(Q45869556)

17 December 2017

title

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation (English)

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17 December 2017

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7

Peter Nürnberg

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17 December 2017

8

Heymut Omran

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17 December 2017

Fabian Schmid

1

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17 December 2017

Esther Glaus

2

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17 December 2017

Daniel Barthelmes

3

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17 December 2017

Manfred Fliegauf

4

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17 December 2017

Harald Gaspar

5

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17 December 2017

Gudrun Nürnberg

6

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17 December 2017

Wolfgang Berger

9

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17 December 2017

John Neidhardt

10

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17 December 2017

publication date

1 July 2011

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17 December 2017

published in

Human Mutation

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17 December 2017

volume

32

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17 December 2017

issue

7

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17 December 2017

page(s)

815-824

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17 December 2017

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

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Effect of gene therapy on visual function in Leber's congenital amaurosis

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Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

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21 January 2018

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Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

21 January 2018

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21 January 2018

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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

21 January 2018

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Further support for digenic inheritance in Bardet-Biedl syndrome

21 January 2018

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Pre-mRNA splicing and human disease

21 January 2018

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21 January 2018

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The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia

21 January 2018

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The oligogenic properties of Bardet-Biedl syndrome

21 January 2018

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21 January 2018

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Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

21 January 2018

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Safety and efficacy of gene transfer for Leber's congenital amaurosis

21 January 2018

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Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

21 January 2018

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A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

21 January 2018

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Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

21 January 2018

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21 January 2018

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A new type of mutation causes a splicing defect in ATM.

21 January 2018

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A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies

21 January 2018

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A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa

21 January 2018

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ALOHOMORA: a tool for linkage analysis using 10K SNP array data

21 January 2018

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Progress toward effective treatments for human photoreceptor degenerations

21 January 2018

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Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

21 January 2018

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The spliceosome: design principles of a dynamic RNP machine

21 January 2018

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Splicing in disease: disruption of the splicing code and the decoding machinery

21 January 2018

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B-cell-specific transgene expression using a self-inactivating retroviral vector with human CD19 promoter and viral post-transcriptional regulatory element

21 January 2018

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Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

21 January 2018

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A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

21 January 2018

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Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

21 January 2018

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Identification and characterization of a novel RPGR isoform in human retina

21 January 2018

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GRR: graphical representation of relationship errors

21 January 2018

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7 January 2021

Taking vesicular transport to the cilium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21509

7 January 2021

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21509

7 January 2021

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21509

7 January 2021

Identifiers

DOI

10.1002/HUMU.21509

1 reference

17 December 2017

release_a2bfomicyreb5bentzp6l6cnta

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/a2bfomicyreb5bentzp6l6cnta

24 November 2022

mapped directly with Wikidata item

1 reference

17 December 2017