标题
Somatic mosaicism in the diseased brain
作者
关键词
-
出版物
Molecular Cytogenetics
Volume 15, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2022-10-21
DOI
10.1186/s13039-022-00624-y
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The threat of programmed DNA damage to neuronal genome integrity and plasticity
- (2022) Keith W. Caldecott et al. NATURE GENETICS
- Mutational Landscape of Autism Spectrum Disorder Brain Tissue
- (2022) Marc Woodbury-Smith et al. Genes
- Brain somatic mutations as RNA therapeutic targets in neurological disorders
- (2022) Sungyul Lee et al. ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
- Somatic genomic changes in single Alzheimer’s disease neurons
- (2022) Michael B. Miller et al. NATURE
- Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders
- (2022) Sara Bizzotto et al. NATURE REVIEWS NEUROSCIENCE
- COVID-19 and Aging-Related Genome (Chromosome) Instability in the Brain: Another Possible Time-Bomb of SARS-CoV-2 Infection
- (2022) Ivan Y. Iourov et al. Frontiers in Aging Neuroscience
- Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis
- (2022) Svetlana G. Vorsanova et al. Molecular Cytogenetics
- Detection of brain somatic variation in epilepsy‐associated developmental lesions
- (2022) Tracy A. Bedrosian et al. EPILEPSIA
- Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability
- (2022) Taejeong Bae et al. SCIENCE
- Brain Cell Type-Specific Nuclear Proteomics Is Imperative to Resolve Neurodegenerative Disease Mechanisms
- (2022) Ruth S. Nelson et al. Frontiers in Neuroscience
- Systems Cytogenomics: Are We Ready Yet?
- (2021) Ivan Y. Iourov et al. CURRENT GENOMICS
- Turner’s syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis
- (2021) Svetlana G. Vorsanova et al. Molecular Cytogenetics
- Chromosome Instability, Aging and Brain Diseases
- (2021) Ivan Y. Iourov et al. Cells
- Somatic copy number variants in neuropsychiatric disorders
- (2021) Eduardo A Maury et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Genomic Mosaicism Formed by Somatic Variation in the Aging and Diseased Brain
- (2021) Isabel Costantino et al. Genes
- Somatic Mosaicism and Autism Spectrum Disorder
- (2021) Alissa M. D’Gama Genes
- “Amyloid‐beta accumulation cycle” as a prevention and/or therapy target for Alzheimer's disease
- (2020) Chinthalapally V. Rao et al. AGING CELL
- Cellular and genomic approaches for exploring structural chromosomal rearrangements
- (2020) Qing Hu et al. CHROMOSOME RESEARCH
- Contributions of DNA Damage to Alzheimer’s Disease
- (2020) Xiaozeng Lin et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- The X Files: “The Mystery of X Chromosome Instability in Alzheimer’s Disease”
- (2020) Vladan P. Bajic et al. Frontiers in Genetics
- Comprehensive Analysis of Features and Annotations of Pathway Databases
- (2020) Ali Ghulam et al. Current Bioinformatics
- Brain cell somatic gene recombination and its phylogenetic foundations
- (2020) Gwendolyn Kaeser et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Somatic mutations in neurodegeneration: An update
- (2020) Christos Proukakis NEUROBIOLOGY OF DISEASE
- Origins and Consequences of Chromosomal Instability: From Cellular Adaptation to Genome Chaos-Mediated System Survival
- (2020) Christine J. Ye et al. Genes
- The role of somatic mosaicism in brain disease
- (2020) Alexandre Jourdon et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Assessment of somatic single-nucleotide variation in brain tissue of cases with schizophrenia
- (2019) John F. Fullard et al. Translational Psychiatry
- Pathway-based classification of genetic diseases
- (2019) Ivan Y. Iourov et al. Molecular Cytogenetics
- Cytopostgenomics: What is it and how does it work?
