(Q36357916)

13 August 2017

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity (English)

1 reference

autosomal dominant polycystic kidney disease

13 August 2017

0 references

autosomal dominant polycystic kidney

1 reference

Katharina Hopp

1

1 reference

13 August 2017

Christopher J Ward

2

1 reference

13 August 2017

Cynthia J Hommerding

3

1 reference

13 August 2017

Samih H Nasr

4

1 reference

13 August 2017

Han-Fang Tuan

5

1 reference

13 August 2017

Vladimir G Gainullin

6

1 reference

13 August 2017

Sandro Rossetti

7

1 reference

13 August 2017

Vicente E Torres

8

1 reference

13 August 2017

Peter C Harris

9

1 reference

13 August 2017

language of work or name

English

0 references

publication date

15 October 2012

1 reference

Journal of Clinical Investigation

13 August 2017

1 reference

13 August 2017

122

1 reference

13 August 2017

4257-4273

1 reference

13 August 2017

11

1 reference

describes a project that uses

13 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3484456/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

A missense mutation in PKD1 attenuates the severity of renal disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Tolvaptan in autosomal dominant polycystic kidney disease: three years' experience

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Polycystin-1 is required for stereocilia structure but not for mechanotransduction in inner ear hair cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Fibrosis and progression of autosomal dominant polycystic kidney disease (ADPKD).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Association of PKD2 (polycystin 2) mutations with left-right laterality defects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Genetic variation of DKK3 may modify renal disease severity in ADPKD.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Evidence of extraordinary growth in the progressive enlargement of renal cysts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Variability in gene expression underlies incomplete penetrance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Hepato-renal pathology in pkd2ws25/- mice, an animal model of autosomal dominant polycystic kidney disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Conditional disruption of Pkd1 in osteoblasts results in osteopenia due to direct impairment of bone formation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Autosomal dominant polycystic kidney disease: the last 3 years

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Attenuated, flow-induced ATP release contributes to absence of flow-sensitive, purinergic Cai2+ signaling in human ADPKD cyst epithelial cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Mouse models of polycystic kidney disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Characterization of PKD protein-positive exosome-like vesicles

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Role of N-glycosylation in trafficking of apical membrane proteins in epithelia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Pkd1 inactivation induced in adulthood produces focal cystic disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Chemical and biological folding contribute to temperature-sensitive DeltaF508 CFTR trafficking

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Loss of polycystin-1 causes centrosome amplification and genomic instability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Vasopressin directly regulates cyst growth in polycystic kidney disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Defining a link with autosomal-dominant polycystic kidney disease in mice with congenitally low expression of Pkd1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Identification and proteomic profiling of exosomes in human urine

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Transmembrane Domain Analysis of Polycystin-1, the Product of the Polycystic Kidney Disease-1 (PKD1) Gene: Evidence for 11 Membrane-Spanning Domains

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

A highly efficient recombineering-based method for generating conditional knockout mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Tissue-specific expression and splicing of the rat polycystic kidney disease 1 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

PKD1 interacts with PKD2 through a probable coiled-coil domain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Phenotypic variability and incomplete penetrance of spontaneous fractures in an inbred strain of transgenic mice expressing a mutated collagen gene (COL1A1)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Proliferative activity of intrinsic cell populations in the normal human kidney.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Acquired cystic disease of the kidney analyzed by microdissection

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Hereditary polycystic kidney disease (adult form): a microdissection study of two cases at an early stage of the disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Primary cilia elongation in response to interleukin-1 mediates the inflammatory response.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Identification of signaling pathways regulating primary cilium length and flow-mediated adaptation

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Pkd1 haploinsufficiency increases renal damage and induces microcyst formation following ischemia/reperfusion

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

A combined SEM and TEM study on the basal labyrinth of the collecting duct in the rat kidney

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Glomerular and proximal tubule cysts as early manifestations of Pkd1 deletion

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Inhibition of tumor growth progression by antiandrogens and mTOR inhibitor in a Pten-deficient mouse model of prostate cancer

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

A mouse model for polycystic kidney disease through a somatic in-frame deletion in the 5' end of Pkd1.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Pkd1 regulates immortalized proliferation of renal tubular epithelial cells through p53 induction and JNK activation

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutant

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota: 1935-1980.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484456

Volume changes in autosomal dominant polycystic kidneys after the initiation of hemodialysis

22 September 2018

1 reference

12 December 2020

What is the role of somatic mutation in autosomal dominant polycystic kidney disease?

1 reference

12 December 2020

Polycystin-1 and -2 Dosage Regulates Pressure Sensing

1 reference

12 December 2020

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

1 reference

12 December 2020

Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort

1 reference

12 December 2020

Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation

1 reference

12 December 2020

Renal cilia display length alterations following tubular injury and are present early in epithelial repair

1 reference

12 December 2020

Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe

1 reference

12 December 2020

Lectin peroxidase conjugate reactivity in acquired cystic disease of the kidney

1 reference

12 December 2020

Progressive renal distortion by multiple cysts in transgenic mice expressing artificial microRNAs against Pkd1

1 reference

12 December 2020

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for aPKD2missense mutation due to uniparental disomy

1 reference

12 December 2020

Proximal tubular cysts in fetal human autosomal recessive 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

Left ventricular hypertrophy in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Somatic inactivation of Pkd2 results in polycystic kidney disease

1 reference

12 December 2020

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes

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

Cell proliferation in the developing human kidney

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12 December 2020

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

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12 December 2020

Volume progression in polycystic kidney disease

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12 December 2020

Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease

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12 December 2020

Autosomal dominant polycystic kidney disease

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12 December 2020

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

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12 December 2020

Identifiers

DOI

10.1172/JCI64313

1 reference

release_srpzwgi73nhfnglxa4bjrs35be

13 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/srpzwgi73nhfnglxa4bjrs35be

24 November 2022

mapped directly with Wikidata item

1 reference

13 August 2017

1 reference