Getting to the cores of autism
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 …
spectrum that consists of rare de novo or inherited variants in hundreds of genes and …
[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 …
due to their severe consequences on quality of life and prevalence throughout the world …
Neuronal impact of patient-specific aberrant NRXN1α splicing
NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions
in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human …
in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human …
An autaptic culture system for standardized analyses of iPSC-derived human neurons
HJ Rhee, AH Shaib, K Rehbach, CK Lee, P Seif… - Cell reports, 2019 - cell.com
Summary iPSC-derived human neurons are expected to revolutionize studies on brain
diseases, but their functional heterogeneity still poses a problem. Key sources of …
diseases, but their functional heterogeneity still poses a problem. Key sources of …
Systems-wide approaches in induced pluripotent stem cell models
Human induced pluripotent stem cells (iPSCs) provide a renewable supply of patient-
specific and tissue-specific cells for cellular and molecular studies of disease mechanisms …
specific and tissue-specific cells for cellular and molecular studies of disease mechanisms …
Cellular and molecular characterization of multiplex autism in human induced pluripotent stem cell-derived neurons
Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder with
pronounced heritability in the general population. This is largely attributable to the effects of …
pronounced heritability in the general population. This is largely attributable to the effects of …
Comparative psychopharmacology of autism and psychotic-affective disorders suggests new targets for treatment
BJ Crespi - Evolution, medicine, and public health, 2019 - academic.oup.com
The first treatments showing effectiveness for some psychiatric disorders, such as lithium for
bipolar disorder and chlorpromazine for schizophrenia, were discovered by accident …
bipolar disorder and chlorpromazine for schizophrenia, were discovered by accident …
Melanoma progression inhibits pluripotency and differentiation of melanoma-derived iPSCs produces cells with neural-like mixed dysplastic phenotype
E Castro-Pérez, CI Rodríguez, D Mikheil, S Siddique… - Stem cell reports, 2019 - cell.com
Melanomas are known to exhibit phenotypic plasticity. However, the role cellular plasticity
plays in melanoma tumor progression and drug resistance is not fully understood. Here, we …
plays in melanoma tumor progression and drug resistance is not fully understood. Here, we …
Dysregulation of neuron differentiation in an autistic savant with exceptional memory
Autism spectrum disorder (ASD) is a heterogeneous group of complex neurodevelopmental
disorders without a unique or definite underlying pathogenesis. Although savant syndrome …
disorders without a unique or definite underlying pathogenesis. Although savant syndrome …
Atypical neural variability in carriers of 16p11. 2 copy number variants
Copy number variations (CNVs) at the 16p11. 2 chromosomal region are associated with
myriad clinical features including intellectual disability and autism spectrum disorder. The …
myriad clinical features including intellectual disability and autism spectrum disorder. The …