Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Richard P, Lifton"'
Autor:
Gabriel Stölting, Hoang An Dinh, Marina Volkert, Nicole Hellmig, Julia Schewe, Luise Hennicke, Eric Seidel, Herbert Oberacher, Junhui Zhang, Richard P. Lifton, Iris Urban, Melissa Long, Marion Rivalan, Timothy Nottoli, Ute I. Scholl
Publikováno v:
JCI Insight, Vol 8, Iss 20 (2023)
Somatic gain-of-function mutations in the L-type calcium channel CaV1.3 (CACNA1D gene) cause adrenal aldosterone-producing adenomas and micronodules. De novo germline mutations are found in a syndrome of primary aldosteronism, seizures, and neurologi
Externí odkaz:
https://doaj.org/article/0f1408c346d041e89ff1b8c5e1468840
Autor:
Larissa Kerecuk, Tilman Jobst-Schwan, Weizhen Tan, Khalid A. Alhasan, Mais Hashem, Shrikant Mane, Jonathan Marquez, Seema Hashmi, Shahid Mahmood Baig, Svjetlana Lovric, Heon Yung Gee, Kaitlyn Eddy, Johanna Magdalena Schmidt, Sara Gonçalves, Jillian K. Warejko, Ayaz Khan, Mustafa K. Khokha, Charlotte A. Hoogstraten, Hannah Hugo, Mercedes Ubetagoyena, Birgit Budde, M. Asif, Amar J. Majmundar, Jennifer A. Lawson, Qian Shen, Gema Ariceta, Angelika A. Noegel, Tobias Hermle, Eugen Widmeier, Susanne Motameny, Nilufar Mohebbi, Friedhelm Hildebrandt, Janine Altmüller, Richard P. Lifton, Kathrin Schrage, Thomas M. Kitzler, Muhammad Sajid Hussain, Amy Kolb, Hanan M. Fathy, Arwa Ishaq A. Khayyat, Ankana Daga, Robert B. Ettenger, David Schapiro, Daniela A. Braun, Erkin Serdaroglu, Shirlee Shril, Hong Xu, Syeda Seema Waseem, Fowzan S. Alkuraya, Jia Rao, Ronen Schneider, C. Patrick Lusk, Daniel P. Gale, Corinne Antignac, Peter Nürnberg, Wolfram Antonin, Shazia Ashraf, Abubakar Moawia
Publikováno v:
Journal of Clinical Investigation, 128, 10, pp. 4313-4328
Journal of Clinical Investigation, 128, 4313-4328
Journal of Clinical Investigation, 128, 4313-4328
Item does not contain fulltext Steroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease. Although more than 50 monogenic causes of SRNS have been described, a large proportion of SRNS remains unexplained. Re
Autor:
Ute I. Scholl, Richard P. Lifton, Laura Abriola, Mark Plummer, Chengbiao Zhang, Esther N. Reimer, Barbara I. Kazmierczak, Wen-Hui Wang, Denton Hoyer, Junhui Zhang, Jane S. Merkel
Publikováno v:
Journal of Clinical Investigation. 127:2739-2750
Aldosterone-producing adenomas (APAs) are benign tumors of the adrenal gland that constitutively produce the salt-retaining steroid hormone aldosterone and cause millions of cases of severe hypertension worldwide. Either of 2 somatic mutations in the
Autor:
Ashima Gulati, Jungmin Choi, Sohan Punia, Richard P. Lifton, Shrikant Mane, Anna Rachel Gallagher, Sorin V. Fedeles, Murim Choi, Simone Sanna-Cherchi, Terry Watnick, Vicente E. Torres, York Pei, James R. Knight, Emily B. Huang, Ke Dong, Whitney Besse, Esa Tahvanainen, Pia Tahvanainen, Stefan Somlo
Publikováno v:
Journal of Clinical Investigation. 127:1772-1785
Dominantly inherited isolated polycystic liver disease (PCLD) consists of liver cysts that are radiologically and pathologically identical to those seen in autosomal dominant polycystic kidney disease, but without clinically relevant kidney cysts. Th
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Autor:
