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ProteomicsIntronic CRISPR repair in LZTR1-deficient iPSC-cardiomyocytes from Noonan syndrome patients reveals new treatment options
Noonan syndrome (NS) is a multisystemic developmental disorder characterized by its clinical variability with common symptoms such as typical facial dysmorphism, short stature, developmental delay and intellectual disability as well as congenital heart disease. The disease is causally linked to gain...
ORGANISM(S): Homo sapiens (Human) 
2020-08-25 | PXD017530 | Pride
Stem cell Proteomics Ipsc Silac 
ProteomicsProteomic analysis of an induced pluripotent stem cell model reveals strategies to treat Juvenile Myelomonocytic Leukaemia
Juvenile myelomonocytic leukemia (JMML) is an aggressive myeloproliferative neoplasm of early childhood with a poor survival rate thus there is a requirement for improved treatment strategies. Induced pluripotent stem cells offer the ability to model disease and develop new treatment strategies. JMM...
ORGANISM(S): Homo sapiens (Human) 
2019-10-30 | PXD014708 | Pride
Ptpn11 Jq1 Noonan syndrome Jmml Cbl0137 
GenomicsChIP-seq NS5 RBPJ
Here we performed a ChIP-seq experiment on a sample of adherent cultures of mouse neural stem cells (NS5 cell line) under normal growth conditions. This resulted in the generation of a genome-wide map of RBPJ binding to chromatin.
ORGANISM(S): Mus musculus 
2016-09-09 | E-MTAB-4494 | biostudies-arrayexpress
UnknownLymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.
Not available
S-EPMC8832235 | biostudies-literature
UnknownShp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defects.
Not available
S-EPMC2151089 | biostudies-literature
UnknownNoonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
Not available
S-EPMC3097460 | biostudies-literature
UnknownExecutive and Social Functioning in Children and Adolescents With Noonan Syndromes: Cognition and Behavior.
Not available
S-EPMC12414317 | biostudies-literature
UnknownDevelopment of Noonan syndrome by deregulation of allosteric SOS autoactivation.
Not available
S-EPMC7521655 | biostudies-literature
UnknownThe lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
Not available
S-EPMC4930084 | biostudies-literature
UnknownGenotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Not available
S-EPMC10420167 | biostudies-literature
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