Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Jonathan D. Porath"'
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:
Wesley R Lewis, Erik B Malarkey, Douglas Tritschler, Raqual Bower, Raymond C Pasek, Jonathan D Porath, Susan E Birket, Sophie Saunier, Corinne Antignac, Michael R Knowles, Margaret W Leigh, Maimoona A Zariwala, Anil K Challa, Robert A Kesterson, Steven M Rowe, Iain A Drummond, John M Parant, Friedhelm Hildebrandt, Mary E Porter, Bradley K Yoder, Nicolas F Berbari
Publikováno v:
PLoS Genetics, Vol 12, Iss 7, p e1006220 (2016)
Ciliopathies are genetic disorders arising from dysfunction of microtubule-based cellular appendages called cilia. Different cilia types possess distinct stereotypic microtubule doublet arrangements with non-motile or 'primary' cilia having a 9+0 and
Externí odkaz:
https://doaj.org/article/7c98f36db5424abc93f80eefd82caaec
Autor:
William J. Meurer, Jessica L. Winkels, Chelsea Morrow Smith, Jonathan D. Porath, Rahul Iyengar, Arjun P. Meka
Publikováno v:
Academic Emergency Medicine. 26:1117-1124
BACKGROUND Excessive diagnostic testing and defensive medicine contribute to billions of dollars in avoidable costs in the United States annually. Our objective was to determine the influence of financial incentives, accompanied with information rega
Autor:
Chelsea Morrow, Eytan Shtull-Leber, Angela Fagerlin, Rahul Iyengar, William J. Meurer, Jonathan D. Porath, Arjun P. Meka
Publikováno v:
Academic Emergency Medicine. 25:627-633
BACKGROUND Diagnostic testing is common during emergency department (ED) visits. Little is understood about patient preferences for such testing. We hypothesized that a patient's willingness to undergo diagnostic testing is influenced by the potentia
Autor:
Smith Cm, Rahul Iyengar, William J. Meurer, Jessica L. Winkels, Jonathan D. Porath, Arjun P. Meka
BackgroundLow-value diagnostic testing adds billions of dollars to the cost of health care in the US annually. Addressing patient preference for these tests is one possible strategy to limit overuse. In previous work, we showed that patient preferenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22321021af9671e13eab0bf1b26bd777
https://doi.org/10.1101/19008391
https://doi.org/10.1101/19008391
Autor:
Rahul Iyengar, Jessica Winkels, Chelsea Morrow Smith, Arjun P. Meka, Jonathan D. Porath, William J. Meurer
BackgroundExcessive diagnostic testing and defensive medicine contribute to billions of dollars in avoidable costs in the US annually. Our objective was to determine the influence of financial incentives, accompanied with information regarding test r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e6d7644647d7b564c99a8cb40ee82ee
https://doi.org/10.31219/osf.io/4mdfw
https://doi.org/10.31219/osf.io/4mdfw
Autor:
Sunder Sims-Lucas, Elina Mukherjee, Jang Cho, Friedhelm Hildebrandt, Merlin Airik, Rannar Airik, Markus Schueler, Jonathan D. Porath
Publikováno v:
Journal of the American Society of Nephrology. 27:3552-3559
Karyomegalic interstitial nephritis (KIN) is a chronic interstitial nephropathy characterized by tubulointerstitial nephritis and formation of enlarged nuclei in the kidneys and other tissues. We recently reported that recessive mutations in the gene
Autor:
Jennifer A. Lawson, Shirlee Shril, John A. Sayer, Nurcan Cengiz, Markus Schueler, Fatih Ozaltin, Adila Al Kindy, Jan Halbritter, Jonathan D. Porath, Edgar A. Otto, Deborah R. Stein, Rannar Airik, Daniela A. Braun, Friedhelm Hildebrandt, Richard P. Lifton, Bodo B. Beck, Seema Hashmi, Khemchand N. Moorani, Neveen A. Soliman, Heon Yung Gee, Susan J. Allen, Detlef Bockenhauer
Publikováno v:
Kidney international
Chronically increased echogenicity on renal ultrasound is a sensitive early finding of chronic kidney disease that can be detected before manifestation of other symptoms. Increased echogenicity, however, is not specific for a certain etiology of chro
Autor:
Amelie T. van der Ven, Anna Pavlova, Jonathan D. Porath, Stefan Kohl, Alina C. Hilger, Osman El-Maarri, Jan Halbritter, Heiko Reutter, Gabriel C. Dworschak, Friedhelm Hildebrandt, Daniela A. Braun, Michael Ludwig, Bernhard G. Hermann, Daw-Yang Hwang, Georgia Sarma, Markus M. Nöthen, Tracie Pennimpede
Publikováno v:
Human Mutation. 36:1150-1154
The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects
Autor:
Ari J. Wassner, Ann Marie Hynes, David T. Thwaites, John A. Sayer, Caleb P. Nelson, Zoran Gucev, Michelle A. Baum, Brittany Fisher, Sarah J. Rice, Leslie Spaneas, Daniela A. Braun, Jonathan D. Porath, Velibor Tasic, Friedhelm Hildebrandt, Jan Halbritter
Publikováno v:
Journal of the American Society of Nephrology. 26:543-551
Nephrolithiasis is a prevalent condition with a high morbidity. Although dozens of monogenic causes have been identified, the fraction of single-gene disease has not been well studied. To determine the percentage of cases that can be molecularly expl