PLCE1 regulates the migration, proliferation, and differentiation of podocytes

by Seyoung Yu, Won-Il Choi, Yo Jun Choi, Hye-Youn Kim, Friedhelm Hildebrandt, Heon Yung Gee
Published 2020-04-01

A novel TRPC6 mutation that causes childhood FSGS.

by Saskia F Heeringa, Clemens C Möller, Jianyang Du, Lixia Yue, Bernward Hinkes, Gil Chernin, Christopher N Vlangos, Peter F Hoyer, Jochen Reiser, Friedhelm Hildebrandt
Published 2009-11-01

Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis

by Sumeda Nandadasa, Caroline M. Kraft, Lauren W. Wang, Anna O’Donnell, Rushabh Patel, Heon Yung Gee, Kay Grobe, Timothy C. Cox, Friedhelm Hildebrandt, Suneel S. Apte
Published 2019-02-01

Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: A single center experience

by Neveen A Soliman, Friedhelm Hildebrandt, Edgar A Otto, Marwa M Nabhan, Susan J Allen, Ahmed M Badr, Maha Sheba, Sawsan Fadda, Ghada Gawdat, Hassan El-Kiky
Published 2012-01-01

SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.

by Rannar Airik, Markus Schueler, Merlin Airik, Jang Cho, Kelsey A Ulanowicz, Jonathan D Porath, Toby W Hurd, Simon Bekker-Jensen, Jacob M Schrøder, Jens S Andersen, Friedhelm Hildebrandt
Published 2016-01-01

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

by Ben Pode-Shakked, Asaf Vivante, Ortal Barel, Shai Padeh, Dina Marek-Yagel, Alvit Veber, Shachar Abudi, Aviva Eliyahu, Irit Tirosh, Shiri Shpilman, Shirlee Shril, Friedhelm Hildebrandt, Mordechai Shohat, Yair Anikster
Published 2019-03-01

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.

by Kyeong Jee Cho, Shin Hye Noh, Soo Min Han, Won-Il Choi, Hye-Youn Kim, Seyoung Yu, Joon Suk Lee, John Hoon Rim, Min Goo Lee, Friedhelm Hildebrandt, Heon Yung Gee
Published 2018-03-01

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype

by Pei-Yi Lin, Min-Hua Tseng, Martin Zenker, Jia Rao, Friedhelm Hildebrandt, Shih-Hua Lin, Chun-Chen Lin, Jui-Hsing Chang, Chyong-Hsin Hsu, Ming-Dar Lee, Shuan-Pei Lin, Jeng-Daw Tsai
Published 2018-12-01

Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model.

by Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Ronen Schneider, Charlotte A Hoogstraten, Jeremy F P Ullmann, David Schapiro, Amar J Majmundar, Amy Kolb, Kaitlyn Eddy, Shirlee Shril, Daniela A Braun, Annapurna Poduri, Friedhelm Hildebrandt
Published 2018-01-01

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression

by Chaozhe Yang, Naoe Harafuji, Amber K. O’Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar, Daniela A. Braun, Monkol Lek, Kristen M. Laricchia, Hanan M. Fathy, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Lisa M. Guay-Woodford
Published 2021-09-01

Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition.

by Gisela G Slaats, Amiya K Ghosh, Lucas L Falke, Stéphanie Le Corre, Indra A Shaltiel, Glenn van de Hoek, Timothy D Klasson, Marijn F Stokman, Ive Logister, Marianne C Verhaar, Roel Goldschmeding, Tri Q Nguyen, Iain A Drummond, Friedhelm Hildebrandt, Rachel H Giles
Published 2014-10-01

Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

by Verena Klämbt, Youying Mao, Ronen Schneider, Florian Buerger, Hanan Shamseldin, Ana C. Onuchic-Whitford, Konstantin Deutsch, Thomas M. Kitzler, Makiko Nakayama, Amar J. Majmundar, Nina Mann, Hannah Hugo, Eugen Widmeier, Weizhen Tan, Heidi L. Rehm, Shrikant Mane, Richard P. Lifton, Fowzan S. Alkuraya, Shirlee Shril, Friedhelm Hildebrandt
Published 2021-02-01

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

by Irit Tirosh, Shiri Spielman, Ortal Barel, Reut Ram, Tali Stauber, Gideon Paret, Marina Rubinsthein, Itai M. Pessach, Maya Gerstein, Yair Anikster, Rachel Shukrun, Adi Dagan, Katerina Adler, Ben Pode-Shakked, Alexander Volkov, Marina Perelman, Shoshana Greenberger, Raz Somech, Einat Lahav, Amar J. Majmundar, Shai Padeh, Friedhelm Hildebrandt, Asaf Vivante
Published 2019-07-01

