Associated Papers
Intrinsic cardiomyopathy in pediatric Marfan syndrome: predictive factors and risk assessments.
Kneußel J et al.
Pediatric Research, 2025
Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria.
Shin JH et al.
European Journal of Human Genetics : Ejhg, 2025
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
Computational analysis of prodomain cysteines in human TGF-β proteins reveals frequent loss of disulfide-dependent regulation in tumors.
Daly SM et al.
G3 (bethesda, Md.), 2022
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.
Fernández-Álvarez P et al.
Journal of Medical Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.
Zhou Y et al.
Molecular Medicine Reports, 2021
Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.
Stark VC et al.
Genes, 2020
Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.
Baudhuin LM et al.
European Journal of Human Genetics : Ejhg, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang H et al.
Scientific Reports, 2016
New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies.
Jensen SA et al.
The Biochemical Journal, 2016
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
Baudhuin LM et al.
Journal of Human Genetics, 2015
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
Baudhuin LM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly.
Yadin DA et al.
Structure (london, England : 1993), 2013
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Marfan syndrome and its disorder in periodontal tissues.
Suda N et al.
Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution, 2009
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
Chung BH et al.
American Journal of Medical Genetics. Part A, 2009
Characteristic phenotype of immortalized periodontal cells isolated from a Marfan syndrome type I patient.
Shiga M et al.
Cell and Tissue Research, 2008
The molecular genetics of Marfan syndrome and related disorders.
Robinson PN et al.
Journal of Medical Genetics, 2006
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
Rommel K et al.
Human Mutation, 2005
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
Vollbrandt T et al.
The Journal of Biological Chemistry, 2004
Effects of the N2144S mutation on backbone dynamics of a TB-cbEGF domain pair from human fibrillin-1.
Yuan X et al.
Journal of Molecular Biology, 2002
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
Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context.
McGettrick AJ et al.
Human Molecular Genetics, 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
The molecular genetics of Marfan syndrome and related microfibrillopathies.
Robinson PN et al.
Journal of Medical Genetics, 2000
Molecular analysis of eight mutations in FBN1.
Halliday D et al.
Human Genetics, 1999
Defective calcium binding to fibrillin-1: consequence of an N2144S change for fibrillin-1 structure and function.
Kettle S et al.
Journal of Molecular Biology, 1999
Calcium stabilizes fibrillin-1 against proteolytic degradation.
Reinhardt DP et al.
The Journal of Biological Chemistry, 1997
Software and database for the analysis of mutations in the human FBN1 gene.
Collod G et al.
Nucleic Acids Research, 1996
The calcium binding properties and molecular organization of epidermal growth factor-like domains in human fibrillin-1.
Handford P et al.
The Journal of Biological Chemistry, 1995
[AFBN1 gene in patients with Marfan syndrome].
Valiev RR et al.
Molekuliarnaia Biologiia, 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