ANO5 (Anoctamin 5)

This study provides a comprehensive spatial transcriptomic atlas of the hypertensive brain, uncovering multidimensional molecular mechanisms underlying CNS-mediated blood pressure regulation. These results advance our understanding of neurogenic hypertension and may inform future diagnostic and therapeutic strategies.

P=N/A, N=116, Completed, Virginia Commonwealth University | Active, not recruiting --> Completed | N=80 --> 116

In addition, the endoplasmic reticulum stress (ERS) response was significantly enhanced in Ano5-/- osteoclasts, possibly because of calcium dyshomeostasis, which leading to the increased proportion of apoptotic osteoclasts via the activation of the C/EBP homologous protein (CHOP) signalling pathway, accompanied by abnormal changes in the expression of apoptosis-related factors. In summary, Ano5 deficiency impairs the function of osteoclasts by increasing osteoclast apoptosis, which is induced by an overactivated ERS response via calcium dyshomeostasis.

Next, studies of disease-modifying or potential disease-modifying therapies for inherited myopathies are addressed including the encouraging follow-up study of gene replacement therapy for Duchenne muscular dystrophy (DMD), a negative trial of tamoxifen in DMD, and the complex topic of gene therapy for X-linked myotubular myopathy...Other papers regarding GNE myopathy and long-term outcome of enzyme replacement therapy in infantile onset Pompe disease round out that section. Updates on the expanding spectra of anoctamin-5 myopathies, caveolinopathies, and congenital and mylagic myopathies from CACNA1S mutations follow as well as extensive discussion of Valosin containing protein proteinopathies, comprehensive management of Becker muscular dystrophy, and gastrointestinal complications in adult DMD.

P=N/A, N=80, Active, not recruiting, Virginia Commonwealth University | Recruiting --> Active, not recruiting

P=N/A, N=80, Recruiting, Virginia Commonwealth University | Trial completion date: Jun 2024 --> Jun 2025 | Trial primary completion date: Jun 2024 --> Jun 2025

P=N/A, N=200, Recruiting, Rigshospitalet, Denmark | Trial completion date: Aug 2024 --> Aug 2025 | Trial primary completion date: Feb 2024 --> Feb 2025

P=N/A, N=17, Active, not recruiting, Rigshospitalet, Denmark | Trial completion date: Nov 2023 --> Nov 2025

Our findings indicate that FGC may be an atypical variant of GDD, providing evidence for the feasibility of ANO5 gene testing as an auxiliary diagnostic method for complex cases with multiple quadrants.

ANO5 regulates the cell cycle progression by regulating the expression of cyclin-associated genes and affects the prognosis of patients with GC. These results may provide insights into the role of ANO5 as a key mediator in tumor progression and/or promising prognostic biomarker for GC.