Property Summary

NCBI Gene PubMed Count 41
Grant Count 21
R01 Count 21
Funding $1,106,418.28
PubMed Score 93.00
PubTator Score 68.36

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
breast carcinoma 2.000 0.000
lung adenocarcinoma -1.200 0.001
ovarian cancer 1.200 0.039
pituitary cancer -1.300 0.007
psoriasis -2.100 0.000

Gene RIF (20)

PMID Text
23831158 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
23790237 this study demonistrated that Salbutamol is an effective treatment in patient wity congenital myasthenic syndrome due to DOK7 mutation.
23278577 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
23054610 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
22884442 DOK7 limb-girdle myasthenic syndrome can mimick congenital muscular dystrophy.
22661499 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.
21305573 Sequencing of DOK-7 in seronegative myasthenia gravis patients reveals no mutations.
20610155 This study demonistreated that DOK7 mutation casused congenital myasthenic syndrome in French Canadians.
20603078 The crystal structure of the Dok7 PH-PTB domains in complex with a phosphopeptide representing the Dok7-binding site on MuSK, is presented.
20554332 6 CMS patients with DOK7 mutations had congenital stridor, bilateral vocal cord palsy and difficulty with feeding
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AA Sequence

MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLP      1 - 70
YEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVL     71 - 140
ARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPF    141 - 210
GLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSR    211 - 280
LTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSS    281 - 350
SLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSP    351 - 420
PSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFS    421 - 490
ACPVCGGLKVNPPP                                                            491 - 504
//

Text Mined References (41)

PMID Year Title
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23831158 2013 DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
23790237 2013 Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.
23278577 2012 DOK7 congenital myasthenic syndrome.
23054610 2013 DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker.
22884442 2013 DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.
22661499 2012 The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
22353287 2012 Congenital myasthenic syndrome: a brief review.
21975507 2012 Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
21952943 2011 Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
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