Just published! ACMG SF v3.3 list for reporting of secondary findings in clinical #exome and #genome #sequencing. This 2025 update adds 3 genes - ABCD1, CYP27A1, and PLN - to the recommended minimum gene list with a description of the factors considered. #genetics bit.ly/40jQv3C

The study identified 11 key genes, with HMGCR and CYP27A1 being crucial. HMGCR may aid diagnosis, while CYP27A1 could indicate severity. Abnormal immune cell behavior might affect fertility in endometriosis.

Study finds genes HMGCR & CYP27A1 linked to endometriosis diagnosis & severity. Immune cell behavior may affect fertility. - Hexplain AI summary from Medicine

New research shows NPC1L1 contributes to osteoporosis by activating the C/EBPα–Cyp27a1–27-OHC pathway. Knockdown of NPC1L1 improved bone formation and reversed bone loss in mice. 🦴
Read the full study in #FASEBBioAdvances: buff.ly/Ezh7UTx
#Osteoporosis #NPC1L1 #BoneResearch

Next, we explored how is LXR activated endogenously. Revisiting our #transcriptomics datasets from damage-repair models, we uncovered a key player: #CYP27A1, a cholesterol-metabolizing enzyme. It’s induced by damage and acts upstream of LXR – a critical piece of the puzzle!

Otro gran hallazgo: El gen CYP27A1 es el que enciende esta maquinaria. En casos de daño intestinal, este gen se activa y produce los "combustibles" que necesita LXR para reparar el tejido. Es como si tu intestino tiene su propio kit de emergencia!

27-hydroxylation of oncosterone by CYP27A1 switches its activity from pro-tumor to anti-tumor https://www.biorxiv.org/content/10.1101/2023.10.10.560948v1

27-hydroxylation of oncosterone by CYP27A1 switches its activity from pro-tumor to anti-tumor https://www.biorxiv.org/content/10.1101/2023.10.10.560948v1