28 citations
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February 2012 in “PLoS ONE” In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.
January 2013 in “Touro Scholar (Touro College)” This review concluded that Diphenylcyclopropenone may offer the best treatment results for alopecia areata, although further research into the disease's pathogenesis could improve therapeutic options.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
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.
8 citations
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January 2019 in “Journal of cosmetic dermatology” This study found that six sessions of a modified phenol peel effectively reduced hyperpigmentation in patients with Lichen Planus Pigmentosus, with 76% of treated individuals experiencing at least a 25% improvement, and no serious side effects reported.
6 citations
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November 2019 in “The application of clinical genetics” This study identified a significant genetic association between the TNFα gene and alopecia areata susceptibility in the Jordanian Arab population.
June 2009 in “Mayo Clinic Proceedings” This report describes a 66-year-old woman's diagnosis of porphyria cutanea tarda, suggested by her painless blisters on sun-exposed areas, pink urine, and elevated urinary porphyrins.
37 citations
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August 2014 in “Journal of experimental botany” This study identified the AtPRPL1 gene in Arabidopsis thaliana as being involved in cell elongation processes, despite unclear changes in cell wall composition from its altered expression.
January 1988 in “Toxicological Sciences” In this study, a single oral dose of 2,3,4,7,8-pentachlorodibenzofuran in male Fischer rats led to dose-dependent toxicity, resulting in weight loss, hepatotoxicity, and mortality.
July 2026 in “Pediatric Allergy and Immunology”
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
November 2023 in “PubMed” This study showed that intralesional injections of pentoxifylline may be an effective and safe alternative to triamcinolone acetonide for treating localized alopecia areata.
16 citations
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January 2001 in “Clinical and Experimental Dermatology” Photodynamic therapy was effective in treating multiple scalp basal cell carcinomas with minimal side effects and good cosmetic results.
July 2022 in “Media Dermato Venereologica Indonesiana” In this case study, a 29-year-old man with alopecia areata experienced satisfactory hair regrowth after five months of combined intralesional triamcinolone acetonide and platelet-rich plasma therapy.
February 2024 in “Zagazig University Medical Journal” This study found that TCF7L2 gene polymorphism is linked to alopecia areata, but no significant difference in treatment outcomes was observed between PRP and conventional therapy among different genotypes.
1 citations
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January 1992 in “DNA sequence” This study found that a cuticle keratin gene in sheep is a pseudogene due to gene duplication and mutations, lacking expression in vivo.
19 citations
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January 2001 in “Internal Medicine” This case report demonstrates a strong association between protein-losing enteropathy and systemic lupus erythematosus, with symptoms and conditions improving with prednisolone treatment.
1 citations
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January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
8 citations
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September 2021 in “EMBO Molecular Medicine” This study found that a 5-mer peptide called P5 promotes hair growth by activating adiponectin receptor 1, suggesting its potential use as a topical treatment for alopecia.
51 citations
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January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel keratin-associated protein, KAP24.1, which is specifically expressed in the human scalp and located in the hair cuticle.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
September 2023 in “Journal of the American Academy of Dermatology” This study found that in participants with notalgia paresthetica, 8 weeks of treatment with difelikefalin significantly improved itch intensity and increased the rate of strict complete response compared to placebo, starting as early as week 3.
January 2024 in “Annals of Dermatology” This study found that DPCP immunotherapy effectively treats alopecia areata, identifying factors that influence treatment response and patient satisfaction, which may aid in standardizing the treatment for improved outcomes.
11 citations
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January 1997 in “Journal of Dermatological Science” This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.
This study identified the Arabidopsis cation chloride cotransporter CCC1 as essential for regulating pH and function in the trans-Golgi network/early endosome, with its absence causing significant growth and stress response defects.
37 citations
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September 2009 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study found that diphencyprone is an effective and safe treatment for extensive alopecia areata, especially with long-term therapy and maintenance to reduce relapse risk.
February 2013 in “Journal of the American Academy of Dermatology” This study found that the Arabidopsis cation chloride cotransporter CCC1 is critical for regulating pH in the trans-Golgi network/early endosome, impacting plant growth and stress response.
September 2022 in “Indian Journal of Paediatric Dermatology” This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
16 citations
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June 1992 in “Journal of Investigative Dermatology”