Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders
S Bizzotto, CA Walsh - Nature Reviews Neuroscience, 2022 - nature.com
Genetic mosaicism is the result of the accumulation of somatic mutations in the human
genome starting from the first postzygotic cell generation and continuing throughout the …
genome starting from the first postzygotic cell generation and continuing throughout the …
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 …
schizophrenia brain remains elusive. On the other hand, the knowledge of the association …
Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar …
M Nishioka, J Takayama, N Sakai, A Kazuno… - Molecular …, 2023 - nature.com
Bipolar disorder (BD) is a global medical issue, afflicting around 1% of the population with
manic and depressive episodes. Despite various genetic studies, the genetic architecture …
manic and depressive episodes. Despite various genetic studies, the genetic architecture …
Ultra‐Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II
Objective Brain somatic mutations in mTOR pathway genes are a major genetic etiology of
focal cortical dysplasia type II (FCDII). Despite a greater ability to detect low‐level somatic …
focal cortical dysplasia type II (FCDII). Despite a greater ability to detect low‐level somatic …
Neurotrophin crosstalk in the etiology and treatment of neuropsychiatric and neurodegenerative disease
R Joshi, SRJ Salton - Frontiers in Molecular Neuroscience, 2022 - frontiersin.org
This article reviews the current progress in our understanding of the mechanisms by which
growth factors, including brain-derived neurotrophic factor (BDNF) and vascular endothelial …
growth factors, including brain-derived neurotrophic factor (BDNF) and vascular endothelial …
Somatic Mosaicism in Brain Disorders
RR Corrigan, LM Mashburn-Warren… - Annual Review of …, 2024 - annualreviews.org
Research efforts over the past decade have defined the genetic landscape of somatic
variation in the brain. Neurons accumulate somatic mutations from development through …
variation in the brain. Neurons accumulate somatic mutations from development through …
Single-neuron whole genome sequencing identifies increased somatic mutation burden in Alzheimer's disease related genes
Z Li, S Min, N Alliey-Rodriguez, G Giase, L Cheng… - Neurobiology of …, 2023 - Elsevier
Accumulation of somatic mutations in human neurons is associated with aging and
neurodegeneration. To shed light on the somatic mutational burden in Alzheimer's disease …
neurodegeneration. To shed light on the somatic mutational burden in Alzheimer's disease …
Next-Generation Sequencing Methodologies to Detect Low-Frequency Mutations:“Catch Me If You Can”
Mutations, the irreversible changes in an organism's DNA sequence, are present in tissues
at a variant allele frequency (VAF) ranging from~ 10-8 per bp for a founder mutation to~ 10-3 …
at a variant allele frequency (VAF) ranging from~ 10-8 per bp for a founder mutation to~ 10-3 …
Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes
IB Kim, MH Kim, S Jung, WK Kim, J Lee, YS Ju… - … & Molecular Medicine, 2024 - nature.com
Low-level somatic mutations in the human brain are implicated in various neurological
disorders. The contribution of low-level brain somatic mutations to autism spectrum disorder …
disorders. The contribution of low-level brain somatic mutations to autism spectrum disorder …
L1 Retrotransposons: a potential endogenous regulator for schizophrenia
M Jahangir, L Li, JS Zhou, B Lang, XP Wang - Frontiers in Genetics, 2022 - frontiersin.org
The long interspersed nuclear elements 1 (LINE-1/L1s) are the only active autonomous
retrotransposons found in humans which can integrate anywhere in the human genome …
retrotransposons found in humans which can integrate anywhere in the human genome …