It is demonstrated that rs75017182‐ C promotes alternative splicing in the minigene plasmid model, and that the level of splicing may be affected by additional variants in linkage disequilibrium with rs75017182.
Next‐generation sequencing of de novo AML patients identified a common germline splicing polymorphism as a novel mechanism contributing to SH2B3 functional impairment in AML and highlight the potential relevance of non‐coding variants in leukemia pathogenesis, with possible implications for risk stratification and futu...
M. Stefanucci, L. Leuzzi, Linda Montavoci et al.· Hematological Oncology· 0 citations
It is shown that splice-switching ASOs can elicit target exon skipping and up-regulate endogenous protein levels, and it is shown that TSC1 uORFs act additively to reduce protein translation.
Eloise S. Beer Wells, L. De Conti, Hyung Chul Kim et al.· Genome Medicine· 0 citations
The frequency and distribution of common, clinically relevant, and rare DPYD variants in a Russian cohort of patients receiving fluoropyrimidine-containing chemotherapy and the observed allele frequencies with European and East Asian reference populations are compared.
D. Fedorinov, V. Lyadov, M. Lyadova et al.· Genes· 0 citations
A 50-year-old male with colorectal cancer who received adjuvant XELOX and developed life-threatening grade 3-4 toxicities is described, and a c.2766+3A>T variant leads to a non-functional DPD enzyme and is a likely cause of severe fluoropyrimidine-related toxicity.
S. Salvador-Martín, I. Taladriz-Sender, Paula Zapata-Cobo et al.· British Journal of Clinical...· 0 citations
The first deep intronic EIF2AK3 variant causing Wolcott-Rallison syndrome is reported, highlighting the need to consider systematic intronic analysis in unresolved cases.
Alaa Al Assi, G. Bonfield, J. Russ-Silsby et al.· Diabetic Medicine· 0 citations
This case highlights the importance of integrating clinical, biochemical, genetic, and computational data for the interpretation of noncanonical intronic variants, expanding the mutational spectrum described for PHEX in X-linked hypophosphatemic rickets.
Carlos F. Panqueba Arias, Ingry K. Rojas Rodriguez, Rossi I. Quero et al.· Cureus· 0 citations
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