title: Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome.
abstract: Mutations in LKB1 lead to Peutz-Jeghers syndrome (PJS). However, only a subset of PJS patients harbours LKB1 mutations. We performed a mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in 28 LKB1-negative PJS patients. No disease-causing mutations were detected in the studied genes in PJS patients from different European populations.
authors.affiliation: Department of Medical Genetics, Biomedicum Helsinki (Haartmaninkatu 8), University of Helsinki, Helsinki FIN-00014, Finland.
authors.forename: P
authors.initials: P
authors.lastname: Alhopuro
authors.forename: P
authors.initials: P
authors.lastname: Katajisto
authors.forename: R
authors.initials: R
authors.lastname: Lehtonen
authors.forename: S K
authors.initials: SK
authors.lastname: Ylisaukko-Oja
authors.forename: L
authors.initials: L
authors.lastname: Näätsaari
authors.forename: A
authors.initials: A
authors.lastname: Karhu
authors.forename: A M
authors.initials: AM
authors.lastname: Westerman
authors.forename: J H P
authors.initials: JH
authors.lastname: Wilson
authors.forename: F W M
authors.initials: FW
authors.lastname: de Rooij
authors.forename: T
authors.initials: T
authors.lastname: Vogel
authors.forename: G
authors.initials: G
authors.lastname: Moeslein
authors.forename: I P
authors.initials: IP
authors.lastname: Tomlinson
authors.forename: L A
authors.initials: LA
authors.lastname: Aaltonen
authors.forename: T P
authors.initials: TP
authors.lastname: Mäkelä
authors.forename: V
authors.initials: V
authors.lastname: Launonen
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics*; D004265:DNA Helicases; D006801:Humans; D007438:Introns; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D033942:Adaptor Proteins, Vesicular Transport; D009687:Nuclear Proteins; C476400:STRADA protein, human; D014157:Transcription Factors; C084108:SMARCA4 protein, human; D004265:DNA Helicases