'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations (Q24798831)

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English	'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations	scientific article

Statements

instance of

scholarly article

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review article

7 references

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PubMed

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20 June 2019

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PubMed

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30 June 2019

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PubMed

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14 September 2019

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PubMed

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28 November 2019

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PubMed

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15 December 2019

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PubMed

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6 November 2020

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PubMed

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27 January 2024

title

'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations (English)

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main subject

cystic fibrosis

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transmembrane protein

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genetic variation

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PubMed

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14 September 2019

transport protein

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PubMed

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28 November 2019

membrane protein

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PubMed

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15 December 2019

mutation

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PubMed

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6 November 2020

author name string

P G Noone

series ordinal

1

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M R Knowles

series ordinal

2

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language of work or name

English

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publication date

9 August 2001

7 references

stated in

PubMed Central

retrieved

20 June 2019

stated in

PubMed Central

retrieved

30 June 2019

stated in

PubMed Central

retrieved

14 September 2019

stated in

PubMed Central

retrieved

28 November 2019

stated in

PubMed Central

retrieved

15 December 2019

stated in

PubMed Central

retrieved

6 November 2020

stated in

PubMed Central

retrieved

27 January 2024

published in

Respiratory Research

7 references

stated in

PubMed Central

retrieved

20 June 2019

stated in

PubMed Central

retrieved

30 June 2019

stated in

PubMed Central

retrieved

14 September 2019

stated in

PubMed Central

retrieved

28 November 2019

stated in

PubMed Central

retrieved

15 December 2019

stated in

PubMed Central

retrieved

6 November 2020

stated in

PubMed Central

retrieved

27 January 2024

volume

2

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issue

6

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page(s)

328-32

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cites work

Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=64805

retrieved

7 April 2017

DeltaF508 heterozygosity in cystic fibrosis and susceptibility to asthma

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=64805

retrieved

7 April 2017

The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=64805

retrieved

7 April 2017

Cystic fibrosis mutations and genetic predisposition to idiopathic chronic pancreatitis

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=64805

retrieved

28 September 2017

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=64805

retrieved

28 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=64805

retrieved

28 September 2017

CFTR gene variant IVS8-5T in disseminated bronchiectasis.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=64805

retrieved

30 May 2018

Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=64805

retrieved

19 June 2018

Increased Prevalence of Mutations of the Cystic Fibrosis Gene in Idiopathic Chronic and Recurrent Pancreatitis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=64805

retrieved

28 November 2018

Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11737931

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutations in the cystic fibrosis gene in adult patients with asthma

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11737931

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11737931

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11737931

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lung disease associated with the IVS8 5T allele of the CFTR gene

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11737931

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11737931

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11737931

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protection against bronchial asthma by CFTR ΔF508 mutation: A heterozygote advantage in cystic fibrosis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11737931

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nasal potential difference in cystic fibrosis patients presenting borderline sweat test

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11737931

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CFTR gene mutations in adults with disseminated bronchiectasis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11737931

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DeltaF508 heterozygosity and asthma

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11737931

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1186/RR82

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1136212

Dimensions Publication ID

1044622055

1 reference

stated in

SciGraph

retrieved

9 September 2019

reference URL

https://scigraph.springernature.com/pub.10.1186/rr82

OpenCitations bibliographic resource ID

1136212

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1136212

PMC publication ID

64805

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1136212

PubMed publication ID

11737931

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1136212

ResearchGate publication ID

11618452

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