Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel SOS1 mutation in Costello/CFC syndrome affects signaling in both RAS and PI3K pathways.

Journal of receptor and signal transduction research - 1 Apr 2013

Tumurkhuu Munkhtuya, Saitoh Makiko, Takita Junko, Mizuno Yoko, Mizuguchi Masashi

Abstract excerpt

CONTEXT: Pathological upregulation of the RAS/MAPK pathway causes Costello, Noonan and cardio-facio-cutaneous (CFC) syndrome; however, little is known about PI3K/AKT signal transduction in these syndromes. Previously, we found a novel mutation of the SOS1 gene (T158A) in a patient with Costello/C...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Costello Syndrome
Share to HEK293 Cells
Share to Oncogene Protein v-akt

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phosphatidylinositol 3-Kinases

Share to Phosphorylation

Share to ras Proteins

Share to Signal Transduction

Share to SOS1 Protein

Source

Identifiers

PMID: 23528009
DOI: 10.3109/10799893.2013.779279

Genes

SOS1
EGF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23528009-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel SOS1 mutation in Costello/CFC syndrome affects signaling in both RAS and PI3K pathways.PMID 23528009Read ↗

Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.Semantic proximity Read ↗

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.Semantic proximity Read ↗

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.Semantic proximity Read ↗

<i>SOS1</i> is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeSemantic proximity Read ↗

Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.Semantic proximity Read ↗

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.Semantic proximity Read ↗

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.Semantic proximity Read ↗

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.Semantic proximity Read ↗

Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.Semantic proximity Read ↗

Mutation in Sos1 dominantly enhances a weak allele of the EGFR, demonstrating a requirement for Sos1 in EGFR signaling and development.Semantic proximity Read ↗

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.Semantic proximity Read ↗

Development of Noonan syndrome by deregulation of allosteric SOS autoactivation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.