Results 151 to 160 of about 59,267 (253)

Resistance to ATR Inhibitors Is Mediated by Loss of the Nonsense-Mediated Decay Factor UPF2. [PDF]

Cancer Res, 2022
O'Leary PC, Chen H, Doruk YU, Williamson T, Polacco B, McNeal AS, Shenoy T, Kale N, Carnevale J, Stevenson E, Quigley DA, Chou J, Feng FY, Swaney DL, Krogan NJ, Kim M, Diolaiti ME, Ashworth A.   +17 more
europepmc   +1 more source

Nonsense-Mediated Decay [PDF]

, 2020
openaire   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of WDR45 gene underlies β-propeller protein-associated neurodegeneration (BPAN)

Heliyon
Neurodegeneration with brain iron accumulation (NBIA) is a clinically and genetically heterogeneous disease characterized by increased iron deposition in the basal ganglia and progressive degeneration of the nervous system in adulthood. However, in early
Qiongling Peng, Ying Cui, Jin Wu, Lianying Wu, Jiajia Liu, Yangyun Han, Guanting Lu   +6 more
doaj   +1 more source

Downregulated RBM5 Enhances CARM1 Expression and Activates the PRKACA/GSK3β Signaling Pathway through Alternative Splicing-Coupled Nonsense-Mediated Decay. [PDF]

Cancers (Basel), 2023
Zhang Y, Li F, Han Z, Teng Z, Jin C, Yuan H, Zhang S, Sun K, Wang Y.   +8 more
europepmc   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. [PDF]

Clin Genet, 2023
Mo A, Paz-Ebstein E, Yanovsky-Dagan S, Lai A, Mor-Shaked H, Gilboa T, Yang E, Shao DD, Walsh CA, Harel T.   +9 more
europepmc   +1 more source

Transcriptome assemblies for two drug‐type cannabis chemotypes by long‐read RNA sequencing

The Plant Genome, Volume 19, Issue 2, June 2026.
Abstract Cannabis sativa has undergone over 10,000 years of domestication, resulting in extensive genetic and phenotypic diversity among cultivated chemotypes. Increased medical and recreational use of specialized metabolites accumulating in cannabis glandular trichomes—primarily the cannabinoids ∆9‐tetrahydrocannabinol (THC) and cannabidiol (CBD)—has ...
Oliver Berkowitz, Ricarda Jost, Sophia Ng, Antony Bacic, James Whelan, Mathew G. Lewsey   +5 more
wiley   +1 more source

Translation reinitiation after uORFs does not fully protect mRNAs from nonsense-mediated decay. [PDF]

RNA, 2023
Russell PJ, Slivka JA, Boyle EP, Burghes AHM, Kearse MG.   +4 more
europepmc   +1 more source

CYLD Cutaneous Syndrome: Report of a New Splicing Pathogenic Variant and Additional Evidence Supporting the Absence of Genotype–Phenotype Correlation

International Journal of Dermatology, EarlyView.
Agathe Hercent, Adrien Borgel, Jerôme Lamoril, Florent Grange, Frédérique Carré‐Pigeon, Caroline Kannengiesser, Dimitri Tchernitchko   +6 more
wiley   +1 more source