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Author

Xiao-Ze Li

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Open access Oct 2026

A P2RX2 exon-2 complex indel disrupts splicing and reduces P2X2 output: implications for DFNA41 and variable expressivity

P2RX2 encodes the ATP-gated P2X2 receptor associated with autosomal dominant non-syndromic hearing loss 41 (DFNA41). DFNA41 is characterized by progressive sensorineural hearing loss and an increased susceptibility to acoustic trauma. However, the specific phenotypic consequences of truncating or splice-altering...

Yi-Lun Tao, Wen-Xia Song, Li-Hong Wang et al. · 0 citations
Open access Sep 2026

Clinical characteristics of newborns with the deafness-associated GJB2 variant p.V37I in Changzhi, China

It is demonstrated that GJB2 variant p.V37I is significantly associated with neonatal hearing loss, underscoring its importance for inclusion in genetic screening programs to facilitate early intervention.

Rui Feng, E. Mangantig, Wan Shahriman Yushdie Wan Yusoff et al. · 0 citations

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