Year |
Citation |
Score |
2023 |
Lin CC, Menezes LF, Qiu J, Pearson E, Zhou F, Ishimoto Y, Anderson DE, Germino GG. In vivo Polycystin-1 interactome using a novel Pkd1 knock-in mouse model. Plos One. 18: e0289778. PMID 37540694 DOI: 10.1371/journal.pone.0289778 |
0.373 |
|
2023 |
Ishimoto Y, Menezes LF, Zhou F, Yoshida T, Komori T, Qiu J, Young MF, Lu H, Potapova S, Outeda P, Watnick T, Germino GG. Novel ARPKD mouse model with near complete deletion of Polycystic Kidney and Hepatic Disease 1 (Pkhd1) genomic locus has multiple phenotypes but no renal cysts. Kidney International. PMID 37419448 DOI: 10.1016/j.kint.2023.05.027 |
0.314 |
|
2023 |
Qiu J, Germino GG, Menezes LF. Mechanisms of Cyst Development in Polycystic Kidney Disease. Advances in Kidney Disease and Health. 30: 209-219. PMID 37088523 DOI: 10.1053/j.akdh.2023.03.001 |
0.42 |
|
2019 |
Menezes LF, Germino GG. The pathobiology of polycystic kidney disease from a metabolic viewpoint. Nature Reviews. Nephrology. PMID 31488901 DOI: 10.1038/s41581-019-0183-y |
0.431 |
|
2017 |
Kaimori JY, Lin CC, Outeda P, Garcia-Gonzalez MA, Menezes LF, Hartung EA, Li A, Wu G, Fujita H, Sato Y, Nakanuma Y, Yamamoto S, Ichimaru N, Takahara S, Isaka Y, ... ... Germino GG, et al. NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology. Scientific Reports. 7: 7733. PMID 28798345 DOI: 10.1038/S41598-017-08284-4 |
0.366 |
|
2017 |
Outeda P, Menezes L, Hartung EA, Bridges S, Zhou F, Zhu X, Xu H, Huang Q, Yao Q, Qian F, Germino GG, Watnick T. A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism. Kidney International. PMID 28729032 DOI: 10.1016/j.kint.2017.04.027 |
0.4 |
|
2016 |
Menezes LF, Lin CC, Zhou F, Germino GG. Fatty Acid Oxidation is Impaired in An Orthologous Mouse Model of Autosomal Dominant Polycystic Kidney Disease. Ebiomedicine. 5: 183-92. PMID 27077126 DOI: 10.1016/j.ebiom.2016.01.027 |
0.437 |
|
2014 |
Boddu R, Yang C, O'Connor AK, Hendrickson RC, Boone B, Cui X, Garcia-Gonzalez M, Igarashi P, Onuchic LF, Germino GG, Guay-Woodford LM. Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1. Journal of Molecular Medicine (Berlin, Germany). 92: 1045-56. PMID 24984783 DOI: 10.1007/S00109-014-1185-7 |
0.395 |
|
2014 |
Ferraz RR, Fonseca JM, Germino GG, Onuchic LF, Heilberg IP. Determination of urinary lithogenic parameters in murine models orthologous to autosomal dominant polycystic kidney disease. Urolithiasis. 42: 301-7. PMID 24817661 DOI: 10.1007/s00240-014-0664-1 |
0.361 |
|
2014 |
Outeda P, Huso DL, Fisher SA, Halushka MK, Kim H, Qian F, Germino GG, Watnick T. Polycystin signaling is required for directed endothelial cell migration and lymphatic development. Cell Reports. 7: 634-44. PMID 24767998 DOI: 10.1016/J.Celrep.2014.03.064 |
0.351 |
|
2014 |
Rowe I, Chiaravalli M, Piontek KB, Germino GG, Boletta A. Impaired glomerulogenesis and endothelial cell migration in Pkd1-deficient renal organ cultures. Biochemical and Biophysical Research Communications. 444: 473-9. PMID 24472557 DOI: 10.1016/j.bbrc.2014.01.068 |
0.466 |
|
2014 |
Liu D, Wang CJ, Judge DP, Halushka MK, Ni J, Habashi JP, Moslehi J, Bedja D, Gabrielson KL, Xu H, Qian F, Huso D, Dietz HC, Germino GG, Watnick T. A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease. Journal of the American Society of Nephrology : Jasn. 25: 81-91. PMID 24071006 DOI: 10.1681/Asn.2012050486 |
0.375 |
|
2013 |
Menezes LF, Germino GG. Murine Models of Polycystic Kidney Disease. Drug Discovery Today. Disease Mechanisms. 10: e153-e158. PMID 25013443 DOI: 10.1016/j.ddmec.2013.10.002 |
0.303 |
|
