The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families (Q24620035)

1

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Z Hochberg

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D Tiosano

3

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J W Pike

4

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M R Hughes

5

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D Feldman

Journal of Clinical Investigation

6

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language of work or name

English

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publication date

December 1990

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published in

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volume

86

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issue

6

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page(s)

2071-9

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cites work

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Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity

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Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta

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A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds

7 April 2017

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DNA sequencing with chain-terminating inhibitors

7 April 2017

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

7 April 2017

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The steroid and thyroid hormone receptor superfamily

7 April 2017

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Purification of mouse immunoglobulin heavy-chain messenger RNAs from total myeloma tumor RNA

7 April 2017

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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

7 April 2017

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

27 September 2017

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The Vitamin D Endocrine System: Steroid Metabolism, Hormone Receptors, and Biological Response (Calcium Binding Proteins)*

27 September 2017

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Primary cortisol resistance in man. A glucocorticoid receptor-mediated disease

27 September 2017

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

27 September 2017

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

27 September 2017

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

27 September 2017

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

27 September 2017

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Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D.

27 September 2017

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Hormonal responses to 1,25-dihydroxyvitamin D3 in cultured mouse osteoblast-like cells--modulation by changes in receptor level

27 September 2017

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Defective binding and function of 1,25-dihydroxyvitamin D3 receptors in peripheral mononuclear cells of patients with end-organ resistance to 1,25-dihydroxyvitamin D.

27 September 2017

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Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

27 September 2017

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Structure and regulation of the rat 1,25-dihydroxyvitamin D3 receptor

27 September 2017

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

27 September 2017

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

27 September 2017

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Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase

27 September 2017

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Effect of 1 alpha,25-dihydroxyvitamin D3 on the morphologic and biochemical differentiation of cultured human epidermal keratinocytes grown in serum-free conditions

27 September 2017

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A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance

27 September 2017

1 reference

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Rickets with alopecia: An inborn error of vitaminD metabolism

27 September 2017

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

27 September 2017

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Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

27 September 2017

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

Regulation of 1,25-dihydroxyvitamin D3 receptors by vitamin D analogs in cultured mammalian cells

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

Does 1,25-dihydroxyvitamin D participate in the regulation of hormone release from endocrine glands?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

Aldosterone-receptor deficiency in pseudohypoaldosteronism

30 May 2018

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A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

Absent intestinal response to calciferols in hereditary resistance to 1,25-dihydroxyvitamin D: documentation and effective therapy with high dose intravenous calcium infusions.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

Mutant vitamin D receptors which confer hereditary resistance to 1,25-dihydroxyvitamin D3 in humans are transcriptionally inactive in vitro.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

Defective leukocyte fungicidal activity in end-organ resistance to 1,25-dihydroxyvitamin D.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

Myeloid progenitors from the bone marrow of patients with vitamin D resistant rickets (type II) fail to respond to 1,25(OH)2D3.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

Vitamin D resistance and alopecia: a kindred with normal 1,25-dihydroxyvitamin D binding, but decreased receptor affinity for deoxyribonucleic acid.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

Vitamin D is not directly necessary for bone growth and mineralization

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

Interaction of 1,25-Dihydroxyvitamin-D3with Keratinocytes and Fibroblasts from Skin of Normal Subjects and a Subject with Vitamin-D-Dependent Rickets, Type II: A Model for Study of the Mode of Action of 1,25-Dihydroxyvitamin D3*

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

Calcitriol-resistant rickets with alopecia.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

1,25-Dihydroxyvitamin D production and receptor binding in human keratinocytes varies with differentiation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329846

1,25-Dihydroxyvitamin D3 receptors and functions in cultured pig kidney cells (LLC PK1). Regulation of 24,25-dihydroxyvitamin D3 production

28 November 2018

1 reference

12 December 2020

Organ Distribution of the Cytoplasmic 1,25- Dihydroxycholecalciferol Receptor in Various Mouse Tissues*

1 reference

12 December 2020

Demonstration of 1,25-dihydroxyvitamin D3 receptors in human skin biopsies

1 reference

12 December 2020

Effects of the modification of transfer buffer composition and the renaturation of proteins in gels on the recognition of proteins on Western blots by monoclonal antibodies

1 reference

12 December 2020

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

1 reference

12 December 2020

Immunocytochemical detection of 1,25-dihydroxyvitamin D receptors in normal human tissues

1 reference

12 December 2020

Functional domains of the human vitamin D3 receptor regulate osteocalcin gene expression

1 reference

12 December 2020

The molecular basis of muscular dystrophy in the mdx mouse: a point mutation

1 reference

12 December 2020

Vitamin D resistant rickets with alopecia: a form of end organ resistance to 1,25 dihydroxy vitamin D

1 reference

12 December 2020