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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Cholinergic receptor, nicotinic, delta

CHRND, cholinergic receptor, nicotinic, delta
The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Feb 2012] (from NCBI)
Top mentioned proteins: CHRNG, CHRNA1, 43-kDa, CHRNB1, CAN
Papers on CHRND
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
New
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.
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Ravenscroft et al., Verdun, France. In Orphanet J Rare Dis, 2014
Within this cohort, mutations were found in eight previously known neuromuscular disease genes (CHRND, CHNRG, ECEL1, GBE1, MTM1, MYH3, NEB and RYR1) and four novel neuromuscular disease genes were identified and have been published as separate reports (GPR126, KLHL40, KLHL41 and SPEG).
Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation.
Deloukas et al., Cambridge, United Kingdom. In Epigenetics, 2014
We provide evidence that the metSNP for cg03329539 regulates expression of the CHRND gene located circa 95 Kb downstream of the methylation site.
Molecular analyses provide insight into mechanisms underlying sarcopenia and myofibre denervation in old skeletal muscles of mice.
Shavlakadze et al., Australia. In Int J Biochem Cell Biol, 2014
This onset of sarcopenia at 24 m, corresponded with increased expression of genes associated with neuromuscular junction denervation including Chnrg, Chrnd, Ncam1, Runx1, Gadd45a and Myog.
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.
Pregnancy in congenital myasthenic syndrome.
Stojkovic et al., Paris, France. In J Neurol, 2013
We report on 17 pregnancies in eight patients with CMS with mutations in CHRNA1, CHRNE, CHRND, GFPT1, COLQ, or DOK7.
Pemphigus vulgaris autoantibody profiling by proteomic technique.
Grando et al., Irvine, United States. In Plos One, 2012
The frequency of antigen recognition by patients that exceeded that of control by 10 and more times were the molecules encoded by the CD33, GP1BA, CHRND, SLC36A4, CD1B, CD32, CDH8, CDH9, PMP22 and HLA-E genes as well as mitochondrial proteins encoded by the NDUFS1, CYB5B, SOD2, PDHA1 and FH genes.
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.
Bone marrow-derived mesenchymal stem cells up-regulate acetylcholine receptor delta subunit through NRG/ErbB3-mediated mitogen-activated protein kinase pathway.
GeneRIF
Xu et al., Shanghai, China. In Clin Transl Sci, 2012
Bone marrow-derived mesenchymal stem cells up-regulate skeletal muscle acetylcholine receptor delta subunit through NRG/ErbB3-mediated mitogen-activated protein kinase pathway.
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.
Peer smoking and the nicotinic receptor genes: an examination of genetic and environmental risks for nicotine dependence.
Bierut et al., United States. In Addiction, 2010
Here we test the hypothesis that the nicotinic receptor genes CHRNA5 (rs16969968), CHRNA3 (rs578776), CHRNB3 (rs13277254) and CHRND (rs12466358) modify the risk for nicotine dependence associated with peer smoking.
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.
Decreased phosphorylation of δ and ε subunits of the acetylcholine receptor coincides with delayed postsynaptic maturation in PKC θ deficient mouse.
GeneRIF
Tomàs et al., Reus, Spain. In Exp Neurol, 2010
Delay in maturation of the nAChR clusters during the early postnatal synapse elimination period in protein kinase C (PKCtheta; deficient mice coincides with a reduction in PKCtheta;-mediated phosphorylation of the nAChR delta subunit.
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.
The local anaesthetics proadifen and adiphenine inhibit nicotinic receptors by different molecular mechanisms.
GeneRIF
Bouzat et al., Bahía Blanca, Argentina. In Br J Pharmacol, 2009
The local anaesthetics proadifen and adiphenine inhibit nicotinic receptors by different molecular mechanisms.
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.
Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.
GeneRIF
Engel et al., Rochester, United States. In J Clin Invest, 2008
Results describe the effects of a point mutation in the AChR delta subunit from a congenital myasthenia patient.
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
GeneRIF
Hoffmann et al., Berlin, Germany. In Am J Hum Genet, 2008
study reports homozygous nonsense mutations in CHRNA1 and CHRND and shows that they were lethal
Congenital Myasthenic Syndromes
Review
Lochmüller et al., Seattle, United States. In Unknown Journal, 2003
CHRND (δAChR-subunit).
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