BIOMAT Database Logo BIOMAT Database Logo

Cystic fibrosis: How do CFTR mutations cause cystic fibrosis? 1995

J J Wine
Cystic Fibrosis Research Laboratory, Stanford University, California 94305-2130, USA.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D003550 Cystic Fibrosis An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D004848 Epithelium The layers of EPITHELIAL CELLS which cover the inner and outer surfaces of the cutaneous, mucus, and serous tissues and glands of the body. Mesothelium,Epithelial Tissue,Mesothelial Tissue,Epithelial Tissues,Mesothelial Tissues,Tissue, Epithelial,Tissue, Mesothelial,Tissues, Epithelial,Tissues, Mesothelial
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D015222 Sodium Channels Ion channels that specifically allow the passage of SODIUM ions. A variety of specific sodium channel subtypes are involved in serving specialized functions such as neuronal signaling, CARDIAC MUSCLE contraction, and KIDNEY function. Ion Channels, Sodium,Ion Channel, Sodium,Sodium Channel,Sodium Ion Channels,Channel, Sodium,Channel, Sodium Ion,Channels, Sodium,Channels, Sodium Ion,Sodium Ion Channel
D018118 Chloride Channels Cell membrane glycoproteins that form channels to selectively pass chloride ions. Nonselective blockers include FENAMATES; ETHACRYNIC ACID; and TAMOXIFEN. CaCC,Calcium-Activated Chloride Channel,Chloride Ion Channel,Chlorine Channel,Ion Channels, Chloride,CaCCs,Calcium-Activated Chloride Channels,Chloride Channel,Chloride Ion Channels,Chlorine Channels,Ion Channel, Chloride,Calcium Activated Chloride Channel,Calcium Activated Chloride Channels,Channel, Calcium-Activated Chloride,Channel, Chloride,Channel, Chloride Ion,Channel, Chlorine,Channels, Calcium-Activated Chloride,Channels, Chloride,Channels, Chloride Ion,Channels, Chlorine,Chloride Channel, Calcium-Activated,Chloride Channels, Calcium-Activated
D019005 Cystic Fibrosis Transmembrane Conductance Regulator A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8) CFTR Protein,Chloride channels, ATP-gated CFTR,Chloride channels, ATP gated CFTR,Protein, CFTR

Related Publications

J J Wine
CFTR mutations and cystic fibrosis.
October 2013, Prescrire international,
J J Wine
CFTR mutations in Chilean cystic fibrosis patients.
September 1994, Human genetics,
J J Wine
Novel CFTR mutations in black cystic fibrosis patients.
April 2004, Clinical genetics,
J J Wine
Targeting CFTR: how to treat cystic fibrosis by CFTR-repairing therapies.
May 2011, Current drug targets,
J J Wine
Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal models.
July 2014, The international journal of biochemistry & cell biology,
J J Wine
Spectrum of CFTR mutations in Argentine cystic fibrosis patients.
January 1997, Clinical genetics,
J J Wine
How do cystic fibrosis transmembrane conductance regulator mutations produce lung disease?
November 1995, Current opinion in pulmonary medicine,
J J Wine
Understanding how cystic fibrosis mutations cause a loss of Cl- channel function.
July 1996, Molecular medicine today,
J J Wine
Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients.
May 2003, Journal of the Formosan Medical Association = Taiwan yi zhi,
J J Wine
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
August 2002, The New England journal of medicine,
Copied contents to your clipboard!