May 2025 in “Experimental Dermatology” In this study, researchers developed a novel genetic tool using Wif1-CreER knock-in mice for precise labeling and manipulation of dermal papilla cells, which could enhance understanding of hair biology and aid in developing targeted therapies for hair-related disorders.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified distinct and diverse fibroblast populations in female scalp cells that lose their signature and identity with age, highlighting significant age-related changes, such as increased fibrosis, DNA damage, and senescence, which may affect scalp dermal support for healthy hair follicles.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study investigated the roles of long non-coding RNAs in mouse hair follicle stem cells, using sequencing to identify potential biomarkers and targets for treatments in both mice and humans.
84 citations
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April 2002 in “Archives of Dermatology” This study found that a keratin mutation may cause diffuse partial woolly hair associated with loose anagen hair syndrome in some families, but other genetic factors could play a role in different cases.
3 citations
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September 2023 in “Genes” This study analyzed the molecular evolution and functional divergence of the Dkk gene family, finding accelerated evolution in Aves and Reptilia and identifying functional differences that may impact hair follicle development via Wnt signaling inhibition.
October 2023 in “Cell & bioscience” This study identified a primitive coarse wool characteristic in Merino sheep that enhances environmental adaptability and fine wool yield without reducing quality, suggesting that epigenetic mechanisms, particularly involving the imprinted Gtl2-miRNAs locus, regulate this advantageous trait.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
85 citations
,
January 2018 in “Cell stem cell” This study found that synchronized signals in the microenvironment regulate stem cell lineage choices in hair follicles by influencing chromatin dynamics during regeneration.
10 citations
,
March 2021 in “Clinical Cosmetic and Investigational Dermatology” This study found that specific genetic variants in the CYP21A2 and CYP19A1 genes were associated with severe acne vulgaris among Han Chinese, particularly in male patients.
8 citations
,
February 2025 in “Cell Systems” This study developed a genetic toolbox to engineer Cutibacterium acnes for dermal applications, successfully creating a strain that secretes antioxidants to reduce oxidative stress in a UV stress model.
7 citations
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April 2013 in “Animal Production Science” This study found that manipulating maternal cortisol levels during pregnancy altered Merino sheep wool characteristics, increasing fibre length and reducing crimp frequency in the offspring.
3 citations
,
April 2025 in “Science Advances” This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.
2 citations
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January 2016 in “Sarcoma” This study found that using a recombinant adenoassociated virus to induce survivin expression protected normal tissues from radiation damage in mice, reducing side effects compared to controls.
1 citations
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April 2025 in “Animals” In this study, nucleotide sequence variation in the KRTAP13-3 gene was associated with changes in heterotypic hair fibre diameter variation in Chinese Tan sheep.
1 citations
,
October 2023 in “Heliyon” In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.
1 citations
,
January 2021 in “Processes” This study adapted a method for culturing melanocytes from human hair follicles to horses, successfully creating partially melanotic equine melanocytes, potentially advancing hair follicle biology research across species.
June 2020 in “Journal of Investigative Dermatology” This symposium reviewed advances in understanding complex skin diseases through genetics and genomics, emphasizing the role of regulatory signals and environmental components in disease development, but reports no new clinical findings.
3 citations
,
June 2020 in “Frontiers in Immunology” This mouse study found that offspring of parents with uveitis showed increased susceptibility to experimental autoimmune uveitis, potentially due to altered immune and cellular processes.
2 citations
,
May 2024 in “International Journal of Molecular Sciences” This study found that in a mouse model of psoriasis, depleting CD169+ macrophages led to milder symptoms and decreased inflammation, suggesting these macrophages play a crucial role in psoriasis development.
November 2025 in “Free Radical Biology and Medicine” This study identified ten potential therapeutic targets and biomarkers for androgenic alopecia, with SOD1 and KL as particularly promising candidates for future therapies.
May 2024 in “Cell proliferation” This study found that melatonin supplementation significantly promoted hair regeneration in a hair depilation mouse model by up-regulating the Wnt/β-catenin signaling pathway in dermal papillae and hair follicle stem cells, suggesting potential implications for human hair loss treatments.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
January 2017 in “Murdoch Research Repository (Murdoch University)” This study identified the novel genetic variant rs143321413 within the EEF2K gene, which may play a role in the development of polycystic ovary syndrome.
February 2021 in “Journal of Investigative Dermatology” This study found that specific junctional proteins are significantly downregulated in balding regions of the scalp in men with androgenetic alopecia, suggesting disrupted cell communication may play a role in hair loss.
21 citations
,
June 2016 in “Genesis” This study identified a gene expression signature in mouse embryonic dermal fibroblasts that depends on Wnt/β-catenin activity, potentially influencing dermal fibroblast identity and function.
18 citations
,
January 2018 in “Advances in experimental medicine and biology” This review discusses the evolutionary history of keratins and reports no new results, highlighting key events that contributed to the development of mammalian hair and integument.
16 citations
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September 2015 in “International Journal of Molecular Sciences” In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
16 citations
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January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” This case report presents the first genetically confirmed case of acrodermatitis enteropathica in Korea, identifying compound heterozygous mutations in the SLC39A4 gene in an 8-month-old boy.
14 citations
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May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.