The Future of Polycystic Kidney Disease Research-As Seen By the 12 Kaplan Awardees

被引：33

作者：

Antignac, Corinne ^{[1
,2
,3
]}

Calvet, James P. ^{[4
]}

Germino, Gregory G. ^{[5
]}

Grantham, Jared J. ^{[4
]}

Guay-Woodford, Lisa M. ^{[6
]}

Harris, Peter C. ^{[7
]}

Hildebrandt, Friedhelm ^{[8
,9
]}

Peters, Dorien J. M. ^{[10
]}

Somlo, Stefan ^{[11
,12
]}

Torres, Vicente E. ^{[7
]}

Walz, Gerd ^{[13
]}

Zhou, Jing ^{[14
]}

Yu, Alan S. L. ^{[4
]}

机构：

[1] Paris Descartes Sorbonne Paris Cite Univ, Lab Inherited Kidney Dis, Natl Inst Hlth & Med Res, Paris, France

[2] Hop Necker Enfants Malad, Imagine Inst, Paris, France

[3] Hop Necker Enfants Malad, Dept Genet, Paris, France

[4] Univ Kansas, Med Ctr, Kidney Inst, Kansas City, KS 66160 USA

[5] NIDDK, Kidney Dis Branch, NIH, Bethesda, MD 20892 USA

[6] Childrens Natl Hlth Syst, Ctr Translat Sci, Washington, DC USA

[7] Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USA

[8] Harvard Univ, Sch Med, Howard Hughes Med Inst, Boston, MA 02115 USA

[9] Harvard Univ, Sch Med, Boston Childrens Hosp, Boston, MA 02115 USA

[10] Leiden Univ, Dept Human Genet, Med Ctr, NL-2300 RA Leiden, Netherlands

[11] Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06510 USA

[12] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA

[13] Univ Med Ctr Freiburg, Dept Med, Div Renal, Freiburg, Germany

[14] Harvard Univ, Brigham & Womens Hosp, Harvard Ctr Polycyst Kidney Dis Res, Renal Div,Dept Med,Med Sch, Boston, MA 02115 USA

来源：

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 2015年 / 26卷 / 09期

关键词：

PLANAR CELL POLARITY; PROXIMAL TUBULAR INJURY; AUTOSOMAL-DOMINANT; CYST FORMATION; PRIMARY CILIA; MOUSE MODEL; ATUBULAR GLOMERULI; INTERSTITIAL NEPHRITIS; 2-HIT MODEL; PROGRESSION;

D O I：

10.1681/ASN.2014121192

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Polycystic kidney disease (PKD) is one of the most common life-threatening genetic diseases. Jared J. Grantham, M.D., has done more than any other individual to promote PKD research around the world. However, despite decades of investigation there is still no approved therapy for PKD in the United States. In May 2014, the University of Kansas Medical Center hosted a symposium in Kansas City honoring the occasion of Dr. Grantham's retirement and invited all the awardees of the Lillian Jean Kaplan International Prize for Advancement in the Understanding of Polycystic Kidney Disease to participate in a forward-thinking and interactive forum focused on future directions and innovations in PKD research. This article summarizes the contributions of the 12 Kaplan awardees and their vision for the future of PKD research.

引用

页码：2081 / 2095

页数：15

共 111 条

[1] Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease [J].

Bergmann, Carsten ;

von Bothmer, Jennifer ;

Bruechle, Nadina Ortiz ;

Venghaus, Andreas ;

Frank, Valeska ;

Fehrenbach, Henry ;

Hampel, Tobias ;

Pape, Lars ;

Buske, Annegret ;

Jonsson, Jon ;

Sarioglu, Nanette ;

Santos, Antonia ;

Ferreira, Jose Carlos ;

Becker, Jan U. ;

Cremer, Reinhold ;

Hoefele, Julia ;

Benz, Marcus R. ;

Weber, Lutz T. ;

Buettner, Reinhard ;

Zerres, Klaus .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2011, 22 (11) :2047-2056

[2] Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1 [J].

Boddu, Ravindra ;

Yang, Chaozhe ;

O'Connor, Amber K. ;

Hendrickson, Robert Curtis ;

Boone, Braden ;

Cui, Xiangqin ;

Garcia-Gonzalez, Miguel ;

Igarashi, Peter ;

Onuchic, Luiz F. ;

Germino, Gregory G. ;

Guay-Woodford, Lisa M. .

JOURNAL OF MOLECULAR MEDICINE-JMM, 2014, 92 (10) :1045-1056

[3] Primary cilia regulate mTORC1 activity and cell size through Lkb1 [J].

