Associated Papers
Endothelial Cell Senescence in Marfan Syndrome: Pathogenesis and Therapeutic Potential of TGF-β Pathway Inhibition.
Chen Y et al.
Journal of the American Heart Association, 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
Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation.
Sabahizadeh A et al.
Bmc Medical Genomics, 2025
Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.
Karaoglan M et al.
European Journal of Pediatrics, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination.
Chauhan AK et al.
Neurospine, 2020
Acute Stanford type B aortic dissection-who benefits from genetic testing?
Erhart P et al.
Journal of Thoracic Disease, 2020
Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.
Wolford BN et al.
Circulation. Genomic and Precision Medicine, 2019
Identification of a novel mutation in FBN1 in a Chinese family with inherited ectopia lentis by targeted NGS.
Cao D et al.
Gene, 2019
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
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.
Wang S et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2017
Fibrillin-1 Gene Mutations in Left Ventricular Non-compaction Cardiomyopathy.
Parent JJ et al.
Pediatric Cardiology, 2016
Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.
Ma M et al.
Molecular Medicine Reports, 2016
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
Peng Q et al.
Bmc Pediatrics, 2016
Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation.
Wang Y et al.
Forensic Science International, 2016
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
Association study of common variations of FBN1 gene and essential hypertension in Han Chinese population.
Chen J et al.
Molecular Biology Reports, 2014
Novel genetic variation in exon 28 of FBN1 gene is associated with essential hypertension.
Shen C et al.
American Journal of Hypertension, 2011
[Screening of FBN1 gene mutations in a family with Marfan syndrome].
Hao P et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2010
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
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.
Hung CC et al.
Annals of Human Genetics, 2009
Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis.
Hung CC et al.
Analytical Biochemistry, 2009
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.
Frédéric MY et al.
Human Mutation, 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
Role of fibrillin-1 genetic mutations and polymorphism in aortic dilatation in patients undergoing intracardiac repair of tetralogy of Fallot.
Chowdhury UK et al.
The Journal of Thoracic and Cardiovascular Surgery, 2008
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
Sakai H et al.
American Journal of Medical Genetics. Part A, 2006
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
Adès LC et al.
American Journal of Medical Genetics. Part A, 2006
Autosomal dominant Weill-Marchesani syndrome and glaucoma management.
Saricaoglu MS et al.
Saudi Medical Journal, 2005
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
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.
Faivre L et al.
Journal of Medical Genetics, 2003
Association of 5'-untranslated region of the Fibrillin-1 gene with Japanese scleroderma.
Kodera T et al.
Gene, 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
Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.
Comeglio P et al.
Human Mutation, 2001
Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.
Comeglio P et al.
Human Mutation, 2001
Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.
Matsukawa R et al.
Human Mutation, 2001
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
Phakdeekitcharoen B et al.
Kidney International, 2000
Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome.
Oh MR et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2000
The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome.
Ikebuchi M et al.
Human Mutation, 2000
The molecular genetics of Marfan syndrome and related microfibrillopathies.
Robinson PN et al.
Journal of Medical Genetics, 2000
Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations.
Wagner TM et al.
Human Molecular 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
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