2012 |
Menezes LF, Zhou F, Patterson AD, Piontek KB, Krausz KW, Gonzalez FJ, Germino GG. Network analysis of a Pkd1-mouse model of autosomal dominant polycystic kidney disease identifies HNF4α as a disease modifier. Plos Genetics. 8: e1003053. PMID 23209428 DOI: 10.1371/journal.pgen.1003053 |
0.482 |
|
2012 |
Foy RL, Chitalia VC, Panchenko MV, Zeng L, Lopez D, Lee JW, Rana SV, Boletta A, Qian F, Tsiokas L, Piontek KB, Germino GG, Zhou MI, Cohen HT. Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1. Human Molecular Genetics. 21: 5456-71. PMID 23001567 DOI: 10.1093/Hmg/Dds391 |
0.333 |
|
2012 |
Wachi T, Yoshida N, Funae Y, Ueno M, Germino GG, Hirotsune S, Deguchi N. Progesterone induced mesenchymal differentiation and rescued cystic dilation of renal tubules of Pkd1(-/-) mice. Biochemical and Biophysical Research Communications. 425: 212-8. PMID 22835934 DOI: 10.1016/j.bbrc.2012.07.070 |
0.467 |
|
2012 |
Pei Y, Lan Z, Wang K, Garcia-Gonzalez M, He N, Dicks E, Parfrey P, Germino G, Watnick T. A missense mutation in PKD1 attenuates the severity of renal disease. Kidney International. 81: 412-7. PMID 22031115 DOI: 10.1038/Ki.2011.370 |
0.498 |
|
2011 |
Steigelman KA, Lelli A, Wu X, Gao J, Lin S, Piontek K, Wodarczyk C, Boletta A, Kim H, Qian F, Germino G, Géléoc GS, Holt JR, Zuo J. Polycystin-1 is required for stereocilia structure but not for mechanotransduction in inner ear hair cells. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 12241-50. PMID 21865467 DOI: 10.1523/Jneurosci.6531-10.2011 |
0.45 |
|
2011 |
Paul BM, Vassmer D, Taylor A, Magenheimer L, Carlton CG, Piontek KB, Germino GG, Vanden Heuvel GB. Ectopic expression of Cux1 is associated with reduced p27 expression and increased apoptosis during late stage cyst progression upon inactivation of Pkd1 in collecting ducts. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 240: 1493-501. PMID 21465620 DOI: 10.1002/Dvdy.22625 |
0.377 |
|
2011 |
Miller MM, Iglesias DM, Zhang Z, Corsini R, Chu L, Murawski I, Gupta I, Somlo S, Germino GG, Goodyer PR. T-cell factor/β-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease. Kidney International. 80: 146-53. PMID 21389971 DOI: 10.1038/Ki.2011.56 |
0.323 |
|
2010 |
Garcia-Gonzalez MA, Outeda P, Zhou Q, Zhou F, Menezes LF, Qian F, Huso DL, Germino GG, Piontek KB, Watnick T. Pkd1 and Pkd2 are required for normal placental development. Plos One. 5. PMID 20862291 DOI: 10.1371/Journal.Pone.0012821 |
0.42 |
|
2010 |
Gallagher AR, Germino GG, Somlo S. Molecular advances in autosomal dominant polycystic kidney disease. Advances in Chronic Kidney Disease. 17: 118-30. PMID 20219615 DOI: 10.1053/J.Ackd.2010.01.002 |
0.527 |
|
2010 |
Shillingford JM, Piontek KB, Germino GG, Weimbs T. Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1. Journal of the American Society of Nephrology : Jasn. 21: 489-97. PMID 20075061 DOI: 10.1681/Asn.2009040421 |
0.395 |
|
2009 |
Raphael KL, Strait KA, Stricklett PK, Baird BC, Piontek K, Germino GG, Kohan DE. Effect of pioglitazone on survival and renal function in a mouse model of polycystic kidney disease American Journal of Nephrology. 30: 468-473. PMID 19776560 DOI: 10.1159/000242432 |
0.36 |
|
2009 |
Distefano G, Boca M, Rowe I, Wodarczyk C, Ma L, Piontek KB, Germino GG, Pandolfi PP, Boletta A. Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1. Molecular and Cellular Biology. 29: 2359-71. PMID 19255143 DOI: 10.1128/Mcb.01259-08 |
0.316 |
|
2009 |
