(Q36158232)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

polycystic kidney disease

1 January 2020

main subject

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Miguel A Garcia-Gonzalez

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Luis F Menezes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Klaus B Piontek

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Junya Kaimori

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

David L Huso

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Terry Watnick

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Lisa M Guay-Woodford

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

publication date

16 June 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

page(s)

1940-1950

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

Polyductin undergoes notch-like processing and regulated release from primary cilia

1 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Polycystin 2 interacts with type I inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

A transcriptional network in polycystic kidney disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Murine models of polycystic kidney disease: molecular and therapeutic insights

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Physiology, phylogeny, and functions of the TRP superfamily of cation channels

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

The polycystins: a novel class of membrane-associated proteins involved in renal cystic disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Specific association of the gene product of PKD2 with the TRPC1 channel

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Polycystic kidney disease: Etiology, pathogenesis, and treatment

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Causes of death in autosomal dominant polycystic kidney disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

What is congenital hepatic fibrosis?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Body growth in children with polycystic kidney disease. Arbeitsgemeinschaft für Pädiatrische Nephrologie.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Autosomal Recessive Polycystic Kidney Disease: The Clinical Experience in North America

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Epiblast-restricted Cre expression in MORE mice: a tool to distinguish embryonic vs. extra-embryonic gene function.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2085232

Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDM141

A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDM141

A simple method for volumetry of organs in quantitative stereology

21 January 2018

1 reference

12 December 2020

Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Recombinant human growth hormone therapy in autosomal recessive polycystic kidney disease

1 reference

12 December 2020

The neonate with adult-type autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Autosomal recessive polycystic kidney disease

1 reference

12 December 2020

Multiple intracranial aneurysms in a patient with autosomal recessive polycystic kidney disease

1 reference

12 December 2020

Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease

1 reference

12 December 2020

PATHOGENESIS OF POLYCYSTIC KIDNEYS. TYPE 1 DUE TO HYPERPLASIA OF INTERSTITIAL PORTIONS OF COLLECTING TUBULES

1 reference

12 December 2020

A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDM141

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

PubMed publication ID

17575307

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17575307%20AND%20SRC:MED&resulttype=core&format=json