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

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

European journal of human genetics : EJHG - 1 Feb 2011

Kleefstra Tjitske, Wortmann Saskia B, Rodenburg Richard J T, Bongers Ernie M H F, Hadzsiev Kinga, Noordam Cees, van den Heuvel Lambert P, Nillesen Willy M, Hollody Katalin, Gillessen-Kaesbach Gabrielle, Lammens Martin, Smeitink Jan A M, van der Burgt Ineke, Morava Eva

Abstract excerpt

Various syndromes of the Ras-mitogen-activated protein kinase (MAPK) pathway, including the Noonan, Cardio-Facio-Cutaneous, LEOPARD and Costello syndromes, share the common features of craniofacial dysmorphisms, heart defect and short stature. In a subgroup of patients, severe muscle hypotonia, c...

Read the complete abstract on PubMed

Topics

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

Share to Craniofacial Abnormalities
Share to Heart Defects, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to LEOPARD Syndrome

Share to MAP Kinase Signaling System

Share to Mitochondrial Encephalomyopathies

Share to Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Share to Skin Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 21063443
DOI: 10.1038/ejhg.2010.171
PMCID: PMC3025797

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21063443-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.PMID 21063443Read ↗

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disordersSemantic proximity Read ↗

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature.Semantic proximity Read ↗

Molecular characterization of individuals with RASopathies: Spectrum of genetic variants in a large Indian cohort.Semantic proximity Read ↗

Genetic and pathogenetic aspects of Noonan syndrome and related disorders.Semantic proximity Read ↗

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.Semantic proximity Read ↗

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.Semantic proximity Read ↗

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.Semantic proximity Read ↗

An updated inventory of genes essential for oxidative phosphorylation identifies a mitochondrial origin in familial Ménière’s diseaseSemantic proximity Read ↗

Maternal inheritance and the evaluation of oxidative phosphorylation diseases.Semantic proximity Read ↗

The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.Semantic proximity Read ↗

Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?Semantic proximity Read ↗

Clinical and molecular analysis of RASopathies in a group of Turkish patients.Semantic proximity Read ↗

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