2 citations
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October 2023 in “Philosophical transactions - Royal Society. Biological sciences” Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
57 citations
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January 2020 in “International Journal of Molecular Sciences” PADs are crucial for healthy skin and hair, and their imbalance can cause skin and hair disorders.
13 citations
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August 2007 in “Bioorganic & medicinal chemistry letters” A new compound effectively inhibits human 5α-reductase 1.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
March 2025 in “International Journal of Molecular Sciences” PLIN2 affects hair growth in cashmere goats, potentially improving cashmere quality.
47 citations
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April 2012 in “The Plant Journal” Phosphorylation of certain parts of the PIN3 protein is crucial for its role in plant root growth and response to gravity.
30 citations
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October 2020 in “Nature Communications” Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
January 2024 in “Wiadomości Lekarskie” DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
November 2022 in “Journal of Investigative Dermatology” Low oxygen levels affect the behavior of certain proteins in human skin cells.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
25 citations
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February 2021 in “Diabetes” Dock5 is important for skin healing and could help treat diabetic wounds.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
3 citations
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February 2019 in “Animal biotechnology” The PLP2 gene affects cashmere fiber quality in goats and is linked to hair growth and loss.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
April 2026 in “npj Parkinson s Disease” VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
8 citations
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
37 citations
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April 2010 in “FEBS Letters” The study concludes that the EDA2R gene is activated by p53 during chemotherapy but is not necessary for chemotherapy-induced hair loss.
23 citations
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July 2015 in “PubMed” PDGF and its receptors are crucial for stem cell growth and function.
9 citations
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September 2017 in “Journal of Investigative Dermatology Symposium Proceedings” Prostaglandin D2 increases testosterone production in skin cells through a process involving reactive oxygen species, and antioxidants may help treat hair loss.
September 2025 in “Animals” The KRTAP22-2 gene in sheep does not significantly affect wool traits.
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.
January 2024 in “Wiadomości Lekarskie” High PMP 22 levels in type 2 diabetes patients may cause hearing loss.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
April 2018 in “Journal of Investigative Dermatology” People with palmoplantar pustulosis, especially with bone issues, have different mouth bacteria compared to healthy people.
10 citations
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March 2023 in “Journal of Chemistry” New compounds show promise for treating benign prostate hyperplasia with fewer side effects.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The new method found new shared genetic areas linked to both Type 2 Diabetes and Prostate Cancer.
13 citations
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August 1995 in “The Journal of Steroid Biochemistry and Molecular Biology” The activity of a specific rat enzyme in the prostate and epididymis is highly dependent on the acidity level.
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.
31 citations
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June 2017 in “Regeneration” BMP2 needs periosteal tissue to help regenerate mouse middle finger bones within a specific time.