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rdf:type |
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lifeskim:mentions |
umls-concept:C0006674,
umls-concept:C0008059,
umls-concept:C0011854,
umls-concept:C0019425,
umls-concept:C0026882,
umls-concept:C0086860,
umls-concept:C0108082,
umls-concept:C0205198,
umls-concept:C0871261,
umls-concept:C1704632,
umls-concept:C1706817,
umls-concept:C2363065,
umls-concept:C2911692
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|
pubmed:issue |
6
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pubmed:dateCreated |
2006-6-6
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pubmed:abstractText |
We report here the first association between vitamin D-resistant rickets, alopecia, and type 1 diabetes in a child with compound heterozygous mutations in the VDR gene. Transfection studies suggest dissociated effects of VDR gene mutations on the regulation of genes involved in vitamin D metabolism and dendritic cell maturation.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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|
pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0884-0431
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pubmed:author |
pubmed-author:BougnèresPierreP,
pubmed-author:DongXiangyangX,
pubmed-author:GarabédianMichèleM,
pubmed-author:GriffinMatthew DMD,
pubmed-author:GuillozoHuguetteH,
pubmed-author:JehanFrédéricF,
pubmed-author:KumarRajivR,
pubmed-author:NguyenMinhM,
pubmed-author:PascussiJean MarcJM,
pubmed-author:Rizk-RabinMartheM,
pubmed-author:SindingChristianeC,
pubmed-author:d'AlesioArnoldA
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|
pubmed:issnType |
Print
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pubmed:volume |
21
|
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
886-94
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:16753019-Animals,
pubmed-meshheading:16753019-Calcitriol,
pubmed-meshheading:16753019-Cells, Cultured,
pubmed-meshheading:16753019-Child, Preschool,
pubmed-meshheading:16753019-Diabetes Mellitus, Type 1,
pubmed-meshheading:16753019-European Continental Ancestry Group,
pubmed-meshheading:16753019-Fibroblasts,
pubmed-meshheading:16753019-France,
pubmed-meshheading:16753019-Gene Amplification,
pubmed-meshheading:16753019-Genome,
pubmed-meshheading:16753019-Humans,
pubmed-meshheading:16753019-Hypophosphatemia, Familial,
pubmed-meshheading:16753019-Male,
pubmed-meshheading:16753019-Mutation,
pubmed-meshheading:16753019-Promoter Regions, Genetic,
pubmed-meshheading:16753019-Receptors, Calcitriol,
pubmed-meshheading:16753019-Sequence Analysis, DNA,
pubmed-meshheading:16753019-Steroid Hydroxylases,
pubmed-meshheading:16753019-Transcription Factor RelB
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pubmed:year |
2006
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pubmed:articleTitle |
Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3.
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pubmed:affiliation |
INSERM Unité 561, Hôpital St Vincent de Paul, Paris, France. thai-nguyen@paris5.inserm.fr
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pubmed:publicationType |
Journal Article,
Case Reports
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