Article
Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.
Blood - 24 Oct 2024
Zerella Jiarna R, Homan Claire C, Arts Peer, Lin Xuzhu, Spinelli Sam J, Venugopal Parvathy, Babic Milena, Brautigan Peter J, Truong Lynda, Arriola-Martinez Luis, Moore Sarah, Hollins Rachel, Parker Wendy T, Nguyen Hung, Kassahn Karin S, Branford Susan, Feurstein Simone, Larcher Lise, Sicre de Fontbrune Flore, Demirdas Serwet, de Munnik Sonja, Antoine-Poirel Hélène, Brichard Benedicte, Mansour Sahar, Gordon Kristiana, Wlodarski Marcin W, Koppayi Ashwin, Dobbins Sara, Mutsaers Pim G N J, Nichols Kim E, Oak Ninad, DeMille Desiree, Mao Rong, Crawford Ali, McCarrier Julie, Basel Donald, Flores-Daboub Josue, Drazer Michael W, Phillips Kerry, Poplawski Nicola K, Birdsey Graeme M, Pirri Daniela, Ostergaard Pia, Simons Annet, Godley Lucy A, Ross David M, Hiwase Devendra K, Soulier Jean, Brown Anna L, Carmichael Catherine L, Scott Hamish S, Hahn Christopher N
Abstract excerpt
ABSTRACT: The genomics era has facilitated the discovery of new genes that predispose individuals to bone marrow failure (BMF) and hematological malignancy (HM). We report the discovery of ETS-related gene (ERG), a novel, autosomal dominant BMF/HM predisposition gene. ERG is a highly constrained transcription factor that is critical for definitive hematopoiesis, stem cell function, and platelet maintenance. ERG...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.