Vitamin D resistance

The nuclear receptor superfamily: The second decade

1995 • 6,929 citations

Vitamin D

1979 • 3,814 citations

The RXR heterodimers and orphan receptors

1995 • 3,168 citations

The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed

1998 • 1,391 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

Target Cells for 1,25-Dihydroxyvitamin D ₃ in Intestinal Tract, Stomach, Kidney, Skin, Pituitary, and Parathyroid

1979 • 713 citations

A Vitamin D Receptor Gene Polymorphism in the Translation Initiation Codon: Effect on Protein Activity and Relation to Bone Mineral Density in Japanese Women

1997 • 640 citations

Newly Identified Actions of the Vitamin D Endocrine System*

1992 • 563 citations

25-Hydroxyvitamin D ₃ 1α-Hydroxylase and Vitamin D Synthesis

1997 • 528 citations

Molecular Cloning of Complementary DNA Encoding the Avian Receptor for Vitamin D

1987 • 516 citations

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

1988 • 490 citations

Antiproliferative effects of 1,25-dihydroxyvitamin D3 on primary cultures of human prostatic cells.

1994 • 489 citations

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

1996 • 451 citations

Sequences in the human parathyroid hormone gene that bind the 1,25-dihydroxyvitamin D3 receptor and mediate transcriptional repression in response to 1,25-dihydroxyvitamin D3.

1992 • 395 citations

Structural Organization of the Human Vitamin D Receptor Chromosomal Gene and Its Promoter

1997 • 385 citations

Inactivating Mutations in the 25-Hydroxyvitamin D₃1α-Hydroxylase Gene in Patients with Pseudovitamin D–Deficiency Rickets

1998 • 360 citations

Vitamin-D-Dependent Rickets Type II

1978 • 340 citations

The Vitamin D Receptor Start Codon Polymorphism (FokI) and Bone Mineral Density in Premenopausal American Black and White Women

1997 • 285 citations

Vitamin D3 Receptors: Structure and Function in Transcription

1991 • 271 citations

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

1986 • 263 citations

CLINICAL COUNTERPOINT: Vitamin D: New Actions, New Analogs, New Therapeutic Potential*

1992 • 223 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

Immunocytochemical Localization of the 1,25-Dihydroxyvitamin D₃Receptor in Target Cells*

1988 • 197 citations

Immunocytochemical Detection of 1,25-Dihydroxyvitamin D Receptors in Normal Human Tissues*

1988 • 196 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

DEMONSTRATION OF 1,25-DIHYDROXYVITAMIN D₃RECEPTORS IN HUMAN SKIN BIOPSIES

1980 • 194 citations

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

1990 • 192 citations

Structural determinants of DNA-binding specificity by steroid receptors.

1995 • 190 citations

Newly identified actions of the vitamin D endocrine system

1992 • 179 citations

Rickets with alopecia: An inborn error of vitaminD metabolism

1979 • 174 citations

Vitamin D is not directly necessary for bone growth and mineralization

1984 • 170 citations

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

1982 • 169 citations

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

1980 • 158 citations

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

1993 • 152 citations

Vitamin D-resistant rickets

1964 • 150 citations

A Cellular Defect in Hereditary Vitamin-D-Dependent Rickets Type II: Defective Nuclear Uptake of 1,25-Dihydroxyvitamin D in Cultured Skin Fibroblasts

1981 • 143 citations

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

1989 • 142 citations

Lack of Correlation Between Start Codon Polymorphism of the Vitamin D Receptor Gene and Bone Mineral Density in Premenopausal French Women: The OFELY Study

1998 • 142 citations

Functional Domains of the Human Vitamin D₃Receptor Regulate Osteocalcin Gene Expression

1989 • 139 citations

A Familial Syndrome of Decrease in Sensitivity to 1,25-Dihydroxyvitamin D*

1978 • 136 citations

END-ORGAN RESISTANCE TO 1,25-DIHYDROXYCHOLECALCIFEROL

1980 • 132 citations

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.

1997 • 131 citations

Calcium therapy for calcitriol-resistant rickets

1992 • 122 citations

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

1983 • 121 citations

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.

1996 • 120 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

Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13–14

1992 • 103 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

Vitamin D and the hematolymphopoietic tissue: a 1994 update.

1994 • 97 citations

Development of hybridomas secreting monoclonal antibodies to the chicken intestinal 1 alpha,25-dihydroxyvitamin D3 receptor.

1982 • 93 citations

Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects*

1983 • 90 citations

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.

