Type

Journal Article

Authors

O Hardiman
A Green
E Frost
B Corr
B J Traynor
S Ennis
M D Alexander
M J Greenway

Subjects

Biochemistry

Topics
ribonuclease pancreatic female genetics gene frequency alleles epidemiology dna apurinic or apyrimidinic site lyase male mutation missense chromosomes human pair 14 genetic predisposition to disease vascular endothelial growth factor a physiology ireland middle aged aged codon point mutation angiogenin polymorphism single nucleotide chromosome mapping cohort studies amino acid substitution polymerase chain reaction amyotrophic lateral sclerosis apex1 protein human humans

A novel candidate region for ALS on chromosome 14q11.2. (2004)

Abstract Sequence variations with biologic effect in ALS have been identified in the gene for vascular endothelial growth factor (VEGF). The gene for a related protein, angiogenin, lies on chromosome 14q11.2. Analysis of the angiogenin (ANG) gene in the authors' population has demonstrated a significant allelic association with the rs11701 single nucleotide polymorphism (SNP) and identified a novel mutation in two individuals with sporadic ALS that potentially inhibits angiogenin function. These observations propose a candidate region for ALS on chromosome 14q11.2 and suggest that other genes with similar function to VEGF may be important in the pathogenesis of ALS.
Collections Ireland -> Royal College of Surgeons in Ireland -> PubMed

Full list of authors on original publication

O Hardiman, A Green, E Frost, B Corr, B J Traynor, S Ennis, M D Alexander, M J Greenway

Experts in our system

1
Orla Hardiman
Trinity College Dublin
Total Publications: 132
 
2
Andrew Green
University College Dublin
Total Publications: 25
 
3
Sean Ennis
University College Dublin
Total Publications: 52