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After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
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CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome
Two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene were identified.
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
No mutations were found in CHRNG, CHRND (show CHRND ELISA Kits) and CHRNA1 (show CHRNA1 ELISA Kits) genes of Indian families with Escobar syndrome.
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
A good correlation was found between the expression of PAX3 (show PAX3 ELISA Kits)/7-FKHR (show FOXO1 ELISA Kits) and AChR, while MyoD1 (show MYOD1 ELISA Kits) was more sensitive but less specific.
CHRNG mutations identified in families with Escobar syndrome show that the trait is a congenital dysmorphology caused by transient inactivation of the neuromuscular endplate.
constructed and characterized four AChR gamma extracellular domain variants
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.
The presence of two new transcript variants (T1 and T2) of chrng expressed in mouse postnatal day 3 and adult skeletal muscles, is reported.
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.
acetylcholine receptor subunit gamma
, acetylcholine receptor, muscle, gamma subunit
, acetylcholine receptor, nicotinic, gamma (muscle)
, cholinergic receptor, nicotinic, gamma polypeptide
, acetylcholine receptor gamma-subunit
, acetylcholine receptor gamma subunit
, cholinergic receptor, nicotinic, gamma
, acetylcholine receptor subunit gamma-like
, AChR gamma subunit
, chrng variant N1
, chrng variant N2
, nicotinic acetylcholine receptor gamma subunit