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

[1]  Ann M. Johnson,et al.  Intracranial aneurysms in autosomal dominant polycystic kidney disease. , 1992, The New England journal of medicine.

[2]  W E Butler,et al.  Patients with polycystic kidney disease would benefit from routine magnetic resonance angiographic screening for intracerebral aneurysms: a decision analysis. , 1996, Neurosurgery.

[3]  Gregory R Pond,et al.  The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. , 2002, Journal of the American Society of Nephrology : JASN.

[4]  Ann M. Johnson,et al.  Familial clustering of ruptured intracranial aneurysms in autosomal dominant polycystic kidney disease. , 2001, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[5]  D. Wiebers,et al.  Follow-up of intracranial aneurysms in autosomal dominant polycystic kidney disease by magnetic resonance angiography. , 1996, Journal of the American Society of Nephrology : JASN.

[6]  J. Hughes,et al.  The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains , 1995, Nature Genetics.

[7]  G. Germino,et al.  Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[8]  X. Chen,et al.  Vascular expression of polycystin-2. , 1997, Journal of the American Society of Nephrology : JASN.

[9]  R. Kucherlapati,et al.  Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease , 1998, Cell.

[10]  D. Wiebers,et al.  Value of magnetic resonance angiography for the detection of intracranial aneurysms in autosomal dominant polycystic kidney disease. , 1993, Journal of the American Society of Nephrology : JASN.

[11]  K. Klinger,et al.  Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1. , 2000, Human molecular genetics.

[12]  K. Klinger,et al.  Polycystin 1 is required for the structural integrity of blood vessels. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[13]  R. Vanninen,et al.  Familial intracranial aneurysms , 1997, The Lancet.

[14]  M. Breuning,et al.  Intracranial aneurysms in polycystic kidney disease linked to chromosome 4. , 1995, Journal of the American Society of Nephrology : JASN.

[15]  D. Chauveau,et al.  Intracranial aneurysms in autosomal dominant polycystic kidney disease. , 1994, Kidney international.

[16]  K. Hofmann,et al.  A latrophilin/CL-1-like GPS domain in polycystin-1 , 1999, Current Biology.

[17]  L. Sandkuijl,et al.  Genetic heterogeneity of polycystic kidney disease in Europe. , 1992, Contributions to nephrology.

[18]  G. Germino,et al.  The Molecular Basis of Focal Cyst Formation in Human Autosomal Dominant Polycystic Kidney Disease Type I , 1996, Cell.

[19]  D. Wiebers,et al.  Saccular intracranial aneurysms in autosomal dominant polycystic kidney disease. , 1992, Journal of the American Society of Nephrology : JASN.

[20]  Ann M. Johnson,et al.  Causes of death in autosomal dominant polycystic kidney disease. , 1995, Journal of the American Society of Nephrology : JASN.

[21]  V. Torres,et al.  Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. , 2002, Journal of the American Society of Nephrology : JASN.

[22]  Lin Geng,et al.  Cardiac defects and renal failure in mice with targeted mutations in Pkd2 , 2000, Nature Genetics.

[23]  D. Wiebers,et al.  Intracranial arterial dolichoectasia in autosomal dominant polycystic kidney disease. , 1997, Journal of the American Society of Nephrology : JASN.

[24]  Patricia A. Gabow,et al.  PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein , 1996, Science.

[25]  K. Klinger,et al.  Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease. , 1999, American journal of human genetics.

[26]  A. Bakkaloğlu,et al.  Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. , 2001, American journal of human genetics.

[27]  P. Igarashi,et al.  Genetics and pathogenesis of polycystic kidney disease. , 2002, Journal of the American Society of Nephrology : JASN.

[28]  V. Torres,et al.  A complete mutation screen of the ADPKD genes by DHPLC. , 2002, Kidney international.

[29]  D. Chauveau,et al.  Spontaneous artery dissection: is it part of the spectrum of autosomal dominant polycystic kidney disease? , 1998, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.