Raphael KL, Strait KA, Stricklett PK, Miller RL, Nelson RD, Piontek KB, Germino GG, Kohan DE. Inactivation of Pkd1 in principal cells causes a more severe cystic kidney disease than in intercalated cells. Kidney International. 75: 626-33. PMID 19145237 DOI: 10.1038/ki.2008.659 |
0.375 |
|
2008 |
Menezes LF, Piontek K, Colantuoni C, Patterson S, Bader J, Germino GG. 165: Establishing a Framework to Infer Gene Regulatory Networks for Kidney Development American Journal of Kidney Diseases. 51: B69. DOI: 10.1053/J.Ajkd.2008.02.174 |
0.392 |
|
2007 |
Yu S, Hackmann K, Gao J, Gao J, He X, Piontek K, García-González MA, García González MA, Menezes LF, Xu H, Germino GG, Zuo J, Qian F. Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure. Proceedings of the National Academy of Sciences of the United States of America. 104: 18688-93. PMID 18003909 DOI: 10.1073/pnas.0708217104 |
0.361 |
|
2007 |
Piontek K, Menezes LF, Garcia-Gonzalez MA, Huso DL, Germino GG. A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1. Nature Medicine. 13: 1490-5. PMID 17965720 DOI: 10.1038/nm1675 |
0.481 |
|
2007 |
Garcia-Gonzalez MA, Menezes LF, Piontek KB, Kaimori J, Huso DL, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG. Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Human Molecular Genetics. 16: 1940-50. PMID 17575307 DOI: 10.1093/Hmg/Ddm141 |
0.457 |
|
2007 |
Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK, Lan Z, Allen E, Qian F, Lens XM, Pei Y, Germino GG, Watnick TJ. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. Molecular Genetics and Metabolism. 92: 160-7. PMID 17574468 DOI: 10.1016/J.Ymgme.2007.05.004 |
0.693 |
|
2007 |
Wei W, Hackmann K, Xu H, Germino G, Qian F. Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene. The Journal of Biological Chemistry. 282: 21729-37. PMID 17525154 DOI: 10.1074/Jbc.M703218200 |
0.482 |
|
2007 |
Kaimori JY, Nagasawa Y, Menezes LF, Garcia-Gonzalez MA, Deng J, Imai E, Onuchic LF, Guay-Woodford LM, Germino GG. Polyductin undergoes notch-like processing and regulated release from primary cilia. Human Molecular Genetics. 16: 942-56. PMID 17470460 DOI: 10.1093/Hmg/Ddm039 |
0.321 |
|
2007 |
Raphael K, Strait K, Stricklett PK, Miller L, Piontek K, Germino G, Kohan DK. Collecting duct‐specific knockout of the Pkd1 gene causes selective renal cystic disease The Faseb Journal. 21. DOI: 10.1096/Fasebj.21.5.A505-A |
0.543 |
|
2006 |
Ikeda M, Fong P, Cheng J, Boletta A, Qian F, Zhang XM, Cai H, Germino GG, Guggino WB. A regulatory role of polycystin-1 on cystic fibrosis transmembrane conductance regulator plasma membrane expression. Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology. 18: 9-20. PMID 16914886 DOI: 10.1159/000095133 |
0.318 |
|
2006 |
Shillingford JM, Murcia NS, Larson CH, Low SH, Hedgepeth R, Brown N, Flask CA, Novick AC, Goldfarb DA, Kramer-Zucker A, Walz G, Piontek KB, Germino GG, Weimbs T. The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proceedings of the National Academy of Sciences of the United States of America. 103: 5466-71. PMID 16567633 DOI: 10.1073/Pnas.0509694103 |
0.349 |
|
2005 |
Hackmann K, Markoff A, Qian F, Bogdanova N, Germino GG, Pennekamp P, Dworniczak B, Horst J, Gerke V. A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1. Human Molecular Genetics. 14: 3249-62. PMID 16192288 DOI: 10.1093/hmg/ddi356 |
0.454 |
|
2005 |
Irizarry RA, Warren D, Spencer F, Kim IF, Biswal S, Frank BC, Gabrielson E, Garcia JG, Geoghegan J, Germino G, Griffin C, Hilmer SC, Hoffman E, Jedlicka AE, Kawasaki E, et al. Multiple-laboratory comparison of microarray platforms. Nature Methods. 2: 345-50. PMID 15846361 DOI: 10.1038/Nmeth756 |
0.361 |
