Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families (Q34388188)

1 August 2017

title

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

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1 August 2017

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5

M Labuda

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1 August 2017

J T Wang

1

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1 August 2017

C J Lin

2

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1 August 2017

S M Burridge

3

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1 August 2017

G K Fu

4

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1 August 2017

A A Portale

6

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1 August 2017

W L Miller

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1 August 2017

language of work or name

English

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publication date

1 December 1998

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American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

63

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1 August 2017

issue

6

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1 August 2017

page(s)

1694-1702

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

1 August 2017

cites work

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

6 July 2018

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

6 July 2018

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Site-directed mutagenesis using double-stranded plasmid DNA templates

6 July 2018

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Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

6 July 2018

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

6 July 2018

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Crystal structure of hemoprotein domain of P450BM-3, a prototype for microsomal P450's

6 July 2018

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Effective amplification of long targets from cloned inserts and human genomic DNA

6 July 2018

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Crystal structure and refinement of cytochrome P450terp at 2.3 A resolution

6 July 2018

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Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency

6 July 2018

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Structure of cytochrome P450eryF involved in erythromycin biosynthesis

6 July 2018

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The 1993-94 Généthon human genetic linkage map

6 July 2018

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Localization of 25-hydroxyvitamin D3 1 alpha-hydroxylase and 24-hydroxylase along the rat nephron

6 July 2018

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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.

6 July 2018

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High-resolution crystal structure of cytochrome P450cam

6 July 2018

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A simple salting out procedure for extracting DNA from human nucleated cells

6 July 2018

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Human adrenodoxin: cloning of three cDNAs and cycloheximide enhancement in JEG-3 cells

6 July 2018

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Cloning and structure of the human adrenodoxin gene

6 July 2018

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Molecular biology of steroid hormone synthesis

6 July 2018

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Gene structure of human cytochrome P-450(SCC), cholesterol desmolase

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta

6 July 2018

1 reference

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Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues

6 July 2018

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Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta)

6 July 2018

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Improvements in protein secondary structure prediction by an enhanced neural network

6 July 2018

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

Cloning and sequence of the human adrenodoxin reductase gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis

6 July 2018

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cAMP post-transcriptionally diminishes the abundance of adrenodoxin reductase mRNA

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

Site of 1,25(OH)2 vitamin D3 synthesis in the kidney

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

Serum 1,25-Dihydroxyvitamin D Levels in Normal Subjects and in Patients with Hereditary Rickets or Bone Disease

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

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

6 July 2018

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency

27 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom).

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

Adenovirus-mediated transfection of cultured cells.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

Structure and function of cytochromes P450: a comparative analysis of three crystal structures.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377641

Unique Biosynthesis by Kidney of a Biologically Active Vitamin D Metabolite

27 October 2018

1 reference

12 December 2020

Vitamin D dependency: Replacement therapy with calcitriol

1 reference

12 December 2020

A microassay for 1,25-dihydroxyvitamin D not requiring high performance liquid chromatography: application to clinical studies

1 reference

12 December 2020

Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada)

1 reference

12 December 2020

Growth rate in children with vitamin-D-dependent rickets in relation to 1-alpha-hydroxyvitamin D3 dosage

1 reference

12 December 2020

Identifiers

DOI

10.1086/302156

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1 August 2017

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1 August 2017

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