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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 25 Jan 2016.

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, CAN, 43-kDa, vIL
Papers on CHRNG
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Lupski et al., In J Clin Invest, 11 Feb 2016
RESULTS: Affected individuals from 17 families (35.4%) had variants in known arthrogryposis-associated genes, including homozygous variants of cholinergic γ nicotinic receptor (CHRNG, 6 subjects) and endothelin converting enzyme-like 1 (ECEL1, 4 subjects).
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Groffen et al., Amsterdam, Netherlands. In Eur J Hum Genet, Sep 2015
FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPSN; however, these genes only account for a minority of cases.
Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene.
Cho et al., Seoul, South Korea. In J Pediatr Orthop B, May 2015
We report orthopaedic manifestation and the treatment outcome of two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene.
Insights into Human Astrocyte Response to H5N1 Infection by Microarray Analysis.
Jin et al., Wuhan, China. In Viruses, May 2015
Moreover, H5N1 infection significantly upregulated the gene expressions related to the neuroactive ligand-receptor interaction pathway at 24 hpi, such as MC2R, CHRNG, P2RY13, GABRA1, and HRH2, which participant in synaptic transmission and may take part in CNS disorders induced by H5N1 infection.
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
Shin et al., Seoul, South Korea. In J Hum Genet, Apr 2015
Mutations in CHRNG, which encode the acetylcholine receptor gamma subunit, cause most cases of MPS.
Effect of antipsychotic drugs on gene expression in the prefrontal cortex and nucleus accumbens in the spontaneously hypertensive rat (SHR).
Belangero et al., São Paulo, Brazil. In Schizophr Res, 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.
Koch et al., Charleston, United States. In Adv Neonatal Care, 2014
The diagnosis was confirmed by a positive CHRNG gene sequence analysis after discharge.
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
Maher et al., Amsterdam, Netherlands. In Acta Neuropathol Commun, 2013
Interestingly, FADS, LMPS and EVMPS may be allelic e.g. each of these phenotypes may result from mutations in the foetal acetylcholine receptor gamma subunit gene (CHRNG).
Neuromotor synapses in Escobar syndrome.
Akins et al., Wilmington, United States. In Am J Med Genet A, 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?
Grill et al., Vienna, Austria. In Orthop Surg, 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.
Kumar et al., Bengaluru, India. In Clin Dysmorphol, 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.
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.
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.
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.
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
PAX--FKHR fusion genes and AChR-gamma in Chinese patients with rhabdomyosarcoma: diagnosis using formalin-fixed archival tissues.
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.
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.
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.
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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