The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I F Qian, TJ Watnick, LF Onuchic, GG Germino Cell 87 (6), 979-987, 1996 | 744 | 1996 |
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription–factor domains and parallel … LF Onuchic, L Furu, Y Nagasawa, X Hou, T Eggermann, Z Ren, ... The American Journal of Human Genetics 70 (5), 1305-1317, 2002 | 595 | 2002 |
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology K Zerres, G Mücher, J Becker, C Steinkamm, S Rudnik‐Schöneborn, ... American journal of medical genetics 76 (2), 137-144, 1998 | 335 | 1998 |
Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells A Boletta, F Qian, LF Onuchic, AK Bhunia, B Phakdeekitcharoen, ... Molecular cell 6 (5), 1267-1273, 2000 | 270 | 2000 |
Polycystin: In vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein O Ibraghimov-Beskrovnaya, WR Dackowski, L Foggensteiner, N Coleman, ... Proceedings of the National Academy of Sciences 94 (12), 6397-6402, 1997 | 268 | 1997 |
Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease TJ Watnick, VE Torres, MA Gandolph, F Qian, LF Onuchic, KW Klinger, ... Molecular cell 2 (2), 247-251, 1998 | 247 | 1998 |
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1) C Bergmann, J Senderek, B Sedlacek, I Pegiazoglou, P Puglia, ... Journal of the American Society of Nephrology 14 (1), 76-89, 2003 | 240 | 2003 |
Identification of a novel cytokine, ML-1, and its expression in subjects with asthma M Kawaguchi, LF Onuchic, XD Li, DM Essayan, J Schroeder, HQ Xiao, ... The Journal of Immunology 167 (8), 4430-4435, 2001 | 233 | 2001 |
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) C Bergmann, J Senderek, F Küpper, F Schneider, C Dornia, E Windelen, ... Human mutation 23 (5), 453-463, 2004 | 199 | 2004 |
Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm LFC Menezes, Y Cai, Y Nagasawa, AMG Silva, ML Watkins, AM Da Silva, ... Kidney international 66 (4), 1345-1355, 2004 | 188 | 2004 |
Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development V Chauvet, F Qian, N Boute, Y Cai, B Phakdeekitacharoen, LF Onuchic, ... The American journal of pathology 160 (3), 973-983, 2002 | 161 | 2002 |
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations L Furu, LF Onuchic, ALI Gharavi, X Hou, EL Esquivel, Y Nagasawa, ... Journal of the American Society of Nephrology 14 (8), 2004-2014, 2003 | 145 | 2003 |
Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway MA Garcia-Gonzalez, LF Menezes, KB Piontek, J Kaimori, DL Huso, ... Human molecular genetics 16 (16), 1940-1950, 2007 | 140 | 2007 |
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts AM Sharp, LM Messiaen, G Page, C Antignac, MC Gubler, LF Onuchic, ... Journal of medical genetics 42 (4), 336-349, 2005 | 137 | 2005 |
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 … TC Burn, TD Connors, WR Dackowski, LR Petry, TJ Van Raay, ... Human molecular genetics 4 (4), 575-582, 1995 | 130 | 1995 |
Polyductin undergoes notch-like processing and regulated release from primary cilia J Kaimori, Y Nagasawa, LF Menezes, MA Garcia-Gonzalez, J Deng, ... Human molecular genetics 16 (8), 942-956, 2007 | 129 | 2007 |
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene Y Nagasawa, S Matthiesen, LF Onuchic, X Hou, C Bergmann, E Esquivel, ... Journal of the American Society of Nephrology 13 (9), 2246-2258, 2002 | 126 | 2002 |
Analysis of the genomic sequence for the autosomal dominant polycistic kidney disease gene (PKD1) predicts the presence of a luecine rich repeat Amreican PKD1 Consortium Hum Mol Genet 4, 575-582, 1995 | 125 | 1995 |
Pkd1 haploinsufficiency increases renal damage and induces microcyst formation following ischemia/reperfusion AP Bastos, K Piontek, AM Silva, D Martini, LF Menezes, JM Fonseca, ... Journal of the American Society of Nephrology 20 (11), 2389-2402, 2009 | 118 | 2009 |
Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1 AR Gallagher, EL Esquivel, TS Briere, X Tian, M Mitobe, LF Menezes, ... The American journal of pathology 172 (2), 417-429, 2008 | 97 | 2008 |