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  1. ...suboptimally in our ESCC and LUAD_Xing training data sets (AUCPRC 0.028 vs. 0.592 of our gene signature in ESCC and 0.244 vs. 0.513 in LUAD_Xing).Calculation of cancer cell–specific EMT phenotypes using bulk RNA-seq data offers a promising alternative to assess their link with clinical characteristics in cases...
  2. ...framework to describe gene-gene relationships and are comprised of nodes that represent genes and edges linking coexpressed genes (Stuart et al. 2003). A comprehensive catalog of gene coexpression relationships has the potential to characterize genes with unknown functions (Schlitt et al. 2003), identify...
  3. .... 2009; Beagan and Phillips-Cremins 2020). Furthermore, they are characterized by accumulation of CTCF and cohesin, which can be identified by ChIP-seq. These idiosyncratic features of TAD borders allow for their precise identification using Hi-C, ChIA-PET, and ChIP-seq data (Sadowski et al. 2019).To...
  4. ...the importance of considering both types of measurements for understanding FMR1 function. The hubs fell in the common clusters (Cluster #16: RB1, Cluster #19: AP2A1, and Cluster #25: PTPN11, FYN) as well as in cell type–specific clusters (e.g., NPC-specific hubs, Cluster #4: ATM, Cluster #15: HSPA4, and neuron...
  5. ..., the copy counts estimated by qPCR are shown in purple (error bars show standard deviation), and copy counts estimated by CouGaR are shown as orange bars. In all cases, the qPCR results match the predicted copy counts. Dzamba et al. 110 Genome Research www..org Identification and characterization of CGRs...
  6. ...53 activity is abrogated by other oncogenic events, such as hyperactivation of its endogenous repressors MDM2 or MDM4. Despite identification of hundreds of genes regulated by this transcription factor, it remains unclear which direct target genes and downstream pathways are essential for the tumor...
  7. ...enriched in msHSBs and in EBRs (Methods).Mammalian msHSBs were enriched in genes related to developmental process, biological adhesion, and meiosis I (including SPO11, RAD51, and ATM genes), among other GO terms (Supplemental Fig. S4) consistent with our previous findings (Larkin et al. 2009). On the other...
  8. ...et al. 2008). The key contributors to the association of these pathways contain the core genes involved in checkpoint response to DNA damage such as TP53, CHEK2 (also called CHK2), and ATM (Supplemental Table S2). In addition, the DNA damage model indicates the involvement of apoptosis and DNA...
  9. ...and ATM dysfunction (Wang et al. 2011; Raa et al. 2012). Other genes with altered splicing in SF3B1-mutated cells include the following: FCER2, a B-cell specific antigen that has an essential Transcriptome characterization of CLL Genome Research 215 www..org role in B-cell growth and differentiation; TEAD...
  10. .... , Ito H. , Nagase T. , Nomura N. , Hori T. ( 1996 ) Identification and characterization of a new gene physically linked to the ATM gene. Genome Res. 6 : 439 – 447 . ↵ Jackson I.J. ( 1991 ) A reappraisal of non-consensus mRNA splice sites. Nucleic Acids Res. 19 : 3795 – 3798 . ↵ Jurka J. , Klonowski P...
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