Concepedia

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

Valérie Malan, Diana Rajan, Sophie Thomas, Adam Shaw, H. Louis Dit Picard, Valérie Layet, Marianne Till, Arie van Haeringen, Geert Mortier, Sheela Nampoothiri,

The American Journal of Human Genetics · 2010 · 174 citations · 21 references

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The spliceosome deposits multiple proteins 20–24 nucleotides upstream of mRNA exon–exon junctions

Hervé Le Hir · The EMBO Journal · 2000 · 953 citations · Full text

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The exon–exon junction complex provides a binding platform for factors involved in mRNA export and nonsense‐mediated mRNA decay

Hervé Le Hir · The EMBO Journal · 2001 · 828 citations · Full text

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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Marion Delous, Lekbir Baala, Rémi Salomon et al. · Nature Genetics · 2007 · 493 citations

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Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

Ken Inoue, Mehrdad Khajavi, Tomoko Ohyama et al. · Nature Genetics · 2004 · 421 citations

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Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

Laura E. Warner, Max J. Hilz, Stanley H. Appel et al. · Neuron · 1996 · 363 citations · Full text

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