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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 24 Oct 2014.

Cholinergic receptor, nicotinic, gamma

CHRNG, Acrg, Achrg
The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009] (from NCBI)
Top mentioned proteins: CHRND, CHRNA1, vIL, 43-kDa, CHRNB1
Papers on CHRNG
Effect of antipsychotic drugs on gene expression in the prefrontal cortex and nucleus accumbens in the spontaneously hypertensive rat (SHR).
New
Belangero et al., São Paulo, Brazil. In Schizophr Res, Aug 2014
In the clozapine group, we found that Chrng was downregulated in the NAcc and six genes were downregulated in the PFC.
Nonlethal multiple pterygium syndrome: Escobar syndrome.
New
Koch et al., Charleston, United States. In Adv Neonatal Care, Feb 2014
The diagnosis was confirmed by a positive CHRNG gene sequence analysis after discharge.
Neuromotor synapses in Escobar syndrome.
New
Akins et al., Wilmington, United States. In Am J Med Genet A, Dec 2013
The Escobar variant of multiple pterygium syndrome (OMIM #265000) is a rare, autosomal recessive disorder associated with mutations in the γ-subunit of the nicotinic acetylcholine receptor (CHRNG).
Is webbing (pterygia) a constant feature in patients with Escobar syndrome?
New
Grill et al., Vienna, Austria. In Orthop Surg, Nov 2013
Interestingly, his genetic testing showed the typical genotypic criteria of Escobar syndrome (CHRNG heterozygous mutation).
Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.
New
Kumar et al., Bengaluru, India. In Clin Dysmorphol, Apr 2013
The entire coding regions and intron-exon junctions of the ES gene CHRNG (cholinergic receptor, nicotinic, gamma), and two other related genes, CHRND and CHRNA1, were amplified and sequenced to search for mutations in both families.
Systematic analysis of palatal transcriptome to identify cleft palate genes within TGFβ3-knockout mice alleles: RNA-Seq analysis of TGFβ3 Mice.
Nawshad et al., Lincoln, United States. In Bmc Genomics, 2012
Using these patterns, we identified 8 unique genes within TGFβ3-/- mice (Chrng, Foxc2, H19, Kcnj13, Lhx8, Meox2, Shh, and Six3), which may function as the primary contributors to the development of cleft palate in TGFβ3-/- mice.
Alternatively spliced variants of gamma-subunit of muscle-type acetylcholine receptor in fetal and adult skeletal muscle of mouse.
GeneRIF
Tabish et al., Alīgarh, India. In Cell Mol Neurobiol, 2012
The presence of two new transcript variants (T1 and T2) of chrng expressed in mouse postnatal day 3 and adult skeletal muscles, is reported.
Congenital myasthenic syndrome: a brief review.
Review
Werneck et al., Curitiba, Brazil. In Pediatr Neurol, 2012
Therefore, genetic testing may be necessary to identify specific mutations in CHAT, COLQ, LAMB2, CHRNA, CHRNB, CHRND, CHRNE, CHRNG, RAPSN, DOK7, MUSK, AGRN, SCN4A, GFPT1, or PLEC1 genes.
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.
Review
Chen, Taipei, Taiwan. In Taiwan J Obstet Gynecol, 2012
Genetic analysis of mutations in the neuromuscular junction genes such as CHRNA1, CHRND, CHRNG, CNTN1, DOK7, RAPSN, and SYNE1 may unveil the pathogenetic cause of fetal akinesia deformation sequence and multiple pterygium syndrome, and the information acquired is helpful for genetic counseling and clinical management.
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
GeneRIF
Maher et al., Birmingham, United Kingdom. In J Med Genet, 2012
We did not identify a clear difference in mutation spectrum of the CHRNG gene between lethal form and non-lethal forms of multiple pterygium syndromes
Associations of nicotine intake measures with CHRN genes in Finnish smokers.
Kaprio et al., Helsinki, Finland. In Nicotine Tob Res, 2011
We first studied SNPs residing on selected nAChR subunit genes (CHRNA2, CHRNA4, CHRNA6/CHRNB3, CHRNA7, CHRNA9, CHRNA10, CHRNB2, CHRNG/CHRND) genotyped within a genome-wide association study for single SNP and multiple SNP associations by ordinal regression.
Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.
Bierut et al., Saint Louis, United States. In Genes Brain Behav, 2010
Variants in or near CHRND-CHRNG, CHRNA7 and CHRNA10 show modest association with nicotine dependence risk in the AA sample.
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.
Ayadi et al., Sfax, Tunisia. In Hum Genet, 2009
The screening of five candidate genes SAG, PDE6D, CHRND, CHRNG and IRK13 did not reveal any disease-causing mutation.
Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
Bierut et al., Saint Louis, United States. In Am J Med Genet B Neuropsychiatr Genet, 2009
After correcting for the multiple tests across this gene family, we found significant association for two distinct loci in the CHRNA5-CHRNA3-CHRNB4 gene cluster, one locus in the CHRNB3-CHRNA6 gene cluster, and a fourth, novel locus in the CHRND-CHRNG gene cluster.
Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
Maher et al., Birmingham, United Kingdom. In J Med Genet, 2009
Previously, we and others reported that homozygous mutations in the fetal acetylcholine receptor gamma subunit (CHRNG) can cause both lethal and non-lethal MPS, demonstrating that pterygia resulted from fetal akinesia, and that mutations in the acetylcholine receptor subunits CHRNA1, CHRND, and Rapsyn (RAPSN) can also result in a MPS/FADS phenotype.
PAX--FKHR fusion genes and AChR-gamma in Chinese patients with rhabdomyosarcoma: diagnosis using formalin-fixed archival tissues.
GeneRIF
Li et al., Shihezi, China. In Int J Surg Pathol, 2009
Detection of PAX3/7-FKHR fusion gene by one-step RT-PCR is useful in the diagnosis of rhabdomyosarcomas (RMS) and that AChR-gamma is overexpressed in Chinese RMS patients.
Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.
Jouk et al., Grenoble, France. In Neuromuscul Disord, 2009
Escobar syndrome has been recently described as a prenatal form of myasthenia associated with recessive mutations in genes of the neuromuscular junction (CHRNG, CHRNA1, CHRND, RAPSN).
Mutant forms of the extracellular domain of the human acetylcholine receptor gamma-subunit with improved solubility and enhanced antigenicity. The importance of the Cys-loop.
GeneRIF
Tzartos et al., Athens, Greece. In Biochim Biophys Acta, 2008
constructed and characterized four AChR gamma extracellular domain variants
Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.
GeneRIF
Steinle et al., Baltimore, United States. In Bmc Med Genet, 2007
This study suggests for the first time in humans, a possible role for genetic variation in the neuromuscular nicotinic acetylcholine receptor, particularly the gamma subunit, in systolic blood pressure regulation
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