|
2005 |
Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts Journal of Medical Genetics. 42: 336-349. PMID 15805161 DOI: 10.1136/Jmg.2004.024489 |
0.425 |
|
2004 |
Piontek KB, Huso DL, Grinberg A, Liu L, Bedja D, Zhao H, Gabrielson K, Qian F, Mei C, Westphal H, Germino GG. A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo. Journal of the American Society of Nephrology : Jasn. 15: 3035-43. PMID 15579506 DOI: 10.1097/01.Asn.0000144204.01352.86 |
0.418 |
|
2004 |
Menezes LF, Cai Y, Nagasawa Y, Silva AM, Watkins ML, Da Silva AM, Somlo S, Guay-Woodford LM, Germino GG, Onuchic LF. Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm. Kidney International. 66: 1345-55. PMID 15458427 DOI: 10.1111/J.1523-1755.2004.00844.X |
0.355 |
|
2004 |
Bergmann C, Senderek J, Küpper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, ... Germino GG, et al. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Human Mutation. 23: 453-63. PMID 15108277 DOI: 10.1002/Humu.20029 |
0.366 |
|
2003 |
Boletta A, Germino GG. Role of polycystins in renal tubulogenesis. Trends in Cell Biology. 13: 484-92. PMID 12946628 |
0.373 |
|
2003 |
Watnick T, Germino G. From cilia to cyst. Nature Genetics. 34: 355-6. PMID 12923538 DOI: 10.1038/Ng0803-355 |
0.369 |
|
2003 |
Furu L, Onuchic LF, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Bergmann C, Senderek J, Avner E, Zerres K, Germino GG, Guay-Woodford LM, Somlo S. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. Journal of the American Society of Nephrology : Jasn. 14: 2004-14. PMID 12874454 DOI: 10.1097/01.Asn.0000078805.87038.05 |
0.358 |
|
2003 |
Sutters M, Germino GG. Autosomal dominant polycystic kidney disease: molecular genetics and pathophysiology. The Journal of Laboratory and Clinical Medicine. 141: 91-101. PMID 12577044 DOI: 10.1067/mlc.2003.13 |
0.433 |
|
2003 |
Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schöneborn S, Furu L, Onuchic LF, De Baca M, Germino GG, Guay-Woodford L, Somlo S, Moser M, Büttner R, et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Journal of the American Society of Nephrology : Jasn. 14: 76-89. PMID 12506140 DOI: 10.1097/01.Asn.0000039578.55705.6E |
0.326 |
|
2002 |
Qian F, Boletta A, Bhunia AK, Xu H, Liu L, Ahrabi AK, Watnick TJ, Zhou F, Germino GG. Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. Proceedings of the National Academy of Sciences of the United States of America. 99: 16981-6. PMID 12482949 DOI: 10.1073/pnas.252484899 |
0.382 |
|
2002 |
Nagasawa Y, Matthiesen S, Onuchic LF, Hou X, Bergmann C, Esquivel E, Senderek J, Ren Z, Zeltner R, Furu L, Avner E, Moser M, Somlo S, Guay-Woodford L, Büttner R, ... ... Germino GG, et al. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. Journal of the American Society of Nephrology : Jasn. 13: 2246-58. PMID 12191969 DOI: 10.1097/01.Asn.0000030392.19694.9D |
0.442 |
|
2002 |
Onuchic LF, Mrug M, Hou X, Eggermann T, Bergmann C, Zerres K, Avner ED, Furu L, Somlo S, Nagasawa Y, Germino GG, Guay-Woodford LM. Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene. American Journal of Medical Genetics. 110: 346-52. PMID 12116208 DOI: 10.1002/Ajmg.10468 |
0.512 |
|
2002 |
Bhunia AK, Piontek K, Boletta A, Liu L, Qian F, Xu PN, Germino FJ, Germino GG. PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2. Cell. 109: 157-68. PMID 12007403 |
0.411 |
|
2002 |
Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schöneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, ... ... Germino GG, et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. American Journal of Human Genetics. 70: 1305-17. PMID 11898128 DOI: 10.1086/340448 |
