Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Jon M Madison"'
Autor:
Steven D Sheridan, Kraig M Theriault, Surya A Reis, Fen Zhou, Jon M Madison, Laurence Daheron, Jeanne F Loring, Stephen J Haggarty
Publikováno v:
PLoS ONE, Vol 6, Iss 10, p e26203 (2011)
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. In addition to cognitive deficits, FXS patients exhibit hyperactivity, attention deficits, social difficulties, anxiety, and other autistic-like behaviors. FXS is
Externí odkaz:
https://doaj.org/article/48ed35ad25974a35a18519db223cf356
Autor:
Jon M. Madison, Karen Duong, Ellen F. Vieux, Namrata D. Udeshi, Sumaiya Iqbal, Elise Requadt, Shaunt Fereshetian, Michael C. Lewis, Antonio S. Gomes, Kerry A. Pierce, Randall J. Platt, Feng Zhang, Arthur J. Campbell, Dennis Lal, Florence F. Wagner, Clary B. Clish, Steven A. Carr, Morgan Sheng, Edward M. Scolnick, Jeffrey R. Cottrell
Publikováno v:
iScience, Vol 24, Iss 1, Pp 101935- (2021)
Summary: Genetic variation of the 16p11.2 deletion locus containing the KCTD13 gene and of CUL3 is linked with autism. This genetic connection suggested that substrates of a CUL3-KCTD13 ubiquitin ligase may be involved in disease pathogenesis. Compar
Externí odkaz:
https://doaj.org/article/02815da01a7f40da86fd1e72b7901ade
Autor:
Anne M. Bara, Dane Z. Hazelbaker, Ellen J. Guss, Roy H. Perlis, Mitja I. Kurki, Steven E. Hyman, Aarno Palotie, Ralda Nehme, Aditi Trehan, Rolf Adolfsson, Mykyta Artomov, Bruce M. Cohen, Christina Lilliehook, Amanda Beccard, Emanuela Zuccaro, Mark J. Daly, Rhea Malik, Joao A. Paulo, Wade Harper, Lindy E. Barrett, Danielle Manning, Christina Bell, Jon M. Madison, Neale Bm, Donna L. McPhie, Olli Pietilainen, Derek Hawes, Kevin Eggan, Anna Neumann, Matthew Tegtmeyer, John D. Sherwood, Emily Peirent, Andrea Ganna, Vera Valakh, Eija Hämäläinen, Christina M. Hultman, Anna K. Kähler, Alexander A. Loboda, Samouil L. Farhi, Tarjinder Singh, Steven A. McCarroll, Giulio Genovese, Ricardo E. Dolmetsch, Outi Kuismin
To study how the 22q11.2 deletion predisposes to psychiatric disease, we generated induced pluripotent stem cells from deletion carriers and controls, as well as utilized CRISPR/Cas9 to introduce the heterozygous deletion into a control cell line. Up
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0442f49e59d92961d15445baa72af0af
https://doi.org/10.1101/2021.09.22.461360
https://doi.org/10.1101/2021.09.22.461360
Autor:
Jon M. Madison, Patrick K. McCamphill, David C. Stoppel, Xi Shi, Michael C. Lewis, Katie A. Collins, Mark F. Bear, Florence F. Wagner, Edward M. Scolnick, Vinay Sridhar, Rebecca K Senter, Kimberly M. Huber, Jen Q. Pan, Arnold J. Heynen, Jeffrey R. Cottrell, Laura J. Stoppel, Edward B. Holson
Publikováno v:
Sci Transl Med
PMC
PMC
Copyright © 2020 The Authors, some rights reserved. Fragile X syndrome is caused by FMR1 gene silencing and loss of the encoded fragile X mental retardation protein (FMRP), which binds to mRNA and regulates translation. Studies in the Fmr1-/y mouse
Autor:
Clary B. Clish, Sumaiya Iqbal, Dennis Lal, Karen Duong, Namrata D. Udeshi, Arthur J. Campbell, Edward M. Scolnick, Kerry A. Pierce, Feng Zhang, Michael C. Lewis, Jon M. Madison, Antonio S. Gomes, Florence F. Wagner, Randall Jeffrey Platt, Jeffrey R. Cottrell, Morgan Sheng, Ellen F. Vieux, Shaunt Fereshetian, Steven A. Carr, Elise Requadt
Publikováno v:
iScience
iScience, Vol 24, Iss 1, Pp 101935-(2021)
