CHRNG Antibody

1. CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome PMID: 27245440
2. Two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene were identified. PMID: 25411939
3. Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. PMID: 25608830
4. 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 PMID: 22167768
5. CHRNG mutations identified in families with Escobar syndrome show that the trait is a congenital dysmorphology caused by transient inactivation of the neuromuscular endplate. PMID: 16826520
6. Mutations cxause lethal and nonlethal forms of multiple pterygium syndrome. PMID: 16826531
7. constructed and characterized four AChR gamma extracellular domain variants PMID: 18502212
8. 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 PMID: 18625075
9. 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. PMID: 18988640

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HGNC: 1967

OMIM: 100730

KEGG: hsa:1146

STRING: 9606.ENSP00000374145

UniGene: Hs.248101