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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. Zusätzlich bieten wir Ihnen Cholinergic Receptor, Nicotinic, gamma Antikörper (33) und Cholinergic Receptor, Nicotinic, gamma Proteine (7) und viele weitere Produktgruppen zu diesem Protein an.
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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 and CHRNA1 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 PAX3/7-FKHR and AChR, while MyoD1 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.
Mutations cxause lethal and nonlethal forms of multiple pterygium syndrome.
constructed and characterized four AChR gamma extracellular domain variants
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
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.
hair cells transiently express alpha1gamma-containing nAChRs in addition to alpha9alpha10, and that these may have a role during development of the inner ear innervation
Results suggest a requirement for gamma-acetylcholine receptors in mediating synaptically-induced action potential activity critical for neuromuscular development.
Results demonstrate that the gamma-subunit is required for the formation of pre-patterned AChR clusters, which in turn play an essential role in determining the subsequent pattern of neuromuscular synaptogenesis.
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