The multiplex model of the genetics of Alzheimer's disease

R Sims, M Hill, J Williams - Nature neuroscience, 2020‏ - nature.com
Genes play a strong role in Alzheimer's disease (AD), with late-onset AD showing heritability
of 58–79% and early-onset AD showing over 90%. Genetic association provides a robust …

[HTML][HTML] The emerging role of cell-free DNA as a molecular marker for cancer management

AJ Bronkhorst, V Ungerer, S Holdenrieder - Biomolecular detection and …, 2019‏ - Elsevier
An increasing number of studies demonstrate the potential use of cell-free DNA (cfDNA) as a
surrogate marker for multiple indications in cancer, including diagnosis, prognosis, and …

[HTML][HTML] Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration

V Dileep, CA Boix, H Mathys, A Marco, GM Welch… - Cell, 2023‏ - cell.com
Persistent DNA double-strand breaks (DSBs) in neurons are an early pathological hallmark
of neurodegenerative diseases including Alzheimer's disease (AD), with the potential to …

Human glioblastoma arises from subventricular zone cells with low-level driver mutations

JH Lee, JE Lee, JY Kahng, SH Kim, JS Park, SJ Yoon… - Nature, 2018‏ - nature.com
Glioblastoma (GBM) is a devastating and incurable brain tumour, with a median overall
survival of fifteen months,. Identifying the cell of origin that harbours mutations that drive …

The role of adult hippocampal neurogenesis in brain health and disease

T Toda, SL Parylak, SB Linker, FH Gage - Molecular psychiatry, 2019‏ - nature.com
Adult neurogenesis in the dentate gyrus of the hippocampus is highly regulated by a number
of environmental and cell-intrinsic factors to adapt to environmental changes. Accumulating …

[HTML][HTML] Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders

PF Sullivan, DH Geschwind - Cell, 2019‏ - cell.com
Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

Clonal hematopoiesis and evolution to hematopoietic malignancies

RL Bowman, L Busque, RL Levine - Cell stem cell, 2018‏ - cell.com
Clonal hematopoiesis (CH) broadly describes the expansion of a clonal population of blood
cells with one or more somatic mutations. Individuals with CH are at greater risk for …

Genetic insights into the neurodevelopmental origins of schizophrenia

R Birnbaum, DR Weinberger - Nature Reviews Neuroscience, 2017‏ - nature.com
Schizophrenia is a severe neuropsychiatric disorder with a longstanding history of
neurobiological investigation. Although the underlying causal mechanisms remain …

Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy

T Ribierre, A Bacq, F Donneger, M Doladilhe… - Nature …, 2024‏ - nature.com
Cortical malformations such as focal cortical dysplasia type II (FCDII) are associated with
pediatric drug-resistant epilepsy that necessitates neurosurgery. FCDII results from somatic …

Mechanisms of DNA damage‐mediated neurotoxicity in neurodegenerative disease

G Welch, LH Tsai - EMBO reports, 2022‏ - embopress.org
Neurons are highly susceptible to DNA damage accumulation due to their large energy
requirements, elevated transcriptional activity, and long lifespan. While newer research has …