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Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.
Silencing DNMT3A (zeige DNMT3A Proteine) inhibits proliferation and invasion in ESCC cells by inducing demethylation of DOK7.
DOK7 was reduced in lung cancer and reduced DOK7 expression was associated with poorer survival.DOK7 isoform 1 plays an inhibitory role on the proliferation and migration of lung cancer cells.
Individuals with DOK7 congenital myasthenic syndrome displayed stridor and feeding difficulties at birth or progressive weakness despite normal milestones in infancy pointing to a diagnosis and should lead to neurophysiological and genetic investigation
this study demonistrated that Salbutamol is an effective treatment in patient wity congenital myasthenic syndrome due to DOK7 mutation.
DOK7 limb-girdle myasthenic syndrome can mimick congenital muscular dystrophy.
Hypermethylation of DOK7 occurs years before tumor diagnosis, suggesting a role as a powerful epigenetic blood-based biomarker as well as providing insights into breast cancer pathogenesis
In contrast to AChR deficiency due to epsilon subunit (zeige CHRNE Proteine) mutations, onset of DOK7 CMS (zeige Cd2ap Proteine) tends to be later--ages two to three years--and in DOK7 CMS (zeige Cd2ap Proteine) eye movements are usually spared and anticholinesterases can exacerbate the weakness
The DOK7 gene is highly polymorphic, and within these many variants, a spectrum of mutations that can underlie DOK7 Congenital myasthenic syndromes that will inform in managing this disorder, were defined.
Sequencing of DOK-7 in seronegative myasthenia gravis patients reveals no mutations.
6 CMS (zeige Cd2ap Proteine) patients with DOK7 mutations had congenital stridor, bilateral vocal cord palsy and difficulty with feeding
The Dok-7's C-terminal region plays a key, but not fully essential, role in MuSK (zeige MUSK Proteine) activation and NMJ formation.
These results demonstrate that correct, physiological levels of dok-7 expression are required for the postnatal maintenance of neuromuscular junctions.
Protein kinase CK2 (zeige CSNK2A1 Proteine) interacts at the neuromuscular synapse with Rapsyn (zeige RAPSN Proteine), Rac1, 14-3-3gamma (zeige YWHAG Proteine), and Dok-7 proteins and phosphorylates the latter two.
Sp1 (zeige SP1 Proteine) plays a crucial role in the regulation of the dok-7 gene.
Data show a critical role for Crk (zeige CRK Proteine) and Crk (zeige CRK Proteine)-L downstream from Dok-7 in presynaptic and postsynaptic differentiation.
The crystal structure of the Dok7 PH-PTB (zeige PTBP1 Proteine) domains in complex with a phosphopeptide representing the Dok7-binding site on MuSK (zeige MUSK Proteine), is presented.
Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK (zeige MUSK Proteine)
the COOH-terminal NES (zeige NES Proteine) and Src (zeige SRC Proteine) homology 2 target motifs play key roles in Dok-7/MuSK (zeige MUSK Proteine) signaling for neuromuscular synaptogenesis.
The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants.
docking protein 7
, downstream of tyrosine kinase 7
, protein Dok-7
, oncoprotein induced transcript 5