Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. (Q48082303)

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28 October 2019

title

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

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28 October 2019

2

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28 October 2019

Stephen F Kingsmore

series ordinal

1

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28 October 2019

6

Seldin MF

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28 October 2019

5

Caron MG

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28 October 2019

author name string

Suh D

series ordinal

3

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28 October 2019

Bieniarz M

series ordinal

4

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28 October 2019

language of work or name

English

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publication date

1 June 1994

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28 October 2019

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28 October 2019

volume

7

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28 October 2019

issue

2

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28 October 2019

page(s)

136-141

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Ligand-gated ion channels in the brain: the amino acid receptor superfamily

28 October 2019

cites work

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The strychnine-binding subunit of the glycine receptor shows homology with nicotinic acetylcholine receptors

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Cloning and expression of the 58 kd beta subunit of the inhibitory glycine receptor

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Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

21 January 2018

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A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse

21 January 2018

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The glycine receptor in the mutant mouse spastic (spa): strychnine binding characteristics and pharmacology

21 January 2018

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Genetic analysis of autoimmune gld mice. I. Identification of a restriction fragment length polymorphism closely linked to the gld mutation within a conserved linkage group

21 January 2018

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Glycine receptors: heterogeneous and widespread in the mammalian brain

21 January 2018

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The sequence of a large L1Md element reveals a tandemly repeated 5' end and several features found in retrotransposons

21 January 2018

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Assembly of the inhibitory glycine receptor: identification of amino acid sequence motifs governing subunit stoichiometry

21 January 2018

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

21 January 2018

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Insertional mutagenesis of the myc locus by a LINE-1 sequence in a human breast carcinoma

21 January 2018

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Inactivation of muscle chloride channel by transposon insertion in myotonic mice

21 January 2018

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Transcriptional Repression and Differential Splicing of Fas m-RNA by Early Transposon (ETn) Insertion in Autoimmune LPR Mice

21 January 2018

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Cloning and functional characterization of a cocaine-sensitive dopamine transporter

21 January 2018

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Structure and function of inhibitory glycine receptors

21 January 2018

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7 January 2021

A single amino acid exchange alters the pharmacology of neonatal rat glycine receptor subunit.

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7 January 2021

Functional expression in Xenopus oocytes of the strychnine binding 48 kd subunit of the glycine receptor.

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7 January 2021

Functional chloride channels by mammalian cell expression of rat glycine receptor subunit

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7 January 2021

Glycine receptor alteration in the mutant mouse spastic

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7 January 2021

Deficit of spinal cord glycine/strychnine receptors in inherited myoclonus of Poll Hereford calves.

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7 January 2021

Deficit of inhibitory glycine receptors in spinal cord from Peruvian Pasos: evidence for an equine form of inherited myoclonus

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7 January 2021

Electrophysiological studies with the spastic mutant mouse

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7 January 2021

Influence of aminooxyacetic acid, a gamma-aminobutyrate transaminase inhibitor, on hereditary spastic defect in the mouse

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7 January 2021

Muscle growth in normal and spastic mice

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7 January 2021

Assignment of LH XVI to chromosome 3 in the mouse

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7 January 2021

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

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7 January 2021

Isoform-selective deficit of glycine receptors in the mouse mutant spastic

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7 January 2021

The information content of phase-known matings for ordering genetic loci

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7 January 2021

Encyclopedia of the mouse genome III. October 1993. Mouse chromosome 3

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7 January 2021

Characterization of an atypical member of the Na+/Cl(-)-dependent transporter family: chromosomal localization and distribution in GABAergic and glutamatergic neurons in the rat brain.

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7 January 2021

Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans

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7 January 2021

Definition of mouse chromosome 1 and 3 gene linkage groups that are conserved on human chromosome 1: evidence that a conserved linkage group spans the centromere of human chromosome 1.

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7 January 2021

Widespread expression of glycine receptor subunit mRNAs in the adult and developing rat brain

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7 January 2021

The murine GABAA receptor delta-subunit gene: structure and assignment to human chromosome 1

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7 January 2021

Isolation, characterization, and localization of human genomic DNA encoding the β1 subunit of the GABAA receptor (GABRB1)

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7 January 2021

Conserved organization of gamma-aminobutyric acidA receptor genes: cloning and analysis of the chicken beta 4-subunit gene

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7 January 2021

Size and structure of the highly repetitive BAM HI element in mice

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7 January 2021

Primary cultures of mouse spinal cord express the neonatal isoform of the inhibitory glycine receptor

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-136

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

https://api.crossref.org/works/10.1038%2FNG0694-136

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

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7 January 2021

Identifiers

DOI

10.1038/NG0694-136

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7920630%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference