Publications by authors named "Tobias Hermle"

26Publications

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Authors:
Dervla M Connaughton Rufeng Dai Danielle J Owen Jonathan Marquez Nina Mann Adda L Graham-Paquin Makiko Nakayama Etienne Coyaud Estelle M N Laurent Jonathan R St-Germain Lot Snijders Blok Arianna Vino Verena Klämbt Konstantin Deutsch Chen-Han Wilfred Wu Caroline M Kolvenbach Franziska Kause Isabel Ottlewski Ronen Schneider Thomas M Kitzler Amar J Majmundar Florian Buerger Ana C Onuchic-Whitford Mao Youying Amy Kolb Daanya Salmanullah Evan Chen Amelie T van der Ven Jia Rao Hadas Ityel Steve Seltzsam Johanna M Rieke Jing Chen Asaf Vivante Daw-Yang Hwang Stefan Kohl Gabriel C Dworschak Tobias Hermle Mariëlle Alders Tobias Bartolomaeus Stuart B Bauer Michelle A Baum Eva H Brilstra Thomas D Challman Jacob Zyskind Carrie E Costin Katrina M Dipple Floor A Duijkers Marcia Ferguson David R Fitzpatrick Roger Fick Ian A Glass Peter J Hulick Antonie D Kline Ilona Krey Selvin Kumar Weining Lu Elysa J Marco Ingrid M Wentzensen Heather C Mefford Konrad Platzer Inna S Povolotskaya Juliann M Savatt Natalia V Shcherbakova Prabha Senguttuvan Audrey E Squire Deborah R Stein Isabelle Thiffault Victoria Y Voinova Michael J G Somers Michael A Ferguson Avram Z Traum Ghaleb H Daouk Ankana Daga Nancy M Rodig Paulien A Terhal Ellen van Binsbergen Loai A Eid Velibor Tasic Hila Milo Rasouly Tze Y Lim Dina F Ahram Ali G Gharavi Heiko M Reutter Heidi L Rehm Daniel G MacArthur Monkol Lek Kristen M Laricchia Richard P Lifton Hong Xu Shrikant M Mane Simone Sanna-Cherchi Andrew D Sharrocks Brian Raught Simon E Fisher Maxime Bouchard Mustafa K Khokha Shirlee Shril Friedhelm Hildebrandt

Am J Hum Genet 2020 Oct 4;107(4):727-742. Epub 2020 Sep 4.

Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536580PMC
October 2020

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

Authors:
Alexander Teumer Yong Li Sahar Ghasemi Bram P Prins Matthias Wuttke Tobias Hermle Ayush Giri Karsten B Sieber Chengxiang Qiu Holger Kirsten Adrienne Tin Audrey Y Chu Nisha Bansal Mary F Feitosa Lihua Wang Jin-Fang Chai Massimiliano Cocca Christian Fuchsberger Mathias Gorski Anselm Hoppmann Katrin Horn Man Li Jonathan Marten Damia Noce Teresa Nutile Sanaz Sedaghat Gardar Sveinbjornsson Bamidele O Tayo Peter J van der Most Yizhe Xu Zhi Yu Lea Gerstner Johan Ärnlöv Stephan J L Bakker Daniela Baptista Mary L Biggs Eric Boerwinkle Hermann Brenner Ralph Burkhardt Robert J Carroll Miao-Li Chee Miao-Ling Chee Mengmeng Chen Ching-Yu Cheng James P Cook Josef Coresh Tanguy Corre John Danesh Martin H de Borst Alessandro De Grandi Renée de Mutsert Aiko P J de Vries Frauke Degenhardt Katalin Dittrich Jasmin Divers Kai-Uwe Eckardt Georg Ehret Karlhans Endlich Janine F Felix Oscar H Franco Andre Franke Barry I Freedman Sandra Freitag-Wolf Ron T Gansevoort Vilmantas Giedraitis Martin Gögele Franziska Grundner-Culemann Daniel F Gudbjartsson Vilmundur Gudnason Pavel Hamet Tamara B Harris Andrew A Hicks Hilma Holm Valencia Hui Xian Foo Shih-Jen Hwang M Arfan Ikram Erik Ingelsson Vincent W V Jaddoe Johanna Jakobsdottir Navya Shilpa Josyula Bettina Jung Mika Kähönen Chiea-Chuen Khor Wieland Kiess Wolfgang Koenig Antje Körner Peter Kovacs Holly Kramer Bernhard K Krämer Florian Kronenberg Leslie A Lange Carl D Langefeld Jeannette Jen-Mai Lee Terho Lehtimäki Wolfgang Lieb Su-Chi Lim Lars Lind Cecilia M Lindgren Jianjun Liu Markus Loeffler Leo-Pekka Lyytikäinen Anubha Mahajan Joseph C Maranville Deborah Mascalzoni Barbara McMullen Christa Meisinger Thomas Meitinger Kozeta Miliku Dennis O Mook-Kanamori Martina Müller-Nurasyid Josyf C Mychaleckyj Matthias Nauck Kjell Nikus Boting Ning Raymond Noordam Jeffrey O' Connell Isleifur Olafsson Nicholette D Palmer Annette Peters Anna I Podgornaia Belen Ponte Tanja Poulain Peter P Pramstaller Ton J Rabelink Laura M Raffield Dermot F Reilly Rainer Rettig Myriam Rheinberger Kenneth M Rice Fernando Rivadeneira Heiko Runz Kathleen A Ryan Charumathi Sabanayagam Kai-Uwe Saum Ben Schöttker Christian M Shaffer Yuan Shi Albert V Smith Konstantin Strauch Michael Stumvoll Benjamin B Sun Silke Szymczak E-Shyong Tai Nicholas Y Q Tan Kent D Taylor Andrej Teren Yih-Chung Tham Joachim Thiery Chris H L Thio Hauke Thomsen Unnur Thorsteinsdottir Anke Tönjes Johanne Tremblay André G Uitterlinden Pim van der Harst Niek Verweij Suzanne Vogelezang Uwe Völker Melanie Waldenberger Chaolong Wang Otis D Wilson Charlene Wong Tien-Yin Wong Qiong Yang Masayuki Yasuda Shreeram Akilesh Murielle Bochud Carsten A Böger Olivier Devuyst Todd L Edwards Kevin Ho Andrew P Morris Afshin Parsa Sarah A Pendergrass Bruce M Psaty Jerome I Rotter Kari Stefansson James G Wilson Katalin Susztak Harold Snieder Iris M Heid Markus Scholz Adam S Butterworth Adriana M Hung Cristian Pattaro Anna Köttgen

