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

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23 December 2019

Guochun Li

1

Guochun

Li

1 reference

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23 December 2019

Raquel Vega

2

Raquel

Vega

1 reference

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23 December 2019

Keats Nelms

3

Keats

Nelms

1 reference

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23 December 2019

Nicholas Gekakis

4

Nicholas

Gekakis

1 reference

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23 December 2019

Peter McNamara

6

Peter

McNamara

1 reference

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23 December 2019

Hua Wu

7

Hua

Wu

1 reference

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23 December 2019

Nancy A Hong

8

Nancy A

Hong

1 reference

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23 December 2019

Richard Glynne

9

Richard

Glynne

1 reference

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23 December 2019

language of work or name

English

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publication date

30 November 2006

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23 December 2019

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23 December 2019

volume

3

1 reference

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23 December 2019

issue

1

1 reference

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23 December 2019

page(s)

e8

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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

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

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

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

19 March 2017

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19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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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

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

19 March 2017

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

19 March 2017

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Alms1-disrupted mice recapitulate human Alström syndrome

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts

7 April 2017

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

7 April 2017

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7 April 2017

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7 April 2017

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12 September 2017

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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

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Cilium-generated signaling and cilia-related disorders

12 September 2017

1 reference

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Polarity proteins control ciliogenesis via kinesin motor interactions

12 September 2017

1 reference

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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

PubMed publication ID

17206865

1 reference