November 2020 in “International journal of contemporary pediatrics” This study reports two siblings with severe combined immunodeficiency due to a mutation in the FOXN1 gene, characterized by T-cell immunodeficiency, alopecia totalis, and nail dystrophy.
79 citations
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August 1998 in “The Journal of Cell Biology” In a transgenic mouse model, this study found that overexpression of keratin 16 in skin keratinocytes led to hyperkeratosis and increased EGF receptor signaling, altering skin cell behavior and structure.
October 2022 in “British Journal of Dermatology” 99 citations
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March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
28 citations
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November 2018 in “Journal of cellular physiology” This study found that miR-124 may facilitate the differentiation of hair follicle stem cells into neuronal cells by targeting Sox9 and Ptbp1.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.
May 2026 in “Journal of Investigative Dermatology” In this study, genetic factors associated with hirsutism were identified, suggesting that both androgen-dependent and independent mechanisms may contribute to excessive hair growth in women.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
32 citations
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November 1998 in “Journal of Biological Chemistry” This study found that the unique functions of keratin 16 are likely determined by its tail domain, challenging the previous hypothesis about the role of the helix 1B subdomain.
15 citations
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June 2012 in “British Journal of Dermatology” This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.
March 2016 in “Benha Veterinary Medical Journal” This study investigated the gene Col19a1, finding its expression is specific to certain cells during hair follicle development in mice, suggesting its potential role in hair follicle morphogenesis.
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.
20 citations
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February 2016 in “American Journal of Pathology” This study indicates that the OVOL1-OVOL2 axis may play a significant role in hair follicle differentiation and growth, potentially serving as therapeutic targets for hair disorders like alopecia and in the tumorigenesis of pilomatricoma.
5 citations
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July 2014 in “Molecular Biology Reports” 22 citations
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January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that genetic ablation of Tet genes in mice led to changes in hair structure and keratin gene expression, indicating a role for Tet-mediated 5hmC DNA oxidation in hair follicle development and cycling.
41 citations
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October 2008 in “The American journal of pathology” This study found that reducing BMP signaling in mouse nipple epithelia, achieved through Noggin overexpression, can convert them into hairy skin with pilosebaceous units.
May 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that both Wnt/β-catenin and Hedgehog signaling pathways must be activated in wound fibroblasts to promote hair follicle neogenesis in mice, suggesting these pathways are crucial for regenerative healing strategies.
11 citations
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December 2018 in “Bone” This study found that a high-energy shock wave can increase osteogenic activities in human mesenchymal cells, offering insights into potential therapeutic targets for trauma-induced heterotopic ossification.
July 2025 in “Journal of Investigative Dermatology” Wnt and SHH pathways help form hair follicles by coordinating cell processes.
70 citations
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December 2004 in “Differentiation” This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
27 citations
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May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that skin organoids derived from iPSCs with an HS-associated NCSTN mutation showed defects in hair follicle stem cell differentiation and increased expression of inflammatory proteins related to hidradenitis suppurativa.
123 citations
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December 1997 in “Calcified Tissue International” This study concluded that higher androgen levels in males and specific skeletal sites may contribute to differences in skeletal morphology, with glucocorticoids, E2, and D3 enhancing androgen receptor expression and mitogenic action in human osteoblastic cells.
24 citations
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January 2023 in “Cancer Research” This study suggests that activating AMPK to phosphorylate ZDHHC13 may enhance MC1R function and reduce melanoma risk in individuals with red hair.
15 citations
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July 2015 in “Developmental Dynamics” This study highlights the role of Orai1 in ameloblast differentiation and maturation, showing that its down-regulation affects cell proliferation and enamel formation during tooth development.
This study found that FGF5 alternative spliceosomes inhibit dermal papilla cell proliferation and regulate hair follicle growth-related gene expression, impacting hair follicle development in rabbits.
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.
September 2017 in “Journal of Investigative Dermatology” This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.