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    GENE:

    PDE4DIP (Phosphodiesterase 4D Interacting Protein)

    i
    Other names: PDE4DIP, Phosphodiesterase 4D Interacting Protein, Myomegalin, MMGL, Cardiomyopathy-Associated Protein, KIAA0477, KIAA0454, CMYA2, Myomegalin/Phosphodiesterase 4D Interacting Protein Variant, Phosphodiesterase 4D-Interacting Protein, Cardiomyopathy Associated 2
    7d
    Identification of potentially deleterious mutations in gastric cancer using patient-derived xenograft models. (PubMed, Front Genet)
    The integrated analysis of longitudinal WES data from primary tumors and matched PDXs enabled the identification of a core set of conserved, potentially deleterious mutations. The four prioritized mutations (PTPRK, PIK3CB, LRP1B, and IGF2R) provide new insights into the genetic landscape of gastric cancer and represent promising candidates for the development of targeted therapeutic strategies.
    Preclinical • Journal
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    TP53 (Tumor protein P53) • ASXL1 (ASXL Transcriptional Regulator 1) • LRP1B (LDL Receptor Related Protein 1B) • PIK3CD (Phosphatidylinositol-4 5-Bisphosphate 3-Kinase Catalytic Subunit Delta) • PIK3CB (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta) • IRS2 (Insulin receptor substrate 2) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2) • PDE4DIP (Phosphodiesterase 4D Interacting Protein) • PTPRK (Protein Tyrosine Phosphatase Receptor Type K)
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    TP53 mutation • ASXL1 mutation
    2ms
    PM2.5 promotes non-small cell lung cancer tumorigenesis by miR-21-5p targeting PDE4DIP accumulated. (PubMed, Transl Cancer Res)
    miR-21-5p could target PDE4DIP and promote tumor growth of NSCLC. SORBS2 suppressed NSCLC tumorigenesis by regulating miR-21-5p/PDE4DIP signaling pathway.
    Journal
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    MIR21 (MicroRNA 21) • PDE4DIP (Phosphodiesterase 4D Interacting Protein) • PDE4D (Phosphodiesterase 4D)
    5ms
    Clinicopathological and molecular genetic characteristics of embryonal rhabdomyosarcoma in the middle ear: an analysis of 11 cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
    ERMS of the middle ear is a rare type of malignant tumor with a relatively poor prognosis. Our study indicates that the concurrence of PDE4DIP mutation and C19orf69::TPM3 gene fusion may indicate poor prognosis in middle ear EMRS, providing a potential target for subsequent individualized treatment.
    Journal
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    TPM3 (Tropomyosin 3) • PDE4DIP (Phosphodiesterase 4D Interacting Protein) • PDE4D (Phosphodiesterase 4D)
    7ms
    Germline Variations in Patients With Oral Squamous Cell Carcinoma-Systematic Review. (PubMed, Oral Dis)
    This review compiles important data on the most frequent GV in patients with OSCC, enabling new understandings of oral carcinogenesis, as well as future directions for prognosis and treatment.
    Review • Journal
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PDE4DIP (Phosphodiesterase 4D Interacting Protein)
    8ms
    Cell-free DNA profiles of dermatomyositis and its potential role in discriminating phenotypes. (PubMed, Front Immunol)
    Furthermore, cfDNA features exhibit variability across some sub-phenotypes and may serve as discriminatory indices. Finally, potential involvement of extracellular DNases in cfDNA profiles in dermatomyositis shall be further investigated.
    Journal
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    BRCA2 (Breast cancer 2, early onset) • PDE4DIP (Phosphodiesterase 4D Interacting Protein)
    1year
    The PDE4DIP-AKAP9 axis promotes lung cancer growth through modulation of PKA signalling. (PubMed, Commun Biol)
    Depletion of PDE4DIP mislocalizes PKA RIIα from the Golgi and leads to its degradation, thereby compromising its negative regulatory effect on PKA signalling. Overall, our findings provide novel insights into the roles of the PDE4DIP-AKAP9 complex in regulating PKA signalling and NSCLC growth and highlight PDE4DIP as a promising therapeutic target for NSCLC.
    Journal
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    PDE4DIP (Phosphodiesterase 4D Interacting Protein) • PDE4D (Phosphodiesterase 4D)
    1year
    Identification of Genetic Factors Related With Nonhereditary Colorectal Polyposis and Its Recurrence Through Genome-Wide Association Study. (PubMed, J Gastroenterol Hepatol)
    This study identified 71 novel risk variants for nonhereditary colorectal polyposis, with three SNPs (rs149368557, rs12438834, and rs9707935) indicating significant associations with increased risk of polyposis recurrence.
    Journal
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    PDE4DIP (Phosphodiesterase 4D Interacting Protein)
    1year
    Construction of AML prognostic model with CYP2E1 and GALNT12 biomarkers based on golgi- associated genes. (PubMed, Ann Hematol)
    The exactness of the model in guiding the prognosis of AML was established. As a result of expression validation, CYP2E1 and GALNT12 will be used as biomarkers to offer fresh insights into the prognosis and treatment of AML patients.
