Fibrillin-1 mgΔlpn Marfan syndrome mutation associates with preserved proteostasis and bypass of a protein disulfide isomerase-dependent quality checkpoint

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys et al. · The American Journal of Human Genetics · 2007 · 593 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +11

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome

Daniel P. Judge, Nancy Jensen Biery, Douglas R. Keene et al. · Journal of Clinical Investigation · 2004 · 394 citations

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome

Daniel P. Judge, Nancy Jensen Biery, Douglas R. Keene et al. · Journal of Clinical Investigation · 2004 · 367 citations · Full text

Life on the edge: a link between gene expression levels and aggregation rates of human proteins

Gian Gaetano Tartaglia, Sebastian Pechmann, Christopher M. Dobson et al. · Trends in Biochemical Sciences · 2007 · 295 citations

Protein Expression, Medicine, Genetics +13

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

Dianna M. Milewicz, Reed E. Pyeritz, E. Stanley Crawford et al. · Journal of Clinical Investigation · 1992 · 269 citations · Full text

Family Members, Genetics, Pathology +16