Genes and longevity of lifespan
Aging is a complex process indicated by low energy levels, declined physiological activity,
stress induced loss of homeostasis leading to the risk of diseases and mortality. Recent …
stress induced loss of homeostasis leading to the risk of diseases and mortality. Recent …
PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments
GM Morin, L Zerbib, S Kaltenbach… - Annual Review of …, 2024 - annualreviews.org
Recent advances in genetic sequencing are transforming our approach to rare-disease
care. Initially identified in cancer, gain-of-function mutations of the PIK3CA gene are also …
care. Initially identified in cancer, gain-of-function mutations of the PIK3CA gene are also …
Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings
MP Bonasoni, G Comitini, M Pati, V Bizzarri… - Fetal and Pediatric …, 2023 - Taylor & Francis
Background: SOX2 disorders are associated with anophthalmia-esophageal-genital
syndrome or microphthalmia, syndromic 3 (MCOPS3-# 206900). Case Report: We describe …
syndrome or microphthalmia, syndromic 3 (MCOPS3-# 206900). Case Report: We describe …
Updates on diagnosis and treatment of PIK3CA-related overgrowth spectrum
H Chen, W Gao, H Liu, B Sun, C Hua… - Annals of Plastic …, 2023 - journals.lww.com
Hyperactivation of the PI3K/AKT/mTOR signaling pathway caused by PIK3CA mutations is
associated with a category of overgrowth syndromes that are defined as PIK3CA-related …
associated with a category of overgrowth syndromes that are defined as PIK3CA-related …