22 citations
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October 2004 in “Journal of Investigative Dermatology” This study identified the rough coat mutation in mice, but found that LOXL is not the causal gene, although its downregulation might contribute to related phenotypic changes.
4 citations
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June 2025 in “Cochrane Database of Systematic Reviews” This Cochrane review found no clear superiority among treatments for central serous chorioretinopathy, with low-dose photodynamic therapy, supplements, and eplerenone showing slightly higher probabilities of improving visual acuity, but evidence remains uncertain due to biases and small study sizes.
August 2019 in “International journal of dermatology and venereology” This review discusses the calcineurin/NFAT pathway's role in cutaneous squamous cell carcinoma, noting its involvement in tumor development, skin cell behavior, and the tumor microenvironment; it reports no new results.
13 citations
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March 2019 in “Pharmacology Research & Perspectives” This study analyzed CADR reports in Singapore, finding nonsteroidal anti-inflammatory drugs, antibiotics, and iohexol frequently associated with serious skin reactions like rash and angioedema, with trends varying by demographics.
33 citations
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May 2017 in “Journal of Clinical Oncology” This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.
303 citations
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October 2000 in “Nature” This study found that RXRα plays a critical role in hair cycling and keratinocyte functions in mice, likely through its interaction with VDR in epidermal cells.
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.
December 2024 in “CONICET Digital (CONICET)” This study found that the small signaling peptide RALF22 plays a key role in root hair growth response to volatile compounds emitted by Penicillium aurantiogriseum through ethylene, auxin, and photosynthesis signaling in Arabidopsis.
June 2025 in “Rapid Communications in Mass Spectrometry” 34 citations
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January 2016 in “Analytical Chemistry” This study reports that a new DART-HRMS method can effectively analyze intact hair for drug use timelines, with cocaine detection aligning with forensic standards and identifying multiple drugs from high-resolution data.
1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
32 citations
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May 2018 in “The Plant Cell” This article discusses the crucial role of root hairs in water and nutrient uptake from soil and reports no new findings.
23 citations
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June 1992 in “PubMed” This study found that RAR-gamma 1 mRNA is present in multiple skin layers and structures, suggesting a role in maintaining and differentiating normal epidermis and skin appendages.
October 2013 in “The American Journal of Gastroenterology” This case study reports a diagnosis of the rare Cronkhite-Canada syndrome in a 60-year-old man, who showed symptom improvement following treatment with prednisone and azathioprine.
9 citations
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January 1997 in “Horticultura: Revista de industria, distribución y socioeconomía hortícola: frutas, hortalizas, flores, plantas, árboles ornamentales y viveros” In this study, researchers found that the transcriptional program regulated by PRC2 is not necessary for maintaining hair follicle stem cell quiescence and hair regeneration in vivo.
40 citations
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June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
January 2024 in “Ankara City Hospital Medical Journal” This case report details a 42-year-old woman with Rhupus, a rare overlap syndrome of rheumatoid arthritis and systemic lupus erythematosus, emphasizing diagnostic challenges due to non-specific clinical criteria and documenting symptoms like inflammatory arthritis, malar rash, and hematological abnormalities.
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.
December 2024 in “Animals” In this study, researchers found that RORA directly regulates the expression of the Bnip3 gene, which is crucial for hair follicle stem cell health, using rat HFSCs as a model. They propose that targeting RORA could modulate HFSC status.
29 citations
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June 2017 in “Journal of Inherited Metabolic Disease” This review discusses the potential of using high-throughput and high-content screening methods for drug repositioning in rare diseases and reports no new results.
10 citations
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November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
36 citations
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November 2018 in “BMC plant biology” This study suggests that ROXYs and reactive oxygen species are likely involved in the signaling pathways plants use to respond to nitrate deprivation.
This case report highlights the diagnosis of Parry Romberg syndrome in a 52-year-old man within a primary care setting, emphasizing the importance of awareness and team discussion among family physicians for rare conditions.
3 citations
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June 2020 in “Open access rheumatology” This case report reviews the management of Rowell syndrome in a patient initially diagnosed with Rhupus syndrome and highlights their development of erythema multiforme after certain medications.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
January 2009 in “한국피부장벽학회지” This study reports that in mice, CaR plays a critical role in sensing the epidermal Ca2+ gradient, influencing keratinocyte differentiation, and affecting epidermal development.
November 2024 in “SKIN The Journal of Cutaneous Medicine” This study reports that ritlecitinib was prescribed to a diverse group of patients, including adolescents and adults with and without prior treatment for Alopecia Areata, in the first three months after FDA approval, potentially expanding care options for this condition.
419 citations
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January 2015 in “Journal of Consumer Research” This study found that corporate social responsibility can enhance consumer perceptions of product performance, especially when viewed as motivated by genuine benevolence rather than self-interest.
4 citations
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June 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” This case report describes a 30-year-old woman diagnosed with both Rhupus and Rowell syndromes, and details her presentation and treatment plan, without reporting specific treatment outcomes.