Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Richard P, Lifton"'
Autor:
Ana C. Onuchic-Whitford, Florian Buerger, Slim Mzoughi, Denny Schanze, Beate Ermisch-Omran, Andreas R. Janecke, Susanne J. Kühl, Sven Schumann, Amy Kolb, Anja Werberger, Svjetlana Lovric, Shasha Shi, Verena Klämbt, Neveen A. Soliman, Youying Mao, Tilman Jobst-Schwan, Alma Kuechler, Ronen Schneider, Dagmar Wieczorek, Weizhen Tan, Jan Kadlec, Nina Mann, Franziska Kause, Amar J. Majmundar, Shrikant Mane, Kristina Holton, Ernesto Guccione, Thomas M. Kitzler, Martin Zenker, Amelie T. van der Ven, Makiko Nakayama, Thomas Lennert, Jia Rao, Oliver Gross, Michael J. Schmeisser, Eva Mildenberger, Martin Skalej, Daniela A. Braun, Shirlee Shril, Ernestine Treimer, Richard P. Lifton, Friedhelm Hildebrandt, Michael Kühl
Publikováno v:
Journal of the American Society of Nephrology. 32:580-596
Background Galloway-Mowat syndrome (GAMOS) is characterized by neurodevelopmental defects and a progressive nephropathy, which typically manifests as steroid-resistant nephrotic syndrome. The prognosis of GAMOS is poor, and the majority of children p
Autor:
Verena Klämbt, Youying Mao, Vimla Aggarwal, Arang Kim, Friedhelm Hildebrandt, Mohamad A. Mikati, Vandana Shashi, Anne H. O’Donnell-Luria, Vaidehi Jobanputra, Jeremiah Martino, Vivette D. D'Agati, Minxian Wang, Marcus R. Benz, Shoji Yano, Janine Altmüller, Ali G. Gharavi, Florian Buerger, Enrico Fiaccadori, Richard P. Lifton, Bodo B. Beck, Amy Kolb, Mordi Muorah, David Goldstein, Nina Mann, Martin R. Pollak, Dina Ahram, Heidi Cope, Gian Marco Ghiggeri, Jillian S. Parboosingh, Asmaa S. AbuMaziad, Kamal Khan, Ana C. Onuchic-Whitford, Louise Bier, Emma Pierce-Hoffman, Jonathan E. Zuckerman, Shrikant Mane, Moin A. Saleem, Amar J. Majmundar, Heidi L. Rehm, Ora Yadin, Erin L. Heinzen, Gina Y. Jin, Christelle Moufawad El Achkar, Konstantin Deutsch, Julia Hoefele, Ania Koziell, Gianluca Caridi, Talha Gunduz, Agnieszka Bierzynska, Korbinian M. Riedhammer, Monica Bodria, Ronen Schneider, Julian A. Martinez-Agosto, Thomas M. Kitzler, Shirlee Shril, Ulrike John-Kroegel, Howard Trachtman, Adele Mitrotti, Eleanor G. Seaby, Amanda V. Tyndall, Isabella Pisani, Patricia L. Weng, Tze Y Lim, A. Micheil Innes, John Musgrove, Simone Sanna-Cherchi, Erica E. Davis
Publikováno v:
Am J Hum Genet
Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by recessive mutations, w
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
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
Autor:
Mai B Bader, Eleni Zamba-Papanicolaou, Erin Loring, Richard P. Lifton, Ala Arafat, Khalid Horany, Antonis Ververis, Carol Nelson-Williams, Yaqoub Al-Baho, Bushra Ali, Lefkos T. Middleton, Kyproula Christodoulou, Ahmad A. Al-Oqaily, Tyrone DeSpenza, Ammar Fayez Mubaidin, Pantelitsa Koutsou, Abdelkarim A. Al-Qudah, Abdurrahman Muhtaseb, Rana Dajani
Publikováno v:
Journal of Medical Genetics
BackgroundDistal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that
Autor:
Rufeng Dai, Shrikant Mane, Marcello Scala, Shirlee Shril, Alina C. Hilger, Dervla M. Connaughton, Franziska Kause, Heidi L. Rehm, Bernd Hoppe, Gianluca Piatelli, Stefanie Märzheuser, Makiko Nakayama, Caroline M. Kolvenbach, Richard P. Lifton, Vincenzo Nigro, Luca Schierbaum, Thomas M. Kitzler, Friedhelm Hildebrandt, Eberhard Schmiedeke, Gabriel C. Dworschak, Sophia Schneider, Heiko Reutter, Annalaura Torella, Valeria Capra, Amelie T. van der Ven, Ronen Schneider, Nina Mann, Andrea Accogli
Publikováno v:
Am J Med Genet A
INTRODUCTION: The acronym VATER/VACTERL refers to the rare non-random association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without es
