The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 (Q24336477)

Activating transcription factor 4

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Centrosomal protein 290

1 reference

GOA release 2020-03-11

1 reference

Friedhelm Hildebrandt

42

0 references

Hans Christian Hennies

7

Hans Christian Hennies

0 references

Christopher J Wilkinson

Christopher J Wilkinson

22

0 references

Boris Utsch

Boris Utsch

11

0 references

Takehiro Kusakabe

Takehiro Kusakabe

16

0 references

Concepción Lillo

Concepcion Lillo

25

0 references

John A. Sayer

John A Sayer

1

0 references

Edgar A. Otto

Edgar A Otto

2

0 references

Anand Swaroop

Anand Swaroop

40

0 references

Massimo Attanasio

Massimo Attanasio

9

0 references

Erich Nigg

Erich A Nigg

23

0 references

Hemant Khanna

12

Hemant Khanna

0 references

Ronald G. Larson

20

Ronald G Larson

0 references

Peter Nürnberg

39

Peter Nurnberg

0 references

Andreas Kispert

33

Andreas Kispert

0 references

Gerd Walz

36

Gerd Walz

0 references

Iain A Drummond

14

Iain Drummond

0 references

Gudrun Nürnberg

4

Gudrun Nurnberg

0 references

Michel R Leroux

41

Michel R Leroux

0 references

Ian A Glass

31

Ian A Glass

0 references

Markus J. Kemper

28

Markus J Kemper

0 references

Juliana Helou

8

Juliana Helou

0 references

Motoyuki Tsuda

17

Motoyuki Tsuda

0 references

Isao Kawakami

15

Isao Kawakami

0 references

Chengchao Shou

24

Chengchao Shou

0 references

Melissa A Parisi

30

Melissa A Parisi

0 references

Athina Ganner

35

Athina Ganner

0 references

author name string

John F O'Toole

3

0 references

Michael A Kennedy

5

0 references

Christian Becker

6

0 references

Blake V Fausett

10

0 references

Yan Liu

13

0 references

Li Ma

18

0 references

Hwankyu Lee

19

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Susan J Allen

21

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David S Williams

26

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Bernd Hoppe

27

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Thomas Neuhaus

29

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Marianne Petry

32

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Joachim Gloy

34

0 references

Xueliang Zhu

37

0 references

Daniel Goldman

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

38

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language of work or name

English

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publication date

June 2006

0 references

published in

Nature Genetics

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volume

38

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issue

6

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page(s)

674-81

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cites work

1 reference

https://api.crossref.org/works/10.1038/NG1786

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

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1786

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

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1786

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

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1786

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

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1786

Proteomic characterization of the human centrosome by protein correlation profiling

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1786

The structure and function of SMC and kleisin complexes

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1786

Mitosin/CENP-F as a negative regulator of activating transcription factor-4

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1786

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1786

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

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1786

Molecular cloning of a tumor-associated antigen recognized by monoclonal antibody 3H11

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1786

Cytoplasmic dynein binds dynactin through a direct interaction between the intermediate chains and p150Glued

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1786

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

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1786

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

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1786

Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1786

Joubert syndrome: a review

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1786

7 January 2021

https://api.crossref.org/works/10.1038%2FNG1786

1 reference

7 January 2021

Linking cilia to Wnts

1 reference

https://api.crossref.org/works/10.1038%2FNG1786

7 January 2021

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

1 reference

https://api.crossref.org/works/10.1038%2FNG1786

7 January 2021

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1786

7 January 2021

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://api.crossref.org/works/10.1038%2FNG1786

7 January 2021

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

1 reference

https://api.crossref.org/works/10.1038%2FNG1786

7 January 2021

The vertebrate primary cilium is a sensory organelle

1 reference

https://api.crossref.org/works/10.1038%2FNG1786

7 January 2021

Molecular evidence from Ciona intestinalis for the evolutionary origin of vertebrate sensory placodes

1 reference

https://api.crossref.org/works/10.1038%2FNG1786

7 January 2021

Origin of the vertebrate visual cycle: genes encoding retinal photoisomerase and two putative visual cycle proteins are expressed in whole brain of a primitive chordate

1 reference

https://api.crossref.org/works/10.1038%2FNG1786

7 January 2021

In situ hybridization studies of retinal neurons

1 reference

https://api.crossref.org/works/10.1038%2FNG1786

7 January 2021

Monoclonal antibodies specific for an acetylated form of alpha-tubulin recognize the antigen in cilia and flagella from a variety of organisms

1 reference

https://api.crossref.org/works/10.1038%2FNG1786

7 January 2021

Identifiers

DOI

10.1038/NG1786

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1039313166

0 references

Fatcat ID

release_l2c7jjmhzrcvtgnjmqifjx2y3y

0 references

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

16682973

1 reference

Consolidated OpenCitations Corpus – April 2017