1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
20 citations
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February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
10 citations
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October 2017 in “Pediatric neurology” This case report suggests that poor hair and nail growth in children with autism spectrum disorder and developmental delay may indicate a biotin-responsive condition, as biotin and acetazolamide therapy improved symptoms and school performance in the reported patient.
6 citations
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July 2013 in “Acta Clinica Belgica” This review discusses idiopathic hirsutism and suggests that combination treatment, including androgen suppression and cosmetic methods, is most effective, but notes that its pathogenesis remains unclear.
April 2024 in “Research Square” IBD patients treated with TNF antagonists may develop autoimmune alopecia areata, with severe cases less likely to improve.
11 citations
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March 2021 in “Reproductive Biology and Endocrinology” This study found that bloating is the most frequently reported symptom and a main predictor of polycystic ovary syndrome among women using the Flo app across five countries.
7 citations
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December 2008 in “Expert Review of Dermatology” This article reviews hair and nail disorders in children, emphasizing their prevalence, congenital and acquired origins, and the diagnostic challenges compared to treatment, but reports no new clinical results.
March 2024 in “International journal of molecular sciences” In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.
9 citations
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October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
August 2022 in “Case reports” In this case report, isotretinoin treatment led to complete remission of folliculitis decalvans lesions in a 26-year-old male after a year and a half, despite the lack of certain histopathology images and control tests; the findings also suggest potential familial clustering needing further genetic investigation.
36 citations
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July 2020 in “American Journal of Infection Control” This study observed that males aged 60 to 79 were admitted and died from COVID-19 more frequently than females, and Latin Americans were more often admitted to the ICU.
9 citations
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January 2018 in “Hair transplant forum international” This correspondence discusses issues related to overharvesting and challenges in measuring factors that impact donor coverage in hair transplantation procedures, but it does not report specific study results or outcomes.
May 2022 in “Journal of Education, Health and Sport” This review discusses the associations between dermatological disorders and increased cardiovascular risk, emphasizing that skin conditions with chronic inflammation may elevate the likelihood of cardiovascular diseases.
22 citations
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March 2017 in “Journal of the Formosan Medical Association” This report presents the Taiwanese Dermatological Association's 2016 consensus on defining and managing skin toxicities from EGFR-TKI treatments, providing comprehensive guidelines for clinicians in Taiwan.
136 citations
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July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified mutations in the FGF5 gene as a cause of extreme eyelash growth in Pakistani families, highlighting a potential target for regulating eyelash growth.
1 citations
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October 2022 in “Biomedicines” This study found that Prdm1 is crucial for whisker development in mice, affecting multiple signaling pathways and possibly playing a role in primates' evolutionary loss of vibrissae.
September 2025 in “Australasian Journal of Dermatology” In this update, researchers incorporated TGA-approved Janus Kinase inhibitors into the Australian treatment guidelines for chronic, moderate to severe Alopecia areata, aiming to enhance recommended therapies by providing guidance on the use and management of these systemic medications.
84 citations
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December 2018 in “Genetics in Medicine” This article reviews evidence- and consensus-based recommendations for using pegvaliase in adults with PKU and reports no new clinical results.
1 citations
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” The researchers reported that repurposing the drug eflornithine may offer a treatment option for Bachmann-Bupp Syndrome, highlighting a potential model for other rare diseases.
2 citations
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December 2022 in “Scientific Data” This study used single-cell ATAC sequencing to map chromatin accessibility in developing mouse hair follicles, offering insights into the transcriptional regulation and epigenetic mechanisms underlying hair follicle development.
June 2007 in “Endocrinology and Metabolism Clinics of North America” This study reports that incomplete information in a reverse supply chain can lead to efficiency losses, but a two-part tariff contract for the remanufacturer may improve performance by eliciting private information from collectors.
4 citations
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November 2017 in “Scientific Reports” This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.
This study found that in men with androgenetic alopecia, elevated triglycerides were the only factor consistently associated with the condition, suggesting a potential link between AGA and lipid metabolism, although other hormonal, metabolic, and sleep factors were not significantly different after propensity score matching.
25 citations
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March 2017 in “Experimental Dermatology” This review discusses various aspects of hair follicle biology and highlights unresolved questions and potential new research avenues, but presents no new experimental findings.
7 citations
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October 2017 in “The Prostate” This study found that male pattern baldness may serve as a clinical marker for circulating sex hormone levels in men with localized prostate cancer, while chest hair density showed no significant hormone association.
4 citations
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January 2019 in “Skin appendage disorders” This study found that Follicular Maps, derived from trichoscopic images, remained consistent over time and unaffected by hair cycling or noncicatricial alopecia, offering a precise tool for diagnosing and monitoring hair and scalp conditions.
June 2026 in “International Journal of Ayurvedic Medicine (Hyderabad)” This study reviewed trichoscopic images to assess hair loss, finding that ayurvedic signs (lakshanas) aligned with modern trichoscopic parameters, potentially aiding accurate diagnosis and management of hair conditions.
June 2026 in “International Journal of Ayurvedic Medicine” In this study, researchers investigated the alignment of trichoscopic findings with ayurvedic signs (lakshanas) for diagnosing hair loss, suggesting that integrating these perspectives could enhance diagnostics and management of hair and scalp conditions.
March 2021 in “Revista Medicina Cutánea Ibero-Latino-Americana” This review discusses diagnostic tools for scarring alopecias, emphasizing trichoscopy as a low-cost, non-invasive method for more accurate diagnosis, although it reports no new clinical results.