Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients (Q62583358)

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20 October 2019

title

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients (English)

1 reference

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20 October 2019

main subject

nasal epithelial cell

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2

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20 October 2019

Manfred Stuhrmann

3

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20 October 2019

author name string

Will K

1

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20 October 2019

von der Hardt H

4

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20 October 2019

Ellemunter H

5

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20 October 2019

Tümmler B

6

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20 October 2019

Schmidtke J

7

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20 October 2019

publication date

1 January 1995

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20 October 2019

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20 October 2019

volume

5

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20 October 2019

issue

3

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20 October 2019

page(s)

210-220

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Ribosome gymnastics--degree of difficulty 9.5, style 10.0.

20 October 2019

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Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

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The skipping of constitutive exons in vivo induced by nonsense mutations

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A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA

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A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction

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Skipping of exon 5 as a consequence of the 711 + 1 G-->T mutation in the CFTR gene

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Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease

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A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

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Alternative splicing generates a secreted form of N-CAM in muscle and brain

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Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2

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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

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7 January 2021

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

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7 January 2021

The stop mutation R553X in the CFTR gene results in exon skipping

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Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia

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7 January 2021

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

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7 January 2021

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Identifiers

DOI

10.1002/HUMU.1380050305

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7541274%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference