April 2023 in “Journal of Investigative Dermatology” This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.
32 citations
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March 2013 in “EMBO journal” This review discusses auxin's role in regulating plant growth through TOR activation and translation reinitiation but reports no new experimental findings.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
August 2023 in “Frontiers in Endocrinology” This study identified novel mitochondrial DNA variations in PCOS patients from Pakistan, which may serve as genetic predisposition markers, highlighting especially the potential pathogenicity of frameshift mutations in the MT-ND2 gene.
54 citations
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February 2002 in “Carcinogenesis” This study suggests that activation of polyamine catabolism in K6-SSAT transgenic mice may significantly increase skin tumor development and progression to carcinomas following chemical induction.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
This study found that super-enhancers in squamous cell carcinoma stem cells are distinctly different from those in normal skin stem cells, with ETS2 playing a crucial role in promoting tumor growth.
61 citations
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June 2019 in “BMC Genomics” This study explored the expression and potential functions of long non-coding RNAs in the skin pigmentation of Koi carp, revealing their involvement in pigmentation and differentiation mechanisms.
4 citations
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January 2023 in “Proteomes” This review explores the complex, context-dependent roles of tumor-secreted proteins and suggests that some proteins traditionally seen as tumor-promotive may act as tumor-suppressors in different environments, emphasizing the influence of cell fitness and treatment exposure.
29 citations
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January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
61 citations
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September 2008 in “Stem Cells” This study found that DNA strand segregation in multipotent hair follicle stem cells occurs randomly during development and tissue homeostasis, challenging the immortal strand hypothesis.
20 citations
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October 2005 in “Archives of Dermatological Research” This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.
1 citations
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April 2021 in “IntechOpen eBooks” This review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.
28 citations
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July 2007 in “Development” In this study, inactivating the TAF4 subunit of transcription factor TFIID in mouse epidermis disrupted gene expression linked to skin and hair function, and increased tumor risk.
April 2026 in “Current Opinion in Genetics & Development” This mini-review explores how both endogenous and damage-released RNAs serve as instructional signals that influence cell identity and plasticity during tissue maintenance and repair, highlighting RNA's role as a regulator of cellular flexibility in various regenerative contexts.
September 2023 in “Research Square (Research Square)” This study found that TNC + fibroblasts are crucial in neuro-immune interactions in various skin diseases, particularly inflammation and tumors, by engaging extensively with immune cells and overexpressing inflammatory genes, suggesting their significant role in skin abnormalities.
January 2025 in “BMC Genomics” In this study, researchers identified thousands of mRNA, lncRNA, circRNA, and miRNA transcripts involved in different hair follicle stages of Rex rabbits and highlighted significant gene expression changes and pathway enrichments, providing insights into the regulatory mechanisms of hair development in these animals.
21 citations
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August 2007 in “Experimental Dermatology” This study found that mice genetically modified to overexpress the serine protease inhibitor hurpin showed reduced UV-induced apoptosis but increased susceptibility to skin cancer after chemical carcinogenesis.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.
9 citations
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October 2025 in “MedComm” This review discusses the development and clinical progression of PROTAC technology for targeted protein degradation, highlighting its potential to address previously "undruggable" targets but reports no new clinical results.
This study constructed a genomic map of copy number variations in fine-wool sheep, revealing their potential impact on traits like growth, nutrient metabolism, and susceptibility to selection pressures.
31 citations
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September 1999 in “Molecular Carcinogenesis” This study in a transgenic mouse model found that repressing overexpression of ornithine decarboxylase reduced papilloma development, indicating its role in tumor promotion sensitivity.
November 2025 in “PLoS ONE” This study found that synthetic RNA and DNA trigger significant increases in certain chemokines in human keratinocytes, predominantly via NF-κB activation, without evidence of alternative splicing, suggesting other regulatory pathways may be involved.
49 citations
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August 1999 in “Journal of Investigative Dermatology” In this study, transgenic mice expressing Msx-2 developed flaky skin with hyperproliferation and misalignment in epidermal cells, suggesting Msx-2 plays a role in skin and appendage growth control.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
December 2025 in “Mycoses” In this study involving a murine skin infection model, researchers found that the Trichophyton mentagrophytes strain TIMM 2789, specific to rodents, induced typical symptoms of superficial dermatophytosis, while revealing that the fungal gene SUB6 is not essential for virulence.
This study observed that TBX3 mRNA expression levels were region-specific and correlated with pigmentation patterns in dun Mongolian horses, providing insights into the genetic mechanisms behind their distinctive Bider markings.
May 2023 in “Elsevier eBooks” This source outlines current research exploring CRISPR-Cas9, siRNA, miRNA, and tissue engineering as potential treatments for androgenetic alopecia, noting the need for further safety and efficacy studies before human application.