Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse (Q28593460)

31 January 2017

title

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse (English)

1 reference

Bardet-Biedl syndrome 1 (human)

31 January 2017

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1 reference

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Bardet-Biedl syndrome 4 (human)

GOA release 2020-03-11

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GOA release 2020-03-11

author

James R. Lupski

7

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Jose Badano

object named as

Jose L. Badano

4

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Nicholas Katsanis

object named as

Nicholas Katsanis

10

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Erica R. Eichers

3

object named as

Erica R. Eichers

1 reference

31 January 2017

Heather M. Kulaga

1

1 reference

31 January 2017

Carmen C. Leitch

2

1 reference

31 January 2017

Alysa Lesemann

5

1 reference

31 January 2017

Bethan E. Hoskins

6

1 reference

31 January 2017

Philip L. Beales

8

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31 January 2017

Randall R. Reed

9

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31 January 2017

language of work or name

English

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publication date

1 September 2004

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31 January 2017

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31 January 2017

volume

36

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31 January 2017

issue

9

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31 January 2017

page(s)

994–998

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

31 January 2017

cites work

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https://api.crossref.org/works/10.1038/NG1418

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

21 April 2017

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https://api.crossref.org/works/10.1038/NG1418

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1418

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1418

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

https://api.crossref.org/works/10.1038/NG1418

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1418

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1418

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1418

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1418

Disruption of the type III adenylyl cyclase gene leads to peripheral and behavioral anosmia in transgenic mice

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1418

21 April 2017

Intraflagellar transport

1 reference

https://api.crossref.org/works/10.1038/NG1418

Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1418

A Human Syndrome Caused by Immotile Cilia

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

Ultrastructural aspects of olfactory transduction and perireceptor events

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

Development of the 12-item Cross-Cultural Smell Identification Test (CC-SIT).

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

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

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

Identification of a specialized adenylyl cyclase that may mediate odorant detection

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

Cloning and characterization of SLP3: a novel member of the stomatin family expressed by olfactory receptor neurons

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

A test of odor fluency in patients with Alzheimer's and Huntington's disease

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021

Microtubule-based transport along axons, dendrites and axonemes

1 reference

https://api.crossref.org/works/10.1038%2FNG1418

7 January 2021