(Q37480264)

English

Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor

scientific article published on January 2010

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor (English)

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

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0 references

author name string

Peter J Malloy

1

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Jining Wang

2

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Tarak Srivastava

3

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

David Feldman

4

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 January 2010

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

99

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

72-79

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

23 August 2017

Unexpected actions of vitamin D: new perspectives on the regulation of innate and adaptive immunity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

23 August 2017

Vitamin D in defense of the human immune response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

23 August 2017

Effects of calcium and of the Vitamin D system on skeletal and calcium homeostasis: lessons from genetic models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

23 August 2017

Physical and functional interaction between the vitamin D receptor and hairless corepressor, two proteins required for hair cycling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

23 August 2017

Hereditary 1,25-dihydroxyvitamin D resistant rickets: molecular basis and implications for the role of 1,25(OH) 2D3 in normal physiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

23 August 2017

A unique insertion/substitution in helix H1 of the vitamin D receptor ligand binding domain in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

26 June 2018

The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

26 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

26 June 2018

Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

2 September 2018

Ligand-independent actions of the vitamin D receptor maintain hair follicle homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

2 September 2018

Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

2 September 2018

Inactivation of the 25-hydroxyvitamin D 1alpha-hydroxylase and vitamin D receptor demonstrates independent and interdependent effects of calcium and vitamin D on skeletal and mineral homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

2 September 2018

A novel mutation in helix 12 of the vitamin D receptor impairs coactivator interaction and causes hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2794978

2 September 2018

In vivo relevance for photoprotection by the vitamin D rapid response pathway

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.004

7 January 2021

Long-term intracaval calcium infusion therapy in end-organ resistance to 1,25-dihydroxyvitamin D

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.004

7 January 2021

Identifiers

10.1016/J.YMGME.2009.09.004

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

ResearchGate publication ID

0 references

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