ArticleJournal of medical genetics1995
Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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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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Who cites it
11 citing papers in PubMed, 38 citations in OpenAlex.
- Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1.Frontiers in genetics · 2022Article
- Multiscale Imaging Reveals the Hierarchical Organization of Fibrillin Microfibrils.Journal of molecular biology · 2018Article
- Structural and compositional diversity of fibrillin microfibrils in human tissues.The Journal of biological chemistry · 2018Article
- Vesicoureteral reflux and the extracellular matrix connection.Pediatric nephrology (Berlin, Germany) · 2017Review
- A potential role for endogenous proteins as sacrificial sunscreens and antioxidants in human tissues.Redox biology · 2015Article
- Molecular pathogenesis and management strategies of ectopia lentis.Eye (London, England) · 2014Review
- Intraocular lens subluxation in marfan syndrome.The open ophthalmology journal · 2014Article
- The molecular genetics of Marfan syndrome and related disorders.Journal of medical genetics · 2006Review
- [Ocular manifestations and surgical results in patients with Marfan syndrome].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2006Article
- The molecular genetics of Marfan syndrome and related microfibrillopathies.Journal of medical genetics · 2000Review
- Calcium determines the supramolecular organization of fibrillin-rich microfibrils.The Journal of cell biology · 1998Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have found abnormal fibrillin microfibrils isolated from tissues and cell cultures from two cousins with Marfan syndrome whose major clinical abnormality is bilateral ectopia lentis, but who also have skeletal involvement but no cardiovascular defects. Ultrastructural analysis of ciliary zonules showed the presence of abundant loose microfibril bundles which in many places appeared disorganised. Microfibrils isolated from ciliary zonules and vitreous were highly fragmented when examined by rotary shadowing electron microscopy. Investigation of microfibrils elaborated by patient dermal fibroblasts showed remarkable variations in periodicity and packing. The synthesis and secretion of fibrillin by these cells was confirmed electrophoretically with the identification of metabolically labelled immunoprecipitated fibrillin (M(r) 300,000) in medium and cell layer compartments. These data show that fibrillin expression is normal but that assembled microfibrils are manifestly abnormal both morphologically and functionally. The occurrence of microfibrils with variable periodicities and susceptibility to fragmentation suggests that structural weakness is probably the primary cause of lens dislocation in these patients.
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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.