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

The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families.

The Journal of clinical investigation - 1 Dec 1990

Malloy P J, Hochberg Z, Tiosano D, Pike J W, Hughes M R, Feldman D

Abstract excerpt

Hereditary 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] resistant rickets (HVDRR) is an autosomal recessive disease caused by target organ resistance to the action of 1,25(OH)2D3, the active form of the hormone. The defect in target cells is heterogenous and commonly appears to be a mutation in the gene encoding the vitamin D receptor (VDR). We have studied cultured skin fibroblasts and Epstein-Barr virus transformed...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Northern
Share to Blotting, Western

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Consanguinity

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Restriction Mapping

Share to RNA, Messenger

Source

Open in PubMed Open full text

Identifiers

PMID: 2174914
DOI: 10.1172/JCI114944
PMCID: PMC329846

Genes

VDR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families.PMID 2174914Read ↗

A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets.Semantic proximity Read ↗

Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain.Semantic proximity Read ↗

Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor.Semantic proximity Read ↗

Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.Semantic proximity Read ↗

Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets.Semantic proximity Read ↗

Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor.Semantic proximity Read ↗

Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy.Semantic proximity Read ↗

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation.Semantic proximity Read ↗

Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.Semantic proximity Read ↗

Genetic defects of the 1,25-dihydroxyvitamin D3 receptor.Semantic proximity Read ↗

Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function.Semantic proximity Read ↗

Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene.Semantic proximity Read ↗

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