Publications

2026

APOL1-risk alleles modulate T-cell receptor signaling to promote allograft rejection
Pell J, Tanvir E, Sun Z, Chernova I, Reghuvaran A, Nagata S, Guerra M, Choi J, Al Chaar S, Mizuno H, Dong K, Tian X, Ishibe R, Franchin B, Cravedi P, Kumar A, Barsotti G, Shi H, Smithson S, Song W, He J, Chong A, Pober J, Somlo S, Gibson I, Popik W, Zhang Z, Craft J, Azzi J, Murakami N, Ishibe S, Heeger P, Menon M. APOL1-risk alleles modulate T-cell receptor signaling to promote allograft rejection. Journal Of Clinical Investigation 2026, 136: e193173. PMID: 42262888, PMCID: PMC13430025, DOI: 10.1172/jci193173.
Peer-Reviewed Original Research
Authors' Reply: Nephron-Segment Composition and Apparent Fatty Acid Oxidation Suppression in Pkd1KO+Glis3KO Kidneys
Wei Z, Gu J, Somlo S. Authors' Reply: Nephron-Segment Composition and Apparent Fatty Acid Oxidation Suppression in Pkd1KO+Glis3KO Kidneys. Journal Of The American Society Of Nephrology 2026, 37: 1841-1841. PMID: 42545752, PMCID: PMC13441086, DOI: 10.1681/asn.0000001038.
Commentaries, Editorials and Letters
Optimizing next-generation sequencing for genetic diagnosis in autosomal dominant polycystic kidney disease
Ma D, Cho S, Meng X, Knight J, Goralsky L, Peng G, Shaw M, Widomski A, Popa A, Zhao C, Dykas D, Tikhonova I, Bale A, Somlo S, Zhang H, Besse W. Optimizing next-generation sequencing for genetic diagnosis in autosomal dominant polycystic kidney disease. Genetics In Medicine 2026, 28: 102529. PMID: 41653026, DOI: 10.1016/j.gim.2026.102529.
Peer-Reviewed Original Research

2025

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping
Zheng W, Xie Y, Gu J, Li H, Somlo S, Besse W, Zhao H. PERADIGM: Phenotype embedding similarity-based rare disease gene mapping. PLOS Genetics 2025, 21: e1011976. PMID: 41411243, PMCID: PMC12714201, DOI: 10.1371/journal.pgen.1011976.
Peer-Reviewed Original Research
This study introduces PERADIGM, a method using patient similarity and electronic health records to identify genes influencing rare diseases, enhancing discovery beyond traditional approaches.
Full Summary
Glis3 Is a Modifier of Cyst Progression in Autosomal Dominant Polycystic Kidney Disease
Wei Z, Gu J, Tian X, Zhang C, Zhao H, Somlo S. Glis3 Is a Modifier of Cyst Progression in Autosomal Dominant Polycystic Kidney Disease. Journal Of The American Society Of Nephrology 2025, 37: 1423-1437. PMID: 41563804, PMCID: PMC13337165, DOI: 10.1681/asn.0000000980.
Peer-Reviewed Original Research
This study investigates how Glis3, a cilia-localized transcription factor, worsens cyst progression in polycystic kidney disease by disrupting fatty acid metabolism and circadian regulation.
Full Summary

2024

Efficient and selective kidney targeting by chemically modified carbohydrate conjugates
Kumar V, Wahane A, Tham M, Somlo S, Gupta A, Bahal R. Efficient and selective kidney targeting by chemically modified carbohydrate conjugates. Molecular Therapy 2024, 32: 4383-4400. PMID: 39532098, PMCID: PMC11638880, DOI: 10.1016/j.ymthe.2024.10.020.
Peer-Reviewed Original Research
Adamts1 and Cyst Expansion in Polycystic Kidney Disease
Kakade V, Akman Z, Motrapu M, Cassini M, Xu L, Moeckel G, Somlo S, Cantley L. Adamts1 and Cyst Expansion in Polycystic Kidney Disease. Journal Of The American Society Of Nephrology 2024, 36: 559-570. PMID: 39514301, PMCID: PMC11975248, DOI: 10.1681/asn.0000000557.
Peer-Reviewed Original Research
Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease
Zhang C, Rehman M, Tian X, Pei S, Gu J, Bell T, Dong K, Tham M, Cai Y, Wei Z, Behrens F, Jetten A, Zhao H, Lek M, Somlo S. Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease. Nature Communications 2024, 15: 3698. PMID: 38693102, PMCID: PMC11063051, DOI: 10.1038/s41467-024-48025-6.
Peer-Reviewed Original Research
MeSH Keywords
Genetic Analysis of Severe Polycystic Liver Disease in Japan
Mizuno H, Besse W, Sekine A, Long K, Kurihara S, Oba Y, Yamanouchi M, Hasegawa E, Suwabe T, Sawa N, Ubara Y, Somlo S, Hoshino J. Genetic Analysis of Severe Polycystic Liver Disease in Japan. Kidney360 2024, 5: 1106-1115. PMID: 38689396, PMCID: PMC11371350, DOI: 10.34067/kid.0000000000000461.
Peer-Reviewed Original Research
A synthetic agent ameliorates polycystic kidney disease by promoting apoptosis of cystic cells through increased oxidative stress
Fedeles B, Bhardwaj R, Ishikawa Y, Khumsubdee S, Krappitz M, Gubina N, Volpe I, Andrade D, Westergerling P, Staudner T, Campolo J, Liu S, Dong K, Cai Y, Rehman M, Gallagher A, Ruchirawat S, Croy R, Essigmann J, Fedeles S, Somlo S. A synthetic agent ameliorates polycystic kidney disease by promoting apoptosis of cystic cells through increased oxidative stress. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2317344121. PMID: 38241440, PMCID: PMC10823221, DOI: 10.1073/pnas.2317344121.
Peer-Reviewed Original Research
MeSH Keywords

