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

Bardet-Biedl syndrome 4 (human)

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

James R. Lupski

7

0 references

Jose Badano

object named as

Jose L. Badano

4

0 references

Nicholas Katsanis

object named as

Nicholas Katsanis

10

0 references

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

1 reference

31 January 2017

Randall R. Reed

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

9

1 reference

31 January 2017

language of work or name

English

0 references

publication date

1 September 2004

1 reference

31 January 2017

1 reference

31 January 2017

36

1 reference

31 January 2017

9

1 reference

31 January 2017

994–998

1 reference

31 January 2017

1 reference

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

21 April 2017

1 reference

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

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

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

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

21 April 2017

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

21 April 2017

Intraflagellar transport

1 reference

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

21 April 2017

1 reference

A Human Syndrome Caused by Immotile Cilia

21 April 2017

1 reference

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

7 January 2021

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

1 reference

7 January 2021

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Ultrastructural aspects of olfactory transduction and perireceptor events

1 reference

7 January 2021

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

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

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

1 reference

7 January 2021

Identification of a specialized adenylyl cyclase that may mediate odorant detection

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Microtubule-based transport along axons, dendrites and axonemes

1 reference

7 January 2021