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April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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June 2000 in “Japanese Journal of Cancer Research” Dimethylarsinic acid speeds up skin tumor growth in certain mice.
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May 2023 in “Biochemical and Biophysical Research Communications” Blocking DKK1 with siRNA can improve hair growth.
Suppressing ODC activity reduces tumor growth in hair follicles.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
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February 2021 in “Diabetes” Dock5 is important for skin healing and could help treat diabetic wounds.
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August 2007 in “Journal of Surgical Research” Mice genetically modified to produce more Del1 protein had faster hair regrowth.
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May 2022 in “Cancers” UC.145 may be a new biomarker for predicting gastric cancer.
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February 2019 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” AKR1D1 controls glucocorticoid levels and receptor activity in liver cells.
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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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July 2000 in “Toxicology Letters” K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
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April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
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July 2020 in “Biochemical and Biophysical Research Communications” A protein called ectodysplasin-A2 increases a hair growth inhibitor in balding cells, which could be a target for hair loss treatment.
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
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August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
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