36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
7 citations
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May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
30 citations
,
October 1999 in “Differentiation” Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
16 citations
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July 2019 in “Journal of Cellular Biochemistry” Wnt7a protein is crucial for development and tissue maintenance and plays varying roles in diseases and potential treatments.
April 2024 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
January 2008 in “The Year book of endocrinology” Gene variant linked to prostate cancer, hormone levels, and hair loss.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.