Property Summary

NCBI Gene PubMed Count 41
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 1.7e-04
lung adenocarcinoma -1.200 5.6e-04
ovarian cancer 1.200 3.9e-02
pituitary cancer -1.300 6.7e-03
psoriasis -2.100 4.6e-29

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
20371544 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.
20012313 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
19261599 whereas incomplete loss of DOK7 function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype
19244212 Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation.
18626973 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.
18165682 the COOH-terminal NES and Src homology 2 target motifs play key roles in Dok-7/MuSK signaling for neuromuscular synaptogenesis.
18161030 considerable phenotypic variability associated with congenital myasthenic syndrome due to DOK7 mutations
17439981 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
16917026 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
16794080 Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK

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.
21747134 2011 [Molecular mechanisms underlying the formation of neuromuscular junction].
21504746 2011 The transcription factor Sp1 plays a crucial role in dok-7 gene expression.
21305573 2011 Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.
20610155 2010 DOK7 mutations presenting as a proximal myopathy in French Canadians.
20603078 2010 The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.
20554332 2010 Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.
20458068 2010 Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
20371544 2010 Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
20147321 2010 Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.
20012313 2010 Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.
19837590 2009 Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations.
19261599 2009 Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
19244212 2009 Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation.
19108574 2008 Dok-7/MuSK signaling and a congenital myasthenic syndrome.
18707767 2008 Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
18626973 2008 Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.
18567858 2008 Congenital myasthenic syndromes and the formation of the neuromuscular junction.
18540360 2008 [Overview: MuSK/Dok-7].
18180250 2008 Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
18165682 2008 Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
18161030 2008 Variable phenotypes associated with mutations in DOK7.
17452375 2007 Clinical features of the DOK7 neuromuscular junction synaptopathy.
17439981 2007 Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
16917026 2006 Dok-7 mutations underlie a neuromuscular junction synaptopathy.
16794080 2006 The muscle protein Dok-7 is essential for neuromuscular synaptogenesis.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.