(Q43143686)

14 November 2017

title

The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network (English)

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14 November 2017

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Martin Gerner

1

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14 November 2017

Ramachandran Haribaskar

2

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14 November 2017

Michael Pütz

3

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14 November 2017

Jacqueline Czerwitzki

4

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14 November 2017

Gerd Walz

5

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14 November 2017

Tobias Schäfer

6

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14 November 2017

language of work or name

English

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publication date

3 March 2010

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14 November 2017

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14 November 2017

volume

77

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14 November 2017

issue

10

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14 November 2017

page(s)

891-896

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Nephronophthisis-associated ciliopathies

14 November 2017

cites work

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https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

Nephronophthisis: disease mechanisms of a ciliopathy

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

Leber congenital amaurosis: genes, proteins and disease mechanisms

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

The retinal ciliopathies.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

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/10.1038%2FKI.2010.27

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

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/10.1038%2FKI.2010.27

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

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https://api.crossref.org/works/10.1038%2FKI.2010.27

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/10.1038%2FKI.2010.27

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

Identification of a novel protein interacting with RPGR.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

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/10.1038%2FKI.2010.27

7 January 2021

Focus on molecules: RPGRIP1

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https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

Molecular genetics of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

Protein networks and complexes in photoreceptor cilia.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

The subcellular localization of TRPP2 modulates its function

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

The Wilms tumor genes wt1a and wt1b control different steps during formation of the zebrafish pronephros.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2010.27

7 January 2021

Identifiers

DOI

10.1038/KI.2010.27

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Dimensions Publication ID

14 November 2017

1048189028

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