Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
87 citations,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
150 citations,
October 2010 in “The American Journal of Pathology” The document concludes that more research is needed to better understand and treat primary cicatricial alopecias, and suggests a possible reclassification based on molecular pathways.
102 citations,
July 2007 in “Genes & Development” A mother's PPARγ is crucial for preventing harmful milk that can cause inflammation and growth problems in babies.
50 citations,
September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Maintaining the right amount of retinoic acid is crucial for healthy hair and skin.