Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

P Beckers, JH Caberg, V Dideberg, T Dangouloff… - Scientific Reports, 2021 - nature.com
… DMD patients eligible for either exon-51, exon-53 or exon-45 skipping treatments account …
DMD patients are not eligible for either exon-51, exon-53, or exon-45 skipping therapies and …

Structure-based classification predicts drug response in EGFR-mutant NSCLC

JP Robichaux, X Le, RSK Vijayan, JK Hicks, S Heeke… - Nature, 2021 - nature.com
… marked improvements in clinical outcomes when treated with … exon 20 point mutations were
PACC mutations; that exon 20 … stratified by either structure–function-based groups or exon-…

Delivery of oligonucleotides: efficiency with lipid conjugation and clinical outcome

P Tran, T Weldemichael, Z Liu, H Li - Pharmaceutics, 2022 - mdpi.com
… induces hydrolyzing reaction by cleaving phosphodiester bond at either at 3′ or 5′ ends.
It … modalities to achieve maximal clinical outcome and to bypass the mentioned challenges. …

Understanding variants of unknown significance and classification of genomic alterations

DC Pavlick, GM Frampton, JR Ross - The Oncologist, 2024 - academic.oup.com
exon deletion event as either a large indel (BRCA1 c.5053_5136del), a copy number loss (…
exon 18 loss), or a small structural rearrangement (BRCA1 [exon 1-17] - BRCA1 [exon 19-22])…

Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping

TR Simmons, TA Vetter, N Huang… - … -Methods & Clinical …, 2021 - cell.com
… We designed two such U7snRNAs, targeting either the exon 2 splice acceptor (sequence
A) or splice donor (sequence C) sites, and cloned four copies (two of each sequence) into an …

Intracranial mesenchymal tumor with FET‐CREB fusion—a unifying diagnosis for the spectrum of intracranial myxoid mesenchymal tumors and angiomatoid fibrous …

EA Sloan, J Chiang, JE Villanueva‐Meyer… - Brain …, 2021 - Wiley Online Library
exons of either EWSR1 or FUS to the 3′ coding exons of … most commonly linked exons
1–8 of EWSR1 to exons 5–7 of … the clinical outcomes for these tumors, we next curated clinical

Association of clinical severity with FANCB variant type in Fanconi anemia

M Jung, R Ramanagoudr-Bhojappa… - Blood, The Journal …, 2020 - ashpublications.org
… primers (FPs) that bind to either exon 7-8 junction or exon 6-8 junction and a … on clinical
outcome, we plotted outcomes of the activity of the identified variants and the clinical outcomes in …

Acute Promyelocytic Leukemia: A Constellation of Molecular Events around a Single PML-RARA Fusion Gene

A Liquori, M Ibañez, C Sargas, MÁ Sanz, E Barragán… - Cancers, 2020 - mdpi.com
… of either the distal region of PML exon 6 (from 8 to 146 nucleotides), or the entire exon 6, as
… are associated with elevated WBC counts and poorer clinical outcomes [130], in the largest …

[HTML][HTML] Amivantamab compared with real-world therapies in patients with advanced non-small cell lung cancer harboring EGFR exon 20 insertion mutations who …

A Minchom, S Viteri, L Bazhenova, SM Gadgeel… - Lung Cancer, 2022 - Elsevier
… Reflects either re-treatment of a patient with platinum after an intervening LOT or a … , may
lead to modifications in treatment sequencing protocols and improvements in clinical outcomes. …

[HTML][HTML] Comparison of solid tissue sequencing and liquid biopsy accuracy in identification of clinically relevant gene mutations and rearrangements in lung …

LH Lin, DHR Allison, Y Feng, G Jour, K Park, F Zhou… - Modern Pathology, 2021 - Elsevier
… has significantly improved clinical outcomes in patients with … A clinically relevant mutation
was identified by either tissue-… Tissue-NGS on this case identified the EGFR exon 19 mutation …