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

Genetic defects of the 1,25-dihydroxyvitamin D3 receptor.

Journal of receptor research - 1 Jan 1991

Hughes M R, Malloy P J, O'Malley B W, Pike J W, Feldman D

Abstract excerpt

Target organ resistance to steroid hormone action is known to produce clinical disorders ranging from testicular feminization in the case of androgen resistance to hypocalcemic vitamin D-resistant ricets (HVDRR) in the case of 1,25-dihydroxyvitamin D3. The etiologic basis of these disorders is thought to be genetic mutations in the gene encoding receptors for these hormones. We investigated this possibility by...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to Amino Acid Sequence
Share to Base Sequence

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

Share to Ligands

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Share to Transcription, Genetic

Source

Identifiers

PMID: 1653354
DOI: 10.3109/10799899109066437

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

Genetic defects of the 1,25-dihydroxyvitamin D3 receptor.PMID 1653354Read ↗

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

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

A Unique Point Mutation in the Human Vitamin D Receptor Chromosomal Gene Confers Hereditary Resistance to 1,25-Dihydroxyvitamin D3Semantic 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 ↗

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

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

Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures.Semantic proximity Read ↗

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

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

Hereditary 1,25-dihydroxyvitamin D resistant rickets: molecular basis and implications for the role of 1,25(OH) 2D3 in normal physiology.Semantic proximity Read ↗

A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without AlopeciaSemantic proximity Read ↗

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