Mutations of the human polycystic kidney disease 2 (PKD2) gene (Q28204836)

polycystic kidney disease

Europe PubMed Central

title

Mutations of the human polycystic kidney disease 2 (PKD2) gene (English)

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main subject

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based on heuristic

inferred from title

polycystic kidney disease 2

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C C Deltas

1

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language of work or name

English

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publication date

2001

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published in

Human Mutation

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volume

18

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issue

1

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page(s)

13-24

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cites work

A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes

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Cellular activation triggered by the autosomal dominant polycystic kidney disease gene product PKD2

21 January 2018

1 reference

Genetic heterogeneity of polycystic kidney disease in Bulgaria.

21 January 2018

1 reference

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis

21 January 2018

1 reference

Identification and characterization of polycystin-2, the PKD2 gene product

21 January 2018

1 reference

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

21 January 2018

1 reference

The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton

21 January 2018

1 reference

Modulation of epidermal growth factor receptor gene transcription by a polymorphic dinucleotide repeat in intron 1.

21 January 2018

1 reference

Polycystic kidney disease: neoplasia in disguise

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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Location of mutations within the PKD2 gene influences clinical outcome.

21 January 2018

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Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2)

21 January 2018

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Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.

21 January 2018

1 reference

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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New insights into the molecular pathophysiology of polycystic kidney disease

21 January 2018

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Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects

21 January 2018

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Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue.

21 January 2018

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

21 January 2018

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A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene

21 January 2018

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Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

21 January 2018

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

21 January 2018

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PKD1 interacts with PKD2 through a probable coiled-coil domain

21 January 2018

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Epidermal growth factor receptor activity mediates renal cyst formation in polycystic kidney disease

21 January 2018

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A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

21 January 2018

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

21 January 2018

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Specific association of the gene product of PKD2 with the TRPC1 channel

21 January 2018

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A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)

21 January 2018

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Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)

21 January 2018

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Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene

21 January 2018

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

21 January 2018

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

21 January 2018

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Cardiac defects and renal failure in mice with targeted mutations in Pkd2

21 January 2018

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Molecular genetics and mechanism of autosomal dominant polycystic kidney disease

21 January 2018

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

21 January 2018

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21 January 2018

PKD3—to be or not to be?

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Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells

21 January 2018

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Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients

21 January 2018

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Prognosis of adult onset polycystic kidney disease re-evaluated

21 January 2018

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Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

21 January 2018

1 reference

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

21 January 2018

1 reference

Long-term follow-up of a family with autosomal dominant polycystic kidney disease type 3

21 January 2018

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

21 January 2018

1 reference

Autosomal dominant polycystic kidney disease

21 January 2018

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A novel frameshift mutation (2436insT) produces an immediate stop codon in the autosomal dominant polycystic kidney disease 2 (PKD2) gene

21 January 2018

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Polymorphisms in the human autosomal dominant polycystic kidney disease 2 (PKD2) gene

21 January 2018

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Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23

21 January 2018

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Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1

21 January 2018

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

21 January 2018

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The diagnosis and prognosis of autosomal dominant polycystic kidney disease

21 January 2018

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Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

21 January 2018

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Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

21 January 2018

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Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease

21 January 2018

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Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients

21 January 2018

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An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

21 January 2018

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An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

21 January 2018

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Somatic inactivation of Pkd2 results in polycystic kidney disease

21 January 2018

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A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2)

21 January 2018

1 reference