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Polycystin-1: a master regulator of intersecting cystic pathways
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scholarly article
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PubMed
title
Polycystin-1: a master regulator of intersecting cystic pathways
(English)
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stated in
PubMed
author name string
Sorin V. Fedeles
series ordinal
1
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stated in
Crossref
Anna-Rachel Gallagher
series ordinal
2
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stated in
Crossref
Stefan Somlo
series ordinal
3
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stated in
Crossref
language of work or name
English
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stated in
PubMed
publication date
May 2014
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stated in
PubMed
published in
Trends in Molecular Medicine
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stated in
PubMed
volume
20
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stated in
PubMed
issue
5
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stated in
PubMed
page(s)
251-60
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stated in
PubMed
cites work
Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells
1 reference
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PubMed Central
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7 April 2017
Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm
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PubMed Central
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7 April 2017
PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
7 April 2017
The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1
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PubMed Central
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7 April 2017
Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
Structure of the EF-hand domain of polycystin-2 suggests a mechanism for Ca2+-dependent regulation of polycystin-2 channel activity
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
Molecular characterization of a novel mammalian DnaJ-like Sec63p homolog
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
Mutations in SEC63 cause autosomal dominant polycystic liver disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
7 April 2017
Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
7 April 2017
The primary cilium: a signalling centre during vertebrate development
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
7 April 2017
The primary cilium as a complex signaling center
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
7 April 2017
The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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7 April 2017
Type of PKD1 mutation influences renal outcome in ADPKD.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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28 September 2017
Proximal tubule proliferation is insufficient to induce rapid cyst formation after cilia disruption
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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28 September 2017
Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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28 September 2017
Role of human sec63 in modulating the steady-state levels of multi-spanning membrane proteins.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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28 September 2017
Cell polarity and cystic kidney disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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28 September 2017
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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28 September 2017
Finding the will and the way of ERAD substrate retrotranslocation
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PubMed Central
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28 September 2017
Can correcting the ΔF508-CFTR proteostasis-defect rescue CF lung disease?
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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28 September 2017
Calcium-induced conformational changes in C-terminal tail of polycystin-2 are necessary for channel gating
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Macromolecular assembly of polycystin-2 intracytosolic C-terminal domain.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Molecular advances in autosomal dominant polycystic kidney disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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28 September 2017
Protein processing and inflammatory signaling in Cystic Fibrosis: challenges and therapeutic strategies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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28 September 2017
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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28 September 2017
Loss of oriented cell division does not initiate cyst formation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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28 September 2017
Analysis of the cytoplasmic interaction between polycystin-1 and polycystin-2.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Glucosidase II beta subunit modulates N-glycan trimming in fission yeasts and mammals
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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28 September 2017
Renal injury is a third hit promoting rapid development of adult polycystic kidney disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Polycystic kidney disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Pkd1 inactivation induced in adulthood produces focal cystic disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
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28 September 2017
Domain mapping of the polycystin-2 C-terminal tail using de novo molecular modeling and biophysical analysis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Renal cystic diseases: diverse phenotypes converge on the cilium/centrosome complex
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Defining a link with autosomal-dominant polycystic kidney disease in mice with congenitally low expression of Pkd1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
The molecular mechanisms underlying BiP-mediated gating of the Sec61 translocon of the endoplasmic reticulum
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
A transcriptional network in polycystic kidney disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Transmembrane Domain Analysis of Polycystin-1, the Product of the Polycystic Kidney Disease-1 (PKD1) Gene: Evidence for 11 Membrane-Spanning Domains
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
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
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Identification and characterization of polycystin-2, the PKD2 gene product
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 September 2017
Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
31 May 2018
Pkd1 haploinsufficiency increases renal damage and induces microcyst formation following ischemia/reperfusion
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
31 May 2018
Pkd1 regulates immortalized proliferation of renal tubular epithelial cells through p53 induction and JNK activation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
31 May 2018
Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
19 June 2018
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 November 2018
Primary cilia and signaling pathways in mammalian development, health and disease.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 November 2018
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 November 2018
Defective planar cell polarity in polycystic kidney disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 November 2018
ERj1p uses a universal ribosomal adaptor site to coordinate the 80S ribosome at the membrane.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 November 2018
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 November 2018
Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 November 2018
A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 November 2018
Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 November 2018
The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4008641
retrieved
28 November 2018
Progressive renal distortion by multiple cysts in transgenic mice expressing artificial microRNAs against Pkd1
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24491980
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Oligomeric Rings of the Sec61p Complex Induced by Ligands Required for Protein Translocation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24491980
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24491980
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Dosage-sensitive network in polycystic kidney and liver disease: multiple mutations cause severe hepatic and neurological complications
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24491980
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Somatic inactivation of Pkd2 results in polycystic kidney disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24491980
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
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
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24491980
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24491980
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
It’s not all in the cilium, but on the road to it: Genetic interaction network in polycystic kidney and liver diseases and how trafficking and quality control matter
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24491980
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24491980
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Protein transport into the endoplasmic reticulum: mechanisms and pathologies
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24491980
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A quest for the mechanism regulating global planar cell polarity of tissues
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FJ.MOLMED.2014.01.004
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/J.MOLMED.2014.01.004
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4831518
OpenCitations bibliographic resource ID
4831518
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4831518
PMC publication ID
4008641
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4831518
PubMed publication ID
24491980
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4831518
ResearchGate publication ID
259716058
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