26 citations
,
October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
41 citations
,
December 1988 in “Journal of Investigative Dermatology”
July 2026 in “International Journal of Stem Cells” This review highlights that genetically engineered mouse models are valuable for studying melanoma development and progression by mimicking human skin biology, revealing key signaling pathways and molecular mechanisms that contribute to melanoma heterogeneity and offering insights into potential therapeutic targets.
35 citations
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April 1998 in “PubMed” This study found that activating the erbB-2 oncogene in transgenic mice led to severe skin abnormalities and fatal defects, indicating erbB-2's significant role in skin and hair follicle development.
3 citations
,
July 2022 in “Brain and Behavior” This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
48 citations
,
July 1988 in “PubMed” In this study, researchers observed that rhino mice exhibit significant ductal hyperkeratinization in the meibomian gland, which may represent the first naturally occurring disorder of this gland in mice.
January 2010 in “Acta Laboratorium Animalis Scientia Sinica” This research reports that the ultra-high sulfur keratin promoter acts as a tissue-specific promoter in mouse hair follicles, as shown by induced expression of GFP and β-gal in that region post-transfection.
2 citations
,
September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
4 citations
,
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.
101 citations
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August 2001 in “The Journal of Cell Biology” This study found that while most mice lacking MK6a and MK6b genes died from tongue epithelium disintegration, about 25% survived and showed no hair or nail defects due to a newly discovered MK6hf gene.
28 citations
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February 2010 in “Experimental Dermatology” This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.
30 citations
,
June 1993 in “The Journal of Cell Biology” This study found that transgenic mice expressing a mutant E1a oncoprotein in their skin had disturbed hair follicle maturation but did not show increased tumor development or proliferation.
8 citations
,
April 2016 in “Experimental dermatology” This study found that the immune-competent B6. Cg‐Tyr c−2J Hr hr /J congenic mouse line had a more pronounced delayed sunburn response and different proliferative skin reactions to UV exposure compared to SKH 1 mice.
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.
42 citations
,
March 2010 in “Endocrinology” This study reports the development of the first rodent model for androgenetic alopecia, demonstrating that overexpression of androgen receptors in mice delays hair regeneration and can be used to test new treatments.
50 citations
,
February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
May 2017 in “The journal of immunology/The Journal of immunology” This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.
7 citations
,
May 2005 in “Experimental Dermatology” This study reports that two mouse models of scarring alopecia exhibit similar patterns of hair loss progression despite histological differences in inflammatory cell localization and MHC class I expression.
68 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests a regulatory model where HOXC13 activates Foxn1, affecting hair and nail differentiation, supported by similarities in Hoxc13(tm1Mrc) and Foxn1(nu) mice phenotypes and gene expression patterns.
March 2026 in “JID Innovations” In a mouse model study, researchers found that mutations in Aire reduced alopecia areata frequency, while Notch4 mutations did not lead to the disease, likely due to proximity with a resistance gene.
December 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed that Patched receptors establish a Hedgehog signaling gradient in developing hair follicles, which may influence their formation and potentially offer a diagnostic tool for distinguishing Hedgehog-driven tumors.
93 citations
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May 1990 in “The EMBO Journal” Mice with extra sheep genes had hair that fell out and regrew in cycles.
22 citations
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December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.
1 citations
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August 2022 in “Pigment Cell & Melanoma Research” This study presents two new mouse models using the CreER T2-loxP system to target and study melanocytic cells, with implications for melanoma research.
December 2016 in “Experimental and Molecular Pathology” This study found that the wild-derived mouse strain Mus pahari has fragile skin that separates at subdermal levels under moderate force, potentially due to altered extracellular matrix development.
5 citations
,
June 2012 in “Journal of Investigative Dermatology” Harris et al. describe a new mouse model for vitiligo, where interfollicular melanocytes are retained and melanocyte-targeting immune responses are simulated, aiding the development of immunomodulatory therapies.
89 citations
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August 2013 in “PloS one” This study used the "ARE-Luc" mouse model to visualize androgen receptor activity across various tissues in both male and female mice, highlighting the direct action of androgens outside reproductive organs.
14 citations
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July 1994 in “Journal of Dermatological Science” In this study, transgenic mice expressing a mutant K6 gene developed progressive scarring alopecia and keratosis, suggesting they may model a new keratin disorder.