title: The GNAS1 gene in myelodysplastic syndromes (MDS).
abstract: GNAS1 gene is located at the long arm of chromosome 20 (q13.32). GNAS1 gene deletion has never been investigated in MDS. A GNAS1 activating mutation (R201) was recently found in MDS. We applied FISH and DHPLC plus sequencing to investigate GNAS1 gene in MDS cases with and without del(20q) at karyotype.
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Danika
authors.initials: D
authors.lastname: Di Giacomo
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Anair Graciela
authors.initials: AG
authors.lastname: Lema Fernandez
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Pierini
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Crescenzi
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Brandimarte
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Matteucci
authors.affiliation: Institute of Hematology and Medical Oncology "Seràgnoli", University of Bologna, Bologna, Italy.
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Testoni
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy. Electronic address: cristina.mecucci@unipg.it.
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D000368:Aged; D002864:Chromogranins; D002890:Chromosomes, Human, Pair 20; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics*
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs
keywords: GNAS1; Haplo-insufficiency; MDS; del(20q)/20q−