Lamin A Truncation in Hutchinson-Gilford Progeria

By Annachiara De Sandre-Giovannoli, R. Bernard, P. Cau, C. Navarro, J. Amiel, I. Boccaccio, S. Lyonnet, C. Stewart, A. Munnich, M. le Merrer and 1 more. Science, 2003

1,436 citations recorded by the source corpus.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/2c405f203d1e47ca5889134245be0aa3fdb8fabc

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In Molecular Biology

1. Tom Misteli
2. Paola Scaffidi
3. C. López‐Otín
4. Yihai Cao
5. A. Pendás
6. H. Kimura
7. Peter R. Cook
8. M. Bianchi

Citations in the corpus

• Genomic instability in laminopathy-based premature aging (2005, background): “HGPS is most commonly caused by a de novo heterozygous mutation in lamin”
• Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome (2005, background): “dtd" [ ]> Hutchinson-Gilford progeria syndrome (HGPS) is a childhood premature aging disease caused by a spontaneous point mutation in lamin A (encoded by LMNA ), one of the major architectural elements of the mammalian cell nucleu”
• "Laminopathies": a wide spectrum of human diseases. (2007, background): “Arguably the most dramatic disease phenotype caused by mutation in LMNA is HutchinsonGilford progeria syndrome [55,56].”