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Expanding Cystic Fibrosis Registries to the Rest of the World. [PDF]
Pediatr PulmonolNaehrlich L.
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Cystic Fibrosis in the Era of Precision Medicine: Transformative Progress and Persistent Challenges. [PDF]
J Clin MedGur M, Bentur L.
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Nature Reviews Disease Primers
Cystic fibrosis is a rare genetic disease caused by mutations in CFTR, the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). The discovery of CFTR in 1989 has enabled the unravelling of disease mechanisms and, more recently, the development of CFTR-directed therapeutics that target the underlying molecular defect.
Marcus A Mall +2 more
exaly +5 more sources
Cystic fibrosis is a rare genetic disease caused by mutations in CFTR, the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR). The discovery of CFTR in 1989 has enabled the unravelling of disease mechanisms and, more recently, the development of CFTR-directed therapeutics that target the underlying molecular defect.
Marcus A Mall +2 more
exaly +5 more sources
Seminars in Respiratory and Critical Care Medicine, 2023
Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by variants in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CFTR dysfunction results in abnormal chloride and bicarbonate transport in epithelial cells, leading to a multiorgan disease dominated by respiratory and digestive ...
Siobhain, Mulrennan, Andrew M, Jones
+7 more sources
Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by variants in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CFTR dysfunction results in abnormal chloride and bicarbonate transport in epithelial cells, leading to a multiorgan disease dominated by respiratory and digestive ...
Siobhain, Mulrennan, Andrew M, Jones
+7 more sources
Pathology Patterns Reviews, 2003
On a daily basis, pathologists examine the fundamental basis of human diseases using morphologic, immunologic, and molecular techniques. Cystic fibrosis (CF), as a clinically heterogeneous disease, exemplifies the complex challenges of genetic diseases for the pathologist who attempts to explain the mechanisms of disease and provide rationale for ...
Myra J, Lewis +3 more
openaire +4 more sources
On a daily basis, pathologists examine the fundamental basis of human diseases using morphologic, immunologic, and molecular techniques. Cystic fibrosis (CF), as a clinically heterogeneous disease, exemplifies the complex challenges of genetic diseases for the pathologist who attempts to explain the mechanisms of disease and provide rationale for ...
Myra J, Lewis +3 more
openaire +4 more sources
Pediatrics In Review, 2021
Cystic fibrosis (CF) is one of the most commonly diagnosed genetic disorders. Clinical characteristics include progressive obstructive lung disease, sinusitis, exocrine pancreatic insufficiency leading to malabsorption and malnutrition, liver and pancreatic dysfunction, and male infertility.
Kimberly M, Dickinson, Joseph M, Collaco
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Cystic fibrosis (CF) is one of the most commonly diagnosed genetic disorders. Clinical characteristics include progressive obstructive lung disease, sinusitis, exocrine pancreatic insufficiency leading to malabsorption and malnutrition, liver and pancreatic dysfunction, and male infertility.
Kimberly M, Dickinson, Joseph M, Collaco
openaire +5 more sources