(Q24312027)

GOA release 2020-03-11

author

Friedhelm Hildebrandt

4

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author name string

Weibin Zhou

1

0 references

Julie Dai

2

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Massimo Attanasio

American Journal of Physiology - Renal Physiology

3

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language of work or name

English

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publication date

July 2010

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published in

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volume

299

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issue

1

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page(s)

F55-62

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cites work

Functional genomic screen for modulators of ciliogenesis and cilium length

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

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=2904175

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

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=2904175

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=2904175

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=2904175

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

Inversin forms a complex with catenins and N-cadherin in polarized epithelial 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=2904175

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

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=2904175

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

The mouse homeobox gene Noto regulates node morphogenesis, notochordal ciliogenesis, and left right patterning

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

Nephronophthisis: disease mechanisms of a ciliopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

Restoration of renal function in zebrafish models of 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=2904175

Zebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

Nephronophthisis-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=2904175

Polycystin-2 immunolocalization and function in zebrafish

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in 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=2904175

Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

27 September 2017

Cilia-related diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

Non-canonical Wnt signalling and regulation of gastrulation movements

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

A simple methylene blue-azure II-basic fuchsin stain for epoxy-embedded tissue sections.

27 September 2017

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.00043.2010

Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.00043.2010

The zebrafishnodal-related genesouthpawis required for visceral and diencephalic left-right asymmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.00043.2010

Zebrafish curly up encodes a Pkd2 ortholog that restricts left-side-specific expression of southpaw

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.00043.2010

Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.00043.2010

A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.00043.2010

Molecular cloning and expression of phospholipase C epsilon 1 in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.00043.2010

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPRENAL.00043.2010

Regulation of midline development by antagonism of lefty and nodal signaling.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904175

Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20462968