Nicotinic acetylcholine receptors in human genetic disease (Q38189979)

30 August 2017

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title

Nicotinic acetylcholine receptors in human genetic disease (English)

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30 August 2017

Christian P Schaaf

1

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PubMed ID

24556925

30 August 2017

language of work or name

English

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publication date

20 February 2014

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30 August 2017

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30 August 2017

16

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30 August 2017

649-656

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30 August 2017

9

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https://scigraph.springernature.com/pub.10.1038/gim.2014.9

30 August 2017

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The chimeric gene CHRFAM7A, a partial duplication of the CHRNA7 gene, is a dominant negative regulator of α7*nAChR function

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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

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Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.

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Association of promoter variants in the alpha7 nicotinic acetylcholine receptor subunit gene with an inhibitory deficit found in schizophrenia

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Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating

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hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

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Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome

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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

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Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

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A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

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A Korean Kindred With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy and Mental Retardation

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A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome

21 January 2018

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Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly

21 January 2018

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The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

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CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

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Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

21 January 2018

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Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms

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Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

21 January 2018

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Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations

21 January 2018

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An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.

21 January 2018

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Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome

21 January 2018

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A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin

21 January 2018

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Mutation history of the roma/gypsies

21 January 2018

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The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

21 January 2018

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Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2014.9

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.9

Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.9

Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.9

A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.9

Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.9

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.9

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.9

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.9

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.9

inferred from DOI database lookup

7 January 2021

based on heuristic

Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.9

inferred from DOI database lookup

7 January 2021

based on heuristic

Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.9

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/GIM.2014.9

1 reference

PubMed ID

24556925

Dimensions Publication ID

30 August 2017

0 references

1 reference

PubMed ID

24556925