Associated Papers
Pathogenic mechanism and therapeutic intervention of impaired N7-methylguanosine (m7G) tRNA modification.
Ma J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Metabolic rewiring during bone development underlies tRNA m7G-associated primordial dwarfism.
Li Q et al.
The Journal of Clinical Investigation, 2024
PTPN23 ubiquitination by WDR4 suppresses EGFR and c-MET degradation to define a lung cancer therapeutic target.
Singh S et al.
Cell Death & Disease, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Structural basis of regulated m7G tRNA modification by METTL1-WDR4.
Li J et al.
Nature, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
Division of labor in epitranscriptomics: What have we learnt from the structures of eukaryotic and viral multimeric RNA methyltransferases?
Graille M
Wiley Interdisciplinary Reviews. Rna, 2022
Multi-omics integration of methyltransferase-like protein family reveals clinical outcomes and functional signatures in human cancer.
Campeanu IJ et al.
Scientific Reports, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30214071 (PubMed )
Supplement: NIHMS1061370-supplement-1061370_Sup_MOESM2.xlsx › Sheet1
Speech and language delay in a patient with WDR4 mutations.
Chen X et al.
European Journal of Medical Genetics, 2018
Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.
Trimouille A et al.
Clinical Genetics, 2018
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism.
Shaheen R et al.
Genome Biology, 2015
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