Associated Papers
Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.
Hirabayashi S et al.
American Journal of Hematology, 2026
Epidemiological survey of potential familial myelodysplastic syndromes/acute myeloid leukemia in Hawaii.
Takaoka K et al.
International Journal of Hematology, 2026
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
Demir K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 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
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
Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.
Chen Q et al.
Heliyon, 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
Cell phenotypes can be predicted from propensities of protein conformations.
Nussinov R et al.
Current Opinion in Structural Biology, 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
The longitudinal dynamics and natural history of clonal haematopoiesis.
Fabre MA et al.
Nature, 2022
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Wenger BM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics.
Morita K et al.
Nature Communications, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Understanding the Mechanism of Recognition of Gab2 by the N-SH2 Domain of SHP2.
Visconti L et al.
Life (basel, Switzerland), 2020
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP et al.
Bmc Medical Genetics, 2020
Unveiling the Molecular Basis of the Noonan Syndrome-Causing Mutation T42A of SHP2.
Toto A et al.
International Journal of Molecular Sciences, 2020
Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.
Yang L et al.
Bmc Medical Genetics, 2018
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Maher GJ et al.
Genome Research, 2018
Macrophage-Restricted Shp2 Tyrosine Phosphatase Acts as a Rheostat for MMP12 through TGF-β Activation in the Prevention of Age-Related Emphysema in Mice.
Xu J et al.
Journal of Immunology (baltimore, Md. : 1950), 2017
The genomic landscape of juvenile myelomonocytic leukemia.
Stieglitz E et al.
Nature Genetics, 2015
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
Kratz CP et al.
British Journal of Cancer, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation.
Choi JH et al.
Hormone Research in Paediatrics, 2012
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
Lauriol J et al.
Trends in Cardiovascular Medicine, 2011
Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes.
Gómez-Carballa A et al.
Plos One, 2011
Genetic assessment following increased nuchal translucency and normal karyotype.
Pergament E et al.
Prenatal Diagnosis, 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
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
Ko JM et al.
Journal of Human Genetics, 2008
[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].
Ferreira LV et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2007
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.
Chen Y et al.
Genes, Chromosomes & Cancer, 2006
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
Tartaglia M et al.
American Journal of Human Genetics, 2006
PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.
Ferreira LV et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Genotype-phenotype correlations in Noonan syndrome.
Zenker M et al.
The Journal of Pediatrics, 2004
SHP-2 and myeloid malignancies.
Tartaglia M et al.
Current Opinion in Hematology, 2004