Cargando…
Translational plasticity facilitates the accumulation of nonsense genetic variants in the human population
Genetic variants that disrupt protein-coding DNA are ubiquitous in the human population, with about 100 such loss-of-function variants per individual. While most loss-of-function variants are rare, a subset have risen to high frequency and occur in a homozygous state in healthy individuals. It is un...
Autores principales: | Jagannathan, Sujatha, Bradley, Robert K. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131816/ https://www.ncbi.nlm.nih.gov/pubmed/27646533 http://dx.doi.org/10.1101/gr.205070.116 |
Ejemplares similares
-
A feedback loop between nonsense-mediated decay and the retrogene
DUX4 in facioscapulohumeral muscular dystrophy
por: Feng, Qing, et al.
Publicado: (2015) -
LAMA2 Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy
por: Christen, Matthias, et al.
Publicado: (2021) -
Nonsense-mediated mRNA decay uses complementary mechanisms to suppress mRNA and protein accumulation
por: Udy, Dylan B, et al.
Publicado: (2021) -
A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations
por: Hug, Petra, et al.
Publicado: (2019) -
PKD1 Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease
por: Drögemüller, Michaela, et al.
Publicado: (2023)