title: Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure.
abstract: FOXO3A and FOXO1A are excellent candidate genes for the development of premature ovarian failure and have not been analyzed previously in POF patients. Potentially causal mutations in FOXO3A (2/90; 2.2%) and FOXO1A (1/90; 1.1%) were identified in POF patients; however, the pathological role of these mutations will be determined only by screening increased numbers of patients and controls, or by functional studies.
authors.affiliation: Department of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
authors.forename: Wendy J
authors.initials: WJ
authors.lastname: Watkins
authors.forename: Alexandra J
authors.initials: AJ
authors.lastname: Umbers
authors.forename: Kathryn J
authors.initials: KJ
authors.lastname: Woad
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Harris
authors.forename: Ingrid M
authors.initials: IM
authors.lastname: Winship
authors.forename: Ksenija
authors.initials: K
authors.lastname: Gersak
authors.forename: Andrew N
authors.initials: AN
authors.lastname: Shelling
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D000071161:Forkhead Box Protein O1; D000071316:Forkhead Box Protein O3; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D009154:Mutation; D009520:New Zealand / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide; D016649:Primary Ovarian Insufficiency / Q000453:epidemiology* / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D017524:Slovenia / Q000453:epidemiology
chemical_list: C085126:FOXO1 protein, human; C499517:FOXO3 protein, human; D000071161:Forkhead Box Protein O1; D000071316:Forkhead Box Protein O3; D051858:Forkhead Transcription Factors