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Scientists discover genetic basis and molecular mechanisms of new neurodevelopmental syndrome


Scientists discover genetic basis and molecular mechanisms of new neurodevelopmental syndrome
Scientists at the University of North Carolina at Chapel Hill School of Medicine and colleagues have demonstrated that variants in the SPTBN1 gene can alter neuronal architecture, dramatically affecting their function and leading to a rare, newly defined neurodevelopmental syndrome in children.
Damaris Lorenzo, PhD, assistant professor in the UNC Department of Cell Biology and member of the UNC Neuroscience Center at the UNC School of Medicine, led this research, which was published today in the journal
Nature Genetics. Lorenzo, who is also a member of the UNC Intellectual and Developmental Disabilities Research Center (IDDRC) at the UNC School of Medicine, is the senior author. ....

Sruthi Dontu , Keith Burridge , Deepa Ajit , Emily Henderson , Kathryn Harper , Vann Bennett , Brenda Temple , Keith Breau , Lorena Munoz , Adriana Beltran , Becky Spillmann , Sheryl Moy , Alvaro Beltran , Damaris Lorenzo , Liset Falcon , Simone Afriyie , Reggie Edwards , Richard Cheney , Laura Ranum , Blake Creighton , School Of Medicine , Neuroscience Center , Department Of Cell Biology , Department Of Biochemistry , Department Of Psychiatry , Developmental Disabilities Research Center ,