9 citations
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April 1970 in “Biochemical pharmacology” Stilbamidine and hydroxystilbamidine inhibit enzyme release from lysosomes and have effects similar to cortisol and chloroquine.
4 citations
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October 2024 in “Heliyon” CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
June 2025 in “Cell Regeneration” Lack of a certain enzyme causes hair to grey early by damaging stem cells, but an antioxidant can help prevent this.
65 citations
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March 2004 in “Journal of Clinical Investigation” Inhibiting ornithine decarboxylase may help prevent certain skin cancers.
113 citations
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June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
A molecule called α-ketobutyrate was found to extend lifespan and improve aging-related symptoms in worms and mice by activating certain cellular pathways and may help develop anti-aging treatments for humans.
10 citations
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January 2020 in “Acta Neurobiologiae Experimentalis” Valproic acid and crocin together boost cell growth and may help treat nerve injuries.
June 2025 in “Materials Today Bio” CPGel hydrogel heals diabetic wounds effectively in 21 days.
September 2013 in “Science” Transplanted human Olig2+ astroglia may help improve learning and memory after a stroke.
35 citations
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August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
82 citations
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July 2012 in “Brain pathology” High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
1 citations
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May 2025 in “Cell Reports Medicine” RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
4 citations
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August 2025 in “Scientific Reports” Hair analysis can effectively detect diabetes and aging markers.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
52 citations
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May 2011 in “Journal of Neuroendocrinology” PEA boosts allopregnanolone production and reduces oxidative stress in brain cells.
August 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The hexosamine pathway helps protect skin cells from stress and may improve skin and hair health.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
92 citations
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July 2001 in “The FASEB Journal” Overexpressing the glucocorticoid receptor in mice leads to abnormal skin development and reduced inflammation.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
258 citations
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July 2005 in “Journal of lipid research” DGAT1 enzyme helps make diacylglycerols, waxes, and retinyl esters.
January 2024 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
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.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
April 2017 in “Journal of Investigative Dermatology” Researchers created a skin graft that senses blood glucose and could treat diabetes using CRISPR-edited stem cells.
54 citations
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January 1984 in “Molecular and Cellular Biochemistry”