Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Susan E Maloney"'
Autor:
Katherine B. McCullough, Amanda Titus, Kate Reardon, Sara Conyers, Joseph D. Dougherty, Xia Ge, Joel R. Garbow, Patricia Dickson, Carla M. Yuede, Susan E. Maloney
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-25 (2024)
Abstract Background Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome B, is a devastating childhood disease. Unfortunately, there are currently no available treatments for MPS IIIB patients. Yet, animal models of lysosomal storage d
Externí odkaz:
https://doaj.org/article/1e7bbcd0e48b4fcbb80760bcf8ba1676
Autor:
Tusar Giri, Susan E. Maloney, Saswat Giri, Young Ah Goo, Jong Hee Song, Minsoo Son, Eric Tycksen, Sara B. Conyers, Annie Bice, Xia Ge, Joel R. Garbow, James D. Quirk, Adam Q. Bauer, Arvind Palanisamy
Publikováno v:
iScience, Vol 27, Iss 2, Pp 108960- (2024)
Summary: Despite six decades of the use of exogenous oxytocin for management of labor, little is known about its effects on the developing brain. Motivated by controversial reports suggesting a link between oxytocin use during labor and autism spectr
Externí odkaz:
https://doaj.org/article/e9e5b58417e84477920ca10e804cdb9a
Autor:
Diana C. Beard, Xiyun Zhang, Dennis Y. Wu, Jenna R. Martin, Alyssa Erickson, Jane Valeriane Boua, Nicole Hamagami, Raylynn G. Swift, Katherine B. McCullough, Xia Ge, Austin Bell-Hensley, Hongjun Zheng, Cory W. Palmer, Nicole A. Fuhler, Austin B. Lawrence, Cheryl A. Hill, Thomas Papouin, Kevin K. Noguchi, Audrey McAlinden, Joel R. Garbow, Joseph D. Dougherty, Susan E. Maloney, Harrison W. Gabel
Publikováno v:
Cell Reports, Vol 42, Iss 11, Pp 113411- (2023)
Summary: Phenotypic heterogeneity in monogenic neurodevelopmental disorders can arise from differential severity of variants underlying disease, but how distinct alleles drive variable disease presentation is not well understood. Here, we investigate
Externí odkaz:
https://doaj.org/article/48fc308841a24ec68b568d4410c3c83e
Autor:
Susan E. Maloney, Dora R. Tabachnick, Christine Jakes, Selma Avdagic, Amy L. Bauernfeind, Joseph D. Dougherty
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract The significance of serotonin (5HT) in mental health is underscored by the serotonergic action of many classes of psychiatric medication. 5HT is known to have a significant role in neurodevelopment, thus 5HT disruption during development may
Externí odkaz:
https://doaj.org/article/ca573cefc6e14130986fd2402e24e331
Autor:
Kellan P. Weston, Xiaoyi Gao, Jinghan Zhao, Kwang-Soo Kim, Susan E. Maloney, Jill Gotoff, Sumit Parikh, Yen-Chen Leu, Kuen-Phon Wu, Marwan Shinawi, Joshua P. Steimel, Joseph S. Harrison, Jason J. Yi
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
UBE3A gene dysregulation is associated with neurodevelopmental disorders, but predicting the function of UBE3A variants remains difficult. The authors use a high-throughput assay to categorize variants by functional activity, and show that UBE3A hype
Externí odkaz:
https://doaj.org/article/558b49ad0b204a65b82f15573d8dfef0
Autor:
Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner, John N. Constantino, Kristen L. Kroll
Publikováno v:
BMC Biology, Vol 19, Iss 1, Pp 1-26 (2021)
Abstract Background Copy number variants (CNVs) linked to genes involved in nervous system development or function are often associated with neuropsychiatric disease. While CNVs involving deletions generally cause severe and highly penetrant patient
Externí odkaz:
https://doaj.org/article/28040e7bbee74beeb05f76bab9132942
Autor:
Rachel M. Rahn, Claire T. Weichselbaum, David H. Gutmann, Joseph D. Dougherty, Susan E. Maloney
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-13 (2021)
Abstract Background Motor deficits such as abnormal gait are an underappreciated yet characteristic phenotype of many neurodevelopmental disorders (NDDs), including Williams Syndrome (WS) and Neurofibromatosis Type 1 (NF1). Compared to cognitive phen
Externí odkaz:
https://doaj.org/article/113254e22cd84fbb8b3e585027d5a6ec
Autor:
Kristina Sakers, Yating Liu, Lorida Llaci, Scott M. Lee, Michael J. Vasek, Michael A. Rieger, Sean Brophy, Eric Tycksen, Renate Lewis, Susan E. Maloney, Joseph D. Dougherty
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Quaking RNA binding protein (QKI) is known for its role in oligodendrocyte maturation. Here, the authors define the QKI targets in the mouse brain and show that loss of QKI disrupts the expression of cell maturation-associated genes in astrocytes in
Externí odkaz:
https://doaj.org/article/4e48d16143194a59a45f452f5de15b87
Autor:
Elena Minakova, Simona Sarafinovska, Marwa O. Mikati, Kia M. Barclay, Katherine B. McCullough, Joseph D. Dougherty, Ream Al-Hasani, Susan E. Maloney
Publikováno v:
Frontiers in Behavioral Neuroscience, Vol 15 (2021)
Nationwide, opioid misuse among pregnant women has risen four-fold from 1999 to 2014, with commensurate increase in neonates hospitalized for neonatal abstinence syndrome (NAS). NAS occurs when a fetus exposed to opioids in utero goes into rapid with
Externí odkaz:
https://doaj.org/article/30ede74ec5c44f74863b4c2ff5870d21
Autor:
Shyam K. Akula, Katherine B. McCullough, Claire Weichselbaum, Joseph D. Dougherty, Susan E. Maloney
Publikováno v:
Brain and Behavior, Vol 10, Iss 6, Pp n/a-n/a (2020)
Abstract Objective Gait irregularities are prevalent in neurodevelopmental disorders (NDDs). However, there is a paucity of information on gait phenotypes in NDD experimental models. This is in part due to the lack of understanding of the normal deve
Externí odkaz:
https://doaj.org/article/be5b9003fdb64e6aa8645370643d7cdd