LAUSR

Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

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0 Published in 2018 at "Human Mutation"

DOI: 10.1002/humu.23605

Abstract: Skeletal dysplasias are a diverse group of rare Mendelian disorders with clinical and genetic heterogeneity. Here, we used targeted copy number variant (CNV) screening and identified intragenic exonic duplications, formed through Alu‐Alu fusion events, in… read more here.

Keywords: ift81 protein; alu; duplication; alu alu ... See more keywords

Alu insertion variants alter mRNA splicing

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1 Published in 2019 at "Nucleic Acids Research"

DOI: 10.1093/nar/gky1086

Abstract: Abstract RNA splicing is a highly regulated process dependent on sequences near splice sites. Insertions of Alu retrotransposons can disrupt splice sites or bind splicing regulators. We hypothesized that some common inherited polymorphic Alu insertions… read more here.

Keywords: variants alter; alu; alter mrna; insertion variants ... See more keywords

Frequency of Alu insertions within the ACE and PR loci in Northwestern Mexicans

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1 Published in 2017 at "BMC Research Notes"

DOI: 10.1186/s13104-017-2673-y

Abstract: ObjectivePresently, non-LTR retrotransposons are the most active mobile elements in the human genome. Among these, Alu elements are highly represented in the modern population. Worldwide, distribution of Alu polymorphisms (insertion/deletion; I/D) shows variability between different… read more here.

Keywords: alu; frequency alu; within ace; alu insertions ... See more keywords

Duplex Alu Screening for Degraded DNA of Skeletal Human Remains

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1 Published in 2017 at "Diversity"

DOI: 10.3390/d9040048

Abstract: The human-specific Alu elements, belonging to the class of Short INterspersed Elements (SINEs), have been shown to be a powerful tool for population genetic studies. An earlier study in this department showed that it was… read more here.

Keywords: skeletal human; alu; alu screening; human remains ... See more keywords

Alu RNA Modulates the Expression of Cell Cycle Genes in Human Fibroblasts

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1 Published in 2019 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms20133315

Abstract: Alu retroelements, whose retrotransposition requires prior transcription by RNA polymerase III to generate Alu RNAs, represent the most numerous non-coding RNA (ncRNA) gene family in the human genome. Alu transcription is generally kept to extremely… read more here.

Keywords: alu rnas; alu; alu rna; cell cycle ... See more keywords