2023

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet M, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller R, Berg T, Patterson I, Griffiths W, Sayer J, Consortium G, Ambrose J, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred C, Brittain H, Caulfield M, Chan G, Elgar G, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard T, Jackson R, Jones L, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh S, Leong I, Lopez J, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need A, O’Donovan P, Odhams C, Patch C, Pereira M, Perez-Gil D, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott R, Siddiq A, Sieghart A, Smith S, Sosinsky A, Stuckey A, Tanguy M, Tavares A, Thomas E, Thompson S, Tucci A, Welland M, Williams E, Witkowska K, Wood S, Popp B, Torres V, Hogan M, Somlo S, Watnick T, Nevens F, Besse W, Gall E, Harris P, Drenth J, Halbritter J. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease. Gastroenterology 2023, 166: 902-914. PMID: 38101549, DOI: 10.1053/j.gastro.2023.12.007.
Peer-Reviewed Original Research
Inactivation of Ire1alpha Endoribonuclease Domain Slows Down ADPKD in Orthologous Mouse Models
Bhardwaj R, Volpe I, Yilmaz D, Pioppini C, Roy K, Rehman M, Cai Y, Krappitz M, Somlo S, Fedeles S. Inactivation of Ire1alpha Endoribonuclease Domain Slows Down ADPKD in Orthologous Mouse Models. Journal Of The American Society Of Nephrology 2023, 34: 19-19. DOI: 10.1681/asn.20233411s119b.
Peer-Reviewed Original Research
Dephosphorylation Facilitates Trafficking of Mutant Polycystin-2 to Cilia
Cai Y, Dong K, Spitzer M, Geiges L, Tian X, Krappitz M, Diggs L, Wei Z, Cordido A, Pei S, Fedeles S, Somlo S. Dephosphorylation Facilitates Trafficking of Mutant Polycystin-2 to Cilia. Journal Of The American Society Of Nephrology 2023, 34: 560-560. DOI: 10.1681/asn.20233411s1560b.
Peer-Reviewed Original Research
Corrigendum to “WCN23-1242 Genetic interaction between XBP1 and Pkd1 modulates ADPKD progression” [Kidney International Reports Volume 8, Issue 3, Supplement, March 2023, Page S250]
Krappitz M, Pioppini C, Bhardwaj R, Duygu E, Hollmann T, Somlo S, Fedeles S. Corrigendum to “WCN23-1242 Genetic interaction between XBP1 and Pkd1 modulates ADPKD progression” [Kidney International Reports Volume 8, Issue 3, Supplement, March 2023, Page S250]. Kidney International Reports 2023, 8: 2182. PMID: 37850015, PMCID: PMC10577355, DOI: 10.1016/j.ekir.2023.08.001.
Commentaries, Editorials and Letters
The C-terminal tail of polycystin-1 suppresses cystic disease in a mitochondrial enzyme-dependent fashion
Onuchic L, Padovano V, Dong K, Pandya R, Rai V, Ahmed O, Lam T, Wang W, Shen H, Somlo S, Caplan M. The C-terminal tail of polycystin-1 suppresses cystic disease in a mitochondrial enzyme-dependent fashion. Nature Communications 2023, 14: 1790. PMID: 36997516, PMCID: PMC10063565, DOI: 10.1038/s41467-023-37449-1.
Peer-Reviewed Original Research
MeSH Keywords
Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease
Hartung E, Clark S, Moudgil A, Goodwin J, Somlo S. Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease. Kidney360 2023, 4: 387-392. PMID: 36706243, PMCID: PMC10103195, DOI: 10.34067/kid.0000000000000064.
Peer-Reviewed Original Research
MeSH Keywords

