ABCC6 (ATP Binding Cassette Subfamily C Member 6)

As the inaugural germline genomic investigation of MaBC in a Han Chinese population, this work reveals clinically actionable alterations with diagnostic and therapeutic implications. These discoveries not only advance our understanding of MaBC's molecular architecture but also underscore the critical need for dedicated research into this malignancy.

P=N/A, N=45, Not yet recruiting, Centre Hospitalier Universitaire de Nice

Further analysis showed that ABCC6 knockdown affected autophagy-related markers, and inhibition of autophagy using bafilomycin A1 (BafA1) and chloroquine (CQ) reversed cisplatin resistance. Targeting autophagy may offer a potential strategy to overcome chemoresistance in BLCA. Future research should focus on validating these findings in clinical samples and exploring ABCC6 inhibitors or autophagy modulators as therapeutic options.

Oral mucositis risk and severity in a pediatric population being treated for OS with HDMTX, doxorubicin, and cisplatin were associated with genes in the ABC family (ABCA3, ABCC2, and ABCC6 genes).

However, we found reduced relapse-free survival correlating with reduced RNA expression in select ABC transporters in 4929 breast cancer patients in a KMplot analysis. These findings highlight the potential role of ABC transporters in prostate and breast cancer prognosis and warrant further investigation into their therapeutic implications.

Management of CNV in PXE involves the prompt use of intravitreal anti-VEGF injections and vitrectomy with tissue plasminogen activator (tPA) for controlling CNV activity and submacular hemorrhage. Ophthalmologists should consider PXE in patients presenting with characteristic skin and eye findings and refer them for dermatological evaluation as necessary.

P1/2, N=10, Completed, Inozyme Pharma | Trial primary completion date: Nov 2024 --> Jul 2024 | Active, not recruiting --> Completed | Trial completion date: Dec 2024 --> Jul 2024

SIGNIFICANCE STATEMENT: This study quantified the expression of key placental transporters in human placenta and various placental cell lines, revealing significant expression variations. By integrating these data with physiologically based pharmacokinetic modeling, the study highlights the importance of transporter abundance data in understanding and predicting placental drug disposition, essential for maternal and fetal health during pregnancy.

TYK2 inhibition by deucravacitinib, a selective, allosteric oral immunosuppressant used in psoriasis treatment, not only blunted the effects of LIF, but also interfered with the pro-calcific effects induced by phosphate...Thus, our observations indicate a role for LIF in CKD-associated vascular calcification. Hence, the effects of LIF identify a central pro-calcific role of TYK2 signaling, which may be a future target to reduce the burden of vascular calcification in CKD.

P1/2, N=10, Active, not recruiting, Inozyme Pharma | Trial completion date: Dec 2023 --> Dec 2024 | Trial primary completion date: Nov 2023 --> Nov 2024

Our results shed light on the prominent role of rare CNVs in determining common disease susceptibility within the general population and provide actionable insights for anticipating later-onset comorbidities in carriers of recurrent CNVs.

LINC01671 may be a novel prognostic marker with important therapeutic value for KIRC.