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Research Summary
The goal of our laboratory is to understand the human polycystic diseases of the kidney and liver so that specific treatments can be developed. As a group, these diseases result in the progressive disruption of the normal structure and function of the affected organs leading to the symptoms that patients experience. To achieve our goal, we begin by discovering the genes responsible for these diseases in patient families and then proceed to studying the functions of the protein products of these genes in cells and tissues. We have discovered nine genes for the polycystic diseases so far and we are working to understand how they normally work together to prevent disease from occurring. As we understand more and more about the normal functions of these human disease genes, we expect to successfully translate this understanding into specific treatments for patients and families affected by polycystic kidney and liver diseases.
Specialized Terms: Genetic kidney and liver disease; Cilia function; Polycystin function
The goal of our laboratory is to understand the human polycystic diseases of the kidney and liver so that specific treatments can be developed. As a group, these diseases result in the progressive disruption of the normal structure and function of the affected organs leading to the symptoms that patients experience. To achieve our goal, we begin by discovering the genes responsible for these diseases in patient families and then proceed to studying the functions of the protein products of these genes in cells and tissues. We have discovered nine genes for the polycystic diseases so far and we are working to understand how they normally work together to prevent disease from occurring. As we understand more and more about the normal functions of these human disease genes, we expect to successfully translate this understanding into specific treatments for patients and families affected by polycystic kidney and liver diseases.
Specialized Terms: Genetic kidney and liver disease; Cilia function; Polycystin function
研究兴趣
论文共 204 篇作者统计合作学者相似作者
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Bogdan I. Fedeles,Rishi Bhardwaj,Yasunobu Ishikawa,Sakunchai Khumsubdee,Matteus Krappitz,Nina Gubina, Isabel Volpe, Denise C. Andrade, Parisa Westergerling,Tobias Staudner, Jake Campolo, Sally S. Liu,
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICAno. 4 (2024): e2317344121-e2317344121
Kidney international reportsno. 10 (2023): 2182-2182
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Kidney360no. 3 (2023): 387-392
Laura Onuchic,Valeria Padovano,Giorgia Schena,Xiaojian Shi,Ke Dong, Vanathy Rajendran, Victoria Rai, Raj Pandya, Nikolay Gresko,Hongying Shen,Stefan Somlo,Michael Caplan
PHYSIOLOGY (2023)
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Matteus Krappitz,Rishi Bhardwaj,Ke Dong,Tobias Staudner,Duygu Elif Yilmaz,Carlotta Pioppini,Parisa Westergerling, David Ruemmele, Till Hollmann, Thuy Anh Nguyen,Yiqiang Cai,Anna-Rachel Gallagher,
Laura Onuchic,Valeria Padovano,Giorgia Schena,Vanathy Rajendran,Ke Dong,Xiaojian Shi, Raj Pandya, Victoria Rai,Nikolay P. Gresko, Omair Ahmed, TuKiet T. Lam, Weiwei Wang,
biorxiv(2023)
Kidney internationalno. 6 (2022): 1126-1141
Melanie Grosch, Katrin Brunner,Alexandr V Ilyaskin, Michael Schober,Tobias Staudner,Denise Schmied, Tina Stumpp, Kerstin N Schmidt,M Gregor Madej,Thaissa D Pessoa,Helga Othmen,Larissa Osten,
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