Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Nycole A. Copping"'
Autor:
Ulrika Beitnere, Brayan Vilanova-Cuevas, Sarah G. Christian, Clint Taylor, Elizabeth L. Berg, Nycole A. Copping, Scott V. Dindot, Jill L. Silverman, Mélanie G. Gareau, David J. Segal
Publikováno v:
mSystems, Vol 8, Iss 1 (2023)
ABSTRACT A large subset of patients with Angelman syndrome (AS) suffer from concurrent gastrointestinal (GI) issues, including constipation, poor feeding, and reflux. AS is caused by the loss of ubiquitin ligase E3A (UBE3A) gene expression in the bra
Externí odkaz:
https://doaj.org/article/603c826aee6f48c298a9ce88f28aaa34
Autor:
Jessica L. Haigh, Anna Adhikari, Nycole A. Copping, Tyler Stradleigh, A. Ayanna Wade, Rinaldo Catta-Preta, Linda Su-Feher, Iva Zdilar, Sarah Morse, Timothy A. Fenton, Anh Nguyen, Diana Quintero, Samrawit Agezew, Michael Sramek, Ellie J. Kreun, Jasmine Carter, Andrea Gompers, Jason T. Lambert, Cesar P. Canales, Len A. Pennacchio, Axel Visel, Diane E. Dickel, Jill L. Silverman, Alex S. Nord
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-22 (2021)
Abstract Background Genes with multiple co-active promoters appear common in brain, yet little is known about functional requirements for these potentially redundant genomic regulatory elements. SCN1A, which encodes the NaV1.1 sodium channel alpha su
Externí odkaz:
https://doaj.org/article/78fe0a2d5b104a109781adedaf6df4e5
Autor:
Sameer C. Dhamne, Jill L. Silverman, Chloe E. Super, Stephen H. T. Lammers, Mustafa Q. Hameed, Meera E. Modi, Nycole A. Copping, Michael C. Pride, Daniel G. Smith, Alexander Rotenberg, Jacqueline N. Crawley, Mustafa Sahin
Publikováno v:
Molecular Autism, Vol 8, Iss 1, Pp 1-19 (2017)
Abstract Background Autism spectrum disorder (ASD) is a clinically and biologically heterogeneous condition characterized by social, repetitive, and sensory behavioral abnormalities. No treatments are approved for the core diagnostic symptoms of ASD.
Externí odkaz:
https://doaj.org/article/cbfc325951d148b3b709fe4711ef7df7
Autor:
Henriette O’Geen, Ulrika Beitnere, Miranda S. Garcia, Anna Adhikari, David L. Cameron, Timothy A. Fenton, Nycole A. Copping, Peter Deng, Samantha Lock, Julian A.N.M. Halmai, Isaac J. Villegas, Jiajian Liu, Danhui Wang, Kyle D. Fink, Jill L. Silverman, David J. Segal
Publikováno v:
Molecular Therapy. 31:1088-1105
Autor:
Jonas J. Calsbeek, Naomi H. Saito, Jill L. Silverman, Danielle J Harvey, Michelle Guignet, Jeremy A. MacMahon, Nycole A. Copping, Donald A. Bruun, Mallory E. Dawson, Pamela J. Lein, Eduardo A. González, Alexandria J. Yu
Publikováno v:
Neurotoxicology
Organophosphate (OP) nerve agents and pesticides are a class of neurotoxic compounds that can cause status epilepticus (SE), and death following acute high-dose exposures. While the standard of care for acute OP intoxication (atropine, oxime, and hig
Publikováno v:
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, vol 18, iss 3
Neurotherapeutics
Neurotherapeutics
Angelman syndrome (AS) is a rare (~1:15,000) neurodevelopmental disorder characterized by severe developmental delay and intellectual disability, impaired communication skills, and a high prevalence of seizures, sleep disturbances, ataxia, motor defi
Autor:
Anna Adhikari, Joseph S. Anderson, David Cameron, Nycole A. Copping, Kyle D. Fink, Henriette O'Geen, David J. Segal, Peter Deng, Julie R. Beegle, Jill L. Silverman
Publikováno v:
Human molecular genetics, vol 30, iss 12
Human Molecular Genetics
Human Molecular Genetics
Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by impaired communication skills, ataxia, motor and balance deficits, intellectual disabilities, and seizures. The genetic cause of AS is the neuronal loss of UBE3A expression
Autor:
Jasmine L Carter, Axel Visel, Jason T Lambert, Andrea Gompers, Anh P Nguyen, Jill L. Silverman, Diana Quintero, Ellie J Kreun, Iva Zdilar, Nycole A. Copping, Cesar P Canales, Rinaldo Catta-Preta, Linda Su-Feher, Alexander Nord, Diane E. Dickel, Michael Sramek, Len A. Pennacchio, Anna Adhikari, Timothy A. Fenton, Tyler W. Stradleigh, A. Ayanna Wade, Sarah J Morse, Jessica L Haigh, Samrawit Agezew
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-22 (2021)
Genome medicine, vol 13, iss 1
Genome Medicine
Genome medicine, vol 13, iss 1
Genome Medicine
BackgroundGenes with multiple co-active promoters appear common in brain, yet little is known about functional requirements for these potentially redundant genomic regulatory elements.SCN1A,which encodes the NaV1.1 sodium channel alpha subunit, is on
Autor:
Anna Adhikari, Fiona K B Buchanan, Timothy A Fenton, David L Cameron, Julian A N M Halmai, Nycole A Copping, Kyle D Fink, Jill L Silverman
Publikováno v:
Human molecular genetics. 31(18)
Many neurodevelopmental disorders (NDDs) are the result of mutations on the X chromosome. One severe NDD resulting from mutations on the X chromosome is CDKL5 deficiency disorder (CDD). CDD is an epigenetic, X-linked NDD characterized by intellectual
Autor:
Jill L. Silverman, Nycole A. Copping
Publikováno v:
Molecular Autism
Molecular autism, vol 12, iss 1
Molecular Autism, Vol 12, Iss 1, Pp 1-14 (2021)
Molecular autism, vol 12, iss 1
Molecular Autism, Vol 12, Iss 1, Pp 1-14 (2021)
Background Angelman Syndrome (AS) is a rare genetic disorder characterized by impaired communication, motor and balance deficits, intellectual disabilities, recurring seizures and abnormal sleep patterns. The genetic cause of AS is neuronal-specific