Whitney Besse, Ke Dong, Jungmin Choi, Sohan Punia, Sorin V. Fedeles, Murim Choi, Anna-Rachel Gallagher, Emily B. Huang, Ashima Gulati, James Knight, Shrikant Mane, Esa Tahvanainen, Pia Tahvanainen, Simone Sanna-Cherchi, Richard P. Lifton, Terry Watnick, York P. Pei, Vicente E. Torres, Stefan Somlo
Title and authors | Publication | Year |
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Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish
Meng L, Fang Z, Jiang L, Zheng Y, Hong S, Deng Y, Xie L |
Orphanet Journal of Rare Diseases | 2025 |
The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease
Righini M, Corsi C, Sciascia N, Aiello V, Ciurli F, Lerario S, Berti GM, Montanari F, Conti A, Cristalli CP, Menabò S, Caramanna L, Tondolo F, Turchetti D, La Manna G, Capelli I |
Journal of Nephrology | 2025 |
Genetic Analysis of Severe Polycystic Liver Disease in Japan
Mizuno H, Besse W, Sekine A, Long KT, Kurihara S, Oba Y, Yamanouchi M, Hasegawa E, Suwabe T, Sawa N, Ubara Y, Somlo S, Hoshino J |
Kidney360 | 2024 |
SETD2 deficiency accelerates sphingomyelin accumulation and promotes the development of renal cancer
Rao H, Liu C, Wang A, Ma C, Xu Y, Ye T, Su W, Zhou P, Gao WQ, Li L, Ding X |
Nature Communications | 2023 |
DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.
Aiello V, Ciurli F, Conti A, Cristalli CP, Lerario S, Montanari F, Sciascia N, Vischini G, Fabbrizio B, Di Costanzo R, Olivucci G, Pietra A, Lopez A, Zambianchi L, La Manna G, Capelli I |
Genes & development | 2023 |
The VUS Challenge in Cystic Kidney Disease: A Case-Based Review.
Aklilu AM, Gulati A, Kolber KJ, Yang H, Harris PC, Dahl NK |
2023 | |
Clinical findings, underlying pathogenetic processes and treatment of vascular dysfunction in autosomal dominant polycystic kidney disease
Zhu J, Liu F, Mao J |
Renal Failure | 2023 |
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis
Lemoine H, Raud L, Foulquier F, Sayer JA, Lambert B, Olinger E, Lefèvre S, Knebelmann B, Harris PC, Trouvé P, Desprès A, Duneau G, Matignon M, Poyet A, Jourde-Chiche N, Guerrot D, Lemoine S, Seret G, Barroso-Gil M, Bingham C, Gilbert R, Le Meur Y, Audrézet MP, Cornec-Le Gall E |
The American Journal of Human Genetics | 2022 |
Molecular Mechanisms of Isolated Polycystic Liver Diseases
Z Yu, X Shen, C Hu, J Zeng, A Wang, J Chen |
Frontiers in Genetics | 2022 |
A missense mutation in the proprotein convertase gene furinb causes hepatic cystogenesis during liver development in zebrafish
J Ellis, K Evason, C Zhang, M Fourman, J Liu, N Ninov, M Delous, B Vanhollebeke, I Fiddes, J Otis, Y Houvras, S Farber, X Xu, X Lin, D Stainier, C Yin |
Hepatology Communications | 2022 |
Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
Chang AR, Moore BS, Luo JZ, Sartori G, Fang B, Jacobs S, Abdalla Y, Taher M, Carey DJ, Triffo WJ, Singh G, Mirshahi T |
Journal of the American Medical Association | 2022 |
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 |
Journal of the American Society of Nephrology : JASN | 2022 |
Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease
A Cordido, M Vizoso-Gonzalez, MA Garcia-Gonzalez |
International journal of molecular sciences | 2021 |
Clinical Molecular Diagnostics
S Pan, J Tang |
2021 | |
Renal cystic diseases during the perinatal and neonatal period
R Raina, M DeCoy, R Chakraborty, S Mahajan, R Moran, K Gibson, D Kumar, C Bergmann |
Journal of Neonatal-Perinatal Medicine | 2021 |
Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies
MB Lanktree, A Haghighi, I di Bari, X Song, Y Pei |
Clinical journal of the American Society of Nephrology : CJASN | 2020 |
Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia
EV Nieuwenhove, JS Barber, J Neumann, E Smeets, M Willemsen, E Pasciuto, T Prezzemolo, V Lagou, L Seldeslachts, B Malengier-Devlies, M Metzemaekers, S Haßdenteufel, A Kerstens, R van der Kant, F Rousseau, J Schymkowitz, DD Marino, S Lang, R Zimmermann, S Schlenner, S Munck, P Proost, P Matthys, C Devalck, N Boeckx, F Claessens, C Wouters, S Humblet-Baron, I Meyts, A Liston |
Journal of Allergy and Clinical Immunology | 2020 |
Pathway identification through transcriptome analysis
Terabayashi T, Germino GG, Menezes LF |
Cellular Signalling | 2020 |
Large deletions in GANAB and SEC63 explain two cases of polycystic kidney and liver disease
EM Wilson, J Choi, VE Torres, S Somlo, W Besse |
Kidney International Reports | 2020 |
The Liver: Biology and Pathobiology
IM Arias, HJ Alter, JL Boyer, DE Cohen, DA Shafritz, SS Thorgeirsson, AW Wolkoff |
2020 | |
Imaging of the Liver and Intra-hepatic Biliary Tract: Volume 1: Imaging Techniques and Non-tumoral Pathologies
E Quaia |
2020 | |
Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease
W Besse, C Roosendaal, L Tuccillo, SG Roy, AR Gallagher, S Somlo |
2020 | |
Pansomatostatin Agonist Pasireotide Long-Acting Release for Patients with Autosomal Dominant Polycystic Kidney or Liver Disease with Severe Liver Involvement: A Randomized Clinical Trial
MC Hogan, JA Chamberlin, LE Vaughan, AL Waits, C Banks, K Leistikow, T Oftsie, C Madsen, M Edwards, J Glockner, WK Kremers, PC Harris, NF LaRusso, VE Torres, TV Masyuk |
Clinical journal of the American Society of Nephrology : CJASN | 2020 |
Polycystic kidney disease: new knowledge and future promises
JN Foo, Y Xia |
Current Opinion in Genetics & Development | 2019 |
GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease
E Waldrop, MA Al-Obaide, TL Vasylyeva |
Frontiers in Genetics | 2019 |
Exome-Based Rare-Variant Analyses in CKD
S Cameron-Christie, CJ Wolock, E Groopman, S Petrovski, S Kamalakaran, G Povysil, D Vitsios, M Zhang, J Fleckner, RE March, S Gelfman, M Marasa, Y Li, S Sanna-Cherchi, K Kiryluk, AS Allen, BC Fellström, C Haefliger, A Platt, DB Goldstein, AG Gharavi |
Journal of the American Society of Nephrology : JASN | 2019 |
New Ways of Finding New Genes for Old Diseases
RN Sandford |
Journal of the American Society of Nephrology : JASN | 2019 |
ALG9 Mutation Carriers Develop Kidney and Liver Cysts
W Besse, AR Chang, JZ Luo, WJ Triffo, BS Moore, A Gulati, DN Hartzel, S Mane, VE Torres, S Somlo, T Mirshahi |
Journal of the American Society of Nephrology : JASN | 2019 |
Polycystic kidney disease
C Bergmann, LM Guay-Woodford, PC Harris, S Horie, DJ Peters, VE Torres |
Nature Reviews Disease Primers | 2018 |
Genetics and mechanisms of hepatic cystogenesis
LF van de Laarschot, JP Drenth |
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | 2018 |
Combination of a Histone Deacetylase 6 Inhibitor and a Somatostatin Receptor Agonist Synergistically Reduces Hepatorenal Cystogenesis in an Animal Model of Polycystic Liver Disease
ML Pisarello, TV Masyuk, SA Gradilone, AI Masyuk, JF Ding, PY Lee, NF LaRusso |
The American Journal of Pathology | 2018 |
The Genetic and Cellular Basis of Autosomal Dominant Polycystic Kidney Disease—A Primer for Clinicians
A Cordido, L Besada-Cerecedo, MA García-González |
Frontiers in Pediatrics | 2017 |