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Article

Impaired Vitamin D Signaling in T Cells From a Family With Hereditary Vitamin D Resistant Rickets.

Frontiers in immunology - 1 Jan 2021

Al-Jaberi Fatima A H, Kongsbak-Wismann Martin, Aguayo-Orozco Alejandro, Krogh Nicolai, Buus Terkild B, Lopez Daniel V, Rode Anna K O, Gravesen Eva, Olgaard Klaus, Brunak Søren, Woetmann Anders, Ødum Niels, Bonefeld Charlotte M, Geisler Carsten

Abstract excerpt

The active form of vitamin D, 1,25-dihydroxyvitamin D3 (1,25(OH)2D3), mediates its immunomodulatory effects by binding to the vitamin D receptor (VDR). Here, we describe a new point mutation in the DNA-binding domain of the VDR and its consequences for 1,25(OH)2D3 signaling in T cells from heterozygous and homozygous carriers of the mutation. The mutation did not affect the overall structure or the ability of the...

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

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Identifiers

PMID: 34093587
DOI: 10.3389/fimmu.2021.684015
PMCID: PMC8170129

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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.

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