ReviewJournal of medical genetics2006
The molecular genetics of Marfan syndrome and related disorders.
Review in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 177 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
177 citing papers in PubMed, 429 citations in OpenAlex.
- Increased Disarray of Extracellular Matrix Collagen-I Fiber Network and Compromised Biomechanics in Aortae From Marfan-Syndrome Mice Assessed Through Combined Opto-Biomechatronics.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- The aorta in Marfan syndrome: from molecular mechanisms to mechanobiological dysfunction.Cardiovascular research · 2026Review
- Article
- The Regnase pathway: a core axis in immune regulation and inflammatory disease.Frontiers in immunology · 2026Review
- Osteoporosis in Patients With Marfan Syndrome: A Narrative Review of Bone Health and Management.Cureus · 2025Review
- A cadherin-integrin-ECM code for presomitic mesoderm fluidity.Development (Cambridge, England) · 2025Article
- Article
- Beyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies.Journal of family medicine and primary care · 2025Article
- Addressing Stunting in Children Under Five: Insights and Opportunities from Nepal, Bangladesh, and Vietnam-A Review of Literature.Children (Basel, Switzerland) · 2025Review
- Review
- Article
- Unraveling the Role of the Tumor Extracellular Matrix to Inform Nanoparticle Design for Nanomedicine.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Review
- Autonomic and baroreflex regulations in syndromic and non-syndromic aortopathies: a case-control study.Frontiers in physiology · 2025Article
- Functional analysis of a novelFrontiers in genetics · 2025Article
- A novel missense variant ofFrontiers in pediatrics · 2025Article
- Characterization of LTBP2 mutation causing mitral valve prolapse.European heart journal open · 2025Article
- Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.Genome medicine · 2024Article
- Missense variants ofMolecular genetics and metabolism reports · 2024Article
- Mechanisms of assembly and remodelling of the extracellular matrix.Nature reviews. Molecular cell biology · 2024Review
- Precision epigenetic editing: Technological advances, enduring challenges, and therapeutic applications.Cell chemical biology · 2024Review
117 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 14 institutions in 6 countries.
Funding
Abstract
Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene for fibrillin-1 (FBN1). The leading cause of premature death in untreated individuals with MFS is acute aortic dissection, which often follows a period of progressive dilatation of the ascending aorta. Recent research on the molecular physiology of fibrillin and the pathophysiology of MFS and related disorders has changed our understanding of this disorder by demonstrating changes in growth factor signalling and in matrix-cell interactions. The purpose of this review is to provide a comprehensive overview of recent advances in the molecular biology of fibrillin and fibrillin-rich microfibrils. Mutations in FBN1 and other genes found in MFS and related disorders will be discussed, and novel concepts concerning the complex and multiple mechanisms of the pathogenesis of MFS will be explained.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.