Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Humphrey Fang"'
Autor:
Heon Yung Gee, Carolin E. Sadowski, Pardeep K. Aggarwal, Jonathan D. Porath, Toma A. Yakulov, Markus Schueler, Svjetlana Lovric, Shazia Ashraf, Daniela A. Braun, Jan Halbritter, Humphrey Fang, Rannar Airik, Virginia Vega-Warner, Kyeong Jee Cho, Timothy A. Chan, Luc G. T. Morris, Charles ffrench-Constant, Nicholas Allen, Helen McNeill, Rainer Büscher, Henriette Kyrieleis, Michael Wallot, Ariana Gaspert, Thomas Kistler, David V. Milford, Moin A. Saleem, Wee Teik Keng, Stephen I. Alexander, Rudolph P. Valentini, Christoph Licht, Jun C. Teh, Radovan Bogdanovic, Ania Koziell, Agnieszka Bierzynska, Neveen A. Soliman, Edgar A. Otto, Richard P. Lifton, Lawrence B. Holzman, Nicholas E. S. Sibinga, Gerd Walz, Alda Tufro, Friedhelm Hildebrandt
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)
Steroid-sensitive nephrotic syndrome (SRNS) can cause CKD and necessitate kidney transplant. Here the authors identify FAT1 mutations by homozygosity mapping and whole-exome sequencing in families with SRNS and provide functional mouse and zebrafish
Externí odkaz:
https://doaj.org/article/28d36207928640028a9a892d5c32fd4f
Autor:
Edgar A. Otto, Jan Halbritter, Heon Yung Gee, Friedhelm Hildebrandt, Pawaree Saisawat, Neveen A. Soliman, Humphrey Fang, Virginia Vega-Warner, Carolin E. Sadowski, Shazia Ashraf, Svjetlana Lovric, Jameela A. Kari
Publikováno v:
Clinical Journal of the American Society of Nephrology. 9:1109-1116
In steroid-resistant nephrotic syndrome (SRNS),21 single-gene causes are known. However, mutation analysis of all known SRNS genes is time and cost intensive. This report describes a new high-throughput method of mutation analysis using a PCR-based m
Autor:
Virginia Vega-Warner, Toby W. Hurd, Friedhelm Hildebrandt, Jeffrey W. Innis, Neveen A. Soliman, Weibin Zhou, Christian Faul, Yaacov Frishberg, Bodo B. Beck, Olivier Gribouval, Katrina A. Diaz, Gil Chernin, Zhe Han, Shawn Levy, Edgar A. Otto, Dominik S. Schoeb, Heike Goebel, Heon Yung Gee, Joseph Washburn, Pawaree Saisawat, Sivakumar Natarajan, Lutz T. Weber, Hanan M. Fathy, Shazia Ashraf, Bugsu Ovunc, Humphrey Fang, Roger C. Wiggins, Svjetlana Lovric, Corinne Antignac, Julia Hoefele
Publikováno v:
Gee, H Y, Saisawat, P, Ashraf, S, Hurd, T W, Vega-Warner, V, Fang, H, Beck, B B, Gribouval, O, Zhou, W, Diaz, K A, Natarajan, S, Wiggins, R C, Lovric, S, Chernin, G, Schoeb, D S, Ovunc, B, Frishberg, Y, Soliman, N A, Fathy, H M, Goebel, H, Hoefele, J, Weber, L T, Innis, J W, Faul, C, Han, Z, Washburn, J, Antignac, C, Levy, S, Otto, E A & Hildebrandt, F 2013, ' ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling ', Journal of Clinical Investigation, vol. 123, no. 8, pp. 3243-53 . https://doi.org/10.1172/JCI69134
Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease mechanisms of NS are not well understood, genetic mapping studies suggest
Autor:
Richard P. Lifton, Neveen A. Soliman, Lawrence B. Holzman, Jun C. Teh, Wee Teik Keng, Ania Koziell, Kyeong Jee Cho, Edgar A. Otto, Friedhelm Hildebrandt, Svjetlana Lovric, Luc G. T. Morris, Gerd Walz, Virginia Vega-Warner, Thomas Kistler, Ariana Gaspert, Alda Tufro, P. K. Aggarwal, Daniela A. Braun, Jonathan D. Porath, Carolin E. Sadowski, Radovan Bogdanovic, Stephen I. Alexander, Humphrey Fang, David V. Milford, Henriette Kyrieleis, Helen McNeill, Jan Halbritter, Agnieszka Bierzynska, Markus Schueler, Heon Yung Gee, Shazia Ashraf, Rainer Büscher, Moin A. Saleem, Nicholas D. Allen, Nicholas E.S. Sibinga, Toma A. Yakulov, Rannar Airik, Michael Wallot, Christoph Licht, Timothy A. Chan, Rudolph P. Valentini, Charles ffrench-Constant
Publikováno v:
Gee, H Y, Sadowski, C E, Aggarwal, P K, Porath, J D, Yakulov, T A, Schueler, M, Lovric, S, Ashraf, S, Braun, D A, Halbritter, J, Fang, H, Airik, R, Vega-Warner, V, Cho, K J, Chan, T A, Morris, L G T, ffrench-Constant, C, Allen, N, McNeill, H, Büscher, R, Kyrieleis, H, Wallot, M, Gaspert, A, Kistler, T, Milford, D V, Saleem, M A, Keng, W T, Alexander, S I, Valentini, R P, Licht, C, Teh, J C, Bogdanovic, R, Koziell, A, Bierzynska, A, Soliman, N A, Otto, E A, Lifton, R P, Holzman, L B, Sibinga, N E S, Walz, G, Tufro, A & Hildebrandt, F 2016, ' FAT1 mutations cause a glomerulotubular nephropathy ', Nature Communications, vol. 7, 10822 . https://doi.org/10.1038/ncomms10822
Gee, H Y, Sadowski, C E, Aggarwal, P K, Porath, J D, Yakulov, T A, Schueler, M, Lovric, S, Ashraf, S, Braun, D A, Halbritter, J, Fang, H, Airik, R, Vega-Warner, V, Cho, K J, Chan, T A, Morris, L G T, Ffrench-Constant, C, Allen, N, McNeill, H, Büscher, R, Kyrieleis, H, Wallot, M, Gaspert, A, Kistler, T, Milford, D V, Saleem, M A, Keng, W T, Alexander, S I, Valentini, R P, Licht, C, Teh, J C, Bogdanovic, R, Koziell, A, Bierzynska, A, Soliman, N A, Otto, E A, Lifton, R P, Holzman, L B, Sibinga, N E S, Walz, G, Tufro, A & Hildebrandt, F 2016, ' FAT1 mutations cause a glomerulotubular nephropathy ', Nature Communications, vol. 7, 10822 . https://doi.org/10.1038/ncomms10822
Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)
Nature Communications
Gee, H Y, Sadowski, C E, Aggarwal, P K, Porath, J D, Yakulov, T A, Schueler, M, Lovric, S, Ashraf, S, Braun, D A, Halbritter, J, Fang, H, Airik, R, Vega-Warner, V, Cho, K J, Chan, T A, Morris, L G T, ffrench-Constant, C, Allen, N, McNeill, H, Buscher, R, Kyrieleis, H, Wallot, M, Gaspert, A, Kistler, T, Milford, D V, Saleem, M A, Keng, W T, Alexander, S I, Valentini, R P, Licht, C, Teh, J C, Bogdanovic, R, Koziell, A, Bierzynska, A, Soliman, N A, Otto, E A, Lifton, R P, Holzman, L B, Sibinga, N E S, Walz, G, Tufro, A & Hildebrandt, F 2016, ' FAT1 mutations cause a glomerulotubular nephropathy ', Nature Communications . https://doi.org/10.1038/ncomms10822
Gee, H Y, Sadowski, C E, Aggarwal, P K, Porath, J D, Yakulov, T A, Schueler, M, Lovric, S, Ashraf, S, Braun, D A, Halbritter, J, Fang, H, Airik, R, Vega-Warner, V, Cho, K J, Chan, T A, Morris, L G T, Ffrench-Constant, C, Allen, N, McNeill, H, Büscher, R, Kyrieleis, H, Wallot, M, Gaspert, A, Kistler, T, Milford, D V, Saleem, M A, Keng, W T, Alexander, S I, Valentini, R P, Licht, C, Teh, J C, Bogdanovic, R, Koziell, A, Bierzynska, A, Soliman, N A, Otto, E A, Lifton, R P, Holzman, L B, Sibinga, N E S, Walz, G, Tufro, A & Hildebrandt, F 2016, ' FAT1 mutations cause a glomerulotubular nephropathy ', Nature Communications, vol. 7, 10822 . https://doi.org/10.1038/ncomms10822
Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)
Nature Communications
Gee, H Y, Sadowski, C E, Aggarwal, P K, Porath, J D, Yakulov, T A, Schueler, M, Lovric, S, Ashraf, S, Braun, D A, Halbritter, J, Fang, H, Airik, R, Vega-Warner, V, Cho, K J, Chan, T A, Morris, L G T, ffrench-Constant, C, Allen, N, McNeill, H, Buscher, R, Kyrieleis, H, Wallot, M, Gaspert, A, Kistler, T, Milford, D V, Saleem, M A, Keng, W T, Alexander, S I, Valentini, R P, Licht, C, Teh, J C, Bogdanovic, R, Koziell, A, Bierzynska, A, Soliman, N A, Otto, E A, Lifton, R P, Holzman, L B, Sibinga, N E S, Walz, G, Tufro, A & Hildebrandt, F 2016, ' FAT1 mutations cause a glomerulotubular nephropathy ', Nature Communications . https://doi.org/10.1038/ncomms10822
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease (CKD). Here we show that recessive mutations in FAT1 cause a distinct renal disease entity in four families with a combination of SRNS, tubular ectasia, haematuria and f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbc28796ef881fa8015d215f4abb501e
https://hdl.handle.net/1983/7bd31262-fcab-4fc2-a874-9f76767036b8
https://hdl.handle.net/1983/7bd31262-fcab-4fc2-a874-9f76767036b8
Autor:
Jun-yi Zhu, Virginia Vega-Warner, Joseph Washburn, A. Boor, Zhe Han, Humphrey Fang, Friedhelm Hildebrandt, Weibin Zhou, Carolin E. Sadowski, Shawn Levy, Julia Hoefele, Stefan Kohl, Lutz T. Weber, Richard P. Lifton, Fujian Zhang, Svjetlana Lovric, Shazia Ashraf, Heon Yung Gee, Margaret Nettleton, Edgar A. Otto, Jeffrey W. Innis, Ludmila Podracka, Henry Fehrenbach
Publikováno v:
The Journal of clinical investigation. 125(6)
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of progressive renal function decline and affects millions of people. In a recent study, 30% of SRNS cases evaluated were the result of monogenic mutations in 1 of 27 different genes. He
Autor:
Friedhelm Hildebrandt, Arindam Majumdar, Shawn Levy, Lwaki Ebarasi, Svjetlana Lovric, Carolin E. Sadowski, Virginia Vega-Warner, Michael A. Simpson, Werner L. Pabst, Heon Yung Gee, Ania Koziell, Erkin Serdaroglu, Ismail Dursun, Moin A. Saleem, Agnieszka Bierzynska, Shazia Ashraf, Hugh J. McCarthy, Humphrey Fang
Publikováno v:
American journal of human genetics. 96(1)
Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive (SSNS) and steroid-resistant (SRNS) forms. SRNS regularly progresses to end-stage renal failu
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
Autor:
John F. O’Toole, Joseph Washburn, Richard A. Lewis, Savas Ozturk, Jeffrey W. Innis, Toby W. Hurd, Khawla A Rahim, Ahmet Nayir, James W. MacDonald, Pawaree Saisawat, Erica E. Davis, Clementine Fu, Rannar Airik, Nikola Jeck, Peter Nürnberg, Gunther Klaus, Shawn Levy, Shazia Ashraf, Friedhelm Hildebrandt, Gudrun Nürnberg, Virginia Vega-Warner, Massimo Attanasio, Katrina A. Diaz, Humphrey Fang, Dorota Drozdz, Edgar A. Otto, Udo Vester, Ibrahim Al Attrach, Moumita Chaki, Ibrahim Al Hassoun, Weibin Zhou, Sabine Janssen, Andrew Cluckey, Susan J. Allen, Nicholas Katsanis, Gokul Ramaswami, Heon Yung Gee, Hanan M. Fathy, Udo Helmchen, Stefanie Weber, Stefan Kohl, Jamie L. Innis
Publikováno v:
Gee, H Y, Otto, E A, Hurd, T W, Ashraf, S, Chaki, M, Cluckey, A, Vega-Warner, V, Saisawat, P, Diaz, K A, Fang, H, Kohl, S, Allen, S J, Airik, R, Zhou, W, Ramaswami, G, Janssen, S, Fu, C, Innis, J L, Weber, S, Vester, U, Davis, E E, Katsanis, N, Fathy, H M, Jeck, N, Klaus, G, Nayir, A, Rahim, K A, Attrach, I A, Hassoun, I A, Ozturk, S, Drozdz, D, Helmchen, U, O'Toole, J F, Attanasio, M, Lewis, R A, Nürnberg, G, Nürnberg, P, Washburn, J, Macdonald, J, Innis, J W, Levy, S & Hildebrandt, F 2013, ' Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies ', Kidney International . https://doi.org/10.1038/ki.2013.450
Kidney International; Vol 85
Kidney international
Kidney International; Vol 85
Kidney international
Rare single-gene disorders cause chronic disease. However, half of the 6000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::542250aee492e573e845add2a8319913
https://ruj.uj.edu.pl/xmlui/handle/item/132467
https://ruj.uj.edu.pl/xmlui/handle/item/132467
Autor:
Friedhelm Hildebrandt, Virginia Vega-Warner, Heon Yung Gee, Emine Korkmaz, Joseph Washburn, David S. Williams, Julian Esteve-Rudd, Weibin Zhou, Sevcan A. Bakkaloglu, Svjetlana Lovric, Shazia Ashraf, Humphrey Fang, Xiaoyang Wan, Carolin E. Sadowski, Anna Zolotnitskaya, Edgar A. Otto, Fatih Ozaltin, Shawn Levy, Toby W. Hurd, Susan J. Allen
Publikováno v:
American journal of human genetics, vol 94, iss 6
Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS). SRNS inevitably leads to end-stage kidney disease, and no curative treatment is available. To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a5d23ab5ffa90f16cacd548286f7d0b
https://aperta.ulakbim.gov.tr/record/65183
https://aperta.ulakbim.gov.tr/record/65183
Autor:
Daniel C. Cattran, Andrew D. Paterson, Holger Prokisch, Shawn Levy, Julian Esteve-Rudd, Birgit Haberberger, Mohamed H Al-Hamed, Weibin Zhou, Catherine F. Clarke, Humphrey Fang, Pierre Cochat, Robert Kleta, Susan J. Allen, Sherif El Desoky, Faysal Gok, Xuewen Song, Richard P. Lifton, Corinne Antignac, Moumita Barua, Friedhelm Hildebrandt, Carmen Avila-Casado, Agnieszka Bierzynska, David S. Williams, Detlef Bockenhauer, Duygu Övünç Hacıhamdioğlu, Roger C. Wiggins, Svjetlana Lovric, Jameela A. Kari, Shazia Ashraf, Edgar A. Otto, Martin R. Pollak, Rannar Airik, Heon Yung Gee, Letian X. Xie, Virginia Vega-Warner, Moin A. Saleem, Zhe Han, Murim Choi, York Pei, Joseph Washburn, Jonathan Evans, Christine Bole-Feysot, Patrick Nitschké, Stéphanie Woerner, Leonardo Salviati
Publikováno v:
The Journal of clinical investigation, vol 123, iss 12
J. Clin. Invest. 123, 5179-5189 (2013)
J. Clin. Invest. 123, 5179-5189 (2013)
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination of homozygosity mapping and whole human exome resequencing, we identifi
Autor:
Ashraf, Shazia1, Heon Yung Gee1, Woerner, Stephanie2,3, Letian X. Xie4, Vega-Warner, Virginia5, Lovric, Svjetlana1, Humphrey Fang1, Xuewen Song6, Cattran, Daniel C.6, Avila-Casado, Carmen7, Paterson, Andrew D.8, Nitschké, Patrick9, Bole-Feysot, Christine10, Cochat, Pierre11, Esteve-Rudd, Julian12, Haberberger, Birgit13,14, Allen, Susan J.5, Weibin Zhou5, Airik, Rannar1, Otto, Edgar A.5
Publikováno v:
Journal of Clinical Investigation. Dec2013, Vol. 123 Issue 12, p5179-5189. 10p. 5 Color Photographs, 1 Black and White Photograph, 1 Chart.