April 2024 in “Demiroglu Science University Florence Nightingale Journal of Medicine” This review highlights the role of the APCDD1 gene and associated pathways in hair follicle biology, offering new perspectives on genetic contributors to hair loss and suggesting potential avenues for developing targeted treatments and preventive strategies.
20 citations
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February 2010 in “Journal of Investigative Dermatology” Slug (Snai2) helps regulate hair growth timing in mice.
41 citations
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October 2001 in “Experimental Dermatology” This review discusses the molecular and functional aspects of the nude gene in skin biology, providing insights into its role and evolutionary development, but reports no new results.
November 2023 in “Вопросы современной педиатрии” This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.
12 citations
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October 2021 in “Cells” This review discusses the potential of miRNA-mediated hair growth treatments for androgenetic alopecia by targeting DKK1 to modulate the Wnt/β-catenin signaling pathway and reports no new clinical findings.
March 2026 in “Cell Death Discovery” In this comprehensive review, researchers examine the p63 gene's crucial role in skin development and pathology, highlighting its regulation of cell processes and its potential therapeutic implications for disorders like ectodermal dysplasia.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
11 citations
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September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
3 citations
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February 2022 in “Frontiers in Genetics” This study found that overexpression of the lncRNA AC010789.1 in hair follicle stem cells may suppress androgen alopecia progression by modulating several molecular pathways, suggesting a potential new treatment strategy.
8 citations
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June 1981 in “Clinica Chimica Acta” July 2024 in “Journal of Investigative Dermatology” 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.
February 2025 in “Journal of Clinical Investigation” This study found that RNase L acts as a regeneration repressor gene in mammals, as seen in Rnasel-/- mice which showed increased regenerative capacity and elevated Wound Induced Hair Neogenesis through enhanced IL-36α signaling, suggesting a tradeoff between regeneration and immune regulation.
This study found that the dark pigmentation pattern in Dun Mongolian horses' "Bider marking" is closely associated with higher protein levels and specific localization of MITF and WNT3A, suggesting these are key factors in its formation.
1 citations
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August 2022 in “Pigment Cell & Melanoma Research” This study presents two new mouse models using the CreER T2-loxP system to target and study melanocytic cells, with implications for melanoma research.
6 citations
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January 2024 in “Annals of Dermatology” In this study, treatment with recombinant DKK2 was shown to significantly stimulate hair progenitor cell growth and enhance hair shaft elongation in ex vivo human hair follicle cultures by activating the Wnt/ẞ-catenin signaling pathway, suggesting a potential role for DKK2 in promoting hair growth.
This study found that selectively inactivating ribonucleotide excision repair in mouse epidermis leads to DNA damage, keratinocyte intraepithelial neoplasia, and squamous cell carcinoma, indicating a potential tumor-promoting mechanism related to compromised genome maintenance.
8 citations
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September 2017 in “Journal of Investigative Dermatology” This study found that inhibiting the interaction between CXXC5 and Dishevelled could stimulate hair regrowth in mouse models by enhancing WNT/β-catenin signaling, suggesting a potential therapeutic strategy for hair loss involving compounds that block this interaction, such as interfering short peptides.
7 citations
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July 2008 in “Experimental Dermatology” This study identified molecular elements controlling the expression and stabilization of THH protein in hair follicle cells, revealing key mechanisms that support hair shaft development in mice.
40 citations
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May 2005 in “Journal of Cell Science” In this study, transgenic mice expressing a truncated form of latent transforming growth factor-β-binding protein exhibited altered hair cycles due to increased active transforming growth factor-β, impacting keratinocyte proliferation and hair cycle phases.
January 2006 in “Dianzi xianwei xuebao” This study observed that ultrastructural changes like lamellar bodies and electron-dense granules in the stratum corneum may aid in the early diagnosis of Netherton syndrome.
69 citations
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January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
March 2023 in “Journal of Cosmetic Dermatology” This study in Japanese women identified SNP rs2419385 as significantly associated with hair thinning, suggesting potential involvement of nearby genes in its development.
This study identified 92 novel regulators of melanogenesis, highlighting Aldehyde dehydrogenase 1A1 as a potential target for developing new treatments for hyperpigmentation disorders like melasma.
3 citations
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
2 citations
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October 2010 in “BMB Reports” In this study, L-threonate was observed to inhibit DHT-induced DKK-1 expression in dermal papilla cells and reverse DHT's inhibitory effects on outer root sheath cell growth, suggesting potential as a treatment for androgen-driven balding.
6 citations
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January 2011 in “European Journal of Dermatology” This article discusses monilethrix, a rare human hair dysplasia caused by mutations in hair keratins, but reports no new clinical findings.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
April 2012 in “Cancer research” In this study, the authors found that targeting mTORC1 with rapamycin inhibited TPA-induced skin tumor promotion by affecting keratinocyte proliferation, including critical stem cell populations in the mouse epidermis.
4 citations
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February 2023 in “Stem Cell Research & Therapy” This study found that papillary dermal fibroblast progenitors in newborn mouse skin can be isolated and cultured to generate male germline cell precursors, demonstrating their potential through differentiation into cells with meiotic capability.