Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships. (Q37447165)

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English	Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.	scientific article

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25 December 2019

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships (English)

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25 December 2019

cystic fibrosis

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transmembrane protein

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1 reference

based on heuristic

inferred from title

2

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25 December 2019

William B Guggino

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William B Guggino

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25 December 2019

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Kristina V Krasnov

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25 December 2019

Jie Cheng

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25 December 2019

Garry R Cutting

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1 November 2008

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25 December 2019

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25 December 2019

29

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25 December 2019

11

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25 December 2019

1364-1372

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25 December 2019

Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785447

23 August 2017

The ABC protein turned chloride channel whose failure causes cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785447

23 August 2017

Modulation of mature cystic fibrosis transmembrane regulator protein by the PDZ domain protein CAL

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785447

23 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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785447

23 August 2017

A PDZ-interacting domain in CFTR is an apical membrane polarization signal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785447

23 August 2017

Structure and function of the CFTR chloride channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785447

23 August 2017

Regulation of CFTR chloride channels by syntaxin and Munc18 isoforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785447

23 August 2017

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=2785447

23 August 2017

Abnormal localization of cystic fibrosis transmembrane conductance regulator in primary cultures of 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=2785447

23 August 2017

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=2785447

6 September 2017

Establishment and characterization of a novel polarized MDCK epithelial cellular model for CFTR studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785447

14 September 2017

Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785447

14 September 2017

A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785447

14 September 2017

Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785447

28 September 2017

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=2785447

26 June 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=2785447

26 June 2018

Mutations of the CFTR gene in Turkish patients with congenital bilateral 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=2785447

2 September 2018

Variant cystic fibrosis phenotypes in the absence of CFTR mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785447

2 September 2018

Effect of cystic fibrosis-associated mutations in the fourth intracellular loop of 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=2785447

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=2785447

2 September 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=2785447

2 September 2018

CFTR genotypes in patients with normal or borderline sweat chloride levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2785447

2 September 2018

Mislocalization of ΔF508 CFTR in cystic fibrosis sweat gland

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951463

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/18951463

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/18951463

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/18951463

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/18951463

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/18951463

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/18951463

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/18951463

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/18951463

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/18951463

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/18951463

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/18951463

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/18951463

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/18951463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/18951463

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of the clinical manifestations of cystic fibrosis in black and white patients

1 reference

https://api.crossref.org/works/10.1002/HUMU.20866

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20866

1 reference

Europe PubMed Central

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25 December 2019

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25 December 2019

PubMed publication ID

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Europe PubMed Central

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25 December 2019

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