May 2025 in “Frontiers in Veterinary Science” This study investigated the genetic factors influencing cashmere quality differences between Jiangnan cashmere goats and Changthangi pashmina goats, identifying 4,942 differentially expressed genes and highlighting 24 key genes related to hair follicle development and cashmere fiber formation.
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.
2 citations
,
April 2008 in “PubMed” This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
6 citations
,
March 1996 in “Journal of Investigative Dermatology”
6 citations
,
May 2022 in “Frontiers in physiology” This study suggests that an in ovo injection of CHIR-99021 promoted feather growth and follicle development in goose embryos by activating the Wnt signaling pathway.
1 citations
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October 2020 in “Research Square (Research Square)” This study identified a 505-bp indel variant in the FGF5 gene associated with cashmere growth in goats, which may serve as a molecular marker in cashmere goat breeding programs.
1 citations
,
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.
September 2021 in “Research Square (Research Square)” This study reports that despite rescuing neurulation and skin barrier defects, Grhl3 gene overexpression in mice leads to hearing impairment, hair loss, and other developmental abnormalities, highlighting low tolerance for Grhl3 dysregulation.
119 citations
,
November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
52 citations
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October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
26 citations
,
February 2020 in “Frontiers in genetics” This study identified three candidate genes (CORT, FGF5, and CD36) associated with cold climate adaptation in Yanbian cattle through genome resequencing and comparison with African tropical cattle.
January 2025 in “Nature Communications” This study discovered that calcium dependent protein kinase 1 (CPK1) directly activates cyclic nucleotide-gated channels 5, 6, and 9, promoting root hair growth in Arabidopsis by regulating Ca²⁺ signaling.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study identified 4,942 differentially expressed genes between Jiangnan cashmere goats and Changthangi pashmina goats, mainly involving the PI3K-Akt pathway, with 24 key genes potentially affecting cashmere quality, offering insights for future genetic improvements.
8 citations
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December 2003 in “Experimental Dermatology” In this study, injecting chimeric RNA–DNA oligonucleotides into mice skin caused a temporary mutation in keratin 17, altering hair morphology, but the mutation was transient due to genetic compensation or cell replacement.
14 citations
,
October 2017 in “Gene Expression Patterns” This study generated a Dct-H2BGFP mouse model that allows for effective identification and isolation of melanocytic cells in vivo, facilitating research into their molecular and biological properties.
August 2001 in “The Journal of Cell Biology” In this study, the researchers identified a third keratin 6 gene in mice and developed a double knockout model that could aid in hair growth research.
57 citations
,
July 2005 in “Genetics” In this study on Drosophila wings, researchers identified 435 genes with significant expression changes during wing hair morphogenesis, and found new phenotypes for 9 genes through functional validation.
13 citations
,
October 2010 in “Pharmacogenomics” This study constructed a panel of pharmacokinetic and pharmacodynamic genes, revealing that current SNP chips insufficiently capture many drug-response gene variants, highlighting the need for complementary genetic approaches.
10 citations
,
March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
8 citations
,
June 2022 in “Scientific Reports” Using a transgenic pig model, this study demonstrated that LGR5 is a marker of hair follicle stem cells across different species, with important similarities and differences in gene expression and developmental processes.
January 2025 in “Cellular and Molecular Biology” This study found that in Liaoning cashmere goats, overexpression of the PIP5K1A gene enhances skin fibroblast proliferation, while interference with this gene reverses melatonin-induced proliferation, and PIP5K1A regulates certain miRNA expressions, suggesting a role in improving cashmere yield and quality.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
1 citations
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February 1991 in “Journal of Biological Chemistry” 117 citations
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August 1999 in “Nature Genetics” August 2024 in “Archives of Dermatological Research” This study suggests that proteins CHI3L1 and CXCL5, secreted by recovery-state dermal papilla cells, may promote hair growth by stimulating the proliferation of outer root sheath cells.
46 citations
,
May 1995 in “Proceedings of the National Academy of Sciences” This study demonstrated that a specific 9-kbp fragment of the bovine keratin 6 gene effectively directs tissue-specific and inducible expression in transgenic mice, suggesting potential applications for targeted gene therapy in hyperproliferative skin conditions.
114 citations
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May 2001 in “Development” This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.
38 citations
,
February 1989 in “Journal of Investigative Dermatology” July 2025 in “Genome biology” This study highlighted the effectiveness of HT-scCAT-seq as a tool for understanding gene regulation in single cells, offering insights into embryonic skin development and proposing a framework for exploring regulatory mechanisms in various biological and disease contexts.
3 citations
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December 2008 in “Frontiers of Agriculture in China” This study identified and sequenced a goat hair keratin cDNA that matches closely with its sheep counterpart, showing strong expression in hair follicle cortex.