Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform (Q27347938)

GOA release 2020-03-11

Cone-rod homeobox

1 reference

ADP-ribosylation factor-like 6

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Charles C Searby

4

0 references

Diane C Slusarski

object named as

Diane C Slusarski

10

0 references

Robert F. Mullins

object named as

Robert F Mullins

7

0 references

Edwin M. Stone

object named as

Edwin M Stone

8

0 references

author name string

Pamela R Pretorius

1

0 references

Lisa M Baye

2

0 references

Darryl Y Nishimura

3

0 references

Kevin Bugge

5

0 references

Baoli Yang

6

0 references

Val C Sheffield

Creative Commons Attribution 4.0 International

9

0 references

language of work or name

English

0 references

publication date

March 2010

0 references

published in

PLOS Genetics

0 references

volume

6

0 references

issue

3

0 references

page(s)

e1000884

0 references

copyright license

start time

19 March 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

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Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

21 March 2017

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Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

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Spatial distribution of intraflagellar transport proteins in vertebrate photoreceptors

21 March 2017

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Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage

21 March 2017

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Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

21 March 2017

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Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

21 March 2017

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The renewal of photoreceptor cell outer segments

21 March 2017

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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

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The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

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The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors

7 April 2017

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Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

29 September 2017

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Mutations in MKKS cause Bardet-Biedl syndrome

29 September 2017

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Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

29 September 2017

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29 September 2017

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29 September 2017

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On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920.

29 September 2017

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Natural course of visual functions in the Bardet-Biedl syndrome

29 September 2017

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Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients

29 September 2017

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The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome

29 September 2017

1 reference

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Visual acuities and dark-adapted thresholds of children with Bardet-Biedl syndrome

29 September 2017

1 reference

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The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

29 September 2017

1 reference

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Patterns of rod and cone dysfunction in Bardet-Biedl syndrome

29 September 2017

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Early defects in photoreceptor outer segment morphogenesis in zebrafish ift57, ift88 and ift172 Intraflagellar Transport mutants

29 September 2017

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Cloning and characterization of six zebrafish photoreceptor opsin cDNAs and immunolocalization of their corresponding proteins

2 June 2018

1 reference

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Retinal neurogenesis: the formation of the initial central patch of postmitotic cells.

2 June 2018

1 reference

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The development of vision in the zebrafish (Danio rerio).

2 June 2018

1 reference

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Cell differentiation in the retina of the mouse

2 June 2018

1 reference

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Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.

2 June 2018

1 reference

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Intraflagellar transport genes are essential for differentiation and survival of vertebrate sensory neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000884

Zebrafish cone-rod (crx) homeobox gene promotes retinogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000884

N-cadherin mediates retinal lamination, maintenance of forebrain compartments and patterning of retinal neurites

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000884

Rod contributions to the electroretinogram of the dark-adapted developing zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000884

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841623

The development of photoreceptors in the zebrafish, brachydanio rerio. II. Function

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20333246

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Early retinal development in the zebrafish, Danio rerio: light and electron microscopic analyses

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20333246

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Visual function in Laurence-Moon-Bardet-Biedl syndrome. A survey of 26 cases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20333246

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1000884

1 reference

release_uzo6dv7r7ndethf57udl7refea

Fatcat ID

0 references

1 reference

1 reference

PubMed publication ID

20333246

1 reference