^
    Contact us  to learn more about
    our Premium Content:  News alerts, weekly reports and conference planners
    GENE:

    USH2A (Usherin)

    i
    Other names: USH2A, Usherin, Usher Syndrome 2A (Autosomal Recessive, Mild), Usher Syndrome Type IIa Protein, Usher Syndrome Type-2A Protein, RP39, USH2
    23d
    A Natural History Study With Hearing Loss Associated With GJB2, SLC26A4, OTOF, USH2A, MPZL2, and MT-RNR1 (ChiCTR2500111926)
    P=N/A, N=1000, Not yet recruiting, Eye & ENT Hospital of Fudan University; Eye & ENT Hospital of Fudan University
    New trial
    |
    USH2A (Usherin)
    1m
    Stem cell-based therapies for inherited retinal diseases - Translational advances and clinical evidence: A review. (PubMed, Biomol Biomed)
    Current research indicates feasible delivery methods (intravitreal, subretinal, or suprachoroidal) with generally acceptable safety profiles; however, functional improvements in vision are often inconsistent and temporary, and durable vision restoration remains unproven. Significant challenges persist, including immune rejection, tumorigenicity risks, weak engraftment, technical complexity, and regulatory barriers. These issues underscore the necessity for standardized manufacturing processes and well-controlled, long-term clinical trials to advance the field of IRD treatment.
    Review • Journal
    |
    USH2A (Usherin)
    4ms
    Identification and validation of selenium metabolism-related genes in lung adenocarcinoma prognosis using bioinformatics analysis. (PubMed, Front Genet)
    Within the HRG cohort, both cisplatin and gemcitabine demonstrated significant sensitivity. This study identified four prognostic genes in LUAD and examined their associated mechanisms of action, which may contribute to the development of novel treatment strategies. The integration of immune characterization with drug sensitivity analysis offers valuable insights for stratified therapy.
    Journal
    |
    KEAP1 (Kelch Like ECH Associated Protein 1) • CD4 (CD4 Molecule) • USH2A (Usherin) • KYNU (Kynureninase)
    |
    KEAP1 mutation
    |
    cisplatin • gemcitabine
    6ms
    Primary Acute Myeloid Leukemia with Concomitant BCR∷ABL and NPM1 Mutation. (PubMed, Clin Lab)
    AML with BCR∷ABL cases are relatively rare, and the establishment of standardized diagnostic and treatment strategies is still lacking. Our research findings emphasize the importance of including BCR∷ABL detection in the diagnostic examination of AML to enable the provision of the most appropriate risk classification and treatment options for patients.
    Journal • IO biomarker
    |
    ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • NPM1 (Nucleophosmin 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CD38 (CD38 Molecule) • KMT2C (Lysine Methyltransferase 2C) • NOTCH2 (Notch 2) • CD123 (Interleukin 3 Receptor Subunit Alpha) • CD33 (CD33 Molecule) • NCAM1 (Neural cell adhesion molecule 1) • ITGAM (Integrin, alpha M) • CD7 (CD7 Molecule) • IL3RA (Interleukin 3 Receptor Subunit Alpha) • USH2A (Usherin) • ANPEP (Alanyl Aminopeptidase, Membrane)
    |
    NPM1 mutation
    |
    Venclexta (venetoclax) • dasatinib • azacitidine
    7ms
    A lipid metabolism-related gene signature predicts prognosis after tamoxifen treatment in ER + breast cancer and reflects tumor microenvironment heterogeneity through single-cell analysis. (PubMed, BMC Med Genomics)
    The signature captures lipid metabolic reprogramming and immunosuppression, providing a biomarker for prognosis and precision therapy in tamoxifen-treated ER + breast cancer.
    Journal • Gene Signature • BRCA Biomarker
    |
    IL6 (Interleukin 6) • KMT2C (Lysine Methyltransferase 2C) • SPP1 (Secreted Phosphoprotein 1) • USH2A (Usherin) • SIRPA (Signal Regulatory Protein Alpha)
    |
    tamoxifen
    10ms
    Unraveling breast cancer response to neoadjuvant chemotherapy through integrated genomic, transcriptomic, and circulating tumor DNA analysis. (PubMed, Breast Cancer Res)
    Our comprehensive multi-omics analysis identified promising biomarkers predictive of treatment response and survival in BC patients receiving NAC followed by surgery. These findings underscore the importance of early tumor assessment for improved patient stratification and prognostication.
    Journal • Circulating tumor DNA
    |
    USH2A (Usherin)
    over1year
    An exploratory clinical study to evaluate the safety and preliminary efficacy of RM-101 injection in patients with retinitis pigmentosa due to mutation in exon 13 of the USH2A gene (ChiCTR2400090137)
    P1, N=4, Recruiting, Xiamen Eye Centre affiliated to Xiamen University; Xiamen Eye Centre affiliated with Xiamen University
    New P1 trial
    |
    USH2A (Usherin)
    over1year
    Breast cancer genomic analyses reveal genes, mutations, and signaling networks. (PubMed, Funct Integr Genomics)
    We found that BC panels share only seven genes. These findings show that BC arises from genetic disruptions evident in BC signaling and protein networks.
    Journal
    |
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • KMT2C (Lysine Methyltransferase 2C) • CDH1 (Cadherin 1) • MUC16 (Mucin 16, Cell Surface Associated) • AHNAK2 (AHNAK Nucleoprotein 2) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • USH2A (Usherin) • GATA3 (GATA binding protein 3) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1)
    |
    TP53 mutation
    over1year
    Prognostic mutations identified by whole-exome sequencing and validation of the Molecular International Prognostic Scoring System in myelodysplastic syndromes after allogeneic haematopoietic stem cell transplantation. (PubMed, Br J Haematol)
    Mutations in DNAH5 and LOXHD1 were risk factors for worse RFS. The Molecular International Prognostic Scoring System retained its independent prognostic significance for RFS after multivariate analysis.
    Journal
    |
    NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • SETBP1 (SET Binding Protein 1) • USH2A (Usherin)
    over1year
    A New Diagnostic Paradigm for Retinitis Pigmentosa Secondary to USH2A Pathogenic Variants (clinicaltrials.gov)
    P=N/A, N=60, Not yet recruiting, IRCCS Ospedale San Raffaele
    New trial
    |
    USH2A (Usherin)
    over1year
    Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius) (clinicaltrials.gov)
    P2/3, N=7, Terminated, Laboratoires Thea | N=81 --> 7 | Active, not recruiting --> Terminated; Business decision
    Enrollment change • Trial termination
    |
    USH2A (Usherin)