Mutation
Research News and Information

Sunday, November 22, 2009

Genetic complexity of absence seizures in substrains of C3H mice.

15 Dec 2009 Absence epilepsy is a common form of idiopathic generalized epilepsy whose etiology is poorly understood because of genetic and phenotypic heterogeneity. The inbred mouse strain C3H/He exhibits spontaneous absence seizures characterized by spike and ... Read more...

Pilocytic astrocytoma in a child with Noonan syndrome.

29 Nov 2009 Noonan syndrome (NS; MIM 163950) is an autosomal dominant dysmorphic syndrome characterized by distinct facial features, cardiac anomalies, short stature, and motor delay. Activating mutations in PTPN11, encoding the protein tyrosine phosphatase ... Read more...

Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor.

29 Nov 2009 Medulloblastoma, the most common pediatric malignant brain tumor often arises sporadically; however, in a subgroup of patients, there exist familial conditions such as Fanconi anemia with biallelic BRCA2 mutation that predispose patients to ... Read more...

Latest indexed articles for 'Mutation'

These are the very latest articles for this heading:

• Genetic complexity of absence seizures in substrains of C3H mice. 15 Dec 2009
• Novel multiple, monoallelic KRAS mutations at codon 12 and 13. 29 Nov 2009
• Pilocytic astrocytoma in a child with Noonan syndrome. 29 Nov 2009
• Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor. 29 Nov 2009
• Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities. 29 Nov 2009
• Multiply mutated Gaussia luciferases provide prolonged and intense bioluminescence. 25 Nov 2009
• PilM/N/O/P proteins form an inner membrane complex that affects the stability of the Pseudomonas aeruginosa type IV pilus secretin. 18 Nov 2009
• EGFR and KRAS status of primary sarcomatoid carcinomas of the lung: implications for anti-EGFR treatment of a rare lung malignancy. 13 Nov 2009
• Intrinsic resistance to the MEK1/2 inhibitor AZD6244 (ARRY-142886) is associated with weak ERK1/2 signalling and/or strong PI3K signalling in colorectal cancer cell lines. 13 Nov 2009
• The mechanisms underlying MMR deficiency in immunodeficiency-related non-Hodgkin lymphomas are different from those in other sporadic microsatellite instable neoplasms. 13 Nov 2009
• Absence of IDH2 codon 172 mutation in common human cancers. 13 Nov 2009
• Detection of epidermal growth factor receptor mutations in plasma by mutant-enriched PCR assay for prediction of the response to gefitinib in patients with non-small-cell lung cancer. 13 Nov 2009
• The Viracept-EMS case: impact and outlook. 10 Nov 2009
• Influence of aggregation propensity and stability on amyloid fibril formation as studied by Fourier transform infrared spectroscopy and two-dimensional COS analysis. 8 Nov 2009
• Myelodysplastic syndromes. 3 Nov 2009
• Normal spermatogenesis in a man with mutant luteinizing hormone. 3 Nov 2009
• A flavin cofactor-binding PAS domain regulates c-di-GMP synthesis in AxDGC2 from Acetobacter xylinum. Nov 2009
• Dramatic differences in organophosphorus hydrolase activity between human and chimeric recombinant mammalian paraoxonase-1 enzymes. Nov 2009
• Structure of a switchable subtilisin complexed with a substrate and with the activator azide. Nov 2009
• The heritability and genetics of frontotemporal lobar degeneration. Nov 2009

See a longer list of these articles.

Technical information about 'Mutation'

Definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

Descriptor UI: D009154

Alternative terms: Mutation; Mutations;

Related Mesh Headings: DNA Damage; Mutagens; Polymorphism, Restriction Fragment Length; Suppression, Genetic; Mutagenesis; Antimutagenic Agents;

Allowable Qualifiers: drug effects; genetics; immunology; physiology; radiation effects; ethics;

Tree Number: G05.365.590;

History Note: 64

Technical Notes: drug-induced mutation = MUTATION (IM) + specific drug with pertinent qualif (IM); radiation-induced mutation = MUTATION (IM) + RADIATION EFFECTS or specific rad term (IM); /drug eff & /rad eff permitted only for eff of drugs or eff of rad on an already mutated organism or after mutation but read text carefully