- (2019) Ivan Y. Iourov CURRENT GENOMICS
- Somatic mutation that affects transcription factor binding upstream of CD55 in the temporal cortex of a late-onset Alzheimer disease patient
- (2019) Hafdis T Helgadottir et al. HUMAN MOLECULAR GENETICS
- Biological Hallmarks of Cancer in Alzheimer’s Disease
- (2019) Kelly N. H. Nudelman et al. MOLECULAR NEUROBIOLOGY
- Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals
- (2019) Boxun Zhao et al. PLoS Genetics
- Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism
- (2019) Ivan Y. Iourov et al. Genes
- A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II
- (2019) Shanshan Zhao et al. EXPERIMENTAL AND MOLECULAR MEDICINE
- Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation
- (2019) Jun Sung Park et al. Nature Communications
- Somatic mutation: The hidden genetics of brain malformations and focal epilepsies
- (2019) Zimeng Ye et al. EPILEPSY RESEARCH
- Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy
- (2019) Cristiana Pelorosso et al. HUMAN MOLECULAR GENETICS
- Chromosome Instability in the Neurodegenerating Brain
- (2019) Yuri B. Yurov et al. Frontiers in Genetics
- Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study
- (2019) Yanina Ivashko-Pachima et al. MOLECULAR PSYCHIATRY
- What Is Karyotype Coding and Why Is Genomic Topology Important for Cancer and Evolution?
- (2019) Christine J. Ye et al. Frontiers in Genetics
- Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders
- (2019) Huntington Potter et al. Frontiers in Genetics
- The variome concept: focus on CNVariome
- (2019) Ivan Y. Iourov et al. Molecular Cytogenetics
- Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy
- (2018) Melodie R. Winawer et al. ANNALS OF NEUROLOGY
- Somatic copy number gains of α-synuclein (SNCA) in Parkinson’s disease and multiple system atrophy brains
- (2018) Katya Mokretar et al. BRAIN
- Detecting Chromosome Condensation Defects in Gulf War Illness Patients
- (2018) Guo Liu et al. CURRENT GENOMICS
- Behavioral Variability and Somatic Mosaicism: A Cytogenomic Hypothesis
- (2018) Svetlana G. Vorsanova et al. CURRENT GENOMICS
- Mosaic Brain Aneuploidy in Mental Illnesses: An Association of Low-level post-zygotic Aneuploidy with Schizophrenia and Comorbid Psychiatric Disorders
- (2018) Yuri B. Yurov et al. CURRENT GENOMICS
- Genomic mosaicism in the developing and adult brain
- (2018) Suzanne Rohrback et al. Developmental Neurobiology
- Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy
- (2018) Théo Ribierre et al. JOURNAL OF CLINICAL INVESTIGATION
- Cellular senescence in brain aging and neurodegenerative diseases: evidence and perspectives
- (2018) Darren J. Baker et al. JOURNAL OF CLINICAL INVESTIGATION
- Mitotic defects lead to neuronal aneuploidy and apoptosis in frontotemporal lobar degeneration caused by MAPT mutations
- (2018) Julbert Caneus et al. MOLECULAR BIOLOGY OF THE CELL
- Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination
- (2018) Sang Min Park et al. NEURON
- Review: Somatic mutations in neurodegeneration
- (2018) M. Leija-Salazar et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- Region- and Cell-specific Aneuploidy in Brain Aging and Neurodegeneration
- (2018) C.E. Shepherd et al. NEUROSCIENCE
- Neuronal Cell Death
- (2018) Michael Fricker et al. PHYSIOLOGICAL REVIEWS
- Somatic Mutagenesis in Mammals and Its Implications for Human Disease and Aging
- (2018) Lei Zhang et al. Annual Review of Genetics
- Submegabase copy number variations arise during cerebral cortical neurogenesis as revealed by single-cell whole-genome sequencing
- (2018) Suzanne Rohrback et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
- (2018) Gaël Nicolas et al. Alzheimers & Dementia
- Somatic APP gene recombination in Alzheimer’s disease and normal neurons
- (2018) Ming-Hsiang Lee et al. NATURE
- Somatic mosaicism and neurodevelopmental disease
- (2018) Alissa M. D’Gama et al. NATURE NEUROSCIENCE
- STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets
- (2018) Damian Szklarczyk et al. NUCLEIC ACIDS RESEARCH
- Validation of Suspected Somatic Single Nucleotide Variations in the Brain of Alzheimer’s Disease Patients
- (2017) Alberto Gomez-Ramos et al. JOURNAL OF ALZHEIMERS DISEASE
- The DNA Damage Response in Neurons: Die by Apoptosis or Survive in a Senescence-Like State?
