Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Carolyn Schanen"'
Publikováno v:
Neurobiology of Disease, Vol 38, Iss 2, Pp 181-191 (2010)
A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disor
Externí odkaz:
https://doaj.org/article/23a8af8d1c8e405d8b3454025caf54f4
Autor:
Jerzy Wegiel, Janusz Frackowiak, Bozena Mazur-Kolecka, N Carolyn Schanen, Edwin H Cook, Marian Sigman, W Ted Brown, Izabela Kuchna, Jarek Wegiel, Krzysztof Nowicki, Humi Imaki, Shuang Yong Ma, Abha Chauhan, Ved Chauhan, David L Miller, Pankaj D Mehta, Michael Flory, Ira L Cohen, Eric London, Barry Reisberg, Mony J de Leon, Thomas Wisniewski
Publikováno v:
PLoS ONE, Vol 7, Iss 5, p e35414 (2012)
BackgroundIt has been shown that amyloid ß (Aβ), a product of proteolytic cleavage of the amyloid β precursor protein (APP), accumulates in neuronal cytoplasm in non-affected individuals in a cell type-specific amount.Methodology/principal finding
Externí odkaz:
https://doaj.org/article/b0b05bdd307f40cfa10a399a7b5dca21
Autor:
Jeffrey L. Neul, Shelly A. Buffington, Mauro Costa-Mattioli, Jonathan K. Merritt, Amanda R. Fisher, José A. Herrera, Meagan R. Pitcher, N. Carolyn Schanen, Mikhail Y. Kochukov
Publikováno v:
Human Molecular Genetics. 24:2662-2672
Rett syndrome (RTT) is a severe neurodevelopmental disorder that is usually caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). Four of the eight common disease causing mutations in MECP2 are nonsense mutations and are responsible for over 3
Autor:
Victoria Brewer, Ronald L. Thibert, Nora Urraca, Kathryn McVicar, N. Carolyn Schanen, Carmen Esmer, Dustin Lamport, Eniko K. Pivnick, Lawrence T. Reiter, Julie Cleary
Publikováno v:
Autism Research
Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and mater
Autor:
Rudolf Jaenisch, Keri Martinowich, Keping Hu, Carolyn Schanen, Qiang Chang, Nicholas E. Sherman, Jifang Tao, Yi E. Sun, Weidong Wang, Robert J. Klose, Hao Wu
Mutations of MECP2 ( Methyl-CpG Binding Protein 2 ) cause Rett syndrome. As a chromatin-associated multifunctional protein, how MeCP2 integrates external signals and regulates neuronal function remain unclear. Although neuronal activity-induced phosp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92dcc30d4f649967963906637344e3e4
https://doi.org/10.1073/pnas.0811648106
https://doi.org/10.1073/pnas.0811648106
Autor:
Samhitha Rai, Jonathan Thaler, Orrin Devinsky, Alison Thaler, Carolyn Schanen, Daniel Friedman, Edwin H. Cook
Publikováno v:
Epilepsybehavior : EB. 61
Purpose To ascertain the cause of mortality and incidence of sudden unexpected death in epilepsy (SUDEP) in patients with supernumerary isodicentric chromosome 15 (idic15). Methods Cases were obtained from those reported to the Dup15q Alliance ( www.
Autor:
Catherine B Kirn-Safran, Sung Ok Yoon, Soonmoon Yoo, Christopher J. Donnelly, N. Carolyn Schanen, Chhavy Tep, Gary J. Bassell, Jeffery L. Twiss, Chunsu Jiang, Dianna E. Willis, Jan van Minnen, Mei Xu, Arthur W. English
Publikováno v:
The EMBO Journal. 30:4665-4677
Subcellular localization of mRNAs is regulated by RNA–protein interactions. Here, we show that introduction of a reporter mRNA with the 3′UTR of β ‐actin mRNA competes with endogenous mRNAs for binding to ZBP1 in adult sensory neurons. ZBP1 is
Publikováno v:
Journal of neurodevelopmental disorders
We report a three generation family in which five members, three females and two males, demonstrate a 44 bp deletion (1164–1207del44) in the MECP2 gene associated with Rett syndrome, leading to a truncation of the C-terminus of the protein. Two of
Publikováno v:
The Journal of Comparative Neurology. 501:526-542
Mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) are the primary cause of the neurodevelopmental disorder Rett syndrome (RTT). Mecp2-deficient mice develop a neurological phenotype that recapitulates many of the symptoms of RTT, in
Autor:
Humi Imaki, Thomas Wisniewski, Izabela Kuchna, Michael Flory, Shuang Yong Ma, Eric London, Krzysztof Nowicki, N. Carolyn Schanen, Jerzy Wegiel, Jarek Wegiel, Edwin H. Cook, W. Ted Brown, Manuel F. Casanova
Publikováno v:
Acta Neuropathologica Communications
Introduction Autism is diagnosed in numerous genetic and genomic developmental disorders associated with an overlap in high-risk genes and loci that underlie intellectual disability (ID) and epilepsy. The aim of this stereological study of neuronal s