65 citations
,
March 2017 in “Experimental Dermatology” This review discusses the genetic and biological factors influencing hair curliness, revealing strong links to specific protein variations, and reports no new clinical results.
26 citations
,
August 2014 in “Veterinary Dermatology” This study found that sphynx cats exhibit hair follicle dysplasia with abnormal hair shaft production, but without a reduction in the number of follicles, similar to murine KRT 71 mutants.
17 citations
,
February 2015 in “Experimental Dermatology” This report expands the known genetic mutations linked to monilethrix by identifying new patients with KRT83 mutations, confirming its role as a causative gene for this hair disorder.
5 citations
,
May 2024 in “BMC Genomics” This study analyzed the transcriptome of the Tianzhu white yak, identifying differential transcripts that shed light on the molecular mechanisms influencing hair length growth variation in this species.
3 citations
,
March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)” This study in hairless rats suggests that the deletion of specific hair keratin genes contributes to hypotrichosis and highlights the strain's potential as a model for hair follicle research.
Among Super Merino and Small-Tailed Han sheep, this study identified differentially expressed long non-coding RNAs and mRNAs linked to hair follicle growth and fiber traits, suggesting their potential roles in regulating these important wool characteristics through RNA sequencing and gene enrichment analyses.
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
,
July 2013 in “British Journal of Dermatology” High MUC-18/MCAM levels in blood indicate a worse outlook for melanoma patients.
9 citations
,
February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
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.
27 citations
,
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.
20 citations
,
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
,
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.
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.
August 2024 in “Journal of Animal Science and Technology” This study identified specific keratin-associated protein genes that are highly expressed in different varieties and sexes of Angora goats, providing insights for improving mohair development through targeted breeding strategies.
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.
829 citations
,
May 2007 in “Nature” Hair follicles can regrow in wounded adult mouse skin using a process like embryo development.
60 citations
,
November 2013 in “Development” This study found that the creation of hair follicle lumens in mice is driven by the outward migration of keratin 79-positive cells, suggesting a novel mechanism for generating hollow cores in hair follicles.
50 citations
,
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
,
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.
9 citations
,
January 2015 in “Current problems in dermatology” This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.
6 citations
,
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
,
October 2020 in “Experimental dermatology” This study reports that during late embryogenesis and early postnatal development, K79-expressing keratinocytes change and die independently of sebaceous glands to form the hair follicle opening, potentially influencing conditions like ingrown hairs or acne.
2 citations
,
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
,
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.
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.