PKD1 mutation

Efforts to improve CRISPR-Cas technologies involve optimizing delivery vectors, employing viral and non-viral approaches and minimizing immunogenicity. With research in animal models providing promising results in rescuing the expression of wild-type podocin in mouse models of nephrotic syndrome and successful clinical trials in the early stages of various disorders, including cancer immunotherapy, there is hope for successful translation of genome editing to kidney diseases.

TSC1 and TSC2 code for the proteins harmartin and tuberin, respectively, which form a complex that regulates the mechanistic target of rapamycin complex 1 (mTORC1) and prevents uncontrollable cell growth...These results unequivocally demonstrate the critical role that FOXI1 and A-IC cells, along with H-ATPase, play in TSC kidney cystogenesis. This review article will discuss the latest research into the causes of kidney cystogenesis in TSC with a focus on possible therapeutic options for this devastating disease.

Our study emphasizes the critical significance and necessity of genomic profiling of metastases in guiding precision therapy for TNBC. Moreover, our findings reveal PKD1 as a novel and promising biomarker for immunotherapy.

ALDH1A1 is a novel transcription factor which binds the promoters of specific genes, such as PD-L1, CCL2 and fibrotic genes. Targeting ALDH1A1 with its inhibitor either alone or in combination with nanoparticle-mediated PD-L1 antibody is a novel therapeutic strategy for ADPKD.

Notably, Pkd1 loss caused greater sensitivity to activation of CFTR, a tumor suppressor in CRC, paralleling signaling relations in ADPKD. Overall, these data and other data suggest germline and somatic mutations in PKD1 may influence incidence, presentation, and treatment response in human CRC and other pathologies involving the colon.

Utilizing a NGS renal gene panel testing during kidney transplant evaluation for patients with unclear etiology of kidney disease has a high yield with potential clinical impact on peri-transplant management. For patients with known genetic kidney disease, this might also aid in selection of living related kidney donors.

This study confirms the efficacy and safety of the triplet regimen in immunomodulatory TNBC and reveals the potential of combining CD8, PD-L1 and somatic mutations to guide clinical decision-making and treatments.