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 …
The role of somatic mosaicism in brain disease
In this review we discuss the importance of genetic somatic mosaicism and its impact on
brain diseases. We start from introducing the different types of somatic mutations, their …
brain diseases. We start from introducing the different types of somatic mutations, their …
Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis
SG Vorsanova, IA Demidova, AD Kolotii… - Molecular …, 2022 - Springer
Background Klinefelter syndrome is a common chromosomal (aneuploidy) disorder
associated with an extra X chromosome in males. Regardless of numerous studies …
associated with an extra X chromosome in males. Regardless of numerous studies …
[HTML][HTML] Copy number variations of satellite III (1q12) and ribosomal repeats in health and schizophrenia
ES Ershova, EM Malinovskaya, VE Golimbet… - Schizophrenia …, 2020 - Elsevier
Objective Earlier we studied the copy number variations (CNVs) of ribosomal repeat (rDNA)
and the satellite III fragment (1q12)(f-SatIII) in the cells of schizophrenia patients (SZ) and …
and the satellite III fragment (1q12)(f-SatIII) in the cells of schizophrenia patients (SZ) and …
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) …
The Role of Lactylation in Mental Illness: Emphasis on Microglia
A Sfera, C Klein, JJ Anton, Z Kozlakidis… - Neuroglia, 2023 - mdpi.com
A paradigm shift is currently taking place in the etiopathogenesis of neuropsychiatric
disorders as immunometabolism is replacing the earlier neurotransmitter model. According …
disorders as immunometabolism is replacing the earlier neurotransmitter model. According …
Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging
Background Somatic chromosomal mosaicism is the presence of cell populations differing
with respect to the chromosome complements (eg normal and abnormal) in an individual …
with respect to the chromosome complements (eg normal and abnormal) in an individual …
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 …
Mosaicism: reason for normal phenotypes in carriers of small supernumerary marker chromosomes with known adverse outcome. A systematic review
T Liehr, A Al-Rikabi - Frontiers in Genetics, 2019 - frontiersin.org
Small supernumerary marker chromosomes (sSMCs) are present in∼ 3.3 million of
presently living human beings. The majority of these sSMC carriers (ie∼ 2.1 million) will …
presently living human beings. The majority of these sSMC carriers (ie∼ 2.1 million) will …