(Q34390399)

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Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels

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Europe PubMed Central

PubMed publication ID

1 August 2017

Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

congenital disorder

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cystic fibrosis

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transmembrane protein

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author name string

J E Mickle

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

M I Milewski

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

M Macek

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

G R Cutting

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

language of work or name

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publication date

4 April 2000

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Europe PubMed Central

PubMed publication ID

1 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

1 August 2017

66

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1485-1495

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Activation of the epithelial Na+ channel (ENaC) requires CFTR Cl- channel function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

The first-nucleotide binding domain of the cystic-fibrosis transmembrane conductance regulator is important for inhibition of the epithelial Na+ channel.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Regulation of Cl-/ HCO3- exchange by cystic fibrosis transmembrane conductance regulator expressed in NIH 3T3 and HEK 293 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Role of CFTR and anion exchanger in bicarbonate fluxes in C127 cell lines.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

The amiloride-inhibitable Na+ conductance is reduced by the cystic fibrosis transmembrane conductance regulator in normal but not in cystic fibrosis airways.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Chloride channel and chloride conductance regulator domains of CFTR, 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=1378012

6 July 2018

A functional CFTR-NBF1 is required for ROMK2-CFTR interaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Inhibition of the cystic fibrosis transmembrane conductance regulator by ATP-sensitive K+ channel regulators

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Inhibition of epithelial Na+ currents by intracellular domains 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=1378012

6 July 2018

A "humanized" green fluorescent protein cDNA adapted for high-level expression in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Wild type but not deltaF508 CFTR inhibits Na+ conductance when coexpressed in Xenopus oocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Regulation of epithelial sodium channels by 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=1378012

6 July 2018

Functional activation of the cystic fibrosis trafficking mutant delta F508-CFTR by overexpression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

GTPase cascades choreographing cellular behavior: movement, morphogenesis, and more

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

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=1378012

6 July 2018

CFTR and outward rectifying chloride channels are distinct proteins with a regulatory relationship

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

CFTR as a cAMP-dependent regulator of sodium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

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=1378012

6 July 2018

Normalization of raised sodium absorption and raised calcium-mediated chloride secretion by adenovirus-mediated expression of cystic fibrosis transmembrane conductance regulator in primary human cystic fibrosis airway epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Functions of the cystic fibrosis transmembrane conductance regulator protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Both CFTR and outwardly rectifying chloride channels contribute to cAMP-stimulated whole cell chloride currents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Abnormal apical cell membrane in cystic fibrosis respiratory epithelium. An in vitro electrophysiologic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

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=1378012

6 July 2018

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=1378012

6 July 2018

Cl- channels in CF: lack of activation by protein kinase C and cAMP-dependent protein kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Chloride and potassium channels in cystic fibrosis airway epithelia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

A Cystic Fibrosis Bronchial Epithelial Cell Line: Immortalization by Adeno-12-SV40 Infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Chloride Conductance Expressed by ΔF508 and Other Mutant CFTRs In Xenopus Oocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Cystic fibrosis gene expression is not correlated with rectifying Cl- channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Generation of cAMP-Activated Chloride Currents by Expression of CFTR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 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=1378012

6 July 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=1378012

6 July 2018

Regulation by ATP and ADP of CFTR chloride channels that contain mutant nucleotide-binding domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Defective regulation of outwardly rectifying Cl- channels by protein kinase A corrected by insertion of CFTR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

6 July 2018

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=1378012

6 July 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=1378012

27 October 2018

Hyperabsorption of Na+ and raised Ca(2+)-mediated Cl- secretion in nasal epithelia of CF mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

27 October 2018

Interaction between cystic fibrosis transmembrane conductance regulator and outwardly rectified chloride channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

27 October 2018

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

27 October 2018

Cyclic AMP-dependent protein kinase opens chloride channels in normal but not cystic fibrosis airway epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

9 December 2018

Altered chloride ion channel kinetics associated with the ΔF508 cystic fibrosis mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378012

9 December 2018

Asymptomatic carrier of two CFTR mutations: consequences for prenatal diagnosis?

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypofertility with thick cervical mucus: another mild form of cystic fibrosis?

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation between genito-urinary anomalies, semen analysis and CFTR genotype in patients with congenital bilateral absence of the vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis mutation frequencies in upstate New York

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered regulation of airway epithelial cell chloride channels in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of Cytosolic Proteins That Bind to the Fanconi Anemia Complementation Group C Polypeptidein Vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural analysis of CFTR gene in congenital bilateral absence of vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Cystic Fibrosis Mutation Associated with Mild Lung Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different types of blockers of the intermediate-conductance outwardly rectifying chloride channel in epithelia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of Eight Novel Mutations in a Collaborative Analysis of a Part of the Second Transmembrane Domain of the CFTR Gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/10762539

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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