May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study examined the skin transcriptomic differences between Jiangnan and Changthangi cashmere goats, identifying 4,942 differentially expressed genes that may contribute to variations in cashmere quality, with notable enrichment in various signaling pathways and structural components of hair follicles.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
2 citations
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April 2018 in “Journal of Investigative Dermatology” This case study in a renal transplant patient observed that eruptive KA-type SCCs exhibited aggressive behavior and genetic expression changes following intralesional chemotherapy, indicating potential caution against routine use of such treatments in similar cases.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that DNA methylation regulates hair follicle differentiation in cashmere goats by suppressing gene expression during induction and enhancing it during differentiation, with potential involvement of specific lncRNAs.
January 2025 in “Kuwait Journal of Science” In this study, researchers sequenced the KRT71 gene in 102 dromedary camels to find genetic polymorphisms linked to hair shape, identifying 17 variants but none that fully explained hair shape variations, suggesting other genes may also play a role.
1 citations
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July 2019 in “Small ruminant research” This study suggests that the NGF/TrkA/CREB system plays a crucial role in promoting outer root sheath cell proliferation in cashmere goats, which may aid in marker-assisted breeding.
1 citations
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April 2008 in “Pigment Cell & Melanoma Research” This study suggests that Foxn1 expression in keratinocytes influences pigmentation in mice, highlighting differences in the molecular mechanisms between mouse and human pigmentation processes.
58 citations
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November 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mutations in the Foxn1 gene in nude mice affect not only hair but also nail structure and differentiation, offering insights into nail hypergranulosis pathogenesis relevant to human nail diseases.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
3 citations
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January 2005 in “Photochemistry and Photobiology” This study found that overexpression of PKCɛ in mouse epidermis increased sensitivity to metastatic squamous cell carcinoma, suggesting that a PKCɛ-mediated microenvironment may promote cancer development through specific cytokines like TNFα.
16 citations
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January 2011 in “Archives of Dermatological Research” This study identified 77 genes with significant expression changes in expanded human skin, suggesting possible mechanisms for skin regeneration during tissue expansion, including previously unreported genes like HOXA5, HOXB2, and AP1.
May 2026 in “Research Square” This research reports that the polyG fragment within the Hoxc13 protein alters its gene regulatory functions, which could have influenced mammalian hair evolution by affecting pathways related to hair follicle development.
January 2011 in “Anhui nongye kexue” This study reports that the recombinant expression vector pcDNA3.1-KK demonstrates specific expression in the skin of newborn mice.
This study mapped genome-wide copy number variations in Chinese indigenous fine-wool sheep, providing a valuable genetic resource for researching complex traits and genetic diversity in this species.
95 citations
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March 2009 in “Differentiation” Gene expression in wool follicles changes with growth cycles, offering insights into wool and human hair growth.
13 citations
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February 2025 in “Nature Communications” In this study, a deep neural network model called regX was developed to prioritize driver regulators for cell state transitions by incorporating gene-level regulation and interactions, showing potential therapeutic targets in type 2 diabetes and hair follicle development when applied to single-cell multi-omics data.
May 2001 in “Journal of Investigative Dermatology” In this study, Maas-Szabowski and Szabowski revealed that c-Jun and JunB transcription factors, as well as granulocyte macrophage-colony stimulating factor, regulate human keratinocyte growth and differentiation in fibroblast–keratinocyte interactions.
July 2024 in “PLANT PHYSIOLOGY” In this study on Arabidopsis, the researchers identified CIPK13 and CIPK18 as crucial genes for root hair growth, finding that deficiencies in these genes resulted in shorter root hairs and reduced growth rates due to altered calcium oscillations.
36 citations
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September 1999 in “Journal of Cell Science” This study suggests that basonuclin may act as a tissue-specific transcription factor for ribosomal RNA genes by interacting with the promoter region necessary for high transcription levels in human keratinocytes.
65 citations
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September 2010 in “Journal of the Neurological Sciences” This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.
35 citations
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September 2009 in “Development” This study found that overexpression of the intercellular adhesion protein Necl2 in hair follicle stem cells was associated with reduced cell proliferation and delayed wound healing in both cultured cells and transgenic mice.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
7 citations
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January 2020 in “Journal of Dermatology” This study described specific skin and hair follicle abnormalities in three Japanese patients with Cantu syndrome, which may relate to the regulation role of SUR2 in hair follicle growth.
135 citations
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October 1999 in “Journal of Cell Science” This study found that overexpression of PKCα in mouse epidermis increases expression of specific proinflammatory mediators and induces inflammation but does not significantly affect epidermal differentiation, proliferation, or tumor promotion with TPA.
22 citations
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July 1998 in “Journal of Investigative Dermatology” This study identified and characterized a gene called 4C32, which is expressed in the periderm of embryonic mouse skin and has a structure similar to keratin-associated proteins.
18 citations
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January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
37 citations
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June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
33 citations
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September 1990 in “Proceedings of the National Academy of Sciences” This study found that a 671-base pair promoter sequence from the ultra-high-sulfur keratin gene is sufficient to direct tissue-specific and development-specific expression of a reporter gene during hair growth in transgenic mice.