Tryptophan missense mutation in the ligand-binding domain of the vitamin D receptor causes severe resistance to 1,25-dihydroxyvitamin D.
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The rapid effects of 1,25-dihydroxyvitamin D3 require the vitamin D receptor and influence 24-hydroxylase activity: studies in human skin fibroblasts bearing vitamin D receptor mutationsSynchrotron ultraviolet microspectroscopy on rat cortical bone: involvement of tyrosine and tryptophan in the osteocyte and its environmentResistance to 1,25D-induced differentiation in human acute myeloid leukemia HL60-40AF cells is associated with reduced transcriptional activity and nuclear localization of the vitamin D receptor.The role of vitamin D receptor mutations in the development of alopeciaVitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.Stable expression of human VDR in murine VDR-null cells recapitulates vitamin D mediated anti-cancer signaling.Small-molecule hormones: molecular mechanisms of actionA unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia.Vitamin D receptor polymorphisms in hypocalcemic vitamin D-resistant rickets carriers.
P2860
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P2860
Tryptophan missense mutation in the ligand-binding domain of the vitamin D receptor causes severe resistance to 1,25-dihydroxyvitamin D.
description
2002 nî lūn-bûn
@nan
2002 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Tryptophan missense mutation i ...... ce to 1,25-dihydroxyvitamin D.
@ast
Tryptophan missense mutation i ...... ce to 1,25-dihydroxyvitamin D.
@en
type
label
Tryptophan missense mutation i ...... ce to 1,25-dihydroxyvitamin D.
@ast
Tryptophan missense mutation i ...... ce to 1,25-dihydroxyvitamin D.
@en
prefLabel
Tryptophan missense mutation i ...... ce to 1,25-dihydroxyvitamin D.
@ast
Tryptophan missense mutation i ...... ce to 1,25-dihydroxyvitamin D.
@en
P2093
P1476
Tryptophan missense mutation i ...... ce to 1,25-dihydroxyvitamin D.
@en
P2093
F Brouillard
H Guillozo
J M Garnier
M Garabedian
M L Kottler
M Rizk-Rabin
T M Nguyen
P304
P356
10.1359/JBMR.2002.17.9.1728
P577
2002-09-01T00:00:00Z