Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. (Q36559697)

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1 January 2020

title

Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1 (English)

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9

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8

Dhanpat Jain

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1 January 2020

author name string

Anna-Rachel Gallagher

1

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1 January 2020

Ernie L Esquivel

2

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Tiffany S Briere

3

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Xin Tian

4

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Michihiro Mitobe

5

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Luis F Menezes

6

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Glen S Markowitz

7

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Stefan Somlo

10

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language of work or name

English

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publication date

17 January 2008

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The American Journal of Pathology

1 January 2020

published in

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volume

172

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issue

2

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page(s)

417-429

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Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

1 January 2020

cites work

1 reference

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

30 September 2017

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

30 September 2017

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

30 September 2017

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Multimodality imaging of pancreatic and biliary congenital anomalies

30 September 2017

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

30 September 2017

1 reference

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Inhibition of Pkhd1 impairs tubulomorphogenesis of cultured IMCD cells

30 September 2017

1 reference

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

30 September 2017

1 reference

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Orpk mouse model of polycystic kidney disease reveals essential role of primary cilia in pancreatic tissue organization

30 September 2017

1 reference

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PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

30 September 2017

1 reference

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PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal 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=2312372

The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2312372

PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2312372

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=2312372

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like 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=2312372

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2312372

Cardiac defects and renal failure in mice with targeted mutations in Pkd2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2312372

Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2312372

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2312372

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=2312372

Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2312372

Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

30 September 2017

1 reference

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The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.

30 September 2017

1 reference

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Diseases of the intrahepatic biliary tree

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2312372

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

30 September 2017

1 reference

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

28 June 2018

1 reference

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Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

21 September 2018

1 reference

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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2312372

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

21 September 2018

1 reference

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

21 September 2018

1 reference

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

21 September 2018

1 reference

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Autosomal recessive polycystic kidney disease in adulthood

21 September 2018

1 reference

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The pck rat: a new model that resembles human autosomal dominant polycystic kidney and liver disease

21 September 2018

1 reference

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

21 September 2018

1 reference

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Chronic Portal Hypertension in the Rat by Triple-Portal Stenosing Ligation

4 December 2018

1 reference

12 December 2020

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

1 reference

12 December 2020

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

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12 December 2020

Portal vein ligation selectively lowers hepatic cytochrome P450 levels in rats

1 reference

12 December 2020

Autosomal recessive polycystic kidney disease

1 reference

12 December 2020

New mouse model for polycystic kidney disease with both recessive and dominant gene effects

1 reference

12 December 2020

Development of the intrahepatic biliary tree

1 reference

12 December 2020

Murine autosomal recessive polycystic kidney disease with multiorgan involvement induced by the cpk gene

1 reference

12 December 2020

Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors

1 reference

12 December 2020

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

1 reference

12 December 2020

Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association

1 reference

12 December 2020

10.2353/AJPATH.2008.070381

Identifiers

DOI

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1 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18202188 AND SRC:MED&resulttype=core&format=json

1 January 2020

PubMed publication ID

18202188

1 reference