FGFR4 p.Gly388Arg polymorphism in PBMCs of LAM patients: findings of a pilot study

Lymphangioleiomyomatosis (LAM) is a rare, progressive lung disease characterized by neoplastic-like proliferation of abnormal smooth muscle–like cells, primarily driven by mutations in the TSC2 gene. These mutations result in hyperactivation of the mTOR signaling pathway, leading to uncontrolled cel...

Descrición completa

Detalles Bibliográficos

Principais autores:	Sinem Koc-Gunel, Amy L. Ryan, Melanie Winter, Thomas O. F. Wagner
Formato:	Artigo
Idioma:	Inglês
Publicado:	Frontiers Media S.A. 2025-07-01
Series:	Frontiers in Medicine
Assuntos:	lymphangioleiomyomatosis (LAM) FGFR4 p.Gly388Arg polymorphism peripheral blood mononuclear cells (PBMCs) forced expiratory volume (FEV₁%) next-generation sequencing (NGS) mTOR signaling pathway
Acceso en liña:	https://www.frontiersin.org/articles/10.3389/fmed.2025.1544910/full
Tags:	Engadir etiqueta Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!