114 citations
,
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.
126 citations
,
October 1998 in “Experimental Dermatology” This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.
April 2005 in “Journal of Investigative Dermatology” This compilation reviews multiple dermatologic studies, reporting findings such as the lack of a psoriasis-susceptibility allele in cluster 17, and highlighting a mouse model for studying hair follicle formation, among others.
January 2022 in “Journal of Biomedical Research & Environmental Sciences” This study suggests that eNOS and STAT6 gene polymorphisms may increase the risk of developing PCOS in South Indian women.
53 citations
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October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
15 citations
,
March 2021 in “EMBO Reports” PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This conference abstract summarizes discussions on human genetics and genetic diseases but reports no new research findings.
380 citations
,
March 2000 in “Proceedings of the National Academy of Sciences” This study demonstrates that mice with ectopic expression of the human GLI-1 gene in their skin developed tumors resembling human basal cell carcinoma, suggesting that GLI-1 is central to tumor development without additional p53 or Ha ras mutations.
January 2025 in “PLoS ONE” This study found that ING5 knockout mice are prone to developing lymphomas and severe dermatitis, suggesting ING5 plays a role in tumor suppression and stem cell maintenance in vivo.
211 citations
,
February 1994 in “Proceedings of the National Academy of Sciences” This study found that overexpression of parathyroid hormone-related peptide in transgenic mice skin disrupted normal hair follicle development, suggesting a role for the peptide in the early stages of follicle formation.
10 citations
,
December 2008 in “Molecular Carcinogenesis” This study found that overexpressing the PML protein in transgenic mice decreased skin tumor occurrence and delayed their progression, highlighting PML's potential role in influencing keratinocyte growth and differentiation.
43 citations
,
October 2006 in “Journal of Cell Science” In this study, researchers found that contrary to expectations, keratin 10 domains did not reduce cell proliferation and instead increased tumor development in genetically modified mice.
4 citations
,
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.
3 citations
,
April 2025 in “Science Advances” This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.
32 citations
,
May 1999 in “Biochemical and Biophysical Research Communications” This study found that the gene BSSP, a serine protease, is predominantly expressed in sebaceous glands and is overexpressed in nude mouse skin.
January 2026 in “Frontiers in Molecular Biosciences” This study identified a four-gene loop as a non-invasive biomarker that selectively activates in alopecia areata, providing a precise target for JAK inhibitor treatments.
July 2023 in “Journal of Biomedical Science” In this review, the authors emphasize that phenotypic heterogeneity in genetic systems and human diseases is influenced by stochastic fluctuation and network topology, proposing that ultrasensitivity and threshold effects explain this variability, which may inform strategies for preventing and treating genetic diseases.
16 citations
,
May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
1 citations
,
September 2011 in “Journal of Dermatology” This letter reports a woman with nevoid basal carcinoma syndrome and pronounced androgenic alopecia associated with a novel PTCH gene mutation p.Leu1159fsx32, suggesting a genetic link in this case study.
December 2022 in “Research Square (Research Square)” In this study, the researchers developed a quantum algorithm, QuantAnts machines, which identified complexes of CD9, CD34, and CD74 as potential targets for certain cancers involving the RAS pathway.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study compiled and functionally annotated 489 genes associated with hair disorders, revealing their involvement in diverse biological pathways, including those linked to cancer and cellular signaling.
8 citations
,
January 2022 in “Infectious diseases News Opinions Training” This review discusses gene polymorphisms in COVID-19 patients but reports no new clinical findings.
99 citations
,
February 2000 in “PubMed” This study found that overexpression of PKCepsilon in transgenic mice reduced papilloma development but accelerated carcinoma formation in a skin tumor promotion model.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
166 citations
,
July 1999 in “American Journal Of Pathology” This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
The research found that while Dnmt3a and Dnmt3b are not necessary for skin homeostasis in mice, the loss of Dnmt3a increases squamous tumor formation from carcinogens, and combined deletion of both results in more aggressive and metastatic tumors.
333 citations
,
March 2000 in “Proceedings of the National Academy of Sciences” In this study, researchers established that increased expression of the human GLI-1 gene in mouse skin leads to the development of tumors that closely resemble human basal cell carcinomas, without requiring additional mutations in the p53 or Ha ras genes.
April 2023 in “Journal of Investigative Dermatology” This study found that in a mouse model of Gorlin syndrome, constitutive activation of signaling in dermal cells led to abnormal follicular growth, indicating non-epidermal factors may contribute to the disease.
This chapter reviews current and future strategies for identifying ligands and functions of orphan G protein-coupled receptors, but it reports no new experimental results.