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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
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July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
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May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
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June 2012 in “Revista da Sociedade Brasileira de Medicina Tropical” A family had a rare fungal infection called white piedra, identified as Trichosporon inkin.
February 2024 in “Planta” TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Different types of PPARγ are found in varying amounts in human skin and its parts, which could affect how skin treatments work.
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
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February 2009 in “Journal of dermatological science” Pitx2 helps outer root sheath cells differentiate but can't start hair growth on its own.
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April 2016 in “PloS one” The KRTAP11-1 gene promoter is crucial for specific expression in sheep wool cortex.
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
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March 2017 in “Journal of cutaneous pathology” Shrinking of oil glands in the skin is a key sign of hair loss linked to TNF inhibitor drugs and may improve if the treatment is stopped.
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May 2019 in “Small ruminant research” Mutations in specific llama genes may affect fiber quality for textiles.
Pygo2 is important for early growth and progression of intestinal tumors, and could be a target for treating cancers with certain mutations.