Publications by authors named "D P Hibar"
Article Synopsis
- Subcortical brain structures play a crucial role in various developmental and psychiatric disorders, and a study analyzed brain volumes in 74,898 individuals, identifying 254 genetic loci linked to these volumes, which accounted for up to 35% of variation.
- The research included exploring gene expression in specific neural cell types, focusing on genes involved in intracellular signaling and processes related to brain aging.
- The findings suggest that certain genetic variants not only influence brain volume but also have potential causal links to conditions like Parkinson’s disease and ADHD, highlighting the genetic basis for risks associated with neuropsychiatric disorders.
Article Synopsis
- Subcortical brain structures play a crucial role in various disorders, and a study analyzed the genetic basis of brain volumes in nearly 75,000 individuals of European ancestry, revealing 254 loci linked to these volumes.
- The research identified significant gene expression in neural cells, relating to brain aging and signaling, and found that polygenic scores could predict brain volumes across different ancestries.
- The study highlights genetic connections between brain volumes and conditions like Parkinson's disease and ADHD, suggesting specific gene expression patterns could be involved in neuropsychiatric disorders.
The clinical profiles and outcomes of patients with neurotrophic tropomyosin receptor kinase fusion-positive (NTRK+) solid tumors receiving standard of care other than tropomyosin receptor kinase inhibitor (TRKi) targeted therapy have not been well documented. Here, we describe the clinical characteristics of patients with NTRK+ tumors treated in clinical practice using information from a United States electronic health record-derived clinicogenomic database. We also compared survival outcomes in NTRK+ patients and matched NTRK fusion-negative (NTRK-) patients and investigated the clinical prognostic value of NTRK fusions.
View Article and Find Full Text PDFA systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.
Neuropathol Appl Neurobiol
February 2022
Article Synopsis
- The study investigates the causes of reduced cortical thickness in human epilepsies using brain imaging and gene expression data to understand underlying mechanisms.* -
- Researchers found higher levels of activated microglia and endothelial cells in areas of reduced cortical thickness, both in imaging studies and post-mortem brain tissue from epilepsy patients.* -
- Targeted depletion of activated microglia in a mouse model prevented cortical thinning and neuronal loss, suggesting microglia play a crucial role in these changes, potentially offering new approaches for epilepsy treatment beyond seizure control.*
Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively.
View Article and Find Full Text PDF