293 citations
,
November 2011 in “Nature” This study found that the circadian clock regulates the activation state of murine epidermal stem cells, affecting tissue homeostasis and susceptibility to tumorigenesis when disrupted.
16 citations
,
September 2006 in “The Journal of Immunology” This study identified that mouse MILL1 and MILL2 are glycoproteins distinct from human MICA/B, primarily due to their association with β2-microglobulin and TAP-independent surface expression.
13 citations
,
February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
22 citations
,
September 2011 in “Journal of Investigative Dermatology” This study found that impaired TCF/Lef1 signaling in mice leads to significant skin barrier defects due to altered lipid metabolism and epidermal differentiation.
June 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that MAPK/ERK signaling plays a key role in driving tissue regeneration in spiny mice and suggests potential for reversing fibrosis to promote regeneration in mammals.
7 citations
,
January 2023 in “Frontiers in cell and developmental biology” This study found that Celsr1, not Celsr2, is the primary protein involved in establishing planar cell polarity and hair follicle polarization in the epidermis of mice.
7 citations
,
October 2018 in “BMC genomics” This study reveals that β-catenin and retinoic acid are key regulators in the gene networks controlling the fate of skin appendages, such as scales and feathers.
18 citations
,
February 2022 in “Cell Death Discovery” In this study, researchers found that hair follicle-derived mesenchymal stem cells, modified to overexpress extracellular matrix protein 1, significantly improved liver function and reduced liver damage in cirrhotic mice by inhibiting hepatic stellate cell activation and TGF-β/Smad signaling.
84 citations
,
September 2008 in “Developmental biology” This study found that cellular retinoic acid-binding proteins and fatty acid-binding proteins are dynamically expressed in skin development and respond differently to retinoic acid, β-catenin, and Notch signaling.
12 citations
,
August 2015 in “Experimental Dermatology” This study indicated that the mineralocorticoid receptor (MR) plays a transient role in regulating epidermal differentiation during late embryonic stages, with glucocorticoid receptor (GR) potentially compensating for MR loss during the perinatal period.
December 2005 in “Science s STKE” This study reports that localized Rho GTPase activity and ROS production play a critical role in polarized growth and movement in both migrating endothelial cells and developing plant root hairs.
April 2013 in “Developmental Cell” This study found that the chromatin remodeler Brg1 plays a crucial role in hair follicle maintenance and epidermal repair by regulating the Shh signaling pathway and forming a positive feedback loop.
10 citations
,
August 1998 in “Journal of Investigative Dermatology” 101 citations
,
October 2007 in “Journal of Biological Chemistry” This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.
10 citations
,
September 1997 in “Molecular carcinogenesis” This study found that mirex and TPA promote papilloma formation in CD-1 mouse skin through distinct populations of mutant Ha-ras cells, resulting in additive tumor yields.
April 2020 in “The FASEB Journal” This study found that Rap1 deficiency in mice may lead to telomere shortening, DNA damage, and impaired mitochondrial function, contributing to cardiac aging and dysfunction.
1 citations
,
January 2016 in “Journal of Biosciences and Medicines” This study found that the ACTH/MC2R system is important for hair cycle regulation, with deficiencies in MC2R leading to altered hair growth phases in mice.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
79 citations
,
June 1991 in “Journal of Medical Genetics” This article discusses the classification of mental retardation based on IQ ranges and provides no new experimental findings.
4 citations
,
October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
1 citations
,
July 2023 in “Communications biology” In this study, researchers found that deleting Med1, a key epigenetic regulator in dental epithelia, led to hair growth on mouse incisors by altering enhancer landscapes and causing a switch from dental to hair lineage transcription programs.
9 citations
,
January 2015 in “Medical hypotheses” This report suggests that TCDD may alter human epidermal stem cell populations by upregulating c-Myc, potentially leading to increased stem cell turnover during chloracne development.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” This study found that Polycomb Repressive Complex 1 is crucial for maintaining stem cell identity across different lineages, but its loss results in varied transcriptional outcomes depending on the tissue context.
70 citations
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December 2008 in “Cancer Research” This study found that activating CXCR2 on ras-transformed keratinocytes promotes migration and tumor development in a mouse skin model.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
17 citations
,
June 2018 in “Frontiers in Physiology” This study found that acellular dermal matrix scaffolds may facilitate full-thickness skin wound healing by promoting a pro-regenerative immune response through M2 macrophage polarization via the Lamtor1 pathway.
17 citations
,
September 2018 in “Matrix Biology” The researchers reported that mouse keratinocyte-specific deletion of laminin γ1 led to delayed coat pigmentation due to impaired melanocyte migration and differentiation, linked to altered laminin composition in the basement membrane.