A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity (Q28513461)

25 January 2017

title

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity (English)

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Bardet-Biedl syndrome 1 (human)

25 January 2017

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1 reference

Bardet-Biedl syndrome 2 (human)

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Bardet-Biedl syndrome 4 (human)

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McKusick-Kaufman syndrome

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Bardet-Biedl syndrome

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inferred from title

Bardet-Biedl syndrome 1

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Kamal Rahmouni

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Edwin M. Stone

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Roger E. Davis

1 reference

25 January 2017

Ruth E. Swiderski

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25 January 2017

Darryl Y. Nishimura

1 reference

25 January 2017

Robert F. Mullins

1 reference

25 January 2017

Khristofor Agassandian

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25 January 2017

Alisdair R. Philp

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25 January 2017

Charles C. Searby

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25 January 2017

Michael P. Andrews

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25 January 2017

Stewart Thompson

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25 January 2017

Christopher J. Berry

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25 January 2017

Daniel R. Thedens

1 reference

25 January 2017

Baoli Yang

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25 January 2017

Robert M. Weiss

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25 January 2017

Martin D. Cassell

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25 January 2017

Val C. Sheffield

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25 January 2017

language of work or name

English

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publication date

4 December 2007

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

25 January 2017

published in

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25 January 2017

volume

104

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25 January 2017

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25 January 2017

page(s)

19422–19427

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describes a project that uses

25 January 2017

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2148305/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

19 March 2017

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Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

19 March 2017

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19 March 2017

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

19 March 2017

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Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

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

19 March 2017

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19 March 2017

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

19 March 2017

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19 March 2017

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

19 March 2017

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19 March 2017

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19 March 2017

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Identifiers

DOI

10.1073/PNAS.0708571104

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