Results 201 to 210 of about 156,262 (248)
Psychological impact of genetic eligibility for CFTR modulator therapy in children with cystic fibrosis and their parents. [PDF]
Eur J PediatrOztosun B +9 more
europepmc +1 more source
Disparities in Access to Cystic Fibrosis Therapy Across Countries. [PDF]
Pediatr PulmonolKaradag B.
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Alveolar macrophage subtypes express cholesterol and inflammation genes in cystic fibrosis. [PDF]
Life Sci AllianceLi X +6 more
europepmc +1 more source
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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 Mall, Jennifer Taylor-Cousar
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 Mall, Jennifer Taylor-Cousar
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
openaire +5 more sources
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