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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
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August 2024 in “Molecular Biology Reports” LncRNA018392 helps goat skin cells grow by increasing CSF1R.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
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October 2011 The updated criteria improve the accuracy of diagnosing lupus.
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September 2017 C-scores can help predict gain-of-function and loss-of-function mutations.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
January 2025 in “Genetics in Medicine Open” A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
September 2023 in “Clinical, cosmetic and investigational dermatology” SLFC can improve scalp health and reduce sensitive scalp symptoms.
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December 1997 in “Mayo Clinic proceedings” Carbamazepine may cause lung problems and lupus-like symptoms, which can improve after stopping the drug.
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October 2025 in “Micromachines” Portable point-of-care testing can improve quick and accurate genetic disorder detection.
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May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
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December 2015 in “Balkan Journal of Medical Genetics” Genetic screening can help diagnose and manage infertility in Slovenian couples.
The protein's size was reduced, but more work is needed to confirm its function.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
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November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
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December 2017 in “Journal of Intensive Care” Lithium poisoning can cause severe health complications and requires careful monitoring.
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January 2014 in “The Korean journal of medicine” The 2012 SLICC criteria provide an updated method for classifying Systemic Lupus Erythematosus.
November 2023 in “Scientific reports” The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.
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July 2017 in “Journal of Medical Case Reports” The 2012 criteria are better for diagnosing atypical lupus cases.
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October 1985 in “Genetics Research” Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
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November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
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January 2024 in “Journal of Cancer” The treatment combination is effective and generally safe for lung cancer.
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September 2005 in “Journal of Cellular Biochemistry” Retinoids increase steroid sulfatase activity in leukemia cells through RARα/RXR and involves certain pathways like phosphoinositide 3-kinase and ERK-MAP kinase.