90 citations
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July 1993 in “Journal of Investigative Dermatology” This article reviews the molecular characteristics of human hair keratins, noting their distinct classification from epidermal keratins and the variability in expression that may occur without noticeable hair changes, but reports no new study results.
68 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests a regulatory model where HOXC13 activates Foxn1, affecting hair and nail differentiation, supported by similarities in Hoxc13(tm1Mrc) and Foxn1(nu) mice phenotypes and gene expression patterns.
59 citations
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October 2020 in “Stem Cell Reviews and Reports” This review discusses potential mechanisms contributing to higher COVID-19 mortality among men, particularly the roles of smoking, genetic factors, and reproductive hormones, without presenting new clinical findings.
27 citations
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February 2023 in “Frontiers in Cell and Developmental Biology” This review discusses the expanded understanding of WNT10B's role in various tissues and diseases over the past decade, emphasizing its genetic correlations and potential therapeutic implications, but reports no new clinical results.
27 citations
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April 2004 in “Biochemical and Biophysical Research Communications” In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.
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.
12 citations
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September 2021 in “PLoS ONE” In this study, researchers found that interaction between transcription factor EBF1 and gene WNT10A, influenced by a genetic variant, may play a role in hair shaft formation and anagen shortening in male pattern baldness.
3 citations
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July 2015 in “International journal of pharmacology” In this study, Natural Plant Extracts (NPE) promoted hair growth in mice by stimulating anagen growth and upregulating relevant gene expression, compared to controls with saline.
2 citations
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January 2020 in “Skin Appendage Disorders” This report presents a case where multiple steatocystomas appeared in a psoriatic patient during ustekinumab treatment, suggesting the drug may unmask a genetic predisposition to steatocystoma multiplex.
2 citations
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August 2004 in “Veterinary Dermatology” This case study in an 8-month-old mixed-breed dog with symptoms and histopathological findings supports a diagnosis of hereditary junctional epidermolysis bullosa, although specific genetic mutations weren't identified.
1 citations
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January 2018 in “Journal of Society of Cosmetic Chemists of Japan” In this study involving Japanese women, researchers found that higher scalp oil levels were linked to weaker hair structure and increased scalp inflammation, suggesting that plant-derived compounds might mitigate these effects by reducing inflammation at the genetic level.
1 citations
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January 1992 in “DNA sequence” This study found that a cuticle keratin gene in sheep is a pseudogene due to gene duplication and mutations, lacking expression in vivo.
July 2026 in “Veterinary Sciences” This study explored the decline in cashmere production in Inner Mongolian cashmere goats through RNA-seq analysis, finding that AKT1 expression and related signaling pathways are age-dependent, with peak AKT1 upregulation at 12 months aligning with peak cashmere production.
In this study, the researchers analyzed skin samples from Dun Mongolian horses to uncover molecular pathways linked to the "Bider" marking, identifying differential gene expression and several pigment-related signaling pathways that may play key roles in its formation.
November 2025 in “Journal of Medicine and Health Technology” In this study, researchers found that none of the participants were color blind and reported varying lengths of index and ring fingers among them, exploring a possible link between these finger length ratios and sex-influenced gene expression.
July 2024 in “Journal of Investigative Dermatology” In this study of mouse models, researchers found that glutaminolysis is crucial for macrophages to switch from a pro-inflammatory to a pro-resolving state, aiding tissue repair by preventing prolonged inflammation and influencing gene expression.
September 2023 in “Medicina-lithuania” In this study, DNA analysis of patients with androgenetic alopecia and alopecia areata indicated potential differences in treatment response based on genetic makeup across Romanian and Brazilian populations, notably involving genes like GR-alpha and SULT1A1, which may guide personalized treatment strategies.
November 2022 in “Gigascience” This study identified a 582-bp deletion upstream of LHX2 in cashmere goats, likely linked to hair follicle development and cashmere production, providing insights into genetic factors in cashmere trait selection.
November 2022 in “Journal of Investigative Dermatology” This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.
March 2026 in “JID Innovations” In a mouse model study, researchers found that mutations in Aire reduced alopecia areata frequency, while Notch4 mutations did not lead to the disease, likely due to proximity with a resistance gene.
42 citations
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April 2009 in “Human Genetics” This study suggests that the AGA risk haplotype in Europeans was driven to high frequency by positive selection, likely associated with a variant in the EDA2R gene.
29 citations
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January 2021 in “G3 Genes Genomes Genetics” This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.
10 citations
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April 2022 in “Frontiers in Genetics” This study identified and analyzed 88 MYB genes in Curcuma wenyujin, finding that specific genes are significantly induced by cold, NaCl, and MeJA stress treatments, which suggests their role in stress response mechanisms.
4 citations
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October 2024 in “Experimental Dermatology” In this study, researchers identified 173 differentially expressed genes in alopecia areata patients linked to immune and hair follicle pathways, constructed a regulatory network involving mRNA, miRNA, and lncRNA, and highlighted CD8A and FOXD2-AS1 as potential diagnostic markers and therapeutic targets.
March 2024 in “Frontiers in genetics” This review discusses the insights gained from single-cell RNA sequencing of fibroblasts in various cancers and wound healing, highlighting differences in gene expression and novel interactions.
44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.
42 citations
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February 2016 in “Science” The document concludes that both internal stem cell factors and external influences like the environment and hormones affect hair loss and aging, with potential treatments focusing on these areas.
November 2025 in “PubMed” This study identified nine pathogenic variants in the PADI3 gene, and variants in the S100A3 and TCHH genes, which may disrupt protein function and contribute to central centrifugal cicatricial alopecia.
In this study with mice, simultaneous inactivation of Smad4 and PTEN genes led to rapid development of invasive forestomach squamous cell carcinomas, mirroring human esophageal SCCs.
In this study, the deletion of Smad4 and PTEN genes in mice was associated with rapid and invasive squamous cell carcinoma formation in the forestomach, modeling human esophageal cancer progression.