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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 ,

Key brain molecule may play role in many brain disorders


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IMAGE: Right, miRNA29-deficient mice showing a marked increase in the important enzyme DNMT3A (bright light blue).
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Credit: Deshmukh Lab, UNC School of Medicine
CHAPEL HILL, NC - A team led by scientists at the UNC School of Medicine identified a molecule called microRNA-29 as a powerful controller of brain maturation in mammals. Deleting microRNA-29 in mice caused problems very similar to those seen in autism, epilepsy, and other neurodevelopmental conditions.
The results, published in
Cell Reports, illuminate an important process in the normal maturation of the brain and point to the possibility that disrupting this process could contribute to multiple human brain diseases. ....

Matthew Beck , Mayumi Nakamura , Jie Liang , Mohanish Deshmukh , Jeremy Simon , Jiami Guo , Travis Ptacek , Michael Greenberg , Scott Hammond , Sheryl Moy , Emilie Hollville , Vijay Swahari , Charlotte Plestant , Elisa Kurtz , Matt Kanke , Praveen Sethupathy , Hume Stroud , School Of Medicine , Neuroscience Center , Harvard University , Department Of Cell Biology Physiology , Cell Reports , Cell Biology , Cornelius Flowers , மேத்யூ பெக் , ஜிே லியாங் ,