Point Mutation - Genetics
Research News and Information

Sunday, November 22, 2009

Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.

29 Sep 2009 We report the clinical, histochemical, and molecular genetic findings in a patient with progressive mitochondrial cytopathy due to the m.8313G>A point mutation in the mitochondrial tRNA(Lys) (MTTK) gene. The clinical features in this case are ... Read more...

Polymorphisms in thrombophilia and renin-angiotensin system pathways, preterm delivery, and evidence of placental hemorrhage.

30 Aug 2009 OBJECTIVE: The purpose of this study was to analyze functional polymorphisms in candidate genes (methylenetetrahydrofolate reductase [MTHFR]677C>T, MTHFR1298A>C, factor 5 1691G>A [FVL], and angiotensinogen (AGT)-6G>A) in relation to a hypothesized ... Read more...

How to arm a supervillin: designing F-actin binding activity into supervillin headpiece.

12 Aug 2009 Villin-type headpiece domains are compact motifs that have been used extensively as model systems for protein folding. Although the majority of headpiece domains bind actin, there are some that lack this activity. Here, we present the first NMR ... Read more...

Latest indexed articles for 'Point Mutation - Genetics'

These are the very latest articles for this heading:

• Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation. 29 Sep 2009
• Polymorphisms in thrombophilia and renin-angiotensin system pathways, preterm delivery, and evidence of placental hemorrhage. 30 Aug 2009
• How to arm a supervillin: designing F-actin binding activity into supervillin headpiece. 12 Aug 2009
• Molecular surveillance of Plasmodium falciparum chloroquine resistance transporter variant T76 in Jazan area, Kingdom of Saudi Arabia. 30 Jul 2009
• Plasmodium falciparum circumsporozoite protein: epidemiological variations among field isolates prevalent in India. 30 Jul 2009
• Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. 26 Jul 2009
• Regulation of soluble guanylyl cyclase-alpha1 expression in chronic hypoxia-induced pulmonary hypertension: role of NFATc3 and HuR. 8 Jul 2009
• Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice. 7 Jul 2009
• Papillon-Lefevre syndrome: clinical presentation and a brief review. 29 Jun 2009
• Cerebral cavernous malformations: somatic mutations in vascular endothelial cells. 29 Jun 2009
• Hedgehog signalling: emerging evidence for non-canonical pathways. 29 Jun 2009
• Cerebral sinus thrombosis in a child with active ulcerative colitis and factor V Leiden. 29 Jun 2009
• Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: electroclinical, genetic, and EEG/fMRI findings. 20 Jun 2009
• Reliable prediction of protein thermostability change upon double mutation from amino acid sequence. 15 Jun 2009
• Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy. 15 Jun 2009
• Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia. 14 Jun 2009
• Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets. 8 Jun 2009
• Site-directed mutagenesis of multi-copy-number plasmids: Red/ET recombination and unique restriction site elimination. 30 May 2009
• Analysis of a correlation between the BRAF V600E mutation and abnormal DNA mismatch repair in patients with sporadic endometrial cancer. 30 May 2009
• Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. 30 May 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