Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Transposable elements in disease-associated cryptic exons.

Human genetics - 1 Feb 2010

Vorechovsky Igor

Abstract excerpt

Transposable elements (TEs) make up a half of the human genome, but the extent of their contribution to cryptic exon activation that results in genetic disease is unknown. Here, a comprehensive survey of 78 mutation-induced cryptic exons previously identified in 51 disease genes revealed the presence of TEs in 40 cases (51%). Most TE-containing exons were derived from short interspersed nuclear elements (SINEs),...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alu Elements
Share to DNA Transposable Elements
Share to Long Interspersed Nucleotide Elements

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutagenesis, Insertional

Share to RNA Splice Sites

Share to Sequence Homology, Nucleic Acid

Share to Short Interspersed Nucleotide Elements

Source

Identifiers

PMID: 19823873
DOI: 10.1007/s00439-009-0752-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transposable elements in disease-associated cryptic exons.PMID 19823873Read ↗

TDP-43 dysfunction leads to the accumulation of cryptic transposable element-derived exons, crypTEs, in iPSC derived neurons and ALS/FTD patient tissuesSemantic proximity Read ↗

Distributions of transposable elements reveal hazardous zones in mammalian introns.Semantic proximity Read ↗

Transposon clusters as substrates for aberrant splice-site activation.Semantic proximity Read ↗

Transposable element-driven transcript diversification and its relevance to genetic disorders.Semantic proximity Read ↗

Active Human Transposable Elements: Long-Read Sequencing Technologies, Computational Analysis, and Implications for Human DiseaseSemantic proximity Read ↗

Atlas of transcriptionally active transposable elements in human adult tissuesSemantic proximity Read ↗

Characteristics of transposable element exonization within human and mouse.Semantic proximity Read ↗

Transposable elements in cancer and other human diseases.Semantic proximity Read ↗

FREDDIE: A comprehensive tool for detecting exonization of retrotransposable elements in short and long RNA sequencing dataSemantic proximity Read ↗

How do mammalian transposons induce genetic variation? A conceptual framework: the age, structure, allele frequency, and genome context of transposable elements may define their wide-ranging biological impacts.Semantic proximity Read ↗

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.Semantic proximity Read ↗

Landscape of somatic retrotransposition in human cancers.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.