(Q34052964)

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Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference

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scholarly article

1 reference

Europe PubMed Central

30 July 2017

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference (English)

1 reference

Europe PubMed Central

30 July 2017

congenital disorder

0 references

autosomal recessive polycystic kidney

0 references

1 reference

based on heuristic

inferred from title

Congenital hepatic fibrosis

1 reference

based on heuristic

inferred from title

4

object named as

Peter L Choyke

1 reference

Europe PubMed Central

30 July 2017

author name string

Meral Gunay-Aygun

1

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Europe PubMed Central

30 July 2017

Ellis D Avner

2

1 reference

Europe PubMed Central

30 July 2017

Robert L Bacallao

3

1 reference

Europe PubMed Central

30 July 2017

Joseph T Flynn

5

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30 July 2017

Gregory G Germino

6

1 reference

Europe PubMed Central

30 July 2017

Lisa Guay-Woodford

7

1 reference

Europe PubMed Central

30 July 2017

Peter Harris

8

1 reference

Europe PubMed Central

30 July 2017

Theo Heller

9

1 reference

Europe PubMed Central

30 July 2017

Julie Ingelfinger

10

1 reference

Europe PubMed Central

30 July 2017

Frederick Kaskel

11

1 reference

Europe PubMed Central

30 July 2017

Robert Kleta

12

1 reference

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30 July 2017

Nicholas F LaRusso

13

1 reference

Europe PubMed Central

30 July 2017

Parvathi Mohan

14

1 reference

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30 July 2017

Gregory J Pazour

15

1 reference

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30 July 2017

Benjamin L Shneider

16

1 reference

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30 July 2017

Vicente E Torres

17

1 reference

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30 July 2017

Patricia Wilson

18

1 reference

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30 July 2017

Colleen Zak

19

1 reference

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30 July 2017

Jing Zhou

20

1 reference

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30 July 2017

William A Gahl

21

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30 July 2017

language of work or name

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publication date

1 August 2006

1 reference

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30 July 2017

The Journal of Pediatrics

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30 July 2017

149

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2

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159-164

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30 July 2017

Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 July 2018

Fibrocystin interacts with CAML, a protein involved in Ca2+ signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 July 2018

Liver disease in autosomal recessive polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 July 2018

Diagnosis of cirrhosis by transient elastography (FibroScan): a prospective study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 July 2018

Prospects for urinary proteomics: exosomes as a source of urinary biomarkers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 July 2018

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 July 2018

Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 July 2018

Ludwig symposium on biliary disorders--part I. Pathogenesis of ductal plate abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 July 2018

Hepatobiliary fibropolycystic diseases. A clinical and histological review of 51 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 July 2018

Heightened epithelial Na+ channel-mediated Na+ absorption in a murine polycystic kidney disease model epithelium lacking apical monocilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 October 2018

Emerging therapies for polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 October 2018

Polycystins: polymodal receptor/ion-channel cellular sensors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 October 2018

Expression of components of the renin-angiotensin system in autosomal recessive polycystic kidney disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 October 2018

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 October 2018

Calcium signaling and polycystin-2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 October 2018

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 October 2018

EGF-related growth factors in the pathogenesis of murine ARPKD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 October 2018

Autosomal recessive polycystic kidney disease: outcomes from a single-center experience.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 October 2018

Kinesin Family Member 12 Is a Candidate Polycystic Kidney Disease Modifier in the cpk Mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 October 2018

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918414

28 October 2018

Polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16887426

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epidermal growth factor receptor tyrosine kinase inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/16887426

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cyclic AMP, at the hub of the cystic cycle

1 reference

https://pubmed.ncbi.nlm.nih.gov/16887426

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/16887426

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16887426

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16887426

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cyst fluid composition in human autosomal recessive polycystic kidney disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16887426

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16887426

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.JPEDS.2006.03.014

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

ResearchGate publication ID

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