March 2023 in “Mağallaẗ wāsit li-l-ʿulūm wa-al-ṭibb” This case report details a family in Iraq with biotin deficiency, highlighting improved outcomes in surviving children following diagnosis and lifelong biotin supplementation.
3 citations
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July 2022 in “Stem Cell Research & Therapy” This study found that knocking out the integrin β1 subunit in induced pluripotent stem cells enhanced their migration and improved their wound-healing effects in a mouse model.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
78 citations
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November 2005 in “Endocrinology” This study found that Hairless (Hr) acts as a corepressor of the vitamin D receptor (VDR) in human keratinocytes, blocking the action of vitamin D on keratinocyte differentiation.
144 citations
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December 2004 in “Molecular Endocrinology” This study found that the effects of the vitamin D receptor on hair follicle cycling in mice are independent of its ability to bind a hormone, with specific domain mutations influencing hair regrowth outcomes.
This case report describes a six-year-old child with congenital biotinidase deficiency whose symptoms, including breathlessness, alopecia, and hearing loss, were reversed with biotin supplementation.
August 2025 in “International Journal of Molecular Sciences” This study found that arginine vasotocin is evolutionarily conserved across diverse taxa and may play roles in neuroendocrine, immune, and stress signaling, with potential antimicrobial applications.
8 citations
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May 2019 in “Journal of dermatological treatment” This study found that vismodegib was effective in treating basal cell carcinoma, achieving complete remission in some patients; however, significant side effects often required careful management to prevent therapy suspension, which can lead to resistance.
20 citations
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January 2017 in “Experimental Dermatology” In this study, deleting the Igf1 receptor in specific skin cells of mice affected hair follicle cycling but not overall skin health, suggesting Igf1r's role in hair cycle regulation through Bmp-4 activation.
10 citations
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January 1992 in “Screening” This study concluded that newborn screening for biotinidase deficiency effectively identified cases and likely prevented irreversible complications from the disorder in some infants.
250 citations
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November 2003 in “The Journal of Cell Biology” This study found that BMP receptor IA is crucial for hair progenitor cell differentiation in mice, and its sequential inhibition and activation are necessary to generate a functioning hair shaft.
9 citations
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December 1996 in “Cell Biology and Toxicology” This study found that conditioned medium from hair dermal papilla cells stimulated fetal bovine aortic endothelial cell growth and migration, suggesting VEGF-like activity in the medium.
4 citations
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January 2013 in “Genetics and Molecular Research” This study found that VEGF expression and microvessel density in hair follicles of Liaoning cashmere goats follow a bimodal pattern correlated with hair development throughout the year.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.
25 citations
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August 2010 in “Journal of Biological Chemistry” This study found that NFI-C plays a crucial role in the transition from the telogen to anagen phase of the hair follicle cycle, affecting hair growth initiation in mice.
In this study, VB-1 was reported to promote human hair follicle growth by enhancing Wnt/β-catenin signaling and increasing human dermal papilla cell proliferation in vitro.
28 citations
,
November 2018 in “Journal of Cellular and Molecular Medicine” This review discusses the role of the CXXC5 protein as a transcription factor and signaling coordinator, noting its involvement in embryonic development, tissue homeostasis, and diseases such as tumorigenesis, but reports no new experimental findings.
3 citations
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April 2021 in “Biomolecules & Therapeutics” In a mouse model of chemotherapy-induced alopecia, this study found that enhancing ETV2 expression improved angiogenesis and hair regrowth following 5-fluorouracil treatment.
73 citations
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October 2001 in “Epilepsia” In this study, valproic acid treatment was associated with reduced biotinidase activity and improved skin lesions after biotin supplementation in children with seizures.
9 citations
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December 2014 in “Neuropsychiatric Disease and Treatment” This study found that patients with vitiligo had significantly lower serum BDNF levels compared to healthy controls, which may relate to the condition's etiology or its association with psychiatric disorders.
9 citations
,
October 2014 This chapter hypothesizes that vitamin D signaling in the skin may suppress UV radiation-induced epidermal tumor formation, reviewing potential mechanisms without reporting new clinical results.
18 citations
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April 2010 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This research suggests that the vitamin D receptor may regulate hair follicle cycling and provide genoprotection against skin carcinogenesis through a mechanism independent of 1,25-dihydroxyvitamin D3, based on evidence from mouse models.
January 2026 in “Biochemical Pharmacology”
42 citations
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July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
March 1993 in “Neuroscience letters” This summary outlines the essential roles and recommended daily intakes of biotin, while discussing consequences and mechanisms of deficiency, but presents no new research findings.
4 citations
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December 2024 in “Clinical Cosmetic and Investigational Dermatology” This study suggests that combining baricitinib with narrowband UV-B therapy is an effective and well-tolerated approach for treating active nonsegmental vitiligo.
11 citations
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March 2021 in “Molecular Carcinogenesis” This study found that deleting the transcription factor Twist1 in keratinocytes significantly reduced UVB-induced skin carcinogenesis in mice, suggesting a potential target for preventing cutaneous squamous cell carcinoma.
June 2026 in “Journal of Investigative Dermatology” This study found that certain proteins linked to immune suppression and melanogenesis are associated with repigmentation in vitiligo patients undergoing standard treatment, suggesting these proteins and their pathways play roles distinct from merely reversing skin lesions.
47 citations
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February 1998 in “Journal of bone and mineral research” In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.