Associated Papers
Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.
Shen X et al.
Journal of Translational Medicine, 2025
41331757 (PubMed )
Supplement: 12967_2025_7523_MOESM1_ESM.pdf
Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.
Choi K et al.
Scientific Reports, 2025
40102521 (PubMed )
Supplement: 41598_2025_93832_MOESM1_ESM.xlsx › Assessment_of_our_criteria
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.
Kirschner R et al.
The Journal of Biological Chemistry, 2011
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
Vollbrandt T et al.
The Journal of Biological Chemistry, 2004
The molecular pathogenesis of the Marfan syndrome.
Robinson PN et al.
Cellular and Molecular Life Sciences : Cmls, 2001
Fibrillin-1, a calcium binding protein of extracellular matrix.
Handford PA
Biochimica Et Biophysica Acta, 2000
Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome.
Reinhardt DP et al.
The Journal of Biological Chemistry, 2000
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Hayward C et al.
Human Mutation, 1997
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
Nijbroek G et al.
American Journal of Human Genetics, 1995
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
Select a paper to view details