Associated Papers
Genome-wide modulation of alternative splicing by a predicted alpha helix in U2AF2.
Xue D et al.
Nucleic Acids Research, 2025
U2AF2 Missense Variant Associated With Epilepsy and Systemic Dysmorphism: Report of Two Cases and Literature Review.
Huang S et al.
Clinical Case Reports, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Recurrent Neurodevelopmentally Associated Variants of the Pre-mRNA Splicing Factor U2AF2 Alter RNA Binding Affinities and Interactions.
Maji D et al.
Biochemistry, 2024
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D et al.
The Journal of Clinical Investigation, 2024
Characterization of the genomic alterations in poorly differentiated thyroid cancer.
Lee Y et al.
Scientific Reports, 2023
37932340 (PubMed )
Supplement: 41598_2023_46466_MOESM2_ESM.xlsx › P14
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2023
U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy.
Kittock CM et al.
American Journal of Medical Genetics. Part A, 2023
A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases.
Wang X et al.
Journal of Human Genetics, 2023
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
Hiraide T et al.
Journal of Human Genetics, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › NBL-S
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