January 2026 in “Human Mutation” This study reports that a clinical prognostic model based on immune-related genes improved survival prediction for patients with clear cell renal cell carcinoma, also identifying potential drugs targeting the gene DOCK8.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study identified altered mRNA and lncRNA profiles in NS scalp tissues, highlighting CDKN2AIP as a downregulated gene involved in a ceRNA network.
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.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
5 citations
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June 2008 in “British Journal of Dermatology” November 2005 in “PubMed” In this study, the researchers successfully cloned and sequenced the hairless gene cDNA of Kunming mice, revealing high conservation and functional significance among various mammalian species.
26 citations
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October 2018 in “Cancer Management and Research” This study suggests that elevated DKK1 expression, influenced by promoter methylation, is a significant prognostic biomarker for patients with head and neck squamous cell carcinoma.
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.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
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.
This study found that deleting the Mad2l1 gene in mice leads to rapid onset of acute lymphoblastic leukemia and liver cancer due to induced chromosomal instability.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
41 citations
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December 1988 in “Journal of Investigative Dermatology” 13 citations
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February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
June 2026 in “Strathprints: The University of Strathclyde institutional repository (University of Strathclyde)” In this study, researchers found that inhibiting IKKα in patient-derived CCS tumour models reduces tumour viability, supporting the potential for topical IKKα inhibitors as a treatment for CCS.
January 2026 in “International Journal of Molecular Sciences” This study found that eyebrow follicles, as opposed to buccal swabs or nails, are the most reliable tissue for post-HSCT germline genetic testing due to lower donor DNA contamination.
36 citations
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November 2005 in “Forensic Science International” This study developed a new STR typing strategy for forensic casework, enabling the simultaneous analysis of 11 polymorphic systems, particularly useful for limited or degraded DNA samples such as telogen hair roots.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that conditional deletion of CD271 in mouse epidermis led to significant disorganization and increased thickness, suggesting CD271's crucial role in regulating skin differentiation and structure.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
31 citations
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April 2004 in “Journal of Investigative Dermatology” This study found that a newly identified gene, mK17n, may explain the lack of nail issues in mK17 null mice by compensating for mK17's function in the nail bed.
6 citations
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March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
October 2025 in “Cell Death and Disease” In this study, researchers developed two novel mouse models to investigate how CD271 deletion in keratinocytes affects skin homeostasis, finding that it leads to changes resembling dysplastic skin conditions with immune cell recruitment and inflammatory cytokine release.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
57 citations
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July 2000 in “Toxicology Letters” This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.
9 citations
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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.
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.
18 citations
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September 2003 in “International Journal of Cancer” This study found that Epstein-Barr virus infection upregulated a truncated variant of human basic hair keratin 1 (hHb1-ΔN) in gastric carcinoma cell lines, suggesting a possible link to carcinoma differentiation.
2 citations
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July 2019 in “PLOS ONE” This study found that the CYP3A4 rs4646437 genotype was significantly associated with ALT elevation in Japanese patients undergoing asunaprevir plus daclatasvir therapy for chronic HCV infection, suggesting genotyping may help in monitoring patients safely.