January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
20 citations
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August 2017 in “PLoS ONE” This study identified and updated the annotation of 61 keratin genes in dogs and horses, improving the genome annotation in these species through RNA-seq data comparison.
17 citations
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August 2018 in “BMC Genomics” The researchers found that HOXC13 regulates different keratin proteins in a mixed manner, with certain SNPs impeding this regulation, while also demonstrating negative-feedback by HOXC13 and positive regulation by LEF1 and melatonin on the HOXC13 promoter.
17 citations
,
February 2015 in “Cell Death and Disease” This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.
December 2025 in “Frontiers in Medicine” This review details the global mutation patterns of genes associated with autosomal recessive woolly hair/hypotrichosis and highlights potential, yet unproven, treatments like minoxidil and regenerative therapies, reporting no new clinical results.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
September 2025 in “Animal Bioscience” This study found that triglyceride and energy metabolic pathways are crucial factors influencing wool fiber diameter in fine-wool Alpine Merino sheep, providing insights for enhancing wool quality.
May 2024 in “Frontiers in medicine” In this study, a 3-year-old Japanese child with autosomal recessive woolly hair was found to have a distinctive irregular and rough cuticle on the hair shaft, along with a homozygous pathogenic LIPH variant, suggesting a critical role for genetic analysis in understanding rare hair conditions.
February 2022 in “Research Square (Research Square)” This study identified candidate genes related to hair follicle development in Merino sheep, providing insights for improving sheep wool quality and potentially understanding human hair growth mechanisms.
April 2021 in “Journal of Investigative Dermatology” In this study, researchers observed that different ERK signal activation dynamics during hair follicle regeneration are linked to cell fate specification and are affected by distinct upstream signaling pathways.
April 2021 in “Journal of Investigative Dermatology” This study developed a transgenic mouse model to explore androgenetic alopecia, finding that inducible COX2 expression led to sebaceous gland changes and hair miniaturization, with reversible effects upon reducing COX2.
27 citations
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July 2013 in “Journal of Dermatological Science” The conclusion is that androgenetic alopecia and senescent alopecia have unique gene changes, suggesting different causes and potential treatments for these hair loss types.
21 citations
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April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
18 citations
,
August 2012 in “Journal of The American Academy of Dermatology” This report describes a case where a sex reassignment patient on estrogen therapy experienced complete hair regrowth on a previously fully alopecic scalp.
13 citations
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August 2020 in “Frontiers in Cell and Developmental Biology” This study found that Twist1 and Tcf4 synergistically regulate the hair follicle induction ability of dermal papilla cells by forming a complex with β-catenin, enhancing their biological properties.
11 citations
,
September 2019 in “Dermatologic Surgery” This study found that vascular endothelial growth factor may protect hair follicle stem cells from androgen-induced apoptosis in androgenic alopecia patients via the PI3K/Akt pathway.
11 citations
,
January 2015 in “Skin pharmacology and physiology” In this study, oral collagen peptides increased certain gene expressions related to epidermis development and the hair cycle in hairless mice skin, suggesting potential links to hair health.
6 citations
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September 2019 in “Archives of Dermatological Research” In this study, researchers identified 32 differentially expressed genes involved in androgenetic alopecia, with down-regulated genes associated with Wnt and TGF-beta signaling and up-regulated genes linked to oxidative stress pathways.
5 citations
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November 2008 in “Advances in Dermatology” This review discusses advancements in understanding hair cycle and inflammatory alopecias, proposing a standard classification and tiered treatment recommendations, but reports no clinical results.
4 citations
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December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
2 citations
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September 2022 in “Organoid” In this study, the researchers developed a new protocol using human-induced pluripotent stem cells to efficiently create skin hair follicle organoids, which may aid in optimizing hair follicle growth and exploring treatments for alopecia.
2 citations
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April 2018 in “Journal of Investigative Dermatology” This study suggests that frontal fibrosing alopecia is a highly inflammatory disease involving TH1 and JAK-STAT pathways, without reduced hair keratins, highlighting JAK-STAT signaling as a potential therapeutic target.
2 citations
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January 2011 in “Dental Medicine Research” This study suggests that Keratin 6hf may be a potential marker of oral squamous cell carcinoma and could play a role in its progression, though further research is needed to understand its function.
May 2026 in “Signal Transduction and Targeted Therapy” This study found that rete ridge morphogenesis in mammalian skin is directed by a BMP-dependent developmental program, which is evolutionarily distinct from other known pathways controlling the development of hair follicles, sweat glands, and fingerprint ridges.
This study used a mouse model to reveal that S100A4-positive cells, specifically fibroblasts and immune cells, play a crucial role in nipple development, essential for successful lactation, despite no issues with mammary morphology or milk production.
April 2019 in “Journal of Investigative Dermatology” In this study, engineered mice with a mutation similar to that in Olmsted syndrome showed progressive hair loss due to impaired inner root sheath keratinocyte differentiation and stem cell exhaustion.
April 2019 in “Journal of Investigative Dermatology” This study reported that gain-of-function mutations in TRPV3 lead to hair loss in mice by disrupting inner root sheath keratinocyte differentiation, ultimately causing follicular keratinocyte stem cell exhaustion and permanent follicle disruption.
May 2018 in “Cell stem cell” This study reports that myoepithelial cells in submucosal glands can act as reserve stem cells, regenerating surface airway epithelium after severe injury through a mechanism involving Sox9 and Wnt signaling.
April 2018 in “Journal of Investigative Dermatology” This study found that kaempferol increased the proliferation potential of basal epidermal cells in three-dimensional skin models by enhancing integrin expression and altering cell morphology.
April 2018 in “Journal of Investigative Dermatology” This study found that elevated STAT5 levels are linked to improved hair-inducing capabilities in human dermal papilla cells, and reducing STAT5 impairs hair follicle induction.