Mobile elements and disease (Q74837228)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9690999%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

title

Mobile elements and disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9690999%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

author name string

H. H. Kazazian

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9690999

3 January 2025

publication date

1 June 1998

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9690999%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

June 1998

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9690999

3 January 2025

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9690999

https://doi.org/10.1016/s0959-437x(98)80092-0

3 January 2025

work available at URL

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9690999

https://api.elsevier.com/content/article/PII:S0959437X98800920?httpAccept=text/xml

3 January 2025

1 reference

https://api.crossref.org/works/10.1016/S0959-437X(98)80092-0

https://api.elsevier.com/content/article/PII:S0959437X98800920?httpAccept=text/plain

3 January 2025

1 reference

https://api.crossref.org/works/10.1016/S0959-437X(98)80092-0

Current Opinion in Genetics & Development

3 January 2025

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9690999%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9690999%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9690999%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

page(s)

343-350

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9690999%20AND%20SRC:MED&resulttype=core&format=json

publication type of scholarly work

13 November 2019

review article

1 reference

Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences

cites work

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7 January 2021

Molecular Reconstruction of Sleeping Beauty, a Tc1-like Transposon from Fish, and Its Transposition in Human Cells

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7 January 2021

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

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7 January 2021

The viruses in all of us: characteristics and biological significance of human endogenous retrovirus sequences

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7 January 2021

A human endogenous retroviral superantigen as candidate autoimmune gene in type I diabetes

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7 January 2021

Germ line-specific expression of intracisternal A-particle retrotransposons in transgenic mice

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7 January 2021

Neomorphic agouti mutations in obese yellow mice

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7 January 2021

Differential expression of a new dominant agouti allele (Aiapy) is correlated with methylation state and is influenced by parental lineage

1 reference

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7 January 2021

The mouse pale ear ( ep ) mutation is the homologue of human Hermansky–Pudlak syndrome

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7 January 2021

The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression

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7 January 2021

IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa

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7 January 2021

Retrotransposition of a mouse IAP sequence tagged with an indicator gene

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7 January 2021

The molecular basis of the obese mutation in ob2J mice

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7 January 2021

Cloning of the T gene required in mesoderm formation in the mouse

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7 January 2021

Inactivation of muscle chloride channel by transposon insertion in myotonic mice

1 reference

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7 January 2021

Aberrant transcription caused by the insertion of an early transposable element in an intron of the Fas antigen gene of lpr mice

1 reference

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7 January 2021

Mutations in the founder of the MIP gene family underlie cataract development in the mouse.

1 reference

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7 January 2021

Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene

1 reference

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7 January 2021

Origin of the human L1 elements: proposed progenitor genes deduced from a consensus DNA sequence

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7 January 2021

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

1 reference

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7 January 2021

Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements

1 reference

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7 January 2021

A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion

1 reference

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7 January 2021

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy

1 reference

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7 January 2021

Unit-length line-1 transcripts in human teratocarcinoma cells

1 reference

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7 January 2021

Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.

1 reference

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7 January 2021

The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element

1 reference

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7 January 2021

Dysfunction of the Orleans reeler gene arising from exon skipping due to transposition of a full-length copy of an active L1 sequence into the skipped exon

1 reference

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7 January 2021

Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron

1 reference

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7 January 2021

The bg allele mutation is due to a LINE1 element retrotransposition

1 reference

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7 January 2021

Reverse Transcriptase Encoded by a Human Transposable Element

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7 January 2021

Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene

1 reference

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7 January 2021

A de novo Alu insertion results in neurofibromatosis type 1

1 reference

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7 January 2021

Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition

1 reference

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7 January 2021

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements

1 reference

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7 January 2021

Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease

1 reference

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7 January 2021

Inactivation of the mouse HPRT locus by a 203-bp retroposon insertion and a 55-kb gene-targeted deletion: establishment of new HPRT-deficient mouse embryonic stem cell lines

1 reference

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7 January 2021

Isolation of an active human transposable element

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7 January 2021

High frequency retrotransposition in cultured mammalian cells

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7 January 2021

Many human L1 elements are capable of retrotransposition

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7 January 2021

An actively retrotransposing, novel subfamily of mouse L1 elements

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7 January 2021

Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: A mechanism for non-LTR retrotransposition

1 reference

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7 January 2021

Identification, characterization, and cell specificity of a human LINE-1 promoter

1 reference

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7 January 2021

Developmental and cell type specificity of LINE-1 expression in mouse testis: implications for transposition

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7 January 2021

Translation of LINE-1 DNA elements in vitro and in human cells

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7 January 2021

Sequence-specific single-strand RNA binding protein encoded by the human LINE-1 retrotransposon

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7 January 2021

Cytoplasmic ribonucleoprotein complexes containing human LINE-1 protein and RNA

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7 January 2021

Ribonucleoprotein particles with LINE-1 RNA in mouse embryonal carcinoma cells

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7 January 2021

Translation of the human LINE-1 element, L1Hs

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7 January 2021

Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition

1 reference

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7 January 2021

Structure and function of the multifunctional DNA-repair enzyme exonuclease III

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7 January 2021

Telomerase Catalytic Subunit Homologs from Fission Yeast and Human

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7 January 2021

Telomerase and Retrotransposons: Which Came First?

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7 January 2021

Functional differences between the human LINE retrotransposon and retroviral reverse transcriptases for invivo mRNA reverse transcription

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7 January 2021

LINEs and Alus--the polyA connection

1 reference

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7 January 2021

The decline in human Alu retroposition was accompanied by an asymmetric decrease in SRP9/14 binding to dimeric Alu RNA and increased expression of small cytoplasmic Alu RNA.

1 reference

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7 January 2021

Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons

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7 January 2021

RNA template requirements for target DNA-primed reverse transcription by the R2 retrotransposable element

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7 January 2021

The impact of L1 retrotransposons on the human genome

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7 January 2021

The Tc1/mariner transposon family

2

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Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer

3 January 2025

26

1 reference

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Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

3 January 2025

39

1 reference

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Active LINE-1 retrotransposons in human testicular cancer

3 January 2025

50

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3 January 2025

Identifiers

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9690999%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference