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Mutation, Missense
Research News and Information
Definition of 'Mutation, Missense'A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) Common names: Mutation, Missense; Missense Mutation; Missense Mutations; Mutations, Missense |
Saturday, November 21, 2009
Alexander disease: An important mimicker of focal brainstem glioma.
13 Dec 2009 
We report the case of a 6-year-old male who was referred to a tertiary oncology center with a focal brainstem lesion which was presumed to be neoplastic. Due to the symmetric nature of the lesion on magnetic resonance imaging, the evaluation was ... Read more...
30 Oct 2009 The breast cancer tumor suppressor protein BRCA1 is involved in DNA repair and cell cycle control. Mutations at the two C-terminal tandem (BRCT) repeats of BRCA1 detected in breast tumor patients were identified either to lower the stability of the ... Read more...
Hereditary multiple exostoses and juvenile colon carcinoma: A case with a common genetic background?
30 Oct 2009 A case of obstructing colon cancer is described in a 31-year-old patient affected by hereditary multiple exostoses. The association of these two rare conditions, which has never been described previously, and their early onset prompt us to discuss ... Read more...
Latest indexed articles for 'Mutation, Missense'
These are the very latest articles for this heading:
- Alexander disease: An important mimicker of focal brainstem glioma. 13 Dec 2009
- Characterization of cancer-linked BRCA1-BRCT missense variants and their interaction with phosphoprotein targets. 30 Oct 2009
- Hereditary multiple exostoses and juvenile colon carcinoma: A case with a common genetic background? 30 Oct 2009
- Granzyme A is a proinflammatory protease.
27 Oct 2009 - FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome. 20 Oct 2009
- X-linked thrombophilia with a mutant factor IX (factor IX Padua). 20 Oct 2009
- Implications of hypertrophic cardiomyopathy transmitted by sperm donation. 19 Oct 2009
- Modification of protein crystal packing by systematic mutations of surface residues: implications on biotemplating and crystal porosity. 13 Oct 2009
- Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India. 29 Sep 2009
- Bone marrow-derived cells in the central nervous system of a mouse model of amyotrophic lateral sclerosis are associated with blood vessels and express CX(3)CR1. 29 Sep 2009
- Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. 29 Sep 2009
- X gene mutations in hepatitis B patients with cirrhosis, with and without hepatocellular carcinoma. 29 Sep 2009
- Analysis of the diversity of the HIV-1 pol gene and drug resistance associated changes among drug-naïve patients in Burkina Faso. 29 Sep 2009
- A comparison of HIV-1 drug susceptibility as provided by conventional phenotyping and by a phenotype prediction tool based on viral genotype. 29 Sep 2009
- De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 27 Sep 2009
- Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 22 Sep 2009
- The role of CBFbeta in AML1-ETO's activity. 22 Sep 2009
- Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. 21 Sep 2009
- NMDA receptor phosphorylation at a site affected in schizophrenia controls synaptic and behavioral plasticity. 21 Sep 2009
- AMPA receptor ligand binding domain mobility revealed by functional cross linking. 21 Sep 2009
See a longer list of these articles.
Technical information about 'Mutation, Missense'
Definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Descriptor UI: D020125
Alternative terms: Mutation, Missense; Missense Mutation; Missense Mutations; Mutations, Missense;
Related Mesh Headings: Point Mutation; Amino Acid Substitution;
Allowable Qualifiers: drug effects; genetics; immunology; physiology; radiation effects; ethics;
Tree Number: G05.365.590.650;
History Note: 99