Ontology highlight
ABSTRACT:
SUBMITTER: Khoriaty R
PROVIDER: S-EPMC4906273 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Khoriaty Rami R Everett Lesley L Chase Jennifer J Zhu Guojing G Hoenerhoff Mark M McKnight Brooke B Vasievich Matthew P MP Zhang Bin B Tomberg Kärt K Williams John J Maillard Ivan I Ginsburg David D
Scientific reports 20160614
In humans, loss of function mutations in SEC23B result in Congenital Dyserythropoietic Anemia type II (CDAII), a disease limited to defective erythroid development. Patients with two nonsense SEC23B mutations have not been reported, suggesting that complete SEC23B deficiency might be lethal. We previously reported that SEC23B-deficient mice die perinatally, exhibiting massive pancreatic degeneration and that mice with hematopoietic SEC23B deficiency do not exhibit CDAII. We now show that SEC23B ...[more]