Zobrazeno 1 - 10
of 194
pro vyhledávání: '"Roger H Reeves"'
Autor:
Dylan C Sarver, Cheng Xu, Susana Rodriguez, Susan Aja, Andrew E Jaffe, Feng J Gao, Michael Delannoy, Muthu Periasamy, Yasuhiro Kazuki, Mitsuo Oshimura, Roger H Reeves, G William Wong
Publikováno v:
eLife, Vol 12 (2023)
The consequences of aneuploidy have traditionally been studied in cell and animal models in which the extrachromosomal DNA is from the same species. Here, we explore a fundamental question concerning the impact of aneuploidy on systemic metabolism us
Externí odkaz:
https://doaj.org/article/3aeea4fdb24949308434aa922bedcafd
Autor:
Yasuhiro Kazuki, Feng J Gao, Yicong Li, Anna J Moyer, Benjamin Devenney, Kei Hiramatsu, Sachiko Miyagawa-Tomita, Satoshi Abe, Kanako Kazuki, Naoyo Kajitani, Narumi Uno, Shoko Takehara, Masato Takiguchi, Miho Yamakawa, Atsushi Hasegawa, Ritsuko Shimizu, Satoko Matsukura, Naohiro Noda, Narumi Ogonuki, Kimiko Inoue, Shogo Matoba, Atsuo Ogura, Liliana D Florea, Alena Savonenko, Meifang Xiao, Dan Wu, Denise AS Batista, Junhua Yang, Zhaozhu Qiu, Nandini Singh, Joan T Richtsmeier, Takashi Takeuchi, Mitsuo Oshimura, Roger H Reeves
Publikováno v:
eLife, Vol 9 (2020)
Animal models of Down syndrome (DS), trisomic for human chromosome 21 (HSA21) genes or orthologs, provide insights into better understanding and treatment options. The only existing transchromosomic (Tc) mouse DS model, Tc1, carries a HSA21 with over
Externí odkaz:
https://doaj.org/article/902bee1fcc954ec09607d3e505b90a1b
Autor:
Mei-Fang Xiao, Desheng Xu, Michael T Craig, Kenneth A Pelkey, Chun-Che Chien, Yang Shi, Juhong Zhang, Susan Resnick, Olga Pletnikova, David Salmon, James Brewer, Steven Edland, Jerzy Wegiel, Benjamin Tycko, Alena Savonenko, Roger H Reeves, Juan C Troncoso, Chris J McBain, Douglas Galasko, Paul F Worley
Publikováno v:
eLife, Vol 6 (2017)
Memory loss in Alzheimer’s disease (AD) is attributed to pervasive weakening and loss of synapses. Here, we present findings supporting a special role for excitatory synapses connecting pyramidal neurons of the hippocampus and cortex with fast-spik
Externí odkaz:
https://doaj.org/article/c08345d0049e4dd1b942103924533d4a
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0146570 (2016)
Down syndrome (DS) is a genetic disorder caused by the presence of an extra copy of human chromosome 21 (Hsa21). People with DS display multiple clinical traits as a result of the dosage imbalance of several hundred genes. While many outcomes of tris
Externí odkaz:
https://doaj.org/article/95600ef8af534e088f7581f303ff9069
Autor:
Randall J Roper, Roger H Reeves
Publikováno v:
PLoS Genetics, Vol 2, Iss 3, p e50 (2006)
Down syndrome is a collection of features that are caused by trisomy for human Chromosome 21. While elevated transcript levels of the more than 350 genes on the chromosome are primarily responsible, it is likely that multiple genetic mechanisms under
Externí odkaz:
https://doaj.org/article/d10fd9dee15c4797b253a7065f185826
Autor:
Feng J. Gao, Donna Klinedinst, Fabian-Xosé Fernandez, Bei Cheng, Alena Savonenko, Benjamin Devenney, Yicong Li, Dan Wu, Martin G. Pomper, Roger H. Reeves
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-21 (2021)
Abstract Down syndrome (DS) is the leading genetic cause of intellectual disability and causes early-onset dementia and cerebellar hypoplasia. The prevalence of attention deficit hyperactivity disorder is elevated in children with DS. The aneuploid D
Externí odkaz:
https://doaj.org/article/5b0f251116f24c7bacbfcf25efeb3f91
Autor:
Marie Moore Channell, Laura J. Mattie, Debra R. Hamilton, George T. Capone, E. Mark Mahone, Stephanie L. Sherman, Tracie C. Rosser, Roger H. Reeves, Luther G. Kalb, The Down Syndrome Cognition Project
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-14 (2021)
Abstract Background There is a high degree of inter- and intra-individual variability observed within the phenotype of Down syndrome. The Down Syndrome Cognition Project was formed to capture this variability by developing a large nationwide database
Externí odkaz:
https://doaj.org/article/3ebfbc62ec7f48ed921216fc0c5c8b2a
Autor:
Cristina E. Trevino, Aaron M. Holleman, Holly Corbitt, Cheryl L. Maslen, Tracie C. Rosser, David J. Cutler, H. Richard Johnston, Benjamin L. Rambo-Martin, Jai Oberoi, Kenneth J. Dooley, George T. Capone, Roger H. Reeves, Heather J. Cordell, Bernard D. Keavney, A. J. Agopian, Elizabeth Goldmuntz, Peter J. Gruber, James E. O’Brien, Douglas C. Bittel, Lalita Wadhwa, Clifford L. Cua, Ivan P. Moskowitz, Jennifer G. Mulle, Michael P. Epstein, Stephanie L. Sherman, Michael E. Zwick
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
Externí odkaz:
https://doaj.org/article/4260a1524f6a4efb8f6fb3dd37c1c861
Autor:
Sarah Edie, Norann A. Zaghloul, Carmen C. Leitch, Donna K. Klinedinst, Janette Lebron, Joey F. Thole, Andrew S. McCallion, Nicholas Katsanis, Roger H. Reeves
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 8, Iss 7, Pp 2215-2223 (2018)
Trisomy for human chromosome 21 (Hsa21) results in Down syndrome (DS), one of the most genetically complex conditions compatible with human survival. Assessment of the physiological consequences of dosage-driven overexpression of individual Hsa21 gen
Externí odkaz:
https://doaj.org/article/6168517f327c468db0ddd5203f20a442
Autor:
Benjamin L. Rambo-Martin, Jennifer G. Mulle, David J. Cutler, Lora J. H. Bean, Tracie C. Rosser, Kenneth J. Dooley, Clifford Cua, George Capone, Cheryl L. Maslen, Roger H. Reeves, Stephanie L. Sherman, Michael E. Zwick
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 8, Iss 1, Pp 105-111 (2018)
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we t
Externí odkaz:
https://doaj.org/article/8f37a331bf2240fa9a20fe92eb8f7945