(Q33804590)

29 July 2017

1 reference

title

Genetic mutation in the human 25-hydroxyvitamin D3 1alpha-hydroxylase gene causes vitamin D-dependent rickets type I. (English)

1 reference

29 July 2017

0 references

S Kato

1

1 reference

PubMed ID

10612418

29 July 2017

language of work or name

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1 October 1999

1 reference

Molecular and Cellular Endocrinology

29 July 2017

1 reference

29 July 2017

156

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29 July 2017

1-2

1 reference

29 July 2017

7-12

1 reference

Neonatal human foreskin keratinocytes produce 1,25-dihydroxyvitamin D3

29 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Vitamin D status regulates 25-hydroxyvitamin D3-1 alpha-hydroxylase and its responsiveness to parathyroid hormone in the chick

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Parathyroid hormone activation of the 25-hydroxyvitamin D3-1alpha-hydroxylase gene promoter

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Cloning of the human 1 alpha,25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Metabolism and Mechanism of Action of Vitamin D

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

The metabolism and functions of vitamin D.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Vitamin D dependency: Replacement therapy with calcitriol

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Kinetics and regulation of 25-hydroxycholecalciferol 1 alpha-hydroxylase from cells isolated from human term decidua

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Regulation of 25-hydroxycholecalciferol-1-hydroxylase activity in kidney by parathyroid hormone

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Vitamin D metabolism: the role of kidney tissue.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

The nuclear vitamin D receptor: biological and molecular regulatory properties revealed.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Parathyroid hormone modulation of 25-hydroxyvitamin D3 metabolism by cultured chick kidney cells is mimicked and enhanced by forskolin

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Interactions between intracellular signals involved in the regulation of 25-hydroxyvitamin D3 metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Isolation and identification of 24,25-dihydroxycholecalciferol, a metabolite of vitamin D made in the kidney

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Mutations in the 1,25-dihydroxyvitamin D3 receptor identifying C-terminal amino acids required for transcriptional activation that are functionally dissociated from hormone binding, heterodimeric DNA binding, and interaction with basal transcription

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

The importance of 25-hydroxyvitamin D3 1 alpha-hydroxylase gene in vitamin D-dependent rickets

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Localization of 25-hydroxyvitamin D3 1 alpha-hydroxylase and 24-hydroxylase along the rat nephron

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Retinoid X receptor:vitamin D3 receptor heterodimers promote stable preinitiation complex formation and direct 1,25-dihydroxyvitamin D3-dependent cell-free transcription

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Failure of formation of 1,25-dihydroxycholecalciferol in chronic renal insufficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

The promoter of the human 25-hydroxyvitamin D3 1 alpha-hydroxylase gene confers positive and negative responsiveness to PTH, calcitonin, and 1 alpha,25(OH)2D3.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Positive and negative regulations of the renal 25-hydroxyvitamin D3 1alpha-hydroxylase gene by parathyroid hormone, calcitonin, and 1alpha,25(OH)2D3 in intact animals

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Physiologic regulation of the serum concentration of 1,25-dihydroxyvitamin D by phosphorus in normal men.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Tumor necrosis factor-alpha induces vitamin D-1-hydroxylase activity in normal human alveolar macrophages

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

1,25-Dihydroxycholecalciferol: A Potent Stimulator of Bone Resorption in Tissue Culture

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

The role of the vitamin D endocrine system in health and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Enzymatic properties of mouse 25-hydroxyvitamin D3 1 alpha-hydroxylase expressed in Escherichia coli

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Serum 1,25-Dihydroxyvitamin D Levels in Normal Subjects and in Patients with Hereditary Rickets or Bone Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Cloning and expression of rat 25-hydroxyvitamin D3-1alpha-hydroxylase cDNA

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Selective interaction of vitamin D receptor with transcriptional coactivators by a vitamin D analog

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

In vitro synthesis of 1 alpha,25-dihydroxycholecalciferol and 24,25-dihydroxycholecalciferol by isolated calvarial cells

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Unique property of liver mitochondrial P450 to catalyze the two physiologically important reactions involved in both cholesterol catabolism and vitamin D activation

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Convergence of transforming growth factor-beta and vitamin D signaling pathways on SMAD transcriptional coactivators

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2899%2900128-8

7 January 2021

10.1016/S0303-7207(99)00128-8

Identifiers

DOI

1 reference

29 July 2017

1 reference

PubMed ID

10612418