Genetic Analysis Of Families With Schnyder Corneal Dystrophy Identifies UBIAD1, An Enzyme Producing Endogenous Vitamin K, Which Interacts With Enzymes Regulating Cholesterol Synthesis And Storage | 20800
Journal of Clinical & Experimental Ophthalmology
This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)
All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.
Xueting Jin obtained her M.D. from the Medical Center of Fudan University, Shanghai, and qualified as a physician in 2012. During medical school, she participated
in several research projects, mainly focused on the mechanism of atherosclerosis. She is currently a postdoctoral fellow at the National Heart, Lung, and Blood
Institute, NIH, Bethesda, Maryland. Her research interests include disorders of cholesterol metabolism, focused on Schnyder corneal dystrophy and atherosclerosi
Michael L. Nickerson obtained a Ph.D. in Molecular Medicine from the George Washington University and has made significant contributions to the identification
of disease genes, including the Birt-Hogg-Dub? gene in chromophobe kidney cancer, the dead-end gene in testicular cancer, the fumaratehydratase gene in
leiomyomatosis and papillary kidney cancer,andthe UBIAD1 gene in Schnyder Corneal Dystrophy (SCD). He has applied exome sequencing of tumor genomes to
identify TET2 alterations in prostate cancer and BAP1 and CHD1 mutations in bladder cancer. UBIAD1 mutations in over 50 SCD families, and enzyme structure,
function, and binding partners have been published.
Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals