| DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies. | DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies.
Reid AL, Wang Y, Samani A, Hightower RM, Lopez MA, Gilbert SR, Ianov L, Crossman DK, Dell'Italia LJ, Millay DP, van Groen T, Halade GV, Alexander MS., Free PMC Article | 08/28/2021 |
| hree patients with genetic variants in the dedicator of cytokinesis 3 (DOCK3) who presented with global developmental delay (GDD), hypotonia, and wide-based or uncoordinated gait. | Variants in DOCK3 cause developmental delay and hypotonia.
Wiltrout K, Ferrer A, van de Laar I, Namekata K, Harada T, Klee EW, Zimmerman MT, Cousin MA, Kempainen JL, Babovic-Vuksanovic D, van Slegtenhorst MA, Aarts-Tesselaar CD, Schnur RE, Andrews M, Shinawi M., Free PMC Article | 06/20/2020 |
| here we report a second case of biallelic DOCK3 mutation due to homozygous deletion. Given the clinical similarities among the cases with DOCK3 mutations, we provided further evidence that biallelic mutations of DOCK3 lead to a specific DOCK3-related neurodevelopmental syndrome | DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.
Iwata-Otsubo A, Ritter AL, Weckselbatt B, Ryan NR, Burgess D, Conlin LK, Izumi K., Free PMC Article | 06/23/2018 |
| Common features in both affected individuals include severe developmental disability, ataxic gait, and severe hypotonia, which recapitulates the Dock3 knockout mouse phenotype. We show that complete DOCK3 deficiency in humans leads to developmental disability with significant hypotonia and gait ataxia, probably due to abnormal axonal development | Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.
Helbig KL, Mroske C, Moorthy D, Sajan SA, Velinov M. | 05/19/2018 |
| Inhibition of Dock3 by Dock3 shRNA impaired the severity of status epilepticus in the acute stage and decreased the spontaneous recurrent seizures times in the chronic stage of lithium-pilocarpine model and decreased the expression of rac1-GTP. | Dock3 Participate in Epileptogenesis Through rac1 Pathway in Animal Models.
Li J, Mi X, Chen L, Jiang G, Wang N, Zhang Y, Deng W, Wang Z, Chen G, Wang X. | 12/31/2016 |
| Results supported that miR-512-3p could inhibit tumor cell adhesion, migration, and invasion by regulating the RAC1 activity via DOCK3 in NSCLC A549 and H1299 cell lines. | Inhibition of RAC1-GEF DOCK3 by miR-512-3p contributes to suppression of metastasis in non-small cell lung cancer.
Zhu X, Gao G, Chu K, Yang X, Ren S, Li Y, Wu H, Huang Y, Zhou C. | 08/8/2015 |
| It plays a role in axonal regeneration. (review) | [Role of Dock3 in axonal regeneration].
Namekata K, Harada T. | 11/17/2012 |
| MOCA is a key molecule of the Alzheimer disease-relevant neuronal death signals that links the presenilin-mediated death signal with the APP-mediated death signal at a point between Rac1 or Cdc42 and ASK1. | MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins.
Tachi N, Hashimoto Y, Matsuoka M. | 04/14/2012 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex | Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex.
Namekata K, Harada C, Taya C, Guo X, Kimura H, Parada LF, Harada T., Free PMC Article | 05/31/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (4) articlesAssociation analysis of 3p21 with Crohn's disease in a New Zealand population.
Morgan AR, Han DY, Lam WJ, Fraser AG, Ferguson LR. Genetic variants in SLC9A9 are associated with measures of attention-deficit/hyperactivity disorder symptoms in families.
Markunas CA, Quinn KS, Collins AL, Garrett ME, Lachiewicz AM, Sommer JL, Morrissey-Kane E, Kollins SH, Anastopoulos AD, Ashley-Koch AE. Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A.
Elia J, Capasso M, Zaheer Z, Lantieri F, Ambrosini P, Berrettini W, Devoto M, Hakonarson H. A common variant in DRD3 receptor is associated with autism spectrum disorder.
de Krom M, Staal WG, Ophoff RA, Hendriks J, Buitelaar J, Franke B, de Jonge MV, Bolton P, Collier D, Curran S, van Engeland H, van Ree JM. | 01/11/2009 |
| MOCA is a novel Wnt negative regulator and demonstrate that this screening approach can be a rapid means for isolation of new Wnt regulators. | A novel functional screen in human cells identifies MOCA as a negative regulator of Wnt signaling.
Caspi E, Rosin-Arbesfeld R., Free PMC Article | 01/21/2010 |
| We report that MOCA modulates cell-cell adhesion and morphology by increasing the accumulation of adherens junction proteins. | Modifier of cell adhesion regulates N-cadherin-mediated cell-cell adhesion and neurite outgrowth.
Chen Q, Chen TJ, Letourneau PC, Costa Lda F, Schubert D., Free PMC Article | 01/21/2010 |