Cooperating gene mutations in acute myeloid leukemia: a review of the literature

A Renneville, C Roumier, V Biggio, O Nibourel… - leukemia, 2008 - nature.com
Acute myeloid leukemia (AML) is a heterogeneous group of neoplastic disorders with great
variability in clinical course and response to therapy, as well as in the genetic and molecular …

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

M Tartaglia, Y Aoki, BD Gelb - American Journal of Medical …, 2022 - Wiley Online Library
Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK)
cascade underlies the RASopathies, a family of clinically related disorders affecting …

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 …

PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase

RJ Chan, GS Feng - Blood, 2007 - ashpublications.org
Elucidation of the molecular mechanisms underlying carcinogenesis has benefited
tremendously from the identification and characterization of oncogenes and tumor …

Noonan syndrome and related disorders: genetics and pathogenesis

M Tartaglia, BD Gelb - Annu. Rev. Genomics Hum. Genet., 2005 - annualreviews.org
▪ Abstract Noonan syndrome is a pleiomorphic autosomal dominant disorder with short
stature, facial dysmorphia, webbed neck, and heart defects. In the past decade, progress …

Germ-line and somatic PTPN11 mutations in human disease

M Tartaglia, BD Gelb - European journal of medical genetics, 2005 - Elsevier
Reversible protein tyrosyl phosphorylation of cell surface receptors and downstream
intracellular transducers is a major regulatory mechanism used to modulate cellular …

Structure, function, and pathogenesis of SHP2 in developmental disorders and tumorigenesis

WQ Huang, Q Lin, X Zhuang, LL Cai… - Current cancer drug …, 2014 - ingentaconnect.com
Src homology 2 (SH2)-containing protein tyrosine phosphatase 2 (SHP2), encoded by the
human PTPN11 gene, is a ubiquitously expressed protein tyrosine phosphatase (PTP) that …

Overexpression of Shp2 tyrosine phosphatase is implicated in leukemogenesis in adult human leukemia

R Xu, Y Yu, S Zheng, X Zhao, Q Dong, Z He, Y Liang… - Blood, 2005 - ashpublications.org
Shp2 tyrosine phosphatase plays a critical role in hematopoiesis, and dominant active
mutations have been detected in the human gene PTPN11, encoding Shp2, in child …

Pathogenesis of acute myeloid leukaemia and inv (16)(p13; q22): a paradigm for understanding leukaemogenesis?

JT Reilly - British journal of haematology, 2005 - Wiley Online Library
Acute myeloid leukaemia (AML) has been proposed to arise from the collaboration between
two classes of mutation, a class I, or proliferative, mutation and a class II, or blocking …

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 …