Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice.
Authors Colmenares Clemencia; Heilstedt Heidi A; Shaffer Lisa G; Schwartz Stuart; Berk Michael; Murray Jeffrey C; Stavnezer Ed;
JournalNat Genet
PubMed ID11731796
'Experiments involving overexpression of Ski have suggested that this gene is involved in neural tube development and muscle differentiation. In agreement with these findings, Ski-/- mice display a cranial neural tube defect that results in exencephaly and a marked reduction in skeletal muscle mass. Here we show that the penetrance ... More
Cloning and characterization of a family of proteins associated with Mpl.
'Thrombopoietin (TPO) controls the formation of megakaryocytes and platelets from hematopoietic stem cells via activation of the c-Mpl receptor and multiple downstream signal transduction pathways. We used two-hybrid screening to identify new proteins that interacted with the cytoplasmic domain of Mpl, and we found a new family of proteins designated ... More
Endothelial induction of fgl2 contributes to thrombosis during acute vascular xenograft rejection.
AuthorsGhanekar A, Mendicino M, Liu H, He W, Liu M, Zhong R, Phillips MJ, Levy GA, Grant DR,
JournalJ Immunol
PubMed ID15100314
Thrombosis is a prominent feature of acute vascular rejection (AVR), the current barrier to survival of pig-to-primate xenografts. Fibrinogen-like protein 2 (fgl2/fibroleukin) is an inducible prothrombinase that plays an important role in the pathogenesis of fibrin deposition during viral hepatitis and cytokine-induced fetal loss. We hypothesized that induction of fgl2 ... More
Structural and functional genomics of the CPT1B gene for muscle-type carnitine palmitoyltransferase I in mammals.
Authors van der Leij Feike R; Cox Keith B; Jackson Vicky N; Huijkman Nicolette C A; Bartelds Beatrijs; Kuipers Jaap R G; Dijkhuizen Trijnie; Terpstra Peter; Wood Philip A; Zammit Victor A; Price Nigel T;
JournalJ Biol Chem
PubMed ID12015320
Muscle-type carnitine palmitoyltransferase I (M-CPT I) is a key enzyme in the control of beta-oxidation of long-chain fatty acids in the heart and skeletal muscle. Because knowledge of the mammalian genes encoding M-CPT I may aid in studies of disturbed energy metabolism, we obtained new genomic and cDNA data for ... More