Zobrazeno 1 - 10
of 852
pro vyhledávání: '"James F, Gusella"'
Autor:
Zachariah L. McLean, Dadi Gao, Kevin Correia, Jennie C. L. Roy, Shota Shibata, Iris N. Farnum, Zoe Valdepenas-Mellor, Marina Kovalenko, Manasa Rapuru, Elisabetta Morini, Jayla Ruliera, Tammy Gillis, Diane Lucente, Benjamin P. Kleinstiver, Jong-Min Lee, Marcy E. MacDonald, Vanessa C. Wheeler, Ricardo Mouro Pinto, James F. Gusella
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Huntington’s disease (HD) is a dominant neurological disorder caused by an expanded HTT exon 1 CAG repeat that lengthens huntingtin’s polyglutamine tract. Lowering mutant huntingtin has been proposed for treating HD, but genetic modifier
Externí odkaz:
https://doaj.org/article/04c90e61e38c4922b3fb3425418eb127
Autor:
Sergey V. Lobanov, Branduff McAllister, Mia McDade-Kumar, G. Bernhard Landwehrmeyer, Michael Orth, Anne E. Rosser, REGISTRY Investigators of the European Huntington’s disease network, Jane S. Paulsen, PREDICT-HD Investigators of the Huntington Study Group, Jong-Min Lee, Marcy E. MacDonald, James F. Gusella, Jeffrey D. Long, Mina Ryten, Nigel M. Williams, Peter Holmans, Thomas H. Massey, Lesley Jones
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract Huntington’s disease is caused by an expanded CAG tract in HTT. The length of the CAG tract accounts for over half the variance in age at onset of disease, and is influenced by other genetic factors, mostly implicating the DNA maintenance
Externí odkaz:
https://doaj.org/article/471abbf3af654a65a0a60f88b8f7af52
Autor:
Elaine T. Lim, Yingleong Chan, Pepper Dawes, Xiaoge Guo, Serkan Erdin, Derek J. C. Tai, Songlei Liu, Julia M. Reichert, Mannix J. Burns, Ying Kai Chan, Jessica J. Chiang, Katharina Meyer, Xiaochang Zhang, Christopher A. Walsh, Bruce A. Yankner, Soumya Raychaudhuri, Joel N. Hirschhorn, James F. Gusella, Michael E. Talkowski, George M. Church
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Cerebral organoids can be used to gain insights into neuropsychiatric disorders. Here the authors carry out RNAseq characterization from organoids derived from donors with autism spectrum disorder to identify associated cell type specific driver gene
Externí odkaz:
https://doaj.org/article/95de5f4e0e584e9ba9efd47fbab020ce
Autor:
Maria Sundberg, Hannah Pinson, Richard S. Smith, Kellen D. Winden, Pooja Venugopal, Derek J. C. Tai, James F. Gusella, Michael E. Talkowski, Christopher A. Walsh, Max Tegmark, Mustafa Sahin
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-20 (2021)
16p11.2 CNVs are associated with neurodevelopmental disorders. Here, the authors show that 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro.
Externí odkaz:
https://doaj.org/article/b6ffb9fd39d845a3b76fce24f582a800
Autor:
Catarina M. Seabra, Tatsiana Aneichyk, Serkan Erdin, Derek J. C. Tai, Celine E. F. De Esch, Parisa Razaz, Yu An, Poornima Manavalan, Ashok Ragavendran, Alexei Stortchevoi, Clemer Abad, Juan I. Young, Patricia Maciel, Michael E. Talkowski, James F. Gusella
Publikováno v:
Molecular Autism, Vol 11, Iss 1, Pp 1-15 (2020)
Abstract Background MBD5, encoding the methyl-CpG-binding domain 5 protein, has been proposed as a necessary and sufficient driver of the 2q23.1 microdeletion syndrome. De novo missense and protein-truncating variants from exome sequencing studies ha
Externí odkaz:
https://doaj.org/article/b709c64d351049a6a80897cdee6396b8
Autor:
