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by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | GENETICS & HEREDITY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Life Sciences
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F. P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaelle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I. Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Yung Gee, Heon and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sandra D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'Ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T. F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and Van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1529 - 1538
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2019, Volume 381, Issue 1, pp. 36 - 46
Journal Article
Nephron, ISSN 1660-8151, 07/2015, Volume 130, Issue 3, pp. 159 - 168
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I. Chiara and Sanchez-Ferras, Oraly and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian and Daga, Ankana and LeBerre, Tamara Basta and Matejas, Verena and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okasha and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wolf, Matthias T.F and Wong, Sik-Nin and Poduri, Annapurna and Truglio, Gessica and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Calleweart, Bert and van Tilbeurgh, Herman and Zenker, Martin and Antignac, Corinne and Hildebrandt, Friedhelm
Nature genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1529 - 1538
Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome... 
Journal Article
01/2019, FOURTH EDITION, ISBN 9780323478717
Book Chapter
2019, ISBN 0323478719
Book Chapter
Kidney International Reports, ISSN 2468-0249, 11/2019, Volume 4, Issue 11, pp. 1608 - 1616
The goal of this study was to assess the occurrence of steroid-associated adverse events (SAAE) in patients with primary proteinuric kidney disease. The Kidney... 
side effects | steroids | adverse events | glomerular disease | electronic medical record data | nephrotic syndrome | GLUCOCORTICOIDS | ALBUMINURIA | RISK | CARE | CHILDREN | OCULAR COMPLICATIONS | CORTICOSTEROID-THERAPY | UROLOGY & NEPHROLOGY | FRACTURES
Journal Article
Kidney International Reports, ISSN 2468-0249, 03/2018, Volume 3, Issue 2, pp. 439 - 446
NephCure Accelerating Cures Institute (NACI) is a collaborative organization sponsored by NephCure Kidney International and the University of Michigan. The... 
patient advisory | patient-reported outcomes | clinical trials | glomerular disease | electronic health record | nephrotic syndrome
Journal Article
by Agarwal, Rajiv and Alfaadhel, Talal and Andersen, Martin J and Asplin, John Robert and Avasare, Rupali S and Bakris, George L and Bansal, Amar D and Baxi, Pravir V and Berkoben, Michael and Bieber, Scott D and Buchkremer, Florian and Burgner, Anna Marie and Byrd, James Brian and Cattran, Daniel and Choudhury, Devasmita and Granado, Rolando Claure-Del and Denker, Bradley M and Derebail, Vimal K and Desnick, Robert J and Lullo, Luca di and Duronville, John V and Eknoyan, Garabed and Kateb, Mina El and Elliott, William J and Ennis, Jennifer L and Fervenza, Fernando C and Figlin, Robert A and Galvin, Zita and Garimella, Pranav S and Gipson, Patrick E and Gipson, Debbie S and Goldfarb, David S and Greenberg, Arthur and Haller, Hermann and Hiremath, Swapnil and Horwitz, Edward J and Hou, Susan and Inker, Lesley A and Irazabal, Maria V and Irish, Ashley Bruce and Jhaveri, Kenar D and Jefferson, Jonathan Ashley and Kalantar-Zadeh, Kamyar and Kamil, Elaine S and Kenny, Jon-Emile S and Khoury, Charbel C and Kohli, Jatinder and Kovalik, Eugene C and Kovesdy, Csaba P and Kupin, Warren and Lehrich, Ruediger W and Lerma, Edgar V and Levi, Moshe and Lockridge, Joseph L and Lopez, Jennifer and Macedo, Etienne and Mehrotra, Rajnish and Mehta, Ravindra L and Nachman, Patrick H and Nadai, Carol and Negrea, Lavinia Aura and Nicolle, Lindsay E and Norris, Keith C and Novakovic, Alexander and Olyaei, Ali J and Pal, Sumanta Kumar and Palevsky, Paul M and Patel, Ami M and Patney, Vikram and Perazella, Mark A and Pham, Phuong-Chi T and Pham, Phuong-Thu T and Pryor, Joseph B and S. Ram, C. Venkata and Rahman, MD, Mahboob and Reisinger, Nathaniel and Rocco, Michael V and Ronco, Claudio and Rosenberg, Mark E and Rosner, Mitchell H and Rudnick, Michael R and Sabath, Ernesto and Sarnak, Mark J and Schell, Jane O and Seay, N. Winn and Sedor, John R and Sethi, Akash Nair and Shah, Anuja and Shah, Lori and Sherer, Benjamin A and Singh, Harpreet and Sinniah, Rajalingam and Sloand, James A and Sparks, Matthew A and Sprague, Stuart M and Steigerwalt, Susan Patricia and Sternlicht, Hillel and Stoller, Marshall L and Thomas, Beje and Toka, Hakan R and ...
2019, ISBN 0323478719
Book Chapter
01/2012, Third Edition, ISBN 9781416033622
Book Chapter
ISBN 9781416033622
Book Chapter
by Agarwal, Rajiv and Andersen, Martin J and Asplin, John R and Bakris, George L and Batlle, Daniel and Berl, Tomas and Bieber, Scott D and Cattran, Daniel C and Choudhury, Devasmita and Granado, Rolando Claure-Del and Croker, Byron P and Denker, Bradley M and Derebail, Vimal K and Desnick, Robert J and Drechsler, Christiane and Eirin, Alfonso and Eknoyan, Garabed and Kossi, Mohsen El and Nahas, Meguid El and Elliott, William J and Ellison, David H and Erdbruegger, Uta and Esteve, Angela Alonso and Fervenza, Fernando C and Figlin, Robert A and Fraer, Mony and Friedman, Eli A and Gipson, Debbie S and Gipson, Patrick E and Goldfarb, Stanley and Gonin, Joyce M and Griffiths, Ryan S and Halperin, Mitchell L and Hogan, Marie C and Horwitz, Edward J and Hou, Susan and Irish, Ashley B and Jefferson, J. Ashley and Kalantar-Zadeh, Kamyar and Kamel, Kamel S and Kamil, Elaine S and Kawar, B.S and Kirmse, Brian and Kovesdy, Csaba P and Kupin, Warren and Lattanzio, Michael R and Lerma, Edgar V and Levi, Moshe and Lewis, Edmund J and Linas, Stuart L and Macedo, Etienne and Maddirala, Supriya and Martins, David and Mehrotra, Rajnish and Mehta, Ravindra L and Mira, Maria Valentina Irazabal and Modi, Snesha and Moore, Rebecca and Nachman, Patrick H and Negrea, Lavinia A and Nicolle, Lindsay E and Noris, Marina and Norris, Keith C and Oliveras, Anna and Olyaei, Ali J and Pal, Sumanta Kumar and Palevsky, Paul M and Palmer, Biff F and Patel, Ami M and Perazella, Mark A and Prichard, Sarah and Rahman, Mahboob and Ram, C. Venkata S and Rao, Madhav V and Rao, Vijaykumar M and Remuzzi, Guiseppe and Rocco, Michael V and Ronco, Claudio and Rosen, Ally and Rosner, Mitchell H and Rudnick, Michael R and Rudolph, Earl H and Rueda, Jose F and Sabath, Ernesto and Sedor, John R and Shah, Anuja Pradip and Simpson, William L and Sinniah, Rajalingam and Sloand, James A and Sorensen, Mathew D and Sprague, Stuart M and Stevens, Lesley A and Stokes, John B and Stoller, Marshall L and Szczech, Lynda Anne M and Thomas, Jeffrey and Tisher, C. Craig and Torres, Vicente and Trachtman, Howard and Tsien, Cynthia and ...
ISBN 9781416033622
Book Chapter