Bardet-Biedl syndrome: beyond the cilium. (Q36759366)

16 August 2017

2 references

22 December 2020

Bardet-Biedl syndrome: beyond the cilium (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6904379&resulttype=core&format=json

13 May 2020

main subject

Bardet-Biedl syndrome

1 reference

cilium

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author name string

Jonathan L Tobin

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6904379&resulttype=core&format=json

13 May 2020

Philip L Beales

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6904379&resulttype=core&format=json

13 May 2020

publication date

15 March 2007

1 reference

16 August 2017

1 July 2007

1 reference

22 December 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6904379&resulttype=core&format=json

13 May 2020

22 December 2020

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6904379&resulttype=core&format=json

13 May 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6904379&resulttype=core&format=json

13 May 2020

page(s)

926-936

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6904379&resulttype=core&format=json

Creative Commons Attribution

13 May 2020

copyright license

1 reference

22 December 2020

0 references

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-007-0435-0

Urographic findings in the Bardet-Biedl syndrome, formerly the Laurence-Moon-Biedl syndrome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-007-0435-0

Polaris, a protein disrupted in orpk mutant mice, is required for assembly of renal cilium

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-007-0435-0

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

21 January 2018

1 reference

12 December 2020

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

12 December 2020

Insertional mutagenesis and molecular analysis of a new gene associated with polycystic kidney disease.

1 reference

12 December 2020

Congenital renal abnormalities in the Laurence-Moon-Biedl syndrome

1 reference

12 December 2020

Antenatal renal sonographic anomalies and postnatal follow-up of renal involvement in Bardet-Biedl syndrome

1 reference

12 December 2020

Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function

1 reference

12 December 2020

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

1 reference

12 December 2020

Cilia and Hedgehog responsiveness in the mouse

1 reference

12 December 2020

Defective planar cell polarity in polycystic kidney disease

1 reference

12 December 2020

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

1 reference

12 December 2020

Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli

1 reference

12 December 2020

PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells

1 reference

12 December 2020

PKD2 functions as an epidermal growth factor-activated plasma membrane channel

1 reference

12 December 2020

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

1 reference

12 December 2020

The interaction of Piasy with Trim32, an E3-ubiquitin ligase mutated in limb-girdle muscular dystrophy type 2H, promotes Piasy degradation and regulates UVB-induced keratinocyte apoptosis through NFkappaB

1 reference

12 December 2020

The importance of renal impairment in the natural history of Bardet-Biedl syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

The renal lesion of the Laurence-Moon-Biedl syndrome

1 reference

12 December 2020

Cilia: tuning in to the cell's antenna.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Dynein: An ancient motor protein involved in multiple modes of transport

1 reference

12 December 2020

Intraflagellar transport

1 reference

12 December 2020

Localization of 5-HT(6) receptors at the plasma membrane of neuronal cilia in the rat brain

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Primary central nervous system lymphoma in a renal transplant recipient with Bardet-Biedl syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Mechanism of transport of IFT particles in C. elegans cilia by the concerted action of kinesin-II and OSM-3 motors

1 reference

12 December 2020

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

1 reference

12 December 2020

PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts

1 reference

12 December 2020

GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis

1 reference

12 December 2020

Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors

1 reference

12 December 2020

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

1 reference

12 December 2020

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

12 December 2020

Unique functions of Sonic hedgehog signaling during external genitalia development

1 reference

12 December 2020

Laurence-Moon-Bardet-Biedl syndrome for kidney transplantation at the age of 57 years

1 reference

12 December 2020

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.

1 reference

12 December 2020

Energy metabolism in Bardet–Biedl syndrome

1 reference

12 December 2020

Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II

1 reference

12 December 2020

The primary cilium as the cell's antenna: signaling at a sensory organelle

1 reference

12 December 2020

Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome

1 reference

12 December 2020

New insights: nephronophthisis-medullary cystic kidney disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease

1 reference

12 December 2020

Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling

1 reference

12 December 2020

Functional coordination of intraflagellar transport motors.

1 reference

12 December 2020

Polygenic control of Caenorhabditis elegans fat storage

1 reference

12 December 2020

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

1 reference

12 December 2020

10.1007/S00467-007-0435-0

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6904379&resulttype=core&format=json

13 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6904379&resulttype=core&format=json

13 May 2020

1 reference