Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

Autor: Chen-Han Wilfred Wu, Tze Y. Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Luca Schierbaum, Sophia Schneider, Nina Mann, Dervla M. Connaughton, Makiko Nakayama, Amelie T. van der Ven, Rufeng Dai, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Natasa Stajic, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan M. Fathy, Danko Milosevic, Daniel Turudic, Muna Al Saffar, Hazem S. Awad, Loai A. Eid, Aravind Ramanathan, Prabha Senguttuvan, Shrikant M. Mane, Richard S. Lee, Stuart B. Bauer, Weining Lu, Alina C. Hilger, Velibor Tasic, Shirlee Shril, Simone Sanna-Cherchi, Friedhelm Hildebrandt

Publikováno v: European Urology Open Science, Vol 44, Iss , Pp 106-112 (2022)

Background: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease among children and adults younger than 30 yr. In our previous study, whole-exome sequencing (WES) identified a known monogen

Externí odkaz: https://doaj.org/article/3efb0bd1ab7841249ffc6b6938766552

OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis

Autor: Amar J. Majmundar, Eugen Widmeier, John F. Heneghan, Ankana Daga, Chen-Han Wilfred Wu, Florian Buerger, Hannah Hugo, Ihsan Ullah, Ali Amar, Isabel Ottlewski, Daniela A. Braun, Tilman Jobst-Schwan, Jennifer A. Lawson, Muhammad Yasir Zahoor, Nancy M. Rodig, Velibor Tasic, Caleb P. Nelson, Shagufta Khaliq, Ria Schönauer, Jan Halbritter, John A. Sayer, Hanan M. Fathy, Michelle A. Baum, Shirlee Shril, Shrikant Mane, Seth L. Alper, Friedhelm Hildebrandt

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics.

Nephrolithiasis (NL) affects 1 in 11 individuals worldwide, leading to significant patient morbidity. NL is associated with nephrocalcinosis (NC), a risk factor for chronic kidney disease. Causative genetic variants are detected in 11-28% of NL and/o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35263496f6d789cf51cbc5c2245309e7
https://pubmed.ncbi.nlm.nih.gov/36571463

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

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

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
American journal of human genetics, 107(4), 727-742. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107, 4, pp. 727-742
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 727-742

International audience; Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first three decades of life. Despite the disco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0bcf100f3cbcb4de0590d4409d43436
http://www.scopus.com/inward/record.url?scp=85091260805&partnerID=8YFLogxK

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

Autor: Luca Schierbaum, Amar J. Majmundar, Friedhelm Hildebrandt, Hanan M. Fathy, Avram Z. Traum, Bixia Zheng, Ankana Daga, Sophia Schneider, Florian Buerger, Konstantin Deutsch, Mohammed Shalaby, Steve Seltzsam, Rufeng Dai, Caroline M. Kolvenbach, Jameela A. Kari, Daanya Salmanullah, Michelle A. Baum, Ronen Schneider, Verena Klämbt, Youying Mao, Nancy Rodig, Kirollos Yousef, Deborah R. Stein, Loai A. Eid, Michael A. J. Ferguson, Neveen A. Soliman, Isabel Ottlewski, Franziska Kause, Makiko Nakayama, Sherif El Desoky, Ethan W. Lai, Nina Mann, Hazem S. Awad, Stuart B. Bauer, Michael J. Somers, Dalia Pantel, Velibor Tasic, Ana C. Onuchic-Whitford, Shrikant Mane, Chunyan Wang, Dervla M. Connaughton, Chen-Han Wilfred Wu, Ghaleb Daouk, Shirlee Shril, Camille Nicolas-Frank

Publikováno v: Genet Med

Purpose Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the leading cause of chronic kidney disease in children. In total, 174 monogenic causes of isolated or syndromic CAKUT are known. However, syndromic features may be over

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::319a0f68e6f1b84424d6c6cda5e139eb
https://pubmed.ncbi.nlm.nih.gov/34906515

Recessive

Autor: Amar J, Majmundar, Florian, Buerger, Thomas A, Forbes, Verena, Klämbt, Ronen, Schneider, Konstantin, Deutsch, Thomas M, Kitzler, Sara E, Howden, Michelle, Scurr, Ker Sin, Tan, Mickaël, Krzeminski, Eugen, Widmeier, Daniela A, Braun, Ethan, Lai, Ihsan, Ullah, Ali, Amar, Amy, Kolb, Kaitlyn, Eddy, Chin Heng, Chen, Daanya, Salmanullah, Rufeng, Dai, Makiko, Nakayama, Isabel, Ottlewski, Caroline M, Kolvenbach, Ana C, Onuchic-Whitford, Youying, Mao, Nina, Mann, Marwa M, Nabhan, Seymour, Rosen, Julie D, Forman-Kay, Neveen A, Soliman, Andreas, Heilos, Renate, Kain, Christoph, Aufricht, Shrikant, Mane, Richard P, Lifton, Shirlee, Shril, Melissa H, Little, Friedhelm, Hildebrandt

Publikováno v: Science advances. 7(1)

Nephrotic syndrome (NS) is a leading cause of chronic kidney disease. We found recessive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3b63036377726b088d95216350a26715
https://pubmed.ncbi.nlm.nih.gov/33523862