Point Mutation
Research News and Information

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...

Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome.

13 Dec 2009 Frasier syndrome is characterized by a 46 XY disorder of sex development, nephropathy, and increased risk for gonadoblastoma due to Wilms tumor 1(WT1) mutation in the donor splice site of intron-9, resulting in the splice form +KTS. Germ cell tumors ... Read more...

Clinical performance of JAK2 V617F mutation detection assays in a molecular diagnostics laboratory: evaluation of screening and quantitation methods.

30 Oct 2009 The presence of the JAK2 V617F mutation is now part of clinical diagnostic algorithms, and JAK2 status is routinely assessed when BCR/ABL- chronic myeloproliferative neoplasms (MPNs) are suspected. The aim of this study was to evaluate performance ... Read more...

Latest indexed articles for 'Point Mutation'

These are the very latest articles for this heading:

• Alexander disease: An important mimicker of focal brainstem glioma. 13 Dec 2009
• Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. 13 Dec 2009
• Clinical performance of JAK2 V617F mutation detection assays in a molecular diagnostics laboratory: evaluation of screening and quantitation methods. 30 Oct 2009
• Atypical hemolytic-uremic syndrome. 20 Oct 2009
• X-linked thrombophilia with a mutant factor IX (factor IX Padua). 20 Oct 2009
• RAS and CSF3R mutations in severe congenital neutropenia. 13 Oct 2009
• Quantitative correlation between mRNA secondary structure around the region downstream of the initiation codon and translational efficiency in Escherichia coli. 13 Oct 2009
• Androgenic suppression of spreading depression in familial hemiplegic migraine type 1 mutant mice. 29 Sep 2009
• Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation. 29 Sep 2009
• Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. 27 Sep 2009
• De novo molecular modeling and biophysical characterization of Manduca sexta eclosion hormone. 27 Sep 2009
• 2D proteome analysis initiates new insights on the Salmonella Typhimurium LuxS protein. 13 Sep 2009
• Crystal structure and acyl chain selectivity of Escherichia coli LpxD, the N-acyltransferase of lipid A biosynthesis. 13 Sep 2009
• Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. 12 Sep 2009
• An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases. 9 Sep 2009
• A genome-wide view of Caenorhabditis elegans base-substitution mutation processes. 8 Sep 2009
• Deletion of Frs2alpha from the ureteric epithelium causes renal hypoplasia. 7 Sep 2009
• Mutation-induced reinforcement of prestin-expressing cells. 4 Sep 2009
• Epac2 induces synapse remodeling and depression and its disease-associated forms alter spines. 4 Sep 2009
• Medicine. Disrupting Hedgehog may reverse advanced cancer, if only temporarily. 2 Sep 2009

See a longer list of these articles.

Technical information about 'Point Mutation'

Definition: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

Descriptor UI: D017354

Alternative terms: Point Mutation; Mutation, Point; Mutations, Point; Point Mutations;

Related Mesh Headings: Mutation, Missense;

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

Tree Number: G05.365.590.675;

History Note: 93

Technical Notes: see MUTATION for correct use of /drug eff & /rad eff