14 citations
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February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” This study found that the development of Merkel cell carcinoma from hair follicles in mice can be driven by in vivo reprogramming with ATOH1 and relies on p53 loss for progression.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
1 citations
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September 2019 in “Steroids” In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.
September 2025 in “Jurnal Penelitian Pendidikan IPA” In this study, researchers identified two significant genetic polymorphisms in the 3'-UTR of the HSP70 gene in Moa buffalo, which may play an important role in heat adaptation, providing insights for conservation and performance improvement in tropical climates.
August 2026 in “The FASEB Journal” This study identified two key epigenetic-related genes, HR and SMYD4, which may act as potential biomarkers in keloid disease, suggesting new therapeutic avenues for further research.
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.
April 2026 in “Communications Biology” In this study of Danioninae species, researchers reported that the presence of breeding tubercles on the pectoral fins is conserved in certain species and linked to local androgen conversion, with steroid 5-α-reductase playing a crucial role in their development.
37 citations
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January 1993 in “Journal of Investigative Dermatology” January 2015 in “OpenBU/Boston University Institutional Repository (Boston University)” This study reported that NRP2 expression in melanocytes and melanocyte stem cells is linked to migration inhibition and potentially melanoma progression, suggesting its role as a target for understanding melanoma and hair follicle biology.
3 citations
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November 2021 in “Journal of Clinical Laboratory Analysis” This study identified hsa_circ_0001079 as a potential diagnostic marker for androgenetic alopecia, suggesting it may play a role in the condition by interacting with specific microRNAs.
November 2025 in “The Journal of Immunology” In this study, researchers observed elevated levels of epidermal γδ T cells, keratinocytes, and an upregulation of the BST2 gene among immune cells in C3H/HeJ mice with alopecia areata, suggesting a potential role in disease pathogenesis.
March 2013 in “Pigment Cell & Melanoma Research” This study revealed that different coat patterns in cats and cheetahs are related to variations in the aminopeptidase Q gene and endothelin-3 expression, which affects pigment production.
165 citations
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January 2006 in “Molecular Medicine” This review highlights the role of matriptase in epithelial differentiation and cancer, noting that unregulated matriptase expression can enhance cancer progression in animal models, but reports no new experimental data.
124 citations
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September 1992 in “Endocrinology” This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.
October 2023 in “Journal of dermatological science” This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
September 2016 in “Journal of Dermatological Science” This study found that knockout mice lacking SMS1 showed reduced body weight and hair loss, indicating a role for SMS1 in normal growth and hair health.
June 2026 in “Frontiers in Cell and Developmental Biology” This review synthesizes the diverse roles of the transcription factor LHX2 in development, tissue maintenance, and injury repair across various organ systems, highlighting its potential therapeutic applications and significance in regenerative medicine, particularly in developmental disorders and tissue regeneration.
67 citations
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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.
52 citations
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February 2012 in “PloS one” This study found that the absence of Ctip2 in epidermal keratinocytes led to impaired wound healing in mice, affecting cell migration, proliferation, and hair follicle stem cell maintenance.
29 citations
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December 2004 in “Developmental biology” In this study, forced expression of the transcription factor cDermo-1 in chicken dermis led to the formation of ectopic feather buds and enhanced feather growth, demonstrating its role in initiating skin appendage development.
1 citations
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April 2012 in “Cancer Research” This study found that overexpression of antizyme in MEK-activated transgenic mice reduced skin tumor development and restored normal differentiation of keratinocyte progenitor cells, highlighting the role of polyamines in keratinocyte biology.
1 citations
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March 2019 in “Chinese Medical Journal” This study identified a small population of PAX3+/CD34+ cells in human foreskin tissue that may serve as transition cells between melanocyte stem cells and hair follicle stem cells, characterized by specific marker expressions.
February 2017 in “Cancer Causes & Control” In this study, Swedish men carrying the AR haplotype H2 were found to have a significantly lower risk of prostate cancer compared to those with the more common H1 variant.
6 citations
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May 1997 in “Journal of Dermatological Science” This study found that a gene from hamster flank organs is indirectly regulated by androgens, despite lacking direct androgen responsive elements, indicating involvement of androgen-dependent transcription factors.
23 citations
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June 1992 in “PubMed” This study found that RAR-gamma 1 mRNA is present in multiple skin layers and structures, suggesting a role in maintaining and differentiating normal epidermis and skin appendages.
July 2016 in “Journal of Investigative Dermatology” R-spondin2 may help treat hair loss, gene differences could explain baldness, a peptide's regulation is linked to psoriasis, B-defensin gene copies may affect a skin condition's risk and severity, and potential markers and targets for alopecia areata were identified.
23 citations
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January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
89 citations
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May 2005 in “Stem Cells” This study found that keratinocyte stem cells in mouse skin are closely related to side population or BCRP1-positive cells based on their localization and marker expression.
This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.
8 citations
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January 2017 in “Journal of Biological Chemistry” This study found that astrotactin-2 undergoes unique intramembrane proteolysis during maturation, revealing specific transmembrane topologies and substrate sequence requirements for cleavage.