(Q21092494)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

title

A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

ALMS1, centrosome and basal body associated

23 December 2019

main subject

cilium assembly

0 references

1 reference

GOA release 2020-03-11

1 reference

5

Christopher Goodnow

Christopher

Goodnow

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Guochun Li

1

Guochun

Li

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Raquel Vega

2

Raquel

Vega

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Keats Nelms

3

Keats

Nelms

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Nicholas Gekakis

4

Nicholas

Gekakis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Peter McNamara

6

Peter

McNamara

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Hua Wu

7

Hua

Wu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Nancy A Hong

8

Nancy A

Hong

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Richard Glynne

9

Richard

Glynne

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

language of work or name

English

0 references

publication date

30 November 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

volume

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

page(s)

e8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

23 December 2019

copyright license

start time

1 January 2007

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Proteomic characterization of the human centrosome by protein correlation profiling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Vertebrate Smoothened functions at the primary cilium

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Functional coordination of intraflagellar transport motors.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Functional genomics of the cilium, a sensory organelle

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Fat aussie--a new Alström syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-/- mice analysis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Alms1-disrupted mice recapitulate human Alström syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Genome-wide transcriptional analysis of flagellar regeneration in Chlamydomonas reinhardtii identifies orthologs of ciliary disease genes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Cilium-generated signaling and cilia-related disorders

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Polarity proteins control ciliogenesis via kinesin motor interactions

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Polycystic kidney disease: new understanding in the pathogenesis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Removal of the MDCK cell primary cilium abolishes flow sensing

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Alström syndrome. Report of 22 cases and literature review.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Loss of primary cilia results in deregulated and unabated apical calcium entry in ARPKD collecting duct cells

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

New Alström syndrome phenotypes based on the evaluation of 182 cases

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Polycystin-2 is a novel cation channel implicated in defective intracellular Ca(2+) homeostasis in polycystic kidney disease

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1761047

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

29 November 2018

1 reference

12 December 2020

A "two-hit" model of cystogenesis in autosomal dominant polycystic kidney disease?

1 reference

12 December 2020

Early development of polycystic kidney disease in transgenic mice expressing an activated mutant of the beta-catenin gene

1 reference

12 December 2020

Somatic inactivation of Pkd2 results in polycystic kidney disease

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.0030008

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17206865%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference