(Q24307506)

GOA release 2020-03-11

Nephrocystin 1

1 reference

GOA release 2020-03-11

signal transduction

1 reference

Juvenile nephronophthisis

GOA release 2020-03-11

1 reference

10

0 references

Sophie Saunier

11

0 references

Olivier Gribouval

object named as

Olivier Gribouval

3

0 references

Géraldine Mollet

object named as

Géraldine Mollet

1

0 references

author name string

Rémi Salomon

2

0 references

Flora Silbermann

4

0 references

Delphine Bacq

5

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Gilbert Landthaler

6

0 references

David Milford

7

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Ahmet Nayir

8

0 references

Gianfranco Rizzoni

Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis

9

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language of work or name

English

0 references

publication date

October 2002

0 references

published in

Nature Genetics

0 references

volume

32

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page(s)

300-5

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issue

2

0 references

cites work

1 reference

A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping

20 April 2017

1 reference

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

20 April 2017

1 reference

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

20 April 2017

1 reference

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

20 April 2017

1 reference

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

20 April 2017

1 reference

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

20 April 2017

1 reference

A comprehensive genetic map of the human genome based on 5,264 microsatellites

20 April 2017

1 reference

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

20 April 2017

1 reference

C. elegans cell-signalling gene sem-5 encodes a protein with SH2 and SH3 domains

20 April 2017

1 reference

Hereditary renal dysplasia and blindness

20 April 2017

1 reference

Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

21 January 2018

1 reference

Regulation of the epithelial sodium channel by serine proteases in human airways

21 January 2018

1 reference

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

21 January 2018

1 reference

Identification of a ten-amino acid proline-rich SH3 binding site

21 January 2018

1 reference

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

21 January 2018

1 reference

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

21 January 2018

1 reference

Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity

21 January 2018

1 reference

7 January 2021

Modulation of Rho and cytoskeletal protein attachment to membranes by a prenylcysteine analog

1 reference

7 January 2021

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

1 reference

7 January 2021

Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy

1 reference

7 January 2021