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CHRNG gene

Known as: CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE, ACHRG, CHRNG 
National Institutes of Health

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Related topics

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CHRNB4 gene

Papers overview

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2019
2019
Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor
The acetylcholine receptor (AChR) is a member of the superfamily of transmitter-gated ion channels having a critical role in… 
2018
2018
Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family.
BACKGROUND Escobar syndrome, a nonlethal variant of multiple pterygium syndromes (MPS), is a rare autosomal recessive disorder… 
2017
2017
Clinical and molecular genetics of the multiple pterygium syndromes
The multiple pterygium syndromes are a heterogeneous group of conditions in which arthrogryposis (joint contractures), pterygia… 
2016
2016
Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome
In humans, muscle-specific nicotinergic acetylcholine receptor (AChR) is a transmembrane protein with five different subunits… 
2013
2013
Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome
The objective of this study was to report the clinical phenotype and genetic analysis of two Indian families with Escobar… 
2013
2013
Is Webbing (Pterygia) a Constant Feature in Patients with Escobar Syndrome?
We describe two unrelated patients aged 9 and 12 years. The first patient presented with multiple congenital contractures not… 
2011
2011
Associations of nicotine intake measures with CHRN genes in Finnish smokers.
INTRODUCTION Genetic effects contribute to individual differences in smoking behavior. Persistence to smoke despite known harmful… 
Highly Cited
2009
Highly Cited
2009
Absence of β-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy
2009
2009
Further characterization of a somatic cell hybrid panel: ten new assignments to the bovine genome.
Thirty-six partially characterized hamster-bovine hybrid cell lines were used for the determination of synteny groups. Sixteen… 
2009
2009
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1
Posterior microphthalmia (PM) is a relatively rare autosomal recessive condition with normal anterior segment and small posterior… 
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