Long-Term Efficacy of Systemic Multiexon Skipping Targeting Dystrophin Exons 45–55 With a Cocktail of Vivo-Morpholinos in Mdx52 Mice [PDF]
, 2015 Yusuke Echigoya +9 more
openalex +1 more source
A novel JK‐null allele due to splicing variant
Transfusion, EarlyView.
Christophe Tournamille +7 more
wiley +1 more source
Molecular Ecology, Volume 35, Issue 9, May 2026.ABSTRACT Insect societies show a reproductive division of labor between egg‐laying queens and workers that fulfil all non‐reproductive tasks. Polygyny, the coexistence of several queens in a colony, has evolved multiple times in social insects. Although queens in polygynous colonies are often assumed to have similar reproductive outputs, they may ...
Maximilian F. Bolder +3 more
wiley +1 more source
Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping [PDF]
, 2012 Aurélie Goyenvalle +6 more
openalex +1 more source
GmSNAP14: a key contributor to soybean cyst nematode resistance in soybean
New Phytologist, Volume 250, Issue 4, Page 2477-2494, May 2026.Summary Soybean (Glycine max) plants counteract soybean cyst nematode (SCN, Heterodera glycines Ichinohe) infection through an impairment of soluble N‐ethylmaleimide‐sensitive factor (NSF) attachment protein (α‐SNAP) – NSF interactions and vesicular trafficking leading to cellular toxicity in response to nematode feeding.
Vinavi A. Gamage +9 more
wiley +1 more source
P2.11-01 A Phase II Study of Tepotinib in Advanced Solid Cancers with MET exon 14 Skipping Mutation or Amplification; Results of Non-small Cell Lung Cancer [PDF]
, 2023 Yaewon Yang +16 more
openalex +1 more source
Haplotype‐Based Analysis of OCA2 Variants in Oculocutaneous Albinism
Pigment Cell &Melanoma Research, Volume 39, Issue 3, May 2026.This study defines multi‐allele haplotypes, comprised of rare disease variants combined with common eQTL, sQTL and GWAS variants, for oculocutaneous albinism type 2 (OCA2). These haplotypes have implications for variant pathogenicity assessments and phenotypic variability.
Meredith F. Gillis +14 more
wiley +1 more source
First-line immunotherapy for lung cancer with MET exon 14 skipping and the relevance of TP53 mutations [PDF]
Miriam Blasi +21 more
openalex +1 more source
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
FEBS Open Bio, Volume 16, Issue 4, Page 803-813, April 2026.Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Genetic Diagnosis and Discovery Enabled by Large Language Models
Advanced Science, Volume 13, Issue 22, 17 April 2026.We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu +25 more
wiley +1 more source