1995 • 89 citations

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

1989 • 88 citations

An Unique Form of Osteomalacia Associated with End Organ Refractoriness to 1,25-Dihydroxyvitamin D and Apparent Defective Synthesis of 25-Hydroxyvitamin D*

1979 • 86 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

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

1984 • 84 citations

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

1989 • 84 citations

Transcriptional activation and dimerization functions in the human vitamin D receptor.

1996 • 83 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

An Unusual Form of Vitamin D-Dependent Rickets in a Child: Alopecia and Marked End-Organ Hyposensitivity to Biologically Active Vitamin D

1980 • 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

Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping

1996 • 67 citations

Mutations in the Vitamin D Receptor Gene in Three Kindreds Associated with Hereditary Vitamin D Resistant Rickets

1997 • 65 citations

Hereditary Resistance to 1,25-Dihydroxyvitamin D

1984 • 62 citations

FEDERAL INTERVENTION

1974 • 62 citations

New insight into the structure and functions of the vitamin D receptor.

1994 • 61 citations

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.

1985 • 60 citations

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

1987 • 58 citations

Genomic actions of 1,25-dihydroxyvitamin D3.

1995 • 57 citations

Calcitriol-Resistant Rickets With Alopecia

1985 • 56 citations

A Novel Nonsense Mutation in the First Zinc Finger of the Vitamin D Receptor Causing Hereditary 1,25-Dihydroxyvitamin D₃-Resistant Rickets

1997 • 55 citations

Vitamin D: metabolism and action.

1996 • 55 citations

Severely Deficient Binding of 1,25-Dihydroxyvitamin D to Its Receptors in a Patient Responsive to High Doses of This Hormone*

1986 • 52 citations

Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia

1986 • 50 citations

Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor

1998 • 48 citations

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

1989 • 47 citations

Hereditary Resistance to 1,25-Dihydroxyvitamin D: Clinical and Radiological Improvement during High-Dose Oral Calcium Therapy

1986 • 46 citations

Vitamin D-resistant rickets: End-organ unresponsiveness to 1,25(OH)2D3

1980 • 45 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

Vitamin D dependent rickets: Decreased sensitivity to 1,25-dihydroxyvitamin D

1981 • 44 citations

Adult-Onset Vitamin D-Resistant Osteomalacia with the Unresponsiveness to Parathyroid Hormone

1980 • 44 citations

Transcriptional activation and dimerization functions in the human vitamin D receptor

1996 • 41 citations

Hereditary Resistance to 1,25-Dihydroxyvitamin D: Defective Function of Receptors for 1,25-Dihydroxy vitamin D in Cells Cultured from Bone*

1983 • 39 citations

The T-Box near the Zinc Fingers of the Human Vitamin D Receptor Is Required for Heterodimeric DNA Binding and Transactivation

1995 • 39 citations

Selective expression of a normal action of the 1,25-dihydroxyvitamin D3 receptor in human skin fibroblasts with hereditary severe defects in multiple actions of that receptor.

1989 • 38 citations

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

1996 • 35 citations

Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets

2018 • 35 citations

Prenatal Diagnosis of Vitamin D-Dependent Rickets, Type II: Response to 1,25-Dihydroxyvitamin D in Amniotic Fluid Cells and Fetal Tissues

1990 • 34 citations

Impaired Stimulation of 25-Hydroxyvitamin D-24-hydroxylase in Fibroblasts from a Patient with Vitamin D-dependent Rickets, Type II

1983 • 30 citations

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

1990 • 28 citations

Vitamin D–Dependent Rickets

1985 • 27 citations

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

1987 • 23 citations

Specific Inter realization and Action of 1,25-Dihydroxyvit; min D₃in Cultured Dermal Fibroblasts from Patients with X-Linked Hypophosphatemia*

1984 • 23 citations

25-Hydroxyvitamin D-24-Hydroxylase in Phytohemagglutinin-Stimulated Lymphocytes: Intermediate Bioresponse to 1,25-Dihydroxyvitamin D₃of Cells from Parents of Patients with Vitamin DDependent Rickets type II*

1990 • 22 citations

"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".

1995 • 22 citations

Rapid diagnosis of vitamin D-dependent rickets type II by use of phytohemagglutinin-stimulated lymphocytes

1986 • 21 citations

Clinical Features of Hereditary Resistance to 1,25-Dihydroxyvitamin D (Hereditary Hypocalcemic Vitamin D Resistant Rickets Type II)

1986 • 19 citations

Clinical and biochemical findings in parents of children with vitamin D‐dependent rickets type II

1990 • 16 citations

Intra-atrial calcium infusions, growth, and development in end organ resistance to vitamin D.

1993 • 16 citations

[Vitamin D-resistant rickets type II: apropos of 2 cases].

1992 • 16 citations

Structural and functional determinants of DNA binding and dimerization by the vitamin D receptor.

1997 • 9 citations