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Nicotinic acetylcholine receptors in human genetic disease.

Nicotinic acetylcholine receptors in human genetic disease.

http://www.wikidata.org/entity/Q38189979

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PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics Nicotinic ACh receptors as therapeutic targets in CNS disorders Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome The human clinical phenotypes of altered CHRNA7 copy number Neonicotinoid Insecticides Alter the Gene Expression Profile of Neuron-Enriched Cultures from Neonatal Rat Cerebellum Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome.Understanding the Bases of Function and Modulation of α7 Nicotinic Receptors: Implications for Drug Discovery.Regulation of RIC-3 and of nAChR expression.Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.Prenatal restraint stress decreases the expression of alpha-7 nicotinic receptor in the brain of adult rat offspring.Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes.

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Nicotinic acetylcholine receptors in human genetic disease.

http://www.wikidata.org/entity/Q38189979

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Nicotinic acetylcholine receptors in human genetic disease.

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Nicotinic acetylcholine receptors in human genetic disease.

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Nicotinic acetylcholine receptors in human genetic disease.

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Genetics in Medicine

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Nicotinic acetylcholine receptors in human genetic disease.

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Christian P Schaaf

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Rare chromosomal deletions and duplications increase risk of schizophrenia

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

A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation

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

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

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

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

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

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

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649-656

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scholarly article

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10.1038/GIM.2014.9

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