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

P J Malloy, Ze’ev Hochberg, Dov Tiosano, +3

Journal of Clinical Investigation

Primary ImmunodeficiencyVdr MrnaAutoimmune DiseaseGenetic DisorderGenetics +12

The Vitamin D Receptor and the Syndrome of Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

P J Malloy

Endocrine Reviews

Clinical NutritionPharmacologyVitamin D ReceptorMedicineMolecular Medicine

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

Helena H. Ritchie, Mark R. Hughes, E T Thompson, +5

Proceedings of the National Academy of Sciences

Vitamin D. FourFamily MembersGenetic DisorderMedicineGenetics +11

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.

P J Malloy, T. Ross Eccleshall, Coleman Gross, +3

Journal of Clinical Investigation

Decreased AffinityGenetic DisorderMedicineGeneticsInherited Metabolic Disease +8

Candida albicans estrogen-binding protein gene encodes an oxidoreductase that is inhibited by estradiol.

Nahid D. Madani, P J Malloy, Pilar Rodríguez‐Pombo, +2

Proceedings of the National Academy of Sciences

Fungal Cell BiologyGeneticsMolecular BiologyEscherichia ColiMolecular Genetics +15

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

Teruo Sone, R. Scott, Mark Hughes, +4

Journal of Biological Chemistry

Mutant VdrHereditary ResistanceEpigenetic Regulation1,25-Dihydroxyvitamin D3Genetics +10

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

Nancy U. Lin, P J Malloy, Nadia Sakati, +2

The Journal of Clinical Endocrinology & Metabolism

Novel MutationGenetic DisorderSaudi ArabiaGeneticsInherited Metabolic Disease +10

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

P J Malloy, Xiao‐Fan Zhao, Nahid D. Madani, +1

Proceedings of the National Academy of Sciences

Fungal Cell BiologyGeneticsMolecular BiologyGene CharacterizationMolecular Genetics +18

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

P J Malloy, Y. Weisman, David Feldman

The Journal of Clinical Endocrinology & Metabolism

Hereditary 1Epigenetic RegulationMedicineGeneticsInherited Metabolic Disease +9

Oestrogen-binding protein in Candida albicans: antibody development and cellular localization by electron immunocytochemistry

Xiao‐Fan Zhao, P J Malloy, C. Murray Ardies, +1

Microbiology

Antibody DevelopmentBiosynthesisBiochemistryFungal Cell BiologyCandida Albicans +12