Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.

A Rapid and Sensitive Method for the Quantitation of Microgram Quantities of Protein Utilizing the Principle of Protein-Dye Binding

1976 • 225,752 citations

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

1976 • 200,127 citations

The Steroid and Thyroid Hormone Receptor Superfamily

1988 • 7,590 citations

The RXR heterodimers and orphan receptors

1995 • 3,168 citations

Crystal structure of the ligand-binding domain of the human nuclear receptor RXR-α

1995 • 1,179 citations

Crystal structure of the RAR-γ ligand-binding domain bound to all-trans retinoic acid

1995 • 1,085 citations

Cloning and expression of full-length cDNA encoding human vitamin D receptor.

1988 • 961 citations

A structural role for hormone in the thyroid hormone receptor

1995 • 938 citations

The Syndromes of Resistance to Thyroid Hormone*

1993 • 804 citations

Point mutations in the Human Vitamin D Receptor Gene Associated with Hypocalcemic Rickets

1988 • 490 citations

Vitamin D and prostate cancer: 1,25 dihydroxyvitamin D3 receptors and actions in human prostate cancer cell lines.

1993 • 475 citations

MINIREVIEW: Interactions Among a Subfamily of Nuclear Hormone Receptors: The Regulatory Zipper Model

1990 • 428 citations

Vitamin-D-Dependent Rickets Type II

1978 • 340 citations

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

1986 • 263 citations

The syndromes of resistance to thyroid hormone

1993 • 233 citations

Cloning and expression of cDNA encoding 25‐hydroxyvitamin D₃ 24‐hydroxylase

1991 • 232 citations

A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection.

1991 • 197 citations

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*

1983 • 196 citations

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

1990 • 192 citations

Rickets with alopecia: An inborn error of vitaminD metabolism

1979 • 174 citations

VITAMIN D RESISTANT RICKETS WITH ALOPECIA: CULTURED SKIN FIBROBLASTS EXHIBIT DEFECTIVE CYTOPLASMIC RECEPTORS AND UNRESPONSIVENESS TO 1,25(OH)2D3

1982 • 169 citations

Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.

1993 • 152 citations

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

1989 • 142 citations

Vitamin D and prostate cancer: 1,25 dihydroxyvitamin D3 receptors and actions in human prostate cancer cell lines

1993 • 125 citations

Cloning and characterization of the human osteopontin gene and its promoter

1994 • 119 citations

1,25-dihydroxyvitamin D resistance, rickets, and alopecia

1984 • 111 citations

Vitamin D Resistance and Alopecia: A Kindred with Normal 1,25-Dihydroxyvitamin D Binding, but Decreased Receptor Affinity for Deoxyribonucleic Acid*

1985 • 108 citations

A Unique Point Mutation in the Human Vitamin D Receptor Chromosomal Gene Confers Hereditary Resistance to 1,25-Dihydroxyvitamin D₃

1990 • 104 citations

Tissue resistance to 1,25‐dihydroxyvitamin D without a mutation of the vitamin D receptor gene

1993 • 102 citations

ANALYSIS OF THE RELATION BETWEEN ALOPECIA AND RESISTANCE TO 1,25‐DIHYDROXYVITAMIN D

1986 • 100 citations

Abnormal Binding of Vitamin D Receptors to Deoxyribonucleic Acid in a Kindred With Vitamin D-Dependent Rickets, Type II*

1989 • 88 citations

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

1987 • 86 citations

VITAMIN D RESISTANT RICKETS WITH ALOPECIA: A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN D

1981 • 86 citations

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

1989 • 84 citations

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

1984 • 84 citations

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

1985 • 82 citations

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.

1983 • 76 citations

Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds

1993 • 74 citations

Absent Intestinal Response to Calciferols in Hereditary Resistance to 1,25-Dihydroxyvitamin D: Documentation and Effective Therapy With High Dose Intravenous Calcium Infusions*

1988 • 68 citations

Cloning and expression of the gene from Candida albicans that encodes a high-affinity corticosteroid-binding protein.

1993 • 62 citations

A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.

1996 • 62 citations

A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

1993 • 61 citations

Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain.

1994 • 60 citations

1α-Hydroxyvitamin D3 Treatment of Three Patients With 1,25-Dihydroxyvitamin D-Receptor-Defect Rickets and Alopecia

1987 • 58 citations

Genetic Defects of the 1,25-Dihydroxyvitamin D₃Receptor

1991 • 58 citations

Calcitriol-Resistant Rickets With Alopecia

1985 • 56 citations

The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII)

1993 • 55 citations

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

1990 • 50 citations

Two siblings with vitamin-D-dependent rickets type II: No recurrence of rickets for 14 years after cessation of therapy

1989 • 47 citations

Receptor-Positive Hereditary Resistance to 1,25-Dihydroxyvitamin D: Chromatography of Hormone-Receptor Complexes on Deoxyribonucleic Acid-Cellulose Shows Two Classes of Mutation*

1986 • 44 citations

Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents

1996 • 35 citations

Lymphocyte cell lines from vitamin D-dependent rickets type II show functional defects in the 1α,25-dihydroxyvitamin D3 receptor

1990 • 28 citations

A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D- resistant rickets

1993 • 24 citations

Vitamin D-dependent rickets type II: report of three cases.

1988 • 10 citations

Combined use of intravenous and oral calcium for treatment of vitamin D dependent rickets type II (VDDRII)

1992 • 4 citations