Author

Qin Cai

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Open access Oct 2026

Loss of protein function resulting in severe phenotypes of X-linked myotubular myopathy caused by novel synonymous and splice-site variants in the MTM1 gene.

BACKGROUND X-linked myotubular myopathy (XLMTM) is a severe, often neonatally lethal congenital neuromuscular disorder caused by pathogenic variants in the MTM1 gene. Affected neonates typically present with profound hypotonia, generalized muscle weakness, and respiratory insufficiency requiring immediate ventilatory s...

Jun-Fang Wang, Qin Cai, Wuhen Xu et al. · Pediatrics and Neonatology · 0 citations

Open access Sep 2026

Precision base-editing of the cryptic 3’ acceptor site to correct the RNA splicing defect of β654-thalassemia

β-Thalassemia is one of the most common inherited disorders worldwide and is caused by mutations affecting β-globin production. β654 mutation (IVS2-654, C > T) is one of the most frequently occurring β-thalassemia alleles in Han Chinese population, which activates a cryptic 3′ splice site and leads to aberrant RNA spli...

Dan Lu, Xiu-Li Gong, Xin-Bing Guo et al. · Molecular Biomedicine · 0 citations

Open access Sep 2026

Performance comparison and clinical validation of two rapid direct identification and antimicrobial susceptibility testing approaches for pathogens isolated from positive blood cultures in children

Objective Rapid species identification and antimicrobial susceptibility testing (AST) for bloodstream infections (BSIs) are critical for timely and targeted therapy. This study evaluated the clinical performance of two rapid methods (HBL rapid method and rapid method with short-term culture) against the routine standar...

F. Pan, Fang-Yuan Yu, Tian-Dong Zhang et al. · Frontiers in Cellular and In... · 0 citations