(Q40102428)

17 September 2017

In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome (English)

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17 September 2017

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Annie Rebibo-Sabbah

1

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17 September 2017

Igor Nudelman

2

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17 September 2017

Zubair M Ahmed

3

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17 September 2017

Timor Baasov

4

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17 September 2017

Tamar Ben-Yosef

5

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17 September 2017

language of work or name

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25 July 2007

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17 September 2017

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17 September 2017

122

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17 September 2017

3-4

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17 September 2017

373-381

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https://scigraph.springernature.com/pub.10.1007/s00439-007-0410-7

17 September 2017

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cites work

Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-007-0410-7

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

21 January 2018

1 reference

12 December 2020

The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15

1 reference

12 December 2020

Aminoglycosides: nephrotoxicity

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12 December 2020

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

1 reference

12 December 2020

Comparison of cytotoxicity of aminoglycoside antibiotics using a panel cellular biotest system

1 reference

12 December 2020

Defective myosin VIIA gene responsible for Usher syndrome type 1B

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12 December 2020

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

1 reference

12 December 2020

Redesign of aminoglycosides for treatment of human genetic diseases caused by premature stop mutations

1 reference

12 December 2020

Searching for evidence of DFNB2.

1 reference

12 December 2020

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

1 reference

12 December 2020

Usher syndrome: from genetics to pathogenesis.

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12 December 2020

Audiologic performance and benefit of cochlear implantation in Usher syndrome type I.

1 reference

12 December 2020

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

1 reference

12 December 2020

Usher syndrome: molecular links of pathogenesis, proteins and pathways

1 reference

12 December 2020

A conserved family of nuclear phosphoproteins localized to sites of polymerase II transcription

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12 December 2020

Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts

1 reference

12 December 2020

Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results

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12 December 2020

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

1 reference

12 December 2020

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

1 reference

12 December 2020

Aminoglycoside antibiotics

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12 December 2020

The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.

1 reference

12 December 2020

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

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12 December 2020

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

1 reference

12 December 2020

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

1 reference

12 December 2020

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

1 reference

12 December 2020

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

1 reference

12 December 2020

PHENOTYPIC REPAIR BY STREPTOMYCIN OF DEFECTIVE GENOTYPES IN E. COLI

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin

1 reference

12 December 2020

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

12 December 2020

Phenotypic suppression and misreading in Saccharomyces cerevisiae

1 reference

12 December 2020

Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons

1 reference

12 December 2020

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

1 reference

12 December 2020

10.1007/S00439-007-0410-7

Identifiers

DOI

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Dimensions Publication ID

17 September 2017

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1 reference