January 2017 in “Journal of Chemical Biological and Physical Sciences” This study found that human hair keratin genes contain a few simple sequence repeats, with one repeat in the exon of KRT31 and additional repeats in introns, varying in length compared to their orthologues.
September 2022 in “Research Square (Research Square)” This study found that a specific gene mutation was identified in a family with monilethrix, and treatment with 5% minoxidil liniment improved hair quality in the proband without adverse events.
October 2023 in “International Journal of Cosmetic Science” In this study, researchers developed WS Biotin, a new water-soluble form of biotin, and found that it significantly improves water solubility compared to free biotin and enhances hair-related keratin expression, gene activity for hair growth in vitro, while also reducing melanin content in skin cells.
5 citations
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June 2014 in “Der Hautarzt” This review discusses genetic causes and classification of rare, monogenic forms of alopecia and highlights the role of molecular genetic research in understanding hair loss mechanisms but reports no new clinical results.
This animal study found that YH0618 may alleviate doxorubicin-induced alopecia and affects proteins like keratin and Smad3, suggesting potential therapeutic targets. The researchers analyzed protein expression changes to understand YH0618's effects in treating chemotherapy-related hair loss.
35 citations
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May 2011 in “Experimental Dermatology” This study found that hair follicles undergo significant molecular changes with age, notably a decline in keratins and keratin-associated proteins, which may contribute to age-related hair alterations.
This study suggests that specific genetic changes, including mutations in protein-coding genes and noncoding regions, have contributed to the evolution of hairlessness in multiple mammalian species.
10 citations
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July 2013 in “British Journal of Dermatology” High MUC-18/MCAM levels in blood indicate a worse outlook for melanoma patients.
37 citations
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May 2016 in “JAAD case reports” This abstract describes monilethrix, an autosomal dominant genodermatosis with symptoms like hair fragility and keratosis pilaris, and does not report new experimental results.
5 citations
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January 2017 in “Dermatologic Surgery” This study observed that storing hair follicle micrografts significantly decreased the expression of certain key genes in the dermal papilla, potentially affecting hair follicle cycling during preparation and storage.
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.
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.
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.
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.
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.
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.
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” 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.