Kanazawa Medical University Hospital

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G ( p.Asp1758Gly ), in CHARGE Syndrome

ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence...

Aberrant SOX9 expression mediated by protumour macrophages predicts poorer clinical outcomes in hepatoblastoma

Tumour-associated macrophages (TAMs) are known to promote tumour progression in many kinds of malignant tumour, including hepatoblastoma (HB). Based on previous studies, we suggested that TAM-mediated sex-determining region Y-box 9 (SOX9) signal might enhance HB progression. The...