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A Kinetic Model for Compound Heterozygous Pathogenic Variants in Tyrosyl-tRNA Synthetase Gene YARS2-Associated Neonatal Phenotype

J Biol Chem. 2024 Dec 13:108092. doi: 10.1016/j.jbc.2024.108092. Online ahead of print. ABSTRACT Human genetic disorders are often caused by mutations of compound heterozygosity, where …

Direct delivery of Cas-embedded cytosine base editors as ribonucleoprotein complexes for efficient and accurate editing of clinically relevant targets

Nucleic Acids Res. 2024 Dec 16:gkae1217. doi: 10.1093/nar/gkae1217. Online ahead of print. ABSTRACT Recently, cytosine base editors (CBEs) have emerged as a promising therapeutic tool …

Improving the detection of congenital syphilis: reviewing test utility and adherence to recommendations

Pathology. 2024 Nov 16:S0031-3025(24)00299-X. doi: 10.1016/j.pathol.2024.09.010. Online ahead of print. ABSTRACT Western Australia (WA) has experienced a resurgence of congenital syphilis. Appropriate microbiology testing of …

Feasibility and safety of autologous cord blood derived cell administration in extremely preterm infants: a single-centre, open-label, single-arm, phase I trial (CORD-SaFe study)

EBioMedicine. 2024 Dec 6:105492. doi: 10.1016/j.ebiom.2024.105492. Online ahead of print. ABSTRACT BACKGROUND: Evidence from preclinical studies in small and large animal models has shown neuroprotective …