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Items: 12

1.

Cystic Fibrosis

An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.

Year introduced: 1967

2.

Cystic Fibrosis Transmembrane Conductance Regulator

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)

Year introduced: 1996

3.

Calgranulin A

A 10.8-kDa member of the S-100 family of calcium-binding proteins that can form homo- or heterocomplexes with CALGRANULIN B and a variety of other proteins. The calgranulin A/B heterodimer is known as LEUKOCYTE L1 ANTIGEN COMPLEX. Calgranulin A is found in many cell types including GRANULOCYTES; KERATINOCYTES; and myelomonocytes, and has been shown to act as a chemotactic substance for NEUTROPHILS. Because it is present in acute inflammation but absent in chronic inflammation, it is a useful biological marker for a number of pathological conditions.

Year introduced: 2003

5.

cystic fibrosis transmembrane conductance regulator (505-511) [Supplementary Concept]

synthetic peptide deduced from the sequence corresponding to positions 505 to 511 of cystic fibrosis transmembrane conductance regulator

6.

ciliary dyskinesia factor [Supplementary Concept]

small molecule (between 1,000-10,000 molec wt) from cultured skin fibroblasts & amniotic fluid cells of cystic fibrosis carriers is activated in presence of IgG & tested by rabbit bioassay; proteins from blood; see also related ciliostatic factor (cystic fibrosis)

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cystic fibrosis transmembrane conductance regulator delta F508 [Supplementary Concept]

CFTR - Cystic Fibrosis Transmembrane conductance regulator (a plasma membrane chloride channel); has mutation deletion of phenylalanine at residue 508; associated with cystic fibrosis

11.

cystic fibrosis serum factor [Supplementary Concept]

found in human serum; a specific marker for identification of cystic fibrosis, see also: Cystic Fibrosis Transmembrane Conductance Regulator

12.
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