Stefan Somlo - Publications

Affiliations: 
Yale University, New Haven, CT 
Area:
Genetics, Cell Biology

166 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet MP, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, ... ... Somlo S, et al. Sex, genotype, and liver volume progression as risk of hospitalization determinants in autosomal dominant polycystic liver disease. Gastroenterology. PMID 38101549 DOI: 10.1053/j.gastro.2023.12.007  0.766
2023 Onuchic L, Padovano V, Schena G, Rajendran V, Dong K, Shi X, Pandya R, Rai V, Gresko NP, Ahmed O, Lam TT, Wang W, Shen H, Somlo S, Caplan MJ. The C-terminal tail of polycystin-1 suppresses cystic disease in a mitochondrial enzyme-dependent fashion. Nature Communications. 14: 1790. PMID 36997516 DOI: 10.1038/s41467-023-37449-1  0.351
2023 Torres VE, Wang X, Quian Q, Somlo ST, Harris P, Gattone V. Will Vasopressin 2 Receptor Antagonists Prevent Autosomal Dominant Polycystic Kidney Disease?: Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease. Nat Med 10: 363-364, 2004. Journal of the American Society of Nephrology : Jasn. 16: 6-7. PMID 36996429 DOI: 10.1681/01.asn.0000926680.18905.68  0.378
2023 Gulati A, Dahl NK, Hartung EA, Clark SL, Moudgil A, Goodwin J, Somlo S. Hypomorphic PKD1 alleles impact disease variability in autosomal dominant polycystic kidney disease. Kidney360. PMID 36706243 DOI: 10.34067/KID.0000000000000064  0.387
2022 Krappitz M, Bhardwaj R, Dong K, Staudner T, Yilmaz DE, Pioppini C, Westergerling P, Ruemmele D, Hollmann T, Nguyen TA, Cai Y, Gallagher AR, Somlo S, Fedeles S. XBP1 Activation Reduces Severity of Polycystic Kidney Disease due to a Nontruncating Mutation in Mice. Journal of the American Society of Nephrology : Jasn. PMID 36270750 DOI: 10.1681/ASN.2021091180  0.818
2022 Mirza H, Besse W, Somlo S, Weinreb J, Kenney B, Jain D. An Update on Ductal Plate Malformations and Fibropolycystic Diseases of the Liver. Human Pathology. PMID 35777701 DOI: 10.1016/j.humpath.2022.06.022  0.761
2021 Dong K, Zhang C, Tian X, Coman D, Hyder F, Ma M, Somlo S. Renal plasticity revealed through reversal of polycystic kidney disease in mice. Nature Genetics. PMID 34635846 DOI: 10.1038/s41588-021-00946-4  0.467
2021 Grosch M, Brunner K, Ilyaskin AV, Schober M, Staudner T, Schmied D, Stumpp T, Schmidt KN, Madej MG, Pessoa TD, Othmen H, Osten L, de Vries U, Mair MM, Somlo S, et al. A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts. Journal of Cell Science. PMID 34345895 DOI: 10.1242/jcs.259013  0.329
2020 Gallagher AR, Somlo S. Loss of cilia does not slow liver disease progression in mouse models of autosomal recessive polycystic kidney disease Kidney. 1: 962-968. PMID 33829210 DOI: 10.34067/Kid.0001022019  0.525
2020 Besse W, Roosendaal C, Tuccillo L, Roy SG, Gallagher AR, Somlo S. Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease. Kidney360. 1: 1068-1076. PMID 33554127 DOI: 10.34067/Kid.0002522020  0.845
2020 Vien TN, Ng LCT, Smith JM, Dong K, Krappitz M, Gainullin VG, Fedeles S, Harris PC, Somlo S, DeCaen PG. Disrupting Polycystin-2 EF hand Ca affinity does not alter channel function or contribute to polycystic kidney disease. Journal of Cell Science. PMID 33199522 DOI: 10.1242/jcs.255562  0.754
2020 Zhang C, Balbo B, Ma M, Zhao J, Tian X, Kluger Y, Somlo S. Cyclin-Dependent Kinase 1 Activity Is a Driver of Cyst Growth in Polycystic Kidney Disease. Journal of the American Society of Nephrology : Jasn. PMID 33046531 DOI: 10.1681/ASN.2020040511  0.487
2020 Braden GL, Chapman A, Ellison DH, Gadegbeku CA, Gurley SB, Igarashi P, Kelepouris E, Moxey-Mims MM, Okusa MD, Plumb TJ, Quaggin SE, Salant DJ, Segal MS, Shankland SJ, Somlo S. Advancing Nephrology: Division Leaders Advise ASN. Clinical Journal of the American Society of Nephrology : Cjasn. PMID 32792352 DOI: 10.2215/Cjn.01550220  0.383
2020 Wilson EM, Choi J, Torres VE, Somlo S, Besse W. Large Deletions in and Explain 2 Cases of Polycystic Kidney and Liver Disease. Kidney International Reports. 5: 727-731. PMID 32405593 DOI: 10.1016/J.Ekir.2020.01.009  0.792
2020 Gulati A, Sevillano AM, Praga M, Gutierrez E, Alba I, Dahl NK, Besse W, Choi J, Somlo S. Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD. Kidney International Reports. 5: 103-108. PMID 31922066 DOI: 10.1016/J.Ekir.2019.09.004  0.788
2019 Ma M, Legué E, Tian X, Somlo S, Liem KF. Cell-Autonomous Hedgehog Signaling Is Not Required for Cyst Formation in Autosomal Dominant Polycystic Kidney Disease. Journal of the American Society of Nephrology : Jasn. PMID 31451534 DOI: 10.1681/Asn.2018121274  0.539
2019 Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S, Torres VE, Somlo S, Mirshahi T. Mutation Carriers Develop Kidney and Liver Cysts. Journal of the American Society of Nephrology : Jasn. PMID 31395617 DOI: 10.1681/Asn.2019030298  0.838
2019 Ishikawa Y, Fedeles S, Marlier A, Zhang C, Gallagher AR, Lee AH, Somlo S. Spliced XBP1 Rescues Renal Interstitial Inflammation Due to Loss of in Collecting Ducts. Journal of the American Society of Nephrology : Jasn. PMID 30745418 DOI: 10.1681/Asn.2018060614  0.833
2018 Cassini MF, Kakade VR, Kurtz E, Sulkowski P, Glazer P, Torres R, Somlo S, Cantley LG. Mcp1 Promotes Macrophage-Dependent Cyst Expansion in Autosomal Dominant Polycystic Kidney Disease. Journal of the American Society of Nephrology : Jasn. PMID 30209078 DOI: 10.1681/Asn.2018050518  0.492
2018 Gulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK. TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation. American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. PMID 29941221 DOI: 10.1053/J.Ajkd.2018.05.006  0.505
2018 Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Férec C, ... ... Somlo S, et al. Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. American Journal of Human Genetics. PMID 29706351 DOI: 10.1016/J.Ajhg.2018.03.013  0.816
2018 Gulati A, Bae KT, Somlo S, Watnick T. Genomic Analysis to Avoid Misdiagnosis of Adults With Bilateral Renal Cysts. Annals of Internal Medicine. PMID 29582070 DOI: 10.7326/L17-0644  0.326
2018 Criollo A, Altamirano F, Pedrozo Z, Schiattarella GG, Li DL, Rivera-Mejías P, Sotomayor-Flores C, Parra V, Villalobos E, Battiprolu PK, Jiang N, May HI, Morselli E, Somlo S, de Smedt H, et al. Polycystin-2-dependent control of cardiomyocyte autophagy. Journal of Molecular and Cellular Cardiology. PMID 29518398 DOI: 10.1016/J.Yjmcc.2018.03.002  0.465
2018 Soomro I, Sun Y, Li Z, Diggs L, Hatzivassiliou G, Thomas AG, Rais R, Slusher BS, Somlo S, Skolnik EY. Glutamine metabolism via glutaminase 1 in autosomal-dominant polycystic kidney disease. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. PMID 29420817 DOI: 10.1093/Ndt/Gfx349  0.399
2018 Nikonova AS, Deneka AY, Kiseleva AA, Korobeynikov V, Gaponova A, Serebriiskii IG, Kopp MC, Hensley HH, Seeger-Nukpezah TN, Somlo S, Proia DA, Golemis EA. Ganetespib limits ciliation and cystogenesis in autosomal-dominant polycystic kidney disease (ADPKD). Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. fj201700909R. PMID 29401581 DOI: 10.1096/Fj.201700909R  0.518
2017 Besse W, Choi J, Ahram D, Mane S, Sanna-Cherchi S, Torres V, Somlo S. A non-coding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Human Mutation. PMID 29243290 DOI: 10.1002/Humu.23383  0.787
2017 Wang Q, Cobo-Stark P, Patel V, Somlo S, Han PL, Igarashi P. Adenylyl cyclase 5 deficiency reduces renal cyclic AMP and cyst growth in an orthologous mouse model of polycystic kidney disease. Kidney International. PMID 29042084 DOI: 10.1016/J.Kint.2017.08.005  0.459
2017 Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, ... ... Somlo S, et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. The Journal of Clinical Investigation. 127: 3558. PMID 28862642 DOI: 10.1172/Jci96729  0.793
2017 Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, ... ... Somlo S, et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. The Journal of Clinical Investigation. PMID 28375157 DOI: 10.1172/Jci90129  0.834
2017 Ma M, Gallagher AR, Somlo S. Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease. Cold Spring Harbor Perspectives in Biology. PMID 28320755 DOI: 10.1101/Cshperspect.A028209  0.481
2016 Padovano V, Kuo IY, Stavola LK, Aerni HR, Flaherty BJ, Chapin HC, Ma M, Somlo S, Boletta A, Ehrlich BE, Rinehart J, Caplan MJ. The polycystins are modulated by cellular oxygen sensing pathways and regulate mitochondrial function. Molecular Biology of the Cell. PMID 27881662 DOI: 10.1091/Mbc.E16-08-0597  0.365
2016 de Stephanis L, Bonon A, Varani K, Lanza G, Gafà R, Pinton P, Pema M, Somlo S, Boletta A, Aguiari G. Double inhibition of cAMP and mTOR signalling may potentiate the reduction of cell growth in ADPKD cells. Clinical and Experimental Nephrology. PMID 27278932 DOI: 10.1007/S10157-016-1289-1  0.454
2016 Li Y, Tian X, Ma M, Jerman S, Kong S, Somlo S, Sun Z. Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts. Journal of the American Society of Nephrology : Jasn. PMID 27153923 DOI: 10.1681/Asn.2015091004  0.543
2016 Pema M, Drusian L, Chiaravalli M, Castelli M, Yao Q, Ricciardi S, Somlo S, Qian F, Biffo S, Boletta A. mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex. Nature Communications. 7: 10786. PMID 26931735 DOI: 10.1038/Ncomms10786  0.541
2015 Li A, Tian X, Zhang X, Huang S, Ma Y, Wu D, Moeckel G, Somlo S, Wu G. Human Polycystin-2 Transgene Dose-Dependently Rescues ADPKD Phenotypes in Pkd2 Mutant Mice. The American Journal of Pathology. 185: 2843-60. PMID 26435415 DOI: 10.1016/J.Ajpath.2015.06.014  0.456
2015 Hassan H, Tian X, Inoue K, Chai N, Liu C, Soda K, Moeckel G, Tufro A, Lee AH, Somlo S, Fedeles S, Ishibe S. Essential Role of X-Box Binding Protein-1 during Endoplasmic Reticulum Stress in Podocytes. Journal of the American Society of Nephrology : Jasn. PMID 26303067 DOI: 10.1681/Asn.2015020191  0.746
2015 Franco I, Margaria JP, De Santis MC, Ranghino A, Monteyne D, Chiaravalli M, Pema M, Campa CC, Ratto E, Gulluni F, Perez-Morga D, Somlo S, Merlo GR, Boletta A, Hirsch E. Phosphoinositide 3-Kinase-C2α Regulates Polycystin-2 Ciliary Entry and Protects against Kidney Cyst Formation. Journal of the American Society of Nephrology : Jasn. PMID 26271513 DOI: 10.1681/Asn.2014100967  0.457
