Results 161 to 170 of about 50,057 (258)

SnapShot: Nonsense-Mediated mRNA Decay

open access: yesCell, 2011
Durand, Sébastien, Lykke-Andersen, Jens
openaire   +2 more sources

De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

open access: yes, 2019
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder.
Au, C.   +37 more
core   +1 more source

p38 MAPK inhibits nonsense-mediated RNA decay in response to persistent DNA damage in noncycling cells [PDF]

open access: yes, 2017
Cheruiyot, Abigael   +5 more
core   +2 more sources

The interplay between mRNA translation and nonsense-mediated decay in AUG-proximal nonsense-mutated transcripts [PDF]

open access: yes, 2014
Nonsense-mediated mRNA decay (NMD) is a surveillance pathway that recognizes and rapidly degrades mRNAs containing premature termination codons (PTC).
Romão, Luísa
core  

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [PDF]

open access: yes, 2016
PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan.
Akram, Javed   +11 more
core   +1 more source

Nonsense-mediated mRNA decay in health and disease.

open access: yesHuman Molecular Genetics, 1999
P. Frischmeyer, H. Dietz
semanticscholar   +1 more source

Nonsense-mediated mRNA decay in collagen X

open access: yes, 2010
Genetic disorders are a major cause of human disability and disease. It has been estimated that 5-10% of the population is affected by an inherited disorder during their lifetime, and a startling 70% of pediatric admissions involve a genetic component.
openaire   +1 more source

Nonsense-mediated mRNA decay in humans at a glance

open access: yesJournal of Cell Science, 2016
Tatsuaki Kurosaki, L. Maquat
semanticscholar   +1 more source

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