Autism spectrum disorder at the crossroad between genes and environment: contributions, convergences, and interactions in ASD developmental pathophysiology

C Cheroni, N Caporale, G Testa - Molecular autism, 2020 - Springer
The complex pathophysiology of autism spectrum disorder encompasses interactions
between genetic and environmental factors. On the one hand, hundreds of genes …

Guidelines for bioinformatics of single-cell sequencing data analysis in Alzheimer's disease: review, recommendation, implementation and application

M Wang, W Song, C Ming, Q Wang, X Zhou… - Molecular …, 2022 - Springer
Alzheimer's disease (AD) is the most common form of dementia, characterized by
progressive cognitive impairment and neurodegeneration. Extensive clinical and genomic …

Autism genes converge on asynchronous development of shared neuron classes

B Paulsen, S Velasco, AJ Kedaigle, M Pigoni… - Nature, 2022 - nature.com
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …

Proper acquisition of cell class identity in organoids allows definition of fate specification programs of the human cerebral cortex

A Uzquiano, AJ Kedaigle, M Pigoni, B Paulsen… - Cell, 2022 - cell.com
Realizing the full utility of brain organoids to study human development requires
understanding whether organoids precisely replicate endogenous cellular and molecular …

Modelling human blastocysts by reprogramming fibroblasts into iBlastoids

X Liu, JP Tan, J Schröder, A Aberkane, JF Ouyang… - Nature, 2021 - nature.com
Human pluripotent and trophoblast stem cells have been essential alternatives to
blastocysts for understanding early human development 1, 2, 3, 4. However, these simple …

An immunodominant NP105–113-B*07:02 cytotoxic T cell response controls viral replication and is associated with less severe COVID-19 disease

Y Peng, SL Felce, D Dong, F Penkava, AJ Mentzer… - Nature …, 2022 - nature.com
Abstract NP105–113-B* 07: 02-specific CD8+ T cell responses are considered among the
most dominant in SARS-CoV-2-infected individuals. We found strong association of this …

[HTML][HTML] A blood atlas of COVID-19 defines hallmarks of disease severity and specificity

DJ Ahern, Z Ai, M Ainsworth, C Allan, A Allcock… - Cell, 2022 - cell.com
Treatment of severe COVID-19 is currently limited by clinical heterogeneity and incomplete
description of specific immune biomarkers. We present here a comprehensive multi-omic …

Ultra-high-throughput single-cell RNA sequencing and perturbation screening with combinatorial fluidic indexing

P Datlinger, AF Rendeiro, T Boenke, M Senekowitsch… - Nature …, 2021 - nature.com
Cell atlas projects and high-throughput perturbation screens require single-cell sequencing
at a scale that is challenging with current technology. To enable cost-effective single-cell …

UNC93B1 variants underlie TLR7-dependent autoimmunity

C Wolf, EL Lim, M Mokhtari, B Kind, A Odainic… - Science …, 2024 - science.org
UNC93B1 is critical for trafficking and function of nucleic acid–sensing Toll-like receptors
(TLRs) TLR3, TLR7, TLR8, and TLR9, which are essential for antiviral immunity. Overactive …

A reference human induced pluripotent stem cell line for large-scale collaborative studies

CB Pantazis, A Yang, E Lara, JA McDonough… - Cell stem cell, 2022 - cell.com
Human induced pluripotent stem cell (iPSC) lines are a powerful tool for studying
development and disease, but the considerable phenotypic variation between lines makes it …