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:
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:
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:
Jonathan L. Levinsohn, Leonard M. Milstone, Keith A. Choate, Nareh M. Burgren, Shayan Cheraghlou, Rong Hua Hu, Corey Saraceni, Jing Zhou, Ivy Ren, Carol Nelson-Williams, Richard P. Lifton, Margarita Larralde, Ryan Fan, Erin Loring, Lionel Bercovitch, Lynn M. Boyden, Amy S. Paller, Theodore Zaki, Qisi Sun, Brittany G. Craiglow, Charlie Tian
Publikováno v:
JAMA Dermatol
IMPORTANCE: Ichthyoses are clinically and genetically heterogeneous disorders characterized by scaly skin. Despite decades of investigation identifying pathogenic variants in more than 50 genes, clear genotype-phenotype associations have been difficu
Autor:
Nihan Erden, Carol J. Soroka, James L. Boyer, Youssef Khalil, Iqra Mushtaq, Silvia Vilarinho, Emily Gao, Dhanpat Jain, Pramod K. Mistry, Richard P. Lifton, Huma Arshad Cheema, Peter E. Clayton, Carol Nelson-Williams, Nadia K. Waheed
Publikováno v:
Hepatology
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:
Toshimitsu Kawate, Amar J. Majmundar, Dervla M. Connaughton, Amelie T. van der Ven, Rufeng Dai, Jameela A. Kari, Caroline M. Kolvenbach, Madeleine J. Tooley, Mohamed A. Shalaby, Ryan E. Hibbs, Erik Henze, Shirlee Shril, Jing Chen, Sherif El Desoky, Nina Mann, Stuart B. Bauer, Lucy Bownass, Hadas Ityel, Richard P. Lifton, Makiko Nakayama, Velibor Tasic, Shrikant Mane, Chen Han W. Wu, Jonathan M. Beckel, Heiko Reutter, Verena Klämbt, Sian Ellard, Weiqun Yu, Franziska Kause, Friedhelm Hildebrandt, Elisa De Franco, Anant Gharpure, Richard S. Lee
Publikováno v:
Am J Hum Genet
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life, and in utero obstruction to urine flow is a frequent cause of secondary upper urinary tract malformat
Autor:
Joseph M. Zabramski, Daniel Duran, Alejandro Berenstein, Michael L. DiLuna, Jonathan Gaillard, Andrew F. Ducruet, Seth L. Alper, Julio D Montejo, Shreyas Panchagnula, Carol Nelson-Williams, Sheng Chih Jin, Kaya Bilguvar, Adam J. Kundishora, Charles C. Matouk, Beverly Aagaard-Kienitz, August A Allocco, Mark W. Youngblood, Shrikant Mane, Jennifer Klein, Charuta G. Furey, Mohammad Mansuri, Murat Gunel, Richard P. Lifton, Jungmin Choi, Xue Zeng, Alberto Vera, Georges Rodesch, Sierra B Conine, Michelle Sorscher, Jason K. Karimy, Edward R. Smith, Kristopher T. Kahle, Andrew T. Timberlake, Darren B. Orbach, Qiongshi Lu
Publikováno v:
Neurosurgery. 66:310-341
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/