January 2014 in “eScholarship (California Digital Library)” In this study, researchers observed that TLR3 and scavenger receptors play key roles in skin barrier repair following UVB damage, contributing to our understanding of cellular responses to skin injury.
12 citations
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June 2013 in “Gene” This study identified seven gene sequences related to Type III Brush Hair formation in Yangtze River Delta white goats, contributing to our understanding of hair growth and follicle cycles.
27 citations
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November 2007 in “Genomics” This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.
82 citations
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March 2012 in “Development” This study found that deleting the miRNA processing enzymes Drosha and Dicer from mouse skin epithelial cells disrupted normal hair follicle development and maintenance, leading to follicular degradation and stem cell loss during the growth phase.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
10 citations
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November 2018 in “Genetics in medicine” This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.
8 citations
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March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that weakened anchorage of hair shafts, associated with the abnormal expression of 14-3-3σ, may contribute to alopecia in Er/+ mice.
85 citations
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August 2015 in “Journal of Applied Genetics” This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
37 citations
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December 1995 in “Journal of Cell Science” This study found that nexin 1 mRNA, a potent protease inhibitor, is prevalent in rat follicular papilla cells and may play a role in regulating hair follicular growth.
2 citations
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April 2019 in “Journal of Investigative Dermatology” This study found that overexpression of Gasdermin A3 in mice disrupts the hair follicle stem cell niche and causes hair loss through cell necrosis and abnormal hair cycle progression, without involving immune-mediated mechanisms.
March 2026 in “Journal of Investigative Dermatology” 372 citations
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December 2004 in “Nature Genetics” 5 citations
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May 2024 in “Developmental Cell” Lower GATA3 levels in mice help hair regrow by changing certain immune cells.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
35 citations
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August 2010 in “The American journal of pathology” This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.
April 2023 in “Journal of Investigative Dermatology” This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.
May 2026 in “Nature Communications” This study observed that the loss of H3K9me3, via the ablation of Suv39h1, Suv39h2, and Setdb1 in embryonic mouse epidermis, disrupts skin development processes such as keratinocyte differentiation and hair follicle formation, highlighting H3K9me3's crucial role in epidermal morphogenesis.
11 citations
,
July 2010 in “European Journal of Dermatology” In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
47 citations
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June 2019 in “Nature Communications” This study found that self-noncoding dsRNA activates TLR3 to stimulate intrinsic retinoic acid synthesis, promoting new hair follicle formation in wounded mice and showing similar gene expression changes in humans treated with rejuvenation lasers.
6 citations
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December 2023 in “Journal of Molecular Cell Biology” In this study, Gsdma1/2/3 knockout mice showed reduced epidermal hyperplasia and inflammation when induced by PMA, which was attributed to decreased EGFR-Stat3/Akt signaling due to a decrease in related ligands.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that TLR3-mediated damage sensing can stimulate prostaglandin and Wnt pathways, potentially coordinating hair follicle regeneration in mice with large skin wounds.
8 citations
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January 2017 in “Journal of Biological Chemistry” This study found that astrotactin-2 undergoes unique intramembrane proteolysis during maturation, revealing specific transmembrane topologies and substrate sequence requirements for cleavage.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
January 2008 in “Memorial University Research Repository (Memorial University)” This study found that the NHD domain, but not the PHD domain, of hPygo2 is crucial for Wnt-independent growth of ovarian cancer cells, and identified a key interaction with Treacle protein involved in ribosomal biogenesis.
52 citations
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November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers introduced a mutation in mice to mimic Olmsted syndrome and found that the mutation caused hair loss due to impaired keratinocyte differentiation and depletion of hair follicle stem cells.
39 citations
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September 2007 in “BMC developmental biology” This study found that Neuregulin3 can influence the development and differentiation of mammary glands and epidermal features in mice, potentially by inducing c-Myc and altering cell proliferation and adhesion.