Cftr - Study guides, Class notes & Summaries

Genetic Counseling Boards Practice Exam well analyzed A 30-year-old woman comes for genetic counseling to discuss her recent presymptomatic testing for Huntington disease (HD), which was negative. Her mother was diagnosed with HD at age 36, and her deceased maternal grandmother was diagnosed with HD at age 40. Neither had DNA testing. Which of the following is the MOST important next step to discuss with the woman? A. Confirmatory DNA testing of her mother is needed. B. Her mother and g...

What are the main organs affected by cystic fibrosis? - Answer Lungs, any organ that has epithelial cells, mucus, and secretory system which requires regulation of that mucus Describe the main function of the CFTR protein and how it is regulated. - Answer responsible for regulating the proper flow of chloride and sodium (a component of salt) in and out of the cell membranes in the lungs and other organs. It is regulated by its cytosolic domains: two nucleotide binding domains (NBDs) and a...

What are the main organs affected by cystic fibrosis? - Answer Lungs, any organ that has epithelial cells, mucus, and secretory system which requires regulation of that mucus Describe the main function of the CFTR protein and how it is regulated. - Answer responsible for regulating the proper flow of chloride and sodium (a component of salt) in and out of the cell membranes in the lungs and other organs. It is regulated by its cytosolic domains: two nucleotide binding domains (NBDs) and a...

NCLEX-RN Practice Quiz Test Bank #10 (75 Questions) 1. 1. Question The nurse should visit which of the following clients first? o A. The client with diabetes with a blood glucose of 95mg/dL o B. The client with hypertension being maintained on Lisinopril o C. The client with chest pain and a history of angina o D. The client with Raynaud’s disease Incorrect Correct Answer: C. The client with chest pain and a history of angina The client with chest pain should be seen first because this could i...

Familial Hypercholesterolemia (FH) is caused by defects in the expression and/or function of the LDL receptor, which binds and removes LDL from the circulation. Defect means that liver cannot process cholesterol -coronary artery disease, deposits of cholesterol under the skin -autosomal dominant cystic fibrosis (CF) Defect in CFTR gene which codes for protein that acts as a chloride channel and regulates flow of ions across epithelial cells -malabsorption, failure to thrive, Pancreatitis, cirrh...

ATI-TEAS Practice Tests Nov 2022. aka the windpipe - is a cylindrical portion of the respiratory tract that joins the larynx with the lungs connects the throat to the stomach - when someone swallows, this contracts to force the food down into the stomach - like other structures in the respiratory system, this structure secretes mucus for lubrication (1) Identify the tissue(s) that is/are striated (2) Identify the tissue(s) that is/are NOT striated a) cardiac b) smooth c) skel...

NR 507 Advanced Pathophysiology Exam Questions With Correct Answers Latest Updated 2024 (VERIFIED) Cystic Fibrosis s/s bad smelling and greasy stools r/t poor digestion of fats, coughing and wheezing, growth delays, frequent respiratory infections, salty-tasting skin. Why not Does not get less severe with age, AAs may experience less severe s/s but outcome and mortality are same as Caucasians autosomal recessive disorder and less common in AAs due to genetic makeup – s/s usually occur...

What are the main organs affected by cystic fibrosis? - Lungs, any organ that has epithelial cells, mucus, and secretory system which requires regulation of that mucus Describe the main function of the CFTR protein and how it is regulated. - responsible for regulating the proper flow of chloride and sodium (a component of salt) in and out of the cell membranes in the lungs and other organs. It is regulated by its cytosolic domains: two nucleotide binding domains (NBDs) and a regulatory (R) ...

Biology A Primavera Unit 3 exam rated A What are some functions of a cell membrane? Select all that apply. The cell membrane allows some materials to enter the cell while blocking others. The cell membrane allows waste materials to exit the cell. Which statements describe the structure of cell membranes? Select all that apply. A phospholipid bilayer forms the semipermeable cell membrane. Proteins, lipids, and carbohydrates are found in and on the cell membrane. Which membrane component is a...

Cystic fibrosis is a chronic genetic disease that affects the exocrine glands that secrete mucus. Mucus blockage prevents pancreatic enzymes from breaking down and unable to absorb food and nutrients, leading to malnutrition in most patients. It is caused by a defect in the CTFR gene. The CFTR gene is a protein that functions as a chloride channel and is found on the apical surface of many hollow tissues notably the lungs, pancreas, gastrointestinal tract and sweat glands. Mutations in CFTR ...