic porphyria: advances in pathogenesis and treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Correction of deficient CD34+ cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

A mouse model of familial porphyria cutanea tarda

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Mouse zeta- and alpha-globin genes: embryonic survival, alpha-thalassemia, and genetic background effects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Congenital erythropoietic porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Mice lacking p21CIP1/WAF1 undergo normal development, but are defective in G1 checkpoint control

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Biosynthesis of the pigments of life: formation of the macrocycle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Uroporphyrinogen 3 cosynthetase in human congenital erythropoietic porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Congenital erythropoietic porphyria. An autopsy report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Late onset erythropoietic porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Simplified mammalian DNA isolation procedure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

7 July 2018

Human Gene Mutation Database (HGMD): 2003 update.

1 reference

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27 October 2018

Congenital erythropoietic porphyria: dilemmas in present day management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

27 October 2018

Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424695

9 December 2018

Hydroxyurea in congenital erythropoietic porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/16532394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assays of the heme biosynthetic enzymes. Preface

1 reference

https://pubmed.ncbi.nlm.nih.gov/16532394

12 December 2020

based on heuristic

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Rapid stimulation of hepatic microsomal heme oxygenase in selenium-deficient rats. An effect of phenobarbital

1 reference

https://pubmed.ncbi.nlm.nih.gov/16532394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-performance liquid chromatography of porphyrins

1 reference

https://pubmed.ncbi.nlm.nih.gov/16532394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions

1 reference

https://pubmed.ncbi.nlm.nih.gov/16532394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The erythropoietic porphyrias

1 reference

https://pubmed.ncbi.nlm.nih.gov/16532394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Induction of skin fibrosis and autoantibodies by infusion of immunocompetent cells from tight skin mice into C57BL/6 Pa/Pa mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/16532394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Study of reproducibility of spin trapping results in the use of C-phenyl-N-tert-butyl nitrone (PBN) for trichloromethyl radical detection in CCl4 metabolism by rat liver microsomal dispersions. Biological spin trapping I

1 reference

https://pubmed.ncbi.nlm.nih.gov/16532394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16532394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-performance liquid chromatography of uroporphyrin and coproporphyrin isomers

1 reference

https://pubmed.ncbi.nlm.nih.gov/16532394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved method to extract and concentrate porphyrins from liver tissue for analysis by high-performance liquid chromatography

1 reference

https://pubmed.ncbi.nlm.nih.gov/16532394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectral Analyses of Cytochromes P450

1 reference

https://pubmed.ncbi.nlm.nih.gov/16532394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital erythropoietic porphyria. Report of a case

1 reference

https://pubmed.ncbi.nlm.nih.gov/16532394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

1 reference

Europe PubMed Central

2 August 2017

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