RNA 2′-O-methylation (Nm) modification in human diseases
DG Dimitrova, L Teysset, C Carré - Genes, 2019 - mdpi.com
Nm (2′-O-methylation) is one of the most common modifications in the RNA world. It has
the potential to influence the RNA molecules in multiple ways, such as structure, stability …
the potential to influence the RNA molecules in multiple ways, such as structure, stability …
The congenital and acquired mechanisms implicated in the etiology of central precocious puberty
The etiology of central precocious puberty (CPP) is multiple and heterogeneous, including
congenital and acquired causes that can be associated with structural or functional brain …
congenital and acquired causes that can be associated with structural or functional brain …
Recombination initiation maps of individual human genomes
Introduction The dramatic events of meiotic recombination culminate in the exchange of
genetic information between parental chromosomes and ensure the production of …
genetic information between parental chromosomes and ensure the production of …
Genome destabilization by homologous recombination in the germ line
Meiotic recombination, which promotes proper homologous chromosome segregation at the
first meiotic division, normally occurs between allelic sequences on homologues. However …
first meiotic division, normally occurs between allelic sequences on homologues. However …
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints
S Newman, KE Hermetz, B Weckselblatt… - The American Journal of …, 2015 - cell.com
Interpreting the genomic and phenotypic consequences of copy-number variation (CNV) is
essential to understanding the etiology of genetic disorders. Whereas deletion CNVs lead …
essential to understanding the etiology of genetic disorders. Whereas deletion CNVs lead …
Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism
Purpose: The continuous spike and waves during slow‐wave sleep syndrome (CSWSS) and
the Landau‐Kleffner (LKS) syndrome are two rare epileptic encephalopathies sharing …
the Landau‐Kleffner (LKS) syndrome are two rare epileptic encephalopathies sharing …
The emerging field of epitranscriptomics in neurodevelopmental and neuronal disorders
MT Angelova, DG Dimitrova, N Dinges… - … in bioengineering and …, 2018 - frontiersin.org
Analogous to DNA methylation and histone modifications, RNA modifications represent a
novel layer of regulation of gene expression. The dynamic nature and increasing number of …
novel layer of regulation of gene expression. The dynamic nature and increasing number of …
Identification of sex-specific DNA methylation changes driven by specific chemicals in cord blood in a Faroese birth cohort
Faroe islanders consume marine foods contaminated with methylmercury (MeHg),
polychlorinated biphenyls (PCBs), and other toxicants associated with chronic disease risks …
polychlorinated biphenyls (PCBs), and other toxicants associated with chronic disease risks …
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review
M Kessi, J Peng, L Yang, J Xiong, H Duan, N Pang… - BMC genetics, 2018 - Springer
Background Electrical status epilepticus during slow-wave sleep (ESESS) which is also
known as continuous spike-wave of slow sleep (CSWSS) is type of electroencephalographic …
known as continuous spike-wave of slow sleep (CSWSS) is type of electroencephalographic …
Microdeletion and microduplication syndromes
LELM Vissers, P Stankiewicz - Genomic Structural Variants: Methods and …, 2012 - Springer
During the past decade, widespread use of microarray-based technologies, including
oligonucleotide array comparative genomic hybridization (aCGH) and single nucleotide …
oligonucleotide array comparative genomic hybridization (aCGH) and single nucleotide …