Results 241 to 250 of about 486,806 (280)
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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
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 L 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 L Taylor-Cousar
exaly +5 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
Lung, 1994
While the care of cystic fibrosis (CF) patients has been mainly the province of pediatricians, great improvements in the therapy and life span of CF patients often results in their transition to care by adult physicians. In this review of CF, we begin with an overview of the epidemiology and genetics of the disease, with a discussion of the recently ...
M R, Bye, J M, Ewig, L M, Quittell
openaire +2 more sources
While the care of cystic fibrosis (CF) patients has been mainly the province of pediatricians, great improvements in the therapy and life span of CF patients often results in their transition to care by adult physicians. In this review of CF, we begin with an overview of the epidemiology and genetics of the disease, with a discussion of the recently ...
M R, Bye, J M, Ewig, L M, Quittell
openaire +2 more sources
Current Problems in Pediatrics, 1991
The past few years have seen amazing progress in our understanding of the underlying cellular and molecular bases of CF. This new understanding has raised hopes for improved treatments in the very near future. These new treatments are expected to improve even further the prognosis for survival in this disorder, which has improved nearly 1 year for ...
openaire +2 more sources
The past few years have seen amazing progress in our understanding of the underlying cellular and molecular bases of CF. This new understanding has raised hopes for improved treatments in the very near future. These new treatments are expected to improve even further the prognosis for survival in this disorder, which has improved nearly 1 year for ...
openaire +2 more sources
Pediatrics In Review, 2009
Cystic fibrosis is the most common lethal genetic disease in white populations. The outlook for patients with the disease has improved steadily over many years, largely as a result of earlier diagnosis, more aggressive therapy, and provision of care in specialised centres.
Gregory S, Montgomery +1 more
openaire +5 more sources
Cystic fibrosis is the most common lethal genetic disease in white populations. The outlook for patients with the disease has improved steadily over many years, largely as a result of earlier diagnosis, more aggressive therapy, and provision of care in specialised centres.
Gregory S, Montgomery +1 more
openaire +5 more sources
Clinics in Chest Medicine, 2016
Cystic fibrosis is a common life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America, and Australia. The disease is caused by mutation of a gene that encodes a chloride-conducting transmembrane channel called the cystic fibrosis transmembrane conductance regulator (CFTR), which regulates anion transport and ...
+7 more sources
Cystic fibrosis is a common life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America, and Australia. The disease is caused by mutation of a gene that encodes a chloride-conducting transmembrane channel called the cystic fibrosis transmembrane conductance regulator (CFTR), which regulates anion transport and ...
+7 more sources
Clinics in Perinatology, 2001
Although mutation detection rates have not universally reached the 95% detection level recommended by the American Society of Human Genetics and are not likely to exceed 90% for many populations in the foreseeable future, CF carrier screening will probably be offered routinely in the near future.
L P, Shulman, S, Elias
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Although mutation detection rates have not universally reached the 95% detection level recommended by the American Society of Human Genetics and are not likely to exceed 90% for many populations in the foreseeable future, CF carrier screening will probably be offered routinely in the near future.
L P, Shulman, S, Elias
openaire +2 more sources
Current Opinion in Infectious Diseases, 2002
Cystic fibrosis is the most common lethal inherited disorder with autosomal recessive inheritance. Major progress has been made in understanding the molecular mechanisms leading to increased susceptibility to Pseudomonas aeruginosa colonization. Persistent respiratory infection with P.
Amanda L, Brennan, Duncan M, Geddes
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Cystic fibrosis is the most common lethal inherited disorder with autosomal recessive inheritance. Major progress has been made in understanding the molecular mechanisms leading to increased susceptibility to Pseudomonas aeruginosa colonization. Persistent respiratory infection with P.
Amanda L, Brennan, Duncan M, Geddes
openaire +2 more sources