0.45 |
|
2002 |
Chauvet V, Qian F, Boute N, Cai Y, Phakdeekitacharoen B, Onuchic LF, Attié-Bitach T, Guicharnaud L, Devuyst O, Germino GG, Gubler MC. Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. The American Journal of Pathology. 160: 973-83. PMID 11891195 DOI: 10.1016/S0002-9440(10)64919-X |
0.488 |
|
2002 |
Boletta A, Qian F, Onuchic LF, Bhunia AK, Phakdeekitcharoen B, Hanaoka K, Guggino W, Monaco L, Germino GG. Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells. Molecular Cell. 6: 1267-73. PMID 11106764 DOI: 10.1016/S1097-2765(00)00123-4 |
0.394 |
|
2001 |
Boletta A, Qian F, Onuchic LF, Bragonzi A, Cortese M, Deen PM, Courtoy PJ, Soria MR, Devuyst O, Monaco L, Germino GG. Biochemical characterization of bona fide polycystin-1 in vitro and in vivo American Journal of Kidney Diseases. 38: 1421-1429. PMID 11728985 DOI: 10.1053/AJKD.2001.29282 |
0.35 |
|
2001 |
Kawaguchi M, Onuchic LF, Li X, Essayan DM, Schroeder J, Xiao H, Liu MC, Krishnaswamy G, Germino G, Huang S. Identification of a novel cytokine, ML-1, and its expression in subjects with asthma. Journal of Immunology. 167: 4430-4435. PMID 11591768 DOI: 10.4049/Jimmunol.167.8.4430 |
0.337 |
|
2001 |
Phakdeekitcharoen B, Watnick TJ, Germino GG. Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. Journal of the American Society of Nephrology : Jasn. 12: 955-63. PMID 11316854 |
0.347 |
|
2001 |
Pei Y, Paterson AD, Wang KR, He N, Hefferton D, Watnick T, Germino GG, Parfrey P, Somlo S, St George-Hyslop P. Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. American Journal of Human Genetics. 68: 355-63. PMID 11156533 DOI: 10.1086/318188 |
0.407 |
|
2001 |
Hanaoka K, Qian F, Boletta A, Bhunia AK, Piontek K, Tsiokas L, Sukhatme VP, Guggino WB, Germino GG. Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents. Nature. 408: 990-4. PMID 11140688 DOI: 10.1038/35050128 |
0.344 |
|
2000 |
Phakdeekitcharoen B, Watnick TJ, Ahn C, Whang DY, Burkhart B, Germino GG. Thirteen novel mutations of the replicated region of PKD1 in an Asian population. Kidney International. 58: 1400-12. PMID 11012875 DOI: 10.1046/j.1523-1755.2000.00302.x |
0.34 |
|
2000 |
Watnick T, He N, Wang K, Liang Y, Parfrey P, Hefferton D, St George-Hyslop P, Germino G, Pei Y. Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. Nature Genetics. 25: 143-4. PMID 10835625 DOI: 10.1038/75981 |
0.442 |
|
2000 |
Hofmann Y, Becker J, Wright F, Avner ED, Mrug M, Guay-Woodford LM, Somlo S, Zerres K, Germino GG, Onuchic LF. Genomic structure of the gene for the human p1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease European Journal of Human Genetics. 8: 163-166. PMID 10780780 DOI: 10.1038/Sj.Ejhg.5200426 |
0.405 |
|
1999 |
Onuchic LF, Mrug M, Lakings AL, Muecher G, Becker J, Zerres K, Avner ED, Dixit M, Somlo S, Germino GG, Guay-Woodford LM. Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene Mammalian Genome. 10: 1175-1178. PMID 10594243 DOI: 10.1007/S003359901186 |
0.461 |
|
1999 |
Watnick T, Phakdeekitcharoen B, Johnson A, Gandolph M, Wang M, Briefel G, Klinger KW, Kimberling W, Gabow P, Germino GG. Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease. American Journal of Human Genetics. 65: 1561-71. PMID 10577909 DOI: 10.1086/302657 |
0.408 |
|
1998 |
Watnick TJ, Torres VE, Gandolph MA, Qian F, Onuchic LF, Klinger KW, Landes G, Germino GG. Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. Molecular Cell. 2: 247-51. PMID 9734362 |
0.439 |
|
1998 |
