reference number 54767414mmy2042  (Janssen)

Journal: Kidney International Reports

Article Title: Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants

doi: 10.1016/j.ekir.2025.103754

Figure Lengend Snippet: CUBN variants detected in this study along the cubilin protein. Novel variants are shown in black, and the reported variants are shown in blue. #Number of families detected. We detected 40 types of CUBN variants, 30 of which were novel. Eleven variants were detected in multiple families, and p.Cys1764Tyr and p.Ser1936Asn were detected in the largest number of 13 families.

Article Snippet: The CUBN cDNA reference number is NM_001081.4 (NCBI for Biotechnology Information ID).

Techniques:

Journal: Kidney International Reports

Article Title: Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants

doi: 10.1016/j.ekir.2025.103754

Figure Lengend Snippet: Schematic of CUBN transcript variants. (a) Schematic representation of the known full-length CUBN transcript. A stop codon was present in the terminal exon (exon 67). (b) Schematic representation of the alternative CUBN transcript variants. Alternative splicing generates the cryptic exon in intron 28 as a new terminal exon harboring a stop codon, leading to changes in the 3′-coding and 3′ UTR sequences. This splicing variant may encode a cubilin isoform with a truncated C-terminus.

Article Snippet: The CUBN cDNA reference number is NM_001081.4 (NCBI for Biotechnology Information ID).

Techniques: Alternative Splicing, Variant Assay