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

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

American journal of physiology. Heart and circulatory physiology - 1 Oct 2011

Ishida Hidekazu, Kogaki Shigetoyo, Narita Jun, Ichimori Hiroaki, Nawa Nobutoshi, Okada Yoko, Takahashi Kunihiko, Ozono Keiichi

Abstract excerpt

LEOPARD syndrome (LS) is an autosomal dominant inherited multisystemic disorder. Most cases involve mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase Src homology 2-containing protein phosphatase 2 (SHP2). LS frequently causes severe hypertrophic cardiomyopathy (HCM), even from the fetal period. However, the molecular pathogenesis has not been clearly elucidated. Here, we analyzed the...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomegaly
Share to Glycogen Synthase Kinase 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycogen Synthase Kinase 3 beta

Share to LEOPARD Syndrome

Share to Myofibrils

Share to Oncogene Protein v-akt

Share to Phosphoinositide-3 Kinase Inhibitors

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Source

Identifiers

PMID: 21803945
DOI: 10.1152/ajpheart.00216.2011

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling.PMID 21803945Read ↗

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

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

Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.Semantic proximity Read ↗

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

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

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.Semantic proximity Read ↗

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

Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.Semantic proximity Read ↗

Deletion of Ptpn11 (Shp2) in cardiomyocytes causes dilated cardiomyopathy via effects on the extracellular signal-regulated kinase/mitogen-activated protein kinase and RhoA signaling pathways.Semantic proximity Read ↗

Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndromeSemantic proximity Read ↗

LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity.Semantic proximity Read ↗

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

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