|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Cystic fibrosis is caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR), commonly the deletion of residue Phe-508 (DeltaF508) in the first nucleotide-binding domain (NBD1), which results in a severe reduction in the population of functional channels at the epithelial cell surface.
|
15528182 |
2005 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.
|
1284530 |
1992 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We have studied a sample of 39 CF patients of Tunisian origin and have used a GC clamp DGGE assay to scan the CFTR gene.
|
8800923 |
1996 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In the current study, we investigated the mechanism responsible for the gating defects manifested in R117H-CFTR, an arginine-to-histidine substitution at position 117 of CFTR that is associated with mild forms of CF.
|
26846474 |
2016 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.
|
9375855 |
1997 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).
|
9521595 |
1998 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
I148T-CFTR has been associated with a severe CF phenotype, perhaps because of defects in its regulation of bicarbonate transport, but it transports chloride similarly to wild-type CFTR in model systems (Choi JY, Muallem D, Kiselyov K, Lee MG, Thomas PJ, Muallem S. Nature 410: 94-97, 2001). cRNAs encoding alphabetagamma-mENaC and I148T-CFTR were injected separately or together into Xenopus oocytes. mENaC and CFTR functional expression were assessed by two-electrode voltage clamp. mENaC whole oocyte expression was determined by immunoblotting, and surface expression was quantitated by surface biotinylation.
|
16822950 |
2007 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Rescue of ΔF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway.
|
21884936 |
2011 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
To determine whether other mutations occur in the NBFs of CFTR, we determined the nucleotide sequences of exons 9, 10, 11 and 12 (encoding the first NBF) and exons 20, 21 and 22 (encoding most of the second NBF) from 20 Caucasian and 18 American-black CF patients.
|
1695717 |
1990 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin.
|
7524913 |
1994 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
|
20150177 |
2010 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.
|
8723695 |
1996 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here, we investigated the impact of these compounds on the instability of F508del-CFTR, the most common CF mutation.
|
28087700 |
2017 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland.
|
1284548 |
1992 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.
|
9452048 |
1998 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
|
7683628 |
1993 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The identification of additional CF-causing mutants with normal Cl- channel activity indicates, however, that other CFTR-dependent processes contribute to the disease.
|
11242048 |
2001 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.
|
1284466 |
1992 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings.
|
7606851 |
1995 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In order to determine the possible role of the cystic fibrosis transmembrane regulator (CFTR) gene in pulmonary diseases not due to cystic fibrosis, a complete screening of the CFTR gene was performed in 120 Italian patients with disseminated bronchiectasis of unknown cause (DBE), chronic bronchitis (CB), pulmonary emphysema (E), lung cancer (LC), sarcoidosis (S) and other forms of pulmonary disease.
|
9921909 |
1998 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Since mutations with this phenotype represent at least 70% of known CF chromosomes, we argue that the molecular basis of most cystic fibrosis is the absence of mature CFTR at the correct cellular location.
|
1699669 |
1990 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).
|
7517264 |
1994 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) result in the disease cystic fibrosis.
|
28001373 |
2017 |
|
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).
|
1710600 |
1991 |