76 citations
,
June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
114 citations
,
July 2003 in “PubMed” This study found that KSR1 is necessary for v-Ha-ras-mediated skin tumor formation but not for MT-driven mammary cancer, indicating its potential as a therapeutic target in Ras/MAPK signaling-related tumors.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
11 citations
,
June 2012 in “Acta histochemica” This study found that Gsdma3 mutations in mice led to thicker skin and longer hair infundibula, possibly by negatively regulating β-catenin expression in the epidermis.
31 citations
,
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.
76 citations
,
February 2007 in “Cancer Research” This study reported that UVR induced PKCε phosphorylation of Stat3 in transgenic mice, suggesting a role in enhancing sensitivity to UVR-related skin cancer development.
1 citations
,
July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
22 citations
,
August 1999 in “Mechanisms of Development” This study identified two novel genes, pmg-1 and pmg-2, expressed in various skin and gland tissues and potentially involved in the differentiation of epithelial cells in epidermal appendages.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.
10 citations
,
July 2023 in “Pharmaceutics” In this study using mice and human keratinocyte cells, researchers found that activating PKM2-mediated glycolysis and Wnt/β-catenin signaling, particularly via combined treatments, significantly accelerated wound healing and induced angiogenesis in wound beds.
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.
79 citations
,
October 1998 in “Genomics” This study found that the mK6alpha and mK6beta genes in mice are regulated differently at the mRNA level, with implications for understanding K6 gene evolution and function in mammals.
5 citations
,
July 2014 in “Molecular Biology Reports”
4 citations
,
July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
12 citations
,
July 2015 in “Experimental Dermatology” This study found that overexpression of Gsdma3 in mice led to epidermal hyperplasia, skin inflammation, and hair growth defects, suggesting gain-of-function mutations in Gsdma3 cause these conditions.
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.
2 citations
,
April 2022 in “Research Square (Research Square)” This study found that activating PKM2 and Wnt/β-catenin signaling enhanced hair regrowth and hair follicle stem cell proliferation in mice, suggesting a potential alopecia treatment strategy.
58 citations
,
July 2005 in “Molecular and Cellular Biology” This study showed that a 2-kilobase upstream region of the mouse keratin 17 gene enables targeted GFP expression in major epithelial appendages of transgenic mice, indicating sonic hedgehog's involvement in its regulation.
2 citations
,
January 2017 in “Folia biologica” This study identified two single-nucleotide polymorphisms and three haplotypes in the KRTAP7-1 gene across yak, taurine, and zebu cattle, with the BOVIN-KRTAP7-1*A haplotype most prevalent.
This study found that overexpression of antizyme in mice with activated MEK reduced skin tumor growth by inhibiting putrescine accumulation, slowing cell growth, and increasing G2/M transit time.
15 citations
,
June 2011 in “Journal of Investigative Dermatology” This study found that overexpressing the 14-3-3σ protein in transgenic mice reduced keratinocyte proliferation and migration, leading to thinner epidermis and fewer hair follicles due to IGF-1 pathway inhibition.
1 citations
,
July 2023 in “Nature communications” This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.
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
,
August 2009 in “Mechanisms of Development”
This study found that ARHGEF3 is crucial for hair follicle development in mice, as its absence leads to defects in placode compaction and impaired follicle downgrowth, highlighting its role in regulating cell shape rearrangements during embryogenesis.
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.
20 citations
,
May 2011 in “Journal of Clinical Investigation” In this study, a transgenic mouse model was used to demonstrate that targeted cell loss in different tissues led to varying degrees of regenerative outcomes, including reversible impaired glucose tolerance, irreversible hair loss, and permanent moderate deafness.
March 2010 in “European Journal of Cancer Supplements” October 2014 in “Cancer research” This study found that targeting mTORC1 with rapamycin effectively inhibited skin tumor promotion in a mouse model, highlighting a potential target for cancer chemoprevention.