Genetic and physical interaction between the NPHP5 and NPHP6 gene products (Q28118065)

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Language	Label	Description	Also known as
English	Genetic and physical interaction between the NPHP5 and NPHP6 gene products	scientific journal article

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instance of

scholarly article

1 reference

stated in

PubMed

PubMed publication ID

18723859

retrieved

4 January 2017

title

Genetic and physical interaction between the NPHP5 and NPHP6 gene products (English)

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PubMed

PubMed publication ID

18723859

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4 January 2017

main subject

Centrosomal protein 290

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GOA release 2020-03-11

identical protein binding

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GOA release 2020-03-11

author

Friedhelm Hildebrandt

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13

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Soeren S Lienkamp

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Soeren Lienkamp

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3

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Edgar A. Otto

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Edgar A. Otto

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12

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Albrecht Kramer-Zucker

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14

object named as

Albrecht Kramer-Zucker

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PubMed

PubMed publication ID

18723859

retrieved

4 January 2017

John A. Sayer

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11

object named as

John A. Sayer

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PubMed

PubMed publication ID

18723859

retrieved

4 January 2017

Gerd Walz

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15

object named as

Gerd Walz

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PubMed

PubMed publication ID

18723859

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4 January 2017

Peter G. Czarnecki

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10

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Peter G. Czarnecki

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PubMed

PubMed publication ID

18723859

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4 January 2017

Athina Ganner

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4

object named as

Athina Ganner

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PubMed

PubMed publication ID

18723859

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4 January 2017

author name string

Tobias Schäfer

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1

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PubMed

PubMed publication ID

18723859

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4 January 2017

Michael Pütz

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2

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PubMed

PubMed publication ID

18723859

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4 January 2017

Astrid Bergbreiter

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5

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PubMed

PubMed publication ID

18723859

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4 January 2017

Haribaskar Ramachandran

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6

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PubMed

PubMed publication ID

18723859

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4 January 2017

Verena Gieloff

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7

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PubMed

PubMed publication ID

18723859

retrieved

4 January 2017

Martin Gerner

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8

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PubMed

PubMed publication ID

18723859

retrieved

4 January 2017

Christian Mattonet

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9

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PubMed

PubMed publication ID

18723859

retrieved

4 January 2017

publication date

1 December 2008

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PubMed

PubMed publication ID

18723859

retrieved

4 January 2017

published in

Human Molecular Genetics

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PubMed

PubMed publication ID

18723859

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4 January 2017

volume

17

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PubMed

PubMed publication ID

18723859

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4 January 2017

issue

23

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PubMed

PubMed publication ID

18723859

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4 January 2017

page(s)

3655–3662

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PubMed

PubMed publication ID

18723859

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4 January 2017

cites work

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

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

20 March 2017

The C/EBP homologous protein CHOP (GADD153) is an inhibitor of Wnt/TCF signals

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

20 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

20 March 2017

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

20 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

20 March 2017

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

20 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

20 March 2017

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

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

20 March 2017

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

20 March 2017

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

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

20 March 2017

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

20 March 2017

When cilia go bad: cilia defects and ciliopathies

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

7 April 2017

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

7 April 2017

Appendix G: In Situ Hybridization: An Improved Whole-Mount Method for Xenopus Embryos

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

7 April 2017

The subcellular localization of TRPP2 modulates its function

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

29 September 2017

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

29 September 2017

Nephronophthisis-associated ciliopathies

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

29 September 2017

Autoinhibition regulates the motility of the C. elegans intraflagellar transport motor OSM-3

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

29 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

29 September 2017

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

27 November 2018

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2802281

retrieved

27 November 2018

Identifiers

DOI

10.1093/HMG/DDN260

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PMC publication ID

2802281

0 references

PubMed publication ID

18723859

1 reference

stated in

PubMed

PubMed publication ID

18723859

retrieved

4 January 2017

ResearchGate publication ID

23190717

0 references

 

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