Genetic testing in steroid-resistant nephrotic syndrome: when and how?

Por Lovric, Svjetlana, Ashraf, Shazia, Tan, Weizhen, Hildebrandt, Friedhelm
Publicado no Nephrol Dial Transplant (2016)

Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients

Por Ovunc, Bugsu, Ashraf, Shazia, Vega-Warner, Virginia, Bockenhauer, Detlef, Elshakhs, Neveen A Soliman, Joseph, Mark, Hildebrandt, Friedhelm
Publicado no Nephron Clin Pract (2012)

Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24

Por Ashraf, Shazia, Hoskins, Bethan E., Chaib, Hassan, Hoefele, Julia, Pasch, Andreas, Saisawat, Pawaree, Trefz, Friedrich, Hacker, Hans W., Nuernberg, Gudrun, Nuernberg, Peter, Otto, Edgar A., Hildebrandt, Friedhelm
Publicado em 2010

Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout

Por Jobst-Schwan, Tilman, Hoogstraten, Charlotte A., Kolvenbach, Caroline M., Schmidt, Johanna Magdalena, Kolb, Amy, Eddy, Kaitlyn, Schneider, Ronen, Ashraf, Shazia, Widmeier, Eugen, Majmundar, Amar J., Hildebrandt, Friedhelm
Publicado no Kidney Int (2019)

Exome Sequencing Reveals Cubilin Mutation as a Single-Gene Cause of Proteinuria

Por Ovunc, Bugsu, Otto, Edgar A., Vega-Warner, Virginia, Saisawat, Pawaree, Ashraf, Shazia, Ramaswami, Gokul, Fathy, Hanan M., Schoeb, Dominik, Chernin, Gil, Lyons, Robert H., Yilmaz, Engin, Hildebrandt, Friedhelm
Publicado em 2011

Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function

Por Vazquez Fonseca, Luis, Doimo, Mara, Calderan, Cristina, Desbats, Maria Andrea, Acosta, Manuel J., Cerqua, Cristina, Cassina, Matteo, Ashraf, Shazia, Hildebrandt, Friedhelm, Sartori, Geppo, Navas, Placido, Trevisson, Eva, Salviati, Leonardo
Publicado no Hum Mutat (2017)

Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome

Por Lovric, Svjetlana, Fang, Humphrey, Vega-Warner, Virginia, Sadowski, Carolin E., Gee, Heon Yung, Halbritter, Jan, Ashraf, Shazia, Saisawat, Pawaree, Soliman, Neveen A., Kari, Jameela A., Otto, Edgar A., Hildebrandt, Friedhelm
Publicado em 2014

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

Por Schoeb, Dominik S., Chernin, Gil, Heeringa, Saskia F., Matejas, Verena, Held, Susanne, Vega-Warner, Virginia, Bockenhauer, Detlef, Vlangos, Christopher N., Moorani, Khemchand N., Neuhaus, Thomas J., Kari, Jameela A., MacDonald, James, Saisawat, Pawaree, Ashraf, Shazia, Ovunc, Bugsu, Zenker, Martin, Hildebrandt, Friedhelm
Publicado em 2010

Analysis of 24 genes reveals a monogenic cause in 11.1 % of cases with steroid resistant nephrotic syndrome at a single center

Por Tan, Weizhen, Lovric, Svjetlana, Ashraf, Shazia, Rao, Jia, Schapiro, David, Airik, Merlin, Shril, Shirlee, Gee, Heon Yung, Baum, Michelle, Daouk, Ghaleb, Ferguson, Michael A., Rodig, Nancy, Somers, Michael JG., Stein, Deborah R., Vivante, Asaf, Warejko, Jillian K., Widmeier, Eugen, Hildebrandt, Friedhelm
Publicado no Pediatr Nephrol (2017)

Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2

Por Zhu, Bingbing, Cao, Aili, Li, Jianhua, Young, James, Wong, Jenny, Ashraf, Shazia, Bierzynska, Agnieszka, Menon, Madhav C., Hou, Steven, Sawyers, Charles, Campbell, Kirk N., Saleem, Moin A., He, John C., Hildebrandt, Friedhelm, D’Agati, Vivette D., Peng, Wen, Kaufman, Lewis
Publicado no Kidney Int (2019)

Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome

Por Ebarasi, Lwaki, Ashraf, Shazia, Bierzynska, Agnieszka, Gee, Heon Yung, McCarthy, Hugh J., Lovric, Svjetlana, Sadowski, Carolin E., Pabst, Werner, Vega-Warner, Virginia, Fang, Humphrey, Koziell, Ania, Simpson, Michael A., Dursun, Ismail, Serdaroglu, Erkin, Levy, Shawn, Saleem, Moin A., Hildebrandt, Friedhelm, Majumdar, Arindam
Publicado no Am J Hum Genet (2015)

