March 2006 in “The FASEB Journal” This study found that mice lacking the vitamin D receptor showed disrupted hair follicle cycling and balance between cell proliferation and differentiation, highlighting VDR's role in hair cycling regulation.
47 citations
,
January 2024 in “iScience” The researchers reported that stress-induced keratins in human skin are expressed at lower levels than those in healthy skin and are co-regulated with genes involved in differentiation, inflammation, and immunity, rather than replacing keratins of normal differentiation or indicating cell proliferation.
5 citations
,
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.
15 citations
,
January 1993 in “DNA sequence” This study sequenced a related gene to KRT2.9 called KRT2.13, which encodes a type II keratin protein not expressed in the hair follicle, and found significant sequence homology suggesting possible gene conversion or conservation of functional sequences.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” This study found that certain gene polymorphisms in keratin 27 and ELOVL4 are linked to improved cashmere fineness and production traits in Liaoning cashmere goats.
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.
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.
30 citations
,
June 2022 in “Animals” This study found that certain genes were significantly associated with hair length in Inner Mongolia cashmere goats, potentially serving as molecular markers for different hair types.
8 citations
,
December 2022 in “BMC Genomics” This study revealed gene expression patterns in yak hair follicles during different growth phases, enhancing the understanding of cell fate specialization and providing insights for yak villus development.
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.
February 2020 in “Definitions” This article discusses the human KRT72 wild-type allele's role in hair formation and reports no new research findings.
37 citations
,
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.
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.
17 citations
,
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.
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.
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.
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.
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.
17 citations
,
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
,
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.
9 citations
,
January 2017 in “Annals of Dermatology” In this study of a TRPS type I patient, many genes related to keratin and hair development were down-regulated in balding scalp areas, providing new insights into TRPS and hair morphogenesis.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.
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.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
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.