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

Activating PIK3CA mutation promotes osteogenesis of bone marrow mesenchymal stem cells in macrodactyly.

Cell death & disease - 6 Jul 2020

Cui Hengqing, Han Gang, Sun Bin, Fang Xia, Dai Xinyi, Zhou Shengbo, Mao Hailei, Wang Bin

Abstract excerpt

Macrodactyly is a disabling congenital disease characterized by overgrowth of soft tissues and bones, which leads to finger enlargement and joint deformity. The mechanism of bone overgrowth in macrodactyly was rarely understood. In our study bone manifestations of three macrodactyly patients were analyzed by micro-CT. PIK3CA mutation was detected by next-generation sequencing (NGS) of a tumor gene-panel. The...

Read the complete abstract on PubMed

Topics

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

Share to Cell Shape
Share to Class I Phosphatidylinositol 3-Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fingers

Share to Limb Deformities, Congenital

Share to Mesenchymal Stem Cells

Share to Osteoblasts

Share to Osteogenesis

Share to Thiazoles

Source

Open in PubMed Open full text

Identifiers

PMID: 32632138
DOI: 10.1038/s41419-020-2723-6
PMCID: PMC7338441

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Activating PIK3CA mutation promotes osteogenesis of bone marrow mesenchymal stem cells in macrodactyly.PMID 32632138Read ↗

Activating PIK3CA mutation promotes adipogenesis of adipose-derived stem cells in macrodactyly via up-regulation of E2F1.Semantic proximity Read ↗

Insights into the pathogenesis of macrodactyly.Semantic proximity Read ↗

Altered Adipose-Derived Stem Cell Characteristics in Macrodactyly.Semantic proximity Read ↗

Activating PIK3CA mutations in adipose-derived stem cells drive mutant-like phenotypes of wild-type cells in macrodactylySemantic proximity Read ↗

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.Semantic proximity Read ↗

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variantsSemantic proximity Read ↗

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.Semantic proximity Read ↗

[Clinical characteristics of 170 cases of macrodactyly].Semantic proximity Read ↗

Characterization of coordinated growth in macrodactyly caused by somatic mosaic activating mutations in<i>PIK3CA</i>Semantic proximity Read ↗

Activating PIK3CA Mutations of Adipose-derived Stem Cells Drive Mutant-like Phenotypes of Wild-type Cells in MacrodactylySemantic proximity Read ↗

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delaySemantic proximity Read ↗

Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.Semantic proximity Read ↗

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