- (2017) Edward Fielder et al. JOURNAL OF ALZHEIMERS DISEASE
- Is sporadic Alzheimer′s disease a developmental disorder?
- (2017) Thomas Arendt et al. JOURNAL OF NEUROCHEMISTRY
- Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain
- (2017) Grasiella A. Andriani et al. MECHANISMS OF AGEING AND DEVELOPMENT
- Genome instability in Alzheimer disease
- (2017) Yujun Hou et al. MECHANISMS OF AGEING AND DEVELOPMENT
- Overexpression of LINE-1 Retrotransposons in Autism Brain
- (2017) Svitlana Shpyleva et al. MOLECULAR NEUROBIOLOGY
- Analysis of LINE-1 Elements in DNA from Postmortem Brains of Individuals with Schizophrenia
- (2017) Glenn A Doyle et al. NEUROPSYCHOPHARMACOLOGY
- Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
- (2017) Michael J. McConnell et al. SCIENCE
- Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias
- (2017) Alissa M. D’Gama et al. Cell Reports
- Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy
- (2016) Michael S. Hildebrand et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource
- (2016) Michael J. Keogh et al. GENOME RESEARCH
- Somatic mutations inGLI3andOFD1involved in sonic hedgehog signaling cause hypothalamic hamartoma
- (2016) Hirotomo Saitsu et al. Annals of Clinical and Translational Neurology
- Regional mosaic genomic heterogeneity in the elderly and in Alzheimer’s disease as a correlate of neuronal vulnerability
- (2015) Thomas Arendt et al. ACTA NEUROPATHOLOGICA
- On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients
- (2015) Carlo Sala Frigerio et al. Alzheimers & Dementia
- Aneuploidy in Lewy body diseases
- (2015) Yue Yang et al. NEUROBIOLOGY OF AGING
- Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms
- (2015) Alissa M. D’Gama et al. NEURON
- Cohesion and the aneuploid phenotype in Alzheimer's disease: A tale of genome instability
- (2015) Vladan Bajic et al. NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
- Assessment of copy number variations in the brain genome of schizophrenia patients
- (2015) Miwako Sakai et al. Molecular Cytogenetics
- Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer's disease brains
- (2015) Diane M Bushman et al. eLife
- Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism
- (2015) Ivan Y. Iourov et al. International Journal of Genomics
- Mosaike im Gehirn des Menschen
- (2014) Ivan Y. Iourov et al. Medizinische Genetik
- Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations
- (2014) Christos Proukakis et al. MOVEMENT DISORDERS
- Increased L1 Retrotransposition in the Neuronal Genome in Schizophrenia
- (2014) Miki Bundo et al. NEURON
- Somatic Mutations in Cerebral Cortical Malformations
- (2014) Saumya S. Jamuar et al. NEW ENGLAND JOURNAL OF MEDICINE
- Single cell sequencing reveals low levels of aneuploidy across mammalian tissues
- (2014) Kristin A. Knouse et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Aurea Mediocritas: The Importance of a Balanced Genome
- (2014) G. Varetti et al. Cold Spring Harbor Perspectives in Biology
- Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls
- (2014) Junho Kim et al. Scientific Reports
- X chromosome aneuploidy in the Alzheimer’s disease brain
- (2014) Yuri B Yurov et al. Molecular Cytogenetics
- Trisomy 21 Mosaicism: We May All Have a Touch of Down Syndrome
- (2013) M.A. Hultén et al. CYTOGENETIC AND GENOME RESEARCH
- Somatic Cell Genomics of Brain Disorders: A New Opportunity to Clarify Genetic-Environmental Interactions
- (2013) I.Y. Iourov et al. CYTOGENETIC AND GENOME RESEARCH
- Brain somatic mutations: the dark matter of psychiatric genetics?
