Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2). (Q35661408)

From Wikidata

Jump to navigation Jump to search

scientific article published on May 2004

Language	Label	Description	Also known as
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

Statements

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

0 references

autosomal dominant polycystic kidney

1 reference

based on heuristic

inferred from title

author name string

Catherine Boucher

1

1 reference

Europe PubMed Central

9 August 2017

Richard Sandford

2

1 reference

Europe PubMed Central

9 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 May 2004

1 reference

Europe PubMed Central

9 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

9 August 2017

12

1 reference

Europe PubMed Central

9 August 2017

5

1 reference

Europe PubMed Central

9 August 2017

347-354

1 reference

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

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

21 January 2018

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

1 reference

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

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

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

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

Identifiers

10.1038/SJ.EJHG.5201162

1 reference

Europe PubMed Central

9 August 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

9 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35661408&oldid=1861452903"