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  • Open Access


    A genetic variant study of bortezomib-induced peripheral neuropathy in Chinese multiple myeloma patients


    Oncology Research, Vol.32, No.5, pp. 955-963, 2024, DOI:10.32604/or.2023.043922

    Abstract Background: Bortezomib results in peripheral neuropathy (PN) in approximately 50% of patients, during multiple myeloma (MM) treatment, a complication known as Bortezomib-induced peripheral neuropathy (BIPN). The drug response varies among individuals. Genetic factor may play an important role in BIPN. Methods: A next-generation sequencing (NGS) panel containing 1659 targets from 233 genes was used to identify risk variants for developing BIPN in 204 MM patients who received bortezomib therapy. mRNA expression of MTHFR and ALDH1A1 in 62 peripheral blood samples was detected by real-time quantitative PCR (RT-qPCR). Serum homocysteine (Hcy) levels were detected in 40 samples… More > Graphic Abstract

    A genetic variant study of bortezomib-induced peripheral neuropathy in Chinese multiple myeloma patients

  • Open Access


    Bronchoalveolar lavage fluid metagenomic next-generation sequencing assay for identifying pathogens in lung cancer patients


    BIOCELL, Vol.48, No.4, pp. 623-637, 2024, DOI:10.32604/biocell.2024.030420

    Abstract Background: For patients with lung cancer, timely identification of new lung lesions as infectious or non-infectious, and accurate identification of pathogens is very important in improving OS of patients. As a new auxiliary examination, metagenomic next-generation sequencing (mNGS) is believed to be more accurate in diagnosing infectious diseases in patients without underlying diseases, compared with conventional microbial tests (CMTs). We designed this study to find out whether mNGS has better performance in distinguishing infectious and non-infectious diseases in lung cancer patients using bronchoalveolar lavage fluid (BALF). Materials and Methods: This study was a real-world retrospective review… More >

  • Open Access


    BitmapAligner: Bit-Parallelism String Matching with MapReduce and Hadoop

    Mary Aksa1, Junaid Rashid2,*, Muhammad Wasif Nisar1, Toqeer Mahmood3, Hyuk-Yoon Kwon4, Amir Hussain5

    CMC-Computers, Materials & Continua, Vol.68, No.3, pp. 3931-3946, 2021, DOI:10.32604/cmc.2021.016081

    Abstract Advancements in next-generation sequencer (NGS) platforms have improved NGS sequence data production and reduced the cost involved, which has resulted in the production of a large amount of genome data. The downstream analysis of multiple associated sequences has become a bottleneck for the growing genomic data due to storage and space utilization issues in the domain of bioinformatics. The traditional string-matching algorithms are efficient for small sized data sequences and cannot process large amounts of data for downstream analysis. This study proposes a novel bit-parallelism algorithm called BitmapAligner to overcome the issues faced due to… More >

  • Open Access


    Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries

    Nelly Sabbaghian1, Maria C. Digilio2, Gillian M. Blue3,4, Timothée Revil5, David S. Winlaw3,4, William D. Foulkes1,6

    Congenital Heart Disease, Vol.13, No.3, pp. 401-406, 2018, DOI:10.1111/chd.12578

    Abstract Objective: We previously identified a pathogenic germline DICER1 variant in a child with transposition of the great arteries who was a member of a family with DICER1 syndrome. In view of a report linking DICER1 knockout in murine cardiomyocytes to cardiac outflow defects, we investigated the involvement of DICER1 in transposition of the great arteries.
    Design: We used Fluidigm access array followed by next generation sequencing to screen for variants in the coding exons, their exon/intron boundaries and the 30 untranslated region of DICER1 in patient DNA.
    Cases: Germline DNA was collected from 129 patients with either sporadic or familial More >

  • Open Access


    Overview of genetic causes of recurrent miscarriage and the diagnostic approach

    Tarek A ATIA

    BIOCELL, Vol.43, No.4, pp. 253-262, 2019, DOI:10.32604/biocell.2019.08180

    Abstract Recurring miscarriage (RM) is a frustrating reproductive complication with variable etiology. Numerous genetic defects have been known to play a crucial role in the etiology of RM. Chromosomal abnormalities are frequently detected, while other genetic defects cannot be diagnosed through routine research, such as cryptic chromosomal anomalies, single nucleotide polymorphism, single-gene defect, and gene copy number variation. Diagnostic laboratories have recently used variable advanced techniques to detect potential genetic abnormalities in couples with RM and/or in products of conception. Here we aim to summarize the known genetic causes of RM, with a focus on the More >

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