iScience, Vol 24, Iss 1, Pp 101935-(2021)
Summary Genetic variation of the 16p11.2 deletion locus containing the KCTD13 gene and of CUL3 is linked with autism. This genetic connection suggested that substrates of a CUL3-KCTD13 ubiquitin ligase may be involved in disease pathogenesis. Compari
Autor:
Lindy E. Barrett, John L. Sherwood, Rolf Adolfsson, Stephen J. Haggarty, Davide Cacchiarelli, Ying Zang, Olli Pietilainen, Sulagna Ghosh, Guoping Feng, Francesco Limone, Ralda Nehme, Emanuela Zuccaro, Alexander Meissner, Matthias Müller, Kathleen A. Worringer, Chenchen Li, Jon M. Madison, Kevin Eggan, Zhanyan Fu, Paola Arlotta, Sravya Kommineni
Publikováno v:
Elsevier
Cell Reports, Vol 23, Iss 8, Pp 2509-2523 (2018)
Cell reports
Cell Reports
Cell Reports, Vol 23, Iss 8, Pp 2509-2523 (2018)
Cell reports
Cell Reports
SUMMARY Transcription factor programming of pluripotent stem cells (PSCs) has emerged as an approach to generate human neurons for disease modeling. However, programming schemes produce a variety of cell types, and those neurons that are made often r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c234acc62b5124d34fca1748593c822b
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-148731
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-148731
Autor:
Frank H. Lau, Pamela Sklar, Stephen J. Haggarty, Samuel A. Rose, Roy H. Perlis, Steven D. Sheridan, Steven A. McCarroll, James Nemesh, Philip A. Wolf, Colm O'Dushlaine, A Hussain, Ralda Nehme, A Nigam, E H Rueckert, Douglas Barker, Daniel M. Fass, M Fleishman, Joey Hsu, Jon M. Madison, Fen Zhou, K van der Ven, Kimberly Chambert, Thomas E. Mullen, Tim Ahfeldt, Laurence Daheron
Publikováno v:
Molecular psychiatry
Bipolar disorder (BD) is a common neuropsychiatric disorder characterized by chronic recurrent episodes of depression and mania. Despite evidence for high heritability of BD, little is known about its underlying pathophysiology. To develop new tools
Autor:
Pamela Sklar, Ozan Alkan, Jon M. Madison, Georgius de Haan, Catherine J. Luce, Melanie P. Leussis, Erin Berry-Scott, David E. Root, Mai Saito, Thomas Serre, Tracey L. Petryshen, Hueihan Jhuang
Publikováno v:
Biological Psychiatry. 73:683-690
Background Ankyrin 3 ( ANK3 ) has been strongly implicated as a risk gene for bipolar disorder (BD) by recent genome-wide association studies of patient populations. However, the genetic variants of ANK3 contributing to BD risk and their pathological
Autor:
Shaun Purcell, Pamela Sklar, Sarah E. Bergen, Kraig M. Theriault, Colm O'Dushlaine, Steven D. Sheridan, Douglas Barker, Catherine J. Luce, E H Rueckert, Jennifer L. Moran, Kimberly Chambert, Douglas M. Ruderfer, Stephen J. Haggarty, Jon M. Madison
Publikováno v:
Molecular psychiatry
Several genome-wide association studies (GWAS) for bipolar disorder (BD) have found a strong association of the Ankyrin3 (ANK3) gene. This association spans numerous linked single nucleotide polymorphisms (SNPs) in a ~250 kb genomic region overlappin
Autor:
John Kim, Annie L. Conery, David J. Simon, Katherine L. Thompson-Peer, Gary Ruvkun, Joshua M. Kaplan, Michael J. Soskis, Jon M. Madison
Publikováno v:
Cell. 133:903-915
SummaryWe show that miR-1, a conserved muscle-specific microRNA, regulates aspects of both pre- and postsynaptic function at C. elegans neuromuscular junctions. miR-1 regulates the expression level of two nicotinic acetylcholine receptor (nAChR) subu