(Q33947853)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

title

Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author

Giovambattista Capasso

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Peter Igarashi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Brunella Franco

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author name string

Alessandro Zullo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Daniela Iaconis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Adriano Barra

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Alessandra Cantone

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Nadia Messaddeq

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Pascal Dollé

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

publication date

5 May 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

issue

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

page(s)

2792-2803

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

The molecular basis of oral-facial-digital syndrome, type 1.

1 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Emerging evidence of a link between the polycystins and the mTOR pathways

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Bicaudal C, a novel regulator of Dvl signaling abutting RNA-processing bodies, controls cilia orientation and leftward flow.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Ciliary dysfunction in developmental abnormalities and diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Identification and characterization of a novel folliculin-interacting protein FNIP2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and men

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Polycystic kidney disease and the renal cilium.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Clinical proof-of-concept trial to assess the therapeutic effect of sirolimus in patients with autosomal dominant polycystic kidney disease: SUISSE ADPKD study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Role of primary cilia in the pathogenesis of polycystic kidney disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

The roles of cilia in developmental disorders and disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

The Ciliopathies: An Emerging Class of Human Genetic Disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

A transcriptional network in polycystic kidney disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Role of polycystins in renal tubulogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

The tuberous sclerosis complex (TSC) pathway and mechanism of size control

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Positional cloning of jcpk/bpk locus of the mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Inversin forms a complex with catenins and N-cadherin in polarized epithelial cells.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Evaluation of a patient with hypertension and mild renal failure in whom facial and digital abnormalities are noted

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Isolation of a protein target of the FKBP12-rapamycin complex in mammalian cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2893811

Inhibition of mTOR with sirolimus slows disease progression in Han:SPRD rats with autosomal dominant polycystic kidney disease (ADPKD).

5 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ180

Rapamycin markedly slows disease progression in a rat model of polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ180

Long-term rapamycin therapy in the Han:SPRD rat model of polycystic kidney disease (PKD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ180

Epithelial-specific Cre/lox recombination in the developing kidney and genitourinary tract.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ180

Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ180

Renal cysts of inv/inv mice resemble early infantile nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ180

Differences in renal tubule primary cilia length in a mouse model of Bardet-Biedl syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ180

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ180

Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ180

Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ180

Delayed cystogenesis and increased ciliogenesis associated with the re-expression of polaris in Tg737 mutant mice

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20444807

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Expression of Na-P(i) cotransport in rat kidney: localization by RT-PCR and immunohistochemistry

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20444807

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20444807

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDQ180

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20444807%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

PubMed publication ID

20444807

1 reference