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

Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome.

European journal of medical genetics - 1 Nov 2022

Leegaard Anne, Gregersen Pernille A, Nielsen Trine Ø, Bjerre Jesper V, Handrup Mette M

Abstract excerpt

Infants with Noonan Syndrome and hypertrophic cardiomyopathy have a poor prognosis and a high mortality especially when diagnosed before six months of age. As for the majority of the RASopathies, no medical treatment has been approved for Noonan Syndrome. Meanwhile, several approved agents targeting the same RAS/MAPK signaling pathway are used in cancer treatment. In this case report we describe a child with...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy, Hypertrophic
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Galectins and Cancer Biology

Share to Mitogen-Activated Protein Kinase Kinases

Share to Mutation

Share to Noonan Syndrome

Share to Protein Tyrosine Phosphatases

Share to ras Proteins

Source

Identifiers

PMID: 36184070
DOI: 10.1016/j.ejmg.2022.104630

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome.PMID 36184070Read ↗

Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation.Semantic proximity Read ↗

Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndromeSemantic proximity Read ↗

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.Semantic proximity Read ↗

Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohortSemantic proximity Read ↗

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.Semantic proximity Read ↗

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.Semantic proximity Read ↗

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.Semantic proximity Read ↗

LZTR1-Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features.Semantic proximity Read ↗

[Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].Semantic proximity Read ↗

Ras-dependent RAF-MAPK hyperactivation by pathogenic RIT1 is a therapeutic target in Noonan syndrome-associated cardiac hypertrophySemantic proximity Read ↗

A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case studySemantic proximity Read ↗

Male infant with Noonan syndrome with RAF-1 gene mutation who survived hypertrophic cardiomyopathy-induced fatal heart failure and uncontrollable arrhythmias.Semantic proximity Read ↗

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