A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking (Q24295137)

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

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scholarly article

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

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matrix-assisted laser desorption/ionization

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Glycine receptor alpha 1

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GOA release 2020-03-11

negative regulation of transmission of nerve impulse

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GOA release 2020-03-11

Ulrich Stephani

5

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author name string

Andreas Humeny

1

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Thomas Bonk

2

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Kristina Becker

3

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Mehrdad Jafari-Boroujerdi

4

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Klaus Reuter

6

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Cord-Michael Becker

7

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language of work or name

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publication date

March 2002

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European Journal of Human Genetics

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10

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3

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188-96

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

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Organisation of the murine 5-HT3 receptor gene and assignment to human chromosome 11

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Molecular composition of GABAC receptors

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Structure and function of inhibitory glycine receptors

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

The inhibitory glycine receptor: a ligand-gated chloride channel of the central nervous system

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

The human glycine receptor subunit alpha3. Glra3 gene structure, chromosomal localization, and functional characterization of alternative transcripts

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

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

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

A radiation hybrid map of 18 growth factor, growth factor receptor, hormone receptor, or neurotransmitter receptor genes on the distal region of the long arm of chromosome 5

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

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

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Localization of the glycine receptor alpha 1 subunit gene (GLRA1) to chromosome 5q32 by FISH

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Mutational analysis of familial and sporadic hyperekplexia

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Laser desorption ionization of proteins with molecular masses exceeding 10,000 daltons

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Matrix-assisted laser desorption time-of-flight mass spectrometry of oligonucleotides using 3-hydroxypicolinic acid as an ultraviolet-sensitive matrix

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

MALDI-TOF-MS analysis of protein and DNA.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

High-efficiency transformation of mammalian cells by plasmid DNA

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

The frameshift mutation oscillator (Glra1(spd-ot)) produces a complete loss of glycine receptor alpha1-polypeptide in mouse central nervous system

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Elevated DNA sequence diversity in the genomic region of the phosphatase PPP2R3L gene in the human pseudoautosomal region

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Toward a structural basis for the function of nicotinic acetylcholine receptors and their cousins.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

21 January 2018

Heritable mutations in the glycine, GABAA, and nicotinic acetylcholine receptors provide new insights into the ligand-gated ion channel receptor superfamily.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

7 January 2021

based on heuristic

inferred from DOI database lookup

Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

7 January 2021

based on heuristic

inferred from DOI database lookup

The startle disease mutation Q266H, in the second transmembrane domain of the human glycine receptor, impairs channel gating

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping of antigenic epitopes on the alpha 1 subunit of the inhibitory glycine receptor

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

7 January 2021

based on heuristic

inferred from DOI database lookup

Coupled Proteolytic and Mass Spectrometry Studies Indicate a Novel Topology for the Glycine Receptor

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200779

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1038/SJ.EJHG.5200779

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Springer Nature article ID

10.1038/sj.ejhg.5200779

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