11 citations
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December 2014 in “The American journal of pathology” This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.
9 citations
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May 2002 in “PubMed” This study demonstrated that mice lacking skin-specific RXRalpha expression developed hair follicle degeneration and alopecia, indicating the importance of RXRalpha/VDR heterodimers in maintaining hair follicle homeostasis.
March 2026 in “Experimental Dermatology” This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
9 citations
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June 2023 in “Human Genomics” This study found that higher levels of AR expression are linked to a decreased risk of severe COVID-19 in females, and identified ACE2, MX1, and TMPRSS2 as important molecular markers for COVID-19 management.
5 citations
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September 2012 in “Journal of Investigative Dermatology” This study found that knocking down P-cadherin expression in cultured human hair follicles recreates the hair abnormalities seen in patients with hypotrichosis with juvenile macular dystrophy.
November 2024 in “Biochemical and Biophysical Research Communications” In this study, researchers observed that mutant mice with a genetic hair loss condition exhibited significant differential expression of genes related to keratinization and hair follicle formation, providing insights into potential strategies for understanding and treating alopecia.
2 citations
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April 2018 in “Journal of Investigative Dermatology” This case study in a renal transplant patient observed that eruptive KA-type SCCs exhibited aggressive behavior and genetic expression changes following intralesional chemotherapy, indicating potential caution against routine use of such treatments in similar cases.
This study observed that TBX3 mRNA expression levels were region-specific and correlated with pigmentation patterns in dun Mongolian horses, providing insights into the genetic mechanisms behind their distinctive Bider markings.
March 2024 in “Research Square (Research Square)” This study found that in sheep, the microRNA oar-miR-377 regulates hair follicle development by targeting the SLC24A2 gene, and identified a genetic variation associated with wool quality, suggesting potential markers for breeding.
4 citations
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November 2020 in “BMC Dermatology” This study identified 374 eQTLs in scalp hair follicles associated with genes involved in metabolic, mitotic, immune processes, and responses to steroid hormones, contributing insights into genetic variation and hair traits.
December 2024 in “Frontiers in Veterinary Science” This study on Dorper sheep identified important genetic factors influencing hair follicle development, finding that expression patterns and genes like DBI, FZD3, and ZDHHC21 play a crucial role in wool shedding, which could help improve understanding of mammalian skin-related traits and human hair advancement.
28 citations
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February 2012 in “PLoS ONE” In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.
13 citations
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October 2019 in “Journal of Integrative Agriculture” This study found that certain FZD3 gene variants were significantly associated with wool traits in Chinese Merino sheep, suggesting potential as genetic markers for breeding.
August 2024 in “Current Issues in Molecular Biology” In this study, researchers analyzed skin tissue from two sheep breeds during the growing period and identified 56 differentially expressed lncRNAs and 616 mRNAs linked to hair follicle development, suggesting potential targets for improving sheep wool quality through genetic and molecular approaches.
January 2022 in “Cellular and Molecular Biology” This study found that adding Triamcinolone to the local anesthetic solution and administering PRP sessions significantly improved hair transplantation outcomes, with gene expression indicating SRD5A2's role in transplant success.
June 2026 in “Frontiers in Cell and Developmental Biology” In this study, researchers used single-cell RNA sequencing to map the hair follicle microenvironment in fine-wool sheep, identifying specific cell types and gene expressions that influence wool fiber diameter, with dermal papilla cells playing a significant role in hair follicle development.
January 2019 in “Spectrum Research Repository (Concordia University)” This study observed that topiramate treatment in female zebrafish may impair genetic transmission to offspring, reducing expression of certain skeletal development-related genes in embryos.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This source describes alopecia as a hair loss condition often driven by genetic and androgenic factors, with lifestyle elements like chemical treatments exacerbating the issue; Ayurvedic texts caution against scalp toxins and suggest traditional formulations for support.
August 2025 in “Skin Research and Technology” This study discusses the potential of miR-200c-3p as a genetic marker and therapeutic tool for alopecia areata, but it highlights the need for additional methodological details and addresses discrepancies with previous findings on miRNA expression in hair-related processes.
28 citations
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December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study discusses the impact of alopecia on individuals' appearance and psychological well-being, highlighting how factors like genetics and lifestyle influence hair loss, and explores traditional Ayurvedic approaches for managing and promoting hair regrowth.
10 citations
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September 2016 in “Animal genetics” In this study, researchers identified a number of differentially expressed genes that may influence wool growth in Aohan fine wool sheep, offering insight into the genetic regulation of wool quality and yield.
2 citations
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April 2025 in “Frontiers in Genetics” This study investigated the genetic basis of coat color variation in cattle using skin transcriptome and whole-genome analyses, identifying the ASIP gene as a significant determinant that is differentially expressed and under strong positive selection in black and brown cattle breeds.
October 2025 in “Animals” This study explored the genetic regulation of goose feather follicle development, identifying miR-200a as a key regulator that inhibits GEDF proliferation through the Wnt pathway, potentially impacting goose down quality and supporting selective breeding strategies.
June 2023 in “Frontiers in Genetics” This study suggests that the curly hair phenotype in Mangalitza pigs may involve complex gene interactions related to calcium signaling and lipid metabolism, rather than changes in TRPM2 or CYP4F3 expression.
56 citations
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December 2011 in “Steroids” This review discusses the genetics and variable phenotypic expression of nonclassic congenital adrenal hyperplasia, and reports no new clinical results; the authors call for further research on long-term health impacts and treatment strategies.
25 citations
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August 2007 in “Molecular Therapy” This study found that using ectopic expression of CD24 is a promising approach for selecting genetically modified human epidermal stem cells for safe cutaneous gene therapy in cancer-prone conditions.
This study identified 19 genetic risk loci and 16 potential causal genes related to PCOS, highlighting the role of immune cell-specific mechanisms in its pathogenesis.
April 2018 in “Journal of Investigative Dermatology” The study found that, unlike in actinic keratosis and squamous cell carcinoma, basal cell carcinoma tissues showed higher expression of nidogen1 and Col4 in both basement membranes and surrounding stroma compared to normal skin.
May 2014 in “Journal of Investigative Dermatology” This article reviews recent imaging and genetic tool advances that enable in vivo study of hair regeneration and assessment of skin parameters, but it reports no new clinical results.