(Q39491182)

English

Disrupted post-transcriptional regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) by a 5'UTR mutation is associated with a CFTR-related disease.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837768%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Disrupted post-transcriptional regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) by a 5'UTR mutation is associated with a CFTR-related disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837768%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

cystic fibrosis

0 references

transmembrane protein

0 references

Samuel W Lukowski

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837768%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

author name string

Cristina Bombieri

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837768%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Ann E O Trezise

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837768%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

publication date

1 October 2011

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837768%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837768%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

32

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837768%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837768%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

E2266-82

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21837768%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Dissecting eukaryotic translation and its control by ribosome density mapping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Chronic pancreatitis: genetics and pathogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Modifier genes in Mendelian disorders: the example of cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

EDNRA variants associate with smooth muscle mRNA levels, cell proliferation rates, and cystic fibrosis pulmonary disease severity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Cardiac expression of the cystic fibrosis transmembrane conductance regulator involves novel exon 1 usage to produce a unique amino-terminal protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Modulation of cystic fibrosis lung disease by variants in interleukin-8.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

uAUG and uORFs in human and rodent 5'untranslated mRNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Paradigm shift in surgical approaches to spontaneous pneumothorax: VATS.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

AUG codons at the beginning of protein coding sequences are frequent in eukaryotic mRNAs with a suboptimal start codon context

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Influences of mRNA secondary structure on initiation by eukaryotic ribosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

In vivo evaluation of the context sequence of the translation initiation codon in plants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

The genetics of quantitative traits: challenges and prospects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

The genetic signatures of noncoding RNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Derepression of the Her-2 uORF is mediated by a novel post-transcriptional control mechanism in cancer cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Diversity of preferred nucleotide sequences around the translation initiation codon in eukaryote genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Analysis of DEFB1 regulatory SNPs in cystic fibrosis patients from North-Eastern Italy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Isolation of differentially expressed cDNAs during ferret tracheal development: application of differential display PCR.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Developmental expression patterns of CFTR in ferret tracheal surface airway and submucosal gland epithelia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

5'-untranslated regions with multiple upstream AUG codons can support low-level translation via leaky scanning and reinitiation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Mfold web server for nucleic acid folding and hybridization prediction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

Binding of a cytosolic protein to the iron-responsive element of human ferritin messenger RNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

7 January 2021

based on heuristic

inferred from DOI database lookup

Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic modifiers of lung disease in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

7 January 2021

based on heuristic

inferred from DOI database lookup

CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

7 January 2021

based on heuristic

inferred from DOI database lookup

Tissue-specific in vivo transcription start sites of the human and murine cystic fibrosis genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21545

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q39491182&oldid=1465111227"