Boehlke, Christopher ;

Kotsis, Fruzsina ;

Patel, Vishal ;

Braeg, Simone ;

Voelker, Henriette ;

Bredt, Saskia ;

Beyer, Theresa ;

Janusch, Heike ;

Hamann, Christoph ;

Goedel, Markus ;

Mueller, Klaus ;

Herbst, Martin ;

Hornung, Miriam ;

Doerken, Mara ;

Koettgen, Michael ;

Nitschke, Roland ;

Igarashi, Peter ;

Walz, Gerd ;

Kuehn, E. Wolfgang .

NATURE CELL BIOLOGY, 2010, 12 (11) :1115-U126

[4]

Boletta Alessandra, 2009, Pathogenetics, V2, P6, DOI 10.1186/1755-8417-2-6

[5] Low-Dose Rapamycin ( Sirolimus) Effects in Autosomal Dominant Polycystic Kidney Disease: An Open-Label Randomized Controlled Pilot Study [J].

Braun, William E. ;

Schold, Jesse D. ;

Stephany, Brian R. ;

Spirko, Rita A. ;

Herts, Brian R. .

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2014, 9 (05) :881-888

[6] Anoctamin 1 induces calcium-activated chloride secretion and proliferation of renal cyst-forming epithelial cells [J].

Buchholz, Bjoern ;

Faria, Diana ;

Schley, Gunnar ;

Schreiber, Rainer ;

Eckardt, Kai-Uwe ;

Kunzelmann, Karl .

KIDNEY INTERNATIONAL, 2014, 85 (05) :1058-1067

[7] CDK inhibitors R-roscovitine and S-CR8 effectively block renal and hepatic cystogenesis in an orthologous model of ADPKD [J].

Bukanov, Nikolay O. ;

Moreno, Sarah E. ;

Natoli, Thomas A. ;

Rogers, Kelly A. ;

Smith, Laurie A. ;

Ledbetter, Steven R. ;

Oumata, Nassima ;

Galons, Herve ;

Meijer, Laurent ;

Ibraghimov-Beskrovnaya, Oxana .

CELL CYCLE, 2012, 11 (21) :4040-4046

[8] Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling [J].

Chaki, Moumita ;

Airik, Rannar ;

Ghosh, Amiya K. ;

Giles, Rachel H. ;

Chen, Rui ;

Slaats, Gisela G. ;

Wang, Hui ;

Hurd, Toby W. ;

Zhou, Weibin ;

Cluckey, Andrew ;

Gee, Heon Yung ;

Ramaswami, Gokul ;

Hong, Chen-Jei ;

Hamilton, Bruce A. ;

Cervenka, Igor ;

Ganji, Ranjani Sri ;

Bryja, Vitezslav ;

Arts, Heleen H. ;

van Reeuwijk, Jeroen ;

Oud, Machteld M. ;

Letteboer, Stef J. F. ;

Roepman, Ronald ;

Husson, Herve ;

Ibraghimov-Beskrovnaya, Oxana ;

Yasunaga, Takayuki ;

Walz, Gerd ;

Eley, Lorraine ;

Sayer, John A. ;

Schermer, Bernhard ;

Liebau, Max C. ;

Benzing, Thomas ;

Le Corre, Stephanie ;

Drummond, Iain ;

Janssen, Sabine ;

Allen, Susan J. ;

Natarajan, Sivakumar ;

O'Toole, John F. ;

Attanasio, Massimo ;

Saunier, Sophie ;

Antignac, Corinne ;

Koenekoop, Robert K. ;

Ren, Huanan ;

Lopez, Irma ;

Nayir, Ahmet ;

Stoetzel, Corinne ;

Dollfus, Helene ;

Massoudi, Rustin ;

Gleeson, Joseph G. ;

Andreoli, Sharon P. ;

Doherty, Dan G. .

CELL, 2012, 150 (03) :533-548

[9] Generation and evolution of atubular glomeruli in the progression of renal disorders [J].

Chevalier, Robert L. ;

Forbes, Michael S. .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2008, 19 (02) :197-206

[10] A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS [J].

Cong, Evelyne Huynh ;

Bizet, Albane A. ;

Boyer, Olivia ;

Woerner, Stephanie ;

Gribouval, Olivier ;

Filhol, Emilie ;

Arrondel, Christelle ;

Thomas, Sophie ;

Silbermann, Flora ;

Canaud, Guillaume ;

Hachicha, Jamil ;

Ben Dhia, Nasr ;

Peraldi, Marie-Noelle ;

Harzallah, Kais ;

Iftene, Daouia ;

Daniel, Laurent ;

Willems, Marjolaine ;

Noel, Laure-Helene ;

Bole-Feysot, Christine ;

Nitschke, Patrick ;

Gubler, Marie-Claire ;

Mollet, Geraldine ;

Saunier, Sophie ;

Antignac, Corinne .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2014, 25 (11) :2435-2443

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