Zobrazeno 1 - 10
of 478
pro vyhledávání: '"syngap1"'
Autor:
Nadja Bednarczuk, Harriet Housby, Irene O. Lee, IMAGINE Consortium, David Skuse, Jeanne Wolstencroft
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-8 (2024)
Abstract Background SYNGAP1 variants are associated with varying degrees of intellectual disability (ID), developmental delay (DD), epilepsy, autism, and behavioural difficulties. These features may also be observed in other monogenic conditions. The
Externí odkaz:
https://doaj.org/article/6473cb8999fa43759455b64569590fe5
Akademický článek
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Akademický článek
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Publikováno v:
Discover Oncology, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Rectal adenocarcinoma (READ) is a common malignant tumor of the digestive tract. Growing studies have confirmed Ras GTPase-activating proteins are involved in the progression of several tumors. This study aimed to explore the expression and
Externí odkaz:
https://doaj.org/article/bb3552e45d754324b0161a4a234f7a52
Autor:
Sureni H. Sumathipala, Suha Khan, Robert A. Kozol, Yoichi Araki, Sheyum Syed, Richard L. Huganir, Julia E. Dallman
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Background and aimsSYNGAP1-related disorder (SYNGAP1-RD) is a prevalent genetic form of Autism Spectrum Disorder and Intellectual Disability (ASD/ID) and is caused by de novo or inherited mutations in one copy of the SYNGAP1 gene. In addition to ASD/
Externí odkaz:
https://doaj.org/article/92d595eae73145baa1257fac44eb5847
Autor:
Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalo
Externí odkaz:
https://doaj.org/article/166caca1761d48df939f150c72881fb8
Publikováno v:
Frontiers in Psychiatry, Vol 15 (2024)
Autism spectrum disorders represent a diverse etiological spectrum that converge on a syndrome characterized by discrepant deficits in developmental domains often highlighted by concerns in socialization, sensory integration, and autonomic functionin
Externí odkaz:
https://doaj.org/article/d19f421cd9374747b9cd1bb452585cda
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionDevelopmental synaptopathies are neurodevelopmental disorders caused by genetic mutations disrupting the development and function of neuronal synapses.MethodsWe administered the validated Social Responsiveness Scale, Second Edition (SRS-2
Externí odkaz:
https://doaj.org/article/c860f32db76b42a38f7ebdb93044353c
Autor:
Xingying Zeng, Yong Chen, Xiongying Yu, Yuanyuan Che, Hui Chen, Zhaoshi Yi, Jie Qin, Jianmin Zhong
Publikováno v:
Acta Epileptologica, Vol 5, Iss 1, Pp 1-8 (2023)
Abstract Background SYNGAP1 is a significant genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. De novo loss-of-function variants in this gene cause a neurodevelopmental disorder, for example,
Externí odkaz:
https://doaj.org/article/8d90dc4ce1194d3aa8b2c6d111d3a7ed
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Intellectual disability (ID) is defined by cognitive and social adaptation defects. Variants in the SYNGAP1 gene, which encodes the brain-specific cytoplasmic protein SYNGAP1, are commonly associated with ID. The aim of this study was to
Externí odkaz:
https://doaj.org/article/a2b4864f09264c25baa5d39d46352f40