Leptin signalling pathways in hypothalamic neurons.
Seoul, South Korea. In Cell Mol Life Sci, Feb 2016
The signaling pathways known to mediate the actions of leptin include JAK-STAT signaling, PI3K-Akt-FoxO1 signaling, SHP2-ERK signaling, AMPK signaling, and mTOR-S6K signaling.
The genomic landscape of juvenile myelomonocytic leukemia.
San Francisco, United States. In Nat Genet, Nov 2015
Mutations in NF1, NRAS, KRAS, PTPN11 or CBL occur in 85% of patients, yet there are currently no risk stratification algorithms capable of predicting which patients will be refractory to conventional treatment and could therefore be candidates for experimental therapies.
Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.
San Francisco, United States. In Nat Genet, Oct 2015
Instead, other genetic alterations known to activate the MAPK and PI3K signaling cascades were identified in 73% of samples, affecting NF1, CBL, ERBB2, MAP2K1, MAP3K1, BRAF, EGFR, PTPN11, MET, RAC1, SOS2, NRAS and PIK3CA, some of which are candidates for targeted therapies.
SHP2 sails from physiology to pathology.
Toulouse, France. In Eur J Med Genet, Oct 2015
Over the two past decades, mutations of the PTPN11 gene, encoding the ubiquitous protein tyrosine phosphatase SHP2 (SH2 domain-containing tyrosine phosphatase 2), have been identified as the causal factor of several developmental diseases (Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML), and metachondromatosis), and malignancies (juvenile myelomonocytic leukemia).
LABORATORY DIAGNOSIS OF DENGUE VIRUS INFECTIONS.
In Southeast Asian J Trop Med Public Health, 2014
In recent years, PCR (polymerase chain reaction) has become an important tool as a quick method for diagnosis of dengue, another is detection of NS1 antigen, using commercial ELISA kit.
Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
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Uppsala, Sweden. In Bmc Med Genet, 2014
Comprehensive mutation analysis of NF1, PTPN11, SOS1, CBL, BRAF, RAF1, SHOC2, MAP2K2, MAP2K1, SPRED1, NRAS, HRAS and KRAS was performed using targeted next-generation sequencing.