December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
6 citations
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August 2014 in “Toxicologic pathology” Blocking DGAT1 reduces oil gland size in mice and dogs, but only mice experience hair loss.
6 citations
,
December 2023 in “Journal of Molecular Cell Biology” Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
November 2025 in “Journal of Diabetes Investigation” Dapagliflozin improved blood sugar control in a man with Werner syndrome without side effects.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
2 citations
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July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
67 citations
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December 2013 in “Journal of Biological Chemistry” SCD1 is crucial for skin health and overall energy balance.
26 citations
,
December 2012 in “Bioanalysis” Dried blood spots can be as stable as frozen liquid samples for storing certain metabolites.
2 citations
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February 2019 in “Journal of Investigative Dermatology” Higher levels of the DP2 receptor may lead to hair loss.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
March 2024 in “Cell communication and signaling” Lack of sleep in mice leads to prostatitis by reducing certain hormones and activating an inflammatory pathway, which can be temporarily fixed with normal sleep.
September 2017 in “Journal of Investigative Dermatology Symposium Proceedings” Prostaglandin D2 increases testosterone production in skin cells through a process involving reactive oxygen species, which could be a new target for treating hair loss and other skin conditions driven by testosterone.
May 2026 in “BMC Medicine” ACOD1 deficiency worsens hair loss by causing cell aging and mitochondrial problems, but 4-OI may help.
Blocking 11β-HSD1 reduces stress hormone damage in hair growth cells.
88 citations
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August 2014 in “PLOS genetics” Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
3 citations
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January 2017 in “Yonsei Medical Journal” Blocking 11β-HSD1 can lessen the harmful effects of glucocorticoids on hair growth cells.
40 citations
,
July 2023 in “Clinical Pharmacology & Therapeutics” Targeted protein degraders show promise in treating cancer but need to target more diverse proteins.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
2 citations
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April 2019 in “Journal of Investigative Dermatology” Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
April 2023 in “Journal of Investigative Dermatology” Disrupting a specific protein's function in hair follicle stem cells triggers their activation and a self-healing process.
March 2026 in “Animal Models and Experimental Medicine” Gorab deficiency speeds up skin aging by disrupting protein regulation and reducing collagen.
1 citations
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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.
22 citations
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January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
69 citations
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December 2005 in “Nature Clinical Practice Endocrinology & Metabolism” Blocking the enzyme 11β-HSD1 might help treat obesity and metabolic issues.
4 citations
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November 2022 in “Frontiers in endocrinology” The enzyme 5α-reductase type 1 is important for blood vessel development and fertility in the uterus.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
43 citations
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August 2010 in “Expert Opinion on Investigational Drugs” Inhibitors of 11β-HSD1 show potential for treating type 2 diabetes but require more testing for safety and effectiveness.