199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
5 citations
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January 2020 in “Bioscience Reports” Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
May 2011 in “Journal of Clinical Neuroscience” The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
43 citations
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July 2005 in “Journal of Chromatography B” A new method accurately measures hair lipids, revealing individual differences.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
January 2011 in “Journal of The American Academy of Dermatology” Two patients had a rare combination of red skin spots and white scaly skin lesions not on the genitals.
4 citations
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February 2021 in “Plant journal” OsUEV1B protein is essential for controlling phosphate levels in rice.
12 citations
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March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.