(Q57955396)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Vincent Morinière

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Georges Deschenes

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Sophie Saunier

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Corinne Antignac

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Kálmán Tory

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Caroline Rousset-Rouvière

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Audrey Pawtowski

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Céline Becker

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Claude Guyot

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Sophie Gié

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Yaacov Frishberg

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Hubert Nivet

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Pierre Cochat

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Marie-France Gagnadoux

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Rémi Salomon

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

language of work or name

English

0 references

publication date

28 January 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

75

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

839-847

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177160%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ki.2008.662

20 January 2020

exact match

0 references

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

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.2008.662

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.2008.662

7 January 2021

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

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.2008.662

7 January 2021

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

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

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

Evidence of Oligogenic Inheritance in Nephronophthisis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

Nephronophthisis and ulcerative colitis in siblings: a new association

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

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.2008.662

7 January 2021

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

Cardiopulmonary malformations in the inv/inv mouse.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

Prevalence of unsuspected and significant mitral and aortic regurgitation.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021

Prediction of human mRNA donor and acceptor sites from the DNA sequence

1 reference

https://api.crossref.org/works/10.1038%2FKI.2008.662

7 January 2021