CYSTIC FIBROSIS PHENOTYPES IN ADULT PATIENTS CARRYING 3849+10KB C>T MUTATION
نویسندگان
چکیده
منابع مشابه
Molecular screening of R117H mutation in non caucasian cystic fibrosis patients in the north of Iran
Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...
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Cystic fibrosis (CF) is an inherited disease that primarily affects the lungs and the digestive system, however, it also affects a number of other organs and systems. More than 90% of mortality of CF patients is due to lung complications. Healthy lungs are important for a long life for people with CF, We will discuss two important topics for maintaining respiratory health. Chronic use of drug...
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Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures rescue the functional expression of the most frequent pathogenic CFTR mutant, F508del, at the respiratory epithelial surface and reduce lung i...
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AIM To review the presentation, diagnosis and long-term, clinical follow-up of cystic fibrosis in adult patients diagnosed in adulthood at Green Lane Hospital. METHODS A retrospective review of the case notes of patients with cystic fibrosis diagnosed in adulthood at Green Lane Hospital or referred there for management. Information was collected on diagnostic tests, including sweat tests and ...
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ژورنال
عنوان ژورنال: Russian Pulmonology
سال: 2014
ISSN: 2541-9617,0869-0189
DOI: 10.18093/0869-0189-2014-0-1-71-76