(Q44785356)

6 December 2017

title

Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo (English)

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6 December 2017

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Katrin Sangkuhl

1

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6 December 2017

Angela Schulz

2

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6 December 2017

Holger Römpler

3

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6 December 2017

June Yun

4

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6 December 2017

Jürgen Wess

5

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6 December 2017

Torsten Schöneberg

6

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6 December 2017

publication date

3 March 2004

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6 December 2017

published in

Human Molecular Genetics

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6 December 2017

volume

13

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6 December 2017

issue

9

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6 December 2017

page(s)

893-903

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Defects in G protein-coupled signal transduction in human disease

6 December 2017

cites work

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH105

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The structural basis of g-protein-coupled receptor function and dysfunction in human diseases

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Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

21 January 2018

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Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line

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Nephrogenic diabetes insipidus.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH105

Generation and phenotype of mice harboring a nonsense mutation in the V2 vasopressin receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH105

Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH105

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

21 January 2018

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Skewed X inactivation in X-linked disorders

21 January 2018

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Intracellular calcium in primary cultures of rat renal inner medullary collecting duct cells during variations of extracellular osmolality

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH105

In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients

21 January 2018

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Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH105

Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH105

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH105

Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH105

Impact of the six nucleotides downstream of the stop codon on translation termination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH105

Skin and mucous membrane ulceration in beagle dogs following oral dosing with an experimental aminoglycoside antibiotic

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH105

Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH105

A highly sensitive adenylate cyclase assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH105

21 January 2018

Identifiers

DOI

10.1093/HMG/DDH105

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6 December 2017

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