(Q24309499)

GOA release 2020-03-11

RPGRIP1 like

1 reference

GOA release 2020-03-11

1 reference

34

0 references

Friedhelm Hildebrandt

0 references

Tania Attié-Bitach

26

0 references

Chris F. Inglehearn

21

Alejandro Estrada Cuzcano

Chris F Inglehearn

0 references

Alejandro Estrada-Cuzcano

4

0 references

Clare Victoria Logan

Clare V Logan

18

0 references

Edgar A. Otto

Edgar A Otto

28

0 references

Ian Macdonald

Ian MacDonald

13

0 references

Samuel G. Jacobson

Samuel G Jacobson

23

0 references

Anand Swaroop

Anand Swaroop

33

0 references

Hemant Khanna

1

Hemant Khanna

0 references

Donna Muzny

14

Donna M Muzny

0 references

Robert Koenekoop

32

Robert K Koenekoop

0 references

Irma López-Martínez

5

Irma Lopez

0 references

Anneke den Hollander

6

Anneke I den Hollander

0 references

Carlos A Murga-Zamalloa

3

Carlos A Murga-Zamalloa

0 references

Carsten Bergmann

24

Carsten Bergmann

0 references

Richard A Gibbs

31

Richard A Gibbs

0 references

David A. Wheeler

15

David A Wheeler

0 references

Lora Lewis

17

Lora R Lewis

0 references

Margaret B Morgan

16

Margaret Morgan

0 references

Naushin H Waseem

9

Naushin Waseem

0 references

Christina Chakarova

10

Christina F Chakarova

0 references

Shomi S Bhattacharya

29

Shomi S Bhattacharya

0 references

author name string

Erica E Davis

2

0 references

Marijke N Zonneveld

7

0 references

Mohammad I Othman

8

0 references

Cecilia Maubaret

11

0 references

Anna Diaz-Font

12

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Perciliz L Tan

19

0 references

Michael A Beer

20

0 references

Richard A Lewis

22

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Philip L Beales

25

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Colin A Johnson

full work available at URL

27

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language of work or name

English

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publication date

June 2009

0 references

http://eprints.whiterose.ac.uk/84056/

content deliverer

White Rose Research Online

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published in

Nature Genetics

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volume

41

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issue

6

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page(s)

739-45

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

The Ciliopathies: An Emerging Class of Human Genetic Disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

The proteome of the mouse photoreceptor sensory cilium complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

Beyond Mendel: an evolving view of human genetic disease transmission

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2783476

RPGR mutation analysis and disease: an update.

27 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.366

RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.366

21 January 2018

Identifiers

DOI

10.1038/NG.366

1 reference

Dimensions Publication ID

0 references

0 references

1053591273

0 references

1749715

1 reference

1 reference

1749715

PubMed publication ID

19430481

1 reference