2 citations
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September 2017 in “Journal of Investigative Dermatology” This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.
3 citations
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May 2019 in “Cytotherapy” In this study, only a subset of proposed biomarkers universally responded to priming in mesenchymal stromal cells, suggesting limited utility for standardized potency assays across different MSC types and conditions.
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 analyzed inner root sheath-specific genes in Tan sheep during various growth stages, finding peak expression at birth. The pattern of genes KRT71, KRT72, and TCHH is consistent with wool crimp, potentially influencing wool morphology.
December 2000 in “日本組織細胞化学会総会プログラムおよび抄録集”
36 citations
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June 2021 in “Experimental & Molecular Medicine” This study found that mechanical stress activates a WISP-1/Hedgehog signaling axis that contributes to ligamentum flavum hypertrophy and fibrosis, identifying Hedgehog signaling as a potential therapeutic target.
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.
November 2018 in “Annals of oncology” This study found that the computer-controlled RV-01 scalp cooling device helped prevent significant hair loss in metastatic breast cancer patients treated with eribulin, with none of the 16 patients requiring a wig and experiencing minimal discomfort.
October 2006 in “Urology” The study found that different criteria led to different patient groups in the CombAT study compared to the MTOPS study.
January 2013 in “CINECA IRIS Institutial research information system (University of Pisa)” 4 citations
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April 2014 in “Lasers in Surgery and Medicine” This observational study reports that a TRASER device using specific wavelengths for vascular and follicular targets showed both clinical responses and histological changes, suggesting its potential as an effective vascular and hair removal tool.
1 citations
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January 1980 in “Computer Physics Communications”
137 citations
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October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
January 2020 in “International Journal of Research in Pharmacy and Chemistry” This study developed a validated HPLC method for accurately estimating dutasteride and its related compounds in capsules, suitable for routine and stability sample analysis.
40 citations
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January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.
5 citations
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June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.
15 citations
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January 1991 in “Mammalian Genome” 13 citations
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January 2024 in “Journal of Nanobiotechnology” This research reported that a newly developed adhesive wound dressing (SIS/PAA/LAP) demonstrated higher tissue adhesion and burst strength compared to conventional products, and improved tissue repair outcomes in animal models, suggesting potential for enhanced wound healing applications.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
March 2009 in “European Urology Supplements”
April 2018 in “Journal of Investigative Dermatology” This study demonstrated that in genetic mouse models, the calcium sensor Stim1, not Stim2, is essential for sweat secretion in sweat glands.
September 2023 in “Journal of the American Academy of Dermatology” This study found that the Arabidopsis cation chloride cotransporter (CCC1) is crucial for regulating pH and processes in the trans-Golgi-network/early endosome, impacting plant growth and stress responses.
February 2007 in “Technology in Society” 5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.
3 citations
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December 2023 in “Aging” In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.
April 2024 in “arXiv (Cornell University)” In this study, the researchers developed an advanced robotic system called STITCH for performing suture tasks, which completed an average of 2.93 sutures autonomously and 4.47 sutures with human intervention in physical trials.
May 2017 in “Journal of The American Academy of Dermatology” An intact skin barrier is crucial to prevent infection in cases of tether-induced tenosynovitis.
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.