Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration (Q35221739)

7 August 2017

title

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration (English)

1 reference

7 August 2017

main subject

Retinal degeneration 3

1 reference

GOA release 2020-03-11

author

Anand Swaroop

17

1 reference

7 August 2017

Hardeep P Singh

5

0 references

Chitra Kannabiran

object named as

Chitra Kannabiran

3

0 references

Samuel G. Jacobson

object named as

Samuel G Jacobson

14

0 references

Kari Branham

8

object named as

Kari Branham

1 reference

7 August 2017

9

Mohammad Othman

1 reference

7 August 2017

16

John R Heckenlively

1 reference

7 August 2017

4

Christina Chakarova

1 reference

7 August 2017

15

Shomi S Bhattacharya

1 reference

7 August 2017

10

Elena Filippova

1 reference

7 August 2017

11

Debra A Thompson

1 reference

7 August 2017

James S Friedman

1

1 reference

7 August 2017

Bo Chang

2

1 reference

7 August 2017

Subhadra Jalali

6

1 reference

7 August 2017

Norman L Hawes

7

1 reference

7 August 2017

Andrew R Webster

12

1 reference

7 August 2017

Sten Andréasson

13

1 reference

7 August 2017

language of work or name

English

0 references

publication date

23 October 2006

1 reference

American Journal of Human Genetics

7 August 2017

published in

1 reference

7 August 2017

volume

79

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7 August 2017

issue

6

1 reference

7 August 2017

page(s)

1059-1070

1 reference

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

7 August 2017

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13 July 2018

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13 July 2018

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Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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Finding a role for PML in APL pathogenesis: a critical assessment of potential PML activities

13 July 2018

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Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

13 July 2018

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13 July 2018

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13 July 2018

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Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

13 July 2018

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13 July 2018

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Nrl is required for rod photoreceptor development

13 July 2018

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A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

13 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698706

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13 July 2018

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Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698706

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

13 July 2018

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Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

13 July 2018

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

13 July 2018

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Morphological characterization of the retinal degeneration in three strains of mice carrying the rd-3 mutation.

13 July 2018

1 reference

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26 September 2018

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Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).

26 September 2018

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26 September 2018

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Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

26 September 2018

1 reference

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New mouse primary retinal degeneration (rd-3)

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17186464

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17186464

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

In and around the nucleus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17186464

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/510021

1 reference

7 August 2017

1 reference

7 August 2017

1 reference