Nat Commun 2019 09 11;10(1):4130. Epub 2019 Sep 11.

Institute of Genetic Epidemiology, Department of Biometry, Epidemiology and Medical Bioinformatics, Faculty of Medicine and Medical Center - University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1038/s41467-019-11576-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6739370PMC
September 2019

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

J Am Soc Nephrol 2018 09 24;29(9):2348-2361. Epub 2018 Aug 24.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;

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http://www.jasn.org/lookup/doi/10.1681/ASN.2017121265
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http://dx.doi.org/10.1681/ASN.2017121265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115658PMC
September 2018

ATP6AP2 functions as a V-ATPase assembly factor in the endoplasmic reticulum.

Mol Biol Cell 2018 09 11;29(18):2156-2164. Epub 2018 Jul 11.

Imagine Institute, Paris Descartes University-Sorbonne Paris Cité, 75015 Paris, France.

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http://dx.doi.org/10.1091/mbc.E18-04-0234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249795PMC
September 2018

Using the Nephrocyte to Model Podocyte Function and Disease.

Front Pediatr 2017 7;5:262. Epub 2017 Dec 7.

Renal Division, University Medical Center Freiburg, Freiburg, Germany.

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http://journal.frontiersin.org/article/10.3389/fped.2017.002
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http://dx.doi.org/10.3389/fped.2017.00262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5725439PMC
December 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Modeling Monogenic Human Nephrotic Syndrome in the Garland Cell Nephrocyte.

J Am Soc Nephrol 2017 May 8;28(5):1521-1533. Epub 2016 Dec 8.

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;

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http://dx.doi.org/10.1681/ASN.2016050517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407722PMC
May 2017

V-ATPase/mTOR signaling regulates megalin-mediated apical endocytosis.

Cell Rep 2014 Jul 19;8(1):10-9. Epub 2014 Jun 19.

Center for Systems Biology (ZBSA), University of Freiburg, Habsburgerstrasse 49, 79104 Freiburg, Germany; Renal Division, University Hospital Freiburg, Hugstetter Strasse 55, 79106 Freiburg, Germany; Center for Biological Signaling Studies (BIOSS), University of Freiburg, 79104 Freiburg, Germany; Paris Descartes University-Sorbonne Paris Cité, Imagine Institute, 24 Boulevard du Montparnasse, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.05.035DOI Listing
July 2014

The role of proton transporters in epithelial Wnt signaling pathways.

Pediatr Nephrol 2011 Sep 5;26(9):1523-7. Epub 2011 Mar 5.

Center for Systems Biology (ZBSA), University of Freiburg, Habsburgerstrasse 49, 79104, Freiburg, Germany.

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http://dx.doi.org/10.1007/s00467-011-1823-zDOI Listing
September 2011

Regulation of Frizzled-dependent planar polarity signaling by a V-ATPase subunit.

Curr Biol 2010 Jul 24;20(14):1269-76. Epub 2010 Jun 24.

Center for Systems Biology (ZBSA), University of Freiburg, Habsburgerstrasse 49, 79104 Freiburg, Germany.

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http://dx.doi.org/10.1016/j.cub.2010.05.057DOI Listing
July 2010

Stimulation of eryptosis by anti-A IgG antibodies.

Cell Physiol Biochem 2007 ;20(5):591-600

Department of Physiology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1159/000107542DOI Listing
September 2007

Stimulation of eryptosis by anti-A IgG antibodies.

Cell Physiol Biochem 2007 ;20(5):591-600

Department of Physiology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1159/000107542DOI Listing
September 2007

Stimulation of eryptosis by anti-A IgG antibodies.

Cell Physiol Biochem 2007 ;20(5):591-600

Department of Physiology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1159/000107542DOI Listing
September 2007

Stimulation of eryptosis by anti-A IgG antibodies.

Cell Physiol Biochem 2007 ;20(5):591-600

Department of Physiology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1159/000107542DOI Listing
September 2007

Stimulation of erythrocyte phosphatidylserine exposure by chlorpromazine.

Eur J Pharmacol 2006 Feb 10;532(1-2):11-7. Epub 2006 Feb 10.

Department of Physiology, University of Tübingen, Gmelinstrasse 5, D-72076 Tübingen, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S001429990501346
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http://dx.doi.org/10.1016/j.ejphar.2005.12.037DOI Listing
February 2006

Inhibition of erythrocyte "apoptosis" by catecholamines.

Naunyn Schmiedebergs Arch Pharmacol 2005 Nov 25;372(3):228-35. Epub 2005 Oct 25.

Department of Physiology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00210-005-0009-2DOI Listing
November 2005