| DOK7, a target of miR-299-5p, suppresses the progression of bladder cancer. | DOK7, a target of miR-299-5p, suppresses the progression of bladder cancer.
Tian X, Liu D, He P, Li L, Wang Y, Qiu M., Free PMC Article | 12/28/2023 |
| Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. | Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Mishra S, Nair KV, Shukla A. | 09/26/2023 |
| Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy. | Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy.
Gomathy SB, Das A, Garg A, Srivastava AK. | 08/25/2023 |
| A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells. | A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
Zhang S, Ohkawara B, Ito M, Huang Z, Zhao F, Nakata T, Takeuchi T, Sakurai H, Komaki H, Kamon M, Araki T, Ohno K., Free PMC Article | 04/27/2023 |
| DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer. | DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer.
Gowdini E, Aleyasin SA, Ramezani N, Nafisi N, Tutuni M. | 01/14/2023 |
| Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation. | Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
Oh SJ, King PH, Schindler A. | 12/3/2022 |
| Hsa_Circ_0001947/MiR-661/DOK7 Axis Restrains Non-Small Cell Lung Cancer Development. | Hsa_Circ_0001947/MiR-661/DOK7 Axis Restrains Non-Small Cell Lung Cancer Development.
Bao Y, Yu Y, Hong B, Lin Z, Qi G, Zhou J, Liu K, Zhang X., Free PMC Article | 12/18/2021 |
| Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness. | Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.
Lorenzoni PJ, Kay CSK, Arndt RC, Hrysay NMC, Ducci RD, Fustes OHJ, Töpf A, Lochmüller H, Werneck LC, Scola RH. | 10/3/2020 |
| 2 unrelated adult patients who presented with a limb-girdle congenital myasthenic syndrome, caused by 2 compound heterozygous pathogenic sequence variants in DOK7: c.1124_1127dupTGCC (P.Ala378Serfs*30) and c.480C> A (p.Tyr160*) | Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations.
Bissay V, Maselli RA. | 06/27/2020 |
| this study shows hypermethylation of DOK7 gene in DNA from patients affected with breast cancer | Examination of methylation changes of VIM, CXCR4, DOK7, and SPDEF genes in peripheral blood DNA in breast cancer patients.
Shirkavand A, Boroujeni ZN, Aleyasin SA. | 06/29/2019 |
| Data showed that DOK7 transcript variants 1 (DOK7V1) were decreased in lung cancer, and associated with poor overall survival and progressionfree survival. Its overexpression limited the proliferation and migration, but enhanced the adhesion to the extracellular matrix, of lung cancer cells. Further data indicate that DOK7V1 may inhibit proliferation and migration via negatively regulating the PI3K/AKT/mTOR signaling. | DOK7V1 influences the malignant phenotype of lung cancer cells through PI3K/AKT/mTOR and FAK/paxillin signaling pathways.
Zhao H, Chen G, Ye L, Yu H, Li S, Jiang WG. | 03/16/2019 |
| Data identified MuSK activator Dok-7 as a another ROR1-binding protein independently of MuSK interaction. | Interaction between ROR1 and MuSK activation complex in myogenic cells.
Karvonen H, Summala K, Niininen W, Barker HR, Ungureanu D. | 01/12/2019 |
| Repression of Dok7 expression via DNMT1 mediated DNA methylation promotes glioma cell proliferation. | Repression of Dok7 expression mediated by DNMT1 promotes glioma cells proliferation.
Hua CD, Bian EB, Chen EF, Yang ZH, Tang F, Wang HL, Zhao B. | 12/22/2018 |
| Silencing DNMT3A inhibits proliferation and invasion in ESCC cells by inducing demethylation of DOK7. | Repression of DOK7 mediated by DNMT3A promotes the proliferation and invasion of KYSE410 and TE-12 ESCC cells.
Yang SM, Li SY, Yu HB, Li JR, Sun LL. | 02/24/2018 |
| 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. | The downstream of tyrosine kinase 7 is reduced in lung cancer and is associated with poor survival of patients with lung cancer.
Chen G, Yu H, Satherley L, Zabkiewicz C, Resaul J, Zhao H, Mu H, Zhi X, He J, Ye L, Jiang WG., Free PMC Article | 06/24/2017 |
| 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 | DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, Feng L, Manzur AY, Tirupathi S, Devile C, Jayawant S, Finlayson S, Palace J, Muntoni F, Beeson D, Robb SA. | 05/10/2014 |
| this study demonistrated that Salbutamol is an effective treatment in patient wity congenital myasthenic syndrome due to DOK7 mutation. | Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.
Lorenzoni PJ, Scola RH, Kay CS, Filla L, Miranda AP, Pinheiro JM, Chaouch A, Lochmüller H, Werneck LC. | 02/8/2014 |
| DOK7 limb-girdle myasthenic syndrome can mimick congenital muscular dystrophy. | DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.
Mahjneh I, Lochmüller H, Muntoni F, Abicht A. | 09/7/2013 |
| 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 | DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker.
Heyn H, Carmona FJ, Gomez A, Ferreira HJ, Bell JT, Sayols S, Ward K, Stefansson OA, Moran S, Sandoval J, Eyfjord JE, Spector TD, Esteller M., Free PMC Article | 03/2/2013 |
| 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 | DOK7 congenital myasthenic syndrome.
Palace J. | 02/23/2013 |
| 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. | The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J, Liu WW, Belaya K, Maxwell S, Oldridge M, Lester T, Robb S, Beeson D. | 12/22/2012 |
| Sequencing of DOK-7 in seronegative myasthenia gravis patients reveals no mutations. | Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.
Alseth EH, Maniaol AH, Elsais A, Nakkestad HL, Tallaksen C, Gilhus NE, Skeie GO. | 05/21/2011 |
| 6 CMS patients with DOK7 mutations had congenital stridor, bilateral vocal cord palsy and difficulty with feeding | Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.
Jephson CG, Mills NA, Pitt MC, Beeson D, Aloysius A, Muntoni F, Robb SA, Bailey CM. | 01/1/2011 |
| This study demonistreated that DOK7 mutation casused congenital myasthenic syndrome in French Canadians. | DOK7 mutations presenting as a proximal myopathy in French Canadians.
Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, Poulin C, Mathieu J, Bouchard JP, Brais B. | 10/23/2010 |
| 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. | Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
Maselli RA, Arredondo J, Cagney O, Ng JJ, Anderson JA, Williams C, Gerke BJ, Soliven B, Wollmann RL., Free PMC Article | 08/30/2010 |