(Q28594074)

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice (English)

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

Rod outer segment membrane protein 1

21 January 2020

main subject

1 reference

GOA release 2020-03-11

1 reference

Hajime Sato

1

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Tomohiro Suzuki

2

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Kyoko Ikeda

3

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Hiroshi Masuya

4

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Hideki Sezutsu

5

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Hideki Kaneda

6

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Kimio Kobayashi

7

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Ikuo Miura

8

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Yasuyuki Kurihara

9

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Shunji Yokokura

10

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Kohji Nishida

11

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Makoto Tamai

12

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Yoichi Gondo

13

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Tetsuo Noda

14

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Shigeharu Wakana

15

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

publication date

10 March 2010

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

volume

16

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

page(s)

378-391

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300562%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

21 January 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2838736/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI)

1 reference

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Insertion of Inhbb into the Inhba locus rescues the Inhba-null phenotype and reveals new activin functions

17 March 2017

1 reference

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Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

17 March 2017

1 reference

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Cloning of the CDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Statistical search on the Semantic Web.

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

OmicBrowse: a browser of multidimensional omics annotations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Implementation of the modified-SHIRPA protocol for screening of dominant phenotypes in a large-scale ENU mutagenesis program

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the arf tumor suppressor gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

The role of subunit assembly in peripherin-2 targeting to rod photoreceptor disk membranes and retinitis pigmentosa.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Mutation analysis of the ROM1 gene in retinitis pigmentosa.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

An engineered 800 kilobase deletion of Uchl3 and Lmo7 on mouse chromosome 14 causes defects in viability, postnatal growth and degeneration of muscle and retina

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

The effect of peripherin/rds haploinsufficiency on rod and cone photoreceptors.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838736

Absence of receptor outer segments in the retina of rds mutant mice

27 November 2018

1 reference

12 December 2020

Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes

1 reference

12 December 2020

Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice

1 reference

12 December 2020

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

1 reference

12 December 2020

A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa

1 reference

12 December 2020

Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors

1 reference

12 December 2020

Putative association of a mutant ROM1 allele with retinitis pigmentosa

1 reference

12 December 2020

Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes

1 reference

12 December 2020

Analysis of the rds/peripherin.rom1 complex in transgenic photoreceptors that express a chimeric protein

1 reference

12 December 2020

Genotype-based screen for ENU-induced mutations in mouse embryonic stem cells

1 reference

12 December 2020

Calorie restriction modulates age-dependent changes in the retinas of Brown Norway rats

1 reference

12 December 2020

Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa

1 reference

12 December 2020