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JOURNAL ARTICLE
Nicole Thomas, Kostiantyn Dreval, Daniela S Gerhard, Laura K Hilton, Jeremy S Abramson, Richard F Ambinder, Stefan Barta, Nancy L Bartlett, Jeffrey Bethony, Kishor Bhatia, Jay Bowen, Anthony C Bryan, Ethel Cesarman, Corey Casper, Amy Chadburn, Manuela Cruz, Dirk P Dittmer, Maureen A Dyer, Pedro Farinha, Julie M Gastier-Foster, Alina S Gerrie, Bruno M Grande, Timothy Greiner, Nicholas B Griner, Thomas G Gross, Nancy L Harris, John D Irvin, Elaine S Jaffe, David Henry, Rebecca Huppi, Fabio E Leal, Michael S Lee, Jean Paul Martin, Marie-Reine Martin, Sam M Mbulaiteye, Ronald Mitsuyasu, Vivian Morris, Charles G Mullighan, Andrew J Mungall, Karen Mungall, Innocent Mutyaba, Mostafa Nokta, Constance Namirembe, Ariela Noy, Martin D Ogwang, Abraham Omoding, Jackson Orem, German Ott, Hilary Petrello, Stefania Pittaluga, James D Phelan, Juan Carlos Ramos, Lee Ratner, Steven J Reynolds, Paul G Rubinstein, Gerhard Sissolak, Graham Slack, Shaghayegh Soudi, Steven H Swerdlow, Alexandra Traverse-Glehen, Wyndham H Wilson, Jasper Wong, Robert Yarchoan, Jean C ZenKlusen, Marco A Marra, Louis M Staudt, David W Scott, Ryan D Morin
Burkitt lymphoma (BL) accounts for most pediatric non-Hodgkin lymphomas, being less common but significantly more lethal when diagnosed in adults. Much of the knowledge of the genetics of BL thus far has originated from the study of pediatric BL (pBL), leaving its relationship to adult BL (aBL) and other adult lymphomas not fully explored. We sought to more thoroughly identify the somatic changes that underlie lymphomagenesis in aBL and any molecular features that associate with clinical disparities within and between pBL and aBL...
February 23, 2023: Blood
#22
JOURNAL ARTICLE
Michelle Tu, Shigeki Miyamoto
RHOA (ras homolog family member A) is a small G-protein that regulates a range of cellular processes including cell growth and survival. RHOA is a proximal downstream effector of G protein-coupled receptor coupling to GNA12/Gα12 -GNA13/Gα13 proteins, and is activated in response to stretch and oxidative stress, functioning as a stress-response molecule. It has been demonstrated that RHOA signaling provides cardioprotection through inhibition of mitochondrial death pathways. Mitochondrial integrity is preserved not only by inhibition of mitochondrial death pathways but also by mitochondrial quality control mechanisms including mitophagy...
October 6, 2022: Autophagy
#23
JOURNAL ARTICLE
Alfredo Rivas-Delgado, Ferran Nadeu, Marcio Andrade-Campos, Cristina López, Anna Enjuanes, Pablo Mozas, Gerard Frigola, Luis Colomo, Blanca Sanchez-Gonzalez, Neus Villamor, Sílvia Beà, Elías Campo, Antonio Salar, Eva Giné, Armando López-Guillermo, Beatriz Bellosillo
High-throughput sequencing of cell-free DNA (cfDNA) has emerged as a promising noninvasive approach in lymphomas, being particularly useful when a biopsy specimen is not available for molecular analysis, as it frequently occurs in primary mediastinal large B-cell lymphoma (PMBL). We used cfDNA for genomic characterization in 20 PMBL patients by means of a custom NGS panel for gene mutations and low-pass whole-genome sequencing (WGS) for copy number analysis (CNA) in a real-life setting. Appropriate cfDNA to perform the analyses was obtained in 18/20 cases...
June 28, 2022: Diagnostics
#24
JOURNAL ARTICLE
Chutirat Jirabanditsakul, Sumana Dakeng, Chutima Kunacheewa, Yaowalak U-Pratya, Weerapat Owattanapanich
Multiple myeloma is an incurable malignancy of plasma cells resulting from impaired terminal B cell development. Almost all patients with multiple myeloma eventually have a relapse. Many studies have demonstrated the importance of the various genomic mutations that characterize multiple myeloma as a complex heterogeneous disease. In recent years, next-generation sequencing has been used to identify the genomic mutation landscape and clonal heterogeneity of multiple myeloma. This is the first study, a prospective observational study, to identify somatic mutations in plasma cell disorders in the Thai population using targeted next-generation sequencing...
