Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis. (Q33620824)

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27 February 2020

title

Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis (English)

1 reference

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27 February 2020

0 references

2

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27 February 2020

Javier De Gracia

5

1 reference

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27 February 2020

Anabela S Ramalho

6

1 reference

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27 February 2020

Margarida Duarte Amaral

7

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27 February 2020

Sara Larriba

8

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27 February 2020

Teresa Casals

9

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27 February 2020

1

Laia Masvidal

1 reference

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27 February 2020

author name string

Maria D Ramos

3

1 reference

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27 February 2020

Antoni Alvarez

4

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27 February 2020

publication date

16 October 2013

1 reference

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European Journal of Human Genetics

27 February 2020

published in

1 reference

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27 February 2020

volume

22

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27 February 2020

issue

6

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27 February 2020

page(s)

784-791

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https://scigraph.springernature.com/pub.10.1038/ejhg.2013.238

27 February 2020

exact match

0 references

cites work

GUSB and ATP2B4 are suitable reference genes for CFTR gene expression data normalization in nasal epithelium cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

Understanding the contribution of synonymous mutations to human disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

Quantification of CFTR transcripts.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

Alternative splicing: good and bad effects of translationally silent substitutions.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

Processing of CFTR: traversing the cellular maze--how much CFTR needs to go through to avoid cystic fibrosis?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

21 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.238

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.238

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.238

CFTR rearrangements in Spanish cystic fibrosis patients: first new duplication (35kb) characterised in the Mediterranean countries

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.238

Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.238

The CFTR 3849+10kbC->T and 2789+5G->A alleles are associated with a mild CF phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.238

Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

Reverse transcription-competitive multiplex PCR improves quantification of mRNA in clinical samples--application to the low abundance CFTR mRNA.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4023213

Spectrum of Mutations in the CFTR Gene in Cystic Fibrosis Patients of Spanish Ancestry

30 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.238

Testicular CFTR Splice Variants in Patients with Congenital Absence of the Vas Deferens

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.238

Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

21 January 2018

1 reference

12 December 2020

Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis

1 reference

12 December 2020

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

1 reference

12 December 2020

The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation

1 reference

12 December 2020

Alternative splicing and disease

1 reference

12 December 2020

Cystic fibrosis patients with the 3272-26A?G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.238

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2013.238

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129438%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129438%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

PubMed publication ID

24129438

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24129438%20AND%20SRC:MED&resulttype=core&format=json