(Q37137466)

English

Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia

scientific article published on April 2009

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia (English)

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

0 references

0 references

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Yulin Zhou

1

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Jining Wang

2

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Peter J Malloy

3

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Zdenek Dolezel

4

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

David Feldman

5

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

publication date

1 April 2009

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Journal of Bone and Mineral Research

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

24

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

643-651

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Enhancers located within two introns of the vitamin D receptor gene mediate transcriptional autoregulation by 1,25-dihydroxyvitamin D3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659515

14 September 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=2659515

14 September 2017

Novel mechanism of nuclear receptor corepressor interaction dictated by activation function 2 helix determinants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659515

14 September 2017

RXR-alpha ablation in skin keratinocytes results in alopecia and epidermal alterations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659515

14 September 2017

The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659515

14 September 2017

Lysine 246 of the vitamin D receptor is crucial for ligand-dependent interaction with coactivators and transcriptional activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659515

14 September 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=2659515

14 September 2017

The product of a thyroid hormone-responsive gene interacts with thyroid hormone receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659515

14 September 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=2659515

14 September 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=2659515

14 September 2017

A highly conserved region in the hormone-binding domain of the human vitamin D receptor contains residues vital for heterodimerization with retinoid X receptor and for transcriptional activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659515

29 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=2659515

27 June 2018

Characterization of the activation function-2 domain of the human 1,25-dihydroxyvitamin D3 receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659515

27 June 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=2659515

3 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=2659515

3 September 2018

Ligand-mediated conformational changes of the VDR are required for gene transactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659515

3 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=2659515

3 September 2018

Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659515

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659515

3 September 2018

Coactivator-vitamin D receptor interactions mediate inhibition of the atrial natriuretic peptide promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659515

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659515

3 September 2018

Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner

1 reference

https://pubmed.ncbi.nlm.nih.gov/19049339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin D3-resistant rickets

1 reference

https://pubmed.ncbi.nlm.nih.gov/19049339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: a comparative clinical, histologic, and immunohistochemical study

1 reference

https://pubmed.ncbi.nlm.nih.gov/19049339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3

1 reference

https://pubmed.ncbi.nlm.nih.gov/19049339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1359/JBMR.081216

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

ResearchGate publication ID

0 references

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