(Q28188363)

English

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

scientific article (publication date: August 2003)

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scholarly article

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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 (English)

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1 reference

GOA release 2020-03-11

Corinne Antignac

18

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Bernhard Schermer

2

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21

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Friedhelm Hildebrandt

22

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object named as

Edgar A Otto

1

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Andreas Kispert

14

object named as

Andreas Kispert

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19

object named as

Gerd Walz

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Iain A Drummond

20

object named as

Iain A Drummond

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7

object named as

Rainer G Ruf

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9

object named as

Frank Beekmann

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8

object named as

Julia Hoefele

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Adelheid M Mueller

6

object named as

Adelheid M Mueller

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Judith A Goodship

12

object named as

Judith A Goodship

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author name string

Tomoko Obara

3

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John F O'Toole

4

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Karl S Hiller

5

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Daniel Landau

10

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John W Foreman

11

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Tom Strachan

13

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Matthias T Wolf

15

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Marie F Gagnadoux

16

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Hubert Nivet

17

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language of work or name

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publication date

August 2003

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Nature Genetics

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34

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4

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413-20

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Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

Inversin forms a complex with catenins and N-cadherin in polarized epithelial cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

Molecular genetics of nephronophthisis and medullary cystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

14-3-3 interacts with regulator of G protein signaling proteins and modulates their activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

The ion channel polycystin-2 is required for left-right axis determination in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

Cardiac defects and renal failure in mice with targeted mutations in Pkd2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

20 March 2017

The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

7 April 2017

Genetics and pathogenesis of polycystic kidney disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

29 September 2017

A proteomic analysis of human cilia: identification of novel components

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

29 September 2017

The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

29 September 2017

Renal fibrosis: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

29 September 2017

Genetic localization of interacting modifiers affecting severity in a murine model of polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

29 September 2017

Upregulation of RGS7 may contribute to tumor necrosis factor-induced changes in central nervous function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

29 September 2017

Kinesin and dynein superfamily proteins in organelle transport and cell division.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

29 September 2017

Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

29 September 2017

Reversal of left-right asymmetry: a situs inversus mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

29 September 2017

Early development of the zebrafish pronephros and analysis of mutations affecting pronephric function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

2 June 2018

Cloning of inv, a gene that controls left/right asymmetry and kidney development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

2 June 2018

Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

27 November 2018

Cardiopulmonary malformations in the inv/inv mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

27 November 2018

The C. elegans homolog of the murine cystic kidney disease gene Tg737 functions in a ciliogenic pathway and is disrupted in osm-5 mutant worms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

27 November 2018

Abnormal nodal flow precedes situs inversus in iv and inv mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

27 November 2018

The nephronophthisis complex. A clinicopathologic study in children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3732175

27 November 2018

Ciliary signaling goes down the tubes

1 reference

https://pubmed.ncbi.nlm.nih.gov/12872123

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

1 reference

https://pubmed.ncbi.nlm.nih.gov/12872123

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Taxol inhibits progression of congenital polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12872123

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microtubule active taxanes inhibit polycystic kidney disease progression in cpk mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/12872123

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic inactivation of Pkd2 results in polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12872123

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney).]

1 reference

https://pubmed.ncbi.nlm.nih.gov/12872123

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_kck4gjuev5adrgmbxckp7l7edq

1 reference

https://api.fatcat.wiki/v0/release/kck4gjuev5adrgmbxckp7l7edq

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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