NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis (Q24306642)

GOA release 2020-03-11

author

Friedhelm Hildebrandt

6

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Lynne Quarmby

5

object named as

Lynne M Quarmby

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Edgar A. Otto

object named as

Edgar A Otto

1

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Juliana Helou

4

object named as

Juliana Helou

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author name string

Melissa L Trapp

2

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Ulla T Schultheiss

Journal of the American Society of Nephrology

3

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language of work or name

English

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publication date

March 2008

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published in

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volume

19

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page(s)

587-92

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issue

3

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cites work

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

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

19 March 2017

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19 March 2017

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Cilia and the cell cycle?

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis

19 March 2017

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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

19 March 2017

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

19 March 2017

1 reference

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Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

19 March 2017

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

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27 September 2017

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Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors.

27 September 2017

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Murine models of polycystic kidney disease: molecular and therapeutic insights

27 September 2017

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Exploring the molecular basis of Bardet-Biedl syndrome

27 September 2017

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Mutational analysis in 119 families with nephronophthisis

27 September 2017

1 reference

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Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease.

29 November 2018

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29 November 2018

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A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish.

29 November 2018

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

29 November 2018

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