Keyword Analysis & Research: cystic fibrosis mutation
Keyword Research: People who searched cystic fibrosis mutation also searched
Search Results related to cystic fibrosis mutation on Search Engine
-
Cystic fibrosis - Symptoms and causes - Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700
WEBNov 23, 2021 · In cystic fibrosis, a defect (mutation) in a gene — the cystic fibrosis transmembrane conductance regulator (CFTR) gene — changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat.
DA: 85 PA: 85 MOZ Rank: 12
-
CF Genetics: The Basics | Cystic Fibrosis Foundation
https://www.cff.org/intro-cf/cf-genetics-basics
WEBSummary. Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. In people with CF, mutations in the CFTR gene can disrupt the normal production or functioning of the CFTR protein found in the cells of the lungs and other parts of the body.
DA: 70 PA: 56 MOZ Rank: 82
-
Cystic Fibrosis - Causes | NHLBI, NIH
https://www.nhlbi.nih.gov/health/cystic-fibrosis/causes
WEBNov 21, 2023 · Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Inheriting two mutated genes causes cystic fibrosis. People who inherit one mutated CFTR gene are carriers, who are generally healthy, although they can pass the mutation to their children.
DA: 61 PA: 48 MOZ Rank: 86
-
Types of CFTR Mutations | Cystic Fibrosis Foundation
https://www.cff.org/research-clinical-trials/types-cftr-mutations
WEBThere are five classes of CFTR mutations: protein production, protein processing, gating, conduction, and insufficient protein. The most common CF mutation, F508del, is primarily considered to be a protein processing mutation. CFTR modulators address various problems caused by different types of CFTR mutations.
DA: 48 PA: 16 MOZ Rank: 64
-
Cystic fibrosis - Wikipedia, the free encyclopedia
https://en.wikipedia.org/wiki/Cystic_fibrosis
WEBCystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
DA: 55 PA: 79 MOZ Rank: 99
-
About Cystic Fibrosis - National Human Genome Research Institute
https://www.genome.gov/Genetic-Disorders/Cystic-Fibrosis
WEBDec 27, 2013 · Mutations in a single gene - the Cystic Fibrosis Transmembrane Regulator (CFTR) gene - causes CF. The gene was discovered in 1989. Since then, more than 900 mutations of this single gene have been identified. In normal cells, the CFTR protein acts as a channel that allows cells to release chloride and other ions.
DA: 63 PA: 63 MOZ Rank: 91
-
Cystic Fibrosis | Johns Hopkins Medicine
https://www.hopkinsmedicine.org/health/conditions-and-diseases/cystic-fibrosis
WEBCystic fibrosis (CF) is an inherited life-threatening disease that affects many organs. It causes changes in the electrolyte transport system. People with CF have problems with the glands that make sweat and mucus. CF makes mucus thicker. Symptoms start in childhood. On average, people with CF live into their mid to late 30s.
DA: 9 PA: 15 MOZ Rank: 30
-
Cystic fibrosis: MedlinePlus Genetics
https://medlineplus.gov/genetics/condition/cystic-fibrosis/
WEBCystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. Explore symptoms, inheritance, genetics of this condition.
DA: 42 PA: 28 MOZ Rank: 2
-
Find Out More About Your Mutations - Cystic Fibrosis Foundation
https://www.cff.org/intro-cf/find-out-more-about-your-mutations
WEBCystic fibrosis is a genetic disease that occurs when people inherit two copies of the defective cystic fibrosis transmembrane conductance regulator ( CFTR) gene -- one copy from each parent. The severity of the disease can vary greatly depending on the combination of mutations that someone inherits.
DA: 89 PA: 19 MOZ Rank: 87
-
Cystic Fibrosis - What Is Cystic Fibrosis? | NHLBI, NIH
https://www.nhlbi.nih.gov/health/cystic-fibrosis
WEBNov 21, 2023 · Cystic fibrosis (CF) is a genetic condition that affects a protein in the body. People who have cystic fibrosis have a faulty protein that affects the body’s cells, its tissues, and the glands that make mucus and sweat. Normal mucus is slippery and protects the airways, digestive tract, and other organs and tissues.
DA: 56 PA: 98 MOZ Rank: 87