Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome (Q27919661)

PubMed

26 November 2016

title

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

1 reference

PubMed

ADP-ribosylation factor-like protein 6 CELE_C38D4.8

26 November 2016

main subject

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GOA release 2020-03-11

Bardet-Biedl syndrome

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5

Keith Boroevich

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Oliver E Blacque

Oliver E Blacque

4

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Jose Badano

Jose L Badano

8

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Nicholas Katsanis

Nicholas Katsanis

17

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Michel R Leroux

19

Michel R Leroux

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David L Baillie

15

David L Baillie

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author name string

Yanli Fan

1

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William S Davidson

18

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Susan J Moore

7

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Stephen J Ansley

3

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Richard Alan Lewis

12

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Philip L Beales

16

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Patrick S Parfrey

14

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Muneer A Esmail

2

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Mieke M van Haelst

13

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Jane S Green

11

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Helen May-Simera

9

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Deanna S Compton

10

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Alison J Ross

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

6

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language of work or name

English

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publication date

September 2004

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36

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issue

9

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page(s)

989-93

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cites work

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

21 April 2017

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

21 April 2017

1 reference

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

21 April 2017

1 reference

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

21 April 2017

1 reference

Role for Arf3p in development of polarity, but not endocytosis, in Saccharomyces cerevisiae.

21 April 2017

1 reference

The structural GDP/GTP cycle of human Arf6

21 April 2017

1 reference

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

21 April 2017

1 reference

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3

21 April 2017

1 reference

Profile hidden Markov models

21 April 2017

1 reference

Small GTP-binding proteins

21 April 2017

1 reference

7 January 2021

The oligogenic properties of Bardet-Biedl syndrome

1 reference

7 January 2021

ADP-ribosylation factor (ARF)-like 7 (ARL7) is induced by cholesterol loading and participates in apolipoprotein AI-dependent cholesterol export

1 reference

7 January 2021

Intraflagellar transport

1 reference

7 January 2021

Intraflagellar transport and cilia-dependent diseases.

1 reference

7 January 2021

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

1 reference

7 January 2021

Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

1 reference

7 January 2021

Erratum: finckh U, Schroder J, ressler B, veske A, gal A. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Am J med genet 92:40-46

1 reference

7 January 2021

Identification of CHE-13, a novel intraflagellar transport protein required for cilia formation

1 reference

7 January 2021

Arfophilins are dual Arf/Rab 11 binding proteins that regulate recycling endosome distribution and are related to Drosophila nuclear fallout

1 reference

7 January 2021

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

1 reference

7 January 2021

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

1 reference

7 January 2021

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

1 reference

7 January 2021

Small G proteins of two green algae are localized to exocytic compartments and to flagella

1 reference

7 January 2021

Dimensions Publication ID

Identifiers

DOI

10.1038/NG1414

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1011476418

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1 reference

PubMed