(Q33897836)

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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

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Europe PubMed Central

PubMed publication ID

29 July 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Duchenne muscular dystrophy

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author name string

Narita N

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Nishio H

2

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Kitoh Y

3

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Ishikawa Y

4

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Ishikawa Y

5

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Minami R

6

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Nakamura H

7

1 reference

Europe PubMed Central

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29 July 2017

Matsuo M

8

1 reference

Europe PubMed Central

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29 July 2017

language of work or name

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publication date

1 May 1993

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Europe PubMed Central

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29 July 2017

Journal of Clinical Investigation

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Europe PubMed Central

PubMed publication ID

29 July 2017

91

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Europe PubMed Central

PubMed publication ID

29 July 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

1862-1867

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

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

1 reference

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5 July 2018

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

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5 July 2018

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

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5 July 2018

Human genome organization: Alu, LINES, and the molecular structure of metaphase chromosome bands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

1 reference

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5 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

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5 July 2018

Pre-mRNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 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=288178

5 July 2018

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Unit-length line-1 transcripts in human teratocarcinoma cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Nonviral retroposons: genes, pseudogenes, and transposable elements generated by the reverse flow of genetic information

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Exon definition may facilitate splice site selection in RNAs with multiple exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Sequences of junction fragments in the deletion-prone region of the dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Screening of gene deletions by polymerase chain reaction in Japanese patients with Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Duplication of the gamma-globin gene mediated by L1 long interspersed repetitive elements in an early ancestor of simian primates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 July 2018

Reverse Transcriptase Encoded by a Human Transposable Element

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288178

5 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=288178

5 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=288178

5 July 2018

Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8387534

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial deletion of a dystrophin gene leads to exon skipping and to loss of an intra-exon hairpin structure from the predicted mRNA precursor

1 reference

https://pubmed.ncbi.nlm.nih.gov/8387534

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8387534

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amplification of ten deletion-rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8387534

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8387534

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The abundant LINE-1 family of repeated DNA sequences in mammals: genes and pseudogenes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8387534

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI116402

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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