4 citations
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December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
This study developed a high-performance deep learning model using the Inception-ResNet v2 architecture to classify 10 hair disease classes, achieving an accuracy of 94.7% and balanced precision, recall, and F1-scores of 0.94, suggesting reliability for automated dermatology diagnostics.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
130 citations
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April 2001 in “Journal of Investigative Dermatology” This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
10 citations
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March 2024 in “Endocrine Reviews” In this retrospective review, the author discusses key discoveries in understanding androgen excess disorders like PCOS, focusing on genetic and molecular insights gained from 1965 to 2015.