Long-Sheng Chang, Janet L Oblinger, Abbi E Smith, Marc Ferrer, Steven P Angus, Eric Hawley, Alejandra M Petrilli, Roberta L Beauchamp, Lars Björn Riecken, Serkan Erdin, Ming Poi, Jie Huang, Waylan K Bessler, Xiaohu Zhang, Rajarshi Guha, Craig Thomas, Sarah S Burns, Thomas S K Gilbert, Li Jiang, Xiaohong Li, Qingbo Lu, Jin Yuan, Yongzheng He, Shelley A H Dixon, Andrea Masters, David R Jones, Charles W Yates, Stephen J Haggarty, Salvatore La Rosa, D Bradley Welling, Anat O Stemmer-Rachamimov, Scott R Plotkin, James F Gusella, Justin Guinney, Helen Morrison, Vijaya Ramesh, Cristina Fernandez-Valle, Gary L Johnson, Jaishri O Blakeley, D Wade Clapp, Synodos for NF2 Consortium
Publikováno v:
PLoS ONE, Vol 16, Iss 7, p e0252048 (2021)
Neurofibromatosis Type 2 (NF2) is an autosomal dominant genetic syndrome caused by mutations in the NF2 tumor suppressor gene resulting in multiple schwannomas and meningiomas. There are no FDA approved therapies for these tumors and their relentless
Externí odkaz:
https://doaj.org/article/d5cdd322a442449ebaffcbfad82ea6a3
Autor:
Emanuela Kerschbamer, Michele Arnoldi, Takshashila Tripathi, Miguel Pellegrini, Samuele Maturi, Serkan Erdin, Elisa Salviato, Francesca Di Leva, Endre Sebestyén, Erik Dassi, Giulia Zarantonello, Matteo Benelli, Eric Campos, M Albert Basson, James F Gusella, Stefano Gustincich, Silvano Piazza, Francesca Demichelis, Michael E Talkowski, Francesco Ferrari, Marta Biagioli
Publikováno v:
Nucleic Acids Research. 50:12809-12828
Disruptive mutations in the chromodomain helicase DNA-binding protein 8 gene (CHD8) have been recurrently associated with autism spectrum disorders (ASDs). Here we investigated how chromatin reacts to CHD8 suppression by analyzing a panel of histone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff7d5442c1d620440897e54d427cc892
https://doi.org/10.1093/nar/gkac1134
https://doi.org/10.1093/nar/gkac1134
Autor:
Kiana Mohajeri, Rachita Yadav, Eva D'haene, Philip M. Boone, Serkan Erdin, Dadi Gao, Mariana Moyses-Oliveira, Riya Bhavsar, Benjamin B. Currall, Kathryn O'Keefe, Nicholas D. Burt, Chelsea Lowther, Diane Lucente, Monica Salani, Mathew Larson, Claire Redin, Olga Dudchenko, Erez Lieberman Aiden, Björn Menten, Derek J.C. Tai, James F. Gusella, Sarah Vergult, Michael E. Talkowski
Publikováno v:
Am J Hum Genet
Point mutations and structural variants that directly disrupt the coding sequence of MEF2C have been associated with a spectrum of neurodevelopmental disorders (NDDs). However, the impact of MEF2C haploinsufficiency on neurodevelopmental pathways and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3302a269894880df0173a1479433c2f
https://doi.org/10.1016/j.ajhg.2022.09.015
https://doi.org/10.1016/j.ajhg.2022.09.015
Autor:
Derek J.C. Tai, Parisa Razaz, Serkan Erdin, Dadi Gao, Jennifer Wang, Xander Nuttle, Celine E. de Esch, Ryan L. Collins, Benjamin B. Currall, Kathryn O’Keefe, Nicholas D. Burt, Rachita Yadav, Lily Wang, Kiana Mohajeri, Tatsiana Aneichyk, Ashok Ragavendran, Alexei Stortchevoi, Elisabetta Morini, Weiyuan Ma, Diane Lucente, Alex Hastie, Raymond J. Kelleher, Roy H. Perlis, Michael E. Talkowski, James F. Gusella
Publikováno v:
Am J Hum Genet
Chromosome 16p11.2 reciprocal genomic disorder, resulting from recurrent copy-number variants (CNVs), involves intellectual disability, autism spectrum disorder (ASD), and schizophrenia, but the responsible mechanisms are not known. To systemically d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aae9372a8a534d712ac1e5725adff28
https://doi.org/10.1016/j.ajhg.2022.08.012
https://doi.org/10.1016/j.ajhg.2022.08.012
Autor:
Juanjuan Li, Junhui Li, Jianguo Li, Hailan Yao, Fang Liu, James F Gusella, Xiaodong Shi, Xiaoli Chen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Abstract Background Pediatric myelodysplastic syndromes (MDS) display clonal genomic instability that can lead to acquisition of other hematological disorders, usually by loss of heterozygosity. Immunodeficiency caused by uniparental disomy (UPD) has
Externí odkaz:
https://doaj.org/article/e5cbd2c2f69643a491adea9f5029a250