ReviewJournal of medical genetics2000
The molecular genetics of Marfan syndrome and related microfibrillopathies.
Review in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 1 of them a synthesis that pooled it.
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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.
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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
87 citing papers in PubMed, 1 synthesis or guideline pooled it, 304 citations in OpenAlex.
- Skeletal muscle alterations in Marfan syndrome: a systematic review.Journal of muscle research and cell motility · 2025Pooled it
- Mouse Models of Aortic Pathologies: Deciphering Molecular and Cellular Mechanisms from Bench to Bedside.CJC open · 2026Review
- Single-Cell Proteomics Uncovers Cell-Specific Proteins in Vascular Health and Marfan Syndrome Disease-Brief Report.Arteriosclerosis, thrombosis, and vascular biology · 2026Article
- Clinical and molecular genetic description of a Marfan-like syndrome in a Golden Retriever puppy.Journal of veterinary internal medicine · 2026Article
- Downregulation ofMolecular therapy. Nucleic acids · 2026Article
- Morphological and functional echocardiographic findings in pediatric patients diagnosed with hypermobile Ehlers-Danlos syndrome.Frontiers in pediatrics · 2026Article
- Perioperative Care of a Pediatric Patient With Beals Syndrome.Journal of medical cases · 2025Article
- Effects of childhood and adult height on later life cardiovascular disease risk estimated through Mendelian randomization.European journal of epidemiology · 2025Article
- Missense variants ofMolecular genetics and metabolism reports · 2024Article
- Cell response to extracellular matrix viscous energy dissipation outweighs high-rigidity sensing.Science advances · 2024Article
- High-Throughput Genomics Identify NovelInternational journal of molecular sciences · 2024Article
- Genetic models of fibrillinopathies.Genetics · 2024Review
- Marfan syndrome: insights from animal models.Frontiers in genetics · 2024Review
- Ocular, cardiovascular, and genetic characteristics and their associations in children with Marfan syndrome and related fibrillinopathies.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Article
- Review
- Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.Diagnostics (Basel, Switzerland) · 2022Article
- Dissecting the Heterogeneity of Human Thoracic Aortic Aneurysms Using Single-Cell Transcriptomics.Arteriosclerosis, thrombosis, and vascular biology · 2022Review
- A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report.European heart journal. Case reports · 2022Article
- Effects of Simulated Microgravity on Wild Type and Marfan hiPSCs-Derived Embryoid Bodies.Cellular and molecular bioengineering · 2021Article
- Rare Neurovascular Diseases in Korea: Classification and Related Genetic Variants.Korean journal of radiology · 2021Review
27 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
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the gene for fibrillin-1 (FBN1) have been shown to cause Marfan syndrome, an autosomal dominant disorder of connective tissue characterised by pleiotropic manifestations involving primarily the ocular, skeletal, and cardiovascular systems. Fibrillin-1 is a major component of the 10-12 nm microfibrils, which are thought to play a role in tropoelastin deposition and elastic fibre formation in addition to possessing an anchoring function in some tissues. Fibrillin-1 mutations have also been found in patients who do not fulfil clinical criteria for the diagnosis of Marfan syndrome, but have related disorders of connective tissue, such as isolated ectopia lentis, familial aortic aneurysm, and Marfan-like skeletal abnormalities, so that Marfan syndrome may be regarded as one of a range of type 1 fibrillinopathies. There appear to be no particular hot spots since mutations are found throughout the entire fibrillin-1 gene. However, a clustering of mutations associated with the most severe form of Marfan syndrome, neonatal Marfan syndrome, has been noted in a region encompassing exons 24 to 32. The gene for fibrillin-2 (FBN2) is highly homologous to FBN1, and mutations in FBN2 have been shown to cause a phenotypically related disorder termed congenital contractural arachnodactyly. Since mutations in the fibrillin genes are likely to affect the global function of the microfibrils, the term microfibrillopathy may be the most appropriate to designate the spectrum of disease associated with dysfunction of these molecules. The understanding of the global and the molecular functions of the fibrillin containing microfibrils is still incomplete and, correspondingly, no comprehensive theory of the pathogenesis of Marfan syndrome has emerged to date. Many, but not all, fibrillin-1 gene mutations are expected to exert a dominant negative effect, whereby mutant fibrillin monomers impair the global function of the microfibrils. In this paper we review the molecular physiology and pathophysiology of Marfan syndrome and related microfibrillopathies.
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