Zobrazeno 1 - 10
of 1 577
pro vyhledávání: '"shank3"'
Autor:
Elizabeth Medina, Michael J. Rempe, Christine Muheim, Hannah Schoch, Kristan Singletary, Kaitlyn Ford, Lucia Peixoto
Publikováno v:
Biology of Sex Differences, Vol 15, Iss 1, Pp 1-11 (2024)
Abstract Background Insomnia is more prevalent in individuals with Autism Spectrum Disorder (ASD), can worsen core-symptoms and reduces quality of life of both individuals and caregivers. Although ASD is four times more prevalent in males than female
Externí odkaz:
https://doaj.org/article/6a22046cde1c4305a7695d4558c7e406
Autor:
Rui Yin, Maxime Wack, Claire Hassen-Khodja, Michael T. McDuffie, Geraldine Bliss, Elizabeth J. Horn, Cartik Kothari, Brittany McLarney, Rebecca Davis, Kristen Hanson, Megan O’Boyle, Catalina Betancur, Paul Avillach
Publikováno v:
Molecular Autism, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3. It is characterized by global developmental delay, intellectual
Externí odkaz:
https://doaj.org/article/6a99ab8229bd44dfa398029474c7791b
Autor:
Zuzana Bačová, Bohumila Jurkovičová-Tarabová, Tomáš Havránek, Denisa Mihalj, Veronika Borbélyová, Zdenko Pirnik, Boris Mravec, Daniela Ostatníková, Ján Bakoš
Publikováno v:
Molecular Brain, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Abnormalities in gamma-aminobutyric acid (GABA)ergic neurotransmission play a role in the pathogenesis of autism, although the mechanisms responsible for alterations in specific brain regions remain unclear. Deficits in social motivation and
Externí odkaz:
https://doaj.org/article/f13ea17d4655435b8646cc83a4e50af7
Autor:
Xingshen Li
Publikováno v:
Discover Psychology, Vol 4, Iss 1, Pp 1-9 (2024)
Abstract Autism Spectrum Disorder (ASD) presents a significant challenge due to its complex genetic basis and associated comorbidities. Among the genes implicated in ASD, SHANK3 has been identified as a critical player, affecting synaptic structure a
Externí odkaz:
https://doaj.org/article/98b8a3691d0349ee825af5e0d4cd9f40
Autor:
Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals
Externí odkaz:
https://doaj.org/article/c7f7dd3f29da4a4e89819f90781e8706
Autor:
Shanshan Wu, Jing Wang, Zicheng Zhang, Xinchen Jin, Yang Xu, Youwen Si, Yixiao Liang, Yueping Ge, Huidong Zhan, Li peng, Wenkai Bi, Dandan Luo, Mengzhu Li, Bo Meng, Qingbo Guan, Jiajun Zhao, Ling Gao, Zhao He
Publikováno v:
Molecular Autism, Vol 15, Iss 1, Pp 1-13 (2024)
Abstract Background SH3 and multiple ankyrin repeat domains protein 3 (SHANK3) monogenic mutations or deficiency leads to excessive stereotypic behavior and impaired sociability, which frequently occur in autism cases. To date, the underlying mechani
Externí odkaz:
https://doaj.org/article/f9fcdf42f0c44ba9a4031e4ad8b9d774
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life. Results The Externally Led Patient-Foc
Externí odkaz:
https://doaj.org/article/c76bfb9944134a169b74eae592f6de97
Akademický článek
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Akademický článek
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Publikováno v:
Molecular Autism, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract Background SHANK3 gene is a highly replicated causative gene for autism spectrum disorder and has been well characterized in multiple Shank3 mutant rodent models. When compared to rodents, domestic dogs are excellent animal models in which t
Externí odkaz:
https://doaj.org/article/c33e2697ba1d414aa5290ce5fc5ff14d