Vitamin D resistance - 08/09/11

Doi : 10.1016/S0002-9343(98)00419-7

Peter J Malloy, PhD ^a, David Feldman, MD ^a,⁎
^a Department of Medicine, Stanford University School of Medicine, Stanford, California 94305, USA

^*Requests for reprints should be addressed to David Feldman, MD, Division of Endocrinology, Room S-005, Stanford University School of Medicine, Stanford, California 94305-5103

In collaboration with The American Physiological Society, Thomas E. Andreoli, MD, Editor

Esquema

Molecular and cellular mechanism of 1,25-dihydroxyvitamin D action

Synthesis of 1,25-dihydroxyvitamin D

Physiologic effects of 1,25-dihydroxyvitamin D

1,25-dihydroxyvitamin D acts via the vitamin D receptor to modulate gene expression

Cloning and structural organization of the vitamin D receptor gene

Functional domains of the vitamin D receptor

The DNA-binding domain (DBD)

The ligand-binding domain

Hereditary vitamin D–resistant rickets

History and nomenclature

Cellular evidence of 1,25-dihydroxyvitamin D resistance

Initial studies

DNA-binding defects

Molecular analysis of HVDRR

First molecular description of a genetic defect in the steroid-thyroid-retinoid receptor superfamily

Missense mutations in the DNA-binding domain

Mutations causing premature termination of the VDR

Missense mutations in the ligand-binding domain

Splice site mutations

Gene deletion

Description of HVDRR without mutations in the VDR

Clinical ramifications and conclusions

Exportación

Vol 106 - N° 3

P. 355-370 - mars 1999 Regresar al número

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Vitamin D resistance - 08/09/11

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