A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
16 citations
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May 1995 in “Biochemical and Biophysical Research Communications” Both enzyme forms can sulfate minoxidil.
1 citations
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February 1991 in “Journal of Biological Chemistry” 1 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The fer-ts mutation in plants prevents root hair growth at high temperatures.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Gene therapy in mice increased lifespan and improved health without causing cancer.
2 citations
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September 2021 in “F1000Research” The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
12 citations
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September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
January 1990 in “UCL Discovery (University College London)” The guinea pig α-lactalbumin gene was successfully expressed in the mammary glands of transgenic mice.
4 citations
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March 2020 in “JAAD Case Reports” Vitamin B12 deficiency can cause darkening of all nails.
January 2009 in “Xumu shouyi xuebao” Sheep cells were successfully modified to include a spider silk protein gene.
4 citations
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April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
16 citations
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June 2022 in “Evidence-based Complementary and Alternative Medicine” Sterculia villosa and Vernonia patula show potential as antioxidants.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
January 1995 in “Journal of the Society of Cosmetic Chemists” Transglutaminase does not modify human hair.
7 citations
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October 2013 in “Methods in molecular biology” These methods help understand DNA changes in mouse skin.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
January 2024 in “Specialty journal of Pharmacognosy Phytochemistry and Biotechnology” Genetic factors may influence how well valproic acid works and its side effects in epilepsy treatment.
January 2018 in “ScholarWorks @UVM (University of Vermont)” Selenium in proteins helps prevent over-oxidation and supports chemical reversibility.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
45 citations
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January 1977 in “Advances in experimental medicine and biology” Hair follicles have an enzyme that converts arginine to citrulline in proteins.
1 citations
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July 2025 in “Journal of Investigative Dermatology” Increasing m6A levels can improve skin cell growth and wound healing.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
January 2012 in “Zhongguo nongye Kexue” The technology can create transgenic cashmere goats with improved wool quality.
June 2015 in “Han'gug eung'yong saengmyeong hwa haghoeji/Journal of the Korean Society for Applied Biological Chemistry” Some synthesized peptides improved cell growth better than thymosin β4, VEGF, and minoxidil.
3 citations
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August 2023 in “The Journal of Pediatrics” Sodium valproate can rarely cause skin darkening, which may improve after stopping the drug.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
July 2024 in “Journal of Investigative Dermatology” Glutamine helps macrophages reduce inflammation and improve wound healing.