May 2023 in “Elsevier eBooks” This source outlines current research exploring CRISPR-Cas9, siRNA, miRNA, and tissue engineering as potential treatments for androgenetic alopecia, noting the need for further safety and efficacy studies before human application.
3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
7 citations
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December 2021 in “In Vivo” In this study, researchers found that hTERT/SV40 immortalization of human dermal fibroblasts up-regulates skin cell markers and highlights the SIRT1 and miR-93 pathways' roles in maintaining fibroblast proliferation, potentially benefiting developments in the cosmetic industry.
50 citations
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April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the deletion of Tet2/3 enzymes in mice led to changes in skin development and hair follicle differentiation, ultimately causing hair loss and altered gene expression.
52 citations
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June 1991 in “Journal of Virology” In this study, researchers found that the ability of hamster polyomavirus to cause lymphoid tumors in Syrian hamsters may be linked to its association with the tyrosine kinase p59fyn.
2 citations
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August 2021 in “Animal Cells and Systems” This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.
131 citations
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March 2004 in “The American journal of pathology” This study found that modulating BMP activity in transgenic mice affects the development and characteristics of several ectodermal organs, such as skin, hair, and claws, highlighting a stage-dependent influence on organogenesis.
January 2016 in “Methods in molecular biology” This study identified a population of GFP-expressing nestin-positive cells in transgenic mice hair follicles that varied in location during different hair cycle phases, suggesting a shared relationship with neural stem cells.
13 citations
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December 2005 in “Traffic” In this study, researchers found that syntaxin 9, a novel syntaxin family member, interacts specifically with the epidermal growth factor receptor and may influence its transport and signaling in some epithelial cells.
This review synthesizes current advances in transcriptomics and RNA regulatory networks, alongside stem cell-derived skin organoid research, to propose a conceptual framework for understanding and potentially guiding regenerative skin repair, without claiming clinical readiness.
57 citations
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July 2000 in “Toxicology Letters” This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrated that Tet2 and Tet3 enzymes are crucial for controlling gene expression related to hair differentiation in mice, suggesting DNA demethylation could be a new method for managing hair growth.
87 citations
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September 2019 in “Nature Communications” In this study, researchers identified that upon tissue injury in a mouse model, epidermal cells at the wound edge convert to an embryonic-like state with SOX11 and SOX4 playing a central role in modulating epidermal development and cell migration genes.
9 citations
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March 2017 in “Journal of Visualized Experiments” This study introduced a novel in vitro murine assay using transgenic mice to identify immunomodulatory compounds, which identified 160 potential hits from 4,398 compounds screened.
25 citations
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July 1994 in “Journal of Cell Science” This study found that polyomavirus large T-immortalized rat dermal papilla cells retain hair-inductive ability and provide a viable model for studying hair growth and cytokine expression.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.
57 citations
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January 1987 in “Journal of Biological Chemistry” This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
3 citations
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September 2023 in “Stem Cell Research & Therapy” In this study, researchers successfully generated functional and long-lived melanocytes from human embryonic stem cells, demonstrating their biocompatibility and high engraftability in mice, which may aid in developing treatments for pigmentary skin disorders.
March 2011 in “Pigment Cell & Melanoma Research” This study found that changes in the expression of the Agouti gene contribute to the pale pigmentation in beach mice, with implications for melanocyte development and localization.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
25 citations
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September 1995 in “Biochemistry and Cell Biology” This study found that high levels of human cytokeratin 16 expression in transgenic mice lead to skin lesions and altered keratinocyte structure, suggesting potential implications for human skin disorders and wound healing.
638 citations
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October 1997 in “Nature” This study found that dominant mutations in the mouse agouti gene lead to maturity-onset obesity, with weight increases starting around 4 weeks and peaking between 8 and 17 months.
71 citations
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January 2011 in “Journal of cutaneous pathology” This case report describes the first confirmed instance of trichodysplasia spinulosa in a child with Down syndrome and leukemia, linking it to the TS-associated polyomavirus.
March 1998 in “Journal of Dermatological Science” Keratin-associated proteins may have roles in various mouse tissues, not just hair.
101 citations
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September 2006 in “Journal of Biological Chemistry” This research quantified the fidelity of human mitochondrial DNA polymerase and found it averages 1 error in 440,000 nucleotides, impacting its function related to disease and mitochondrial health.
November 2022 in “Journal of Investigative Dermatology” This study found that dysregulation of the DNA damage response in stem cells is a common factor of aging, affecting tissues like the skin, brain, kidneys, and intestine.