July 2026 in “Nature Communications” In this study, researchers used patient-derived organoids to model metastasis in colorectal cancer and discovered that cancer cells temporarily switch to a wound-healing program, orchestrated by reduced EZH2 activity and YAP signaling, before spreading to new organs.
21 citations
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January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
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.
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.
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.
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 “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.
50 citations
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April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
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.
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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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.
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.
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.
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.
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 “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.
This case study describes a young girl with sparse, brittle scalp hair and multiple keratotic papules, but no systemic or familial abnormalities were found.
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.
April 2018 in “Journal of Investigative Dermatology” This study found that treating human dermal fibroblast cells with ginsenoside Rd increased the expression of mRNA associated with the dermal-epidermal junction, suggesting potential as an anti-aging cosmetic ingredient.
April 2018 in “Journal of Investigative Dermatology” This study found that TGFbeta is a key pathway causing age-related loss of dermal fat's antimicrobial function, suggesting that targeting TGFBR might help restore skin defense against infections in older age.
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.
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
36 citations
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August 2018 in “Dermatologic Clinics” This article reviews various hair abnormalities observable through trichoscopy in conditions like monilethrix, trichorrhexis nodosa, and ectodermal dysplasias, with no new clinical findings reported.
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.