67 citations
,
August 2007 in “American Journal of Pathology” This study found that overexpression of the mineralocorticoid receptor in a mouse model led to premature epidermal barrier development, keratinocyte apoptosis, and postnatal alopecia, indicating new roles for MR signaling in skin physiology.
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.
5 citations
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June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.
April 2016 in “Journal of Investigative Dermatology” This study found that in mutant NRAS melanoma, MEK inhibitors led to increased AKT signaling and reduced MIG6, a change that may enhance cell migration and invasiveness.
4 citations
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November 2024 in “Journal of Advanced Research” In this study, the researchers reported that NMMHC IIA dissociates from PAR1 and activates the CREB3/ARF4 pathway, worsening thrombin-induced blood-brain barrier damage, suggesting it as a potential therapeutic target for blood-brain barrier-related diseases.
76 citations
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June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
3 citations
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
January 2024 in “Archives of Endocrinology and Metabolism” In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
17 citations
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August 2015 in “Journal of Animal Science” In this study, researchers found that specific SNPs in the MTR gene are significantly associated with wool production and quality traits in Chinese Merino sheep, suggesting the gene's potential for sheep breeding.
1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
8 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports that the near-naked hairless mutation in mice is not an allele of the Hairless gene but may involve a mutation in a linked gene or a regulatory mutation.
3 citations
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April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
July 2023 in “Frontiers in Veterinary Science” This study found that exogenous melatonin binds to the nuclear receptor RORα in Inner Mongolia cashmere goats, stimulating secondary hair follicle development and promoting villus growth.
3 citations
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December 2024 in “Journal of Animal Science” In this study, researchers identified the lncRNA MSTRG.14227.1 in cashmere goats and found it inhibits the morphogenesis of secondary hair follicles by interacting with the chi-miR-433/ADAMTS3 signaling axis, affecting cashmere yield and quality.
1 citations
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July 2023 in “Nature communications” This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
19 citations
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May 2001 in “Endocrinology” This study suggests that Mrp3 may play a role in both wound healing and the hair follicle cycle as a growth factor and/or angiogenesis factor.
9 citations
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April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
December 2013 in “Appetite” This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.
4 citations
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August 2013 in “Chinese Medical Journal” This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.
June 2025 in “Albus Scientia” This review discusses the role of the MC1R gene in human pigmentation and its genetic variants, reporting no new results; the authors highlight its forensic applications for phenotypic prediction.
75 citations
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June 2007 in “Journal of Biological Chemistry” This study found that the combination of MT-DADMe-ImmA and MTA selectively induced apoptosis in head and neck squamous cell carcinoma cell lines FaDu and Cal27, but not in normal fibroblasts or MTAP-deficient breast cancer cells.
January 2022 in “Figshare” This study found that knocking down lncRNA MTC in Liaoning Cashmere goat skin fibroblasts reduced cell proliferation and altered protein expression, suggesting its role in hair growth and regulatory pathways.
1 citations
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July 2025 in “Journal of Investigative Dermatology” Increasing m6A levels can improve skin cell growth and wound healing.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
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.
10 citations
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June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
12 citations
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September 2024 in “Frontiers in Immunology” This study found that metabolism-related genes significantly impact the prognosis and metastasis in breast cancer, and the development of prediction models may guide personalized therapeutic strategies.