Results 111 to 120 of about 2,316,916 (188)
Animal Genetics, Volume 57, Issue 5, October 2026.ABSTRACT A previous genome‐wide association study identified regions on canine chromosome (cfa) 13 and 14 associated with early onset myxomatous mitral valve disease (MMVD) in Cavalier King Charles Spaniels (CKCS). In the present study, whole genome sequencing (WGS) of 9 CKCS cases (mitral regurgitation (MR) before 4.5 years or congestive heart failure
Lisbeth Høier Olsen +12 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT A 7.6‐year‐old boy with hTTP had fever‐induced hemorrhagic rash, MAHA, cerebral infarction, and renal impairment. After plasma therapy, symptoms were partially relieved; 9‐year follow‐up showed regular plasma transfusion was needed, with CKD Stage 3.
Dai Xiaomei +5 more
wiley +1 more source
UPF1 regulates mRNA stability by sensing poorly translated coding sequences
Cell ReportsSummary: Post-transcriptional mRNA regulation shapes gene expression, yet how cis-elements and mRNA translation interface to regulate mRNA stability is poorly understood.
Damir Musaev +7 more
doaj +1 more source
Impaired Motor Function in a Zebrafish Stathmin‐2 Knockout Model
Developmental Neurobiology, Volume 86, Issue 4, October 2026.ABSTRACT Stathmin‐2 (STMN2) is a microtubule‐associated protein that plays a role in the stability of microtubules in axons of the nervous system of animals. In this study, we generated a novel zebrafish STMN2 knockout (KO) model. STMN2 is represented by two genes in the zebrafish genome: stmn2a and stmn2b.
Tyler J. N. Gurberg +6 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.A 24‐year‐old heterozygous woman presented with lifelong hypotonia and slowly progressive, asymmetric axial and limb‐girdle weakness with facial/ocular involvement and restrictive ventilatory impairment (FVC 53.12% predicted). Multimodal evaluation (EMG, muscle MRI, and whole‐exome sequencing [WES]) identified a de novo MTM1 frameshift variant ...
Lijun Chen, Yingxiao Bao, Gonglu Liu
wiley +1 more source
Cancer Science, Volume 117, Issue 10, Page 2852-2862, October 2026.This study aimed to determine whether personalized selection of effective drugs for SMARCB1/INI1‐deficient tumors is feasible using in vitro drug sensitivity profiling. Drug sensitivity was assessed using a short‐term collagen gel–embedded three‐dimensional drug sensitivity test (3D‐DST) in tumors derived from SMARCB1/INI1‐deficient tumor cell line ...
Hiroaki Goto +12 more
wiley +1 more source
Widespread predicted nonsense-mediated mRNA decay of . . .
, 2003 We have recently shown that a third of reliably-inferred alternative mRNA isoforms are candidates for nonsense-mediated mRNA decay (NMD), an mRNA surveillance system (Lewis et al., 2003, Proc. Natl Acad. Sci. USA, 100, 189--192).
Richard E. Green +7 more
core
Splicing Factor Mutations in Clonal Hematopoiesis and Progression to Myeloid Neoplasms
Cancer Science, Volume 117, Issue 10, Page 2609-2618, October 2026.Splicing factor (SF)‐mutant CH is characterized by relatively late emergence and accelerated clonal expansion in older individuals. This review summarizes its clonal dynamics, disease‐associated consequences of SF mutations in myeloid neoplasms, and candidate mechanisms that may contribute to age‐dependent selection.
Yang Lyu, Yutong Zhang, Ayana Kon
wiley +1 more source
About one third of all genetic diseases and many forms of cancer are caused by nonsense or frameshift mutations that introduce premature translation-termination codons (PTCs) (1,2). Indeed, PTCs contribute significantly to the spectrum of inherited human
Romão, Luísa
core
Determining if an mRNA is a Substrate of Nonsense-Mediated mRNA Decay in Saccharomyces cerevisiae
, 2016 Nonsense-mediated mRNA decay (NMD) is a conserved eukaryotic quality control mechanism which triggers decay of mRNAs harboring premature translation termination codons.
Johansson, Marcus J O, +1 more
core +1 more source