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Plural molecular and cellular mechanisms of pore domain encephalopathy.
Elife
January 2025
Department of Neurology, Baylor College of Medicine, Houston, United States.
Article Synopsis
- Variants associated with neurodevelopmental impairments in children are complex and challenging to evaluate due to their diverse nature and unclear causes.
- The study highlights a case of a child with neonatal-onset epilepsy and a specific genetic variant (G256W) that impacts ion channel function and leads to reduced cell stability and conduction in nervous tissue.
- The research also establishes a mouse model that exhibits epilepsy and hyperexcitability in brain cells, linking the genetic variant to observable neurological behaviors and suggesting potential wider implications for understanding similar conditions in other patients.
Genome-scale evolution in local populations of wild chimpanzees.
Sci Rep
January 2025
Laboratory for Regenerative Biology, National Institute for Basic Biology, Okazaki, Aichi, Japan.
Analysis of genome-scale evolution has been difficult in large, endangered animals because opportunities to collect high-quality genetic samples are limited. There is a need for novel field-friendly, cost-effective genetic techniques. This study conducted an exome-wide analysis of a total of 42 chimpanzees (Pan troglodytes) across six African regions, providing insights into population discrimination techniques.
View Article and Find Full Text PDFCongress of Neurological Surgeons systematic review and evidence based guideline on neuropathology for WHO grade II diffuse glioma: update.
J Neurooncol
January 2025
Department of Neurosurgery, NYU Langone Health and NYU Grossman School of Medicine, 530 1st Avenue, Skirball Suite 8R, New York, NY, 10016, USA.
Unlabelled: QUESTIONS AND RECOMMENDATIONS FROM THE PRIOR VERSION OF THESE GUIDELINES WITHOUT CHANGE: TARGET POPULATION: Adult patients (age ≥ 18 years) who have suspected low-grade diffuse glioma.
Question: What are the optimal neuropathological techniques to diagnose low-grade diffuse glioma in the adult?
Recommendation: Level I Histopathological analysis of a representative surgical sample of the lesion should be used to provide the diagnosis of low-grade diffuse glioma. Level III Both frozen section and cytopathologic/smear evaluation should be used to aid the intra-operative assessment of low-grade diffuse glioma diagnosis.
First microsatellite markers for the Amazonian species Copaifera multijuga Hayne developed using next-generation sequencing.
Mol Biol Rep
December 2024
Laboratório de Biologia Molecular (LBM), Centro de Bionegócios da Amazônia (CBA), Manaus, Amazonas, Brazil.
Background: Native to the Amazon region, Copaifera multijuga Hayne is a large tree (≈ 36 m in height) that is heavily exploited for extraction of its oleoresin. Many studies have addressed the phytochemical properties and applications of this raw material; however, there are few initiatives that have focused on the genetic characterization of native populations of this species. To this end, our objective was to develop microsatellite markers for C.
View Article and Find Full Text PDFGeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries.
Database (Oxford)
December 2024
The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.
Originally developed to meet the challenges of genomic data deluge, GeniePool emerged as a pioneering platform, enabling efficient storage, accessibility, and analysis of vast genomic datasets, enabled due to its data lake architecture. Building on this foundation, GeniePool 2.0 advances genomic analysis through the integration of cutting-edge variant databases, such as CHM13-T2T, AlphaMissense, and gnomAD V4, coupled with the capability for variant co-occurrence queries.
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