(Q33802784)

29 July 2017

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title

Genetic disorders of vitamin D biosynthesis (English)

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29 July 2017

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W L Miller

1

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29 July 2017

A A Portale

series ordinal

2

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29 July 2017

publication date

1 December 1999

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Endocrinology and Metabolism Clinics of North America

29 July 2017

published in

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29 July 2017

volume

28

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29 July 2017

issue

4

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29 July 2017

page(s)

825-40, x

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Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer

29 July 2017

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7 January 2021

Neonatal human foreskin keratinocytes produce 1,25-dihydroxyvitamin D3

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7 January 2021

1,25-Dihydroxyvitamin D3 production by human keratinocytes. Kinetics and regulation

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7 January 2021

Parathyroid hormone activation of the 25-hydroxyvitamin D3-1alpha-hydroxylase gene promoter

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7 January 2021

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

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7 January 2021

Cloning of the human 1α,25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements

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7 January 2021

Isolation and expression of human 1,25-dihydroxyvitamin D3 24-hydroxylase cDNA

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7 January 2021

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

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7 January 2021

Molecular biology of mineralocorticoid metabolism

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Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.

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7 January 2021

Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1

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7 January 2021

Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha

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7 January 2021

P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5.

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7 January 2021

Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.

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7 January 2021

Metabolism of 1,25-dihydroxyvitamin D3

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7 January 2021

Molecular biology of steroid hormone synthesis

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7 January 2021

Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase

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7 January 2021

The promoter of the human 25-hydroxyvitamin D3 1 alpha-hydroxylase gene confers positive and negative responsiveness to PTH, calcitonin, and 1 alpha,25(OH)2D3.

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7 January 2021

P450 genes: structure, evolution, and regulation

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7 January 2021

Structural characterization of the gene encoding rat 25-hydroxyvitamin D3 24-hydroxylase

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7 January 2021

Cloning and expression of cDNA encoding 25-hydroxyvitamin D3 24-hydroxylase

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7 January 2021

Cloning, structure, and expression of a cDNA encoding vitamin D3 25-hydroxylase

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7 January 2021

Purification and characterization of a hepatic mitochondrial cytochrome P-450 active in aflatoxin B1 metabolism

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7 January 2021

Cloning and expression of rat 25-hydroxyvitamin D3-1alpha-hydroxylase cDNA

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7 January 2021

The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus

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7 January 2021

A cDNA encoding a rat mitochondrial cytochrome P450 catalyzing both the 26-hydroxylation of cholesterol and 25-hydroxylation of vitamin D3: gonadotropic regulation of the cognate mRNA in ovaries

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7 January 2021

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

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7 January 2021

Molecular cloning of cDNA for vitamin D3 25-hydroxylase from rat liver mitochondria

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7 January 2021

Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families

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7 January 2021

Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I1

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7 January 2021

10.1016/S0889-8529(05)70104-3

Identifiers

DOI

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29 July 2017

1 reference