AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis (Q28509528)

GOA release 2020-03-11

Centrin 2

1 reference

GOA release 2020-03-11

Jouberin

1 reference

GOA release 2020-03-11

1 reference

10

0 references

Friedhelm Hildebrandt

22

0 references

Enza Maria Valente

23

Enza Maria Valente

0 references

Gianluca Caridi

2

Gianluca Caridi

1 reference

24 January 2017

Edgar A. Otto

8

0 references

Carmen Ayuso

Carmen Ayuso

16

0 references

Gian Marco Ghiggeri

Gian Marco Ghiggeri

21

0 references

Bruno Dallapiccola

Bruno Dallapiccola

20

0 references

Joseph G Gleeson

25

Joseph G. Gleeson

1 reference

24 January 2017

19

Robert K. Koenekoop

1 reference

24 January 2017

3

Vanda S. Lopes

1 reference

24 January 2017

5

Andreas Kispert

1 reference

24 January 2017

11

Irma Lopez

1 reference

24 January 2017

18

Anneke I. den Hollander

1 reference

24 January 2017

17

Frans P. M. Cremers

1 reference

24 January 2017

1

Carrie M. Louie

1 reference

24 January 2017

7

Andrew M. Schlossman

1 reference

24 January 2017

Francesco Brancati

4

1 reference

24 January 2017

Madeline A. Lancaster

6

1 reference

24 January 2017

Michael Leitges

9

1 reference

24 January 2017

Harini V. Gudiseva

12

1 reference

24 January 2017

John F. O'Toole

13

1 reference

24 January 2017

Elena Vallespin

14

1 reference

24 January 2017

Radha Ayyagari

15

1 reference

24 January 2017

David S. Williams

describes a project that uses

24

1 reference

24 January 2017

language of work or name

English

0 references

publication date

1 February 2010

1 reference

24 January 2017

1 reference

24 January 2017

42

1 reference

24 January 2017

2

1 reference

24 January 2017

175–180

1 reference

24 January 2017

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2884967/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Essential role of nephrocystin in photoreceptor intraflagellar transport in 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=2884967

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

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=2884967

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

AHI1 gene mutations cause specific forms of Joubert syndrome-related 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=2884967

Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

AHI1 mutations cause both retinal dystrophy and renal cystic disease in 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=2884967

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in 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=2884967

Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Expression of centrin isoforms in the mammalian retina

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Efficient in vivo manipulation of mouse genomic sequences at the zygote stage

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Prediction of deleterious human alleles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Photoreceptor IFT complexes containing chaperones, guanylyl cyclase 1 and rhodopsin.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Modeling ciliopathies: Primary cilia in development and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Leber congenital amaurosis: genes, proteins and disease mechanisms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Controlled expression of transgenes introduced by in vivo electroporation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

A role for rhodopsin in a signal transduction cascade that regulates membrane trafficking and photoreceptor polarity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

SNPs3D: candidate gene and SNP selection for association studies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Beyond counting photons: trials and trends in vertebrate visual transduction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Rhodopsin signaling and organization in heterozygote rhodopsin knockout mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Preventive versus treatment effect of AG3340, a potent matrix metalloproteinase inhibitor in a rat model of choroidal neovascularization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Electroporation and RNA interference in the rodent retina in vivo and in vitro

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Pax6 is required for the multipotent state of retinal progenitor cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Morphological, physiological, and biochemical changes in rhodopsin knockout mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Defective development of photoreceptor membranes in a mouse model of recessive retinal degeneration.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2884967

Retinopathy induced in mice by targeted disruption of the rhodopsin gene

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20081859

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.519

1 reference

1797479

1797479

1 reference

1 reference

1 reference