1 citations
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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.
5 citations
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January 2018 This study optimized a screening assay to identify molecules that inhibit or enhance TRPM5 ion channel activity, which may have implications for treating dysfunctions linked to cardiac arrhythmias and diabetes.
3 citations
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October 2024 in “International Journal of Molecular Sciences” This study found that subthermal CRET treatment increased keratinocyte proliferation and modulated cytokine production, affecting the inflammatory response in human keratinocytes through EGFR and ERK1/2/NF-κB pathways.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
43 citations
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January 1999 in “Endocrinology” This study found that cortisol increases mac25/IGFBP-rP1 expression in osteoblast-enriched cells from fetal rat calvariae, indicating transcriptional regulation which may influence IGF and insulin effects in bone.
25 citations
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February 2021 in “Diabetes” This study found that Dock5 plays a crucial role in keratinocyte function and wound healing, with its expression reduced in diabetic models but improving healing when restored.
1 citations
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October 2020 in “Research Square (Research Square)” This study identified a 505-bp indel variant in the FGF5 gene associated with cashmere growth in goats, which may serve as a molecular marker in cashmere goat breeding programs.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
64 citations
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February 2008 in “Cancer Research” This study reports that eliminating both Trp53 and Rb genes in mouse epidermis accelerates aggressive squamous cell carcinoma development due to early activation of the epidermal growth factor receptor/Akt pathway.
1 citations
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January 2025 in “Frontiers in Oncology” This review highlights REV7's crucial roles in maintaining genome stability, its implication in several cancers, and its association with poor prognoses and treatment resistance, while also noting that REV7 suppression may improve chemotherapy sensitivity.
9 citations
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October 2022 in “Nature Communications” In this study, researchers developed a new photoactivatable Cre recombinase mouse model, DiLiCre, which allows precise light-induced genetic modifications and cell tracing, demonstrating its effectiveness for advancing biological and biomedical research.
April 2017 in “Journal of Investigative Dermatology” In this study, HPH-15, a newly synthesized compound, demonstrated potential in reducing skin fibrosis in a mouse model by targeting underlying pathogenic mechanisms and exhibited a good safety profile, warranting further clinical trials for fibrotic skin disorders like systemic sclerosis.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
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.
4 citations
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November 2017 in “PubMed” This pilot study found a correlation between individual genetic inflammation profiles and the effectiveness of PRP treatment for hair regeneration, with differences observed between male and female responses.
23 citations
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July 2020 in “BMC Genomics” This study identified a stable combination of house-keeping genes, NCBP3 + SDHA + PTPRA, for normalizing gene expression in goat skin tissues using RNA sequencing.
1 citations
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November 2023 in “Rice” This study found that PRX102, a peroxidase with a unique polar localization pattern, plays a role in root hair growth by aiding the transport of materials to the tips of growing root hairs.
2 citations
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December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” This study found no evidence that CTLA-4 gene polymorphism (rs733618) plays a role in polycystic ovarian syndrome among the participants.
25 citations
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June 2018 in “Journal of The American Academy of Dermatology” This study identified upregulation of genes linked to fibroproliferative disorders, such as platelet-derived growth factor and collagen genes, in patients with central centrifugal cicatricial alopecia, suggesting potential therapeutic targets.
11 citations
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August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies Armadillo Repeat Only proteins as crucial regulators of plant CNGC channels, influencing various plant functions and showcasing a unique plant-specific role in Ca2+ signaling.
13 citations
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November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
15 citations
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February 2021 in “Scientific Reports” This study found that novel RNA aptamers specifically inhibited FGF5-induced cell proliferation, suggesting their potential as candidates for treating FGF5-related diseases or hair disorders.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
This study found that ocu-miR-205 promotes the apoptosis of dermal papilla cells and the transformation of hair follicles from growth to regression and resting phases in Rex rabbits.
August 2016 in “Journal of Investigative Dermatology” This study reported improvement in hair loss lesions in C3H/HeJ mice with alopecia areata following treatment with the CCR5 inhibitor maraviroc, alongside reduced infiltration of specific T cells in the lesions.