106 citations
,
March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
7 citations
,
January 2025 in “Journal of Experimental & Clinical Cancer Research” This study found that PRMT5 inhibitors showed potent anti-tumor activity in models of adenoid cystic carcinoma and that combining these inhibitors with lenvatinib may have additional growth-inhibitory effects.
7 citations
,
March 2024 in “Skin Research and Technology” This study identified miR-200c-3p as influencing key genes in the EGFR resistance pathway, suggesting its potential theranostic role in addressing issues related to this pathway.
157 citations
,
October 2003 in “Development” This study found that different stabilizing mutations in Aux/IAA proteins affect root hair development in Arabidopsis by disrupting the auxin response and suggest a model where the relative abundance of these proteins determines root hair initiation.
14 citations
,
April 2016 in “PloS one” This study found that the promoter region of the sheep KRTAP11-1 gene drives specific transcriptional activity in wool follicles, suggesting it may regulate hair keratinocyte specificity.
20 citations
,
July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
January 2008 in “Memorial University Research Repository (Memorial University)” This study found that the NHD domain, but not the PHD domain, of hPygo2 is crucial for Wnt-independent growth of ovarian cancer cells, and identified a key interaction with Treacle protein involved in ribosomal biogenesis.
28 citations
,
December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
1 citations
,
April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified the NAC transcription factor RD26 as a critical regulator of drought-induced root hair growth restriction in Arabidopsis thaliana, with a similar mechanism observed in tomatoes, indicating evolutionary conservation.
37 citations
,
April 2011 in “Journal of Biological Chemistry” This study discovered a novel interaction between the vitamin D receptor and LEF1, essential for normal Wnt signaling in keratinocytes, which is crucial for regular hair cycling.
16 citations
,
August 2022 in “Nature Communications” In this study, researchers discovered that ROR2, a Wnt receptor, plays a crucial role in regulating hair follicle stem cell self-renewal and maintenance, compensating for the absence of β-catenin.
6 citations
,
April 2023 in “Current Issues in Molecular Biology” This study identified three variants in the HR gene among Mexican patients with alopecia areata, with one novel variant potentially serving as a risk factor for the disease.
1 citations
,
May 2024 in “Communications Biology” This study found that Dab2 conditional knockout mice experienced delayed hair follicle cycles and reduced hair follicle stem cell activity, suggesting Dab2's crucial role in regulating stem cell activation and anti-aging process in hair follicles.
3 citations
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
176 citations
,
February 2006 in “Cancer Research” This study found that loss of Ptch1 function in mouse skin's basal cells is sufficient to rapidly induce tumors resembling human basal cell carcinoma, suggesting Ptch1 as a key tumor suppressor.
5 citations
,
April 2022 in “Genes” In Angora rabbits, overexpression of miR-129-5p was found to induce apoptosis and inhibit proliferation of dermal papilla cells, highlighting its role in hair follicle development by targeting HOXC13.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
Defective protein folding due to a mutation is key in ANE syndrome.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.
3 citations
,
April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
April 2012 in “Development” This study found that Rac1 activity in specific skin compartments is sufficient for hair formation, but results in hair with altered structure and pigmentation compared to normal.
December 2025 in “International Journal of Surgery” In this study, researchers identified a causal link between Epstein-Barr virus infection and clear cell renal cell carcinoma, highlighting GBP1 as a key target and suggesting finasteride as a potential inhibitor, offering a new direction for treatment strategies.
13 citations
,
November 2018 in “Animal Genetics” This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.
4 citations
,
February 2021 in “Plant journal” This study found that the protein OsUEV1B is essential for maintaining phosphate balance in rice, with Pi deficiency leading to its inhibition and causing overaccumulation of phosphate in mutants.
4 citations
,
January 2001 in “Archives of Biochemistry and Biophysics” This study found that TPA induces apoptosis in pig renal epithelial cells by affecting cell cycle proteins, and activated ras can prevent this process.
March 2026 in “Animal Models and Experimental Medicine” In a dermal Gorab knockout mouse model, this study found that Gorab mutations increase P53 protein accumulation and disrupt extracellular matrix expression, contributing to accelerated skin aging and suggesting a pathway involving epigenetic regulation.
36 citations
,
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.