Whitney Besse, MD

• Dhanpat Jain
• Neera Dahl
• Sherry Mansour
• Stefan Somlo
• Ursula C Brewster

Genetics; Kidney Diseases; Polycystic Kidney Diseases; Polycystic Kidney, Autosomal Dominant; Health Care; Exome Sequencing

• Dnajb11-Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in MiceRoy S, Li Z, Guo Z, Long K, Rehrl S, Tian X, Dong K, Besse W. Dnajb11-Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice. Journal Of The American Society Of Nephrology 2023, 34: 1521-1534. PMID: 37332102, PMCID: PMC10482070, DOI: 10.1681/asn.0000000000000164.
• ALG9 Mutation Carriers Develop Kidney and Liver CystsBesse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S, Center R, Torres VE, Somlo S, Mirshahi T. ALG9 Mutation Carriers Develop Kidney and Liver Cysts. Journal Of The American Society Of Nephrology 2019, 30: 2091-2102. PMID: 31395617, PMCID: PMC6830805, DOI: 10.1681/asn.2019030298.
• Isolated polycystic liver disease genes define effectors of polycystin-1 functionBesse 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, Watnick T, Pei YP, Torres VE, Somlo S. Isolated polycystic liver disease genes define effectors of polycystin-1 function. Journal Of Clinical Investigation 2017, 127: 1772-1785. PMID: 28375157, PMCID: PMC5409105, DOI: 10.1172/jci90129.
• Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease.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 2020, 1: 1068-1076. PMID: 33554127, PMCID: PMC7861569, DOI: 10.34067/kid.0002522020.
• Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney DiseaseGall 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, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE, Group G, Group T, Disease T, Harris PC. Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. American Journal Of Human Genetics 2018, 102: 832-844. PMID: 29706351, PMCID: PMC5986722, DOI: 10.1016/j.ajhg.2018.03.013.
• A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large familyBesse W, Choi J, Ahram D, Mane S, Sanna‐Cherchi S, Torres V, Somlo S. A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Human Mutation 2018, 39: 378-382. PMID: 29243290, PMCID: PMC5805583, DOI: 10.1002/humu.23383.
• Sex, genotype, and liver volume progression as risk of hospitalization determinants in autosomal dominant polycystic liver diseaseSchönauer 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, 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, Taylor 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, Cornec-Le 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 PMID: 38101549, DOI: 10.1053/j.gastro.2023.12.007.
• Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical ManagementHanna C, Iliuta I, Besse W, Mekahli D, Chebib F. Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management. Seminars In Nephrology 2023, 43: 151434. PMID: 37996359, DOI: 10.1016/j.semnephrol.2023.151434.
• KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney diseaseBoulogne F, Claus L, Wiersma H, Oelen R, Schukking F, de Klein N, Li S, Westra H, van der Zwaag B, van Reekum F, Sierks D, Schönauer R, Li Z, Bijlsma E, Bos W, Halbritter J, Knoers N, Besse W, Deelen P, Franke L, van Eerde A. KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease. European Journal Of Human Genetics 2023, 31: 1300-1308. PMID: 36807342, PMCID: PMC10620423, DOI: 10.1038/s41431-023-01296-x.
• A pathogenic variant of TULP3 causes renal and hepatic fibrocystic diseaseKhamirani H, Palicharla VR, Dastgheib SA, Dianatpour M, Imanieh MH, Tabei SS, Besse W, Mukhopadhyay S, Liem KF. A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease. Frontiers In Genetics 2022, 13: 1021037. PMID: 36276950, PMCID: PMC9585244, DOI: 10.3389/fgene.2022.1021037.
• A Practical Guide to Genetic Testing for Kidney Disorders of Unknown EtiologyAron AW, Dahl NK, Besse W. A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology. Kidney360 2022, 3: 1640-1651. PMID: 36245662, PMCID: PMC9528385, DOI: 10.34067/kid.0007552021.
• An update on ductal plate malformations and fibropolycystic diseases of the liverMirza 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.
• Genetic Diseases Associated with Tubulointerstitial NephritisWolf M, Besse W, Bleyer A, Dahl N. Genetic Diseases Associated with Tubulointerstitial Nephritis. 2022, 139-160. DOI: 10.1007/978-3-030-93438-5_11.
• Genetic Analysis in Kidney Disease: Advancing Clinical Diagnosis and Research Discovery.Besse W. Genetic Analysis in Kidney Disease: Advancing Clinical Diagnosis and Research Discovery. Kidney360 2020, 1: 720-723. PMID: 34327334, PMCID: PMC8317592, DOI: 10.34067/kid.0003632020.
• Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver DiseaseWilson EM, Choi J, Torres VE, Somlo S, Besse W. Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease. Kidney International Reports 2020, 5: 727-731. PMID: 32405593, PMCID: PMC7210741, DOI: 10.1016/j.ekir.2020.01.009.
• Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKDGulati 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 2019, 5: 103-108. PMID: 31922066, PMCID: PMC6943786, DOI: 10.1016/j.ekir.2019.09.004.
• Collapsing glomerulopathy in a young woman with APOL1 risk alleles following acute parvovirus B19 infection: a case report investigationBesse W, Mansour S, Jatwani K, Nast CC, Brewster UC. Collapsing glomerulopathy in a young woman with APOL1 risk alleles following acute parvovirus B19 infection: a case report investigation. BMC Nephrology 2016, 17: 125. PMID: 27600725, PMCID: PMC5013576, DOI: 10.1186/s12882-016-0330-7.
• Circulating Caspase-3 P17 Peptide Fragment in Patients with Heart FailureAgosto M, Besse W, Owusu P, Tate J, Schumacher J, Barry M, Wencker D, Hager D, Liang B. Circulating Caspase-3 P17 Peptide Fragment in Patients with Heart Failure. Journal Of Cardiac Failure 2009, 15: s75. DOI: 10.1016/j.cardfail.2009.06.171.
• Ectopic expression of peripheral-tissue antigens in the thymic epithelium: Probabilistic, monoallelic, misinitiatedVillaseñor J, Besse W, Benoist C, Mathis D. Ectopic expression of peripheral-tissue antigens in the thymic epithelium: Probabilistic, monoallelic, misinitiated. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 15854-15859. PMID: 18836079, PMCID: PMC2572966, DOI: 10.1073/pnas.0808069105.
• Signatures of strong population differentiation shape extended haplotypes across the human CD28, CTLA4, and ICOS costimulatory genesButty V, Roy M, Sabeti P, Besse W, Benoist C, Mathis D. Signatures of strong population differentiation shape extended haplotypes across the human CD28, CTLA4, and ICOS costimulatory genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2007, 104: 570-575. PMID: 17197413, PMCID: PMC1766426, DOI: 10.1073/pnas.0610124104.
• Altered Natural Killer Cells in Type 1 Diabetic PatientsRodacki M, Svoren B, Butty V, Besse W, Laffel L, Benoist C, Mathis D. Altered Natural Killer Cells in Type 1 Diabetic Patients. Diabetes 2007, 56: 177-185. PMID: 17192480, DOI: 10.2337/db06-0493.
• Variation in IL-1β gene expression is a major determinant of genetic differences in arthritis aggressivity in miceOhmura K, Johnsen A, Ortiz-Lopez A, Desany P, Roy M, Besse W, Rogus J, Bogue M, Puech A, Lathrop M, Mathis D, Benoist C. Variation in IL-1β gene expression is a major determinant of genetic differences in arthritis aggressivity in mice. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 12489-12494. PMID: 16113081, PMCID: PMC1194932, DOI: 10.1073/pnas.0504325102.