November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
July 2025 in “Genome biology” This study highlighted the effectiveness of HT-scCAT-seq as a tool for understanding gene regulation in single cells, offering insights into embryonic skin development and proposing a framework for exploring regulatory mechanisms in various biological and disease contexts.
April 2021 in “Journal of Investigative Dermatology” Krox20 is crucial for hair growth and maintaining skin stem cells.
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.
April 2017 in “Journal of Investigative Dermatology” This study demonstrated that mitochondrial function in keratinocytes is crucial for maintaining skin homeostasis and hair follicle development, as its impairment led to disrupted hair morphogenesis and early death in mice.
July 1995 in “Journal of Dermatological Science” 27 citations
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July 2013 in “Journal of Investigative Dermatology” Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.
18 citations
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August 2018 in “The FASEB journal” This study found that Hoxc13-/- rabbits exhibit complete hair loss on the head and dorsum, providing a potential model for understanding human ECTD-9 and related dermatological conditions.
August 1994 in “Molecular Endocrinology” This study found that AtT-20 pituitary cells with higher cAMP-dependent kinase activity had larger calcium currents and significantly increased beta-endorphin release compared to cells with lower kinase activity.
56 citations
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July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
9 citations
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February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.
9 citations
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November 2013 in “Journal of Investigative Dermatology” This study found that transgenic mice with keratinocyte-specific overexpression of CtBP1 exhibited abnormal hair follicle development, suggesting CtBP1 may play a pathogenic role in hair morphogenesis.
25 citations
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May 1994 in “Journal of Investigative Dermatology” This study identified a novel gene, hacl-1, that is specifically expressed in the hair follicles of ICR mouse skin and is associated with their active state.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that AP-2α and AP-2β transcription factors are crucial for maintaining adult skin homeostasis, with their inactivation in keratinocytes leading to impaired differentiation, hair abnormalities, and inflammation, highlighting their key regulatory roles.
1 citations
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October 2023 in “PROTOPLASMA” 16 citations
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July 1996 in “Journal of Investigative Dermatology” 6 citations
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March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
April 2017 in “Journal of Investigative Dermatology” This study suggests that PKCß plays a critical role in modulating the dermal inflammatory microenvironment in response to dietary lipids in mice.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
August 2012 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” This study found that FGF18 is crucial for regulating hair follicle rest and growth phases, as its absence in mice leads to a shorter resting phase and rapid hair cycling.
48 citations
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October 2004 in “Molecular and Cellular Biology” In this study, Brca1(S971A/S971A) mice showed a moderately increased risk of spontaneous tumor formation and defects in DNA damage response, suggesting CHK2 phosphorylation of BRCA1 is crucial for tumor suppression.
August 2001 in “The Journal of Cell Biology” In this study, the researchers identified a third keratin 6 gene in mice and developed a double knockout model that could aid in hair growth research.
2 citations
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August 2020 in “Scientific reports” This study identified genes potentially involved in the development and differentiation of skin appendages in Atelerix albiventris, noting significant enrichment of immune-related genes in hair-type tissues.
4 citations
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May 1998 in “PubMed” This study found that the Bsk phenotype in mice did not result from a recombination event between specific keratin genes, leaving the gene linked to this mutation unidentified.
2 citations
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February 2021 in “FEBS open bio” In this study, transfection experiments showed that mutations in the K85 gene affect filament formation with K35, which may impact hair formation related to ectodermal dysplasia.
21 citations
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January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
39 citations
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December 1998 in “Journal of Cell Science” This study found that the LEF-1 binding site acts as an enhancer element for the wool keratin intermediate filament gene promoter in hair follicle cortex, with specificity regulated by additional factors.
3 citations
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August 2018 in “Journal of Structural Biology” KAP8.1 protein is crucial for hair structure and interacts with keratin 85.
49 citations
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August 2004 in “The FASEB Journal” This study found that transgenic mice expressing human keratin K8 in the epidermis showed increased progression of skin lesions toward malignancy, suggesting a role for K8 in the development of invasive skin cancer.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that deleting all three Tet genes in mice led to shorter hair shafts and altered hair types, with associated changes in gene expression and DNA hydroxymethylation.