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Genetic Disorders and Defects in Vitamin D Action

Endocrinology and metabolism clinics of North America, 2010-06, Vol.39 (2), p.333-346

2010

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The role of vitamin D receptor mutations in the development of alopecia

Molecular and cellular endocrinology, 2011-12, Vol.347 (1), p.90-96

2011

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Cell-Autonomous Regulation of Brown Fat Identity Gene UCP1 by Unliganded Vitamin D Receptor

Molecular endocrinology (Baltimore, Md.), 2013-10, Vol.27 (10), p.1632-1642

2013

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Hereditary vitamin D–resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor

Journal of bone and mineral research, 2011-11, Vol.26 (11), p.2710-2718

2011

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Genetic Disorders and Defects in Vitamin D Action

Rheumatic diseases clinics of North America, 2012-02, Vol.38 (1), p.93-106

2012

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Interaction of the Vitamin D Receptor with a Vitamin D Response Element in the Müllerian-Inhibiting Substance (MIS) Promoter : Regulation of MIS Expression by Calcitriol in Prostate Cancer Cells

Endocrinology (Philadelphia), 2009-04, Vol.150 (4), p.1580-1587

2009

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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

Molecular endocrinology (Baltimore, Md.), 2002-11, Vol.16 (11), p.2538-2546

2002

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Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function

Endocrinology (Philadelphia), 2004-11, Vol.145 (11), p.5106-5114

2004

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Growth Inhibitory Concentrations of Androgens Up-Regulate Insulin-Like Growth Factor Binding Protein-3 Expression via an Androgen Response Element in LNCaP Human Prostate Cancer Cells

Endocrinology (Philadelphia), 2006-10, Vol.147 (10), p.4599-4607

2006

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Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

Molecular genetics and metabolism, 2014-01, Vol.111 (1), p.33-40

2014

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

The Journal of biological chemistry, 2007-08, Vol.282 (35), p.25231-25239

2007

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The Role of the Vitamin D Receptor and ERp57 in Photoprotection by 1α,25-Dihydroxyvitamin D3

Molecular endocrinology (Baltimore, Md.), 2012-04, Vol.26 (4), p.574-582

2012

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Inactivation of the Human Vitamin D Receptor by Caspase-3

Endocrinology (Philadelphia), 2009-02, Vol.150 (2), p.679-686

2009

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Identification of a Functional Vitamin D Response Element in the Human Insulin-Like Growth Factor Binding Protein-3 Promoter

Molecular endocrinology (Baltimore, Md.), 2004-05, Vol.18 (5), p.1109-1119

2004

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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

Molecular genetics and metabolism, 2010, Vol.99 (1), p.72-79

2010

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Glucocorticoids can promote androgen-independent growth of prostate cancer cells through a mutated androgen receptor

Nature medicine, 2000-06, Vol.6 (6), p.703-706

2000

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Modulation of Vitamin D Receptor Activity by the Corepressor Hairless: Differential Effects of Hairless Isoforms

Endocrinology (Philadelphia), 2009-11, Vol.150 (11), p.4950-4957

2009

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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

Bone (New York, N.Y.), 2009-10, Vol.45 (4), p.743-746

2009

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Compound Heterozygous Mutations in the Vitamin D Receptor in a Patient With Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets With Alopecia

Journal of bone and mineral research, 2009-04, Vol.24 (4), p.643-651

2009

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The role of insulin‐like growth factor binding protein‐3 in the growth inhibitory actions of androgens in LNCaP human prostate cancer cells

International journal of cancer, 2008-02, Vol.122 (3), p.558-566

2008

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The Vitamin D Receptor Gene Start Codon Polymorphism: A Functional Analysis of FokI Variants

Journal of bone and mineral research, 1998-11, Vol.13 (11), p.1691-1699

1998

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

Archives of biochemistry and biophysics, 2007-04, Vol.460 (2), p.285-292

2007

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Report of two unrelated patients with hereditary vitamin D resistant rickets due to the same novel mutation in the vitamin D receptor

Journal of Pediatric Endocrinology and Metabolism, 2011-10, Vol.24 (9-10), p.793-799

2011

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Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

Journal of Pediatric Endocrinology and Metabolism, 2010-08, Vol.23 (8), p.843-850

2010

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Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets

BoneKEy reports, 2014-03, Vol.3, p.510-510

2014

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Genetic Disorders and Defects in Vitamin D Action

The role of vitamin D receptor mutations in the development of alopecia

Cell-Autonomous Regulation of Brown Fat Identity Gene UCP1 by Unliganded Vitamin D Receptor

Hereditary vitamin D–resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor

Genetic Disorders and Defects in Vitamin D Action

Interaction of the Vitamin D Receptor with a Vitamin D Response Element in the Müllerian-Inhibiting Substance (MIS) Promoter : Regulation of MIS Expression by Calcitriol in Prostate Cancer Cells

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

Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function

Growth Inhibitory Concentrations of Androgens Up-Regulate Insulin-Like Growth Factor Binding Protein-3 Expression via an Androgen Response Element in LNCaP Human Prostate Cancer Cells

Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

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

The Role of the Vitamin D Receptor and ERp57 in Photoprotection by 1α,25-Dihydroxyvitamin D3

Inactivation of the Human Vitamin D Receptor by Caspase-3

Identification of a Functional Vitamin D Response Element in the Human Insulin-Like Growth Factor Binding Protein-3 Promoter

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

Glucocorticoids can promote androgen-independent growth of prostate cancer cells through a mutated androgen receptor

Modulation of Vitamin D Receptor Activity by the Corepressor Hairless: Differential Effects of Hairless Isoforms

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

Compound Heterozygous Mutations in the Vitamin D Receptor in a Patient With Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets With Alopecia

The role of insulin‐like growth factor binding protein‐3 in the growth inhibitory actions of androgens in LNCaP human prostate cancer cells

The Vitamin D Receptor Gene Start Codon Polymorphism: A Functional Analysis of FokI Variants

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

Report of two unrelated patients with hereditary vitamin D resistant rickets due to the same novel mutation in the vitamin D receptor

Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets

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