A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs (Q57154207)

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23 April 2020

title

A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30235266 AND SRC:MED&resulttype=core&format=json

23 April 2020

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diffuse cystic renal dysplasia

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3

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23 April 2020

Mari S Lehti

5

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23 April 2020

Marjukka Anttila

8

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23 April 2020

author name string

Kati J Dillard

1

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23 April 2020

Marjo K Hytönen

2

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23 April 2020

Kimmo Tanhuanpää

4

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23 April 2020

Katri Vainio-Siukola

6

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23 April 2020

Anu Sironen

7

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23 April 2020

language of work or name

English

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publication date

20 September 2018

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23 April 2020

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23 April 2020

volume

13

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23 April 2020

issue

9

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23 April 2020

page(s)

e0204073

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Creative Commons Attribution 4.0 International

23 April 2020

copyright license

start time

20 September 2018

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane

2 November 2018

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Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

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Phosphatidylinositol phosphate kinase PIPKIγ and phosphatase INPP5E coordinate initiation of ciliogenesis

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Phosphoinositides Regulate Ciliary Protein Trafficking to Modulate Hedgehog Signaling

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A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease

2 November 2018

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Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects

2 November 2018

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Ciliopathies: the trafficking connection

2 November 2018

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A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence

2 November 2018

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6147468

The ciliary G-protein-coupled receptor Gpr161 negatively regulates the Sonic hedgehog pathway via cAMP signaling

2 November 2018

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Genetic variability of glutathione S-transferase enzymes in human populations: functional inter-ethnic differences in detoxification systems.

2 November 2018

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Phosphoinositide Phosphatases: Just as Important as the Kinases

2 November 2018

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A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers

2 November 2018

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Respiratory and general outcome in neonates with renal oligohydramnios--a single-centre experience

2 November 2018

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TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia

2 November 2018

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2 November 2018

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Congenital hepatic fibrosis in 5 dogs

2 November 2018

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2 November 2018

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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

2 November 2018

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INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

2 November 2018

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

2 November 2018

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Immunohistochemical and lectin dissection of the human nephron in health and disease.

2 November 2018

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Congenital hepatic fibrosis: the long-term prognosis

2 November 2018

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2 November 2018

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Polycystic disease of the kidney and liver in the Cairn Terrier

2 November 2018

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12 December 2020

Polycystic Kidney and Liver Disease in Two Related West Highland White Terrier Litters

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12 December 2020

Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease

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Polycystic kidney disease in bull terriers: an autosomal dominant inherited disorder

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12 December 2020

Congenital hepatic fibrosis

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12 December 2020

Localization of Canine, Feline, and Mouse Renal Membrane Proteins

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12 December 2020

Immunohistochemical Identification of Kidney Nephron Segments in the Dog, Rat, Mouse, and Cynomolgus Monkey

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12 December 2020

10.1371/JOURNAL.PONE.0204073

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30235266 AND SRC:MED&resulttype=core&format=json

23 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30235266 AND SRC:MED&resulttype=core&format=json

23 April 2020

PubMed publication ID

30235266

1 reference