September 2016 in “Journal of Dermatological Science” This study found that epidermal-specific deletion of aPKCλ in mice disrupted hair follicle stem cell quiescence and regeneration, leading to abnormal hair cycling and skin changes.
29 citations
,
June 2010 in “The Journal of Dermatology” This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.
8 citations
,
January 2013 in “genesis” This study identified a new transcriptional repressor, Zfp157, as a target of Stat6 in the mammary gland, expressing in various tissues during mouse embryogenesis and adulthood.
January 2024 in “Theranostics” This study found that HDAC6 plays a crucial role in regulating primordial follicle activation, with its overexpression delaying activation and preserving fertility by reducing NGF levels.
8 citations
,
August 1987 in “The Journal of Dermatology” This study reports that the monoclonal antibody BKN-1 specifically stained basal cell epithelioma cells and certain normal skin structures, indicating a similarity in keratin expression between the tumor and follicular epithelium below the isthmus portion.
22 citations
,
July 1998 in “Journal of Investigative Dermatology” This study identified and characterized a gene called 4C32, which is expressed in the periderm of embryonic mouse skin and has a structure similar to keratin-associated proteins.
January 2024 in “Doria (University of Helsinki)” This study found that in mouse pancreatic β-cells, the disruption of keratin filaments due to a specific mutation in keratin 18 resulted in altered GLUT2 localization, with less GLUT2 present on the plasma membrane compared to cells with normal keratin.
July 2022 in “Journal of Investigative Dermatology” This study found that Dkk4-knockout mice exhibited disrupted hair follicle patterning, including a lack of the first wave of hair follicles in the lateral back skin.
19 citations
,
January 2015 in “Development” This study found that misexpression of Hoxc8 in mice led to ectopic mammary development and suggests Hox genes may play crucial roles in the regional specification and initiation of cutaneous accessory organs.
7 citations
,
December 2007 in “Poultry Science” In this study, beta-catenin expression was found to be significant in embryonic goose skin during early feather bud development, with patterns similar to Shh expression, suggesting its importance in normal development.
1 citations
,
November 2023 in “Chemical and Biological Technologies in Agriculture” This study found that JUNB enhances hair regeneration in mice by promoting dermal papilla cell proliferation through the Wnt signaling pathway, suggesting JUNB as a potential molecular target for improving cashmere quality and breeding in cashmere goats.
30 citations
,
January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In a keratinocyte-specific knockout mouse model, this study found that deleting GRK2 disrupted hair follicle homeostasis, causing cyst-like structures, abnormal growth patterns, and eventual hair loss, suggesting potential links to immune-mediated alopecias.
3 citations
,
March 2025 in “Science Advances” This study found that the unique crest feather formation in Polish chickens is driven by a 195-bp duplication in the HoxC10 gene region, which alters gene expression by modifying the genomic structure, suggesting a mechanism for diverse integumentary appendages in birds.
17 citations
,
August 2018 in “BMC Genomics” The researchers found that HOXC13 regulates different keratin proteins in a mixed manner, with certain SNPs impeding this regulation, while also demonstrating negative-feedback by HOXC13 and positive regulation by LEF1 and melatonin on the HOXC13 promoter.
24 citations
,
January 1985 in “Dermatology” This study reports that OKT6-positive dendritic cells increase in hair follicles during progressive alopecia areata, suggesting a potential role in disease pathogenesis through interaction with T cells.
May 2025 in “Proceedings of the National Academy of Sciences” In this study, researchers found that the histone demethylase UTX is crucial for regulating skin differentiation through retinoic acid signaling, mainly impacting females, as males compensate with a Y-linked paralog.
15 citations
,
June 2012 in “British Journal of Dermatology” This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.
75 citations
,
October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
August 2012 in “Nature Cell Biology” In this study, researchers found that β-catenin directly promotes TERT expression in stem and cancer cells by interacting with the Tert promoter, illustrating a mechanistic link between tumorigenesis and pluripotency.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
165 citations
,
September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
4 citations
,
October 2003 in “Annales de Génétique” This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
June 2008 in “Wound Repair and Regeneration” In this study, Msx-2 knockout mice showed enhanced re-epithelialization and faster wound closure compared to wild-type controls, suggesting Msx-2 may influence skin morphogenesis during wound repair.
10 citations
,
August 2023 in “The EMBO Journal” This study explored the epigenetic mechanisms of dermal fibroblast progenitor differentiation and found that the repressive chromatin profile from H3K27me3 prevents these progenitors from reforming skin in allograft assays, despite their multipotent potential.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that overexpression of β-catenin in bipotent Schwann-cell precursors promotes melanocyte development in limb areas by inducing MITF and repressing FoxD3, especially during a specific developmental timeframe.
24 citations
,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two new keratin-associated proteins, hKAP1.6 and hKAP1.7, in human hair follicles, contributing to understanding hair fiber differentiation.
16 citations
,
January 2019 in “Aging” This study found that transgenic mice expressing a mutant CYLD protein lacking deubiquitinase function showed signs of premature aging and spontaneous tumor development, likely due to over-activation of specific molecular pathways and chronic inflammation.
13 citations
,
November 2018 in “Animal Genetics” This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.