Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay
Inácio A, Silva AL, Pinto J et al: Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay. J Biol Chem 2004; 279: 32170-32180.
The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context
Silva AL, Pereira FJ, Morgado A et al: The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context. RNA 2006; 12: 2160-2170.
Nonsense mutations in the human β-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation
Romão L, Inácio A, Santos S et al: Nonsense mutations in the human β-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation. Blood 2000; 96: 2895-2901.
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma
Sanchez-Sanchez F, Ramirez-Castillejo C, Weekes DB et al: Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma. Hum Mutat 2006; 28 159-167.
The 185delAG mutation (c.68-69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon
Buisson M, Anczukow O, Zetoune AB et al: The 185delAG mutation (c.68-69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. Hum Mutat 2006; 27: 1024-1029.
Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites
Paulsen M, Lund C, Akram Z et al: Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites. Am J Hum Genet 2006; 79: 214-229.
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation
Puel A, Reichenbach J, Bustamante J et al: The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. Am J Hum Genet 2006; 78: 691-701.
Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation
Moumne L, Fellous M, Veitia RA: Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation. Hum Mol Genet 2005; 14: 3557-3564.
Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders
Chang CC, Gould SJ: Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. Am J Hum Genet 1998; 63: 1294-1306.
