Associated Papers
The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.
Gariballa N et al.
Journal of Biomedical Science, 2024
Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.
Jensen SA et al.
Plos One, 2021
The Molecular Genetics of Marfan Syndrome.
Du Q et al.
International Journal of Medical Sciences, 2021
Steered molecular dynamic simulations reveal Marfan syndrome mutations disrupt fibrillin-1 cbEGF domain mechanosensitive calcium binding.
Haller SJ et al.
Scientific Reports, 2020
Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.
Maeda J et al.
Heart and Vessels, 2016
Molecular pathogenesis of Marfan syndrome.
Ramachandra CJ et al.
International Journal of Cardiology, 2015
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders.
Gao LG et al.
Chinese Medical Journal, 2011
Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders.
Gao LG et al.
Ageing Research Reviews, 2010
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
Faivre L et al.
European Journal of Human Genetics : Ejhg, 2009
Marfan syndrome and sudden death within a family - aetiologic, molecular and diagnostic issues at autopsy.
Hirani R et al.
Journal of Forensic and Legal Medicine, 2008
A mutant dec-1 transgene induces dominant female sterility in Drosophila melanogaster.
Spangenberg DK et al.
Genetics, 2007
A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.
Yao Z et al.
Bmc Genomics, 2007
The molecular genetics of Marfan syndrome and related disorders.
Robinson PN et al.
Journal of Medical Genetics, 2006
Molecular pathology of Shprintzen-Goldberg syndrome.
Kosaki K et al.
American Journal of Medical Genetics. Part A, 2006
Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.
Smallridge RS et al.
The Journal of Biological Chemistry, 2003
Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.
Whiteman P et al.
Human Molecular Genetics, 2003
Marfan syndrome: orthopedic and genetic review.
Giampietro PF et al.
Current Opinion in Pediatrics, 2002
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.
Schrijver I et al.
American Journal of Human Genetics, 1999
Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.
Wang M et al.
Human Mutation, 1997
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.
Putnam EA et al.
American Journal of Medical Genetics, 1996
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.
Tynan K et al.
Human Molecular Genetics, 1993
Fibrillin-1 misfolding and disease.
Whiteman P et al.
Antioxidants & Redox Signaling, 0
Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.
Zeyer KA et al.
Mutation Research. Reviews in Mutation Research, 0