"Fibrillin-2" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A fibrillin (FBN2) that functions to regulate the assembly of ELASTIC FIBERS. Mutations in the FBN2 gene are associated with congenital contractural ARACHNODACTYLY.
| Descriptor ID |
D000071840
|
| MeSH Number(s) |
D09.400.430.875.750 D12.776.395.341.750 D12.776.860.300.400.750
|
| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Fibrillin-2".
Below are MeSH descriptors whose meaning is more specific than "Fibrillin-2".
This graph shows the total number of publications written about "Fibrillin-2" by people in this website by year, and whether "Fibrillin-2" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2013 | 0 | 1 | 1 |
| 2014 | 0 | 1 | 1 |
| 2024 | 0 | 1 | 1 |
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Below are the most recent publications written about "Fibrillin-2" by people in Profiles.
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Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications. Am J Hum Genet. 2024 Oct 03; 111(10):2219-2231.
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Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Hum Mol Genet. 2014 Nov 01; 23(21):5827-37.
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Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation. Circ Res. 2013 Oct 25; 113(10):1159-68.
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A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. Genet Test Mol Biomarkers. 2009 Jun; 13(3):295-300.
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Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association? Eur J Hum Genet. 1999 Jul; 7(5):609-14.