Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis

…, J Gotlib, S Meshinchi, MM Le Beau, PD Emanuel… - Blood, 2004 - ashpublications.org
The PTPN11 gene encodes SHP-2 (Src homology 2 domain–containing protein tyrosine
Phosphatase), a nonreceptor tyrosine protein tyrosine phosphatase (PTPase) that relays …

[PDF][PDF] Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

…, M Sorcini, C Schoch, R Foa, PD Emanuel… - The American Journal of …, 2006 - cell.com
Germline mutations in PTPN11, the gene encoding the protein tyrosine phosphatase SHP-2,
cause Noonan syndrome (NS) and the clinically related LEOPARD syndrome (LS), …

Selective hypersensitivity to granulocyte-macrophage colony-stimulating factor by juvenile chronic myeloid leukemia hematopoietic progenitors

PD Emanuel, LJ Bates, RP Castleberry, RJ Gualtieri… - 1991 - ashpublications.org
Juvenile chronic myelogenous leukemia (JCML) is a good model for the study of myeloproliferation
because JCML hematopoietic progenitor cells grow in vitro at very low cell densities …

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

…, CE Bueso-Ramos, PD Emanuel… - Blood, The Journal …, 2009 - ashpublications.org
Juvenile myelomonocytic leukemia is an aggressive myeloproliferative disorder characterized
by malignant transformation in the hematopoietic stem cell compartment with proliferation …

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

…, M Cetin, E Bergsträsser, PD Emanuel… - Blood, 2005 - ashpublications.org
Germ line PTPN11 mutations cause 50% of cases of Noonan syndrome (NS). Somatic
mutations in PTPN11 occur in 35% of patients with de novo, nonsyndromic juvenile …

The genomic landscape of juvenile myelomonocytic leukemia

…, B Carcamo, T Cooper, GV Dahl, PD Emanuel… - Nature …, 2015 - nature.com
Juvenile myelomonocytic leukemia (JMML) is a myeloproliferative neoplasm (MPN) of
childhood with a poor prognosis. Mutations in NF1, NRAS, KRAS, PTPN11 or CBL occur in 85% …

Mutations of the NF1 Gene in Children With Juvenile Myelomonocytic Leukemia Without Clinical Evidence of Neurofibromatosis, Type 1

LE Side, PD Emanuel, B Taylor… - Blood, The Journal …, 1998 - ashpublications.org
Juvenile myelomonocytic leukemia (JMML) is a pediatric myelodysplastic syndrome that is
associated with neurofibromatosis, type 1 (NF1). The NF1 tumor suppressor gene encodes …

Transplantation of umbilical cord blood after myeloablative therapy: analysis of engraftment [see comments]

…, B Schmeckpeper, N Shah, C Griffin, PD Emanuel… - 1992 - ashpublications.org
The possibility that umbilical cord and placental blood from an HLA- identical sibling might
produce stable donor-derived lymphohematopoietic engraftment was tested in a patient with …

TFIID sequence recognition of the initiator and sequences farther downstream in Drosophila class II genes.

BA Purnell, PA Emanuel, DS Gilmour - Genes & development, 1994 - genesdev.cshlp.org
Immunopurified TFIID produces a large DNase I footprint over the hsp70, hsp26, and histone
H3 promoters of Drosophila. These footprints span from the TATA element to a position …

The ELAV RNA-stability factor HuR binds the 5′-untranslated region of the human IGF-IR transcript and differentially represses cap-dependent and IRES-mediated …

…, NL Jackson, CY Chen, PD Emanuel… - Nucleic acids …, 2005 - academic.oup.com
The type I insulin-like growth factor receptor (IGF-IR) is an integral component in the control
of cell proliferation, differentiation and apoptosis. The IGF-IR mRNA contains an …