2015 Antignac C, Calvet JP, Germino GG, Grantham JJ, Guay-Woodford LM, Harris PC, Hildebrandt F, Peters DJ, Somlo S, Torres VE, Walz G, Zhou J, Yu AS. The Future of Polycystic Kidney Disease Research-As Seen By the 12 Kaplan Awardees. Journal of the American Society of Nephrology : Jasn. PMID 25952256 DOI: 10.1681/Asn.2014121192  0.398
2015 Fedeles SV, So JS, Shrikhande A, Lee SH, Gallagher AR, Barkauskas CE, Somlo S, Lee AH. Sec63 and Xbp1 regulate IRE1α activity and polycystic disease severity. The Journal of Clinical Investigation. 125: 1955-67. PMID 25844898 DOI: 10.1172/Jci78863  0.819
2014 Lee SH, Somlo S. Cyst growth, polycystins, and primary cilia in autosomal dominant polycystic kidney disease. Kidney Research and Clinical Practice. 33: 73-8. PMID 26877954 DOI: 10.1016/J.Krcp.2014.05.002  0.556
2014 Cai Y, Fedeles SV, Dong K, Anyatonwu G, Onoe T, Mitobe M, Gao JD, Okuhara D, Tian X, Gallagher AR, Tang Z, Xie X, Lalioti MD, Lee AH, Ehrlich BE, ... Somlo S, et al. Altered trafficking and stability of polycystins underlie polycystic kidney disease. The Journal of Clinical Investigation. 124: 5129-44. PMID 25365220 DOI: 10.1172/Jci67273  0.808
2014 Bonventre JV, Boulware LE, Dember LM, Freedman BI, Furth SL, Holzman LB, Ketchum CJ, Little MH, Mehrotra R, Moe SM, Sands JM, Sedor JR, Somlo S, Star RA, Rys-Sikora KE, et al. The kidney research national dialogue: gearing up to move forward. Clinical Journal of the American Society of Nephrology : Cjasn. 9: 1806-11. PMID 25225184 DOI: 10.2215/Cjn.07310714  0.407
2014 Guay-Woodford LM, Henske E, Igarashi P, Perrone RD, Reed-Gitomer B, Somlo S, Torres VE, Ketchum CJ, Star RA, Flessner MF, Rasooly RS. Filling the holes in cystic kidney disease research. Clinical Journal of the American Society of Nephrology : Cjasn. 9: 1799-801. PMID 24903391 DOI: 10.2215/Cjn.03410414  0.494
2014 Hofherr A, Wagner C, Fedeles S, Somlo S, Köttgen M. N-glycosylation determines the abundance of the transient receptor potential channel TRPP2. The Journal of Biological Chemistry. 289: 14854-67. PMID 24719335 DOI: 10.1074/Jbc.M114.562264  0.784
2014 Yuajit C, Muanprasat C, Gallagher AR, Fedeles SV, Kittayaruksakul S, Homvisasevongsa S, Somlo S, Chatsudthipong V. Steviol retards renal cyst growth through reduction of CFTR expression and inhibition of epithelial cell proliferation in a mouse model of polycystic kidney disease. Biochemical Pharmacology. 88: 412-21. PMID 24518257 DOI: 10.1016/J.Bcp.2014.01.038  0.796
2014 Fedeles SV, Gallagher AR, Somlo S. Polycystin-1: a master regulator of intersecting cystic pathways. Trends in Molecular Medicine. 20: 251-60. PMID 24491980 DOI: 10.1016/J.Molmed.2014.01.004  0.821
2013 Ma M, Tian X, Igarashi P, Pazour GJ, Somlo S. Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease. Nature Genetics. 45: 1004-12. PMID 23892607 DOI: 10.1038/Ng.2715  0.453
2013 Patel V, Williams D, Hajarnis S, Hunter R, Pontoglio M, Somlo S, Igarashi P. miR-17~92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease. Proceedings of the National Academy of Sciences of the United States of America. 110: 10765-70. PMID 23759744 DOI: 10.1073/Pnas.1301693110  0.374
2012 Peyronnet R, Sharif-Naeini R, Folgering JH, Arhatte M, Jodar M, El Boustany C, Gallian C, Tauc M, Duranton C, Rubera I, Lesage F, Pei Y, Peters DJ, Somlo S, Sachs F, et al. Mechanoprotection by polycystins against apoptosis is mediated through the opening of stretch-activated K(2P) channels. Cell Reports. 1: 241-50. PMID 22832196 DOI: 10.1016/J.Celrep.2012.01.006  0.391
2012 Aguiari G, Bizzarri F, Bonon A, Mangolini A, Magri E, Pedriali M, Querzoli P, Somlo S, Harris PC, Catizone L, Del Senno L. Polycystin-1 regulates amphiregulin expression through CREB and AP1 signalling: implications in ADPKD cell proliferation. Journal of Molecular Medicine (Berlin, Germany). 90: 1267-82. PMID 22570239 DOI: 10.1007/S00109-012-0902-3  0.4
2012 Lang S, Benedix J, Fedeles SV, Schorr S, Schirra C, Schäuble N, Jalal C, Greiner M, Hassdenteufel S, Tatzelt J, Kreutzer B, Edelmann L, Krause E, Rettig J, Somlo S, et al. Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells. Journal of Cell Science. 125: 1958-69. PMID 22375059 DOI: 10.1242/Jcs.096727  0.748
2012 Parikh CR, Dahl NK, Chapman AB, Bost JE, Edelstein CL, Comer DM, Zeltner R, Tian X, Grantham JJ, Somlo S. Evaluation of urine biomarkers of kidney injury in polycystic kidney disease. Kidney International. 81: 784-90. PMID 22258321 DOI: 10.1038/Ki.2011.465  0.4
2012 Merrick D, Chapin H, Baggs JE, Yu Z, Somlo S, Sun Z, Hogenesch JB, Caplan MJ. The γ-secretase cleavage product of polycystin-1 regulates TCF and CHOP-mediated transcriptional activation through a p300-dependent mechanism. Developmental Cell. 22: 197-210. PMID 22178500 DOI: 10.1016/J.Devcel.2011.10.028  0.424
