PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
about
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.Noonan syndromeEndothelial lineage-mediated loss of the GATA cofactor Friend of GATA 1 impairs cardiac developmentThe role of Src homology 2 containing protein tyrosine phosphatase 2 in vascular smooth muscle cell migration and proliferation.SHP-2 is required for the maintenance of cardiac progenitors.Gene expression in pediatric heart disease with emphasis on conotruncal defects.Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling.Xenopus: An emerging model for studying congenital heart disease.SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton.The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.Atrioventricular canal defect in patients with RASopathies.Noonan syndrome - a new survey.Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.Blocking the function of tyrosine phosphatase SHP-2 by targeting its Src homology 2 domains.Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?
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P2860
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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name
PTPN11 mutations in Noonan syn ...... t mutations in exons 3 and 13.
@en
PTPN11 mutations in Noonan syn ...... t mutations in exons 3 and 13.
@nl
type
label
PTPN11 mutations in Noonan syn ...... t mutations in exons 3 and 13.
@en
PTPN11 mutations in Noonan syn ...... t mutations in exons 3 and 13.
@nl
prefLabel
PTPN11 mutations in Noonan syn ...... t mutations in exons 3 and 13.
@en
PTPN11 mutations in Noonan syn ...... t mutations in exons 3 and 13.
@nl
P2093
P2860
P356
P1433
P1476
PTPN11 mutations in Noonan syn ...... t mutations in exons 3 and 13.
@en
P2093
Craigen WJ
Fernbach S
Maheshwari M
Molinari L
P2860
P304
P356
10.1002/HUMU.10129
P577
2002-10-01T00:00:00Z