hrp0095p1-226 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

FGFR3 gene mutation causes hypochondroplasia via autophagy inhibition

Che Lin , Wu Jinxia , Xu Ren , Chen Jing

Background: Fibroblast growth factor receptor 3 (FGFR3) is a negative regulator of skeletal development. Gain-of-function point mutations in FGFR3 are responsible for hypochondroplasia (HCH), one of the most common forms of dwarfism in humans. Autophagy is an evolutionarily conserved catabolic process, which is indispensable for cell homeostasis maintenance and stress responses. Dysregulation at the level of autophagic activity consequently disturbs the chondr...

hrp0095p1-576 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Relationship between environmental effects and metabolic characteristics of partial and central precocious puberty in girls: Understanding pathogenesis and identifying specific biomarkers

Chen Jing , Wu Jinxia , Huang Rong , Zhu Hongwei , Che Lin , Lin Yanyan , Chang Yajie , Shen Guiping , Feng Jianghua

Background: The differential diagnosis of partial precocious puberty (PPP) and central precocious puberty (CPP) is vital to the prompt intervention and administration, but their specific biomarkers are still unavailable. The potential harmful effects of environmental factors on children's growth and development attract great concern and require urgent investigation.Objective: The metabolic differences and connection...