Associated Papers
Familial colorectal cancer: search for novel predisposition genes.
Försti A et al.
Human Genomics, 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
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Yield of RASopathy Gene Panel in Karyotype-Normal or Microarray-Normal Fetuses With Increased Nuchal Translucency: A Systematic Review and Meta-Analysis.
Powel JE et al.
O&g Open, 2025
Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.
Försti A et al.
International Journal of Cancer, 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
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 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
Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.
Chumakova OS et al.
Genes, 2023
JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Bodaar K et al.
Leukemia, 2022
The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.
Park KJ et al.
Laboratory Medicine, 2021
Recent Advances of SHP2 Inhibitors in Cancer Therapy: Current Development and Clinical Application.
Yuan X et al.
Journal of Medicinal Chemistry, 2020
PTPN11 Plays Oncogenic Roles and Is a Therapeutic Target for BRAF Wild-Type Melanomas.
Hill KS et al.
Molecular Cancer Research : Mcr, 2019
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.
Pouliot GP et al.
Plos One, 2019
Evolutionarily Conserved Allosteric Communication in Protein Tyrosine Phosphatases.
Hjortness MK et al.
Biochemistry, 2018
Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.
Burns MA et al.
Leukemia, 2018
Favorable impact of allogeneic stem cell transplantation in patients with therapy-related myelodysplasia regardless of TP53 mutational status.
Aldoss I et al.
Haematologica, 2017
Targeted genomic analysis of Müllerian adenosarcoma.
Howitt BE et al.
The Journal of Pathology, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.
Wang SR et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
Jongmans MC et al.
European Journal of Human Genetics : Ejhg, 2011
Genetic assessment following increased nuchal translucency and normal karyotype.
Pergament E et al.
Prenatal Diagnosis, 2011
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
The tyrosine phosphatase Shp2 (PTPN11) in cancer.
Chan G et al.
Cancer Metastasis Reviews, 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
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
Tartaglia M et al.
Nature Genetics, 2003