Watnick TJ, Gandolph MA, Weber H, Neumann HP, Germino GG. Gene conversion is a likely cause of mutation in PKD1. Human Molecular Genetics. 7: 1239-43. PMID 9668165 |
0.512 |
|
1998 |
Mücher G, Becker J, Knapp M, Büttner R, Moser M, Rudnik-Schöneborn S, Somlo S, Germino G, Onuchic L, Avner E, Guay-Woodford L, Zerres K. Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12. Genomics. 48: 40-5. PMID 9503014 DOI: 10.1006/Geno.1997.5145 |
0.332 |
|
1997 |
Watnick TJ, Piontek KB, Cordal TM, Weber H, Gandolph MA, Qian F, Lens XM, Neumann HP, Germino GG. An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. Human Molecular Genetics. 6: 1473-81. PMID 9285784 DOI: 10.1093/hmg/6.9.1473 |
0.421 |
|
1997 |
Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG. PKD1 interacts with PKD2 through a probable coiled-coil domain. Nature Genetics. 16: 179-83. PMID 9171830 DOI: 10.1038/ng0697-179 |
0.414 |
|
1997 |
Germino GG. Autosomal dominant polycystic kidney disease: a two-hit model. Hospital Practice (1995). 32: 81-2, 85-8, 91-2 pas. PMID 9078975 DOI: 10.1080/21548331.1997.11443444 |
0.338 |
|
1996 |
Van Raay TJ, Burn TC, Connors TD, Petry LR, Germino GG, Klinger KW, Landes GM. A 2.5 kb polypyrimidine tract in the PKD1 gene contains at least 23 H-DNA-forming sequences. Microbial & Comparative Genomics. 1: 317-27. PMID 9689215 |
0.324 |
|
1996 |
Qian F, Watnick TJ, Onuchic LF, Germino GG. The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell. 87: 979-87. PMID 8978603 DOI: 10.1016/S0092-8674(00)81793-6 |
0.454 |
|
1995 |
Kraus B, Pohlschmidt M, Leung AL, Germino GG, Snarey A, Schneider MC, Reeders ST, Frischauf AM. A novel cyclin gene (CCNF) in the region of the polycystic kidney disease gene (PKD1). Genomics. 24: 27-33. PMID 7896286 DOI: 10.1006/geno.1994.1578 |
0.476 |
|
1995 |
Harris PC, Germino G, Klinger K, Landes G, Van Adelsberg J. The PKD1 gene product Nature Medicine. 1: 493. PMID 7585106 DOI: 10.1038/Nm0695-493A |
0.365 |
|
1994 |
Weinstat-Saslow DL, Germino GG, Somlo S, Reeders ST. A transducin-like gene maps to the autosomal dominant polycystic kidney disease gene region. Genomics. 18: 709-11. PMID 8307582 DOI: 10.1016/S0888-7543(05)80380-5 |
0.426 |
|
1994 |
Germino GG, Somlo S. Inherited diseases of the kidney. Current Opinion in Nephrology and Hypertension. 2: 430-40. PMID 7922203 DOI: 10.1097/00041552-199305000-00011 |
0.458 |
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1992 |
Germino GG, Weinstat-Saslow D, Himmelbauer H, Gillespie GA, Somlo S, Wirth B, Barton N, Harris KL, Frischauf AM, Reeders ST. The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics. 13: 144-51. PMID 1577479 DOI: 10.1016/0888-7543(92)90214-D |
0.4 |
|
1992 |
Himmelbauer H, Pohlschmidt M, Snarey A, Germino GG, Weinstat-Saslow D, Somlo S, Reeders ST, Frischauf AM. Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1). Genomics. 13: 35-8. PMID 1349580 DOI: 10.1016/0888-7543(92)90198-2 |
0.374 |
|
1992 |
Somlo S, Wirth B, Germino GG, Weinstat-Saslow D, Gillespie GA, Himmelbauer H, Steevens L, Coucke P, Willems P, Bachner L. Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers. Genomics. 13: 152-8. PMID 1349570 DOI: 10.1016/0888-7543(92)90215-E |
0.392 |
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1991 |
Gillespie GA, Somlo S, Germino GG, Weinstat-Saslow D, Reeders ST. CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel. Proceedings of the National Academy of Sciences of the United States of America. 88: 4289-93. PMID 1709739 DOI: 10.1073/Pnas.88.10.4289 |
0.376 |
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