Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function (Q24300539)

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15 January 2020

title

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function (English)

1 reference

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15 January 2020

main subject

Bardet-Biedl syndrome 4

1 reference

cilium assembly

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Bardet-Biedl syndrome 2

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Bardet-Biedl syndrome 5

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gene trafficking

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inferred from title

Bardet-Biedl syndrome

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3

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15 January 2020

Edwin M. Stone

4

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15 January 2020

Val C Sheffield

5

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15 January 2020

Diane C Slusarski

6

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15 January 2020

author name string

Hsan-Jan Yen

1

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15 January 2020

Marwan K Tayeh

2

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15 January 2020

language of work or name

English

0 references

publication date

6 January 2006

1 reference

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15 January 2020

published in

Human Molecular Genetics

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15 January 2020

volume

15

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15 January 2020

issue

5

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15 January 2020

page(s)

667-677

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

15 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

Conserved function for embryonic nodal cilia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

The Cerberus/Dan-family protein Charon is a negative regulator of Nodal signaling during left-right patterning in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

Gangliosides that associate with lipid rafts mediate transport of cholera and related toxins from the plasma membrane to endoplasmic reticulm

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

Actin Microfilaments Facilitate the Retrograde Transport from the Golgi Complex to the Endoplasmic Reticulum in Mammalian Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

The cytoskeleton in fish melanophore melanosome positioning

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

A cluster of noninvoluting endocytic cells at the margin of the zebrafish blastoderm marks the site of embryonic shield formation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

The T box transcription factor no tail in ciliated cells controls zebrafish left-right asymmetry.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

Zebrafish cone-rod (crx) homeobox gene promotes retinogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

The melanosome: membrane dynamics in black and white

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

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/10.1093%2FHMG%2FDDI468

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

Otx5 regulates genes that show circadian expression in the zebrafish pineal complex

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

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/10.1093%2FHMG%2FDDI468

7 January 2021

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

Expression of achaete-scute homolog 3 in Xenopus embryos converts ectodermal cells to a neural fate

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

The melanosome as a model to study organelle motility in mammals

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

Pigment Cells: A Model for the Study of Organelle Transport

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

Light stimulates a transducin-independent increase of cytoplasmic Ca2+ and suppression of current in cones from the zebrafish mutant nof.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

Sensitive two-color whole-mount in situ hybridizations using digoxygenin- and dinitrophenol-labeled RNA probes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI468

7 January 2021

Identifiers

DOI

10.1093/HMG/DDI468

2 references

Consolidated OpenCitations Corpus – April 2017

1007378

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16399798%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1007378

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1007378