Liver and kidney disease in ciliopathies (Q24633724)

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English	Liver and kidney disease in ciliopathies	scientific article

Statements

instance of

scholarly article

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review article

1 reference

stated in

Europe PubMed Central

title

Liver and kidney disease in ciliopathies (English)

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main subject

kidney disease

1 reference

based on heuristic

inferred from title

author name string

Meral Gunay-Aygun

series ordinal

1

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language of work or name

English

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publication date

15 November 2009

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published in

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

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volume

151C

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issue

4

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page(s)

296-306

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cites work

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

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Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

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Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

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7 April 2017

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease

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7 April 2017

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

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7 April 2017

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

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7 April 2017

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

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7 April 2017

Mutations in SEC63 cause autosomal dominant polycystic liver disease

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Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease

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PubMed Central

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7 April 2017

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

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PubMed Central

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7 April 2017

Diseases of the intrahepatic biliary tree

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7 April 2017

Cholangiocyte cilia detect changes in luminal fluid flow and transmit them into intracellular Ca2+ and cAMP signaling

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7 April 2017

When cilia go bad: cilia defects and ciliopathies

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7 April 2017

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome

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27 September 2017

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

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PubMed Central

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27 September 2017

Advances in the pathogenesis and treatment of polycystic kidney disease

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27 September 2017

Ciliar functions in the nephron

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PubMed Central

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27 September 2017

Nephronophthisis: disease mechanisms of a ciliopathy

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27 September 2017

Polycystic kidney disease

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PubMed Central

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27 September 2017

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

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27 September 2017

Cholangiocyte primary cilia in liver health and disease

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27 September 2017

Volume progression in autosomal dominant polycystic kidney disease: the major factor determining clinical outcomes

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27 September 2017

Nephronophthisis-associated ciliopathies

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PubMed Central

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27 September 2017

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

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27 September 2017

Caroli's syndrome and adult polycystic kidney disease

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27 September 2017

Imaging findings in congenital hepatic fibrosis

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27 September 2017

Polycystic liver disease: multimodality imaging for complications and transplant evaluation

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27 September 2017

Renal cystic disease: new insights for the clinician

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27 September 2017

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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27 September 2017

Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD).

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27 September 2017

Renal cystic diseases: a review.

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27 September 2017

Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease

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27 September 2017

The hepatic fibrocystic diseases

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27 September 2017

Polycystic liver and kidney diseases

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27 September 2017

Successful combined liver and kidney transplant for COACH syndrome and 5-yr follow-up

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27 September 2017

New advances in evaluation and management of patients with polycystic liver disease

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27 September 2017

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

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27 September 2017

Polycystic liver disease is a disorder of cotranslational protein processing.

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27 September 2017

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

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27 September 2017

Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy).

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27 September 2017

Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes

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27 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

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Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome

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

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27 September 2017

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

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27 September 2017

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27 September 2017

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

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27 September 2017

Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.

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27 September 2017

Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders

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27 September 2017

Hepatic involvement in the Bardet-Biedl syndrome

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27 September 2017

Congenital hepatic fibrosis and nephronophthisis. A family study

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27 September 2017

Renal involvement in the Laurence-Moon-Biedl syndrome. Functional and radiological studies

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27 September 2017

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

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27 September 2017

The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome

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27 September 2017

Laurence-Moon-Biedl syndrome accompanied by congenital hepatic fibrosis

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27 September 2017

What is congenital hepatic fibrosis?

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27 September 2017

Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation"

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27 September 2017

The renal lesion of the Laurence-Moon-Biedl syndrome

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27 September 2017

Congenital hepatic fibrosis: the long-term prognosis

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27 September 2017

Intrahepatic cholangiocarcinoma arising in congenital hepatic fibrosis: report of an autopsy case

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30 May 2018

Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis

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30 May 2018

Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY

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30 May 2018

Early cirrhosis in survivors with Jeune thoracic dystrophy

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30 May 2018

Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins

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30 May 2018

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28 November 2018

Oral–facial–digital syndromes: Review and diagnostic guidelines

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28 November 2018

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28 November 2018

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

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28 November 2018

Autosomal Recessive Polycystic Kidney Disease: The Clinical Experience in North America

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28 November 2018

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

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28 November 2018

Autosomal recessive polycystic kidney disease in adulthood

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28 November 2018

Renal lesion in Jeune's syndrome.

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28 November 2018

Diseases of intrahepatic bile ducts

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PubMed Central

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28 November 2018

Autosomal Dominant Polycystic Kidney Disease Types 1 and 2: Assessment of US Sensitivity for Diagnosis

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12 December 2020

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Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid

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12 December 2020

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Renal-hepatic-pancreatic dysplasia: a broad entity

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12 December 2020

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A family with Jeune syndrome

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https://pubmed.ncbi.nlm.nih.gov/19876928

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12 December 2020

based on heuristic

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The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease

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12 December 2020

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Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families

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12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/19876928

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12 December 2020

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Polycystic kidney disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital hepatic fibrosis in children

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The importance of renal impairment in the natural history of Bardet-Biedl syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant polycystic kidney disease: a two-hit model

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital hepatic fibrosis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PATHOGENESIS OF POLYCYSTIC KIDNEYS. HISTORICAL SURVEY

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Management of polycystic liver disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ductal plate malformation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of carcinoma with congenital cystic conditions of the liver and bile ducts

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly"

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Postnatal investigation of fetal renal disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19876928

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.C.30225

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1002/AJMG.C.30225

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4831521

OpenCitations bibliographic resource ID

4831521

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4831521

PMC publication ID

2919058

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4831521

PubMed publication ID

19876928

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4831521

ResearchGate publication ID

38055368

0 references

 

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