January 2026 in “Cosmoderma” In this clinical case study, a 9-year-old girl was diagnosed with monilethrix, a hereditary hair shaft disorder characterized by weak, beaded hair, with management focusing on minimizing hair trauma.
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.
87 citations
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July 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that beard hair medulla cells express an unexpected range of keratins, showing variability and promiscuous behavior in keratin interactions distinct from other hair follicle cells.
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.
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.
17 citations
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November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
11 citations
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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.
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.
3 citations
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May 2024 in “Amino Acids” This review identifies cysteine's central role in hair growth and its potential impact on Alopecia Areata's pathogenesis, suggesting examination of cysteine metabolism might clarify the disease's underlying mechanisms and lead to new treatments.
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.
1 citations
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July 2018 in “CMAJ. Canadian Medical Association journal” This case report describes a three-year-old girl with a two-year history of hair loss who was previously treated with selenium sulfide shampoo, with no family history of alopecia.
1 citations
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February 2018 in “Australasian journal of dermatology” Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
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.
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.
August 2025 in “Dermatology and Therapy” This study conducted a meta-analysis of gene expression data from alopecia areata patients, identifying 5109 differentially expressed genes and highlighting enriched pathways like JAK-STAT signaling, providing insights into the disease's pathogenesis and potential treatment targets.
July 2025 in “Dermatology Practical & Conceptual” A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
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.
September 2023 in “Cutis” This study presents a case of a 6-month-old infant girl with hypotrichosis and an alopecic plaque in the occipital region, characterized by broken and dystrophic hairs with follicular papules and perifollicular hyperkeratosis, suggesting a diagnostic consideration.
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 “The journal of investigative dermatology/Journal of investigative dermatology” This study found that 6.1% of new patients seeking PRP therapy for hair loss had undiagnosed cicatricial alopecia, highlighting the importance of proper diagnosis by trained dermatologists to optimize treatment outcomes.
April 2021 in “Journal of Investigative Dermatology” This study explored the use of an AI-driven device, HairMetrix, to quantitatively assess the effects of PRP treatments on scalp health in two Caucasian women with androgenetic alopecia, reporting increases in average hair width and follicle count after one treatment.
This case study describes a young girl with sparse, brittle scalp hair and multiple keratotic papules, but no systemic or familial abnormalities were found.
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.