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Defective protein folding due to a mutation is key in ANE syndrome.
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
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August 2014 in “Journal of Assisted Reproduction and Genetics” The VEGF +405G allele may increase the risk of PCOS in South Indian women.
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June 2024 in “The Kaohsiung Journal of Medical Sciences” Atg5 can promote tumors when autophagy is deficient but suppresses them under normal conditions.
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Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
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March 2013 in “Gene” A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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