CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR. (Q34728748)

4 August 2017

title

CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR. (English)

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4 August 2017

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5

Carlos Milla

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4 August 2017

7

Eric D Green

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4 August 2017

Molly B Sheridan

1

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4 August 2017

Timothy W Hefferon

2

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4 August 2017

Nulang Wang

3

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4 August 2017

Christian Merlo

4

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4 August 2017

Drucy Borowitz

6

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4 August 2017

Peter J Mogayzel

8

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4 August 2017

Garry R Cutting

9

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4 August 2017

language of work or name

English

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publication date

20 November 2010

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Journal of Medical Genetics

4 August 2017

published in

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4 August 2017

volume

48

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4 August 2017

issue

4

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4 August 2017

page(s)

235-241

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Intronic enhancers coordinate epithelial-specific looping of the active CFTR locus

4 August 2017

cites work

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7 July 2018

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

7 July 2018

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7 July 2018

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7 July 2018

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Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

7 July 2018

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

7 July 2018

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Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G→T and 711 +1G→T mutations

7 July 2018

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In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis

7 July 2018

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7 July 2018

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Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis

7 July 2018

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

7 July 2018

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Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts

7 July 2018

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Genetic determination of exocrine pancreatic function in cystic fibrosis

7 July 2018

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Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions.

7 July 2018

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Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.

26 October 2018

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

26 October 2018

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A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model.

26 October 2018

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

26 October 2018

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Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

26 October 2018

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Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

26 October 2018

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Comprehensive mutation screening in a cystic fibrosis center.

26 October 2018

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Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.

26 October 2018

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

26 October 2018

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Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

9 December 2018

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Detection of over 98% cystic fibrosis mutations in a Celtic population

9 December 2018

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12 December 2020

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

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12 December 2020

Abnormal mRNA splicing resulting from three different mutations in the CFTR gene

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12 December 2020

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

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12 December 2020

Identification of two new mutations (711 + 3A→G and V1397E) in CF chromosomes of Albanian and Macedonian origin

1 reference

12 December 2020

Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells

1 reference

12 December 2020

Contribution of proline residues in the membrane-spanning domains of cystic fibrosis transmembrane conductance regulator to chloride channel function

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12 December 2020

Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.

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12 December 2020

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

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12 December 2020

A 96-well formatted method for exon and exon/intron boundary full sequencing of the CFTR gene

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12 December 2020

Multiple potential intragenic regulatory elements in the CFTR gene

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12 December 2020

Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene

1 reference

12 December 2020

Detection of CFTR mutations using temporal temperature gradient gel electrophoresis

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2010.083287

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4 August 2017

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4 August 2017

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