Cystic Fibrosis Transmembrane Conductance Regulator
"Cystic Fibrosis Transmembrane Conductance Regulator" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8)
| Descriptor ID |
D019005
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| MeSH Number(s) |
D12.776.157.530.100.304.500 D12.776.157.530.400.175.125 D12.776.157.530.450.074.500.500.500.500 D12.776.543.550.450.175.125 D12.776.543.585.100.304.500 D12.776.543.585.400.175.125 D12.776.543.585.450.074.500.500.500.500
|
| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Cystic Fibrosis Transmembrane Conductance Regulator".
Below are MeSH descriptors whose meaning is more specific than "Cystic Fibrosis Transmembrane Conductance Regulator".
This graph shows the total number of publications written about "Cystic Fibrosis Transmembrane Conductance Regulator" by people in this website by year, and whether "Cystic Fibrosis Transmembrane Conductance Regulator" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2004 | 1 | 0 | 1 |
| 2005 | 1 | 0 | 1 |
| 2006 | 2 | 0 | 2 |
| 2008 | 1 | 0 | 1 |
| 2010 | 1 | 0 | 1 |
| 2011 | 1 | 0 | 1 |
| 2013 | 2 | 1 | 3 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Cystic Fibrosis Transmembrane Conductance Regulator" by people in Profiles.
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High frequency of germline variants in CFTR identified in PDAC patients enrolled in an expanded panel multi-gene panel testing program. HPB (Oxford). 2024 08; 26(8):1082-1085.
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Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2014 Feb; 23(1):5-15.
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The silent codon change I507-ATC->ATT contributes to the severity of the ?F508 CFTR channel dysfunction. FASEB J. 2013 Nov; 27(11):4630-45.
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Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. J Mol Diagn. 2013 Sep; 15(5):710-22.
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Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening. J Cyst Fibros. 2012 May; 11(3):257-60.
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Report of two patients with associated conditions in addition to cystic fibrosis. J Cyst Fibros. 2010 Jul; 9(4):269-71.
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The role of the F508C mutation in congenital bilateral absence of the vas deferens. Genet Med. 2008 Dec; 10(12):910-4.
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Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas. 2006 Oct; 33(3):221-7.
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Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening. Genet Med. 2006 Sep; 8(9):557-62.
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Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum. J Mol Diagn. 2005 May; 7(2):289-99.