Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

Getting to the cores of autism

LM Iakoucheva, AR Muotri, J Sebat - Cell, 2019 - cell.com
The genetic architecture of autism spectrum disorder (ASD) is itself a diverse allelic
spectrum that consists of rare de novo or inherited variants in hundreds of genes and …

Contrastive machine learning reveals the structure of neuroanatomical variation within autism

A Aglinskas, JK Hartshorne, S Anzellotti - Science, 2022 - science.org
Autism spectrum disorder (ASD) is highly heterogeneous. Identifying systematic individual
differences in neuroanatomy could inform diagnosis and personalized interventions. The …

16p11. 2 copy number variations and neurodevelopmental disorders

B Rein, Z Yan - Trends in neurosciences, 2020 - cell.com
Copy number variations (CNVs) of the human 16p11. 2 genetic locus are associated with a
range of neurodevelopmental disorders, including autism spectrum disorder, intellectual …

Cortical organoids model early brain development disrupted by 16p11. 2 copy number variants in autism

J Urresti, P Zhang, P Moran-Losada, NK Yu… - Molecular …, 2021 - nature.com
Reciprocal deletion and duplication of the 16p11. 2 region is the most common copy number
variation (CNV) associated with autism spectrum disorders. We generated cortical organoids …

[HTML][HTML] Studying human neurological disorders using induced pluripotent stem cells: from 2D monolayer to 3D organoid and blood brain barrier models

S Logan, T Arzua, SG Canfield… - Comprehensive …, 2019 - ncbi.nlm.nih.gov
Neurological disorders have emerged as a predominant healthcare concern in recent years
due to their severe consequences on quality of life and prevalence throughout the world …

Neuronal impact of patient-specific aberrant NRXN1α splicing

E Flaherty, S Zhu, N Barretto, E Cheng, PJM Deans… - Nature …, 2019 - nature.com
NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions
in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human …

The molecular pathology of schizophrenia: An overview of existing knowledge and new directions for future research

T Nakamura, A Takata - Molecular Psychiatry, 2023 - nature.com
Despite enormous efforts employing various approaches, the molecular pathology in the
schizophrenia brain remains elusive. On the other hand, the knowledge of the association …

Natural variation in gene expression and viral susceptibility revealed by neural progenitor cell villages

MF Wells, J Nemesh, S Ghosh, JM Mitchell, MR Salick… - Cell Stem Cell, 2023 - cell.com
Human genome variation contributes to diversity in neurodevelopmental outcomes and
vulnerabilities; recognizing the underlying molecular and cellular mechanisms will require …

16p11. 2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

M Sundberg, H Pinson, RS Smith, KD Winden… - Nature …, 2021 - nature.com
Reciprocal copy number variations (CNVs) of 16p11. 2 are associated with a wide spectrum
of neuropsychiatric and neurodevelopmental disorders. Here, we use human induced …