DOK7 Antibody

1. Repression of Dok7 expression via DNMT1 mediated DNA methylation promotes glioma cell proliferation. PMID: 29990858
2. Silencing DNMT3A inhibits proliferation and invasion in ESCC cells by inducing demethylation of DOK7. PMID: 28343076
3. 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. PMID: 28393246
4. 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 PMID: 23831158
5. this study demonistrated that Salbutamol is an effective treatment in patient wity congenital myasthenic syndrome due to DOK7 mutation. PMID: 23790237
6. DOK7 limb-girdle myasthenic syndrome can mimick congenital muscular dystrophy. PMID: 22884442
7. 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 PMID: 23054610
8. In contrast to AChR deficiency due to epsilon subunit mutations, onset of DOK7 CMS tends to be later--ages two to three years--and in DOK7 CMS eye movements are usually spared and anticholinesterases can exacerbate the weakness PMID: 23278577
9. 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. PMID: 22661499
10. Sequencing of DOK-7 in seronegative myasthenia gravis patients reveals no mutations. PMID: 21305573
11. 6 CMS patients with DOK7 mutations had congenital stridor, bilateral vocal cord palsy and difficulty with feeding PMID: 20554332
12. This study demonistreated that DOK7 mutation casused congenital myasthenic syndrome in French Canadians. PMID: 20610155
13. these findings demonstrate that missense mutations in MUSK can result in a severe form of congenital myasthenic syndrome and indicate that the inability of MuSK mutants to interact with Dok-7. PMID: 20371544
14. We report clinical, morphological and molecular data on 15 congenital myasthenic syndrome patients with mutations in DOK7; characterization of this distinct phenotype is essential to provide clues for targeted genetic screening and therapy PMID: 20012313
15. The crystal structure of the Dok7 PH-PTB domains in complex with a phosphopeptide representing the Dok7-binding site on MuSK, is presented. PMID: 20603078
16. Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK PMID: 16794080
17. findings showed that recessive inheritance of mutations in Dok-7, which result in a defective structure of the neuromuscular junction, is a cause of congenital myasthenic syndromes with proximal muscle weakness PMID: 16917026
18. study of patients with congenital myasthenic syndromes with mutations in DOK7; none with DOK7 mutations had tubular aggregates in muscle biopsy, implying 'limb-girdle myasthenia with tubular aggregates' may be distinct from CMS caused by DOK7 mutations PMID: 17439981
19. considerable phenotypic variability associated with congenital myasthenic syndrome due to DOK7 mutations PMID: 18161030
20. the COOH-terminal NES and Src homology 2 target motifs play key roles in Dok-7/MuSK signaling for neuromuscular synaptogenesis. PMID: 18165682
21. Dok-7 is essential for not only the size but also the structural integrity of the EP. The structural alterations at the EPs cause the reduced safety margin of neuromuscular transmission. PMID: 18626973
22. Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation. PMID: 19244212
23. whereas incomplete loss of DOK7 function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype PMID: 19261599

Show More

Hide All

HGNC: 26594

OMIM: 254300

KEGG: hsa:285489

STRING: 9606.ENSP00000344432

UniGene: Hs.122110