2011 Karihaloo A, Koraishy F, Huen SC, Lee Y, Merrick D, Caplan MJ, Somlo S, Cantley LG. Macrophages promote cyst growth in polycystic kidney disease. Journal of the American Society of Nephrology : Jasn. 22: 1809-14. PMID 21921140 DOI: 10.1681/Asn.2011010084  0.394
2011 Fedeles SV, Tian X, Gallagher AR, Mitobe M, Nishio S, Lee SH, Cai Y, Geng L, Crews CM, Somlo S. A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. Nature Genetics. 43: 639-47. PMID 21685914 DOI: 10.1038/Ng.860  0.841
2011 Choi YH, Suzuki A, Hajarnis S, Ma Z, Chapin HC, Caplan MJ, Pontoglio M, Somlo S, Igarashi P. Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases. Proceedings of the National Academy of Sciences of the United States of America. 108: 10679-84. PMID 21670265 DOI: 10.1073/Pnas.1016214108  0.53
2011 Strazzabosco M, Somlo S. Polycystic liver diseases: congenital disorders of cholangiocyte signaling. Gastroenterology. 140: 1855-9, 1859.e1. PMID 21515270 DOI: 10.1053/J.Gastro.2011.04.030  0.466
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  0.455
2011 Takiar V, Nishio S, Seo-Mayer P, King JD, Li H, Zhang L, Karihaloo A, Hallows KR, Somlo S, Caplan MJ. Activating AMP-activated protein kinase (AMPK) slows renal cystogenesis. Proceedings of the National Academy of Sciences of the United States of America. 108: 2462-7. PMID 21262823 DOI: 10.1073/Pnas.1011498108  0.438
2010 Sammels E, Devogelaere B, Mekahli D, Bultynck G, Missiaen L, Parys JB, Cai Y, Somlo S, De Smedt H. Polycystin-2 activation by inositol 1,4,5-trisphosphate-induced Ca2+ release requires its direct association with the inositol 1,4,5-trisphosphate receptor in a signaling microdomain. The Journal of Biological Chemistry. 285: 18794-805. PMID 20375013 DOI: 10.1074/Jbc.M109.090662  0.329
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  0.577
2010 Spirli C, Okolicsanyi S, Fiorotto R, Fabris L, Cadamuro M, Lecchi S, Tian X, Somlo S, Strazzabosco M. Mammalian target of rapamycin regulates vascular endothelial growth factor-dependent liver cyst growth in polycystin-2-defective mice. Hepatology (Baltimore, Md.). 51: 1778-88. PMID 20131403 DOI: 10.1002/Hep.23511  0.362
2010 Waanders E, Venselaar H, te Morsche RH, de Koning DB, Kamath PS, Torres VE, Somlo S, Drenth JP. Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63. Clinical Genetics. 78: 47-56. PMID 20095989 DOI: 10.1111/J.1399-0004.2009.01353.X  0.466
2010 Nishio S, Tian X, Gallagher AR, Yu Z, Patel V, Igarashi P, Somlo S. Loss of oriented cell division does not initiate cyst formation. Journal of the American Society of Nephrology : Jasn. 21: 295-302. PMID 19959710 DOI: 10.1681/Asn.2009060603  0.479
2010 Spirli C, Okolicsanyi S, Fiorotto R, Fabris L, Cadamuro M, Lecchi S, Tian X, Somlo S, Strazzabosco M. ERK1/2-dependent vascular endothelial growth factor signaling sustains cyst growth in polycystin-2 defective mice. Gastroenterology. 138: 360-371.e7. PMID 19766642 DOI: 10.1053/J.Gastro.2009.09.005  0.39
2009 Cao Y, Semanchik N, Lee SH, Somlo S, Barbano PE, Coifman R, Sun Z. Chemical modifier screen identifies HDAC inhibitors as suppressors of PKD models. Proceedings of the National Academy of Sciences of the United States of America. 106: 21819-24. PMID 19966229 DOI: 10.1073/Pnas.0911987106  0.425
2009 Bertuccio CA, Chapin HC, Cai Y, Mistry K, Chauvet V, Somlo S, Caplan MJ. Polycystin-1 C-terminal cleavage is modulated by polycystin-2 expression. The Journal of Biological Chemistry. 284: 21011-26. PMID 19491093 DOI: 10.1074/Jbc.M109.017756  0.358
2009 Osten L, Kubitza M, Gallagher AR, Kastner J, Olbrich H, de Vries U, Kees F, Lelongt B, Somlo S, Omran H, Witzgall R. Doxycycline accelerates renal cyst growth and fibrosis in the pcy/pcy mouse model of type 3 nephronophthisis, a form of recessive polycystic kidney disease. Histochemistry and Cell Biology. 132: 199-210. PMID 19381676 DOI: 10.1007/S00418-009-0588-Y  0.491
2009 Wang X, Harris PC, Somlo S, Batlle D, Torres VE. Effect of calcium-sensing receptor activation in models of autosomal recessive or dominant polycystic kidney disease. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. 24: 526-34. PMID 18826972 DOI: 10.1093/Ndt/Gfn527  0.397
2009 Waanders E, De Koning D, Te Morsche R, Venselaar H, Kamath P, Torres V, Somlo S, Drenth J. 438 SECONDARY AND TERTIARY STRUCTURE MODELING REVEALS EFFECTS OF NOVEL MUTATIONS IN POLYCYSTIC LIVER DISEASE GENES PRKCSH AND SEC63 Journal of Hepatology. 50: S164-S165. DOI: 10.1016/S0168-8278(09)60440-2  0.427
2009 Spirli C, Okolicsanyi S, Fiorotto R, Fabris L, Cadamuro M, Lechhi S, Tiang X, Somlo S, Strazzabosco M. 72 RAPAMYCIN INHIBITS CYST GROWTH, IGF-1-MEDIATED VEGF SECRETION AND CELL PROLIFERATION IN POLYCYSTIN-2 DEFECTIVE MICE, A MODEL FOR POLYCYSTIC LIVER DISEASE (PLD) ASSOCIATED TO ADULT-DOMINANT-POLYCYSTIC-KIDNEY-DISEASE (ADPKD) Journal of Hepatology. 50: S30. DOI: 10.1016/S0168-8278(09)60074-X  0.366
2009 Somlo S, Guay-Woodford LM. Polycystic Kidney Disease Genetic Diseases of the Kidney. 393-424. DOI: 10.1016/B978-0-12-449851-8.00024-3  0.447
