Zobrazeno 1 - 10
of 117
pro vyhledávání: '"Richard P, Lifton"'
Autor:
Michel C. Nussenzweig, Caryn R Hale, Christian Gaebler, Paul D. Bieniasz, Dennis Schaefer-Babajew, Richard P. Lifton, Robert B. Darnell, Frauke Muecksch, Justin DaSilva, Erin G. Conlon, Ezgi Hacisuleyman, Theodora Hatziioannou, Yuhki Saito, Nathalie E. Blachère, Marissa Bergh
Publikováno v:
New England Journal of Medicine. 384:2212-2218
Emerging variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are of clinical concern. In a cohort of 417 persons who had received the second dose of BNT162b2 (Pfizer-BioNTech) or mRNA-1273 (Moderna) vaccine at least 2 weeks previ
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:
Fowzan S. Alkuraya, Verena Klämbt, Youying Mao, Ana C. Onuchic-Whitford, Weizhen Tan, Richard P. Lifton, Florian Buerger, Amar J. Majmundar, Heidi L. Rehm, Nina Mann, Ronen Schneider, Konstantin Deutsch, Hannah Hugo, Makiko Nakayama, Thomas M. Kitzler, Shrikant Mane, Hanan E. Shamseldin, Shirlee Shril, Eugen Widmeier, Friedhelm Hildebrandt
Publikováno v:
Kidney International Reports
Kidney International Reports, Vol 6, Iss 2, Pp 460-471 (2021)
Kidney International Reports, Vol 6, Iss 2, Pp 460-471 (2021)
Introduction Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of chronic kidney disease during childhood. Identification of 63 monogenic human genes has delineated 12 distinct pathogenic pathways. Methods Here, we generated
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:
Simon J. McGowan, Jenny Morton, Eduardo Calpena, David W. Johnson, Richard P. Lifton, Pascal Maire, Andrew O.M. Wilkie, Stephen R.F. Twigg, Michael L. Cunningham, Rodrigo Atique, Andrew T. Timberlake, Jonas A Gustafson, Steven A. Wall, Maud Wurmser, Débora Romeo Bertola, Maria Rita Passos-Bueno
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Journal of Medical Genetics
Universidade de São Paulo (USP)
instacron:USP
Journal of Medical Genetics
BackgroundPathogenic heterozygous SIX1 variants (predominantly missense) occur in branchio-otic syndrome (BOS), but an association with craniosynostosis has not been reported.MethodsWe investigated probands with craniosynostosis of unknown cause usin
Autor:
Shirlee Shril, Marvin Assent, Verena Klämbt, Amar J. Majmundar, Konstantin Deutsch, Nandini N. Margam, Youying Mao, Richard P. Lifton, Dieter O. Fürst, Jameela A. Kari, Tobias Hermle, Keerthika Lohanadan, Mustafa K. Khokha, Thomas M. Kitzler, Hanan M. Fathy, Muna Al-Saffar, Nina Mann, Wei Zhou, Florian Buerger, Ana C. Onuchic-Whitford, Peter F.M. van der Ven, Ronen Schneider, Friedhelm Hildebrandt, Shrikant Mane, Jonathan Marquez, Sherif El Desoky, Loai A. Eid, Hazem S. Awad, Makiko Nakayama, Roy Duncan
Publikováno v:
Kidney International Reports
Kidney International Reports, Vol 6, Iss 2, Pp 472-483 (2021)
Kidney International Reports, Vol 6, Iss 2, Pp 472-483 (2021)
Introduction Most of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in the glomerular podocyte, rendering SRNS a “podocytopathy.” Methods We performed whole-exome sequencing (WES)
Autor:
Jean-Laurent Casanova, Gaspard Kerner, Jacinta Bustamante, Matthieu Bouaziz, Laurent Abel, Benedetta Bigio, Richard P. Lifton, Andrew T. Timberlake, Aurélie Cobat
Publikováno v:
Proc Natl Acad Sci U S A
Whole-exome sequencing (WES) has facilitated the discovery of genetic lesions underlying monogenic disorders. Incomplete penetrance and variable expressivity suggest a contribution of additional genetic lesions to clinical manifestations and outcome.
Autor:
Avi Ma'ayan, Nahid Turan, Bradley L. Demarest, Brent W. Bisgrove, Richard P. Lifton, Zichen Wang, Christine E. Seidman, Alessandro Giardini, Alexander Lachmann, Wendy K. Chung, Richard B. Kim, George A. Porter, Amy E. Roberts, Bruce D. Gelb, Andrew D. Rouillard, Martin Tristani-Firouzi, Sunita S. Shankaran, Deepak Srivastava, Nicolas F. Fernandez, Jonathan J. Edwards, Jane W. Newburger, Martina Brueckner, Elizabeth Goldmuntz, Daniel Bernstein, John E. Deanfield, H. Joseph Yost
Publikováno v:
JACC: Basic to Translational Science
Visual Abstract
Highlights • Combining CHD phenotype–driven gene set enrichment and CRISPR knockdown screening in zebrafish is an effective approach to identifying novel CHD genes. • Mutations affecting genes coding for the WAVE2 protein c
Highlights • Combining CHD phenotype–driven gene set enrichment and CRISPR knockdown screening in zebrafish is an effective approach to identifying novel CHD genes. • Mutations affecting genes coding for the WAVE2 protein c
Autor:
Tilman Jobst-Schwan, Marcella Greco, Patricia M. Kane, Michelle A. Baum, Verena Klämbt, Shrikant Mane, Seema Hashmi, Seth L. Alper, Jutta Gellermann, Richard P. Lifton, Amar J. Majmundar, Florian Buerger, John F. Heneghan, Friedhelm Hildebrandt, Guido F. Laube, Shirlee Shril, Francesco Emma, Farkhanda Hafeez, Hanan M. Fathy, Rezan Topaloglu, Isabel Ottlewski, Martin Pohl, Danko Milosevic, Boris E. Shmukler, Maureen Tarsio
Publikováno v:
Kidney International. 97:567-579
Distal renal tubular acidosis is a rare renal tubular disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification. Mutations in three genes (ATP6V0A4, ATP6V1B1 and SLC4A1) constitute a monogenic causation in 58-70%
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