Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3) (Q24533582)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258860%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

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

1 reference

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30 December 2019

main subject

Bardet-Biedl syndrome

1 reference

3

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30 December 2019

Edwin M. Stone

10

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30 December 2019

Val C. Sheffield

11

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30 December 2019

author name string

Annie P Chiang

1

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30 December 2019

Darryl Nishimura

2

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30 December 2019

Khalil Elbedour

4

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30 December 2019

Rivka Carmi

5

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30 December 2019

Amanda L Ferguson

6

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30 December 2019

Jenifer Secrist

7

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30 December 2019

Terry Braun

8

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30 December 2019

Thomas Casavant

9

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30 December 2019

publication date

16 July 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258860%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

30 December 2019

language of work or name

English

0 references

published in

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volume

75

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30 December 2019

issue

3

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30 December 2019

page(s)

475-484

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

30 December 2019

cites work

1 reference

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

24 March 2017

1 reference

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

24 March 2017

1 reference

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Arf, Arl, Arp and Sar proteins: a family of GTP-binding proteins with a structural device for 'front-back' communication

24 March 2017

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Initial sequencing and analysis of the human genome

24 March 2017

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ADP ribosylation factor-like protein 2 (Arl2) regulates the interaction of tubulin-folding cofactor D with native tubulin

24 March 2017

1 reference

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

24 March 2017

1 reference

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24 March 2017

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ADP-ribosylation factor (ARF)-like 4, 6, and 7 represent a subgroup of the ARF family characterization by rapid nucleotide exchange and a nuclear localization signal

24 March 2017

1 reference

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The Sequence of the Human Genome

24 March 2017

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Basic local alignment search tool

24 March 2017

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182025

A novel ADP-ribosylation like factor (ARL-6), interacts with the protein-conducting channel SEC61beta subunit

24 March 2017

1 reference

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Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

24 March 2017

1 reference

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

24 March 2017

1 reference

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

24 March 2017

1 reference

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Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

24 March 2017

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The Ensembl automatic gene annotation system

7 April 2017

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182025

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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Mutations in MKKS cause Bardet-Biedl syndrome

27 September 2017

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Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

27 September 2017

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Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

27 September 2017

1 reference

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Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

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Guanine nucleotide-binding proteins that enhance choleragen ADP-ribosyltransferase activity: nucleotide and deduced amino acid sequence of an ADP-ribosylation factor cDNA.

27 September 2017

1 reference

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Sequences of the bovine and yeast ADP-ribosylation factor and comparison to other GTP-binding proteins

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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Purification of a protein cofactor required for ADP-ribosylation of the stimulatory regulatory component of adenylate cyclase by cholera toxin

30 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15258860

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/423903

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258860%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

30 December 2019

4101553

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258860%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

PubMed publication ID

15258860

1 reference