Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models

[1]  M. Delgado-Rodríguez,et al.  Systematic review and meta-analysis. , 2017, Medicina intensiva.

[2]  T. Yokoo,et al.  A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease , 2015, Clinical genetics.

[3]  Tetsushi Sakuma,et al.  Precise Correction of the Dystrophin Gene in Duchenne Muscular Dystrophy Patient Induced Pluripotent Stem Cells by TALEN and CRISPR-Cas9 , 2014, Stem cell reports.

[4]  R. Serra,et al.  The role of matrix metalloproteinases and neutrophil gelatinase-associated lipocalin in central and peripheral arterial aneurysms. , 2015, Surgery.

[5]  P. Stather,et al.  Meta‐analysis and meta‐regression analysis of biomarkers for abdominal aortic aneurysm , 2014, The British journal of surgery.

[6]  Ajay V. Srivastava,et al.  Autosomal dominant polycystic kidney disease. , 2014, American family physician.

[7]  T. Ichisaka,et al.  Differentiation-defective phenotypes revealed by large-scale analyses of human pluripotent stem cells , 2013, Proceedings of the National Academy of Sciences.

[8]  C. Férec,et al.  Type of PKD1 mutation influences renal outcome in ADPKD. , 2013, Journal of the American Society of Nephrology : JASN.

[9]  P. Harris,et al.  The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD). , 2013, Current hypertension reviews.

[10]  H. Rennert,et al.  A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene. , 2012, The Journal of molecular diagnostics : JMD.

[11]  Lin Zou,et al.  Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease , 2011, BMC Medical Genetics.

[12]  M. Sone,et al.  Simple and Highly Efficient Method for Production of Endothelial Cells from Human Embryonic Stem Cells , 2011, Cell transplantation.

[13]  A. Algra,et al.  Prevalence of unruptured intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis , 2011, The Lancet Neurology.

[14]  Robert D. Brown,et al.  Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease. , 2011, Clinical journal of the American Society of Nephrology : CJASN.

[15]  Xibao Liu,et al.  Local Ca2+ Entry Via Orai1 Regulates Plasma Membrane Recruitment of TRPC1 and Controls Cytosolic Ca2+ Signals Required for Specific Cell Functions , 2011, PLoS biology.

[16]  C. Mei,et al.  Screening for Intracranial Aneurysm in 355 Patients With Autosomal-Dominant Polycystic Kidney Disease , 2011, Stroke.

[17]  K. Nakao,et al.  Sirt1 plays an important role in mediating greater functionality of human ES/iPS-derived vascular endothelial cells. , 2010, Atherosclerosis.

[18]  I. Drummond,et al.  The ADPKD genes pkd1a/b and pkd2 regulate extracellular matrix formation , 2010, Disease Models & Mechanisms.

[19]  M. DeRuiter,et al.  Pkd1-inactivation in vascular smooth muscle cells and adaptation to hypertension , 2010, Laboratory Investigation.

[20]  S. Suhr,et al.  Telomere Dynamics in Human Cells Reprogrammed to Pluripotency , 2009, PloS one.

[21]  F. Sachs,et al.  Polycystin-1 and -2 Dosage Regulates Pressure Sensing , 2009, Cell.

[22]  S. Nauli,et al.  Ciliary Polycystin-2 Is a Mechanosensitive Calcium Channel Involved in Nitric Oxide Signaling Cascades , 2009, Circulation research.

[23]  J. Balligand,et al.  PKD1 haploinsufficiency is associated with altered vascular reactivity and abnormal calcium signaling in the mouse aorta , 2009, Pflügers Archiv - European Journal of Physiology.

[24]  Jing Zhou,et al.  Endothelial Cilia Are Fluid Shear Sensors That Regulate Calcium Signaling and Nitric Oxide Production Through Polycystin-1 , 2008, Circulation.

[25]  Takashi Aoi,et al.  Generation of induced pluripotent stem cells without Myc from mouse and human fibroblasts , 2008, Nature Biotechnology.

[26]  T. Ichisaka,et al.  Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors , 2007, Cell.

[27]  T. Graf Faculty Opinions recommendation of Induction of pluripotent stem cells from adult human fibroblasts by defined factors. , 2007 .

[28]  S. Nishikawa,et al.  Pathway for Differentiation of Human Embryonic Stem Cells to Vascular Cell Components and Their Potential for Vascular Regeneration , 2007, Arteriosclerosis, thrombosis, and vascular biology.

[29]  M. DeRuiter,et al.  Pathogenic Sequence for Dissecting Aneurysm Formation in a Hypomorphic Polycystic Kidney Disease 1 Mouse Model , 2007, Arteriosclerosis, thrombosis, and vascular biology.

[30]  K. Nozaki,et al.  Role of TIMP-1 and TIMP-2 in the Progression of Cerebral Aneurysms , 2007, Stroke.

