| CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case. | CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case.
Soyer T, Boybeyi Ö, Karaosmanoğlu B, Taşkıran E, Şimşek ÖP, Utine GE. | 02/6/2024 |
| child was diagnosed with slow-channel congenital myasthenic syndrome (SCCMS) type 3A caused by heterozygous variant of the CHRND gene | [Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome].
Liu Y, Ye S, Zhang H, Zhang K, Lyu Y, Gao M, Gai Z, Liu Y. | 06/27/2020 |
| Data suggest mutation in invariant Cys-loop of CHRND (D140N) observed in muscle of one patient (11 y/o girl) with congenital myasthenia (w/ severe muscle weakness) alters conformation of ligand/acetylcholine binding site and receptor functionality. | Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates.
Shen XM, Brengman J, Neubauer D, Sine SM, Engel AG., Free PMC Article | 07/16/2016 |
| This study showed that a single mutation of the delta subunit, L332P, allows the synapse in slow muscles to function but renders those in fast muscles almost nonfunctional. | A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapses.
Park JY, Mott M, Williams T, Ikeda H, Wen H, Linhoff M, Ono F., Free PMC Article | 10/4/2014 |
| These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits. | Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor.
Rudell JC, Borges LS, Rudell JB, Beck KA, Ferns MJ., Free PMC Article | 03/22/2014 |
| No mutations were found in CHRNG, CHRND and CHRNA1 genes of Indian families with Escobar syndrome. | Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.
Kodaganur SG, Tontanahal SJ, Sarda A, Shah MH, Bhat V, Kumar A. | 09/14/2013 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Peer smoking and the nicotinic receptor genes: an examination of genetic and environmental risks for nicotine dependence.
Johnson EO, Chen LS, Breslau N, Hatsukami D, Robbins T, Saccone NL, Grucza RA, Bierut LJ., Free PMC Article | 12/5/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Joslyn G, Ravindranathan A, Brush G, Schuckit M, White RL. | 04/7/2010 |
| Results describe the effects of a point mutation in the AChR delta subunit from a congenital myasthenia patient. | Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.
Shen XM, Fukuda T, Ohno K, Sine SM, Engel AG., Free PMC Article | 01/21/2010 |
| study reports homozygous nonsense mutations in CHRNA1 and CHRND and shows that they were lethal | Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (6) articlesA large-scale candidate gene association study of age at menarche and age at natural menopause.
He C, Kraft P, Chasman DI, Buring JE, Chen C, Hankinson SE, Paré G, Chanock S, Ridker PM, Hunter DJ. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.
Saccone NL, Schwantes-An TH, Wang JC, Grucza RA, Breslau N, Hatsukami D, Johnson EO, Rice JP, Goate AM, Bierut LJ. Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
Saccone NL, Saccone SF, Hinrichs AL, Stitzel JA, Duan W, Pergadia ML, Agrawal A, Breslau N, Grucza RA, Hatsukami D, Johnson EO, Madden PA, Swan GE, Wang JC, Goate AM, Rice JP, Bierut LJ. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A, Psychiatric Genetics Network Group. Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.
McArdle PF, Rutherford S, Mitchell BD, Damcott CM, Wang Y, Ramachandran V, Ott S, Chang YP, Levy D, Steinle N. Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis.
Giraud M, Eymard B, Tranchant C, Gajdos P, Garchon HJ. | 03/13/2008 |
| No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence. | Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER., Free PMC Article | 01/21/2010 |