(Q37377671)

English

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

scientific article published on January 1998

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scholarly article

1 reference

Europe PubMed Central

20 August 2017

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation (English)

1 reference

Europe PubMed Central

20 August 2017

cystic fibrosis

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transmembrane protein

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author name string

Cuppens H

1

1 reference

Europe PubMed Central

20 August 2017

Lin W

2

1 reference

Europe PubMed Central

20 August 2017

Jaspers M

3

1 reference

Europe PubMed Central

20 August 2017

Costes B

4

1 reference

Europe PubMed Central

20 August 2017

Teng H

5

1 reference

Europe PubMed Central

20 August 2017

Vankeerberghen A

6

1 reference

Europe PubMed Central

20 August 2017

Jorissen M

7

1 reference

Europe PubMed Central

20 August 2017

Droogmans G

8

1 reference

Europe PubMed Central

20 August 2017

Reynaert I

9

1 reference

Europe PubMed Central

20 August 2017

Goossens M

10

1 reference

Europe PubMed Central

20 August 2017

Nilius B

11

1 reference

Europe PubMed Central

20 August 2017

Cassiman JJ

12

1 reference

Europe PubMed Central

20 August 2017

language of work or name

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publication date

1 January 1998

1 reference

Europe PubMed Central

20 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

20 August 2017

101

1 reference

Europe PubMed Central

20 August 2017

487-496

1 reference

Europe PubMed Central

20 August 2017

2

1 reference

Europe PubMed Central

20 August 2017

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

6 September 2017

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

6 September 2017

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

6 September 2017

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

6 September 2017

Genetic analysis of type 1 diabetes using whole genome approaches

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

6 September 2017

Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

6 September 2017

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

6 September 2017

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

6 September 2017

Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

6 September 2017

Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

6 September 2017

Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

6 September 2017

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

14 September 2017

Conformational maturation of CFTR but not its mutant counterpart (delta F508) occurs in the endoplasmic reticulum and requires ATP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

28 September 2017

Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

28 September 2017

CFTR gene variant IVS8-5T in disseminated bronchiectasis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

26 June 2018

Prediction of the antigenic sites of the cystic fibrosis transmembrane conductance regulator protein by molecular modelling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

26 June 2018

APOE*4-associated Alzheimer's disease risk is modified by alpha 1-antichymotrypsin polymorphism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

26 June 2018

CFTR gene variant for patients with congenital absence of vas deferens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

26 June 2018

Decreased expression of the CFTR protein in remodeled human nasal epithelium from non-cystic fibrosis patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

26 June 2018

Stable expression of VLA-4 and increased maturation of the beta 1-integrin precursor after transfection of CHO cells with alpha 4m cDNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

26 June 2018

Kinetic properties of the cardiac T-type calcium channel in the guinea-pig.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

26 June 2018

Phosphorylation-regulated CI− channel in CHO cells stably expressing the cystic fibrosis gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

26 June 2018

Demonstration That CFTR Is a Chloride Channel by Alteration of Its Anion Selectivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

26 June 2018

Expression and characterization of the cystic fibrosis transmembrane conductance regulator.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

26 June 2018

Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

26 June 2018

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

26 June 2018

Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

26 June 2018

Accessing genetic information with high-density DNA arrays.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

2 September 2018

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

2 September 2018

Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

2 September 2018

Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508589

2 September 2018

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France

1 reference

https://pubmed.ncbi.nlm.nih.gov/9435322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/9435322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9435322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CFTR haplotype backgrounds on normal and mutant CFTR genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9435322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9435322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/9435322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/9435322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

https://pubmed.ncbi.nlm.nih.gov/9435322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apolipoprotein E polymorphism and atherosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9435322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The preservation and regeneration of cilia on human nasal epithelial cells cultured in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/9435322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/9435322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9435322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/9435322

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

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