January 2022: Technology in Cancer Research & Treatment
#25
JOURNAL ARTICLE
Zichun Pan, Zhousan Zheng, Wen Ye, Cui Chen, Sheng Ye
BACKGROUND: This study aimed to explore the expression and clinical implication of guanine nucleotide-binding protein alpha 13 (GNA13) in esophageal squamous cell carcinoma (ESCC). METHODS: We first employed western blot analysis to test the GNA13 protein expression level in ESCC tissues. Subsequently, we used immunohistochemistry assays to detect the GNA13 in ESCC specimens from 173 patients who underwent esophagectomy. Survival analysis was performed to define the impact of GNA13 expressions on the prognosis of the ESCC patients based on the clinical and follow-up data...
September 2022: International Journal of Biological Markers
#26
JOURNAL ARTICLE
Stefania Tuveri, Koen Debackere, Lukas Marcelis, Nicolas Dierckxsens, Jonas Demeulemeester, Eftychia Dimitriadou, Daan Dierickx, Pierre Lefesvre, Karen Deraedt, Carlos Graux, Lucienne Michaux, Jan Cools, Thomas Tousseyn, Joris Robert Vermeesch, Iwona Wlodarska
Development of primary mediastinal B-cell lymphoma (PMBL) is driven by cumulative genomic aberrations. We discovered a unique copy-neutral loss of heterozygosity (CN-LOH) landscape of PMBL which distinguishes this tumor from other B-cell malignancies, including the biologically related diffuse large B-cell lymphoma. Using single nucleotide polymorphism array analysis we identified large-scale CN-LOH lesions in 91% (30/33) of diagnostic PMBLs and both investigated PMBL-derived cell lines. Altogether, the cohort showed 157 extra-large (25...
October 2022: Genes, Chromosomes & Cancer
#27
JOURNAL ARTICLE
Jianrong Na, Wei Zhou, Mei Yin, Yingchun Hu, Xuan Ma
The purpose of this study aimed to figure out the role of GNA13 in lung squamous cell carcinoma (LUSC) and the underlying mechanism. Male BALB/c mice were used to construct LUSC mouse model. Cell growth was examined using MTT and colony formation assay. Cell migration and invasion was determined using wound healing and transwell assay. The expression and phosphorylation of protein was detected by Western blotting assay. Immunohistochemistry staining was used to observe the tumor growth and metastasis. GNA13 was overexpressed in both LUSC tissues and LUSC cell lines...
June 2022: Tissue & Cell
#28
REVIEW
Zhen-Jie Fu, Yan Chen, Yu-Qin Xu, Mei-Ai Lin, Hang Wen, Yi-Tao Chen, Pei-Lei Pan
miR-30b, which is encoded by the gene located on chromosome 8q24.22, plays an important role in a variety of diseases. In most types of tumors, miR-30b significantly inhibits the proliferation, migration, and invasion of cancer cells through the regulation of target genes. Moreover, miR-30b can inhibit the PI3K/AKT signaling pathway through the regulation of EGFR, AKT, Derlin-1, GNA13, SIX1, and other target genes, thus inhibiting the EMT process of tumor cells and promoting apoptosis. In addition, miR-30 plays a significant role in alleviating drug resistance in tumor cells...
2022: Open Life Sciences
#29
JOURNAL ARTICLE
Ekin Güney, Calixto-Hope G Lucas, Zhongxia Qi, Jingwei Yu, Ruth Zhang, Robert S Ohgami, James L Rubenstein, Daniel R Boué, Kristian Schafernak, Gerald B Wertheim, Sonika Dahiya, Lisa Giulino-Roth, Andishe Attarbaschi, Matthew J Barth, Shalin Kothari, Oussama Abla, Adam L Cohen, Joe S Mendez, Andrew Bollen, Arie Perry, Tarik Tihan, Melike Pekmezci, David A Solomon, Kwun Wah Wen
No abstract text is available yet for this article.
May 24, 2022: Blood Advances
#30
JOURNAL ARTICLE
Chunhui Zhou, Yong Cui, Haomin Sun, Fan Yang, Hao Zhao, Luokai Huangfu, Jianning Zhang
BACKGROUND: Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin's lymphoma, and hence, a comprehensive understanding based on the gene expression profile is imperative. Although several studies have identified some critical mutant genes of DLBCL, the disease in the central nervous system has not been investigated clearly. This study is aimed to identify some novel and important mutant genes of DLBCL in central nervous system. METHODS: A total of 156 cases of central nervous tumors were collected from 2016 to 2018, in which the DLBCL cases were confirmed by H&E staining and immunohistochemistry...
