Identification of a psychiatric risk gene NISCH at 3p21.1 GWAS locus mediating dendritic spine morphogenesis and cognitive function

Autor: Zhi-Hui Yang, Xin Cai, Zhong-Li Ding, Wei Li, Chu-Yi Zhang, Jin-Hua Huo, Yue Zhang, Lu Wang, Lin-Ming Zhang, Shi-Wu Li, Ming Li, Chen Zhang, Hong Chang, Xiao Xiao

Publikováno v: BMC Medicine, Vol 21, Iss 1, Pp 1-14 (2023)

Abstract Background Schizophrenia and bipolar disorder (BD) are believed to share clinical symptoms, genetic risk, etiological factors, and pathogenic mechanisms. We previously reported that single nucleotide polymorphisms spanning chromosome 3p21.1

Externí odkaz: https://doaj.org/article/87ea1fa31ead4449991435132ff5af5a

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Brpf1 Haploinsufficiency Impairs Dendritic Arborization and Spine Formation, Leading to Cognitive Deficits

Autor: Yan Su, Junhua Liu, Baocong Yu, Ru Ba, Chunjie Zhao

Publikováno v: Frontiers in Cellular Neuroscience, Vol 13 (2019)

Haploinsufficiency of the bromodomain and PHD finger-containing protein 1 (BRPF1) gene causes intellectual disability (ID), which is characterized by impaired intellectual and cognitive function; however, the neurological basis for ID and the neurolo

Externí odkaz: https://doaj.org/article/028aa7bf4ca14580be41960e3381fd4a

Loss of O-GlcNAcylation on MeCP2 at Threonine 203 Leads to Neurodevelopmental Disorders

Autor: Xiaotao Duan, Yan Wu, Zhe Zhao, Liping Chen, Juanxian Cheng, Qian Zhu, Haitao Wu, Ying Li, Ruijing Du, Ming Fan

Publikováno v: Neurosci Bull

Mutations of the X-linked methyl-CpG-binding protein 2 (MECP2) gene in humans are responsible for most cases of Rett syndrome (RTT), an X-linked progressive neurological disorder. While genome-wide screens in clinical trials have revealed several put

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c735004d645d06d1de11638197c6df4
https://doi.org/10.1007/s12264-021-00784-8

A novel microduplication in INPP5A segregates with schizophrenia spectrum disorder in the family of a patient with both childhood onset schizophrenia and autism spectrum disorder

Autor: Małgorzata Drozd, Maria Capovilla, Florence Askenazy, Susanne Thümmler, Arnaud Fernandez, Barbara Bardoni

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2021, 185 (6), pp.1841-1847. ⟨10.1002/ajmg.a.62155⟩

Childhood-Onset Schizophrenia (COS) is a very rare and severe psychiatric disorder defined by adult schizophrenia symptoms occurring before the age of 13. We report a microduplication in the 10q26.3 region including part of the Inositol Polyphosphate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0555bb28c8ad19a5c51a4c4959c55aee
https://doi.org/10.1002/ajmg.a.62155