(Q34104083)

31 July 2017

title

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa (English)

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31 July 2017

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Joseph C Corbo

6

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Carlo Rivolta

object named as

Carlo Rivolta

14

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author name string

Thomas Langmann

1

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31 July 2017

Silvio Alessandro Di Gioia

2

1 reference

31 July 2017

Isabella Rau

3

1 reference

31 July 2017

Heidi Stöhr

4

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31 July 2017

Nela S Maksimovic

5

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31 July 2017

Agnes B Renner

7

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31 July 2017

Eberhart Zrenner

8

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31 July 2017

Govindasamy Kumaramanickavel

9

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31 July 2017

Marcus Karlstetter

10

1 reference

31 July 2017

Yvan Arsenijevic

11

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31 July 2017

Bernhard H F Weber

12

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31 July 2017

Andreas Gal

13

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31 July 2017

language of work or name

English

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publication date

12 August 2010

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American Journal of Human Genetics

31 July 2017

published in

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31 July 2017

volume

87

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31 July 2017

issue

3

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31 July 2017

page(s)

376-381

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CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933350

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933350

An abundance of ubiquitously expressed genes revealed by tissue transcriptome sequence data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933350

Why do cone photoreceptors die in rod-specific forms of retinal degenerations?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933350

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933350

Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933350

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933350

Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933350

A perfect message: RNA surveillance and nonsense-mediated decay

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933350

Cone opsin mislocalization in Rpe65-/- mice: a defect that can be corrected by 11-cis retinal

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933350

Confirmation of linkage and refinement of the RP28 locus for autosomal recessive retinitis pigmentosa on chromosome 2p14-p15 in an Indian family.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933350

Identification and characterization of a novel RPGR isoform in human retina

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933350

10.1016/J.AJHG.2010.07.018

28 October 2018

Identifiers

DOI

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31 July 2017

1 reference

31 July 2017

1 reference