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

Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines.

American journal of physiology. Heart and circulatory physiology - 1 May 2015

Clay Sarah A, Domeier Timothy L, Hanft Laurin M, McDonald Kerry S, Krenz Maike

Abstract excerpt

Noonan syndrome with multiple lentigines (NSML) is primarily caused by mutations in the nonreceptor protein tyrosine phosphatase SHP2 and associated with congenital heart disease in the form of pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Our goal was to elucidate the cellular mechanisms underlying the development of HCM caused by the Q510E mutation in SHP2. NSML patients carrying this mutation...

Read the complete abstract on PubMed

Topics

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

Share to LEOPARD Syndrome
Share to Muscle Strength

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myocardial Contraction

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Share to Sarcomeres

Share to Sarcoplasmic Reticulum

Share to Sarcoplasmic Reticulum Calcium-Transporting ATPases

Share to Stroke Volume

Source

Open in PubMed Open full text

Identifiers

PMID: 25724491
DOI: 10.1152/ajpheart.00501.2014
PMCID: PMC4551123

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

Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines.PMID 25724491Read ↗

Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines.Semantic proximity Read ↗

Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines.Semantic proximity Read ↗

The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling.Semantic proximity Read ↗

LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling.Semantic proximity Read ↗

The Q510E mutation in Shp2 perturbs heart valve development by increasing cell migration.Semantic proximity Read ↗

The role of the protein tyrosine phosphatase SHP2 in cardiac development and disease.Semantic proximity Read ↗

New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling.Semantic proximity Read ↗

In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy.Semantic proximity Read ↗

Cardiac sympathetic neurons are additional cells affected in genetically determined arrhythmogenic cardiomyopathySemantic proximity Read ↗

Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling.Semantic proximity Read ↗

Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner.Semantic proximity Read ↗

The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.Semantic proximity Read ↗

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