Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Richard P, Lifton"'
Autor:
Amelie T van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M Connaughton, Nina Mann, Eugen Widmeier, Mary Taglienti, Johanna Magdalena Schmidt, Makiko Nakayama, Prabha Senguttuvan, Selvin Kumar, Velibor Tasic, Elijah O Kehinde, Shrikant M Mane, Richard P Lifton, Neveen Soliman, Weining Lu, Stuart B Bauer, Matthias Hammerschmidt, Raimund Wagener, Friedhelm Hildebrandt
Publikováno v:
PLoS ONE, Vol 13, Iss 1, p e0191224 (2018)
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40-50%) of chronic kidney disease (CKD) in children. About 40 monogenic causes of CAKUT have so far been discovered. To date less than 20% of CAKUT cases can be e
Externí odkaz:
https://doaj.org/article/2bc11b7231c74bacbf98e8696e293ebc
Autor:
Thanh T Hoang, Elizabeth Goldmuntz, Amy E Roberts, Wendy K Chung, Jennie K Kline, John E Deanfield, Alessandro Giardini, Adolfo Aleman, Bruce D Gelb, Meghan Mac Neal, George A Porter, Richard Kim, Martina Brueckner, Richard P Lifton, Sharon Edman, Stacy Woyciechowski, Laura E Mitchell, A J Agopian
Publikováno v:
PLoS ONE, Vol 13, Iss 1, p e0191319 (2018)
The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. This article describes the PCGC cohort, overall an
Externí odkaz:
https://doaj.org/article/5c89952bd9834bd483cf3a56b9537a9f
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:
James R Priest, Kazutoyo Osoegawa, Nebil Mohammed, Vivek Nanda, Ramendra Kundu, Kathleen Schultz, Edward J Lammer, Santhosh Girirajan, Todd Scheetz, Daryl Waggott, Francois Haddad, Sushma Reddy, Daniel Bernstein, Trudy Burns, Jeffrey D Steimle, Xinan H Yang, Ivan P Moskowitz, Matthew Hurles, Richard P Lifton, Debbie Nickerson, Michael Bamshad, Evan E Eichler, Seema Mital, Val Sheffield, Thomas Quertermous, Bruce D Gelb, Michael Portman, Euan A Ashley
Publikováno v:
PLoS Genetics, Vol 12, Iss 4, p e1005963 (2016)
Congenital heart disease (CHD) has a complex genetic etiology, and recent studies suggest that high penetrance de novo mutations may account for only a small fraction of disease. In a multi-institutional cohort surveyed by exome sequencing, combining
Externí odkaz:
https://doaj.org/article/897b1c0c4e4048629f49fa89a99239df
Autor:
Tobias Åkerström, Joakim Crona, Alberto Delgado Verdugo, Lee F Starker, Kenko Cupisti, Holger S Willenberg, Wolfram T Knoefel, Wolfgang Saeger, Alfred Feller, Julian Ip, Patsy Soon, Martin Anlauf, Pier F Alesina, Kurt W Schmid, Myriam Decaussin, Pierre Levillain, Bo Wängberg, Jean-Louis Peix, Bruce Robinson, Jan Zedenius, Martin Bäckdahl, Stefano Caramuta, K Alexander Iwen, Johan Botling, Peter Stålberg, Jean-Louis Kraimps, Henning Dralle, Per Hellman, Stan Sidhu, Gunnar Westin, Hendrik Lehnert, Martin K Walz, Göran Åkerström, Tobias Carling, Murim Choi, Richard P Lifton, Peyman Björklund
Publikováno v:
PLoS ONE, Vol 7, Iss 7, p e41926 (2012)
Aldosterone producing lesions are a common cause of hypertension, but genetic alterations for tumorigenesis have been unclear. Recently, either of two recurrent somatic missense mutations (G151R or L168R) was found in the potassium channel KCNJ5 gene
Externí odkaz:
https://doaj.org/article/8e3599de100c4ef9802dce0a7af360fa
Autor:
