Is Cystic Fibrosis Genetic Medicine’s Canary?
نویسندگان
چکیده
منابع مشابه
Is cystic fibrosis genetic medicine's canary?
In 1989 the gene that causes cystic fibrosis (CF) was identified in a search accompanied by intense anticipation that the gene, once discovered, would lead rapidly to gene therapy. Many hoped that the disease would effectively disappear. Those affected were going to inhale vectors packed with functioning genes, which would go immediately to work in the lungs. It was a bewitching image, repeated...
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We studied large Amish/Mennonite/Hutterite kindreds that segregate cystic fibrosis (CF) for linkage between CF and the polymorphic DNA markers pJ3.11 and 7C22 located on chromosome 7. These inbred pedigrees consist of more than 300 members including 30 affected individuals. In these families, linkage between the CF locus and the chromosome 21 marker D21S5 and between CF and the marker at the me...
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Cystic fibrosis is a common genetic disease that usually presents in early childhood as a devastating disease affecting pulmonary function and at times gastrointestinal functioning and nutritional status. Variant forms of this disease have been described, which may have a delayed age of onset or a milder clinical course. Numerous genetic mutations have been described in cystic fibrosis. There a...
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Diabetes is a common age-dependent complication of cystic fibrosis (CF) that is strongly influenced by modifier genes. We conducted a genome-wide association study in 3,059 individuals with CF (644 with CF-related diabetes [CFRD]) and identified single nucleotide polymorphisms (SNPs) within and 5' to the SLC26A9 gene that associated with CFRD (hazard ratio [HR] 1.38; P = 3.6 × 10(-8)). Replicat...
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Perspective The Cystic Fibrosis Gene: A Molecular Genetic Lap-Chee Tsui and Ruslan Dorfman Cystic Fibrosis Status of Fluid and Electrolyte Absorption in M.M. Reddy and M. Jackson Stutts Anion Permeation The CFTR Ion Channel: Gating, Regulation, and Tzyh-Chang Hwang and Kevin L. Kirk Phenotypes The Influence of Genetics on Cystic Fibrosis Michael R. Knowles and Mitchell Drumm CFTR Assessing the ...
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ژورنال
عنوان ژورنال: Perspectives in Biology and Medicine
سال: 2011
ISSN: 1529-8795
DOI: 10.1353/pbm.2011.0035