Ontogenetic and pathogenetic views on somatic chromosomal mosaicism
Intercellular karyotypic variability has been a focus of genetic research for more than 50
years. It has been repeatedly shown that chromosome heterogeneity manifesting as …
years. It has been repeatedly shown that chromosome heterogeneity manifesting as …
Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain
GA Andriani, J Vijg, C Montagna - Mechanisms of ageing and development, 2017 - Elsevier
Aneuploidy and polyploidy are a form of Genomic Instability (GIN) known as Chromosomal
Instability (CIN) characterized by sporadic abnormalities in chromosome copy numbers …
Instability (CIN) characterized by sporadic abnormalities in chromosome copy numbers …
Pathway-based classification of genetic diseases
Background In medical genetics, diseases are classified according to the nature
(hypothetical nature) of the underlying genetic defect. The classification is “gene-centric” and …
(hypothetical nature) of the underlying genetic defect. The classification is “gene-centric” and …
The cytogenomic “theory of everything”: chromohelkosis may underlie chromosomal instability and mosaicism in disease and aging
Mechanisms for somatic chromosomal mosaicism (SCM) and chromosomal instability (CIN)
are not completely understood. During molecular karyotyping and bioinformatic analyses of …
are not completely understood. During molecular karyotyping and bioinformatic analyses of …
The variome concept: focus on CNVariome
Background Variome may be used for designating complex system of interplay between
genomic variations specific for an individual or a disease. Despite the recognized complexity …
genomic variations specific for an individual or a disease. Despite the recognized complexity …
Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis
SG Vorsanova, AD Kolotii, OS Kurinnaia… - Molecular …, 2021 - Springer
Background Turner's syndrome is associated with either monosomy or a wide spectrum of
structural rearrangements of chromosome X. Despite the interest in studying (somatic) …
structural rearrangements of chromosome X. Despite the interest in studying (somatic) …
Somatic mosaicism in the diseased brain
It is hard to believe that all the cells of a human brain share identical genomes. Indeed,
single cell genetic studies have demonstrated intercellular genomic variability in the normal …
single cell genetic studies have demonstrated intercellular genomic variability in the normal …
Causes and consequences of genome instability in psychiatric and neurodegenerative diseases
Each neuron has 100–10000 connections (synapses) with other neural cells, therefore
genome pathologies affecting a small proportion of brain cells are capable of causing …
genome pathologies affecting a small proportion of brain cells are capable of causing …
Mosaic brain aneuploidy in mental illnesses: an association of low-level post-zygotic aneuploidy with schizophrenia and comorbid psychiatric disorders
YB Yurov, SG Vorsanova, IA Demidova… - Current …, 2018 - ingentaconnect.com
Background: Postzygotic chromosomal variation in neuronal cells is hypothesized to make a
substantial contribution to the etiology and pathogenesis of neuropsychiatric disorders …
substantial contribution to the etiology and pathogenesis of neuropsychiatric disorders …
Neurogenomic pathway of autism spectrum disorders: linking germline and somatic mutations to genetic-environmental interactions
Bioinformatic approaches have been extensively applied in genetic and genomic studies of
autism spectrum disorders (ASD). However, since this disorder has a distinct albeit complex …
autism spectrum disorders (ASD). However, since this disorder has a distinct albeit complex …