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
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
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
Mannucci L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Two rare missense mutations in the fibrillin‑1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome.
Zhang M et al.
Molecular Medicine Reports, 2018
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
Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3' fibrillin-1 gene mutations with phenotype.
Gao LG et al.
Chinese Medical Journal, 2010
Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders.
Gao LG et al.
Ageing Research Reviews, 2010
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
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
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
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
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
El-Aleem AA et al.
Human Mutation, 1999
Identification of three novel mutations in the MYO7A gene
Cuevas JM et al.
Human Mutation, 1999
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