| Our study contributes to further define the phenotypic spectrum of CHRNG-related nonlethal MPS, including muscle imaging features, which may be useful in distinguishing it from other diffuse arthrogryposis entities. | CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A. | 06/13/2020 |
| A homozygous nonsense CHRNG variant c.136C>T (p.R46*), predicted to produce a truncated protein that leads to acetylcholine receptor deficiency was detected in a consanguineous Pakistani family with Escobar syndrome. | Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family.
Sher G, Naeem M. | 05/9/2020 |
| CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome | Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.
Kariminejad A, Almadani N, Khoshaeen A, Olsson B, Moslemi AR, Tajsharghi H., Free PMC Article | 09/16/2017 |
| Two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene were identified. | Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene.
Sung KH, Lee SH, Kim N, Cho TJ. | 01/16/2016 |
| Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. | Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
Seo J, Choi IH, Lee JS, Yoo Y, Kim NK, Choi M, Ko JM, Shin YB. | 10/10/2015 |
| 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 |
| 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 | CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
Vogt J, Morgan NV, Rehal P, Faivre L, Brueton LA, Becker K, Fryns JP, Holder S, Islam L, Kivuva E, Lynch SA, Touraine R, Wilson LC, MacDonald F, Maher ER. | 04/14/2012 |
| 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. | PAX--FKHR fusion genes and AChR-gamma in Chinese patients with rhabdomyosarcoma: diagnosis using formalin-fixed archival tissues.
Chang B, Pang LJ, Qi Y, Liu CX, Cao Y, Li HA, Hu WH, Jiang JF, Zhang WJ, Li F. | 01/21/2010 |
| constructed and characterized four AChR gamma extracellular domain variants | 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.
Bitzopoulou K, Kostelidou K, Poulas K, Tzartos SJ. | 01/21/2010 |
| 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 | 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, McArdle PF, Rutherford S, Mitchell BD, Damcott CM, Wang Y, Ramachandran V, Ott S, Chang YP, Levy D, Steinle N., Free PMC Articles: PMC2478679, PMC2478679 | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) 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, McArdle PF, Rutherford S, Mitchell BD, Damcott CM, Wang Y, Ramachandran V, Ott S, Chang YP, Levy D, Steinle N. | 07/23/2008 |
| Mutations cxause lethal and nonlethal forms of multiple pterygium syndrome. | Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER., Free PMC Article | 01/21/2010 |
| A good correlation was found between the expression of PAX3/7-FKHR and AChR, while MyoD1 was more sensitive but less specific. | Detection of bone marrow micrometastasis and microcirculating disease in rhabdomyosarcoma by a real-time RT-PCR assay.
Gallego S, Llort A, Roma J, Sabado C, Gros L, de Toledo JS. | 01/21/2010 |
| CHRNG mutations identified in families with Escobar syndrome show that the trait is a congenital dysmorphology caused by transient inactivation of the neuromuscular endplate. | Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S., Free PMC Article | 01/21/2010 |