This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications.
3 citations
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January 2022 in “Burns & Trauma” This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.
46 citations
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May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the vitamin D receptor is essential for the self-renewal, migration, and differentiation of epidermal stem cells during skin wound healing in mice.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
6 citations
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March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
May 2026 in “Journal of Medicinal Chemistry” In this study, the authors developed a novel PROTAC named dAR-6–1, which demonstrated superior hair regeneration in an AGA mouse model compared to minoxidil, highlighting its promise as a therapy due to potent AR degradation and excellent skin permeability.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” This case report describes a 54-year-old woman with familial dyskeratotic comedones who experienced slight improvement in her skin lesions after three months of treatment with topical retinoids and urea cream.
1 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study uses cryo-electron microscopy to reveal how androgen receptor forms a non-obligate dimer to bind DNA, with implications for prostate cancer development.
5 citations
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March 2019 in “Journal of lipid research” This study reports new fluorogenic ceramidase substrates and highlights RBM14C24:1 as an efficient substrate for neutral ceramidase, while RBM15C18:1 is the best probe for measuring ACER1 and ACER2 activities, potentially aiding high-throughput screening for ceramidase inhibitors.
40 citations
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March 2019 in “Nature Communications” This study found that deleting Stim1 and Stim2 in mature T regulatory cells disrupts Ca 2+ signaling, preventing their differentiation and leading to severe autoimmune disorders in mice.
October 2014 in “Microscopy” This study found that using ionic liquid for specimen preparation allowed for observation of dermal papilla cells and their cilia in near-living conditions, reducing damage typically caused by conventional preparation methods.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
6 citations
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October 2023 in “JAAD Case Reports” This study describes dissecting cellulitis of the scalp (DCS) as a rare and aggressive form of chronic scalp inflammation presenting with pustules and nodules, commonly affecting males and African Americans, and leading to significant quality of life impacts and psychological distress.
4 citations
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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.
2 citations
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April 2023 in “American Journal of Dermatopathology” This study suggests that central centrifugal cicatricial alopecia may involve a CD4-predominant T-cell process with potential PD1/PDL1 pathway involvement, indicated by increased caspase 3 expression and loss of PDL1.
January 2026 in “SSRN Electronic Journal” 39 citations
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August 1998 in “FEBS Letters” In this study, researchers identified two novel peptidylarginine deiminases from treated rat keratinocytes, both showing enzyme activity with PAD‐R11 reflecting a characteristic of epidermal enzymes.
88 citations
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August 2019 in “Nature communications” In this study, researchers identified a specific T cell receptor associated with carbamazepine-induced severe cutaneous adverse reactions, demonstrating its potential for therapeutic development in patients with the HLA-B*15:02 genotype.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
47 citations
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February 1998 in “Journal of bone and mineral research” In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.
4 citations
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April 2022 in “Evidence-based Complementary and Alternative Medicine” This study found that dracorhodin perchlorate improved wound healing in diabetic rats by regulating the TLR4 pathway and related inflammatory factors.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
December 2024 in “Tissue and Cell” In this study, researchers developed a method to automatically detect androgen receptor nuclear translocation in dermal papilla cells using fluorescence markers and image analysis, finding that the receptor's nuclear signal peaks about 20 minutes after DHT exposure.
2 citations
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August 2014 in “Journal of dermatological science” This study found that krh/krh rats serve as a suitable model for non-inflammatory acne and that adapalene treatment decreased open comedones and altered lipid metabolism and cytokine production in these rats.
April 2018 in “Journal of Investigative Dermatology” This study found that combining CelluTome system and RCM is a safe and effective protocol for evaluating wound healing responses in patients with epidermolysis bullosa.
8 citations
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December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
April 2017 in “Plastic and reconstructive surgery. Global open” In this study with a rat muscle defect model, decellularized muscle matrix demonstrated better integration, neovascularization, and myogenesis compared to commercially available acellular dermal matrices, and also showed trends toward reduced inflammation and fibrosis after 30 and 60 days.
June 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” This study found a specific T cell receptor that may be key in carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis, suggesting potential therapeutic targets.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.