Zobrazeno 41 - 50
of 489
pro vyhledávání: '"Richard P, Lifton"'
Autor:
Tingting Jiang, Weiwei Shi, Vikram B Wali, Lőrinc S Pongor, Charles Li, Rosanna Lau, Balázs Győrffy, Richard P Lifton, William F Symmans, Lajos Pusztai, Christos Hatzis
Publikováno v:
PLoS Medicine, Vol 13, Iss 12, p e1002193 (2016)
BackgroundTriple negative breast cancer (TNBC) is a highly heterogeneous and aggressive disease, and although no effective targeted therapies are available to date, about one-third of patients with TNBC achieve pathologic complete response (pCR) from
Externí odkaz:
https://doaj.org/article/10e48ed9f47844dbabcb17db57e75d1b
Autor:
Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton
Publikováno v:
eLife, Vol 5 (2016)
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations contributing to common non-syndromic midline (sagittal and metopi
Externí odkaz:
https://doaj.org/article/1c3b4f1a817344c685c57052b2f73101
Abstract QS43: Blepharophimosis Ptosis Epicanthus Inversus Syndrome Caused by a ZC3H13 Gene Mutation
Autor:
Daniel M. Balkin, MD, PhD, Carol Nelson-Williams, BS, MS, Brandon J. Sumpio, BA, Daryl A. Scott, MD, PhD, Pierre Le Pabic, PhD, Thomas F. Schilling, PhD, Richard P. Lifton, MD, PhD, Deepak Narayan, MD
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 6, Iss 4S, Pp 142-143 (2018)
Externí odkaz:
https://doaj.org/article/8c39f2718d30424c834d4d5e59b69810
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:
Stephanie M. Robert, Benjamin C. Reeves, Emre Kiziltug, Phan Q. Duy, Jason K. Karimy, M. Shahid Mansuri, Arnaud Marlier, Garrett Allington, Ana B.W. Greenberg, Tyrone DeSpenza, Amrita K. Singh, Xue Zeng, Kedous Y. Mekbib, Adam J. Kundishora, Carol Nelson-Williams, Le Thi Hao, Jinwei Zhang, TuKiet T. Lam, Rashaun Wilson, William E. Butler, Michael L. Diluna, Philip Feinberg, Dorothy P. Schafer, Kiavash Movahedi, Allen Tannenbaum, Sunil Koundal, Xinan Chen, Helene Benveniste, David D. Limbrick, Steven J. Schiff, Bob S. Carter, Murat Gunel, J. Marc Simard, Richard P. Lifton, Seth L. Alper, Eric Delpire, Kristopher T. Kahle
Publikováno v:
Cell. 186:764-785.e21
The choroid plexus (ChP) is the blood-cerebrospinal fluid (CSF) barrier and the primary source of CSF. Acquired hydrocephalus, caused by brain infection or hemorrhage, lacks drug treatments due to obscure pathobiology. Our integrated, multi-omic inve
Autor:
Richard P. Lifton
Publikováno v:
Journal of Hypertension. 41:e5
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)