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LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption (Q34795268)

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English	LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

1 reference

Europe PubMed Central

LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

1 reference

based on heuristic

inferred from title

genetic disease

1 reference

based on heuristic

inferred from title

David N. Cooper

3

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

author name string

Jian-Min Chen

1

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Claude Férec

2

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

publication date

1 January 2006

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Journal of Biomedicine and Biotechnology

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

2006

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

56182

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

copyright license

Creative Commons Attribution 3.0 Unported

1 January 2006

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

The DNA sequence of the human X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Transcriptional disruption by the L1 retrotransposon and implications for mammalian transcriptomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Nonsense-mediated mRNA decay: terminating erroneous gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Regulation of alternative RNA splicing by exon definition and exon sequences in viral and mammalian gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Extensive gene traffic on the mammalian X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

RNA truncation by premature polyadenylation attenuates human mobile element activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Hot L1s account for the bulk of retrotransposition in the human population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Pre-mRNA splicing and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Molecular mechanisms of autosomal recessive hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Evidence consistent with human L1 retrotransposition in maternal meiosis I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Biology of mammalian L1 retrotransposons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Frequency of recent retrotransposition events in the human factor IX gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Initial sequencing and analysis of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Insertion of Alu element responsible for acute intermittent porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Positional cloning of the gene for X-linked retinitis pigmentosa 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

High frequency retrotransposition in cultured mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Mutation analysis in the BRCA2 gene in primary breast cancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Deletion of the C-terminal end of aspartylglucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

A de novo Alu insertion results in neurofibromatosis type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Isolation of an active human transposable element

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

8 July 2018

Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients.

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A.

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

Unusual mutations in Btk: an insertion, a duplication, an inversion, and four large deletions.

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

An Alu insert as the cause of a severe form of hemophilia A.

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

DNA repair mediated by endonuclease-independent LINE-1 retrotransposition

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

Human Gene Mutation Database (HGMD): 2003 update

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

X for intersection: retrotransposition both on and off the X chromosome is more frequent.

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

Up-regulation of the brain and Purkinje-cell forms of dystrophin transcripts, in Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1155%2FJBB%2F2006%2F56182

21 January 2018

De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

26 October 2018

Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

26 October 2018

Two independent retrotransposon insertions at the same site within the coding region of BTK.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

26 October 2018

Inactivation of the Fas gene by Alu insertion: retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

26 October 2018

AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

26 October 2018

Identification of a novel large F9 gene mutation-an insertion of an Alu repeated DNA element in exon e of the factor 9 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

26 October 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1510945

26 October 2018

Genomic deletions created upon LINE-1 retrotransposition

1 reference

https://pubmed.ncbi.nlm.nih.gov/16877817

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16877817

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An estimated frequency of endogenous insertional mutations in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/16877817

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 20.7 kb deletion within the factor VIII gene associated with LINE-1 element insertion

1 reference

https://pubmed.ncbi.nlm.nih.gov/16877817

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human l1 retrotransposition is associated with genetic instability in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/16877817

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency--partial/complete deletions and rearrangement of the antithrombin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16877817

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16877817

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

1 reference

https://pubmed.ncbi.nlm.nih.gov/16877817

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/16877817

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16877817

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1155/JBB/2006/56182

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

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