(Q24679530)

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Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency

scientific article published on April 1, 1991

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Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency (English)

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T. Katsube

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

N. Sakamoto

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

Y. Kobayashi

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

R. Seki

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

M. Hirano

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

K. Tanishima

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

A. Tomoda

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

E. Takazakura

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

T. Yubisui

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

M. Takeshita

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

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April 1991

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1707593/?tool=EBI

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1707593/pdf/?tool=EBI

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

https://europepmc.org/articles/PMC1682939

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

https://europepmc.org/articles/PMC1682939?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1707593

4 November 2022

American Journal of Human Genetics

0 references

48

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4

0 references

799-808

0 references

Biochemical variants of glucose-6-phosphate dehydrogenase giving rise to congenital nonspherocytic hemolytic disease

1 reference

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7 April 2017

A function of cytochrome b5 in fatty acid desaturation by rat liver microsomes

1 reference

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7 April 2017

Empirical Predictions of Protein Conformation

1 reference

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7 April 2017

Mechanism of C-5 double bond introduction in the biosynthesis of cholesterol by rat liver microsomes

1 reference

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7 April 2017

Molecular cloning of a cDNA encoding rat NADH-cytochrome b5 reductase and the corresponding gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

7 April 2017

Dideoxy sequencing method using denatured plasmid templates

1 reference

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7 April 2017

Alteration of NADH-diaphorase and cytochrome b5 reductase activities of erythrocytes, platelets, and leucocytes in hereditary methaemoglobinaemia with and without mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

28 September 2017

Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

28 September 2017

Complete amino acid sequence of NADH-cytochrome b5 reductase purified from human erythrocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

28 September 2017

Structural analysis of NADH-cytochrome b5 reductase in relation to hereditary methemoglobinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

28 September 2017

The organization and the complete nucleotide sequence of the human NADH-cytochrome b5 reductase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

28 September 2017

Isolation and characterization of the alkane-inducible NADPH-cytochrome P-450 oxidoreductase gene from Candida tropicalis. Identification of invariant residues within similar amino acid sequences of divergent flavoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

28 September 2017

Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

28 September 2017

Erythrocyte cytochrome b5; structure, role in methemoglobin reduction, and solubilization from endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

28 September 2017

Congenital Methemoglobin- Reductase (Cytochrome b<sub>5</sub> Reductase) Deficiency Associated with Mental Retardation in a Spanish Girl

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

28 September 2017

The reduction of methaemoglobin in red blood cells and studies on the cause of idiopathic methaemoglobinaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

30 May 2018

Hereditary methemoglobinemia due to cytochrome b5 reductase deficiency in blood cells without associated neurologic and mental disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

30 May 2018

Generalised deficiency of cytochrome b5 reductase in congenital methaemoglobinaemia with mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

30 May 2018

Familial idiopathic methaemoglobinaemia, associated with mental deficiency and neurological abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

28 November 2018

Lipids of myelin, white matter and gray matter in a case of generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

28 November 2018

Characterization of the purified NADH-cytochrome b5 reductase of human erythrocytes as a FAD-containing enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682939

28 November 2018

A novel ochre mutation in the beta-thalassemia gene of a Thai. Identification by direct cloning of the entire beta-globin gene amplified using polymerase chain reactions

1 reference

https://pubmed.ncbi.nlm.nih.gov/1707593

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation in the TATA box in a Japanese patient with beta +-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1707593

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete amino acid sequence of steer liver microsomal NADH-cytochrome b5 reductase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1707593

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NADPH-cytochrome P-450 oxidoreductase: flavin mononucleotide and flavin adenine dinucleotide domains evolved from different flavoproteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/1707593

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1707593

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural relationship between glutathione reductase and lipoamide dehydrogenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1707593

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical properties of cytochrome b5-dependent microsomal fatty acid elongation and identification of products

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neutrophil dysfunction, chronic granulomatous disease, and non-spherocytic haemolytic anaemia caused by complete deficiency of glucose-6-phosphate dehydrogenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1707593

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for the participation of cytochrome b 5 in hepatic microsomal mixed-function oxidation reactions

1 reference

https://pubmed.ncbi.nlm.nih.gov/1707593

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A requirement for cytochrome b 5 in microsomal stearyl coenzyme A desaturation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1707593

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pyroglutamic aciduria (5-oxoprolinuria), an inborn error in glutathione metabolism

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The enzymic defect of hereditary methemoglobinemia: diaphorase

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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