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.

by Wesley R Lewis, Erik B Malarkey, Douglas Tritschler, Raqual Bower, Raymond C Pasek, Jonathan D Porath, Susan E Birket, Sophie Saunier, Corinne Antignac, Michael R Knowles, Margaret W Leigh, Maimoona A Zariwala, Anil K Challa, Robert A Kesterson, Steven M Rowe, Iain A Drummond, John M Parant, Friedhelm Hildebrandt, Mary E Porter, Bradley K Yoder, Nicolas F Berbari
Published 2016-07-01

A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes

by Markus M. Rinschen, Markus Gödel, Florian Grahammer, Stefan Zschiedrich, Martin Helmstädter, Oliver Kretz, Mostafa Zarei, Daniela A. Braun, Sebastian Dittrich, Caroline Pahmeyer, Patricia Schroder, Carolin Teetzen, HeonYung Gee, Ghaleb Daouk, Martin Pohl, Elisa Kuhn, Bernhard Schermer, Victoria Küttner, Melanie Boerries, Hauke Busch, Mario Schiffer, Carsten Bergmann, Marcus Krüger, Friedhelm Hildebrandt, Joern Dengjel, Thomas Benzing, Tobias B. Huber
Published 2018-05-01

Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study

by María José Pérez-Sáez, María José Pérez-Sáez, Audrey Uffing, Juliette Leon, Naoka Murakami, Andreia Watanabe, Thiago J. Borges, Thiago J. Borges, Venkata S. Sabbisetti, Pamela Cureton, Victoria Kenyon, Leigh Keating, Karen Yee, Carla Aline Fernandes Satiro, Gloria Serena, Friedhelm Hildebrandt, Cristian V. Riella, Towia A. Libermann, Minxian Wang, Julio Pascual, Joseph V. Bonventre, Paolo Cravedil, Alessio Fasano, Leonardo V. Riella, Leonardo V. Riella, Leonardo V. Riella
Published 2021-06-01

A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.

by Amelie T van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M Connaughton, Nina Mann, Eugen Widmeier, Mary Taglienti, Johanna Magdalena Schmidt, Makiko Nakayama, Prabha Senguttuvan, Selvin Kumar, Velibor Tasic, Elijah O Kehinde, Shrikant M Mane, Richard P Lifton, Neveen Soliman, Weining Lu, Stuart B Bauer, Matthias Hammerschmidt, Raimund Wagener, Friedhelm Hildebrandt
Published 2018-01-01

A systematic approach to mapping recessive disease genes in individuals from outbred populations.

by Friedhelm Hildebrandt, Saskia F Heeringa, Franz Rüschendorf, Massimo Attanasio, Gudrun Nürnberg, Christian Becker, Dominik Seelow, Norbert Huebner, Gil Chernin, Christopher N Vlangos, Weibin Zhou, John F O'Toole, Bethan E Hoskins, Matthias T F Wolf, Bernward G Hinkes, Hassan Chaib, Shazia Ashraf, Dominik S Schoeb, Bugsu Ovunc, Susan J Allen, Virginia Vega-Warner, Eric Wise, Heather M Harville, Robert H Lyons, Joseph Washburn, James Macdonald, Peter Nürnberg, Edgar A Otto
Published 2009-01-01

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

by Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M. Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V. Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R. Bezzina, Brian P. Brooks, Abdelaziz Sefiani
Published 2019-03-01

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

by Youying Mao, Ronen Schneider, Peter F.M. van der Ven, Marvin Assent, Keerthika Lohanadan, Verena Klämbt, Florian Buerger, Thomas M. Kitzler, Konstantin Deutsch, Makiko Nakayama, Amar J. Majmundar, Nina Mann, Tobias Hermle, Ana C. Onuchic-Whitford, Wei Zhou, Nandini Nagarajan Margam, Roy Duncan, Jonathan Marquez, Mustafa Khokha, Hanan M. Fathy, Jameela A. Kari, Sherif El Desoky, Loai A. Eid, Hazem Subhi Awad, Muna Al-Saffar, Shrikant Mane, Richard P. Lifton, Dieter O. Fürst, Shirlee Shril, Friedhelm Hildebrandt
Published 2021-02-01