Results 161 to 170 of about 2,306,587 (203)

Global Changes in Unproductive Splicing and NMD Efficiency in Tumors. [PDF]

Acta Naturae
Zavileyskiy LG, Mironov AA, Pervouchine DD.   +2 more
europepmc   +1 more source

eIF5A and polyamines restrict mRNA levels in response to ribosome stalls. [PDF]

Proc Natl Acad Sci U S A
Wohlenberg CM, Monem PC, Barbosa N, Frydman J, Arribere JA.   +4 more
europepmc   +1 more source

A novel truncating FBN1 variant in a family with Marfan syndrome. [PDF]

Hum Genome Var
Ito Y, Suzumura H, Tanaka Y, Imataka G, Hayashi S, Kawarai Y, Susaka H, Muramatsu M, Yuasa H, Soeda W, Ito S, Kogai T, Yamada T, Naruse K.   +13 more
europepmc   +1 more source

Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disorders. [PDF]

Hum Genomics
Pande SA, Chan Joiner H, Szafranski P, Gambin T, Wright M, Wang Q, Walters M, Friedman JM, Saunders J, Avdimiretz N, Boerkoel CF, Cortes-Santiago N, Deutsch G, Stankiewicz P.   +13 more
europepmc   +1 more source

Intron retention in health and amyotrophic lateral sclerosis. [PDF]

Brain
Wang CY, Taylor S, Pandya VA, Clarke BE, Pal K, Shelkovnikova TA, Wang Y, Luisier R, Patani R.   +8 more
europepmc   +1 more source

The role of RNA modifications in cancer translational control. [PDF]

RNA Biol
Joy M, Cleynen A, Shirokikh NE.
europepmc   +1 more source

Whole-exome sequencing reveals a novel frameshift and a recurrent nonsense SPG11 variant causing rare familial amyotrophic lateral sclerosis type 5 in two consanguineous Pakistani families. [PDF]

Mol Biol Rep
Ahmad R, Naeem M, Houlden H.
europepmc   +1 more source

Quantitative prediction of nonsense-mediated mRNA decay across human genes by genomic language model and large-scale mutational scanning

Veiner M, Toledano I, Palou-Márquez G, Lehner B, Supek F.   +4 more
europepmc   +1 more source

Beyond quality control: The role of nonsense-mediated mRNA decay (NMD) in regulating gene expression [PDF]

Seminars in Cell and Developmental Biology, 2018
Nonsense-mediated mRNA decay (NMD) has traditionally been described as a quality control system that rids cells of aberrant mRNAs with crippled protein coding potential. However, transcriptome-wide profiling of NMD deficient cells identified a plethora of seemingly intact mRNAs coding for functional proteins as NMD targets.
Sofia Nasif, Oliver Mühlemann, Lara Contu   +2 more
exaly   +7 more sources