Tag: MECP2
Acadia Pharma (ACAD) Announces Nature Medicine Publishes Results from Pivotal Phase 3 LAVENDER Study Evaluating DAYBUE in Patients with Rett Syndrome
Study results provided basis for first FDA-approved treatment for Rett syndrome Acadia Pharmaceuticals Inc. (Nasdaq: ACAD) today announced that Nature Medicine published results from the pivotal Phase 3 LAVENDER™ trial, a 12-week randomized, double-blind, placebo-controlled study evaluating the efficacy and safety of DAYBUE™ in patients with Rett syndrome five to…
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Ethics The Australian Genomics Acute Care study has Human Research Ethics Committee approval (HREC/16/MH/251). Parents provided informed consent for participation in the study, following genetic counseling. Study design and participants The Acute Care Genomics program is a national multi-site study delivering ultra-rapid genomic testing to critically ill pediatric patients with…
Acadia Pharma Announces Nature Medicine Publishes Results from Pivotal Phase 3 LAVENDER Study Evaluating DAYBUE in Patients with Rett Syndrome
Study results provided basis for first FDA-approved treatment for Rett syndrome Acadia Pharmaceuticals Inc. (Nasdaq: ACAD) today announced that Nature Medicine published results from the pivotal Phase 3 LAVENDER™ trial, a 12-week randomized, double-blind, placebo-controlled study evaluating the efficacy and safety of DAYBUE™ in patients with Rett syndrome five to…
Integrated analysis of circRNA-associated ceRNA in ischemic stroke
1 Introduction Stroke is the leading cause of permanent disability (Diener and Hankey, 2020). The latest global burden of disease (GBD) study (GBD 2019 Diseases and Injuries Collaborators, 2020) indicated that stroke is the leading cause of death in the Chinese population. The overall lifetime risk of stroke in China…
Multi-faceted CRISPR/Cas technological innovation aspects in the framework of 3P medicine
Golubnitschaja O, Baban B, Boniolo G, Wang W, Bubnov R, Kapalla M, et al. Medicine in the early twenty-first century: paradigm and anticipation – EPMA position paper 2016. EPMA J. 2016;7:23. Article PubMed PubMed Central Google Scholar Kropp M, Golubnitschaja O, Mazurakova A, Koklesova L, Sargheini N, Vo T-TKS, et…
HuidaGene Therapeutics Announces Release of World’s First…
2 19.05.2023 – 04:50 Huidagene Therapeutics SHANGHAI and CLINTON, NJ, April 20 /PRNewswire/ HuidaGene Therapeutics (辉大基因; HuidaGene), a clinical-stage genome editing company, announced today that in the online journal National Science Review published comprehensive data from a study on the world‘s first G-to-Y converting DNA base editor, the glycosylase-based guanine…
Bioinformatics-Based Identification of CircRNA-MicroRNA-mRNA Network for Calcific Aortic Valve Disease
Background. Calcific aortic valve disease (CAVD) is the most common native valve disease. Valvular interstitial cell (VIC) osteogenic differentiation and valvular endothelial cell (VEC) dysfunction are key steps in CAVD progression. Circular RNA (circRNAs) is involved in regulating osteogenic differentiation with mesenchymal cells and is associated with multiple disease progression,…
HuidaGene Therapeutics Announces Publication of the World’s First Guanine Base-Editor
SHANGHAI and CLINTON, N.J., May 18, 2023 /PRNewswire/ — HuidaGene Therapeutics (辉大基因; HuidaGene), a clinical-stage genome-editing company, today announced the online National Science Review published the comprehensive data from a study of the world’s first DNA base editor converting G-to-Y, glycosylase-based guanine base editor (gGBE). Company has filed an international…
HuidaGene Therapeutics Novel Cas12i DNA Gene Editing System Has Been Patented by…
17.05.2023 – 14:17 Huidagene Therapeutics SHANGHAI and CLINTON, NJ, April 20 /PRNewswire/ HuidaGene Therapeutics (辉大基因; HuidaGene), a clinical-stage company focused on the development of gene editing tools and gene therapies, announced today that the United States Patent and Trademark Office (USPTO) has granted the Company has granted patent US11,649,444B1 for…
HuidaGene Therapeutics’ Novel DNA Gene-Editing System Cas12i Patent Granted by USPTO
