ArticleThe Journal of clinical investigation1995
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
Article in The Journal of clinical investigation, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed, 189 citations in OpenAlex.
- Modeling doxorubicin-induced-cardiotoxicity through breast cancer patient specific iPSC-derived heart organoid.Heliyon · 2024Article
- Asprosin: its function as a novel endocrine factor in metabolic-related diseases.Journal of endocrinological investigation · 2024Review
- A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 ofAdvanced biomedical research · 2023Article
- The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.Human mutation · 2022Review
- Marfan syndrome.Nature reviews. Disease primers · 2021Review
- An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.Journal of human genetics · 2021Article
- Basic Components of Connective Tissues and Extracellular Matrix: Fibronectin, Fibrinogen, Laminin, Elastin, Fibrillins, Fibulins, Matrilins, Tenascins and Thrombospondins.Advances in experimental medicine and biology · 2021Article
- Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.PloS one · 2021Article
- Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders.Journal of cell communication and signaling · 2020Review
- Asprosin: A Novel Player in Metabolic Diseases.Frontiers in endocrinology · 2020Review
- Oral manifestations of a rare variant of Marfan syndrome.Clinical case reports · 2017Article
- Fell-Muir Lecture: Fibrillin microfibrils: structural tensometers of elastic tissues?International journal of experimental pathology · 2017Review
- Vesicoureteral reflux and the extracellular matrix connection.Pediatric nephrology (Berlin, Germany) · 2017Review
- Inactivation of bone morphogenetic protein 1 (Bmp1) and tolloid-like 1 (Tll1) in cells expressing type I collagen leads to dental and periodontal defects in mice.Journal of molecular histology · 2017Article
- Molecular pathogenesis of genetic and sporadic aortic aneurysms and dissections.Current problems in surgery · 2017Review
- The effect of losartan therapy on ventricular function in Marfan patients with haploinsufficient or dominant negative FBN1 mutations.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2016Article
- Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome.Molecular biology reports · 2016Article
- Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions.Molecular genetics and metabolism · 2016Article
- Article
- Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.BMC musculoskeletal disorders · 2016Review
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dermal fibroblasts from a 13-yr-old boy with isolated skeletal features of the Marfan syndrome were used to study fibrillin synthesis and processing. Only one half of the secreted profibrillin was proteolytically processed to fibrillin outside the cell and deposited into the extracellular matrix. Electron microscopic examination of rotary shadowed microfibrils made by the proband's fibroblasts were indistinguishable from control cells. Sequencing of the FBN1 gene revealed a heterozygous C to T transition at nucleotide 8176 resulting in the substitution of a tryptophan for an arginine (R2726W), at a site immediately adjacent to a consensus sequence recognized by a cellular protease. Six other individuals in the proband's family had the FBN1 mutation that segregated with tall stature. None of the affected individuals have cardiac or ocular manifestations of the Marfan syndrome. This mutation identifies a putative site for profibrillin to fibrillin processing, and is associated with isolated skeletal features of the Marfan syndrome, indicating that the FBN1 gene is one of the genes that determines height in the general population. The cellular effect of the mutation may be equivalent to a "null" FBN1 allele and may define the phenotype associated with FBN1 "null" alleles.
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