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GENE:

OBSCN (Obscurin)

i
Other names: OBSCN, Obscurin, Cytoskeletal Calmodulin And Titin-Interacting RhoGEF, KIAA1556, KIAA1639, ARHGEF30, UNC89, Obscurin-MLCK, Obscurin, Obscurin, Myosin Light Chain Kinase, Obscurin-Myosin Light Chain Kinase, Obscurin-RhoGEF
Associations
Trials
1m
The varied functions of the giant muscle scaffold protein obscurin. (PubMed, Front Cell Dev Biol)
Potential tumor-suppressing properties have been revealed through OBSCN lncRNAs and epigenetic regulation. This review aims to provide a comprehensive overview of obscurin's molecular functions and interactions by discussing the effects of its differential expression and its interactions with binding partners, along with the differences and similarities between vertebrate and invertebrate obscurin.
Review • Journal
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TTN (Titin) • OBSCN (Obscurin) • SPEG (Striated Muscle Enriched Protein Kinase)
3ms
Multi-Omics Analysis Reveals OBSCN as a Key Modulator of Tumor Microenvironment, Microbial Signatures and Clinical Outcomes in Gastric Cancer. (PubMed, Microbiologyopen)
Furthermore, machine learning models based on the OBSCN mutation-related gene signatures (OMRGS) achieve outstanding performance in prediction of response to immune checkpoint inhibitors. In summary, our findings position OBSCN as a novel molecular nexus linking genomic alterations, intratumoral microbiome dysbiosis, and immune infiltration in GC, providing a rationale for future biomarker-driven therapeutic strategies.
Clinical data • Journal • Tumor mutational burden • IO biomarker
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TMB (Tumor Mutational Burden) • OBSCN (Obscurin)
3ms
A Novel Germline Frameshift Variant in the Tumor Suppressor Gene OBSCN in a Melanoma Patient. (PubMed, Int J Mol Sci)
To date, somatic OBSCN mutations have been reported in melanoma. This first report of a germline OBSCN frameshift variant in melanoma expands the genetic landscape of melanoma predisposition and suggests that OBSCN may represent a candidate gene contributing to melanoma risk.
Journal
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OBSCN (Obscurin)
11ms
Loss of OBSCN expression promotes bladder cancer progression but enhances the efficacy of PD-L1 inhibitors. (PubMed, Cell Biosci)
This study confirmed that BLCA patients with low OBSCN expression had a worse prognosis but a superior response to ICIs, providing a reference for individualised treatment of BLCA patients.
Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • CD8 (cluster of differentiation 8) • OBSCN (Obscurin)
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PD-L1 expression
11ms
Genomic characteristics and prognostic correlations in Chinese multiple myeloma patients. (PubMed, BMC Med Genomics)
In summary, we characterized the genomic landscape of MM in diverse Chinese populations, confirmed clonal evolution, and identified prognostic genes.
Journal
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RB1 (RB Transcriptional Corepressor 1) • B2M (Beta-2-microglobulin) • IGLL5 (Immunoglobulin Lambda Like Polypeptide 5) • NFKBIA (NFKB Inhibitor Alpha 2) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • CACNA1H (Calcium Voltage-Gated Channel Subunit Alpha1 H) • OBSCN (Obscurin) • UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5)
2years
Comprehensive somatic mutational analysis in glioblastoma: Implications for precision medicine approaches. (PubMed, PLoS One)
Glioblastoma multiforme (GBM), a malignant neoplasm originating from glial cells, remains challenging to treat despite the current standard treatment approach that involves maximal safe surgical resection, radiotherapy, and adjuvant temozolomide chemotherapy...Also, the study identified potential drug sensitivity patterns in GBM patients with mutations in OBSCN and AHNAK2, and evaluated the impact of amino acid changes in specific protein domains on the survival of GBM patients. These findings provide important insights into the genetic alterations and somatic interactions in GBM, which could have implications for the development of new therapeutic strategies for this aggressive malignancy.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • AHNAK2 (AHNAK Nucleoprotein 2) • OBSCN (Obscurin)
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temozolomide
over2years
Immunotherapy Efficacy-related Risk Classifier Differentiate Prognostic Characteristics of Gastric Cancer-A Large-scale Retrospective Study. (PubMed, J Immunother)
In addition, the LR group had high tumor mutation burden, FLG, and OBSCN mutations. A prognostic risk classifier for GC patients was identified and validated by carrying out a multicenter retrospective study.
Retrospective data • Journal • Tumor mutational burden • IO biomarker
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KRAS (KRAS proto-oncogene GTPase) • TMB (Tumor Mutational Burden) • CD4 (CD4 Molecule) • TGFB1 (Transforming Growth Factor Beta 1) • OBSCN (Obscurin)
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TMB-H
almost3years
OBSCN restoration via OBSCN-AS1 long-noncoding RNA CRISPR-targeting suppresses metastasis in triple-negative breast cancer. (PubMed, Proc Natl Acad Sci U S A)
CRISPR-activation of OBSCN-AS1 in triple-negative breast cancer cells effectively and specifically restores OBSCN expression and markedly suppresses cell migration, invasion, and dissemination from three-dimensional spheroids in vitro and metastasis in vivo. Collectively, these results reveal the previously unknown regulation of OBSCN by an antisense lncRNA and the metastasis suppressor function of the OBSCN-AS1/OBSCN gene pair, which may be used as prognostic biomarkers and/or therapeutic targets for metastatic breast cancer.
Journal
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KRAS (KRAS proto-oncogene GTPase) • OBSCN (Obscurin)
over3years
Genomic and Transcriptomic Profiling Reveal the Mechanism and Risk Factors of CD19-Negative Relapse after CAR-T Cell Therapy (ASH 2022)
Mutations of CD19 exon2-4 leads to the variation on protein structure, which hindered targeted killing process of CAR-T cells and finally resulted in CD19-negative relapse. On the other hand, OBSCN and RHOH may play a role in promoting leukemia proliferation and decreasing apoptosis, and the lower expression of OBSCN and RHOH may be risk factors associated with CD19-negative relapse. In addition, lower expression of RHOH was unfavourable for the infiltration of TN, TEM, TM and TILs in tumor microenvironment, which lead to the weakening anti-tumor effect of immunocytes.
Clinical • CAR T-Cell Therapy • IO biomarker
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CD19 (CD19 Molecule) • CD8 (cluster of differentiation 8) • OBSCN (Obscurin)
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CD19 expression • CD19 mutation