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
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
Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene.
Motonaga T et al.
International Heart Journal, 2022
3D Printed Personalized External Aortic Root Model in Marfan Syndrome with Isolated Sinus of Valsalva Aneurysm Caused by a Novel Pathogenic FBN1 p.Gly1127Cys Variant.
Cho JS et al.
Diagnostics (basel, Switzerland), 2021
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
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
Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.
Mariscalco G et al.
Journal of the American Heart Association, 2018
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.
Regalado ES et al.
Clinical Genetics, 2016
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
Pua CJ et al.
Journal of Cardiovascular Translational Research, 2016
Molecular pathogenesis of Marfan syndrome.
Ramachandra CJ et al.
International Journal of Cardiology, 2015
Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.
Fu Q et al.
Molecular Vision, 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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
FBN1 mutations in patients with descending thoracic aortic dissections.
Brautbar A et al.
American Journal of Medical Genetics. Part A, 2010
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
Khau Van Kien P et al.
Human Mutation, 2010
The tetralogy of Fallot-associated G274D mutation impairs folding of the second epidermal growth factor repeat in Jagged-1.
Guarnaccia C et al.
The Febs Journal, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1.
Whiteman P et al.
Human Molecular Genetics, 2007
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
Mizuguchi T et al.
Journal of Human Genetics, 2007
Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms.
Pannu H et al.
Annals of the New York Academy of Sciences, 2006
The molecular genetics of Marfan syndrome and related disorders.
Robinson PN et al.
Journal of Medical Genetics, 2006
Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1.
Suk JY et al.
The Journal of Biological Chemistry, 2004
Global defects in the expression and function of the low density lipoprotein receptor (LDLR) associated with two familial hypercholesterolemia mutations resulting in misfolding of the LDLR epidermal growth factor-AB pair.
Boswell EJ et al.
The Journal of Biological Chemistry, 2004
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.
Khau Van Kien P et al.
European Journal of Human Genetics : Ejhg, 2004
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
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
Robinson PN et al.
Human Mutation, 2002
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
Katzke S et al.
Human Mutation, 2002
Familial abdominal aortic aneurysm: a systematic review of a genetic background.
van Vlijmen-van Keulen CJ et al.
European Journal of Vascular and Endovascular Surgery : the Official Journal of the European Society for Vascular Surgery, 2002
Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations.
Adès LC et al.
American Journal of Medical Genetics, 2002
A G1127S change in calcium-binding epidermal growth factor-like domain 13 of human fibrillin-1 causes short range conformational effects.
Whiteman P et al.
The Journal of Biological Chemistry, 2001
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Tiecke F et al.
European Journal of Human Genetics : Ejhg, 2001
Evidence that familial hypercholesterolemia mutations of the LDL receptor cause limited local misfolding in an LDL-A module pair.
North CL et al.
Biochemistry, 2000
[Indirect genotype analysis as a diagnostic procedure in Marfan syndrome].
Laudahn BM et al.
Zeitschrift Fur Kardiologie, 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
NMR analysis of cbEGF domains gives new insights into the structural consequences of a P1148A substitution in fibrillin-1.
Whiteman P et al.
Protein Engineering, 1998
A Gly --> Ser change causes defective folding in vitro of calcium-binding epidermal growth factor-like domains from factor IX and fibrillin-1.
Whiteman P et al.
The Journal of Biological Chemistry, 1998
The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
Schrijver I et al.
Human Genetics, 1997
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Hayward C et al.
Human Mutation, 1997
Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders.
Downing AK et al.
Cell, 1996
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.
Aoyama T et al.
American Journal of Medical Genetics, 1995
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
Francke U et al.
American Journal of Human Genetics, 1995