(Q24298711)

Nephronophthisis 1 (juvenile) homolog (human)

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

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12

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Bernhard Schermer

7

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Hanswalter Zentgraf

10

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Thomas Benzing

11

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author name string

Manfred Fliegauf

1

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Judit Horvath

2

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Christian von Schnakenburg

3

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Dominik Müller

5

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Julia Thumfart

6

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Gregory J Pazour

8

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Hartmut P H Neumann

Journal of the American Society of Nephrology

9

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language of work or name

English

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publication date

September 2006

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published in

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volume

17

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issue

9

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page(s)

2424-33

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cites work

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

New insights: nephronophthisis-medullary cystic kidney disease

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Isolation of respiratory cilia

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

https://api.crossref.org/works/10.1681%2FASN.2005121351

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

The centrosome in human genetic disease

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Intraflagellar transport

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

All-digital image capture and whole-field analysis of ciliary beat frequency

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

IFT20 links kinesin II with a mammalian intraflagellar transport complex that is conserved in motile flagella and sensory cilia

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

A proteomic analysis of human cilia: identification of novel components

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Centrin plays an essential role in microtubule severing during flagellar excision in Chlamydomonas reinhardtii

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

To beat or not to beat: roles of cilia in development and disease

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Characterization of an axonemal dynein heavy chain expressed early in airway epithelial ciliogenesis

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

IL-13 alters mucociliary differentiation and ciliary beating of human respiratory epithelial cells

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception

1 reference

https://api.crossref.org/works/10.1681%2FASN.2005121351

7 January 2021

Identifiers

DOI

10.1681/ASN.2005121351

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

16885411

1 reference

Consolidated OpenCitations Corpus – April 2017