The Genetic Landscape of Hereditary Spastic Paraplegia in Greece
Clinical Genetics, Volume 109, Issue 5, Page 837-846, May 2026.We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis +19 more
wiley +1 more source
Nonsense-Mediated Decay Targeted RNA (ntRNA): Proposal of a ntRNA-miRNA-lncRNA Triple Regulatory Network Usable as Biomarker of Prognostic Risk in Patients with Kidney Cancer. [PDF]
Genes (Basel), 2022 Zhou Z, Hu F, Huang D, Chi Q, Tang NLS.
europepmc +1 more source
Clinical Genetics, Volume 109, Issue 5, Page 972-977, May 2026.RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson +11 more
wiley +1 more source
Nonsense-mediated decay controls the reactivation of the oncogenic herpesviruses EBV and KSHV. [PDF]
PLoS Biol, 2021 van Gent M, Reich A, Velu SE, Gack MU.
europepmc +1 more source
Know Your Lanes: Unpacking Theoretical Plurality Across Studies of Professions
Journal of Management Studies, Volume 63, Issue 3, Page 1604-1636, May 2026.Abstract Professions continue to be central to understanding organizing in the 21st century. The literature on professions is segmented into theoretical conversations that offer different conceptualizations of professions and theoretical concerns. Through an analysis of the literature, we unpack four lanes – teleological, institutional, ecological, and
Ruthanne Huising, Pauli Pakarinen
wiley +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
Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation. [PDF]
Int J Mol Sci, 2022 Vallverdú-Prats M +2 more
europepmc +1 more source
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development. [PDF]
Eur J Hum Genet, 2022 Rahikkala E +19 more
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Nonsense-mediated decay controls a negative feedback loop in innate immune sensing. [PDF]
Proc Natl Acad Sci U S ABoudreault S +6 more
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The hidden regulators: Non‐coding RNAs in KMT2A‐rearranged acute lymphoblastic leukemia
International Journal of Cancer, Volume 158, Issue 8, Page 2003-2012, 15 April 2026.Abstract Acute lymphoblastic leukemia (ALL) driven by KMT2A rearrangements (KMT2A‐r) is an aggressive hematologic malignancy with poor prognosis and a high incidence in infants. While KMT2A fusion proteins drive leukemogenesis through transcriptional dysregulation, recent discoveries have highlighted the pivotal role of non‐coding RNAs (ncRNAs) in ...
Maria Augusta Poersch +5 more
wiley +1 more source