(Q34249600)

31 July 2017

Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia (English)

1 reference

31 July 2017

0 references

photoreceptor protein

0 references

Margaret J Dallman

5

0 references

Jose S. Ramalho

José S Ramalho

7

0 references

Clare E Futter

Clare E Futter

6

0 references

Miguel C. Seabra

Miguel C Seabra

12

0 references

Magnus Abrink

3

Magnus Abrink

1 reference

31 July 2017

Tanya Tolmachova

1

1 reference

31 July 2017

Ross Anders

2

1 reference

31 July 2017

Laurence Bugeon

4

1 reference

31 July 2017

Felix Tonagel

8

1 reference

31 July 2017

Naoyuki Tanimoto

9

1 reference

31 July 2017

Mathias W Seeliger

10

1 reference

31 July 2017

Clare Huxley

11

1 reference

31 July 2017

language of work or name

English

0 references

publication date

12 January 2006

1 reference

Journal of Clinical Investigation

31 July 2017

1 reference

31 July 2017

116

1 reference

31 July 2017

2

1 reference

31 July 2017

386-394

1 reference

In vivo confocal imaging of the retina in animal models using scanning laser ophthalmoscopy

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

The retinal pigment epithelium in visual function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Controlling the location and activation of Rab GTPases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Choroideremia gene testing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

The role of Rab27a in the regulation of melanosome distribution within retinal pigment epithelial cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Rab GTPases, intracellular traffic and disease.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Molecular genetics of age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Rab27a regulates the peripheral distribution of melanosomes in melanocytes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Rab proteins as membrane organizers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Expression pattern of cSix3, a member of the Six/sine oculis family of transcription factors.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Protein prenyltransferases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Inducible site-directed recombination in mouse embryonic stem cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

REP-2, a Rab escort protein encoded by the choroideremia-like gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Cloning of a gene that is rearranged in patients with choroideraemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

A general role for Rab27a in secretory cells

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Inducible gene silencing in podocytes: a new tool for studying glomerular function.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

The homeobox gene Six3 is a potential regulator of anterior segment formation in the chick eye.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

The mammalian Rab family of small GTPases: definition of family and subfamily sequence motifs suggests a mechanism for functional specificity in the Ras superfamily.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Dissecting the role of N-myc in development using a single targeting vector to generate a series of alleles.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

Mechanism of digeranylgeranylation of Rab proteins. Formation of a complex between monogeranylgeranyl-Rab and Rab escort protein

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1326146

New insights into the pathogenesis of choroideremia: a tale of two REPs

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16410831

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Retina- and ventral forebrain-specific Cre recombinase activity in transgenic mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16410831

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI26617

1 reference

31 July 2017

1 reference

31 July 2017

1 reference