Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly (Q28585659)

31 January 2017

title

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

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Bardet-Biedl syndrome 4 (human)

31 January 2017

main subject

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GOA release 2020-03-11

Bardet-Biedl syndrome

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Kirk Mykytyn

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Edwin M. Stone

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Robert F. Mullins

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31 January 2017

Michael Andrews

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31 January 2017

Annie P. Chiang

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31 January 2017

Ruth E. Swiderski

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31 January 2017

Baoli Yang

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31 January 2017

Terry Braun

1 reference

31 January 2017

Thomas Casavant

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31 January 2017

Val C. Sheffield

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31 January 2017

language of work or name

English

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publication date

8 June 2004

1 reference

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

31 January 2017

published in

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31 January 2017

volume

101

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31 January 2017

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31 January 2017

page(s)

8664–8669

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

31 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423252

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423252

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423252

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

17 March 2017

1 reference

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Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423252

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

17 March 2017

1 reference

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The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene

17 March 2017

1 reference

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Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity 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=423252

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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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=423252

Intrafamilial variation of the phenotype in 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=423252

Intraflagellar transport is required in Drosophila to differentiate sensory cilia but not sperm.

29 September 2017

1 reference

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Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors

3 June 2018

1 reference

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

3 June 2018

1 reference

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

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/15173597

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

https://pubmed.ncbi.nlm.nih.gov/15173597

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0402354101

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ADS bibcode

2004PNAS..101.8664M

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1 reference

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1 reference