(Q24680972)

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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

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scholarly article

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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 (English)

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Bardet-Biedl syndrome

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based on heuristic

inferred from title

Nicholas Katsanis

19

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Jean-Louis Mandel

21

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Christelle Thibault

object named as

Christelle Thibault

15

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object named as

Jean Muller

2

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object named as

Alain Verloes

17

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Frédéric Plewniak

8

object named as

Frederic Plewniak

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12

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Thomy J L de Ravel

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ORCID Public Data File 2021

Corinne Stoetzel

1

object named as

Corinne Stoetzel

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Virginie Laurier

3

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Virginie Laurier

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6

object named as

Serge Vicaire

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Carmen C Leitch

9

object named as

Carmen C Leitch

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11

object named as

Christian Hamel

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Jean-Marc Danse

16

object named as

Jean-Marc Danse

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Dominique Bonneau

18

object named as

Dominique Bonneau

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Hélène Dollfus

22

object named as

Helene Dollfus

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4

object named as

Erica E Davis

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author name string

Norann A Zaghloul

5

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Cecile Jacquelin

7

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Pierre Sarda

10

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Richard Alan Lewis

13

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Evelyne Friederich

14

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Olivier Poch

20

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language of work or name

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publication date

January 2007

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American Journal of Human Genetics

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80

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1-11

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1

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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

The Ciliopathies: An Emerging Class of Human Genetic Disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

Crystal structure of the thermosome, the archaeal chaperonin and homolog of CCT

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

7 April 2017

The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

28 September 2017

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

28 September 2017

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

28 September 2017

The oligogenic properties of Bardet-Biedl syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

28 September 2017

Multiple alignment of complete sequences (MACS) in the post-genomic era.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

28 September 2017

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

28 September 2017

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

30 May 2018

High incidence of Bardet Biedl syndrome among the Bedouin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

19 June 2018

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

28 November 2018

Origin and evolution of eukaryotic chaperonins: phylogenetic evidence for ancient duplications in CCT genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785304

28 November 2018

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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