2008 Wei F, Karihaloo A, Yu Z, Marlier A, Seth P, Shibazaki S, Wang T, Sukhatme VP, Somlo S, Cantley LG. Neutrophil gelatinase-associated lipocalin suppresses cyst growth by Pkd1 null cells in vitro and in vivo. Kidney International. 74: 1310-8. PMID 18974761 DOI: 10.1038/Ki.2008.395  0.411
2008 Geng L, Boehmerle W, Maeda Y, Okuhara DY, Tian X, Yu Z, Choe CU, Anyatonwu GI, Ehrlich BE, Somlo S. Syntaxin 5 regulates the endoplasmic reticulum channel-release properties of polycystin-2. Proceedings of the National Academy of Sciences of the United States of America. 105: 15920-5. PMID 18836075 DOI: 10.1073/Pnas.0805062105  0.365
2008 Leuenroth SJ, Bencivenga N, Igarashi P, Somlo S, Crews CM. Triptolide reduces cystogenesis in a model of ADPKD. Journal of the American Society of Nephrology : Jasn. 19: 1659-62. PMID 18650476 DOI: 10.1681/Asn.2008030259  0.504
2008 Battini L, Macip S, Fedorova E, Dikman S, Somlo S, Montagna C, Gusella GL. Loss of polycystin-1 causes centrosome amplification and genomic instability. Human Molecular Genetics. 17: 2819-33. PMID 18566106 DOI: 10.1093/Hmg/Ddn180  0.535
2008 Yang B, Sonawane ND, Zhao D, Somlo S, Verkman AS. Small-molecule CFTR inhibitors slow cyst growth in polycystic kidney disease. Journal of the American Society of Nephrology : Jasn. 19: 1300-10. PMID 18385427 DOI: 10.1681/Asn.2007070828  0.455
2008 Williams SS, Cobo-Stark P, James LR, Somlo S, Igarashi P. Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease Pediatric Nephrology. 23: 733-741. PMID 18286309 DOI: 10.1007/S00467-007-0735-4  0.527
2008 Cai Y, Somlo S. Too much of a good thing: does Nek8 link polycystic kidney disease and nephronophthisis? Journal of the American Society of Nephrology : Jasn. 19: 418-20. PMID 18272836 DOI: 10.1681/Asn.2008010084  0.525
2008 Patel V, Li L, Cobo-Stark P, Shao X, Somlo S, Lin F, Igarashi P. Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia. Human Molecular Genetics. 17: 1578-90. PMID 18263895 DOI: 10.1093/Hmg/Ddn045  0.477
2008 Shibazaki S, Yu Z, Nishio S, Tian X, Thomson RB, Mitobe M, Louvi A, Velazquez H, Ishibe S, Cantley LG, Igarashi P, Somlo S. Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1. Human Molecular Genetics. 17: 1505-16. PMID 18263604 DOI: 10.1093/Hmg/Ddn039  0.45
2008 Gallagher AR, Esquivel EL, Briere TS, Tian X, Mitobe M, Menezes LF, Markowitz GS, Jain D, Onuchic LF, Somlo S. Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. The American Journal of Pathology. 172: 417-29. PMID 18202188 DOI: 10.2353/Ajpath.2008.070381  0.773
2007 Igarashi P, Somlo S. Polycystic kidney disease. Journal of the American Society of Nephrology : Jasn. 18: 1371-3. PMID 17429047 DOI: 10.1681/Asn.2007030299  0.489
2007 Anyatonwu GI, Estrada M, Tian X, Somlo S, Ehrlich BE. Regulation of ryanodine receptor-dependent calcium signaling by polycystin-2. Proceedings of the National Academy of Sciences of the United States of America. 104: 6454-9. PMID 17404231 DOI: 10.1073/Pnas.0610324104  0.338
2007 Leuenroth SJ, Okuhara D, Shotwell JD, Markowitz GS, Yu Z, Somlo S, Crews CM. Triptolide is a traditional Chinese medicine-derived inhibitor of polycystic kidney disease. Proceedings of the National Academy of Sciences of the United States of America. 104: 4389-94. PMID 17360534 DOI: 10.1073/Pnas.0700499104  0.44
2006 Joly D, Ishibe S, Nickel C, Yu Z, Somlo S, Cantley LG. The polycystin 1-C-terminal fragment stimulates ERK-dependent spreading of renal epithelial cells. The Journal of Biological Chemistry. 281: 26329-39. PMID 16790429 DOI: 10.1074/jbc.M601373200  0.35
2006 Geng L, Okuhara D, Yu Z, Tian X, Cai Y, Shibazaki S, Somlo S. Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif. Journal of Cell Science. 119: 1383-95. PMID 16537653 DOI: 10.1242/Jcs.02818  0.381
2006 Grimm DH, Karihaloo A, Cai Y, Somlo S, Cantley LG, Caplan MJ. Polycystin-2 regulates proliferation and branching morphogenesis in kidney epithelial cells. The Journal of Biological Chemistry. 281: 137-44. PMID 16278216 DOI: 10.1074/Jbc.M507845200  0.437
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  0.514
2005 Kip SN, Hunter LW, Ren Q, Harris PC, Somlo S, Torres VE, Sieck GC, Qian Q. [Ca2+]i reduction increases cellular proliferation and apoptosis in vascular smooth muscle cells: relevance to the ADPKD phenotype. Circulation Research. 96: 873-80. PMID 15790956 DOI: 10.1161/01.Res.0000163278.68142.8A  0.32
2004 Chauvet V, Tian X, Husson H, Grimm DH, Wang T, Hieseberger T, Igarashi P, Bennett AM, Ibraghimov-Beskrovnaya O, Somlo S, Caplan MJ. Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus Journal of Clinical Investigation. 114: 1433-1443. PMID 15545994 DOI: 10.1172/Jci21753  0.436
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  0.425
2004 Davila S, Furu L, Gharavi AG, Tian X, Onoe T, Qian Q, Li A, Cai Y, Kamath PS, King BF, Azurmendi PJ, Tahvanainen P, Kääriäinen H, Höckerstedt K, Devuyst O, ... ... Somlo S, et al. Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nature Genetics. 36: 575-7. PMID 15133510 DOI: 10.1038/Ng1357  0.529
