In this case report, a 25-year-old woman with VKHD experienced an unusual occurrence of vellus-like hair growth on her normally hairless palm, observed twice over two years, expanding the known integumentary manifestations of VKHD.
7 citations
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July 2001 in “Endocrinology” This study observed that knocking out the 1α-hydroxylase gene in mice resulted in rickets and growth retardation, demonstrating the enzyme's crucial role in vitamin D function in animals.
100 citations
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August 2011 in “Journal of Investigative Dermatology” Lack of vitamin D receptor increases skin tumor risk by boosting hedgehog signaling.
April 2018 in “Journal of Investigative Dermatology” This study demonstrated that in genetic mouse models, the calcium sensor Stim1, not Stim2, is essential for sweat secretion in sweat glands.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that varicella-zoster virus infection in skin cells may play a role in segmental vitiligo's progression and depigmentation.
January 2008 in “Summit (Simon Fraser University)” This article describes viDA Therapeutics Inc.'s focus on developing new drugs for age-related conditions using their proprietary granzyme-based approach but reports no clinical outcomes, primarily discussing their funding and business strategy.
3 citations
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June 2000 in “Journal of The American Academy of Dermatology” This study found that older men with vertex balding have lower circulating levels of the protein IGFBP-3 and higher levels of IGF-1.
111 citations
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April 2006 in “Annals of the New York Academy of Sciences” This study found that preventing abnormal mineral ion homeostasis in vitamin D receptor knockout mice stopped bone abnormalities, while the animal's skin phenotype arose from direct receptor effects independent of vitamin D.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
7 citations
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August 2021 in “Open Access Macedonian Journal of Medical Sciences” In this case–control study, the researchers in Ukraine found no significant link between VDR rs2228570 polymorphism and decreased serum BDNF levels, though they observed a moderate correlation between serum BDNF and 25-OH Vitamin D levels in patients with thyroid disorders.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
1 citations
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September 2023 in “Life science alliance” In this study, researchers observed that Vdr-knockout mice experience hair cycle arrest during the catagen stage, leading to alopecia, with persistent epithelial strands forming in the hair follicles, indicating Vitamin D receptor's role in regulating hair follicle regression and regeneration.
25 citations
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April 1985 in “Journal of Investigative Dermatology”
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that Elf5 plays a crucial role in regulating stem cell processes involved in skin and hair follicle development and regeneration, impacting cell proliferation and differentiation.
4 citations
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November 2024 in “Journal of Advanced Research” In this study, the researchers reported that NMMHC IIA dissociates from PAR1 and activates the CREB3/ARF4 pathway, worsening thrombin-induced blood-brain barrier damage, suggesting it as a potential therapeutic target for blood-brain barrier-related diseases.
1 citations
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May 2016 in “Journal of Cosmetic Dermatology” This study found that the expression of CK 15 and CK 19 in vitiligo patients undergoing phototherapy was correlated with improved repigmentation, suggesting their potential as markers for stem cell stimulation.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
September 2023 in “Journal of the American Academy of Dermatology” In this study of pediatric melanocytic lesions, researchers at Massachusetts General Hospital observed no concurrent BAP1 loss and BRAFV600E positivity, characteristics of adult BIMT, suggesting that these tumors may develop at a later age rather than in childhood.
5 citations
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June 2012 in “Journal of Investigative Dermatology” Harris et al. describe a new mouse model for vitiligo, where interfollicular melanocytes are retained and melanocyte-targeting immune responses are simulated, aiding the development of immunomodulatory therapies.
September 2016 in “Journal of dermatological science” The researchers reported that the OVOL1-OVOL2 axis may play a role in hair follicle differentiation and tumorigenesis, and OVOL1 and OVOL2 are potential diagnostic markers for pilomatricoma and pilomatrix carcinoma.
This pilot study employed in-vivo multiphoton microscopy to visualize pigment-producing melanocytes in vitiligo patients, aiming to enhance understanding of treatment impacts and potentially improve transplantation therapies.
6 citations
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April 2005 in “Journal of dermatological science” This study identified the expression sites of five KAP5 genes on human chromosome 11q13.5 in scalp skin sections but did not explore their detailed distribution within hair follicles.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that TSPyV T antigens can disrupt normal cell differentiation and proliferation in hair follicles and interfollicular epidermis, possibly contributing to trichodysplasia spinulosa pathology.
38 citations
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September 2011 in “PLOS ONE” This study found that activin B promotes epithelial wound healing in mice through the RhoA-Rock-JNK-cJun signaling pathway, suggesting a potential therapeutic role for activin B in wound repair.
January 2000 in “Europe PMC (PubMed Central)” 35 citations
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October 2013 in “Journal of Dermatological Science” This study observed that VEGF165 increases proliferation and migration but alters adhesion properties of cultured human hair follicle cells, indicating a potential role for VEGF/VEGFR-2 in hair follicle regulation beyond angiogenesis.
31 citations
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January 2007 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that c-Jun is essential for vitamin D receptor expression, and the vitamin D receptor inhibits c-Jun-dependent cell death through non-classical mechanisms independent of vitamin D3.
January 2025 in “Genetics in Medicine Open” This case report highlights a 33-year-old male initially misdiagnosed with Neuromyelitis Optica, whose symptoms may improve with biotin treatment due to late onset biotinidase deficiency.
72 citations
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October 1988 in “Archives of Disease in Childhood” This study found that while biotin treatment improves clinical and biochemical symptoms in patients with biotinidase deficiency, some experience lasting neurological damage, and it is uncertain if early treatment can prevent this.