15 citations
,
January 1993 in “DNA sequence” This study sequenced a related gene to KRT2.9 called KRT2.13, which encodes a type II keratin protein not expressed in the hair follicle, and found significant sequence homology suggesting possible gene conversion or conservation of functional sequences.
2 citations
,
October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
20 citations
,
September 2021 in “Nature communications” In this study, researchers identified a gene expression pre-pattern and implicated the Wnt inhibitor Dickkopf 4 in the formation of color patterns in domestic cat embryos.
29 citations
,
July 2014 in “PLoS ONE” This study suggests that inactivation of β-catenin is necessary for chick retina regeneration, as it allows cells to enter the cell cycle during injury and promotes regeneration without needing FGF2.
99 citations
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September 2004 in “Development” This study suggests that deregulation of sonic and desert hedgehog signaling in mouse skin can lead to altered epidermal stem cell activity and lesions similar to human basal cell carcinoma, indicating these cancers may originate outside the stem cell population.
58 citations
,
February 2016 in “Scientific reports” This study found that dual inhibition of BACE1 and BACE2 in mice affects melanosome maturation and causes dose-dependent hair depigmentation without altering retinal morphology.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
April 2018 in “Journal of Investigative Dermatology” This study found that the loss of transcription factor Ovol2 in epidermal and hair follicle stem cells leads to migration defects, which are partially improved by deleting the EMT-inducing Zeb1.
2 citations
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August 2023 in “Experimental Dermatology” In this study, researchers discovered that HEY2+ dermal papilla cells exhibit stemness and contribute to dermal regeneration during wound healing, as shown by the expression of a reporter gene in regenerated dermal cells of tamoxifen-induced transgenic mice.
17 citations
,
August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
9 citations
,
January 2021 in “International Journal of Medical Sciences” This study found that Sox10 may play a role in early hair follicle development and cycling, as it is expressed in specific regions of the hair follicle during different phases of the hair cycle in mice.
37 citations
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November 2007 in “Journal of Biological Chemistry” This study found that increased intracellular expression of thymosin β4 is necessary and sufficient to induce PAI-1 gene expression in endothelial cells, potentially mediated through Ku80 as a novel receptor.
This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.
14 citations
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February 2008 in “Stem Cells and Development” This study identified several genes highly expressed in germ-line stem cells that are also common in hematopoietic stem cells, potentially aiding the exploration of fundamental stem cell commonalities.
May 2022 in “Research Square (Research Square)” This study found that nestin-expressing unipotent progenitor cells capable of differentiating into outer root sheath keratinocytes are present during hair follicle development and in adult hair follicles.
1 citations
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October 2025 in “PLoS ONE” In this study, researchers found that overexpression of LncRNA RP11-818O24.3 in hair follicle stem cells promotes their proliferation, self-renewal, and differentiation while inhibiting apoptosis through the FGF2-mediated PI3K/AKT signaling pathway, suggesting potential therapeutic applications for hair loss treatment.
19 citations
,
December 2016 in “PLOS ONE” This study found that proteins secreted by early-passage dermal papilla cells, including SDF1, MMP3, biglycan, and LTBP1, may play significant roles in hair follicle regeneration.
75 citations
,
October 1999 in “Differentiation” This study suggests that mouse keratin 6 isoforms, K6a and K6b, have overlapping but distinct expression profiles, differing notably in their expression in suprabasal cells and response to phorbol esters.
4 citations
,
July 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that BLMP-1 is important for timely molting and oscillatory gene expression in C. elegans, indicating a potentially conserved mechanism for rhythmic skin regeneration.
58 citations
,
November 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mutations in the Foxn1 gene in nude mice affect not only hair but also nail structure and differentiation, offering insights into nail hypergranulosis pathogenesis relevant to human nail diseases.
3 citations
,
January 2005 in “Photochemistry and Photobiology” This study found that overexpression of PKCɛ in mouse epidermis increased sensitivity to metastatic squamous cell carcinoma, suggesting that a PKCɛ-mediated microenvironment may promote cancer development through specific cytokines like TNFα.
80 citations
,
April 2011 in “Plant physiology” This study suggests that the GPX-PDE1 and GPX-PDE2 genes in white lupin enhance root hair development and contribute to Pi limitation acclimation by facilitating glycerophosphodiester degradation.
175 citations
,
August 1997 in “Nature Genetics” July 2021 in “British Journal of Dermatology” This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.
31 citations
,
June 2017 in “Regeneration” This study found that applying BMP2 stimulated limited regeneration of the amputated P2 bone in mice, but only when applied during a specific "regeneration window" after injury.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
24 citations
,
June 2015 in “Journal of Investigative Dermatology” This study observed that epidermal-specific deletion of aPKCλ in mice disrupts hair follicle stem cell quiescence, leading to altered hair follicle cycling and skin anomalies.
6 citations
,
January 2020 in “International Journal of Biological Sciences” This study found that lower expression of Septin4 is significantly associated with worse outcomes in colon cancer, and its interaction with BAX in DOX treatment suggests its potential in targeted therapy.
13 citations
,
July 2012 in “Pigment Cell & Melanoma Research” In this study, researchers identified a new dominant mutation in Hairless mice, called Pied, resulting from a deletion in the Adam10 gene, which causes freckle-like skin pigmentation by inhibiting melanocyte expansion.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.