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ProteomicsLztr1 loss leads to Noonan syndrome-like vascular defects by dysregulating vesicular trafficking
Mutations in LZTR1, an adaptor for cullin 3 (CUL3) ubiquitin ligase complex, are associated with glioma, hepatocarcinoma, paediatric cancers, Schwannomatosis, and Noonan syndrome (NS). NS is a poorly understood and complex disease. The variety of NS phenotypes makes it challenging to elucidate the m...
ORGANISM(S): Homo sapiens (Human) 
2020-10-14 | PXD011926 | Pride
Hela cells Vegf Noonan syndrome Lztr1 Vesicular trafficking Ubiquitin Chmp1b 
TranscriptomicsLEOPARD Syndrome iPS, BJ iPS and Fibroblasts
Expression data from LEOPARD Syndrome-iPS clones, BJ-iPS cells and parental Fibroblasts 9 samples in total are analyzed. Among 22011 genes in expression data, there are 3657 genes with at least 2 fold expression change between the average of the three fibroblast lines versus all of the iPS lines/HE...
ORGANISM(S): Homo sapiens 
2010-06-24 | E-GEOD-20473 | biostudies-arrayexpress
GenomicsCRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy I
CRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy I
PRJNA606796 | ENA
GenomicsCRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy II
CRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy II
PRJNA606802 | ENA
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 
GenomicsInflammation potentiates JMML-like blood defects in Shp2 mutant Noonan syndrome
Inflammation potentiates JMML-like blood defects in Shp2 mutant Noonan syndrome
PRJNA705198 | ENA
GenomicsCell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome
Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome
PRJNA777959 | ENA
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 
TranscriptomicsCRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy I
We profiled RNA expression in human iPSC-derived cardiomyocytes from patients with LZTR1-associated Noonan syndrome
ORGANISM(S): Homo sapiens 
2020-08-25 | GSE145348 | GEO
TranscriptomicsCRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy II
We profiled RNA expression in human iPSC-derived cardiomyocytes from patients with LZTR1-associated Noonan syndrome
ORGANISM(S): Homo sapiens 
2020-12-01 | GSE145349 | GEO
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