"Frameshift Mutation" 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 type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
| Descriptor ID |
D016368
|
| MeSH Number(s) |
G05.365.590.265
|
| Concept/Terms |
Frameshift Mutation- Frameshift Mutation
- Frameshift Mutations
- Mutations, Frameshift
- Out-of-Frame Mutation
- Mutation, Out-of-Frame
- Mutations, Out-of-Frame
- Out of Frame Mutation
- Out-of-Frame Mutations
- Frame Shift Mutation
- Frame Shift Mutations
- Mutation, Frame Shift
- Mutations, Frame Shift
- Mutation, Frameshift
Out-of-Frame Insertion- Out-of-Frame Insertion
- Insertion, Out-of-Frame
- Insertions, Out-of-Frame
- Out of Frame Insertion
- Out-of-Frame Insertions
Out-of-Frame Deletion- Out-of-Frame Deletion
- Deletion, Out-of-Frame
- Deletions, Out-of-Frame
- Out of Frame Deletion
- Out-of-Frame Deletions
|
Below are MeSH descriptors whose meaning is more general than "Frameshift Mutation".
Below are MeSH descriptors whose meaning is more specific than "Frameshift Mutation".
This graph shows the total number of publications written about "Frameshift Mutation" by people in this website by year, and whether "Frameshift Mutation" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 0 | 1 | 1 |
| 2004 | 0 | 1 | 1 |
| 2006 | 0 | 1 | 1 |
| 2011 | 0 | 1 | 1 |
| 2014 | 1 | 0 | 1 |
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Below are the most recent publications written about "Frameshift Mutation" by people in Profiles.
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A new ?(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of ?-thalassemia. Hemoglobin. 2014; 38(6):444-6.
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Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum. Clin Exp Dermatol. 2011 Dec; 36(8):889-95.
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Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. J Hum Genet. 2011 Aug; 56(8):589-94.
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Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med. 2006 Nov 15; 174(10):1139-44.
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Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. J Clin Endocrinol Metab. 2004 Jun; 89(6):2916-22.
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Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. Nat Genet. 1996 Aug; 13(4):395-6.