(Q44240185)

English

A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets

scientific article published in December 2002

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Europe PubMed Central

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1 December 2017

A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets (English)

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Europe PubMed Central

PubMed publication ID

1 December 2017

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Roger Bouillon

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1 December 2017

author name string

Peter J Malloy

1

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1 December 2017

Wenjing Zhu

2

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1 December 2017

David Feldman

4

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1 December 2017

publication date

1 December 2002

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1 December 2017

Molecular Genetics and Metabolism

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1 December 2017

77

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1 December 2017

4

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1 December 2017

314-318

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1 December 2017

The nuclear receptor superfamily: the second decade

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Increasing the complexity of coactivation in nuclear receptor signaling

1 reference

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The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets

1 reference

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An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families

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Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3

1 reference

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Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds

1 reference

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Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping.

1 reference

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A Novel Nonsense Mutation in the First Zinc Finger of the Vitamin D Receptor Causing Hereditary 1,25-Dihydroxyvitamin D3-Resistant Rickets

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Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor.

1 reference

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Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets

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A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxyvitamin D3

1 reference

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A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D- resistant rickets

1 reference

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Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain

1 reference

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Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures

1 reference

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A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets

1 reference

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Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness

1 reference

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A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets

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Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene

1 reference

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An hydroxylapatite batch assay for the quantitation of 1α,25-dihydroxyvitamin D3-receptor complexes

1 reference

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

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The vitamin D receptor gene start codon polymorphism: a functional analysis of FokI variants

1 reference

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Identifiers

10.1016/S1096-7192(02)00173-7

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 December 2017

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