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

Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition

10 Aug 2023

Abstract excerpt

Hemifacial myohyperplasia (HFMH) is a rare cause of facial asymmetry exclusively involving facial muscles. The underlying cause and the mechanism of disease progression are unknown. Here, we identified a somatic gain-of-function mutation of PIK3CA in five pediatric patients with HFMH. To understand the physiopathology of muscle hypertrophy in this context, we created a mouse model carrying specifically a PIK3CA...

Read the complete abstract on PubMed

Topics

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

Share to Ear and Head Tumors
Share to Oral and gingival health research
Share to Salivary Gland Tumors Diagnosis and Treatment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37712948
DOI: 10.1084/jem.20230926

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibitionPMID 37712948Read ↗

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.Semantic proximity Read ↗

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.Semantic proximity Read ↗

PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments.Semantic proximity Read ↗

Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition.Semantic proximity Read ↗

A systematic review of the safety and efficacy of currently used treatment modalities in the treatment of patients with PIK3CA-related overgrowth spectrum.Semantic proximity Read ↗

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).Semantic proximity Read ↗

PIK3CA-related overgrowth spectrum: animal model and drug discovery.Semantic proximity Read ↗

PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With AlpelisibSemantic proximity Read ↗

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.Semantic proximity Read ↗

PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption.Semantic proximity Read ↗

Updates on Diagnosis and Treatment of PIK3CA-Related Overgrowth Spectrum.Semantic proximity Read ↗

PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effectSemantic proximity Read ↗

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