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Active human retrotransposons: variation and disease
scientific article (publication date: June 2012)
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title
Active human retrotransposons: variation and disease
(English)
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PubMed
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30 April 2017
main subject
retrotransposon
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author name string
Hancks DC
series ordinal
1
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PubMed
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30 April 2017
Kazazian HH Jr
series ordinal
2
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30 April 2017
language of work or name
English
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30 April 2017
publication date
June 2012
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retrieved
30 April 2017
published in
Current Opinion in Genetics & Development
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PubMed
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22406018
retrieved
30 April 2017
volume
22
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PubMed
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issue
3
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PubMed
reference URL
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30 April 2017
page(s)
191-203
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30 April 2017
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3 June 2018
Potential mechanisms of endogenous retroviral-mediated genomic instability in human cancer.
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3 June 2018
Mobile interspersed repeats are major structural variants in the human genome
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3 June 2018
Mobile element scanning (ME-Scan) by targeted high-throughput sequencing
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3 June 2018
SVA retrotransposons: Evolution and genetic instability
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3 June 2018
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy
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3 June 2018
Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion
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3 June 2018
Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.
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3 June 2018
5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genome
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Exon-trapping mediated by the human retrotransposon SVA.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Internal priming: an opportunistic pathway for L1 and Alu retrotransposition in hominins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Mobile elements create structural variation: analysis of a complete human genome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Effects of retroviruses on host genome function.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Conditional activation of a single-copy L1 transgene in mice by Cre.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Mammalian non-LTR retrotransposons: for better or worse, in sickness and in health
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
LINE-1 retrotransposition in human embryonic stem cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Distinct mechanisms for trans-mediated mobilization of cellular RNAs by the LINE-1 reverse transcriptase.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Endonuclease-independent LINE-1 retrotransposition at mammalian telomeres
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Which transposable elements are active in the human genome?
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Active retrotransposition by a synthetic L1 element in mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Emergence of primate genes by retrotransposon-mediated sequence transduction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Cis-preferential LINE-1 reverse transcriptase activity in ribonucleoprotein particles
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Human genomic deletions mediated by recombination between Alu elements.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
L1 integration in a transgenic mouse model
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Multiple fates of L1 retrotransposition intermediates in cultured human cells.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Human endogenous retroviruses in the primate lineage and their influence on host genomes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
R2 target-primed reverse transcription: ordered cleavage and polymerization steps by protein subunits asymmetrically bound to the target DNA.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
SVA elements are nonautonomous retrotransposons that cause disease in humans
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Tracking an embryonic L1 retrotransposition event
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
LINEs mobilize SINEs in the eel through a shared 3' sequence.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Human L1 element target-primed reverse transcription in vitro
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
A new family of chimeric retrotranscripts formed by a full copy of U6 small nuclear RNA fused to the 3' terminus of l1.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
A genome-wide screen for normally methylated human CpG islands that can identify novel imprinted genes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Frequency of recent retrotransposition events in the human factor IX gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Frequent human genomic DNA transduction driven by LINE-1 retrotransposition
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Transduction of 3'-flanking sequences is common in L1 retrotransposition
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
The human LINE-1 reverse transcriptase:effect of deletions outside the common reverse transcriptase domain
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Cytoplasmic ribonucleoprotein complexes containing human LINE-1 protein and RNA
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Defining the beginning and end of KpnI family segments
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Origin of the human L1 elements: proposed progenitor genes deduced from a consensus DNA sequence
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
A novel human nonviral retroposon derived from an endogenous retrovirus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Isolation of an active human transposable element
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
3 June 2018
An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
Novel family of human transposable elements formed due to fusion of the first exon of gene MAST2 with retrotransposon SVA.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
Haemophilia A mutations in the UK: results of screening one-third of the population.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
Detection of two Alu insertions in the CFTR gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
L1 retrotransposition can occur early in human embryonic development.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
Estimating the retrotransposition rate of human Alu elements.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
SVA elements: a hominid-specific retroposon family.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
Gene-breaking: a new paradigm for human retrotransposon-mediated gene evolution
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
Trans mobilization of genomic DNA as a mechanism for retrotransposon-mediated exon shuffling.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
DNA repair mediated by endonuclease-independent LINE-1 retrotransposition
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
A Genome-Wide Screen for Normally Methylated Human CpG Islands That Can Identify Novel Imprinted Genes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376660
retrieved
26 November 2018
An estimated frequency of endogenous insertional mutations in humans
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22406018
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22406018
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A mouse model of human L1 retrotransposition
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22406018
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Deletion of entire HLA-A gene accompanied by an insertion of a retrotransposon
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22406018
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.GDE.2012.02.006
2 references
stated in
PubMed
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22406018
retrieved
30 April 2017
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
170103
OpenCitations bibliographic resource ID
170103
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
170103
PMC publication ID
3376660
2 references
stated in
PubMed
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22406018
retrieved
30 April 2017
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
170103
PubMed publication ID
22406018
2 references
stated in
PubMed
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=22406018
retrieved
30 April 2017
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
170103
ResearchGate publication ID
221692029
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