eLife21d
PRMT1-Mediated Metabolic Reprogramming Promotes Leukemogenesis
This study reveals that PRMT1 overexpression drives tumorigenesis of acute megakaryocytic leukemia (AMKL) and that targeting PRMT1 is a viable approach for treating AMKL. While the evidence, based ...
Frontiers25d
A case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome
1 Department of Health Management Center, Qilu Hospital of Shandong University Dezhou Hospital (Dezhou People’s Hospital), Shandong, China 2 Department of General Practice, Qilu Hospital of Shandong ...
jmg.bmj1mon
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
Correspondence to Quentin Thomas, Inserm UMR1231 team GAD, University of Burgundy, Dijon 21000, France; quentin.thomas{at}chu-dijon.fr Objective To assess the efficiency and relevance of clinical ...
Frontiers1y
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis
Introduction: Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders. Retrospective data reanalysis has demonstrated strong ...