- (2013) T R Insel MOLECULAR PSYCHIATRY
- A genomic view of mosaicism and human disease
- (2013) Leslie G. Biesecker et al. NATURE REVIEWS GENETICS
- Mitotic Spindle Defects and Chromosome Mis-Segregation Induced by LDL/Cholesterol—Implications for Niemann-Pick C1, Alzheimer’s Disease, and Atherosclerosis
- (2013) Antoneta Granic et al. PLoS One
- Mosaic Copy Number Variation in Human Neurons
- (2013) M. J. McConnell et al. SCIENCE
- The genomically mosaic brain: Aneuploidy and more in neural diversity and disease
- (2013) Diane M. Bushman et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- Behavior genetics and postgenomics
- (2012) Evan Charney BEHAVIORAL AND BRAIN SCIENCES
- Single Cell Genomics of the Brain: Focus on Neuronal Diversity and Neuropsychiatric Diseases
- (2012) Ivan Y Iourov et al. CURRENT GENOMICS
- Aneuploid Cells Are Differentially Susceptible to Caspase-Mediated Death during Embryonic Cerebral Cortical Development
- (2012) S. E. Peterson et al. JOURNAL OF NEUROSCIENCE
- De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
- (2012) Jeong Ho Lee et al. NATURE GENETICS
- The DNA Replication Stress Hypothesis of Alzheimer’s Disease
- (2012) Yuri B. Yurov et al. TheScientificWorldJOURNAL
- Somatic mutations in aging, cancer and neurodegeneration
- (2011) Scott R. Kennedy et al. MECHANISMS OF AGEING AND DEVELOPMENT
- Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis
- (2011) Roger Pamphlett et al. MUSCLE & NERVE
- Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells
- (2011) N. G. Coufal et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Selective Cell Death of Hyperploid Neurons in Alzheimer’s Disease
- (2010) Thomas Arendt et al. AMERICAN JOURNAL OF PATHOLOGY
- Analysis of TSC Cortical Tubers by Deep Sequencing of TSC1, TSC2 and KRAS Demonstrates that Small Second-Hit Mutations in these Genes are Rare Events
- (2010) Wei Qin et al. BRAIN PATHOLOGY
- Genomic and Epigenomic Instability, Fragile Sites, Schizophrenia and Autism
- (2010) Cassandra Smith et al. CURRENT GENOMICS
- Somatic Genome Variations in Health and Disease
- (2010) I. Iourov et al. CURRENT GENOMICS
- Ontogenetic Variation of the Human Genome
- (2010) Y. Yurov et al. CURRENT GENOMICS
- Molecular Cytogenetic Diagnosis and Somatic Genome Variations
- (2010) S. Vorsanova et al. CURRENT GENOMICS
- Genomic Landscape of the Alzheimer’s Disease Brain: Chromosome Instability – Aneuploidy, but Not Tetraploidy – Mediates Neurodegeneration
- (2010) Ivan Y. Iourov et al. Neurodegenerative Diseases
- The human brain in numbers: a linearly scaled-up primate brain
- (2009) Suzana Herculano-Houzel Frontiers in Human Neuroscience
- Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain
- (2009) Ivan Y. Iourov et al. HUMAN MOLECULAR GENETICS
- Neuronal Aneuploidy in Health and Disease:A Cytomic Approach to Understand the Molecular Individuality of Neurons
- (2009) Thomas Arendt et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Developmental neural chromosome instability as a possible cause of childhood brain cancers
- (2009) Ivan Y. Iourov et al. MEDICAL HYPOTHESES
- Alzheimer Aβ Peptide Induces Chromosome Mis-Segregation and Aneuploidy, Including Trisomy 21: Requirement for Tau and APP
- (2009) Antoneta Granic et al. MOLECULAR BIOLOGY OF THE CELL
- Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: Differential expression and pathological meaning
- (2009) Ivan Y. Iourov et al. NEUROBIOLOGY OF DISEASE
- GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny
- (2009) Yuri B Yurov et al. Molecular Cytogenetics
- Chromosomal mosaicism goes global
- (2008) Ivan Y Iourov et al. Molecular Cytogenetics
- Mosaic X chromosome aneuploidy can help to explain the male-to-female ratio in autism
- (2007) Ivan Y. Iourov et al. MEDICAL HYPOTHESES
- The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1
- (2007) Yuri B. Yurov et al. SCHIZOPHRENIA RESEARCH
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started