An evolutionary perspective on complex neuropsychiatric disease
The forces of evolution—mutation, selection, migration, and genetic drift—shape the genetic
architecture of human traits, including the genetic architecture of complex neuropsychiatric …
architecture of human traits, including the genetic architecture of complex neuropsychiatric …
Applying single-cell and single-nucleus genomics to studies of cellular heterogeneity and cell fate transitions in the nervous system
Single-cell and single-nucleus genomic approaches can provide unbiased and multimodal
insights. Here, we discuss what constitutes a molecular cell atlas and how to leverage single …
insights. Here, we discuss what constitutes a molecular cell atlas and how to leverage single …
Developmental mosaicism underlying EGFR-mutant lung cancer presenting with multiple primary tumors
Although the development of multiple primary tumors in smokers with lung cancer can be
attributed to carcinogen-induced field cancerization, the occurrence of multiple tumors at …
attributed to carcinogen-induced field cancerization, the occurrence of multiple tumors at …
Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR
Lesional focal epilepsy (LFE) is a common and severe seizure disorder caused by
epileptogenic lesions, including malformations of cortical development (MCD) and low …
epileptogenic lesions, including malformations of cortical development (MCD) and low …
Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes
Germline mutations modulate the risk of develo** schizophrenia (SCZ). Much less is
known about the role of mosaic somatic mutations in the context of SCZ. Deep (239×) whole …
known about the role of mosaic somatic mutations in the context of SCZ. Deep (239×) whole …
Somatic mosaicism in focal epilepsies
S Gooley, P Perucca, C Tubb… - Current Opinion in …, 2024 - journals.lww.com
Somatic mosaicism in focal epilepsies : Current Opinion in Neurology Somatic mosaicism in
focal epilepsies : Current Opinion in Neurology Log in or Register Subscribe to journalSubscribe …
focal epilepsies : Current Opinion in Neurology Log in or Register Subscribe to journalSubscribe …
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease
Abstract Creutzfeldt–Jakob Disease (CJD), the most common human prion disease, is
associated with pathologic misfolding of the prion protein (PrP), encoded by the PRNP gene …
associated with pathologic misfolding of the prion protein (PrP), encoded by the PRNP gene …
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 …
Ribosomal S6 kinase signaling regulates neuronal viability during development and confers resistance to excitotoxic cell death in mature neurons
KR Hoyt, P Horning, PG Ang, K Karelina, K Obrietan - Neuroscience, 2024 - Elsevier
Abstract The Ribosomal S6 Kinase (RSK) family of serine/threonine kinases function as key
downstream effectors of the MAPK signaling cascade. In the nervous system, RSK signaling …
downstream effectors of the MAPK signaling cascade. In the nervous system, RSK signaling …
A deep‐learning‐based histopathology classifier for focal cortical dysplasia (FCD) unravels a complex scenario of comorbid FCD subtypes
J Vorndran, I Blümcke - Epilepsia, 2024 - Wiley Online Library
Objective Recently, we developed a first artificial intelligence (AI)‐based digital pathology
classifier for focal cortical dysplasia (FCD) as defined by the ILAE classification. Herein, we …
classifier for focal cortical dysplasia (FCD) as defined by the ILAE classification. Herein, we …