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, et al. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Human Mutation. 23: 453-63. PMID 15108277 DOI: 10.1002/Humu.20029  0.502
2004 Hiesberger T, Bai Y, Shao X, McNally BT, Sinclair AM, Tian X, Somlo S, Igarashi P. Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. The Journal of Clinical Investigation. 113: 814-25. PMID 15067314 DOI: 10.1172/Jci20083  0.477
2004 Babich V, Zeng WZ, Yeh BI, Ibraghimov-Beskrovnaya O, Cai Y, Somlo S, Huang CL. The N-terminal extracellular domain is required for polycystin-1-dependent channel activity. The Journal of Biological Chemistry. 279: 25582-9. PMID 15060061 DOI: 10.1074/Jbc.M402829200  0.401
2004 Aguiari G, Banzi M, Gessi S, Cai Y, Zeggio E, Manzati E, Piva R, Lambertini E, Ferrari L, Peters DJ, Lanza F, Harris PC, Borea PA, Somlo S, Del Senno L. Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 18: 884-6. PMID 15001556 DOI: 10.1096/Fj.03-0687Fje  0.455
2004 Torres VE, Wang X, Qian Q, Somlo S, Harris PC, Gattone VH. Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease. Nature Medicine. 10: 363-4. PMID 14991049 DOI: 10.1038/Nm1004  0.481
2004 Cai Y, Anyatonwu G, Okuhara D, Lee KB, Yu Z, Onoe T, Mei CL, Qian Q, Geng L, Wiztgall R, Ehrlich BE, Somlo S. Calcium dependence of polycystin-2 channel activity is modulated by phosphorylation at Ser812. The Journal of Biological Chemistry. 279: 19987-95. PMID 14742446 DOI: 10.1074/Jbc.M312031200  0.339
2003 Qian Q, Li M, Cai Y, Ward CJ, Somlo S, Harris PC, Torres VE. Analysis of the polycystins in aortic vascular smooth muscle cells. Journal of the American Society of Nephrology : Jasn. 14: 2280-7. PMID 12937304 DOI: 10.1097/01.Asn.0000080185.38113.A3  0.363
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  0.523
2003 Qian Q, Hunter LW, Li M, Marin-Padilla M, Prakash YS, Somlo S, Harris PC, Torres VE, Sieck GC. Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells. Human Molecular Genetics. 12: 1875-80. PMID 12874107 DOI: 10.1093/Hmg/Ddg190  0.381
2003 Thomson RB, Mentone S, Kim R, Earle K, Delpire E, Somlo S, Aronson PS. Histopathological analysis of renal cystic epithelia in the Pkd2WS25/- mouse model of ADPKD. American Journal of Physiology. Renal Physiology. 285: F870-80. PMID 12851251 DOI: 10.1152/Ajprenal.00153.2003  0.363
2003 Grimm DH, Cai Y, Chauvet V, Rajendran V, Zeltner R, Geng L, Avner ED, Sweeney W, Somlo S, Caplan MJ. Polycystin-1 distribution is modulated by polycystin-2 expression in mammalian cells. The Journal of Biological Chemistry. 278: 36786-93. PMID 12840011 DOI: 10.1074/Jbc.M306536200  0.393
2003 Li A, Tian X, Sung SW, Somlo S. Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes. Genomics. 81: 596-608. PMID 12782129 DOI: 10.1016/S0888-7543(03)00048-X  0.448
2003 Lin F, Hiesberger T, Cordes K, Sinclair AM, Goldstein LS, Somlo S, Igarashi P. Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease. Proceedings of the National Academy of Sciences of the United States of America. 100: 5286-91. PMID 12672950 DOI: 10.1073/Pnas.0836980100  0.493
2003 Li A, Davila S, Furu L, Qian Q, Tian X, Kamath PS, King BF, Torres VE, Somlo S. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. American Journal of Human Genetics. 72: 691-703. PMID 12529853 DOI: 10.1086/368295  0.554
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  0.468
2003 Qian Q, Li A, King BF, Kamath PS, Lager DJ, Huston J, Shub C, Davila S, Somlo S, Torres VE. Clinical profile of autosomal dominant polycystic liver disease. Hepatology (Baltimore, Md.). 37: 164-71. PMID 12500201 DOI: 10.1053/jhep.2003.50006  0.353
2003 Li A, Tian X, Sung S, Somlo S. Erratum to “identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes” Genomics. 82: 498-500. DOI: 10.1016/S0888-7543(03)00217-9  0.508
2002 Kuehn EW, Park KM, Somlo S, Bonventre JV. Kidney injury molecule-1 expression in murine polycystic kidney disease. American Journal of Physiology. Renal Physiology. 283: F1326-36. PMID 12388382 DOI: 10.1152/Ajprenal.00166.2002  0.475
2002 Igarashi P, Somlo S. Genetics and pathogenesis of polycystic kidney disease. Journal of the American Society of Nephrology : Jasn. 13: 2384-98. PMID 12191984 DOI: 10.1097/01.Asn.0000028643.17901.42  0.461
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, 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  0.45
2002 Wu G, Tian X, Nishimura S, Markowitz GS, D'Agati V, Park JH, Yao L, Li L, Geng L, Zhao H, Edelmann W, Somlo S. Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. Human Molecular Genetics. 11: 1845-54. PMID 12140187 DOI: 10.1093/Hmg/11.16.1845  0.585
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  0.474
2002 Obermüller N, Cai Y, Kränzlin B, Thomson RB, Gretz N, Kriz W, Somlo S, Witzgall R. Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases. Journal of the American Society of Nephrology : Jasn. 13: 1855-64. PMID 12089381 DOI: 10.1097/01.Asn.0000018402.33620.C7  0.486
