A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.

A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Research Abstract Details 

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A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Abstract Text:

Peter J Malloy,Jining Wang,Lihong Peng,Sunil Nayak,Jeanne M Sisk,Catherine C Thompson,David Feldman,

Hereditary vitamin D resistant rickets (HVDRR) is caused by mutations in the vitamin D receptor (VDR). Here we describe a patient with HVDRR who also exhibited some hypotrichosis of the scalp but otherwise had normal hair and skin. A 102 bp insertion/duplication was found in the VDR gene that introduced a premature stop (Y401X). The patient's fibroblasts expressed the truncated VDR, but were resistant to 1,25(OH)2D3. The truncated VDR weakly bound [3H]-1,25(OH)2D3 but was able to heterodimerize with RXR, bind to DNA and interact with the corepressor hairless (HR). However, the truncated VDR failed to bind coactivators and was transactivation defective. Since the patient did not have alopecia or papular lesions of the skin generally found in patients with premature stop mutations this suggests that this distally truncated VDR can still regulate the hair cycle and epidermal differentiation possibly through its interactions with RXR and HR to suppress gene transactivation.

A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Publishing Authors By Initials

PJ Malloy,J Wang,L Peng,S Nayak,JM Sisk,CC Thompson,D Feldman,

For similar chemical actions and uses: pharmacologic actions: physiological effects of drugs: growth substances: micronutrients: vitamins research abstracts see: chemical actions and uses: pharmacologic actions: physiological effects of drugs: growth substances: micronutrients: vitamins research

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A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: Archives of biochemistry and biophysics

VOLUME: 460

Page Numbers: 285-92

Journal Abbreviation:

ISSN: 0003-9861

DAY: 16

MONTH: 10

YEAR: 2006

A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Information

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LANGUAGE: eng

NlmUniqueID: 372430

A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Keywords Mesh Terms:

KEYWORDS: Vitamins

MESH TERMS: pharmacology

Chemical & Substance for Abstract: A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Information

Substance Name: Calcitriol

Registry Number: 32222-06-3

Grant and Affiliation Information for A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.

AFFILIATION: Division of Endocrinology, Gerontology and Metabolism, Department of Medicine, Stanford University School of Medicine, Stanford University Medical Center, Stanford, CA 94305, USA. malloy@cmgm.stanford.edu

Country: United States

AGENCY: United States NIDDK

GRANT: R01 DK042482-14A1

ACRONYM: DK

MEDLINETA: Arch Biochem Biophys

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