12 citations
,
September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
46 citations
,
May 1995 in “Proceedings of the National Academy of Sciences” This study demonstrated that a specific 9-kbp fragment of the bovine keratin 6 gene effectively directs tissue-specific and inducible expression in transgenic mice, suggesting potential applications for targeted gene therapy in hyperproliferative skin conditions.
5 citations
,
March 2012 in “Journal of Investigative Dermatology” In their mouse study, Oda et al. found that removing the MED1 gene in the skin led to hair loss and changes in epidermal cell differentiation, indicating MED1's significant role in these processes.
18 citations
,
September 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that vitamin D-upregulated protein 1 (VDUP1) might play a unique role in regulating the differentiation of epidermal cells.
22 citations
,
April 2010 in “Journal of Cellular Biochemistry” This study concluded that the hairless protein interacts with the vitamin D receptor to repress transcription crucial for hair cycling, employing multiple protein interfaces and modulating chromatin structure.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
22 citations
,
November 2016 in “International journal of molecular sciences” This study suggests that impaired VDR signaling in mice leads to dysregulated Ddit4 expression, impacting hair cycle progression and wound healing.
This study demonstrated that a ligand-independent action of the vitamin D receptor significantly affects keratinocyte behavior in hair follicles and skin, pointing to its crucial role in maintaining normal hair and skin structures in rats.
7 citations
,
March 2020 in “PloS one” This study demonstrates that α-parvin is crucial for epidermal morphogenesis and hair follicle development by mediating integrin-dependent adhesion and actin organization in keratinocytes.
January 2025 in “PLoS ONE” This study found that ING5 knockout mice are prone to developing lymphomas and severe dermatitis, suggesting ING5 plays a role in tumor suppression and stem cell maintenance in vivo.
5 citations
,
September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
25 citations
,
August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
2 citations
,
July 2019 in “PeerJ” This study found that the vitamin D receptor plays a crucial role in hair follicle development in cashmere goats by regulating signaling pathways in dermal papilla cells.
59 citations
,
November 2011 in “Development” This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.
33 citations
,
June 2007 in “Gene Expression Patterns” This study found that CTIP2 is highly expressed in mouse skin during embryogenesis and adulthood, suggesting it may play a role in skin development and homeostasis.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
July 2026 in “Pediatric Allergy and Immunology”
September 2023 in “Frontiers in cell and developmental biology” This study found that a catalytically active version of Vav2 significantly altered gene expression patterns in hair follicle stem cells in mice, with these changes varying over the animals' lifespans.
277 citations
,
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.
46 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Acvr1b signaling is crucial for both hair follicle development and cycling in mice, with the genetic disruption leading to hair loss and a thickened epidermis.
50 citations
,
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.
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that specific inhibition of the classical complement pathway with BIVV009 prevented C3 deposition along the dermal-epidermal junction in bullous pemphigoid, reflecting its potential efficacy.
1 citations
,
February 2009 in “Journal of Investigative Dermatology” This study found that VEGF-deficient keratinocytes can form tumors using different aneuploidy and signaling patterns, highlighting VEGF's role beyond angiogenesis in tumor cell growth and survival.
22 citations
,
January 1990
17 citations
,
May 2018 in “PeerJ” This study found that VB-1, a vitexin compound, may promote hair follicle growth by enhancing Wnt/β-catenin signaling in human dermal papilla cells in vitro.
148 citations
,
May 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice lacking the vitamin D receptor (VDR) developed skin tumors more rapidly than those with normal VDR activity, regardless of 1,25-dihydroxyvitamin D(3) presence.
2 citations
,
January 1989 This article discusses the history and understanding of Tay syndrome, recognizing it as a distinct condition related to ichthyotic erythroderma, mental retardation, and brittle hair but reports no new clinical results.
34 citations
,
August 2012 in “Calcified Tissue International” 15 citations
,
May 2006 in “Brain & development” The authors concluded that administering biotin may help prevent alopecia caused by reduced biotinidase activity during valproic acid therapy in rats.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.