Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase (Q24562083)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15128933%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase (English)

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28 December 2019

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2

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28 December 2019

David Mangelsdorf

4

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28 December 2019

David W. Russell

5

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28 December 2019

author name string

Jeffrey B Cheng

1

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28 December 2019

Norman H Bell

3

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28 December 2019

language of work or name

English

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publication date

5 May 2004

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Proceedings of the National Academy of Sciences of the United States of America

28 December 2019

published in

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28 December 2019

volume

101

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28 December 2019

issue

20

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28 December 2019

page(s)

7711-7715

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Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin

28 December 2019

cites work

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Transfected human liver cytochrome P-450 hydroxylates vitamin D analogs at different side-chain positions

24 March 2017

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Evidence for alteration of the vitamin D-endocrine system in blacks

24 March 2017

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The enzymes, regulation, and genetics of bile acid synthesis

24 March 2017

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An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3

24 March 2017

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25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis

24 March 2017

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Hydroxylations in biosynthesis of bile acids. Isolation of a cytochrome P-450 from rabbit liver mitochondria catalyzing 26-hydroxylation of C27-steroids

24 March 2017

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Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme

24 March 2017

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Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis

24 March 2017

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De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase

24 March 2017

1 reference

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Hypovitaminosis D prevalence and determinants among African American and white women of reproductive age: third National Health and Nutrition Examination Survey, 1988-1994.

24 March 2017

1 reference

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The molecular basis of vitamin D-dependent rickets type I.

27 September 2017

1 reference

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Case-control study of factors associated with nutritional rickets in Nigerian children

27 September 2017

1 reference

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Current understanding of the molecular actions of vitamin D.

27 September 2017

1 reference

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The Apo(a) gene is the major determinant of variation in plasma Lp(a) levels in African Americans

27 September 2017

1 reference

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Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positive resistance to 1,25-dihydroxyvitamin D3

27 September 2017

1 reference

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Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419671

An Unique Form of Osteomalacia Associated with End Organ Refractoriness to 1,25-Dihydroxyvitamin D and Apparent Defective Synthesis of 25-Hydroxyvitamin D*

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419671

Characteristics of the rat liver microsomal enzyme system converting cholecalciferol into 25-hydroxycholecalciferol. Evidence for the participation of cytochrome p-450

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419671

Assay and properties of a mitochondrial 25-hydroxylase active on vitamine D3

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419671

Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419671

A possible genetic defect in 25-hydroxylation as a cause of rickets

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419671

Subcellular location of rat liver calciferol-25-hydroxylase

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419671

25-Hydroxylase activity in subcellular fractions from human liver. Evidence for different rates of mitochondrial hydroxylation of vitamin D2 and D3.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419671

25-Hydroxylation of vitamin D3 by a cytochrome P-450 from rabbit liver mitochondria

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419671

25‐hydroxylation of 1α‐hydroxyvitamin D3 in vivo and in perfused rat liver

30 May 2018

1 reference

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CYP3A4 is a human microsomal vitamin D 25-hydroxylase

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0402490101

Disruption of the sterol 27-hydroxylase gene in mice results in hepatomegaly and hypertriglyceridemia. Reversal by cholic acid feeding.

21 January 2018

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Genome scan among Nigerians linking blood pressure to chromosomes 2, 3, and 19.

21 January 2018

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Porcine microsomal vitamin D(3) 25-hydroxylase (CYP2D25). Catalytic properties, tissue distribution, and comparison with human CYP2D6.

21 January 2018

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Lack of mutations in CYP2D6 and CYP27 in patients with apparent deficiency of vitamin D 25-hydroxylase

21 January 2018

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Vitamin D 1alpha-hydroxylase knockout mice as a hereditary rickets animal model

21 January 2018

1 reference

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Expression of 25-hydroxyvitamin D3-1alpha-hydroxylase in the human kidney.

28 November 2018

1 reference

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Sunlight, season, skin pigmentation, vitamin D, and 25-hydroxyvitamin D: integral components of the vitamin D endocrine system

28 November 2018

1 reference

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Properties of a reconstituted vitamin D3 25-hydroxylase from rat liver mitochondria

28 November 2018

1 reference

12 December 2020

25-hydroxylation of C27-steroids and vitamin D3 by a constitutive cytochrome P-450 from rat liver microsomes

1 reference

12 December 2020

Dietary phosphorus transcriptionally regulates 25-hydroxyvitamin D-1alpha-hydroxylase gene expression in the proximal renal tubule

1 reference

12 December 2020

Adolescent rickets in Saudi Arabia: a rich and sunny country

1 reference

12 December 2020

Unique form of rickets with low serum 25-hydroxyvitamin D in two normally nourished children

1 reference

12 December 2020

Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner

1 reference

12 December 2020

A new defect in vitamin D metabolism

1 reference

12 December 2020

Nutritional rickets in African American breast-fed infants

1 reference

12 December 2020

The many faces of rickets

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0402490101

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1073/PNAS.0402490101

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15128933%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

ADS bibcode

2004PNAS..101.7711C

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15128933%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

PubMed publication ID

15128933

2 references