[31]  S. Nielsen,et al.  PKD1 haploinsufficiency causes a syndrome of inappropriate antidiuresis in mice. , 2007, Journal of the American Society of Nephrology : JASN.

[32]  Fredrik Lanner,et al.  Functional Arterial and Venous Fate Is Determined by Graded VEGF Signaling and Notch Status During Embryonic Stem Cell Differentiation , 2007, Arteriosclerosis, thrombosis, and vascular biology.

[33]  Angela Wandinger-Ness,et al.  Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling. , 2007, American journal of physiology. Renal physiology.

[34]  M. Riera,et al.  Transcriptome analysis of a rat PKD model: Importance of genes involved in extracellular matrix metabolism. , 2006, Kidney international.

[35]  D. Wallace,et al.  Calcium restores a normal proliferation phenotype in human polycystic kidney disease epithelial cells. , 2005, Journal of the American Society of Nephrology : JASN.

[36]  S. Somlo,et al.  [Ca2+]i Reduction Increases Cellular Proliferation and Apoptosis in Vascular Smooth Muscle Cells: Relevance to the ADPKD Phenotype , 2005, Circulation research.

[37]  Martijn H Breuning,et al.  Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. , 2004, Human molecular genetics.

[38]  M. DeRuiter,et al.  Lowering of Pkd 1 expression is sufficient to cause polycystic kidney disease , 2004 .

[39]  S. Somlo,et al.  Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells. , 2003, Human molecular genetics.

[40]  Jeffrey M Slezak,et al.  Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype , 2003, The Lancet.

[41]  Yuichiro Yamada,et al.  Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients , 2002, Human mutation.

[42]  S. Somlo,et al.  Polycystin-2 is an intracellular calcium release channel , 2002, Nature Cell Biology.

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

[44]  M. Berridge,et al.  The organisation and functions of local Ca(2+) signals. , 2001, Journal of cell science.

[45]  E. Brown,et al.  Polycystin-2 is a novel cation channel implicated in defective intracellular Ca(2+) homeostasis in polycystic kidney disease. , 2001, Biochemical and biophysical research communications.

[46]  N. Gretz,et al.  A possible role for metalloproteinases in renal cyst development. , 2001, American journal of physiology. Renal physiology.

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

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

[49]  G. Germino,et al.  Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents , 2000, Nature.

[50]  Jun Yamashita,et al.  Flk1-positive cells derived from embryonic stem cells serve as vascular progenitors , 2000, Nature.

[51]  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.

[52]  I. Ebihara,et al.  Elevation of Serum Levels of Metalloproteinase-1, Tissue Inhibitor of Metalloproteinase-1 and Type IV Collagen, and Plasma Levels of Metalloproteinase-9 in Polycystic Kidney Disease , 2000, American Journal of Nephrology.

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

[54]  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.

[55]  S. Somlo,et al.  Identification and Characterization of Polycystin-2, the PKD2 Gene Product* , 1999, The Journal of Biological Chemistry.

[56]  R. Sandford,et al.  Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. , 1999, American journal of human genetics.

[57]  J. Calvet,et al.  Matrix metalloproteinase-2 in a murine model of infantile-type polycystic kidney disease. , 1999, Journal of the American Society of Nephrology : JASN.

[58]  J. Thomson,et al.  Embryonic stem cell lines derived from human blastocysts. , 1998, Science.

[59]  D. Chyatte,et al.  Vascular extracellular matrix remodeling in cerebral aneurysms. , 1998, Journal of neurosurgery.

[60]  G. Germino,et al.  An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. , 1997, Human molecular genetics.

[61]  G. Germino,et al.  PKD1 interacts with PKD2 through a probable coiled-coil domain , 1997, Nature Genetics.

[62]  V. Torres,et al.  Vascular expression of polycystin. , 1997, Journal of the American Society of Nephrology : JASN.

[63]  L Kruglyak,et al.  Parametric and nonparametric linkage analysis: a unified multipoint approach. , 1996, American journal of human genetics.

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

[65]  F Matzkies,et al.  Tubular gelatinase A (MMP-2) and its tissue inhibitors in polycystic kidney disease in the Han:SPRD rat. , 1996, Kidney international.

[66]  R. Perrone,et al.  Matrix metalloproteinase activity in human intrahepatic biliary epithelial cell lines from patients with autosomal dominant polycystic kidney disease. , 1996, Connective tissue research.

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

[68]  P. Bork,et al.  Polycystic kidney disease: The complete structure of the PKD1 gene and its protein , 1995, Cell.

[69]  Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium. , 1995, Cell.

[70]  B. Sobel Extrarenal manifestations of autosomal dominant polycystic kidney disease. , 1992, Seminars in Nephrology.

[71]  W. D. Kaehny,et al.  Extrarenal manifestations of autosomal dominant polycystic kidney disease. , 1991, Seminars in nephrology.

[72]  Andrew P. McMahon,et al.  The Wnt-1 (int-1) proto-oncogene is required for development of a large region of the mouse brain , 1990, Cell.