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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 ,

Scientists publish a how-to guide for creating mouse-human chimeric embryos

Scientists publish a how-to guide for creating mouse-human chimeric embryos
eurekalert.org - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from eurekalert.org Daily Mail and Mail on Sunday newspapers.

New York , United States , Brandonj Marzullo , Boyang Zhang , Aimeeb Stablewski , Hanqin Li , Donalda Yergeau , Houbo Jiang , Buffalo Blue Sky Initiative , Biomedical Sciences , Jacobs School , Department Of Biophysics , Life Sciences , Ub New York State Center , University At Buffalo , Jacobs School Of Medicine , Nature Protocols , Gene Targeting , Transgenic Resource , Roswell Park Comprehensive Care Center , Bioinformatics Core , York State Center , Buffalo Blue Sky , புதியது யார்க் , ஒன்றுபட்டது மாநிலங்களில் , பயங் ஜாங் ,

Scientists find genetic cause, underlying mechanisms of new neurodevelopmental syndrome

Scientists find genetic cause, underlying mechanisms of new neurodevelopmental syndrome
eurekalert.org - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from eurekalert.org Daily Mail and Mail on Sunday newspapers.

Sruthi Dontu , Keith Burridge , Deepa Ajit , 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 , Disease Network ,

Every 'variant of concern' has now been detected in Erie County

Every 'variant of concern' has now been detected in Erie County
buffalo.edu - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from buffalo.edu Daily Mail and Mail on Sunday newspapers.

New York , United States , South Africa , United Kingdom , Erie County , John Tomaszewski , Jennifera Surtees , Department Of Biochemistry , Microbiome Community Of Excellence , Jacobs School , Kaleida Health , Department Of Health , Jacobs School Of Medicine , Centers For Disease , Biomedical Sciences , Anatomical Sciences , Erie County Medical Center , Erie County Public Health Lab , Department Of Pathology , Life Sciences , Ub New York State Center , University At Buffalo , Microbiome Community , Disease Control , Western New York , Gale Burstein ,

QF researchers report largest genetic association study in Middle East

QF researchers report largest genetic association study in Middle East
08 May 2021 - 8:38
Prof Omar Albagha
The Peninsula
Doha: A group of researchers at Qatar Foundation have reported the first and largest genetic association study in the Middle East, that has been published online in Nature Communications a leading a peer-reviewed, open access, scientific journal published by Nature Research.
The study titled “Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits” highlights a vital piece of information wherein now there is a better understanding of the genetic risk factors that are specific to the Arab population, including those that are shared with other ethnicities. ....

Ad Daw Ah , Karsten Suhre , Omar Albagha , Nature Communications , College Of Health , Nature Research , Qatar Genome Research Consortium , Qatar Foundation Qf Hamad Bin Khalifa University , Qatar Foundation , Qf Research , Life Sciences , Qf Qatar Genome Programme , Middle East , Middle Eastern Qatari , Hamad Bin Khalifa University , Weill Cornell Medicine , Qatar Biobank , Precision Medicine , Bioinformatics Core , Genome Research Consortium , Professor Said Ismail , Genome Programme , கார்ஸ்டன் சுறே , இயற்கை தகவல்தொடர்புகள் , கல்லூரி ஆஃப் ஆரோக்கியம் , இயற்கை ஆராய்ச்சி ,