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    1. 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 · 2009 · 50 citations
    2. A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers The American Journal of Human Genetics · 1998 · 83 citations
    3. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    4. Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome Endocrine journal · 2008 · 3 citations
    5. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    6. Lymphoid Enhancer-binding Factor-1 (LEF1) Interacts with the DNA-binding Domain of the Vitamin D Receptor Journal of Biological Chemistry · 2011 · 37 citations
    7. Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype Developmental Dynamics · 2000 · 75 citations
    8. Genetically separable determinants of hair keratin gene expression Developmental Dynamics · 2000 · 27 citations
    9. Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity 1998 · 227 citations
    10. Intermolecular NH 2 -/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity UNC Libraries · 2021 · 2 citations
    11. Androgen receptor modulators: a review of recent patents and reports (2012-2018) Expert Opinion on Therapeutic Patents · 2019 · 23 citations
    12. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene Journal of Pediatric Endocrinology and Metabolism · 2014 · 10 citations
    13. A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses Bone · 2014 · 12 citations
    14. A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity The Journal of Clinical Endocrinology & Metabolism · 2005 · 91 citations
    15. Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Hormone Research in Paediatrics · 2016 · 8 citations
    16. Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II Calcified tissue international · 2009 · 18 citations
    17. Deletion of Deoxyribonucleic Acid Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D Molecular Endocrinology · 2002 · 277 citations
    18. One Transgene: Two Outcomes Science s STKE · 2002
    19. One Transgene: Two Outcomes Science Signaling · 2002
    20. Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene Developmental Biology · 1998 · 48 citations
    21. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    22. Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia Scientific Reports · 2017 · 20 citations
    23. Role of the vitamin D receptor in hair follicle biology The Journal of Steroid Biochemistry and Molecular Biology · 2007 · 54 citations
    24. Functional analysis of vitamin D receptor (VDR) using adenovirus vector 2023 · 4 citations
    25. Human Hairless Protein Roles in Skin/Hair and Emerging Connections to Brain and Other Cancers Journal of Cellular Biochemistry · 2017 · 15 citations
    26. Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain Journal of Investigative Dermatology · 2000 · 77 citations
    27. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    28. Physical and Functional Interaction between the Vitamin D Receptor and Hairless Corepressor, Two Proteins Required for Hair Cycling Journal of Biological Chemistry · 2003 · 215 citations
    29. A kindred with mutant IKAROS and autoimmunity Journal of Allergy and Clinical Immunology · 2018 · 37 citations
    30. Structural perspectives on the androgen receptor, the elusive shape-shifter Steroids · 2024