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August 2020 in “Drug metabolism and drug interactions” The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
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January 2009 in “Epilepsia” Neurosteroid production in the brain may delay seizure onset.
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August 2021 in “Tumor Biology” TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
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November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
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August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
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August 2022 in “Frontiers in Immunology” Psoriasis involves an imbalance between certain immune cells, and targeting these could help restore skin health.
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February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.