June 2021: Translational Cancer Research
#31
JOURNAL ARTICLE
Vincent Camus, Mathieu Viennot, Emilie Lévêque, Pierre-Julien Viailly, David Tonnelet, Elena-Liana Veresezan, Fanny Drieux, Pascaline Etancelin, Sydney Dubois, Aspasia Stamatoullas, Hervé Tilly, Elodie Bohers, Fabrice Jardin
Few data exist concerning circulating tumor DNA (ctDNA) relevance in primary mediastinal B-cell lymphoma (PMBL). To explore this topic, we applied a 9-gene next-generation sequencing pipeline to samples from forty-four PMBL patients (median age 36.5 years). The primary endpoint was a similarity between paired biopsy/plasma mutational profiles. We detected at least one variant in 32 plasma samples (80%). The similarity between the biopsy and ctDNA genetic profiles for the 30 patients with paired mutated biopsy/plasma samples was greater than or equal to 80% in 19 patients (63...
January 25, 2022: Leukemia & Lymphoma
#32
JOURNAL ARTICLE
Fan Gao, Lei Tian, Hui Shi, Peihao Zheng, Jing Wang, Fei Dong, Kai Hu, Xiaoyan Ke
In our research, we screened 1,495 documents, compiled the whole-exome sequencing data of several studies, formed a data set including 92 observations of RRDLBCL (Relapsed and refractory diffuse large B-cell lymphoma), and performed association analysis on the high-frequency mutations among them. The most common mutations in the data set include TTN, KMT2D, TP53, IGLL5, CREBBP, BCL2, MYD88, and SOCS1 etc. Among these, CREBBP, KMT2D, and BCL2 have a strong association with each other, and SOCS1 has a strong association with genes such as STAT6, ACTB, CIITA, ITPKB, and GNA13...
2021: Frontiers in Genetics
#33
JOURNAL ARTICLE
Yan Liu, Zepeng Du, Zhennan Xu, Tao Jin, Ke Xu, Meihui Huang, Shaohong Wang, Yuyu Zheng, Mingfa Liu, Haixiong Xu
Temozolomide (TMZ), one of the few effective drugs used during adjuvant therapy, could effectively prolong the overall survival (OS) of glioma patients. In our previous study, the mRNA level of G Protein Subunit Alpha 13 (GNA13) was found to be inversely correlated with OS and was therefore identified as a potential biomarker for the prognosis of glioma. Henceforth, this study aims to identify the molecular mechanism of GNA13 in enhancing TMZ sensitization through bioinformatic analyses of GSE80729 and GSE43452 and other experiments...
2021: American Journal of Translational Research
#34
JOURNAL ARTICLE
Rachel L Y Wong, Megan R E Wong, Chik Hong Kuick, Seyed Ehsan Saffari, Meng Kang Wong, Sheng Hui Tan, Khurshid Merchant, Kenneth T E Chang, Matan Thangavelu, Giridharan Periyasamy, Zhi Xiong Chen, Prasad Iyer, Enrica E K Tan, Shui Yen Soh, N Gopalakrishna Iyer, Qiao Fan, Amos H P Loh
Neuroblastoma is the commonest extracranial pediatric malignancy. With few recurrent single nucleotide variations (SNVs), mutation-based precision oncology approaches have limited utility, but its frequent and heterogenous copy number variations (CNVs) could represent genomic dependencies that may be exploited for personalized therapy. Patient-derived cell culture (PDC) models can facilitate rapid testing of multiple agents to determine such individualized drug-responses. Thus, to study the relationship between individual genomic aberrations and therapeutic susceptibilities, we integrated comprehensive genomic profiling of neuroblastoma tumors with drug screening of corresponding PDCs against 418 targeted inhibitors...
2021: Frontiers in Oncology
#35
JOURNAL ARTICLE
Yonglan Liao, Zhicheng Wang, Leonardo S Glória, Kai Zhang, Cuixia Zhang, Rui Yang, Xinmao Luo, Xianbo Jia, Song-Jia Lai, Shi-Yi Chen
Growth is a complex trait with moderate to high heritability in livestock and must be described by the longitudinal data measured over multiple time points. Therefore, the used phenotype in genome-wide association studies (GWAS) of growth traits could be either the measures at the preselected time point or the fitted parameters of whole growth trajectory. A promising alternative approach was recently proposed that combined the fitting of growth curves and estimation of single-nucleotide polymorphism (SNP) effects into single-step nonlinear mixed model (NMM)...
