Congenital heart disease and neurodevelopment: clinical manifestations, genetics, mechanisms, and implications

SN Nattel, L Adrianzen, EC Kessler… - Canadian Journal of …, 2017 - Elsevier
Children with congenital heart disease (CHD) are at increased risk of neurodevelopmental
disorders (NDDs) and psychiatric conditions. These include cognitive, adaptive, motor …

Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on Genetics

I Giegling, L Hosak, R Mössner, A Serretti… - The world journal of …, 2017 - Taylor & Francis
Objectives: Schizophrenia is a severe psychiatric disease affecting about 1% of the general
population. The relative contribution of genetic factors has been estimated to be up to 80 …

SZDB: a database for schizophrenia genetic research

Y Wu, YG Yao, XJ Luo - Schizophrenia bulletin, 2017 - academic.oup.com
Schizophrenia (SZ) is a debilitating brain disorder with a complex genetic architecture.
Genetic studies, especially recent genome-wide association studies (GWAS), have identified …

[HTML][HTML] Transcriptome sequencing study implicates immune-related genes differentially expressed in schizophrenia: new data and a meta-analysis

AR Sanders, EI Drigalenko, J Duan, W Moy… - Translational …, 2017 - nature.com
We undertook an RNA sequencing (RNAseq)-based transcriptomic profiling study on
lymphoblastoid cell lines of a European ancestry sample of 529 schizophrenia cases and …

NDE1 and NDEL1 from genes to (mal) functions: parallel but distinct roles impacting on neurodevelopmental disorders and psychiatric illness

NJ Bradshaw, MAF Hayashi - Cellular and molecular life sciences, 2017 - Springer
Abstract NDE1 (Nuclear Distribution Element 1, also known as NudE) and NDEL1 (NDE-
Like 1, also known as NudEL) are the mammalian homologues of the fungus nudE gene …

[HTML][HTML] Copy number variants in Alzheimer's disease

D Cuccaro, EV De Marco, R Cittadella… - Journal of Alzheimer's …, 2017 - content.iospress.com
Alzheimer's disease (AD) is a devastating disease mainly afflicting elderly people,
characterized by decreased cognition, loss of memory, and eventually death. Although risk …

[HTML][HTML] Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder

A Hnoonual, W Thammachote, T Tim-Aroon… - Scientific reports, 2017 - nature.com
Chromosomal microarray (CMA) is now recognized as the first-tier genetic test for detection
of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims …

[HTML][HTML] Potential value of genomic copy number variations in schizophrenia

C Zhuo, W Hou, C Lin, L Hu, J Li - Frontiers in molecular neuroscience, 2017 - frontiersin.org
Schizophrenia is a devastating neuropsychiatric disorder affecting approximately 1% of the
global population, and the disease has imposed a considerable burden on families and …

[HTML][HTML] The RNA-binding protein MARF1 promotes cortical neurogenesis through its RNase activity domain

Y Kanemitsu, M Fujitani, Y Fujita, S Zhang, YQ Su… - Scientific Reports, 2017 - nature.com
Cortical neurogenesis is a fundamental process of brain development that is
spatiotemporally regulated by both intrinsic and extrinsic cues. Although recent evidence …

[HTML][HTML] Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

L Tan, B Bi, P Zhao, X Cai, C Wan, J Shao, X He - BMC medical genetics, 2017 - Springer
Background Microcephaly is a disorder characterized by severe impairment in brain
development, reduced brain and head size. Congenital severe microcephaly is very rare …