(Q35661408)

English

Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).

scientific article published on May 2004

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scholarly article

1 reference

Europe PubMed Central

9 August 2017

Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2). (English)

1 reference

Europe PubMed Central

9 August 2017

autosomal dominant polycystic kidney disease

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autosomal dominant polycystic kidney

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based on heuristic

inferred from title

author name string

Catherine Boucher

1

1 reference

Europe PubMed Central

9 August 2017

Richard Sandford

2

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Europe PubMed Central

9 August 2017

language of work or name

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based on heuristic

inferred from title

publication date

1 May 2004

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Europe PubMed Central

9 August 2017

European Journal of Human Genetics

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Europe PubMed Central

9 August 2017

12

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Europe PubMed Central

9 August 2017

347-354

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Europe PubMed Central

9 August 2017

5

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Europe PubMed Central

9 August 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201162

0 references

Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Progression of autosomal-dominant polycystic kidney disease in children

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Renal asymmetry in children with autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Autosomal dominant polycystic kidney disease: new information for genetic counselling

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Insurance for autosomal dominant polycystic kidney disease patients prior to end-stage renal disease.

1 reference

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21 January 2018

Frequency and impact of autosomal dominant polycystic kidney disease in the Seychelles (Indian Ocean).

1 reference

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21 January 2018

Is there a third gene for autosomal dominant polycystic kidney disease?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

The sequence, expression, and chromosomal localization of a novel polycystic kidney disease 1-like gene, PKD1L1, in human

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Polycystin-2 is a novel cation channel implicated in defective intracellular Ca(2+) homeostasis in polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Polycystin-2 is an intracellular calcium release channel

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Cation channel regulation by COOH-terminal cytoplasmic tail of polycystin-1: mutational and functional analysis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Polycystin-1 activates and stabilizes the polycystin-2 channel.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Polycystin-1 activation of c-Jun N-terminal kinase and AP-1 is mediated by heterotrimeric G proteins

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Polycystin 1 is required for the structural integrity of blood vessels

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

The ion channel polycystin-2 is required for left-right axis determination in mice

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Cardiac and renal effects of standard versus rigorous blood pressure control in autosomal-dominant polycystic kidney disease: results of a seven-year prospective randomized study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Guidelines for management of hypertension: report of the third working party of the British Hypertension Society

1 reference

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21 January 2018

Diuretics versus angiotensin-converting enzyme inhibitors in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Screening a living kidney donor for polycystic kidney disease using heavily T2-weighted MRI.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Laparoscopic management of renal cystic disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Magnetic resonance measurements of renal blood flow as a marker of disease severity in autosomal-dominant polycystic kidney disease.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohort

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Relationship between renal volume growth and renal function in autosomal dominant polycystic kidney disease: a longitudinal study.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

21 January 2018

Abdominal sonographic study of autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

The prevalence of seminal vesicle cysts in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Intracranial aneurysms in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Evaluation of colonic diverticular disease in autosomal dominant polycystic kidney disease without end-stage renal disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal dominant polycystic kidney disease—type 2. Ultrasound, genetic and clinical correlations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

The diagnosis and prognosis of autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Natural history of acquired renal cystic disease in dialysis patients: a prospective longitudinal CT study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Dialysis-associated renal cystic disease resembling autosomal dominant polycystic kidney disease: a report of two cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Polycystic Disease of the Kidney

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI 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

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

A complete mutation screen of the ADPKD genes by DHPLC

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

The polycystic kidney disease 1 gene product mediates protein kinase C alpha-dependent and c-Jun N-terminal kinase-dependent activation of the transcription factor AP-1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Somatic inactivation of Pkd2 results in polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Epidemiological study of kidney survival in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Blood pressure and renal function in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Recurrence of intracranial aneurysms in autosomal-dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Attitudes of at-risk and affected individuals regarding presymptomatic testing for autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Treatment of polycystic kidney disease with a novel tyrosine kinase inhibitor

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201162

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1038/SJ.EJHG.5201162

1 reference

Europe PubMed Central

9 August 2017

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1 reference

Europe PubMed Central

9 August 2017

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