FIGURE

Fig. 4

ID

ZDB-FIG-260709-54

Publication

Valtorta et al., 2026 - Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

Other Figures

All Figure Page

Back to All Figure Page

Fig. 4

Impaired 3′-end processing of U1 snRNAs in INTS11-mutated patient-derived cells. A Schematic representation of the RT-qPCR approach used to detect unprocessed U1 snRNAs transcribed from the RNU1-1 gene. The diagram indicates the positions of RT-qPCR primers (arrows), the canonical Integrator-mediated cleavage site (scissors), and the downstream 3′ box. B RT-qPCR analysis of unprocessed RNU1-1 transcripts in control, parent and INTS11-mutated patient-derived fibroblasts (left) and LCLs (right). Data are presented as mean ± SEM from three independent experiments (N = 3). Statistical significance was determined using a two-tailed Student’s t-test (ns – not significant, *p < 0.05, **p < 0.01, ***p < 0.001, ****p < 0.0001)

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Genome Med.