May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.
15 citations
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December 2014 in “PLoS ONE” This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.
4 citations
,
August 2013 in “Chinese Medical Journal” This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
64 citations
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August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.
September 2025 in “Journal of the American Academy of Dermatology” Ritlecitinib may help treat alopecia areata by protecting hair follicles.
2 citations
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May 2022 in “The journal of immunology/The Journal of immunology” In vivo using the C3H mouse model, this study observed that BST2 expression occurs before hair loss in alopecia areata and is followed by an increase in epidermal γδ T cell numbers.
344 citations
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May 2018 in “EMBO journal” This review discusses the regulation of the MiT-TFE family transcription factors, particularly TFEB, through phosphorylation-mediated subcellular localization and reports no new clinical results.
3 citations
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January 2014 Collagen XVIII and Bmx tyrosine kinase are important for hair growth and skin cancer development.
13 citations
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January 2018 in “Advances in experimental medicine and biology”
January 2026 in “Communications Biology” This study constructed a single-cell atlas of hair follicle cells from yaks and taurine cattle, revealing that differences in WNT signaling within dermal papilla cells may be key to the yak's adaptation to cold environments on the Qinghai-Tibet Plateau.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified that disrupting Mef2c in dermal papilla cells delays the early stages of hair cycle catagen in mice, revealing potential interactions with Sox18 in regulating hair growth.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
9 citations
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April 2006 in “American Journal of Pathology” This study found that mutations in the Sgk3 gene cause defective hair follicle development and altered hair cycling in mice, with variable phenotypic outcomes depending on different dysfunction patterns of the SGK3 protein.
October 2025 in “Cell Death and Disease” In this study, researchers developed two novel mouse models to investigate how CD271 deletion in keratinocytes affects skin homeostasis, finding that it leads to changes resembling dysplastic skin conditions with immune cell recruitment and inflammatory cytokine release.
17 citations
,
November 2000 in “Journal of Investigative Dermatology” ZPK helps skin cells mature and may affect skin health.
1 citations
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October 2025 in “Journal of Allergy and Clinical Immunology” A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
April 2023 in “Journal of Investigative Dermatology” This study found that KROX20 is crucial for hair follicle development and epidermal homeostasis, as its deletion in skin epithelial cells led to hair loss and increased epidermal thickness.
6 citations
,
March 2019 in “Medical science monitor basic research/Medical science monitor. Basic research” This study found that phosphorylated VEGFR-2 is present in human scalp epidermal appendages and suggests it plays a role in their daily regulation.
14 citations
,
July 2019 in “Journal of Investigative Dermatology” In this study, targeted inactivation of the integrin-linked kinase gene in melanoblasts led to defects in cell migration, proliferation, and ability to populate the skin, implicating an integrin-linked kinase-Rac1 connection in melanocyte function.
May 2005 in “Cancer Research” This study found that over-expression of thymosin beta-4 in transgenic mice accelerated wound healing and hair growth, but did not affect tumor progression despite stimulating tumor metastasis.
3 citations
,
January 2005 in “Photochemistry and Photobiology” This study found that overexpression of PKCɛ in mouse epidermis increased sensitivity to metastatic squamous cell carcinoma, suggesting that a PKCɛ-mediated microenvironment may promote cancer development through specific cytokines like TNFα.
9 citations
,
January 2018 in “Acta dermato-venereologica” This study found that carbonic anhydrase II was significantly upregulated in human keratinocytes when treated with toll-like receptor 3 agonist and Th2 cytokines, suggesting its potential role in inflammatory skin conditions.
508 citations
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June 2009 in “Current drug metabolism” This review details the skin and hematological toxicities of tyrosine kinase inhibitors like erlotinib, gefitinib, and imatinib, and highlights ongoing concerns about cardiac toxicity, reporting no new clinical findings.
35 citations
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January 2006 in “Cancer Research” This study found that overexpressing PKCδ in transgenic mice did not reduce squamous cell carcinoma development induced by UV radiation, despite its effectiveness against TPA-promoted cancer in these mice.
April 2017 in “Journal of Investigative Dermatology” In this study, CTCF was found to play essential roles in epidermal differentiation and skin barrier formation, simultaneously acting as a suppressor of epithelial inflammatory responses in mouse skin.
140 citations
,
March 2013 in “The journal of immunology/The Journal of immunology” This study found that IL-7 is crucial for the survival of memory regulatory T cells in the skin of mice, whereas IL-2 is essential for their initial generation but not for their maintenance.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
November 2009 in “Medical & surgical dermatology” This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.
July 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, researchers focused on the "bulge region" of hair follicles, identifying Janus kinases as key players in hair growth signaling, which could inform new therapies for hair restoration.