SHANGHAI and CLINTON, N.J., May 16, 2023 /PRNewswire/ — HuidaGene Therapeutics (辉大基因; HuidaGene), a clinical-stage company focusing on developing gene editing tools and gene therapies, today announced that the United States Patent and Trademark Office (USPTO) has granted to the Company patent US11,649,444B1 with respect to its independently-developed DNA editing system,…
Cellular ‘cruise control’ system safeguards RNA levels in Rett syndrome nerve cells
Cis-acting elements in the 3ʹUTR are highly associated with half-life changes. a Random forest classifier for prediction of mRNA sequence features relevant for half-life fold-change in human NEURTT and in cortical brain samples of the mouse Mecp2 y/-. Percent accuracy (Y-axis) of half-life fold-change predictions in human NEURTT (b) from…
The genome-wide mutational consequences of DNA hypomethylation
Goldberg, A. D., Allis, C. D. & Bernstein, E. Epigenetics: A landscape takes shape. Cell 128, 635–638 (2007). Article PubMed Google Scholar Mohn, F. & Schübeler, D. Genetics and epigenetics: Stability and plasticity during cellular differentiation. Trends Genet. 25, 129–136 (2009). Article PubMed Google Scholar Takahashi, K. et al. Induction…
Alternative CDC20 translational isoforms tune mitotic arrest duration
Musacchio, A. The molecular biology of spindle assembly checkpoint signaling dynamics. Curr. Biol. 25, R1002–R1018 (2015). Article CAS PubMed Google Scholar Lara-Gonzalez, P., Pines, J. & Desai, A. Spindle assembly checkpoint activation and silencing at kinetochores. Semin. Cell Dev. Biol. 117, 86–98 (2021). Article CAS PubMed PubMed Central Google Scholar …
Epigenetic and epitranscriptomic regulation of axon regeneration
Goldberg JL, Klassen MP, Hua Y, Barres BA. Amacrine-signaled loss of intrinsic axon growth ability by retinal ganglion cells. Science. 2002;296:1860–4. Article CAS PubMed Google Scholar Blackmore M, Letourneau PC. Changes within maturing neurons limit axonal regeneration in the developing spinal cord. J Neurobiol. 2006;66:348–60. Article CAS PubMed Google Scholar …
The molecular pathology of schizophrenia: an overview of existing knowledge and new directions for future research
Jones HB. Pathology. In: Wexler P. (eds). Information resources in toxicology (Fourth Edition). Academic Press: San Diego, 2009, pp 357–63. Griesinger W. Die Pathologie und therapie der psychischen krankheiten. (Krabbe:Stuttgart, 1861). Kraepelin E. Psychiatrie: ein Lehrbuch für Studierende und Aerzte. (Verlag von Johann Ambrosius Barth:Leipzig, 1899). Jauhar S, Johnstone M,…
Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population | BMC Psychiatry
WHO. Autism spectrum disorders and other developmental disorders: From raising awareness to building capacity. Geneva: World Health Organization; 2013. Google Scholar Sahin M, Sur M. Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders. Science. 2015;350:6263. Kim JY, Son MJ, Son CY, Radua J, Eisenhut M, Gressier F,…
AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice
Wang, D., Tai, P. W. L. & Gao, G. Adeno-associated virus vector as a platform for gene therapy delivery. Nat. Rev. Drug Discov. 18, 358–378 (2019). CAS PubMed PubMed Central Google Scholar Li, C. & Samulski, R. J. Engineering adeno-associated virus vectors for gene therapy. Nat. Rev. Genet. 21, 255–272…
In Rett Models, Regulatory RNAs Appear To Be Altered
Regulatory RNAs involved in nerve cell signaling and structure were altered in cell and mouse models of Rett syndrome, with these changes also evident in tissue from deceased patients, a study reported. These findings aid in understanding the biological processes impaired in Rett and may reveal potential biomarkers to help…
Environmental Factor – September 2021: Intramural Papers of the Month
IntramuralBy Nicholas Alagna, Kelley Christensen, Mimi Huang, Janelle Weaver, and Qing Xu DNTP develops whole-genome sequencing of cell-free DNA in blood Researchers from the Division of the National Toxicology Program have developed a protocol for whole-genome sequencing of low quantities of circulating cell-free DNA. Small amounts of DNA are typically…