Jacek Majewski, A. Madrid, Babak Oskouian, Yves Sznajer, Julie Désir, Julie Patat, York Pei, Megan A. Cooper, Weizhen Tan, Elisabet Ars, Monica Furlano, Anne-Sophie Truant, Alain Schmitt, Rainer Wilcken, Won-Il Choi, Navina Kuss, Carolin E. Sadowski, Corinne Antignac, Jillian S. Parboosingh, Vilain Catheline, Marcia C. Willing, Christelle Arrondel, Jia Rao, Vikas R. Dharnidharka, Johanna Magdalena Schmidt, Nicola A.M. Wright, Thomas Giese, Martin Zenker, Brigitte Adams, Franz Schaefer, Richard P. Lifton, Noelle Lachaussée, Merlin Airik, Ingolf Franke, Klaus Schwarz, Julie D. Saba, David Schapiro, Guido Capitani, Seema Hashmi, Howard Riezman, Ronald Biemann, Johann Greil, Vladimir Girik, Anne M Connolly, Shazia Ashraf, Nuria Lloberas, Julian P. Midgley, Denny Schanze, Svjetlana Lovric, Matias Simons, Friedhelm Hildebrandt, Sara Gonçalves, Vincent Vuiblet, Heon Yung Gee, Eugen Widmeier, Tilman Jobst-Schwan, Francois P. Bernier, A. Micheil Innes, Olivier Gribouval, Olivia Boyer, Jung H. Suh, Ryan E. Lamont, Honnappa Srinivas, Daniela A. Braun, Shirlee Shril
Publikováno v:
Journal of Clinical Investigation, Vol. 127, no.3, p. 912-928 (2017)
JOURNAL OF CLINICAL INVESTIGATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical Investigation, Vol. 127, No 3 (2017) pp. 912-928
Recercat. Dipósit de la Recerca de Catalunya
instname
JOURNAL OF CLINICAL INVESTIGATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical Investigation, Vol. 127, No 3 (2017) pp. 912-928
Recercat. Dipósit de la Recerca de Catalunya
instname
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e691abe1f6479437ce05e74e30dfd7
https://hdl.handle.net/2078.1/204417
https://hdl.handle.net/2078.1/204417
Autor:
Amelie T. van der Ven, Weizhen Tan, Heon Yung Gee, Mohan Shenoy, Mohamad Aman Jairajpuri, Won-Il Choi, Tobias Hermle, Krisztina Fehér, Ankana Daga, Yincent Tse, Richard P. Lifton, Martin Bald, Friedhelm Hildebrandt, Sherif El Desoky, Seema Khurana, Shirlee Shril, Afig Berdeli, Svjetlana Lovric, Arvind Bagga, Jameela A. Kari, David Schapiro, Daniela A. Braun, Johanna Magdalena Schmidt, Sevgi Mir, Neveen A. Soliman, José C. Martins, Shrikant Mane, Jia Rao, Udo Helmchen, Ronen Schneider, Eugen Widmeier, Tilman Jobst-Schwan, Sudeep P. George, Jillian K. Warejko, Ahmet Nayir, Amin Esmaeilniakooshkghazi, Shazia Ashraf
PubMed ID: 29058690
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of chronic kidney disease. Here, we identified recessive mutations in the gene encoding the actin-binding protein advillin (AVIL) in 3 unrelated families with SR
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of chronic kidney disease. Here, we identified recessive mutations in the gene encoding the actin-binding protein advillin (AVIL) in 3 unrelated families with SR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a4cc52790ea4c21e7da32f81683af4e
https://hdl.handle.net/11454/25349
https://hdl.handle.net/11454/25349
Autor:
Wei Liu, Lynn M. Boyden, Jack A. Elias, Michael R. Blackburn, Hays W. J. Young, Robert J. Homer, Richard P. Lifton, Richard A. Flavell, Chun-Xiao Sun, Bing Ma, Chun Geun Lee
Publikováno v:
Journal of Clinical Investigation. 116:1274-1283
To define the factors that control the tissue effects of IL-4, we compared the effects of Tg IL-4 in Balb/c and C57BL/6 mice. In the former, IL-4 caused modest eosinophilic inflammation and mild airway fibrosis and did not shorten survival. In C57BL/