Article
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
American journal of human genetics - 7 Apr 2016
Shaheen Ranad, Anazi Shams, Ben-Omran Tawfeg, Seidahmed Mohammed Zain, Caddle L Brianna, Palmer Kristina, Ali Rehab, Alshidi Tarfa, Hagos Samya, Goodwin Leslie, Hashem Mais, Wakil Salma M, Abouelhoda Mohamed, Colak Dilek, Murray Stephen A, Alkuraya Fowzan S
Abstract excerpt
Nonsense-mediated decay (NMD) is an important process that is best known for degrading transcripts that contain premature stop codons (PTCs) to mitigate their potentially harmful consequences, although its regulatory role encompasses other classes of transcripts as well. Despite the critical role of NMD at the cellular level, our knowledge about the consequences of deficiency of its components at the organismal...
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