Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Targeted Inactivation of the 25-Hydroxyvitamin D3-1α-Hydroxylase Gene (CYP27B1) Creates an Animal Model of Pseudovitamin D-Deficiency Rickets*

1 Jul 2001

Abstract excerpt

Pseudovitamin D-deficiency rickets is caused by mutations in the cytochrome P450 enzyme, 25-hydroxyvitamin D(3)-1alpha-hydroxylase (1alpha-OHase). Patients with the disease exhibit growth retardation, rickets, and osteomalacia. Serum biochemistry is characterized by hypocalcemia, secondary hyperparathyroidism, and undetectable levels of 1alpha,25-dihydroxyvitamin D(3). We have inactivated the 1alpha-OHase gene in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone health and osteoporosis research
Share to Effects and risks of endocrine disrupting chemicals
Share to Vitamin D Research Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 11416036
DOI: 10.1210/endo.142.7.8281

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Targeted Inactivation of the 25-Hydroxyvitamin D3-1α-Hydroxylase Gene (CYP27B1) Creates an Animal Model of Pseudovitamin D-Deficiency Rickets*PMID 11416036Read ↗

Rescue of the pseudo-vitamin D deficiency rickets phenotype of CYP27B1-deficient mice by treatment with 1,25-dihydroxyvitamin D3: biochemical, histomorphometric, and biomechanical analyses.Semantic proximity Read ↗

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

25-Hydroxyvitamin D 1α-Hydroxylase: Structure of the Mouse Gene, Chromosomal Assignment, and Developmental ExpressionSemantic proximity Read ↗

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

Targeted inactivation of vitamin D hydroxylases in mice.Semantic proximity Read ↗

Rescue of the phenotype of CYP27B1 (1alpha-hydroxylase)-deficient mice.Semantic proximity Read ↗

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

Regulation of gene expression by dietary Ca2+ in kidneys of 25-hydroxyvitamin D3-1 alpha-hydroxylase knockout mice.Semantic proximity Read ↗

Partial rescue of the phenotype in 1α-hydroxylase gene knockout mice by vitamin D3 injection.Semantic proximity Read ↗

Vitamin D and Human Health: Lessons from Vitamin D Receptor Null MiceSemantic proximity Read ↗

Genetic disorders of vitamin D biosynthesis.Semantic proximity Read ↗

Nongenomic effects of 1α,25-dihydroxyvitamin D3 on cartilage formation deduced from comparisons between Cyp27b1 and Vdr knockout mice.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.