Pentalogy of Cantrell — Mutations in Genes Associated With Pentalogy of Cantrell
Citation(s)
Ma X, Adelstein RS A point mutation in Myh10 causes major defects in heart development and body wall closure. Circ Cardiovasc Genet. 2014 Jun;7(3):257-65. doi: 10.1161/CIRCGENETICS.113.000455. Epub 2014 May 13. Erratum in: Circ Cardiovasc Genet. 2014 Aug;7(4):570.
Ma X, Adelstein RS In vivo studies on nonmuscle myosin II expression and function in heart development. Front Biosci (Landmark Ed). 2012 Jan 1;17:545-55. Review.
Ma X, Adelstein RS The role of vertebrate nonmuscle Myosin II in development and human disease. Bioarchitecture. 2014;4(3):88-102. doi: 10.4161/bioa.29766. Epub 2014 Aug 6. Review.
Mutations in Genes Associated With Pentalogy of Cantrell
Interventional studies are often prospective and are specifically tailored to evaluate direct impacts of treatment or preventive measures on disease.
Observational studies are often retrospective and are used to assess potential causation in exposure-outcome relationships and therefore influence preventive methods.
Expanded access is a means by which manufacturers make investigational new drugs available, under certain circumstances, to treat a patient(s) with a serious disease or condition who cannot participate in a controlled clinical trial.
Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.
Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.
