3 citations
,
June 2020 in “Developmental Cell” This study observed that in chicken skin, large-scale differences in gene expression between feathered and scaly skin are controlled by enhancer-driven uniform expression, while small-scale differences within individual feathers are associated with chromatin looping.
February 2026 in “ACS Biomaterials Science & Engineering” In this study, researchers successfully generated hair follicle organoids using human induced pluripotent stem cells (hiPSCs) with collagen I as a microenvironment, demonstrating potential applications in hair regeneration, though fully human organoids require additional approaches.
This study utilized polarized light microscopy to examine hair shafts in ten children with rare genetic disorders, such as Netherton syndrome and ectodermal dysplasia, providing valuable diagnostic insights into hair thickness, composition, and structural irregularities associated with these conditions.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
19 citations
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April 2015 in “International Journal of Molecular Sciences” This study identified distinct gene expression patterns in wool follicle bulbs that may play important roles in wool follicle cycling and regeneration in sheep.
48 citations
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January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified chemokine receptor ligands cxcl10 and cxcl11 as new hair-specific transcriptional targets of the Eda pathway, suggesting chemokine signaling plays a role in primary hair follicle patterning.
June 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology” This case report of an infant with AEC syndrome highlights the importance of early and aggressive management of ocular complications to preserve vision and reduce the risk of amblyopia.
April 2020 in “Journal of the Endocrine Society” This case report details a post-menopausal woman with hirsutism and virilization due to rare Leydig cell tumors in both ovaries, underscoring the challenge of detecting such tumors with standard imaging.
694 citations
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April 2000 in “Nature genetics” This study found that Msx2-deficient mice exhibit skull and bone formation defects similar to those seen in human MSX2-related conditions, highlighting the gene's importance in skeletal and organ development.
29 citations
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February 2001 in “Proceedings of the National Academy of Sciences” This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.
36 citations
,
March 2014 in “Cell death and differentiation” This study indicated that abnormal Bmp signaling in β-catenin gain-of-function mutants is associated with anorectal malformations, shedding light on potential mechanisms underlying these congenital conditions.
January 2024 in “Biomedicines” This review discussed the cutaneous manifestations of APECED, highlighting chronic mucocutaneous candidiasis, alopecia areata, and vitiligo, while emphasizing the importance of early detection and monitoring for accurate diagnosis and patient care in various populations.
May 2026 in “Nature Communications” This study observed that the loss of H3K9me3, via the ablation of Suv39h1, Suv39h2, and Setdb1 in embryonic mouse epidermis, disrupts skin development processes such as keratinocyte differentiation and hair follicle formation, highlighting H3K9me3's crucial role in epidermal morphogenesis.
22 citations
,
June 2020 in “iScience” This study found that disrupting Sox21 in developing teeth leads to severe enamel hypoplasia, regional osteoporosis, and abnormal hair formation, with impaired dental epithelial differentiation and regulation of hair follicle cell fate.
3 citations
,
November 2022 in “International journal of molecular sciences” This study reported that bio-pulsed avian-derived mesenchymal stem cell extracellular vesicles significantly improved cell proliferation, wound healing, and gene expression in human skin fibroblasts and hair follicle cells.
9 citations
,
June 2016 in “Stem cells” In this study, overexpression of secretory phospholipase A2 Group-IIA in transgenic mice led to depletion of hair follicle stem cells and increased differentiation, linked to changes in histone modifications.
March 2026 in “Cell Death Discovery” In this comprehensive review, researchers examine the p63 gene's crucial role in skin development and pathology, highlighting its regulation of cell processes and its potential therapeutic implications for disorders like ectodermal dysplasia.
1 citations
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June 2023 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study found that deleting the vitamin D receptor from specific stem cells in mouse hair follicles disrupts their ability to regenerate the epidermis after injury, suggesting an essential interaction with the transcription factor p63.
4 citations
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September 2004 in “Experimental Dermatology” This review discusses the role of connexin mutations in various human disorders, highlighting their impact on ectodermal epithelial phenotypes like hearing loss and skin abnormalities, but it presents no new clinical findings.
33 citations
,
October 2013 in “PloS one” This study found that human sweat glands contain unique stem cells with significant multilineage differentiation potential and self-renewal abilities, suggesting promising clinical applications due to easy biopsy access.
9 citations
,
March 2022 in “Military Medical Research” This study developed a method to convert fibroblasts into sweat gland-like cells, suggesting potential for regenerating damaged skin and restoring sweat gland function.
1 citations
,
November 2025 in “Aging Cell” This review discusses the role of the ectodysplasin A2 receptor as a biomarker and driver of ageing related to inflammation, and its potential therapeutic implications, but reports no new clinical findings.
1 citations
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December 2023 This study explored the complex developmental processes of human hair, emphasizing the intricate interactions required for hair follicle morphogenesis and its implications for drug incorporation and concentration interpretation, particularly in early childhood.
26 citations
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July 2019 in “Dermatology and Therapy” This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.
3 citations
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June 2018 in “Internal Medicine” In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.
10 citations
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June 2022 in “Development” This study suggests that distinct chromatin topologies allow different lineage-specific enhancers to regulate Hoxd genes in mouse vibrissae and chicken feather primordia, while conserved regulatory elements maintain transcriptional robustness in the embryonic trunk across species.
39 citations
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March 2022 in “Nature Protocols” This study describes a protocol for generating hair-bearing skin organoids from human pluripotent stem cells, achieving full complexity resembling fetal skin tissue by day 130 in vitro.
6 citations
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October 2022 in “Frontiers in Physiology” This review discusses the roles of store-operated Ca 2+ entry proteins in skin cell function and their links to various skin diseases, but it reports no new results.
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.
73 citations
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March 2010 in “Food and Chemical Toxicology” This study found that Zizyphus jujuba essential oil enhanced hair growth in mice, with the 1% and 10% concentrations showing increased hair length compared to control.