Associated Papers
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities.
Liu Y et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Prenatal whole-exome sequencing in fetuses with increased nuchal translucency.
Cao C et al.
Molecular Genetics & Genomic Medicine, 2023
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
A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.
Wang N et al.
Bmc Gastroenterology, 2020
Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.
Narayanan DL et al.
Indian Pediatrics, 2017
Deletion of the tyrosine phosphatase Shp2 in Sertoli cells causes infertility in mice.
Hu X et al.
Scientific Reports, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
Lauriol J et al.
Trends in Cardiovascular Medicine, 2011
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
Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?
Kitsiou-Tzeli S et al.
Hormone Research, 2006
Mutation analysis of PTPN11 in Noonan syndrome by WAVE.
Elanko N et al.
Methods in Molecular Medicine, 2006
[Hereditary syndromes with congenital cardiac defects and abnormalities of the skin especially in the LEOPARD syndrome (author's transl)].
Schmidt H
Dermatologische Monatschrift, 1980