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72bd4d2d86317627cfbf9ccf0ecc14ba
https://europepmc.org/articles/PMC8595524/
https://europepmc.org/articles/PMC8595524/
Autor:
Subhash K. Das, Dhanpat Jain, Carol Nelson-Williams, Richard P. Lifton, Gülseren Evirgen Şahin, Aysel Ünlüsoy Aksu, Silvia Vilarinho, Ferda Özbay Hoşnut
Publikováno v:
Hepatology Communications. 3:471-477
Undiagnosed liver disease remains an unmet medical need in pediatric hepatology, including children with high gamma-glutamyltransferase (GGT) cholestasis. Here, we report whole-exome sequencing of germline DNA from 2 unrelated children, both offsprin
Autor:
Richard P. Lifton, Yoshifuru Tamura, Shigeru Shibata, Qin Wang, Yoshihide Fujigaki, Kenichi Ishizawa, Jinping Li, Osamu Yamazaki, Shunya Uchida
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Calcineurin inhibitors (CNIs) are potent immunosuppressants; hypertension and hyperkalemia are common adverse effects. Activation of the renal Na-Cl cotransporter (NCC) is implicated in this toxicity; however, the mechanism is unknown. C
Autor:
Amar J. Majmundar, Daniela A. Braun, Verena Klämbt, Youying Mao, Ali Amar, Ihsan Ullah, Florian Buerger, Caroline M. Kolvenbach, Neveen A. Soliman, Ker Sin Tan, Ana C. Onuchic-Whitford, Rufeng Dai, Friedhelm Hildebrandt, Shirlee Shril, Julie D. Forman-Kay, Chin Heng Chen, Marwa M. Nabhan, Andreas Heilos, Daanya Salmanullah, Richard P. Lifton, Kaitlyn Eddy, Konstantin Deutsch, Michelle Scurr, Renate Kain, Isabel Ottlewski, Melissa H. Little, Ronen Schneider, Thomas A. Forbes, Nina Mann, Makiko Nakayama, Eugen Widmeier, Seymour Rosen, Sara E. Howden, Amy Kolb, Thomas M. Kitzler, Shrikant Mane, Ethan W. Lai, Mickael Krzeminski, Christoph Aufricht
Publikováno v:
Science Advances. 7
Nephrotic syndrome (NS) is a leading cause of chronic kidney disease. We found recessive NOS1AP variants in two families with early-onset NS by exome sequencing. Overexpression of wild-type (WT) NOS1AP, but not cDNA constructs bearing patient variant
Autor:
August A. Allocco, Sheng Chih Jin, Phan Q. Duy, Charuta G. Furey, Xue Zeng, Weilai Dong, Carol Nelson-Williams, Jason K. Karimy, Tyrone DeSpenza, Le T. Hao, Benjamin Reeves, Shozeb Haider, Murat Gunel, Richard P. Lifton, Kristopher T. Kahle
Publikováno v:
Frontiers in Cellular Neuroscience
Frontiers in Cellular Neuroscience, Vol 13 (2019)
Frontiers in Cellular Neuroscience, Vol 13 (2019)
Background ATP1A3 encodes the α3 subunit of the Na+/K+ ATPase, a fundamental ion-transporting enzyme. Primarily expressed in neurons, ATP1A3 is mutated in several autosomal dominant neurological diseases. To our knowledge, damaging recessive genotyp
Autor:
Cecelia W. Lo, Stephen Sanders, Sarah U. Morton, Irina R. Tikhonoa, Samir Zaidi, Elizabeth Goldmuntz, Hongjian Qi, Richard B. Kim, Jonathan R. Kaltman, Jonathan G. Seidman, Xue Zeng, Jason Homsy, George A. Porter, W. Scott Watkins, Deepak Srivastava, Weni Chang, Martin Tristani-Firouzi, Seema Mital, James R. Knight, Qiongshi Lu, Steven R. DePalma, John E. Deanfield, Christopher Castaldi, J. William Gaynor, Yufeng Shen, Bruce D. Gelb, Mark W. Russell, Richard P. Lifton, Alessandro Giardini, Kaya Bilguvar, Wendy K. Chung, Jane W. Newburger, H. Joseph Yost, Sheng Chih Jin, Mark Yandell, Martina Brueckner, Shrikant Mane, Robert D. Bjornson, Wei Chien Hung, Amy E. Roberts, Junhui Zhang, Christine E. Seidman, Michael C. Sierant, Hongyu Zhao, Shozeb Haider
Publikováno v:
Nature genetics
Nature genetics, vol 49, iss 11
Nature genetics, vol 49, iss 11
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, implicated rare inherited mutations in 1.8%, including a rec