Germline KRAS mutations cause Noonan syndrome
S Schubbert, M Zenker, SL Rowe, S Böll, C Klein… - Nature …, 2006 - nature.com
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and
cardiac defects. Heterozygous mutations in PTPN11, which encodes SHP-2, cause∼ 50 …
cardiac defects. Heterozygous mutations in PTPN11, which encodes SHP-2, cause∼ 50 …
[HTML][HTML] Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
M Tartaglia, S Martinelli, L Stella, G Bocchinfuso… - 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), whereas …
cause Noonan syndrome (NS) and the clinically related LEOPARD syndrome (LS), whereas …
Discovery of a novel shp2 protein tyrosine phosphatase inhibitor
L Chen, SS Sung, MLR Yip, HR Lawrence, Y Ren… - Molecular …, 2006 - ASPET
Shp2 is a nonreceptor protein tyrosine phosphatase (PTP) encoded by the PTPN11 gene. It
is involved in growth factorinduced activation of mitogen-activated protein (MAP) kinases …
is involved in growth factorinduced activation of mitogen-activated protein (MAP) kinases …
Inherited predispositions and hyperactive Ras in myeloid leukemogenesis
JO Lauchle, BS Braun, ML Loh… - Pediatric blood & …, 2006 - Wiley Online Library
Identifying the molecular basis for inherited cancer predispositions reveals genes that when
mutated, play a critical role in the earliest stages of tumorigenesis. Although rare, inherited …
mutated, play a critical role in the earliest stages of tumorigenesis. Although rare, inherited …
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies
Y Chen, J Takita, M Hiwatari, T Igarashi… - Genes …, 2006 - Wiley Online Library
PTPN11 has been identified as a causative gene in Noonan syndrome (NS), responsible for
about 50% of cases of NS. Given the association between NS and an increased risk of some …
about 50% of cases of NS. Given the association between NS and an increased risk of some …
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia
T Yamamoto, M Isomura, Y Xu, J Liang, H Yagasaki… - Leukemia research, 2006 - Elsevier
PTPN11, the gene which encodes protein tyrosine phosphatase SHP-2, plays an important
role in regulating intracellular signaling. Germline mutations in PTPN11 were first observed …
role in regulating intracellular signaling. Germline mutations in PTPN11 were first observed …
Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders
CP Kratz, S Schubbert, G Bollag, CM Niemeyer… - Cell Cycle, 2006 - Taylor & Francis
Ras proteins control a variety of critical cellular processes, and somatic mutations in RAS
genes (and other members of signaling networks regulated by Ras) are common in human …
genes (and other members of signaling networks regulated by Ras) are common in human …
[HTML][HTML] Shp-2 heterozygous hematopoietic stem cells have deficient repopulating ability due to diminished self-renewal
RJ Chan, Y Li, MN Hass, A Walter, CS Voorhorst… - Experimental …, 2006 - Elsevier
OBJECTIVE: Improved understanding of hematopoietic stem cell (HSC) differentiation,
proliferation, and self-renewal is sought to develop improved stem cell–based therapies as …
proliferation, and self-renewal is sought to develop improved stem cell–based therapies as …
[PDF][PDF] Pathogenic Mechanisms in Juvenile Myelomonocytic Leukemia
K Shannon - International Society of Paediatric Oncology - Citeseer
Juvenile myelomonocytic leukemia (JMML) is a relentless myeloproliferative disorder (MPD)
of young children characterized by over-production of myeloid lineage cells that infiltrate …
of young children characterized by over-production of myeloid lineage cells that infiltrate …