2021: Frontiers in Genetics
#36
REVIEW
Suhail Ahmed Kabeer Rasheed, Lalitha Vaishnavi Subramanyan, Wei Kiang Lim, Udhaya Kumari Udayappan, Mei Wang, Patrick J Casey
G12 proteins comprise a subfamily of G-alpha subunits of heterotrimeric GTP-binding proteins (G proteins) that link specific cell surface G protein-coupled receptors (GPCRs) to downstream signaling molecules and play important roles in human physiology. The G12 subfamily contains two family members: Gα12 and Gα13 (encoded by the GNA12 and GNA13 genes, respectively) and, as with all G proteins, their activity is regulated by their ability to bind to guanine nucleotides. Increased expression of both Gα12 and Gα13, and their enhanced signaling, has been associated with tumorigenesis and tumor progression of multiple cancer types over the past decade...
January 2022: Oncogene
#37
JOURNAL ARTICLE
Leyland Fraser, Karolina Wasilewska-Sakowska, Łukasz Zasiadczyk, Elżbieta Piątkowska, Krzysztof Karpiesiuk
This study aimed to characterize the protein composition of fractionated seminal plasma (SP) by liquid chromatography mass spectrometry (LC-MS/MS) analysis and investigate its effects on survival of frozen-thaw (FT) boar spermatozoa following storage. Seminal plasma (SP) was fractionated by gel filtration chromatography to give two fractions, SP1 with more than 40 kDa (>40 kDa) and SP2 with less than 40 kDa (<40 kDa). SP1 and SP2 were subjected to LC-MS/MS and bioinformatics analysis. Following cryopreservation, FT boar semen ( n = 7) was thawed in Beltsville Thawing Solution (BTS), BTS + SP1 or BTS + SP2, stored at different periods and subjected to post-thaw (PT) quality assessment...
October 2, 2021: Genes
#38
JOURNAL ARTICLE
Julia Richter, Katharina John, Annette M Staiger, Andreas Rosenwald, Katrin Kurz, Ulf Michgehl, German Ott, Sören Franzenburg, Christian Kohler, Jasmin Finger, Ilske Oschlies, Ulrike Paul, Reiner Siebert, Rainer Spang, Birgit Burkhardt, Wolfram Klapper
Sporadic Burkitt lymphoma (BL) is the most frequent tumour of children and adolescents but a rare subtype of lymphomas in adults. To date most molecular data have been obtained from lymphomas arising in the young. Recently, Epstein-Barr virus (EBV) positive and negative BL in young patients was shown to differ in molecular features. In the present study, we present a large age-overarching cohort of sporadic BL (n = 162) analysed by immunohistochemistry, translocations of MYC proto-oncogene, basic helix-loop-helix transcription factor (MYC), B-cell leukaemia/lymphoma 2 (BCL2) and B-cell leukaemia/lymphoma 6 (BCL6) and by targeted sequencing...
February 2022: British Journal of Haematology
#39
JOURNAL ARTICLE
Linghui Zhou, Houli Zhao, Yang Shao, Xin Chen, Ruimin Hong, Linqin Wang, Fang Ni, Arnon Nagler, Yongxian Hu, He Huang
Background: Circulating tumor DNA (ctDNA) released from tumor cells carries the tumor-associated genetic and epigenetic characteristics of cancer patients. Next-generation sequencing (NGS) facilitates the application of ctDNA profiling for identification and monitoring of minimal residual disease (MRD) in cancer, and can serve as the guidance for precise treatment. Methods: In this study, we profiled genomic alterations in the baseline, relapsed, and progressive tumor samples of eight diffuse large B cell lymphoma (DLBCL) patients (NCT03118180) after chimeric antigen receptor T (CAR-T) cell therapy...
2021: Journal of Cancer
#40
JOURNAL ARTICLE
Miguel Alcoceba, María García-Álvarez, M Carmen Chillón, Cristina Jiménez, Alejandro Medina, Alicia Antón, Oscar Blanco, Luis G Díaz, Pilar Tamayo, Verónica González-Calle, María Jesús Vidal, Rebeca Cuello, Francisco Javier Díaz Gálvez, José Antonio Queizán, Alejandro Martín, Marcos González, Ramón García-Sanz, M Eugenia Sarasquete
The Hodgkin lymphoma (HL) genomic landscape is hardly known due to the scarcity of tumour cells in the tissue. Liquid biopsy employing circulating tumour DNA (ctDNA) can emerge as an alternative tool for non-invasive genotyping. By using a custom next generation sequencing (NGS) panel in combination with unique molecule identifiers, we aimed to identify somatic variants in the ctDNA of 60 HL at diagnosis. A total of 277 variants were detected in 36 of the 49 samples (73·5%) with a good quality ctDNA sample...
July 27, 2021: British Journal of Haematology
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