Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 …

A Mussa, C Leoni, M Iacoviello, D Carli… - Journal of Medical …, 2023 - jmg.bmj.com
Background Postzygotic activating PIK3CA variants cause several phenotypes within the
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …

Circ-ZEB1 promotes PIK3CA expression by silencing miR-199a-3p and affects the proliferation and apoptosis of hepatocellular carcinoma

W Liu, L Zheng, R Zhang, P Hou, J Wang, L Wu, J Li - Molecular Cancer, 2022 - Springer
Background Although the prognostic outcomes of liver cancer (LC) cases have improved
with the advancement in diagnostic technology and treatment methods, the transferability …

When, where and which PIK3CA mutations are pathogenic in congenital disorders

A Angulo-Urarte, M Graupera - Nature Cardiovascular Research, 2022 - nature.com
PIK3CA encodes the class I PI3Kα isoform and is frequently mutated in cancer. Activating
mutations in PIK3CA also cause a range of congenital disorders featuring asymmetric tissue …

PIK3CA hotspot mutations p. H1047R and p. H1047L sensitize breast cancer cells to thymoquinone treatment by regulating the PI3K/Akt1 pathway

J Zhou, S Imani, MD Shasaltaneh, S Liu, T Lu… - Molecular Biology …, 2022 - Springer
Background Nigella sativa (N. sativa) exhibits anti-inflammatory, antioxidant, antidiabetic,
antimetastatic and antinociceptive effects and has been used to treat dozens of diseases …

What's known and what's new in adipose lesions of peripheral nerves?

T Marek, MA Mahan, JM Carter, BM Howe, R Bartos… - Acta …, 2021 - Springer
Background Adipose lesions of nerve primarily include intra-and extraneural lipomas and
lipomatosis of nerve (LN). This paper will summarize the advances that have been made in …

PIK3CA mutation affects the proliferation of colorectal cancer cells through the PI3K-MEK/PDK1-GPT2 pathway

W Chen, G Dai, Y Qian, L Wen, X He… - Oncology …, 2022 - spandidos-publications.com
The phosphatidylinositol‑3‑kinase catalytic subunit α (PIK3CA) gene is mutated in numerous
human cancers. This mutation promotes the proliferation of tumor cells; however, the …

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

H Cui, G Han, B Sun, X Fang, X Dai, S Zhou… - Cell death & …, 2020 - nature.com
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 …

Etiology of carpal tunnel syndrome in a large cohort of children

CT Rüsch, U Knirsch, DM Weber, M Rohrbach… - Children, 2021 - mdpi.com
(1) Background: Carpal tunnel syndrome (CTS), a compressive mononeuropathy of the
median nerve at the wrist, is rare in childhood and occurs most frequently due to secondary …

Whole Exome Sequencing Identifies Somatic Variants in an Oral Composite Hemangioendothelioma Characterized by YAP1-MAML2 Fusion

IG Koutlas, WS Oetting, GM Burns… - Head and Neck …, 2022 - Springer
Composite hemangioendothelioma (CHE) is considered a borderline malignant vascular
tumor defined by an admixture of distinct vascular neoplastic components. A 21-year-old …

PIK3CA mutation testing as a valuable molecular surrogate for lipomatosis of the median nerve: clinicopathological and molecular analysis of six cases

J Osterloh, A Agaimy, F Fried, R Stoehr, R Janka… - Virchows Archiv, 2023 - Springer
Lipomatosis of peripheral nerves (LPN, also known as fibrolipomatous or lipofibromatous
hamartoma of peripheral nerves) is a very rare, benign, intraneural, tumorous lesion that …