May 2024 in “JCI insight” In this study, researchers discovered a dominant variant in the ADAM17 gene that causes hypotrichosis with woolly hair, where the mutation leads to hair follicle stem cell exhaustion and abnormal hair follicles, resulting in alopecia.
49 citations
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May 1974 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” Transamidases are present in the epidermis but their exact role is unclear.
April 2023 in “Advanced functional materials” This study created a Wnt3a protein gradient using Multiphoton Microfabrication technology, which improved hair-inductive properties in mouse and human hair dermal papilla cells, suggesting potential applications in hair regeneration research and drug screening.
91 citations
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July 2004 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme SSAT in a mouse model significantly reduced prostate tumor size and progression, suggesting it could be a promising strategy against prostate cancer.
6 citations
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November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
6 citations
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April 2025 in “Communications Biology” In this study, researchers used a murine model of irritant contact dermatitis to reveal that hair follicle regions serve as key sites for neutrophil transepidermal migration, which requires MMP-9 expression stimulated by dermal monocytes.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
17 citations
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December 2006 in “Gene Expression Patterns” This study reports that the mouse Scube3 gene is expressed in various tissues during embryonic development, including the neural tube, limb buds, developing tooth, hair follicle, and skeletal regions.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” This study identified a new mouse mutation associated with noninflammatory proliferative skin disease and hair abnormalities, drawing parallels to human conditions like Netherton's syndrome and monilethrix.
14 citations
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April 2016 in “PloS one” This study found that the promoter region of the sheep KRTAP11-1 gene drives specific transcriptional activity in wool follicles, suggesting it may regulate hair keratinocyte specificity.
5 citations
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January 1998 in “Journal of Toxicologic Pathology” This study found that topical treatment with Maneb led to delayed epithelial cell degeneration in hair follicles of rats due to apoptosis.
August 2024 in “Cell Death and Disease” This study found that toll-like receptor 9 plays a previously unrecognized role in sensing skin injury and influencing tissue repair and regeneration in adult mice by modulating γδT cell migration.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
52 citations
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July 2011 in “PubMed” This review discusses the diverse roles of the TRPS1 gene in regulating cartilage, kidney, and hair follicle development, highlighting its functions and interactions, but provides no new experimental results.
169 citations
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May 2006 in “Genes & Development” This study found that keratin 17 and TNFα play interdependent roles in regulating hair follicle cycling, with TNFα required for the anagen–catagen transition and its ablation partially rescuing hair cycling defects in K17-null mice.
18 citations
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January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
March 1998 in “Journal of dermatological science” Protease Nexin-1 is found in human hair growth cells and is affected by male hormones.
7 citations
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March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
100 citations
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March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that cystatin M/E strongly inhibits human cathepsin V and cathepsin L via distinct non-overlapping sites, suggesting an important role in human epidermal differentiation and hair follicle morphogenesis.
26 citations
,
February 1998 in “Chemico-Biological Interactions” This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.
March 2024 in “European Journal of Neuroscience” This study, using a reporter mouse line, characterized diverse subtypes of dopaminergic neurons in the enteric nervous system, identifying unique subtypes with potential roles in gut function and disease.
January 2013 in “International Journal of Trichology” This case report describes a young girl with trichothiodystrophy and suggests the need for early diagnosis and multidisciplinary interventions for her educational challenges.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that early pigment cell markers Sox10 and c-KIT, as well as DCT/TRP-2, were detectable in melanogenically-active melanocytes of the anagen bulb in human hair follicles.
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.
17 citations
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June 2019 in “BMC genomics” This study cataloged several long non-coding RNAs and microRNAs in cashmere goat dermal papilla cells, suggesting these non-coding RNAs may play a role in hair follicle stem cell activation and hair growth.
19 citations
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March 2012 in “Journal of experimental botany” The researchers reported that in Arabidopsis collet hairs, nuclear positioning near the cell tip is not essential for hair growth, although it correlates with growth dynamics.
July 2012 in “European journal of cancer” This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that CTCF is crucial for proper skin and hair follicle development in mice, affecting keratinocyte differentiation and gene expression in keratin loci.
21 citations
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September 1997 in “British Journal of Dermatology” This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.