    Journal
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    PDE4DIP (Phosphodiesterase 4D Interacting Protein)
    over1year
    Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing. (PubMed, BMC Med Genomics)
    Our results are in accordance with previous studies in HCC regarding highly mutated genes, TCGA and specifically enriched pathways in HCC. Analysis for clinical interpretation of variants revealed the presence of Tier 1 and Tier 2 variants that represent potential clinically actionable targets. The use of sequencing techniques to detect structural variants and novel techniques as single cell sequencing together with multiomics transcriptomics, metagenomics will integrate the molecular pathogenesis of HCC in Egyptian patients.
    Journal
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    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1) • BAP1 (BRCA1 Associated Protein 1) • KMT2D (Lysine Methyltransferase 2D) • PTCH1 (Patched 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • MSH2 (MutS Homolog 2) • KMT2C (Lysine Methyltransferase 2C) • MUC16 (Mucin 16, Cell Surface Associated) • AHNAK2 (AHNAK Nucleoprotein 2) • MUC5B (Mucin 5B, Oligomeric Mucus/Gel-Forming) • PDE4DIP (Phosphodiesterase 4D Interacting Protein) • APOB (Apolipoprotein B) • MUC2 (Mucin 2) • MUC6 (Mucin 6)
    over1year
    Novel genetic alterations in liver cancer distinguish distinct clinical outcomes and combination immunotherapy responses. (PubMed, Front Pharmacol)
    Comprehensive genomic profiling deciphered distinct molecular characterizations underlying VI, location of onset, recurrence, and survival time in liver cancer. The identification of novel genetic predictors of response to anti-PD-1 plus bevacizumab in HCC facilitated the development of an evidence-based approach to therapy.
    Clinical data • Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • RB1 (RB Transcriptional Corepressor 1) • BAP1 (BRCA1 Associated Protein 1) • KMT2D (Lysine Methyltransferase 2D) • MSH2 (MutS Homolog 2) • KMT2C (Lysine Methyltransferase 2C) • FAT1 (FAT atypical cadherin 1) • NOTCH3 (Notch Receptor 3) • FAT3 (FAT Atypical Cadherin 3) • ZFHX3 (Zinc Finger Homeobox 3) • KDM5D (Lysine Demethylase 5D) • PDE4DIP (Phosphodiesterase 4D Interacting Protein) • LATS1 (Large Tumor Suppressor Kinase 1) • PDE3A (Phosphodiesterase 3A) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • MYO18A (Myosin XVIIIA) • PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1)
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    Avastin (bevacizumab)
    almost2years
    Molecular and immune characterization of Chinese early-stage non-squamous non-small cell lung cancer: a multi-omics cohort study. (PubMed, Transl Lung Cancer Res)
    Eventually, seven machine-learning (ML) algorithms were employed to evaluate the predictive accuracy of clinical, genomic, transcriptomic, and TCR repertoire data on DFS, showing that clinical and RNA features combination in the random forest (RF) algorithm, with area under the curve (AUC) of 97.5% and 83.3% in the training and testing cohort, respectively, significantly outperformed other methods. This study comprehensively profiled the genomic, transcriptomic, and TCR repertoire spectrums of Chinese early-stage Ns-NSCLC, shedding light on biological underpinnings and candidate biomarkers for prognosis development.
    Journal • Tumor mutational burden • IO biomarker
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    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CD123 (Interleukin 3 Receptor Subunit Alpha) • IL1A (Interleukin 1, alpha) • PDE4DIP (Phosphodiesterase 4D Interacting Protein) • IL1R1 (Interleukin 1 receptor, type I) • ABCA2 (ATP Binding Cassette Subfamily A Member 2) • MUC17 (Mucin 17) • ULBP2 (UL16 Binding Protein 2)
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    TP53 mutation • EGFR mutation • TMB-H
    almost2years
    Exploring the Role of Non-synonymous and Deleterious Variants Identified in Colorectal Cancer: A Multi-dimensional Computational Scrutiny of Exomes. (PubMed, Curr Genomics)
    An in-depth multi-dimensional downstream analysis of all these genes in terms of gene expression profiling and analysis and differential gene expression with regard to various cancer types revealed CTSB and CPNE1 as highly expressed and overregulated genes in colorectal cancer. Our work provides insights into the various alterations that might possibly lead to colorectal cancer and suggests the possibility of utilizing the most important genes identified for wet-lab experimentation.
    Journal
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    MUC4 (Mucin 4, Cell Surface Associated) • PDE4DIP (Phosphodiesterase 4D Interacting Protein) • CPNE1 (Copine 1) • OPRM1 (Opioid Receptor Mu 1) • RAD17 (RAD17 Checkpoint Clamp Loader Component) • SEMA4D (Semaphorin 4D)