Current advances in molecular genetics of autosomal-dominant polycystic kidney disease

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Current opinion in nephrology and hypertension

• Publication date

  2001-01-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1097/00041552-200101000-00005PMID 11195048
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Autosomal dominant polycystic kidney disease.

  2010cited by this paper
• Molecular basis of autosomal-dominant polycystic kidney disease

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• Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice.

  2000cited by this paper
• Cloning and characterization of the murine pkd2 promoter.

  2000cited by this paper
• Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.

  2000cited by this paper
• Distinct and common developmental expression patterns of the murine Pkd2 and Pkd1 genes.

  2000cited by this paper
• Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

  2000cited by this paper
• Polycystin 1 is required for the structural integrity of blood vessels.

  2000cited by this paper
• Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene.

  2000cited by this paper
• The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton.

  2000cited by this paper
• Racial variation in autosomal dominant polycystic kidney disease.

  2000cited by this paper
• Apical plasma membrane mispolarization of NaK-ATPase in polycystic kidney disease epithelia is associated with aberrant expression of the beta2 isoform.

  2000cited by this paper
• Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.

  2000cited by this paper
• Abdominal sonographic study of autosomal dominant polycystic kidney disease

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• The pathogenesis of autosomal dominant polycystic kidney disease: an update.

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

  2000cited by this paper
• Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1.

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

  2000cited by this paper
• Location of mutations within the PKD2 gene influences clinical outcome.

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• Compromised Cytoarchitecture and Polarized Trafficking in Autosomal Dominant Polycystic Kidney Disease Cells

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

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• The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism

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• Reduced Pax2 gene dosage increases apoptosis and slows the progression of renal cystic disease.

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• Comparative genomics of the eukaryotes.

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

  1999cited by this paper
• Identification and Characterization of Polycystin-2, the PKD2 Gene Product*

  1999cited by this paper
• Polycystin-2 expression is developmentally regulated.

  1999cited by this paper
• Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.

  1999cited by this paper
• Familial phenotype differences in PKD11.

  1999cited by this paper
• A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans

  1999cited by this paper
• Polycystin-L is a calcium-regulated cation channel permeable to calcium ions

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• 14-3-3σ is required to prevent mitotic catastrophe after DNA damage

  1999cited by this paper
• Extrarenal manifestations of autosomal dominant polycystic kidney disease.

  1999cited by this paper
• The structure of a PKD domain from polycystin‐1: implications for polycystic kidney disease

  1999cited by this paper
• Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease.

  1999cited by this paper
• Long-term follow-up of a family with autosomal dominant polycystic kidney disease type 3.

  1999cited by this paper
• Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein.

  1999cited by this paper
• Murine Pkd1 is a developmentally regulated gene from morula to adulthood: Role in tissue condensation and patterning

  1999cited by this paper
• Frequency of ovarian cysts in patients with autosomal dominant polycystic kidney disease.

  1999cited by this paper
• Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins.

  1999cited by this paper
• Interaction between RGS7 and polycystin.

  1999cited by this paper
• The Polycystic Kidney Disease 1 Gene Product Modulates Wnt Signaling*

  1999cited by this paper
• A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

  1999cited by this paper
• The role of the polycystins in kidney development

  1999cited by this paper
• Murine Pkd1 introns 21 and 22 lack the extreme polypyrimidine bias present in human PKD1

  1999cited by this paper
• 14-3-3Sigma is required to prevent mitotic catastrophe after DNA damage.

  1999cited by this paper
• Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group.

  1999cited by this paper
• Molecular basis of autosomal dominant polycystic kidney disease.

  1999cited by this paper
• Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.

  1999cited by this paper
• Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

  1999cited by this paper
• Autosomal dominant polycystic kidney disease types 1 and 2: assessment of US sensitivity for diagnosis.

  1999cited by this paper
• Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue.

  1999cited by this paper
• Specific association of the gene product of PKD2 with the TRPC1 channel.

  1999cited by this paper
• PKD3-to be or not to be?

  1999cited by this paper
• Interaction between RGS 7 and polycystin ( protein – protein interaction y yeast two-hybrid system y polycystic kidney disease )

  1999cited by this paper
• Somatic inactivation of Pkd2 results in polycystic kidney disease.

  1998cited by this paper
• Identification of PKDL, a Novel Polycystic Kidney Disease 2-Like Gene Whose Murine Homologue Is Deleted in Mice with Kidney and Retinal Defects*

  1998cited by this paper
• Lifetime regulation of G protein-effector complex: emerging importance of RGS proteins.

  1998cited by this paper
• Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

  1998cited by this paper
• Is there a third gene for autosomal dominant polycystic kidney disease?

  1998cited by this paper
• Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.

  1998cited by this paper
• Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25.

  1998cited by this paper
• Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation

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• PKD1 interacts with PKD2 through a probable coiled-coil domain

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• Molecular cloning, cDNA sequence analysis, and chromosomal localization of mouse Pkd2.

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• The mouse homolog of PKD1: Sequence analysis and alternative splicing

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

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• Distribution and developmentally regulated expression of murine polycystin.

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• HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases.

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• The mouse homologue of the polycystic kidney disease gene (Pkd1) is a single-copy gene.

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

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• PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein

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• The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1

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

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• Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium).

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• 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.

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

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• Autosomal dominant polycystic kidney disease.

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• Genetic heterogeneity of polycystic kidney disease in Europe.

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• Extrarenal manifestations of autosomal dominant polycystic kidney disease.

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• Nephrology Dialysis Transplantation the Ace Insertion/deletion Polymorphism Has No Influence on Progression of Renal Function Loss in Autosomal Dominant Polycystic Kidney Disease

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