Results 151 to 160 of about 2,306,587 (203)

Broadening the inherited <i>ASXL3</i> spectrum and unveiling molecular mechanisms through detailed genotypic-phenotypic analyses. [PDF]

Genet Med Open
Woods E, Holmes N, Gooch C, Denommé-Pichon AS, Vitobello A, Vincent M, Pavlidou E, Ververi A, Verhoeven VJM, van Slegtenhorst MA, Dixit A, Sarkar A, Balasubramanian M.   +12 more
europepmc   +1 more source

Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis. [PDF]

BMC Med Genomics
Zhong R, Zheng L, Yan Q, Gao Z, Zhong C, Zhang X, Zheng B, Zhang L, Zhou W, Wang G.   +9 more
europepmc   +1 more source

The nonsense-mediated mRNA decay factor Upf3 negatively regulates bulk autophagy progression in <i>Saccharomyces cerevisiae</i>. [PDF]

Autophagy Rep
Tasmi TA, Solomon E, Avogo EW, Badenahalli Narasimhaiah S, Delorme-Axford E.   +4 more
europepmc   +1 more source

Mind the gap between RNA and protein levels: A general phenomenon with implications for virology. [PDF]

PLoS Pathog
Bertzbach LD, Kapischke T, Kaderali L, Pfaender S, Ip WH.   +4 more
europepmc   +1 more source

Exonisation of an Alu element in the 3'-UTR contributes to SRD5A2 deficiency. [PDF]

Sci Rep
Werner R, Basina A, Künstner A, Prakash SAC, Kösem K, Kulle A, Hornig NC, Wudy SA, Hartmann MF, Holterhus PM, Busch H, Hiort O.   +11 more
europepmc   +1 more source

Abstract 2242 NONSENSE-MEDIATED mRNA DECAY (NMD) AND ITS NOVEL ROLE IN TELOMERE PROTECTION OF PLURIPOTENT STEM CELLS

Journal of Biological Chemistry
Marta Markiewicz-Potoczny, Si Young Lee, Soniya Chatterjee, Ranjodh Singh, Gianna Tricola, Justin Mabin, Robert Hogg, Eros Lazzerini Denchi   +7 more
openaire   +1 more source

Nonsense-mediated mRNA decay factors target short poly(A)-tailed mRNAs lacking a premature termination codon. [PDF]

Nat Commun
Gouhier T, Saveanu C, Badis G.
europepmc   +1 more source

Pathophysiological and translational implications of the dysregulation of molecular machineries controlling RNA metabolism in thyrotropinomas. [PDF]

iScience
G-García ME, Flores-Martínez Á, Arroyo-Millán L, Venegas E, Diaz-Perdigones CM, Maraver S, Cano D, Arráez C, Arráez MA, Japón MA, Martínez-Fuentes AJ, Soto-Moreno A, Fuentes-Fayos AC, Herrera-Martínez AD, Luque RM.   +14 more
europepmc   +1 more source

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis. [PDF]

Mol Genet Genomic Med
Liu Q, Cheng X, Zheng B, Wang C, Zhou W, Zhang A.   +5 more
europepmc   +1 more source

Novel examples of NMD escape through alternative intronic polyadenylation. [PDF]

NAR Genom Bioinform
Vlasenok M, Kuznetsova A, Skvortsov DA, Dontsova OA, Pervouchine DD.   +4 more
europepmc   +1 more source