2022

Pkd2 Re-Expression Can Reverse Liver Cysts and Improve GFR in Mouse Models of Autosomal Dominant Polycystic Kidney Disease
Dong K, Tham M, Cordido A, Cai Y, Pei S, Bhardwaj R, Wei Z, Rehman M, Roy K, Tian X, Somlo S. Pkd2 Re-Expression Can Reverse Liver Cysts and Improve GFR in Mouse Models of Autosomal Dominant Polycystic Kidney Disease. Journal Of The American Society Of Nephrology 2022, 33: 418-418. DOI: 10.1681/asn.20223311s1418c.
Peer-Reviewed Original Research
XBP1 Activation Reduces Severity of Polycystic Kidney Disease due to a Nontruncating Polycystin-1 Mutation in Mice
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 Polycystin-1 Mutation in Mice. Journal Of The American Society Of Nephrology 2022, 34: 110-121. PMID: 36270750, PMCID: PMC10101557, DOI: 10.1681/asn.2021091180.
Peer-Reviewed Original Research
MeSH Keywords
An update on ductal plate malformations and fibropolycystic diseases of the liver
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 2022, 132: 102-113. PMID: 35777701, DOI: 10.1016/j.humpath.2022.06.022.
Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
MeSH Keywords
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Participants K, Köttgen A, Gall E, Halbritter J, Kiryluk K, Mallett A, Parekh R, Rasouly H, Sampson M, Tin A, Antignac C, Ars E, Bergmann C, Bleyer A, Bockenhauer D, Devuyst O, Florez J, Fowler K, Franceschini N, Fukagawa M, Gale D, Gbadegesin R, Goldstein D, Grams M, Greka A, Gross O, Guay-Woodford L, Harris P, Hoefele J, Hung A, Knoers N, Kopp J, Kretzler M, Lanktree M, Lipska-Ziętkiewicz B, Nicholls K, Nozu K, Ojo A, Parsa A, Pattaro C, Pei Y, Pollak M, Rhee E, Sanna-Cherchi S, Savige J, Sayer J, Scolari F, Sedor J, Sim X, Somlo S, Susztak K, Tayo B, Torra R, van Eerde A, Weinstock A, Winkler C, Wuttke M, Zhang H, King J, Cheung M, Jadoul M, Winkelmayer W, Gharavi A. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International 2022, 101: 1126-1141. PMID: 35460632, PMCID: PMC9922534, DOI: 10.1016/j.kint.2022.03.019.
Peer-Reviewed Original Research
MeSH Keywords

2021

Interdependent Regulation of Polycystin Expression Influences Starvation-Induced Autophagy and Cell Death
Decuypere JP, Van Giel D, Janssens P, Dong K, Somlo S, Cai Y, Mekahli D, Vennekens R. Interdependent Regulation of Polycystin Expression Influences Starvation-Induced Autophagy and Cell Death. International Journal Of Molecular Sciences 2021, 22: 13511. PMID: 34948309, PMCID: PMC8706473, DOI: 10.3390/ijms222413511.
Peer-Reviewed Original Research
MeSH Keywords
Renal plasticity revealed through reversal of polycystic kidney disease in mice
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 2021, 53: 1649-1663. PMID: 34635846, PMCID: PMC9278957, DOI: 10.1038/s41588-021-00946-4.
Peer-Reviewed Original Research
MeSH Keywords
A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts
Grosch M, Brunner K, Ilyaskin AV, Schober M, Staudner T, Schmied D, Stumpp T, Schmidt KN, Madej MG, Pessoa TD, Othmen H, Kubitza M, Osten L, de Vries U, Mair MM, Somlo S, Moser M, Kunzelmann K, Ziegler C, Haerteis S, Korbmacher C, Witzgall R. A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts. Journal Of Cell Science 2021, 134: jcs259013. PMID: 34345895, PMCID: PMC8435292, DOI: 10.1242/jcs.259013.
Peer-Reviewed Original Research
MeSH Keywords
Restoration of proximal tubule flow-activated transport prevents cyst growth in polycystic kidney disease
Du Z, Tian X, Ma M, Somlo S, Weinstein AM, Wang T. Restoration of proximal tubule flow-activated transport prevents cyst growth in polycystic kidney disease. JCI Insight 2021, 6: e146041. PMID: 33886508, PMCID: PMC8262298, DOI: 10.1172/jci.insight.146041.
Peer-Reviewed Original Research
MeSH Keywords

2020

Disrupting polycystin-2 EF hand Ca2+ affinity does not alter channel function or contribute to polycystic kidney disease
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 Ca2+ affinity does not alter channel function or contribute to polycystic kidney disease. Journal Of Cell Science 2020, 133: jcs255562. PMID: 33199522, PMCID: PMC7774883, DOI: 10.1242/jcs.255562.
Peer-Reviewed Original Research
MeSH Keywords