Article

Cloning of Human 25-Hydroxyvitamin D-1 -Hydroxylase and Mutations Causing Vitamin D-Dependent Rickets Type 1

1997-12-01

Abstract excerpt

The secosteroid hormone, 1,25-dihydroxyvitamin D [1,25(OH) 2D], plays a crucial role in normal bone growth, calcium metabolism, and tissue differentiation. The key step in the biosynthesis of 1,25-(OH) 2D is its 1�-hydroxylation from 25-hydroxyvitamin D (25-OHD) in the kidney. Because its expression in the kidney is very low, we cloned and sequenced cDNA for 25-OHD-1�-hydroxylase (P450c1�) from human keratinocytes...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 263e2b01-f77b-5233-8647-85b4941b9ba8
DOI: 10.1210/me.11.13.1961

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Cloning of Human 25-Hydroxyvitamin D-1 -Hydroxylase and Mutations Causing Vitamin D-Dependent Rickets Type 1DOI 10.1210/me.11.13.1961Read

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

Human 25-hydroxyvitamin D-1alpha-hydroxylase: cloning, mutations, and gene expression.Semantic proximity Read

Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.Semantic proximity Read

Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.Semantic proximity Read

The 25-Hydroxyvitamin D 1-Alpha-Hydroxylase Gene Maps to the Pseudovitamin D-Deficiency Rickets (PDDR) Disease LocusSemantic proximity Read

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?Semantic proximity Read

Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.Semantic proximity Read

Genetic causes of rickets.Semantic proximity Read

Cytochrome P450-mediated metabolism of vitamin D.Semantic proximity Read

1alpha-Hydroxylase and the action of vitamin DSemantic proximity Read

CYP2R1 mutations causing vitamin D-deficiency rickets.Semantic proximity Read

Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.Semantic proximity Read