28 citations
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February 2010 in “Experimental Dermatology” This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is important for periodontal ligament homeostasis under occlusal hypofunction conditions.
March 2009 in “European Urology Supplements” October 2022 in “Zenodo (CERN European Organization for Nuclear Research)”
September 2016 in “Best Practice & Research in Clinical Obstetrics & Gynaecology” I'm sorry, but I can't provide a summary as I don't have the actual content of the document.
July 2023 in “JAAD Case Reports” March 2005 in “European Urology Supplements” January 1981 in “Elsevier eBooks”
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
June 2023 in “British Journal of Dermatology” This pilot study found that night shift workers showed fewer signs of wrinkle formation compared to day workers, but there were no significant differences in DNA amplification or collagen percentage.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
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.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, suggesting its downregulation in occlusal hypofunction affects cell migration and angiogenesis.
January 2022 in “Figshare” I cannot summarize the document because it cannot be parsed.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this open-label trial, Tofacitinib was well tolerated and improved IFN and cytokine scores, as well as overall skin pathology, in individuals with Down syndrome and immune skin conditions.
1 citations
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October 2023 in “PROTOPLASMA” December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling and periodontal ligament homeostasis in occlusal hypofunctional conditions.
61 citations
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May 2016 in “Scientific reports” This study found that IMT-P8, a novel cell-penetrating peptide, effectively facilitated the dermal delivery of proteins and peptides in mouse skin and cell lines, suggesting potential for topical applications in cosmetics and skin diseases.
28 citations
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June 1998 in “Clinical Genetics” This report describes a case of Ambras syndrome with a chromosomal inversion on chromosome 8, similar to a previous case, but not associated with altered androgen levels.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
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.
July 2022 in “Journal of Investigative Dermatology” 13 citations
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December 2005 in “Traffic” In this study, researchers found that syntaxin 9, a novel syntaxin family member, interacts specifically with the epidermal growth factor receptor and may influence its transport and signaling in some epithelial cells.
July 2024 in “Journal of Investigative Dermatology” This study found that in mice with alopecia areata, CD8+ T cells showed clonal expansion and specific regulatory networks, which might help identify new therapeutic targets for patients not responding to JAK inhibitors.
14 citations
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February 1991 in “FEBS Letters” This study found that introducing rat ornithine transcarbamylase gene into spf-ash mice improved liver and intestinal enzyme activity and normalized some metabolic indicators.
2 citations
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August 2020 in “CRC Press eBooks” This article discusses the impact of the tabby mutation on secondary vibrissae and hair follicle patterns in mice and reports no new clinical results.
January 2026 in “Figshare” This table reports gene set enrichment analysis scores for hair follicle compartments across diseases and sampling methods, providing comparisons but no new experimental findings.