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Finding the balance between lumping and splitting. A response to Martin et al.
Psychol Med
October 2024
School of Computing, Macquarie University, Sydney, Australia.
The dynamic history of prokaryotic phyla: discovery, diversity and division.
Int J Syst Evol Microbiol
September 2024
Norwich Medical School, University of East Anglia, Norwich Research Park, Norwich, Norfolk, UK.
Here, I review the dynamic history of prokaryotic phyla. Following leads set by Darwin, Haeckel and Woese, the concept of phylum has evolved from a group sharing common phenotypes to a set of organisms sharing a common ancestry, with modern taxonomy based on phylogenetic classifications drawn from macromolecular sequences. Phyla came as surprising latecomers to the formalities of prokaryotic nomenclature in 2021.
View Article and Find Full Text PDFNeurodegenerative disorders, metabolic icebergs, and mitohormesis.
Transl Neurodegener
September 2024
Division of Behavioral Medicine, Department of Psychiatry, Columbia University Irving Medical Center, New York, NY, 10032, USA.
Neurodegenerative disorders are typically "split" based on their hallmark clinical, anatomical, and pathological features, but they can also be "lumped" by a shared feature of impaired mitochondrial biology. This leads us to present a scientific framework that conceptualizes Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), and Huntington's disease (HD) as "metabolic icebergs" comprised of a tip, a bulk, and a base. The visible tip conveys the hallmark neurological symptoms, neurodegenerative regions, and neuronal protein aggregates for each disorder.
View Article and Find Full Text PDFImplementation of a dyadic nomenclature for monogenic diseases.
Am J Hum Genet
September 2024
Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA. Electronic address:
Article Synopsis
- Establishing which specific disease entity to focus on is crucial for accurately assessing the relationship between genes and monogenic disorders, influencing the classification of gene-disease validity and variant pathogenicity.* -
- Due to some genes affecting multiple phenotypes, a continuous process of re-evaluating disease names and categories is needed, coordinated by the Disease Naming Advisory Committee (DNAC) formed by ClinGen, Mondo, and OMIM.* -
- The DNAC aims to create consistent guidance for disease naming across various groups, improving communication and standardization in gene-disease research, while addressing existing inconsistencies in the identification of monogenic disorders.*
Investigating the impact of lumping heterogenous conduct problems: aggression and rule-breaking rely on distinct spontaneous brain activity.
Eur Child Adolesc Psychiatry
August 2024
Department of Psychiatry and Addiction, Faculty of medicine, University of Montreal, Montreal, Canada.
Accumulating evidence suggests that aggression and rule-breaking may have distinct origins. However, grouping these heterogeneous behaviors into a single dimension labelled Conduct Problems (CP) has become the norm rather than the exception. Yet, the neurobiological features that differentiate aggression and rule-breaking remain largely unexplored.
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