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May 2015 in “PloS one” GALT5 and GALT2 are important for plant growth and development because they help with protein glycosylation.
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
June 2023 in “Medical records-international medical journal” Decreased IGF-1R expression may contribute to sacrococcygeal pilonidal sinus development.
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November 2012 in “Expert Opinion on Therapeutic Patents” The document concludes that research on sulfatase inhibitors should continue due to their potential in treating various diseases, despite some clinical trial failures.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
August 2024 in “Latin American Journal of Development” 5α-reductase enzymes are crucial in certain disorders, and while treatment advances exist, more research on SRD5A3 is needed.
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January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
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June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
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December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
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May 2024 in “New England Journal of Medicine” Ruxolitinib may effectively treat APS-1 by reducing harmful immune responses.
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January 2017 in “Journal of Endocrinology/Journal of endocrinology” Female mice with disrupted 5α-reductase 1 had significant metabolic issues, including stress response problems, insulin resistance, liver fat buildup, and obesity.
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October 2025 in “Cancer” PROTACs offer a new, precise way to treat cancer by breaking down harmful proteins.
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
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June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
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November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cystatin M/E helps in the final stages of hair and nail formation by controlling certain enzymes.