2002 Shao X, Somlo S, Igarashi P. Epithelial-specific Cre/lox recombination in the developing kidney and genitourinary tract. Journal of the American Society of Nephrology : Jasn. 13: 1837-46. PMID 12089379 DOI: 10.1097/01.Asn.0000016444.90348.50  0.435
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, ... ... Somlo S, 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  0.51
2002 Koulen P, Cai Y, Geng L, Maeda Y, Nishimura S, Witzgall R, Ehrlich BE, Somlo S. Polycystin-2 is an intracellular calcium release channel. Nature Cell Biology. 4: 191-7. PMID 11854751 DOI: 10.1038/Ncb754  0.386
2001 Somlo S, Ehrlich B. Human disease: Calcium signaling in polycystic kidney disease Current Biology. 11: R356-R360. PMID 11369247 DOI: 10.1016/S0960-9822(01)00193-2  0.477
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  0.549
2000 Reynolds DM, Falk CT, Li A, King BF, Kamath PS, Huston J, Shub C, Iglesias DM, Martin RS, Pirson Y, Torres VE, Somlo S. Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. American Journal of Human Genetics. 67: 1598-604. PMID 11047756 DOI: 10.1086/316904  0.512
2000 Somlo S, Markowitz GS. The pathogenesis of autosomal dominant polycystic kidney disease: an update. Current Opinion in Nephrology and Hypertension. 9: 385-94. PMID 10926175 DOI: 10.1097/00041552-200007000-00010  0.528
2000 Lehtonen S, Ora A, Olkkonen VM, Geng L, Zerial M, Somlo S, Lehtonen E. In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin-2. The Journal of Biological Chemistry. 275: 32888-93. PMID 10913159 DOI: 10.1074/Jbc.M006624200  0.441
2000 Park JH, Li L, Cai Y, Hayashi T, Dong F, Maeda Y, Rubin C, Somlo S, Wu G. Cloning and characterization of the murine pkd2 promoter. Genomics. 66: 305-12. PMID 10873385 DOI: 10.1006/Geno.2000.6197  0.363
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  0.482
2000 Gallagher AR, Cedzich A, Gretz N, Somlo S, Witzgall R. The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. Proceedings of the National Academy of Sciences of the United States of America. 97: 4017-22. PMID 10760273 DOI: 10.1073/Pnas.97.8.4017  0.444
2000 Somlo S, Mundel P. Getting a foothold in nephrotic syndrome Nature Genetics. 24: 333-335. PMID 10742089 DOI: 10.1038/74139  0.345
2000 Wu G, Somlo S. Molecular genetics and mechanism of autosomal dominant polycystic kidney disease. Molecular Genetics and Metabolism. 69: 1-15. PMID 10655152 DOI: 10.1006/Mgme.1999.2943  0.544
2000 Wu G, Markowitz GS, Li L, D'Agati VD, Factor SM, Geng L, Tibara S, Tuchman J, Cai Y, Park JH, van Adelsberg J, Hou H, Kucherlapati R, Edelmann W, Somlo S. Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nature Genetics. 24: 75-8. PMID 10615132 DOI: 10.1038/71724  0.531
1999 Obermüller N, Gallagher AR, Cai Y, Gassler N, Gretz N, Somlo S, Witzgall R. The rat Pkd2 protein assumes distinct subcellular distributions in different organs. American Journal of Physiology. Renal Physiology. 277: F914-F925. PMID 29591634 DOI: 10.1152/Ajprenal.1999.277.6.F914  0.458
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  0.462
1999 Emmons SW, Somlo S. Signal transduction. Mating, channels and kidney cysts. Nature. 401: 339-40. PMID 10517627 DOI: 10.1038/43810  0.439
1999 Cai Y, Maeda Y, Cedzich A, Torres VE, Wu G, Hayashi T, Mochizuki T, Park JH, Witzgall R, Somlo S. Identification and characterization of polycystin-2, the PKD2 gene product. The Journal of Biological Chemistry. 274: 28557-65. PMID 10497221 DOI: 10.1074/Jbc.274.40.28557  0.392
1999 Markowitz GS, Cai Y, Li L, Wu G, Ward LC, Somlo S, D'Agati VD. Polycystin-2 expression is developmentally regulated. The American Journal of Physiology. 277: F17-25. PMID 10409293 DOI: 10.1152/Ajprenal.1999.277.1.F17  0.374
1999 Aguiari G, Manzati E, Penolazzi L, Micheletti F, Augello G, Vitali EDP, Cappelli G, Cai Y, Reynolds D, Somlo S, Piva R, Del Senno L. Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells American Journal of Kidney Diseases. 33: 880-885. PMID 10213643 DOI: 10.1016/S0272-6386(99)70420-8  0.561
1999 Park JH, Dixit MP, Onuchic LF, Wu G, Goncharuk AN, Kneitz S, Santarina LB, Hayashi T, Avner ED, Guay-Woodford L, Zerres K, Germino GG, Somlo S. A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6. Genomics. 57: 249-55. PMID 10198164 DOI: 10.1006/Geno.1999.5777  0.373
1999 Dixit M, Park JH, Somlo S. A 1 Mb BAC/PAC-Based Physical Map for Positional Cloning of the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD) Pediatric Research. 45: 330A-330A. DOI: 10.1203/00006450-199904020-01964  0.438
1999 Zerres K, Mucher G, Becker J, Steinkamm C, Rudnik-Schnewborn S, Heikkil P, Rapola J, Salonen R, Germino G, Onuchic L, Somlo S, Avner E, Harman L, Stockwin J, Guay-Woodford L. Prenatal Diagnosis of Autosomal Recessive Polycystic Kidney Disease (ARPKD): Molecular Genetics, Clinical Experience, and Fetal Morphology Journal of Urology. 161: 368-369. DOI: 10.1016/S0022-5347(01)62177-3  0.307
1998 Wu G, Hayashi T, Park JH, Dixit M, Reynolds DM, Li L, Maeda Y, Cai Y, Coca-Prados M, Somlo S. Identification of PKD2L, a human PKD2-related gene: Tissue-specific expression and mapping to chromosome 10q25 Genomics. 54: 564-568. PMID 9878261 DOI: 10.1006/Geno.1998.5618  0.521
