Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley +1 more source
The role of hydroxyurea in modulating miRNA expression in sickle cell disease: molecular mechanisms and therapeutic implications. [PDF]
Mirzaee F +3 more
europepmc +1 more source
Clinical value of miR-329-3p in thalassemia and its regulation of TNRC6B expression. [PDF]
Zhao Y, Gao J, Li Y, Li S, Li W, Cen M.
europepmc +1 more source
A functional overlap between actively transcribed genes and chromatin insulator elements. [PDF]
Cornell LJ +16 more
europepmc +1 more source
ABSTRACT CRISPR‐Cas9 systems revolutionized gene editing, but inherent drawbacks, namely DNA double‐strand breaks (DSBs) and the difficulty of achieving precise repairs (due to low HDR efficiency), led researchers to invent new, more accurate gene editing tools.
Melike Aliciaslan +3 more
wiley +1 more source
Protein Arginine Methyltransferases in γ-Globin Regulation and Sickle Cell Disease: Emerging Connections to Oxidative Stress. [PDF]
Chauhan W, Zennadi R.
europepmc +1 more source
First clinical and molecular characterization of two rare complex β-globin variants in Chinese population using third generation sequencing. [PDF]
Zhang L +4 more
europepmc +1 more source
CCND3 Suppression Ameliorates β-Thalassaemia in a Murine Disease Model: A Potential Therapeutic Strategy. [PDF]
Caria CA +9 more
europepmc +1 more source
Histone methyltransferase G9a crosstalks with H3K36 histone methyltransferases NSD3 and SETD2 to mediate gene activation. [PDF]
Shah A +4 more
europepmc +1 more source
A Deep Dive into the Globin Superfamily of Sharks, Skates, and Rays: Contrasting Patterns of Gene Loss and Retention Relative to Bony Vertebrates. [PDF]
Walt HK +5 more
europepmc +1 more source

