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   Articles with "alu insertion" as a keyword



Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them

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recommendations! Published in 2024 at "Scientific Reports"

DOI: 10.1038/s41598-024-76509-4

Abstract: Recently, a founder Alu insertion in exon 4 of RP1 was detected in Japanese and Korean patients with inherited retinal diseases (IRDs). However, carrier frequency and diagnostic challenges for detecting AluY insertion are not established.… read more here.

Keywords: aluy insertion; diagnostic challenges; insertion; ird group ... See more keywords

Genomic diversity and differentiation of Alu insertion polymorphisms in a native British and four South Asian migrant populations.

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recommendations! Published in 2023 at "Annals of human biology"

DOI: 10.1080/03014460.2023.2180091

Abstract: BACKGROUND Alu insertions are bi-allelic and primate-specific, this makes them a useful marker for studying genetic variation, migration patterns, forensic analyses, paternity, and evolutionary heritage, however, specific population studies are limited. AIM The objective of… read more here.

Keywords: south asian; migrant; migrant populations; alu insertion ... See more keywords

Alu Insertion Polymorphisms as Evidence for Population Structure in Baboons

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recommendations! Published in 2017 at "Genome Biology and Evolution"

DOI: 10.1093/gbe/evx184

Abstract: Abstract Male dispersal from the natal group at or near maturity is a feature of most baboon (Papio) species. It potentially has profound effects upon population structure and evolutionary processes, but dispersal, especially for unusually… read more here.

Keywords: insertion polymorphisms; population; alu insertion; population structure ... See more keywords

Alu insertion variants alter mRNA splicing

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recommendations! 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

Alu insertion variants alter gene transcript levels.

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recommendations! Published in 2021 at "Genome research"

DOI: 10.1101/gr.261305.120

Abstract: Alu are high copy number interspersed repeats that have accumulated near genes during primate and human evolution. They are a pervasive source of structural variation in modern humans. Impacts that Alu insertions may have on… read more here.

Keywords: insertion; transcript levels; insertion variants; gene ... See more keywords