Krzysztof Kiryluk, Yifu Li, Simone Sanna-Cherchi, Mersedeh Rohanizadegan, Hitoshi Suzuki, Frank Eitner, Holly J Snyder, Murim Choi, Ping Hou, Francesco Scolari, Claudia Izzi, Maddalena Gigante, Loreto Gesualdo, Silvana Savoldi, Antonio Amoroso, Daniele Cusi, Pasquale Zamboli, Bruce A Julian, Jan Novak, Robert J Wyatt, Krzysztof Mucha, Markus Perola, Kati Kristiansson, Alexander Viktorin, Patrik K Magnusson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Kari Stefansson, Anne Boland, Marie Metzger, Lise Thibaudin, Christoph Wanner, Kitty J Jager, Shin Goto, Dita Maixnerova, Hussein H Karnib, Judit Nagy, Ulf Panzer, Jingyuan Xie, Nan Chen, Vladimir Tesar, Ichiei Narita, Francois Berthoux, Jürgen Floege, Benedicte Stengel, Hong Zhang, Richard P Lifton, Ali G Gharavi
Publikováno v:
PLoS Genetics, Vol 8, Iss 6, p e1002765 (2012)
IgA nephropathy (IgAN), major cause of kidney failure worldwide, is common in Asians, moderately prevalent in Europeans, and rare in Africans. It is not known if these differences represent variation in genes, environment, or ascertainment. In a rece
Externí odkaz:
https://doaj.org/article/6594c5a6adc741ca99db42edc4cdc8a5
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
Autor:
Jennifer K Lowe, Julian B Maller, Itsik Pe'er, Benjamin M Neale, Jacqueline Salit, Eimear E Kenny, Jessica L Shea, Ralph Burkhardt, J Gustav Smith, Weizhen Ji, Martha Noel, Jia Nee Foo, Maude L Blundell, Vita Skilling, Laura Garcia, Marcia L Sullivan, Heather E Lee, Anna Labek, Hope Ferdowsian, Steven B Auerbach, Richard P Lifton, Christopher Newton-Cheh, Jan L Breslow, Markus Stoffel, Mark J Daly, David M Altshuler, Jeffrey M Friedman
Publikováno v:
PLoS Genetics, Vol 5, Iss 2, p e1000365 (2009)
It has been argued that the limited genetic diversity and reduced allelic heterogeneity observed in isolated founder populations facilitates discovery of loci contributing to both Mendelian and complex disease. A strong founder effect, severe isolati
Externí odkaz:
https://doaj.org/article/1715bd2f99ae4d02898f3c4a0253ba34
Autor:
Daniel Bernstein, Seema Mital, Kazutoyo Osoegawa, Daryl Waggott, Ivan P. Moskowitz, Euan A. Ashley, Deborah A. Nickerson, Santhosh Girirajan, Todd E. Scheetz, Richard P. Lifton, Jeffrey D. Steimle, Sushma Reddy, Michael A. Portman, Evan E. Eichler, Val C. Sheffield, Edward J. Lammer, Michael J. Bamshad, Kathleen Schultz, Nebil Mohammed, Ramendra K. Kundu, Vivek Nanda, Francois Haddad, James R. Priest, Thomas Quertermous, Matthew E. Hurles, Xinan Yang, Trudy L. Burns, Bruce D. Gelb
Publikováno v:
PLoS Genetics, Vol 12, Iss 4, p e1005963 (2016)
PLoS Genetics
PLoS Genetics
Congenital heart disease (CHD) has a complex genetic etiology, and recent studies suggest that high penetrance de novo mutations may account for only a small fraction of disease. In a multi-institutional cohort surveyed by exome sequencing, combining
Autor:
Adolfo Aleman, Bruce D. Gelb, Jennie Kline, Richard P. Lifton, John E. Deanfield, Alessandro Giardini, Thanh T. Hoang, Wendy K. Chung, Elizabeth Goldmuntz, Martina Brueckner, Stacy Woyciechowski, Sharon Edman, George A. Porter, Richard B. Kim, Meghan K Mac Neal, A. J. Agopian, Laura E. Mitchell, Amy E. Roberts
Publikováno v:
PLoS ONE, Vol 13, Iss 1, p e0191319 (2018)
PLoS ONE
PLoS ONE
The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. This article describes the PCGC cohort, overall an
Autor:
Rosanna Lau, Balázs Győrffy, Lőrinc S. Pongor, Charles Li, Christos Hatzis, Vikram B. Wali, Richard P. Lifton, Tingting Jiang, Weiwei Shi, William Fraser Symmans, Lajos Pusztai
Publikováno v:
PLoS Medicine
PLoS Medicine, Vol 13, Iss 12, p e1002193 (2016)
PLoS Medicine, Vol 13, Iss 12, p e1002193 (2016)
Background Triple 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) fro