Associated Papers
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.
Eboreime J et al.
Human Mutation, 2022
36349709 (PubMed )
Supplement: HUMU-43-2205-s002.pdf
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP et al.
Bmc Medical Genetics, 2020
Exploring the effect of D61G mutation on SHP2 cause gain of function activity by a molecular dynamics study.
Li HL et al.
Journal of Biomolecular Structure & Dynamics, 2018
Functional variation of SHP-2 promoter is associated with preterm birth and delayed myelination and motor development in preterm infants.
Shim SY et al.
Scientific Reports, 2017
The first PTPN1 1 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies.
El Bouchikhi I et al.
Turkish Journal of Medical Sciences, 2015
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.
Park HD et al.
Annals of Hematology, 2012
Genome wide analysis of pathogenic SH2 domain mutations.
Lappalainen I et al.
Proteins, 2008
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.
Yamamoto T et al.
Leukemia Research, 2006
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
Kratz CP et al.
Blood, 2005
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
Kosaki K et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Tartaglia M et al.
American Journal of Human Genetics, 2002
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
Tartaglia M et al.
Nature Genetics, 2001
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