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pro vyhledávání: '"Shank2"'
Akademický článek
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Autor:
David Molina Herranz, Amelia Moreno Sánchez, Gema Carmen Marcén, Belén Salinas Salvador, Raquel Pérez Delgado, Silvia Izquierdo Álvarez
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-6 (2023)
Abstract Background The SHANK gene, located on chromosome 11q13.3-q13.4, encodes the SHANK2 protein with a function in neuronal synapses. An error in coding can alter the development of typical cognitive, linguistic and social skills. However, its al
Externí odkaz:
https://doaj.org/article/3b2a828be25a4ee0b5a27a8405a51847
Publikováno v:
BMC Biology, Vol 21, Iss 1, Pp 1-22 (2023)
Abstract Background SHANKs are major scaffolding proteins at postsynaptic densities (PSDs) in the central nervous system. Mutations in all three family members have been associated with neurodevelopmental disorders such as autism spectrum disorders (
Externí odkaz:
https://doaj.org/article/44649bbd86994de2b05955bbc047914f
Shank2 identifies a subset of glycinergic neurons involved in altered nociception in an autism model
Autor:
Florian Olde Heuvel, Najwa Ouali Alami, Oumayma Aousji, Esther Pogatzki-Zahn, Peter K. Zahn, Hanna Wilhelm, Dhruva Deshpande, Elmira Khatamsaz, Alberto Catanese, Sarah Woelfle, Michael Schön, Sanjay Jain, Stefanie Grabrucker, Albert C. Ludolph, Chiara Verpelli, Jens Michaelis, Tobias M. Boeckers, Francesco Roselli
Publikováno v:
Molecular Autism, Vol 14, Iss 1, Pp 1-22 (2023)
Abstract Background Autism Spectrum Disorders (ASD) patients experience disturbed nociception in the form of either hyposensitivity to pain or allodynia. A substantial amount of processing of somatosensory and nociceptive stimulus takes place in the
Externí odkaz:
https://doaj.org/article/bde43bf68ebe4d2c8f5a05d540104911
Autor:
Ja Eun Choi, Bong-Kiun Kaang
Publikováno v:
Molecular Brain, Vol 16, Iss 1, Pp 1-4 (2023)
Abstract Autism spectrum disorder (ASD) is neuropsychiatric disorder with a gender specific risk. Although social impairment in ASD is one of the well characterized phenotypes, loneliness issue resides in patients with ASD and emerging reports show g
Externí odkaz:
https://doaj.org/article/65e5558749704a3882ac2b36c41d3dc7
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
BackgroundSHANK2 encodes a postsynaptic scaffolding protein involved in synapse formation, stabilization and homeostasis. Variations or microdeletions in the SHANK2 gene have been linked to a variety of neurodevelopmental disorders, including autism
Externí odkaz:
https://doaj.org/article/34aebce8f9b9415abf38e92b697a1e96
Autor:
Shaoyong Song, Weiming Zhao, Yumeng Ji, Qinghong Huang, Yixuan Li, Shiwen Chen, Jianping Yang, Xin Jin
Publikováno v:
Anesthesiology and Perioperative Science, Vol 1, Iss 1, Pp 1-15 (2023)
Abstract Purpose Repeated exposures to sevoflurane could induce epigenetic modifications in specific brain regions and cognitive impairments in the immature mice. Conflicting findings make neurobehavioral manifestations intricate and potential mechan
Externí odkaz:
https://doaj.org/article/41fba10aa9ed46408cb192eb8226bd84
Publikováno v:
Molecular Autism, Vol 13, Iss 1, Pp 1-18 (2022)
Abstract Background A core symptom of autism spectrum disorder (ASD) is repetitive and restrictive patterns of behavior. Cognitive inflexibility has been proposed as a potential basis for these symptoms of ASD. More generally, behavioral inflexibilit
Externí odkaz:
https://doaj.org/article/2305b77dbd0046b3ad0e77dd2b8327d7
Autor:
Yingxiao Shen, Xiaoqin Xu, Jiansong Chen, Jingjing Wang, Guanping Dong, Ke Huang, Junfen Fu, Dingwen Wu, Wei Wu
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
ObjectiveTo explore the genetic etiology of a child with facial dysmorphia, developmental delay, intellectual disability, Fanconi renotubular syndrome, and Chiari malformations.Materials and methodsWhole exome sequencing (WES), Copy number variation
Externí odkaz:
https://doaj.org/article/5eccbb6416e04a408cb6a78f519c23d5
Autor:
Mubashir Ahmad, Nadine Stirmlinger, Irfana Jan, Ulrich Stifel, Sooyeon Lee, Marcel Weingandt, Ulrike Kelp, Jürgen Bockmann, Anita Ignatius, Tobias M. Böckers, Jan Tuckermann
Publikováno v:
JBMR Plus, Vol 7, Iss 2, Pp n/a-n/a (2023)
ABSTRACT Mutations of the postsynaptic scaffold protein Shank2 lead to autism spectrum disorders (ASD). These patients frequently suffer from higher fracture risk. Here, we investigated whether Shank2 directly regulates bone mass. We show that Shank2
Externí odkaz:
https://doaj.org/article/46146bcba9f2479d9d2e4235043799ce