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    GENE:

    ENAM (Enamelin)

    i
    Other names: ENAM, Enamelin, Amelogenesis Imperfecta 2, Hypocalcification (Autosomal Dominant), AIH2, ADAI, AI1C
    Associations

    News

    Trials
    1year
    A Neural Implant for Cytostatic Hypothermia in Swine (P4-5.008). (PubMed, Neurology)
    Dr. Patel has nothing to disclose.
    Journal
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    ENAM (Enamelin)
    1year
    Low Middle Income Countries and Academic Productivity of Neurosurgery: A Quantitative Analysis From Pakistan. (PubMed, J Clin Neurosci)
    While there has been a substantial increase in neurosurgical publications from Pakistan in recent years, significant regional disparities and challenges persist. Addressing these issues is crucial to fostering a more robust research environment in neurosurgery within the country.
    Review • Journal • Surgery
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    ENAM (Enamelin)
    2years
    Correlation of exploration of immune profile and genomic with microsatellite stable/tumor mutational burden-low colorectal cancer. (ASCO-GI 2024)
    Findings from this analysis highlight a subset of MSS/TMB-L CRC patients, with features of favorable anti-tumor immune response and unique mutation profile, that might derive benefit from immunotherapy. Further investigation is underway to further explore the genomic correlates in this subset of patients.
    Tumor mutational burden • IO biomarker
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    TMB (Tumor Mutational Burden) • CD8 (cluster of differentiation 8) • IL21 (Interleukin 21) • ENAM (Enamelin)
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    TMB-L
    2years
    Development of a Targeted NGS Panel for Hematologic Malignancies According to Who/ICC 2022 Guidelines (ASH 2023)
    The old targeted DNA/RNA NGS panel was successfully updated according to the 2022 WHO and ICC guidelines, and can be used to accurately and efficiently detect the genetic variants of blood cancers.
    Next-generation sequencing
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    FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • CDK6 (Cyclin-dependent kinase 6) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • HOXA9 (Homeobox A9) • P2RY8 (P2Y Receptor Family Member 8) • CBFA2T3 (CBFA2/RUNX1 Partner Transcriptional Co-Repressor 3) • CDX2 (Caudal Type Homeobox 2) • GLIS2 (GLIS Family Zinc Finger 2) • KAT6A (Lysine Acetyltransferase 6A) • KDM5A (Lysine Demethylase 5A) • TAF15 (TATA-Box Binding Protein Associated Factor 15) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B) • NUTM1 (NUT Midline Carcinoma Family Member 1) • ZBTB16 (Zinc Finger And BTB Domain Containing 16) • ZEB2 (Zinc Finger E-Box Binding Homeobox 2) • BCORL1 (BCL6 Corepressor Like 1) • ENAM (Enamelin) • HNRNPUL1 (Heterogeneous Nuclear Ribonucleoprotein U Like 1) • PRDM16 (PR/SET Domain 16) • PRPF8 (Pre-MRNA Processing Factor 8)
    over3years
    A Risk-Adapted Study to Assess the Efficacy of Enasidenib and Subsequent Response-Driven Addition of Azacitidine for Newly Diagnosed IDH2-Mutant AML Patients: 3-Year Follow-up (ASH 2022)
    P1/2 | "At three-year follow-up, ENAm continues to be a safe and well-tolerated therapy in ND patients ≥ 60 years old with IDH2m AML both alone and with the risk-adapted addition of AZA. CR/CRi rates are high (48%, adjusted 95% CI 30.3-60.5) and remissions are durable (11.1 months, 95% CI 5.6-41.4). The composite CR (cCR) rate of ENAm appears comparable to the cCR rate achieved with ENA + AZA in AG221-AML-005, a phase 2 study comparing ENA + AZA to AZA alone in ND AML."
    Clinical
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    IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ENAM (Enamelin)
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    IDH2 mutation • MET mutation • IDH2 R140 • IDH2 R172
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    azacitidine • Idhifa (enasidenib)