50 citations
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September 2009 in “Molecular Genetics and Metabolism” This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
37 citations
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April 2011 in “Journal of Biological Chemistry” This study discovered a novel interaction between the vitamin D receptor and LEF1, essential for normal Wnt signaling in keratinocytes, which is crucial for regular hair cycling.
277 citations
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July 2002 in “Molecular Endocrinology” In this study, homozygous VDR null mutant mice exhibited nonfunctional vitamin D receptors, leading to growth abnormalities and revealing the limited physiological importance of vitamin D pathways outside the classical receptor.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
48 citations
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August 1998 in “Developmental Biology” In this study, researchers created a mutant mouse lacking the first cut repeat in the Cux/CDP protein, resulting in curly vibrissae and wavy hair, supporting the role of Cux/CDP's DNA binding domains in gene regulation during development.