Alejandro Rubio-Roldán
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View article: Characterisation of retrotransposon insertion polymorphisms in whole genome sequencing data from individuals with amyotrophic lateral sclerosis
Characterisation of retrotransposon insertion polymorphisms in whole genome sequencing data from individuals with amyotrophic lateral sclerosis Open
The genetics of an individual is a crucial factor in understanding the risk of developing the neurodegenerative disease amyotrophic lateral sclerosis (ALS). There is still a large proportion of the heritability of ALS, particularly in spor…
View article: Determination of Exosome Mitochondrial DNA as a Biomarker of Renal Cancer Aggressiveness
Determination of Exosome Mitochondrial DNA as a Biomarker of Renal Cancer Aggressiveness Open
Here, the role of non-invasive biomarkers in liquid biopsy was evaluated, mainly in exosomes and mitochondrial DNA (mtDNA) as promising, novel, and stable biomarkers for renal cell carcinoma (RCC). A total of 140 fractions (named from B to…
View article: Determination of Exosome Mitochondrial DNA as a Biomarker of Renal Cancer Aggressiveness
Determination of Exosome Mitochondrial DNA as a Biomarker of Renal Cancer Aggressiveness Open
Background: Components of liquid biopsy are promising non-invasive biomarkers for monitoring the renal cell carcinoma (RCC) status. Present study tries to evaluate the role of exosomes and mitochondrial DNA (mtDNA) as promise, novel and st…
View article: LINE-1 transcription in round spermatids is associated with accretion of 5-carboxylcytosine in their open reading frames
LINE-1 transcription in round spermatids is associated with accretion of 5-carboxylcytosine in their open reading frames Open
Chromatin of male and female gametes undergoes a number of reprogramming events during the transition from germ cell to embryonic developmental programs. Although the rearrangement of DNA methylation patterns occurring in the zygote has be…
View article: cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing Open
View article: The tumor suppressor microRNA let-7 inhibits human LINE-1 retrotransposition
The tumor suppressor microRNA let-7 inhibits human LINE-1 retrotransposition Open
View article: The tumor suppressor microRNA let-7 inhibits human LINE-1 retrotransposition
The tumor suppressor microRNA let-7 inhibits human LINE-1 retrotransposition Open
Nearly half of the human genome is made of transposable elements (TEs) whose activity continues to impact its structure and function. Among them, Long INterspersed Element class 1 (LINE-1 or L1) elements are the only autonomously active TE…
View article: N6-methyladenosine regulates the stability of RNA:DNA hybrids in human cells
N6-methyladenosine regulates the stability of RNA:DNA hybrids in human cells Open
View article: LINE-1 retrotransposition impacts the genome of human pre-implantation embryos and extraembryonic tissues
LINE-1 retrotransposition impacts the genome of human pre-implantation embryos and extraembryonic tissues Open
Long Interspersed Element 1 (LINE-1/L1) is an abundant retrotransposon that has greatly impacted human genome evolution. LINE-1s are responsible for the generation of millions of insertions in the current human population. The characteriza…
View article: Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis
Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis Open
View article: Impact of non-LTR retrotransposons in the differentiation and evolution of anatomically modern humans
Impact of non-LTR retrotransposons in the differentiation and evolution of anatomically modern humans Open
Our results strongly suggest that N-LTRr impacted our differentiation as a species, most likely inducing an increase in neural complexity, and have been a constant source of genomic variability all throughout the evolution of the human lin…
View article: Methodology for Y Chromosome Capture: A complete genome sequence of Y chromosome using flow cytometry, laser microdissection and magnetic streptavidin-beads
Methodology for Y Chromosome Capture: A complete genome sequence of Y chromosome using flow cytometry, laser microdissection and magnetic streptavidin-beads Open
View article: Impact of non-LTR retrotransposons in the differentiation and evolution of Anatomically Modern Humans
Impact of non-LTR retrotransposons in the differentiation and evolution of Anatomically Modern Humans Open
Transposable Elements are biologically important components of eukaryote genomes. In particular, non-LTR retrotransposons (N-LTRrs) extensively shaped the human genome throughout evolution. In this study, we compared retrotransposon insert…
View article: Engineered LINE-1 retrotransposition in nondividing human neurons
Engineered LINE-1 retrotransposition in nondividing human neurons Open
Half the human genome is made of transposable elements (TEs), whose ongoing activity continues to impact our genome. LINE-1 (or L1) is an autonomous non-LTR retrotransposon in the human genome, comprising 17% of its genomic mass and contai…