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    DOCK6 dedicator of cytokinesis 6 [ Homo sapiens (human) ]

    Gene ID: 57572, updated on 3-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Associations of ANGPTL6, DOCK6, FABP1, and PCSK9 single-nucleotide variants with hypercholesterolemia in the Polish population: a cross-sectional study.

    Associations of ANGPTL6, DOCK6, FABP1, and PCSK9 single-nucleotide variants with hypercholesterolemia in the Polish population: a cross-sectional study.
    Świderska MK, Mostowska A, Skrypnik D, Bogdański P, Jagodziński PP, Grzegorzewska AE.

    03/1/2023
    Attenuated clinical and osteoclastic phenotypes of Paget's disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene.

    Attenuated clinical and osteoclastic phenotypes of Paget's disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene.
    Dessay M, Couture E, Maaroufi H, Fournier F, Gagnon E, Droit A, Brown JP, Michou L., Free PMC Article

    04/30/2022
    Overexpression of DOCK6 in oral squamous cell cancer promotes cellular migration and invasion and is associated with poor prognosis.

    Overexpression of DOCK6 in oral squamous cell cancer promotes cellular migration and invasion and is associated with poor prognosis.
    Zhang ZY, Sun YY, Wang HC, Fu WN, Sun CF.

    12/18/2021
    Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.

    Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
    Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, Rio M, Rabia SH, Daire VC, Baujat G.

    01/2/2021
    DOCK6 localizes to the endoplasmic reticulum (ER) in dependence of its DHR-1 domain.

    Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases.
    Cerikan B, Schiebel E., Free PMC Article

    04/11/2020
    Results identified c.4106rC and c.3063 C>G mutations in the DOCK6 gene in a 5-year-old Chinese girl with the phenotype of Adams-Oliver syndrome (AOS). When caused by mutations in the DOCK6 gene, the AOS inheritance pattern is autosomal recessive. The two mutations carried by the patient were inherited from the father and mother respectively, generating compound heterozygosity in the patient.

    Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.
    Wang Z, Wang X, Guiyu Lou, Litao Qin, Shasha Bian, Tang X, Hongjie Zhu, Shengran Wang, Bingtao Hao, Shixiu Liao.

    05/18/2019
    Dock6 was over-expressed in GC tissues, and its positive expression was associated with GC metastasis and indicated poor prognosis of GC patients.

    miR-148b-3p inhibits gastric cancer metastasis by inhibiting the Dock6/Rac1/Cdc42 axis.
    Li X, Jiang M, Chen D, Xu B, Wang R, Chu Y, Wang W, Zhou L, Lei Z, Nie Y, Fan D, Shang Y, Wu K, Liang J., Free PMC Article

    05/11/2019
    acute knockdown of the Adams-Oliver syndrome (AOS) gene DOCK6, coding for a RAC1/CDC42 guanine nucleotide exchange factor, results in strikingly different phenotypes to those generated by genomic DOCK6 disruption.

    Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator.
    Cerikan B, Shaheen R, Colo GP, Gläßer C, Hata S, Knobeloch KP, Alkuraya FS, Fässler R, Schiebel E.

    06/24/2017
    this study demonstrates that miR-142-3p is a key regulator of the TGFbeta-mediated contractile phenotype of VSMCs that acts through inhibiting cell migration through targeting DOCK6.

    miR-142-3p Is a Regulator of the TGFβ-Mediated Vascular Smooth Muscle Cell Phenotype.
    Kim K, Yang DK, Kim S, Kang H.

    06/4/2016
    DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies

    DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
    Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M.

    03/5/2016
    A homozygous truncating mutation in dedicator of cytokinesis 6 gene (DOCK6) which encodes an atypical guanidine exchange factor (GEF) known to activate two members of the Rho GTPase family: Cdc42 and Rac1, was identified.

    Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
    Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS., Free PMC Article

    10/15/2011
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