(Q37218359)

19 August 2017

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene (English)

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19 August 2017

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whole genome sequencing

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21

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19 August 2017

Carlo Rivolta

22

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Jacques S Beckmann

object named as

Jacques S Beckmann

16

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Robert Koenekoop

11

object named as

Robert K Koenekoop

1 reference

19 August 2017

10

Dror Sharon

1 reference

19 August 2017

Koji M Nishiguchi

1

1 reference

19 August 2017

Richard G Tearle

2

1 reference

19 August 2017

Yangfan P Liu

3

1 reference

19 August 2017

Edwin C Oh

4

1 reference

19 August 2017

Noriko Miyake

5

1 reference

19 August 2017

Paola Benaglio

6

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19 August 2017

Shyana Harper

7

1 reference

19 August 2017

Hanna Koskiniemi-Kuendig

8

1 reference

19 August 2017

Giulia Venturini

9

1 reference

19 August 2017

Makoto Nakamura

12

1 reference

19 August 2017

Mineo Kondo

13

1 reference

19 August 2017

Shinji Ueno

14

1 reference

19 August 2017

Tetsuhiro R Yasuma

15

1 reference

19 August 2017

Shiro Ikegawa

17

1 reference

19 August 2017

Naomichi Matsumoto

18

1 reference

19 August 2017

Hiroko Terasaki

19

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19 August 2017

Eliot L Berson

20

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19 August 2017

language of work or name

English

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publication date

16 September 2013

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Proceedings of the National Academy of Sciences of the United States of America

19 August 2017

1 reference

19 August 2017

110

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19 August 2017

40

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19 August 2017

16139-16144

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Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

The ciliopathies: a transitional model into systems biology of human genetic disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

ω-3 intake and visual acuity in patients with retinitis pigmentosa receiving vitamin A

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Defective trafficking of rhodopsin and its role in retinal degenerations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

miR-124a is required for hippocampal axogenesis and retinal cone survival through Lhx2 suppression

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Copy-number variations in EYS: a significant event in the appearance of arRP.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Molecular characterization of retinitis pigmentosa in Saudi Arabia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Massively parallel sequencing: the next big thing in genetic medicine

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Mechanisms of apoptosis in retinitis pigmentosa.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Caught Nek-ing: cilia and centrioles

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Rootletin forms centriole-associated filaments and functions in centrosome cohesion

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

A centrosomal function for the human Nek2 protein kinase, a member of the NIMA family of cell cycle regulators.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Retinitis pigmentosa. The Friedenwald Lecture

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791719

3 September 2018

Identifiers

DOI

10.1073/PNAS.1308243110

1 reference

19 August 2017

0 references

1 reference

19 August 2017

PubMed publication ID

24043777

1 reference