Article

Altered development and network connectivity in a human neuronal model of 15q11.2 deletion-related neurodevelopmental disorders

2024-09-20

Abstract excerpt

The chromosome 15q11.2 locus is deleted in 1.5% of patients with genetic epilepsy and confers a risk for intellectual disability and schizophrenia. Individuals with this deletion demonstrate increased cortical thickness, decreased cortical surface area and white matter abnormalities. Human induced pluripotent stem cell (iPSC)-derived neural progenitor cells (NPC) from 15q11.2 deletion individuals exhibit early adh...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: cafa2c68-b4ca-5798-ba62-daa414dc240d
DOI: 10.1101/2024.09.19.613912

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Altered development and network connectivity in a human neuronal model of 15q11.2 deletion-related neurodevelopmental disordersDOI 10.1101/2024.09.19.613912Read

Hyperexcitable Phenotypes in Induced Pluripotent Stem Cell-Derived Neurons From Patients With 15q11-q13 Duplication Syndrome, a Genetic Form of Autism.Semantic proximity Read

Network effects of the neuropsychiatric 15q13.3 microdeletion on the transcriptome and epigenome in human induced neuronsSemantic proximity Read

Hyperexcitable phenotypes in iPSC-derived neurons from patients with 15q11-q13 duplication syndrome, a genetic form of autismSemantic proximity Read

Alterations in neuronal physiology, development, and function associated with a common duplication of chromosome 15 involving <i>CHRNA7</i>Semantic proximity Read

Human forebrain assembloids modeling a neurodevelopmental disorder reveals neural circuit deficits via DNA damageSemantic proximity Read

Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7.Semantic proximity Read

Genomics of Complex Neurodevelopmental Disorders with Variable Epilepsy Phenotypes: A Clinical Review of Dup15q Syndrome.Semantic proximity Read

SLC35A2 loss of function variants affect glycomic signatures, neuronal fate, and network dynamicsSemantic proximity Read

SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamicsSemantic proximity Read

GABAergic neuron dysregulation in a human neurodevelopmental model for major psychiatric disordersSemantic proximity Read

Duplication Versus Deletion Through the Lens of 15q13.3: Clinical and Research Implications of Studying Copy Number Variants Associated with Neuropsychiatric Disorders in Induced Pluripotent Stem Cell-Derived Neurons.Semantic proximity Read

Functional ultrasound imaging reveals an aberrant developmental trajectory of functional connectivity in a mouse model of the 15q13.3 copy number variant microdeletionSemantic proximity Read