1998 Pei Y, Wang K, Kasenda M, Paterson AD, Liang Y, Huang E, Lian J, Rogovea E, Somlo S, St George-Hyslop P. A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. Kidney International. 53: 1127-32. PMID 9573526 DOI: 10.1046/J.1523-1755.1998.00890.X  0.516
1998 Wu G, D'Agati V, Cai Y, Markowitz G, Park JH, Reynolds DM, Maeda Y, Le TC, Hou H, Kucherlapati R, Edelmann W, Somlo S. Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell. 93: 177-88. PMID 9568711 DOI: 10.1016/S0092-8674(00)81570-6  0.576
1998 Zerres K, Mücher G, Becker J, Steinkamm C, Rudnik-Schöneborn S, Heikkilä P, Rapola J, Salonen R, Germino GG, Onuchic L, Somlo S, Avner ED, Harman LA, Stockwin JM, Guay-Woodford LM. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology American Journal of Medical Genetics. 76: 137-144. PMID 9511976 DOI: 10.1002/(Sici)1096-8628(19980305)76:2<137::Aid-Ajmg6>3.0.Co;2-Q  0.363
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  0.408
1998 Somlo S. Polycystic kidney disease genes and polycystins Clinical and Experimental Nephrology. 2: 211-217. DOI: 10.1007/Bf02480560  0.566
1997 Viribay M, Hayashi T, Tellería D, Mochizuki T, Reynolds DM, Alonso R, Lens XM, Moreno F, Harris PC, Somlo S, San Millán JL. Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene Human Genetics. 101: 229-234. PMID 9402976 DOI: 10.1007/S004390050621  0.503
1997 Wu G, Mochizuki T, Le TC, Cai Y, Hayashi T, Reynolds DM, Somlo S. Molecular cloning, cDNA sequence analysis, and chromosomal localization of mouse Pkd2 Genomics. 45: 220-223. PMID 9339380 DOI: 10.1006/Geno.1997.4920  0.427
1997 Veldhuisen B, Saris JJ, De Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, Van Dijk MA, Coto E, Ravine D, Nørby S, Verellen-Dumoulin C, Breuning MH, ... Somlo S, et al. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2) American Journal of Human Genetics. 61: 547-555. PMID 9326320 DOI: 10.1086/515497  0.517
1997 Hayashi T, Mochizuki T, Reynolds DM, Wu G, Cai Y, Somlo S. Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2) Genomics. 44: 131-136. PMID 9286709 DOI: 10.1006/Geno.1997.4851  0.493
1997 Xenophontos S, Constantinides R, Hayashi T, Mochizuki T, Somlo S, Pierides A, Deltas CC. A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2). Human Molecular Genetics. 6: 949-52. PMID 9175744 DOI: 10.1093/Hmg/6.6.949  0.494
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  0.393
1997 Lens XM, Onuchic LF, Wu G, Hayashi T, Daoust M, Mochizuki T, Santarina LB, Stockwin JM, Mücher G, Becker J, Sweeny WE, Avner ED, Guay-Woodford L, Zerres K, Somlo S, et al. An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region. Genomics. 41: 463-6. PMID 9169147 DOI: 10.1006/Geno.1997.4671  0.38
1996 Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJM, Somlo S. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein Science. 272: 1339-1342. PMID 8650545 DOI: 10.1126/Science.272.5266.1339  0.49
1996 Daoust MC, Reynolds DM, Bichet DG, Somlo S. Evidence for a third genetic locus for autosomal dominant polycystic kidney disease Pediatric Nephrology. 10: 215-215. DOI: 10.1007/Bf00862086  0.488
1995 Daoust MC, Reynolds DM, Bichet DG, Somlo S. Evidence for a third genetic locus for autosomal dominant polycystic kidney disease Genomics. 25: 733-736. PMID 7759112 DOI: 10.1016/0888-7543(95)80020-M  0.49
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  0.511
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  0.52
1993 Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S. Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics. 18: 467-72. PMID 8307555 DOI: 10.1016/S0888-7543(11)80001-7  0.407
1992 Somlo S, Germino GG, Wirth B, Weinstat-Saslow D, Barton N, Gillespie GA, Frischauf AM, Reeders ST. The molecular genetics of autosomal-dominant polycystic kidney disease of the PKD1 type. Contributions to Nephrology. 97: 101-9. PMID 1633710 DOI: 10.1159/000421648  0.47
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  0.451
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  0.393
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  0.465
1992 Germino GG, Somlo S. A positional cloning approach to inherited renal disease. Seminars in Nephrology. 12: 541-553. DOI: 10.5555/Uri:Pii:0270929592900508  0.434
1991 Gillespie GA, Germino GG, Somlo S, Weinstat-Saslow D, Breuning MH, Reeders ST. Cosmid walking and chromosome jumping in the region of PKD1 reveal a locus duplication and three CpG islands. Nucleic Acids Research. 18: 7071-5. PMID 1979857 DOI: 10.1093/Nar/18.23.7071  0.331
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  0.481
1990 Parfrey PS, Bear JC, Morgan J, Cramer BC, McManamon PJ, Gault MH, Churchill DN, Singh M, Hewitt R, Somlo S. The diagnosis and prognosis of autosomal dominant polycystic kidney disease. The New England Journal of Medicine. 323: 1085-90. PMID 2215575 DOI: 10.1056/Nejm199010183231601  0.545
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