(Q28292806)

23 June 2017

title

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin (English)

1 reference

Bardet-Biedl syndrome 2 (human)

23 June 2017

main subject

1 reference

Bardet-Biedl syndrome 4 (human)

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Melissa Fath

0 references

Kirk Mykytyn

0 references

Robert F Mullins

0 references

Edwin M Stone

0 references

Darryl Y Nishimura

1 reference

23 June 2017

Charles Searby

1 reference

23 June 2017

Michael Andrews

1 reference

23 June 2017

Roger Davis

1 reference

23 June 2017

Jeaneen L Andorf

1 reference

23 June 2017

Ruth E Swiderski

1 reference

23 June 2017

Baoli Yang

1 reference

23 June 2017

Rivka Carmi

1 reference

23 June 2017

Val C Sheffield

1 reference

23 June 2017

language of work or name

English

0 references

publication date

11 November 2004

1 reference

Proceedings of the National Academy of Sciences of the United States of America

23 June 2017

1 reference

inferred from page(s)

published in

1 reference

23 June 2017

volume

101

1 reference

23 June 2017

1 reference

23 June 2017

page(s)

16588-16593

1 reference

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

23 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) 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=534519

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Mutations in MKKS cause Bardet-Biedl syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Behavioral phenotyping of transgenic and knockout mice: experimental design and evaluation of general health, sensory functions, motor abilities, and specific behavioral tests

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Function in protein folding of TRiC, a cytosolic ring complex containing TCP-1 and structurally related subunits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

The McKusick-Kaufman syndrome: Recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534519

A tale of two tails: ciliary mechanotransduction in ADPKD

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15539463

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Application of acrylamide as an embedding medium in studies of lectin and antibody binding in the vertebrate retina

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15539463

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15539463

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0405496101

1 reference

OpenCitations bibliographic resource ID

23 June 2017

0 references

1376100

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1376100

1 reference