A5065415291- Biochemical Analysis and Sensing Techniques
- PI3K/AKT/mTOR signaling in cancer
- RNA and protein synthesis mechanisms
- Olfactory and Sensory Function Studies
- Functional Brain Connectivity Studies
- Morphological variations and asymmetry
- Genetic Associations and Epidemiology
- Pleistocene-Era Hominins and Archaeology
- Health, Environment, Cognitive Aging
- Hemispheric Asymmetry in Neuroscience
- Multisensory perception and integration
- Genetics and Neurodevelopmental Disorders
- Advanced Chemical Sensor Technologies
- Neuroendocrine Tumor Research Advances
- Congenital Ear and Nasal Anomalies
- Fungal Plant Pathogen Control
- Machine Learning in Bioinformatics
- Aldose Reductase and Taurine
- Signaling Pathways in Disease
- Photochromic and Fluorescence Chemistry
- Autism Spectrum Disorder Research
- Bioinformatics and Genomic Networks
- Color perception and design
- Neuropeptides and Animal Physiology
- Neurogenesis and neuroplasticity mechanisms
Max Planck Institute for Psycholinguistics
2016-2022
Cleveland Clinic Lerner College of Medicine
2011-2021
University of Southern California
2019-2020
Google (United States)
2020
Max Planck Society
2016-2018
Albion College
2015
Cleveland Clinic
2014-2015
Howard Hughes Medical Institute
2014
Cerner (United States)
2014
One of the features that distinguishes modern humans from our extinct relatives and ancestors is a globular shape braincase [1-4]. As endocranium closely mirrors outer brain, these differences might reflect altered neural architecture [4, 5]. However, in absence fossil brain tissue, underlying neuroanatomical changes as well their genetic bases remain elusive. To better understand biological foundations human endocranial shape, we turn to closest relatives: Neandertals. Interbreeding between...
Abstract The Muller F element (4.2 Mb, ~80 protein-coding genes) is an unusual autosome of Drosophila melanogaster; it mostly heterochromatic with a low recombination rate. To investigate how these properties impact the evolution repeats and genes, we manually improved sequence annotated genes on D. erecta, mojavensis, grimshawi elements euchromatic domains from D element. We find that have greater transposon density (25–50%) than reference regions (3–11%). Among elements, has lowest...
PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal-dominant genetic condition underlying a subset of autism spectrum disorder (ASD) with macrocephaly. Caused by germline mutations in PTEN, PHTS also causes increased risks multiple cancers via dysregulation the PI3K and MAPK signaling pathways. Conditional knockout models have shown that neural Pten regulates social behavior, proliferation cell size. Although much known about how intracellular localization cancer lines, we know little...
Significance Our physical senses are separated not only into distinct experiences but also specialized regions within the cerebral cortex. Synesthesia is a neurological phenomenon that causes unusual links between sensory experiences, and its molecular basis completely unknown. We demonstrate three families who experience color when listening to sounds connected by rare genetic variants affecting genes contribute axonogenesis, process essential for neuronal connections across brain regions....
This review summarizes the last decade of work by ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance over 1,400 scientists across 43 countries, studying human brain in health and disease. Building on large-scale genetic studies that discovered first robustly replicated loci associated with metrics, has diversified into 50 working groups (WGs), pooling worldwide data expertise to answer fundamental questions neuroscience, psychiatry, neurology,...
Abstract Structural brain changes along the lineage leading to modern Homo sapiens contributed our distinctive cognitive and social abilities. However, evolutionarily relevant molecular variants impacting key aspects of neuroanatomy are largely unknown. Here, we integrate evolutionary annotations genome at diverse timescales with common variant associations from large-scale neuroimaging genetic screens. We find that alleles evidence recent positive polygenic selection over past 2000–3000...
Synaesthesia is a neurological phenomenon affecting perception, where triggering stimuli (e.g. letters and numbers) elicit unusual secondary sensory experiences colours). Family-based studies point to role for genetic factors in the development of this trait. However, contributions common genomic variation synaesthesia have not yet been investigated. Here, we present SynGenes cohort, largest genotyped collection unrelated people with grapheme-colour (n = 723). has associated range other...
The expansion of the cerebral cortex is one most distinctive changes in evolution human brain. Cortical and related increases cortical folding may have contributed to emergence our capacities for high-order cognitive abilities. Molecular analysis humans, archaic hominins, non-human primates has allowed identification chromosomal regions showing evolutionary at different points phylogenetic history. In this study, we assessed contributions genomic annotations spanning 30 million years sulcal...
Synaesthesia is a neurological phenomenon that can offer an unusually clear window into the factors influencing human sensory perception and range of normal experience [1,2]. Sometimes described as blending senses, where exposure to triggering stimulus (e.g. music letters alphabet) causes immediate additional sensation colours tastes), it has been reported synaesthesia naturally affects 1–4% people [2], different types [3]. These developmental forms are thought involve intertwining innate...
Galanin, one of the most inducible neuropeptides, is widely present in developing brains, and its expression altered by pathologic events (e.g., epilepsy, ischemia, axotomy). The roles galanin brain development under both normal conditions have been hypothesized, but question how involved fetal early postnatal remains largely unanswered. In this study, using granule cell migration cerebellum mice (both sexes) as a model system, we examined role neuronal during after injury. Here show that,...
Abstract Structural brain changes along the lineage that led to modern Homo sapiens have contributed our unique cognitive and social abilities. However, evolutionarily relevant molecular variants impacting key aspects of neuroanatomy are largely unknown. Here, we integrate evolutionary annotations genome at diverse timescales with common variant associations from large-scale neuroimaging genetic screens in living humans, reveal how selective pressures shaped neocortical surface area. We show...
Abstract The expansion of the cerebral cortex is one most distinctive changes in evolution human brain. Cortical and related increases cortical folding may have contributed to emergence our capacities for high-order cognitive abilities. Molecular analysis humans, archaic hominins, non-human primates has allowed identification chromosomal regions showing evolutionary at different points phylogenetic history. In this study, we assessed contributions genomic annotations spanning 30 million...