Denton PH, Fowlkes DM, Lord ST, Reisner HM (1988) Hemophilia B Durham: a mutation in the first EGF-like domain of factor IX that is characterized by polymerase chain reaction. Blood 72: 1407–1411 PubMed CAS Google Scholar DePalo L, Das M (1988) Epidermal growth factor-induced stimulat...
PNH is caused by an acquired genetic mutation that may happen any time after birth and results in the production of abnormal blood cells that are missing important protective blood cell surface proteins. These missing proteins enable the complement system, which is part of the immune system and i...
In yeast, two different mutation classes were identified, denoted sui1 and mof2. The human isoform resembles the sui1 mutant, that in yeast allows initiation to take place upon AUG-mismatch base pairing in absence of an initiator tRNA [10]. eIF1a is a 144AA long protein encoded on ...
Mutation in blood coagulation factor v associated with resistance to activated protein C. Nature 1994; 369: 64-67.Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369(6475):64-67....
Insulin receptor (IR) controls growth and metabolism. Insulin-like growth factor 2 (IGF2) has different binding properties on two IR isoforms, mimicking insulin’s function. However, the molecular mechanism underlying IGF2-induced IR activation remains u
Contact activation refers to the process of surface-induced activation of factor XII (FXII), which initiates blood coagulation and is captured by the activated partial thromboplastin time (aPTT) assay. Here, we show the mechanism and diagnostic implicati
Blood clotting factors are proteins that play a crucial role in the formation and stabilization of blood clots. They are involved in a cascade of reactions that result in the production of a fibrin mesh, which helps in the development of a stable clot. These factors also regulate the dissoluti...
ACE2 is an interferon stimulated gene (ISG) in lung epithelial cells, yet transcriptomic data from IFN treated peripheral blood mononuclear cells (PBMCs) never characterized ACE2 as an ISG19. Similarly, SERINC gene expression is not induced by type I IFN in PBMCs13. Therefore, we sought to...
Neither mutation affects primitive hematopoiesis but both severely impair AGM HSCs. Surprisingly, while c-myb mutants completely fail in definitive hematopoiesis, and thus lose all adult blood cells (Soza-Ried et al., 2010), ∼ 20% of runx1 mutant embryos are able to recover from the larval...
Polyclonal secondary FGFR2 mutations drive acquired resistance to FGFR inhibition in patients with FGFR2 fusion-positive cholangiocarcinoma. Cancer Discov. 7, 252–263 (2017). CAS PubMed Google Scholar Cowell, J. K. et al. Mutation in the FGFR1 tyrosine kinase domain or inactivation of PTEN ...