Molecular and Genetic Medicine

Cernea A

Publications

• Commentary
  The Effect of NOP16 Mutation in Chronic Lymphocytic Leukemia
  Author(s): Fernández-Martínez JL, De Andrés-Galiana EJ and Cernea AFernández-Martínez JL, De Andrés-Galiana EJ and Cernea A
  
  NOP16 was the third most important mutation (6.84%) in a reduced-size cohort of 117 patients with Chronic Lymphocytic Leukemia (CLL) whose most recurrent mutations were NOTCH1 (9.4%) and SF3B1 (8.55%). In this paper we analyzed the effect of the NOP16 mutation in gene expression. The NOP16 mutation was predicted with 100% accuracy using a small-scale signature formed by the 26 genes with the highest Fisher’s Ratio. SLC39A4 (ZIP4) and WARS are the most discriminatory genes of this mutation providing a predictive accuracy of 97.4%. The Fold Change analysis also confirmed a very important role of the light (IGKV3D-11, IGKC and IGLJ3) and heavy (IGHG1) chain immunoglobulins, SOX11, CCND1 and CHL1 . This analysis also highlights the importance of several mechanisms such as the ZIP4-related apopt.. Read More»
  DOI: 10.4172/1747-0862.1000295

  Abstract PDF