title: When the message goes awry: disease-producing mutations that influence mRNA content and performance.
abstract: Mutations that cause disease commonly occur in the coding sequence and directly influence protein structure and function. However, many diseases result from mutations that influence various aspects of mRNA metabolism, including processing, export, stability, and translational control.
authors.affiliation: Howard Hughes Medical Institute, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA.
authors.forename: J T
authors.initials: JT
authors.lastname: Mendell
authors.forename: H C
authors.initials: HC
authors.lastname: Dietz
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D020121:5' Untranslated Regions / Q000235:genetics; D000483:Alleles; D000818:Animals; D018389:Codon, Nonsense; D005786:Gene Expression Regulation / Q000235:genetics*; D019398:Genes, BRCA1; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics; D016366:Open Reading Frames / Q000235:genetics; D014176:Protein Biosynthesis / Q000235:genetics*; D012315:RNA Caps / Q000235:genetics; D012323:RNA Processing, Post-Transcriptional / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism*; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D018389:Codon, Nonsense; D012315:RNA Caps; D012333:RNA, Messenger