(Q41826449)

English

A retroelement modifies pre-mRNA splicing: the murine Glrb(spa) allele is a splicing signal polymorphism amplified by long interspersed nuclear element insertion.

scientific article published on 10 July 2012

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scholarly article

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7 February 2020

A retroelement modifies pre-mRNA splicing: the murine Glrb(spa) allele is a splicing signal polymorphism amplified by long interspersed nuclear element insertion (English)

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7 February 2020

Emanuele Buratti

4

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7 February 2020

Volker Eulenburg

8

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7 February 2020

Volker Eulenburg

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7 February 2020

author name string

Kristina Becker

1

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7 February 2020

Marlen Braune

2

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7 February 2020

Natalya Benderska

3

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7 February 2020

Francisco Baralle

5

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7 February 2020

Carmen Villmann

6

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7 February 2020

Stefan Stamm

7

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7 February 2020

Cord-Michael Becker

10

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7 February 2020

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10 July 2012

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7 February 2020

Journal of Biological Chemistry

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7 February 2020

287

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7 February 2020

37

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7 February 2020

31185-31194

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7 February 2020

describes a project that uses

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11 June 2022

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1 reference

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A novel glycine receptor beta subunit splice variant predicts an unorthodox transmembrane topology. Assembly into heteromeric receptor complexes

1 reference

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6 June 2018

The genomic distribution of L1 elements: the role of insertion bias and natural selection

1 reference

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6 June 2018

Glycine receptors: recent insights into their structural organization and functional diversity

1 reference

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6 June 2018

Effects of L1 retrotransposon insertion on transcript processing, localization and accumulation: lessons from the retinal degeneration 7 mouse and implications for the genomic ecology of L1 elements

1 reference

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6 June 2018

LINE-1 retrotransposons: modulators of quantity and quality of mammalian gene expression?

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6 June 2018

Are splicing mutations the most frequent cause of hereditary disease?

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6 June 2018

The beta subunit determines the ligand binding properties of synaptic glycine receptors

1 reference

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Transcriptional disruption by the L1 retrotransposon and implications for mammalian transcriptomes

1 reference

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6 June 2018

ASD: the Alternative Splicing Database.

1 reference

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RNA truncation by premature polyadenylation attenuates human mobile element activity

1 reference

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ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

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6 June 2018

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

1 reference

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6 June 2018

A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking

1 reference

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

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The in vivo minigene approach to analyze tissue-specific splicing

1 reference

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Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

1 reference

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6 June 2018

The impact of L1 retrotransposons on the human genome

1 reference

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6 June 2018

Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease

1 reference

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Improved splice site detection in Genie

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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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The glycine receptor deficiency of the mutant mouse spastic: evidence for normal glycine receptor structure and localization.

1 reference

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6 June 2018

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

1 reference

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1 reference

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

1 reference

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

1 reference

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1 reference

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Identifiers

10.1074/JBC.M112.375691

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1 reference

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7 February 2020

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