Genetic defects of the 1,25-dihydroxyvitamin D3 receptor (Q36419818)

14 August 2017

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title

Genetic defects of the 1,25-dihydroxyvitamin D3 receptor (English)

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14 August 2017

3

O'Malley BW

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14 August 2017

Hughes MR

1

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14 August 2017

Malloy PJ

series ordinal

2

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14 August 2017

Pike JW

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4

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14 August 2017

Feldman D

series ordinal

5

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14 August 2017

1 January 1991

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Journal of Receptors and Signal Transduction

14 August 2017

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14 August 2017

11

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14 August 2017

699-716

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14 August 2017

1-4

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Molecular cloning of complementary DNA encoding the avian receptor for vitamin D.

14 August 2017

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Cloning and expression of full-length cDNA encoding human vitamin D receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

The steroid and thyroid hormone receptor superfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Sequence elements in the human osteocalcin gene confer basal activation and inducible response to hormonal vitamin D3.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Analysis of the relation between alopecia and resistance to 1,25-dihydroxyvitamin D.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Characterization of a receptor-like protein for 1,25-dihydroxyvitamin D3 in rat skin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Vitamin D resistant rickets with alopecia: cultured skin fibroblasts exhibit defective cytoplasmic receptors and unresponsiveness to 1,25(OH)2D3

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positive resistance to 1,25-dihydroxyvitamin D3

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

1,25-Dihydroxyvitamin D Resistance, Rickets, and Alopecia: Analysis of Receptors and Bioresponse in Cultured Fibroblasts from Patients and Parents*

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

1,25-Dihydroxyvitamin D resistance, rickets, and alopecia.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Receptor-positive hereditary resistance to 1,25-dihydroxyvitamin D: chromatography of hormone-receptor complexes on deoxyribonucleic acid-cellulose shows two classes of mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

An Unique Form of Osteomalacia Associated with End Organ Refractoriness to 1,25-Dihydroxyvitamin D and Apparent Defective Synthesis of 25-Hydroxyvitamin D*

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Severely deficient binding of 1,25-dihydroxyvitamin D to its receptors in a patient responsive to high doses of this hormone.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Resistance to 1,25-dihydroxyvitamin D. Association with heterogeneous defects in cultured skin fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Primary structure and expression of a functional human glucocorticoid receptor cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

Molecular basis and population genetics of phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F10799899109066437

10.3109/10799899109066437

21 January 2018

Identifiers

DOI

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14 August 2017

1 reference