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

Por Gee, Heon Yung, Ashraf, Shazia, Wan, Xiaoyang, Vega-Warner, Virginia, Esteve-Rudd, Julian, Lovric, Svjetlana, Fang, Humphrey, Hurd, Toby W., Sadowski, Carolin E., Allen, Susan J., Otto, Edgar A., Korkmaz, Emine, Washburn, Joseph, Levy, Shawn, Williams, David S., Bakkaloglu, Sevcan A., Zolotnitskaya, Anna, Ozaltin, Fatih, Zhou, Weibin, Hildebrandt, Friedhelm
Publicado em 2014

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children

Por Schapiro, David, Daga, Ankana, Lawson, Jennifer A, Majmundar, Amar J, Lovric, Svjetlana, Tan, Weizhen, Warejko, Jillian K, Fessi, Inés, Rao, Jia, Airik, Merlin, Gee, Heon Yung, Schneider, Ronen, Widmeier, Eugen, Hermle, Tobias, Ashraf, Shazia, Jobst-Schwan, Tilman, van der Ven, Amelie T, Nakayama, Makiko, Shril, Shirlee, Braun, Daniela A, Hildebrandt, Friedhelm
Publicado no Nephrol Dial Transplant (2019)

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

Por Gee, Heon Yung, Zhang, Fujian, Ashraf, Shazia, Kohl, Stefan, Sadowski, Carolin E., Vega-Warner, Virginia, Zhou, Weibin, Lovric, Svjetlana, Fang, Humphrey, Nettleton, Margaret, Zhu, Jun-yi, Hoefele, Julia, Weber, Lutz T., Podracka, Ludmila, Boor, Andrej, Fehrenbach, Henry, Innis, Jeffrey W., Washburn, Joseph, Levy, Shawn, Lifton, Richard P., Otto, Edgar A., Han, Zhe, Hildebrandt, Friedhelm
Publicado no J Clin Invest (2015)

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Por Sadowski, Carolin E., Lovric, Svjetlana, Ashraf, Shazia, Pabst, Werner L., Gee, Heon Yung, Kohl, Stefan, Engelmann, Susanne, Vega-Warner, Virginia, Fang, Humphrey, Halbritter, Jan, Somers, Michael J., Tan, Weizhen, Shril, Shirlee, Fessi, Inès, Lifton, Richard P., Bockenhauer, Detlef, El-Desoky, Sherif, Kari, Jameela A., Zenker, Martin, Kemper, Markus J., Mueller, Dominik, Fathy, Hanan M., Soliman, Neveen A., Hildebrandt, Friedhelm
Publicado no J Am Soc Nephrol (2015)

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome

Por Braun, Daniela A., Shril, Shirlee, Sinha, Aditi, Schneider, Ronen, Tan, Weizhen, Ashraf, Shazia, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J., Daga, Ankana, Warejko, Jillian K., Nakayama, Makiko, Schapiro, David, Chen, Jing, Airik, Merlin, Rao, Jia, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Hugo, Hannah, Meena, Jitendra, Lek, Monkol, Laricchia, Kristen M., Bagga, Arvind, Hildebrandt, Friedhelm
Publicado no Am J Med Genet A (2018)

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome

Por Braun, Daniela A, Warejko, Jillian K, Ashraf, Shazia, Tan, Weizhen, Daga, Ankana, Schneider, Ronen, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J, Nakayama, Makiko, Schapiro, David, Rao, Jia, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A, Hugo, Hannah, Bakkaloglu, Sevcan A, Kari, Jameela A, El Desoky, Sherif, Daouk, Ghaleb, Mane, Shrikant, Lifton, Richard P, Shril, Shirlee, Hildebrandt, Friedhelm
Publicado no Nephrol Dial Transplant (2019)

Mutations in nuclear pore genes NUP93, NUP205, and XPO5 cause steroid resistant nephrotic syndrome

Por Braun, Daniela A., Sadowski, Carolin E., Kohl, Stefan, Lovric, Svjetlana, Astrinidis, Susanne A., Pabst, Werner L., Gee, Heon Yung, Ashraf, Shazia, Lawson, Jennifer A., Shril, Shirlee, Airik, Merlin, Tan, Weizhen, Schapiro, David, Rao, Jia, Choi, Won-Il, Hermle, Tobias, Kemper, Markus J., Pohl, Martin, Ozaltin, Fatih, Konrad, Martin, Bogdanovic, Radovan, Büscher, Rainer, Helmchen, Udo, Serdaroglu, Erkin, Lifton, Richard P., Antonin, Wolfram, Hildebrandt, Friedhelm
Publicado no Nat Genet (2016)

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

Por Hildebrandt, Friedhelm, Heeringa, Saskia F., Rüschendorf, Franz, Attanasio, Massimo, Nürnberg, Gudrun, Becker, Christian, Seelow, Dominik, Huebner, Norbert, Chernin, Gil, Vlangos, Christopher N., Zhou, Weibin, O'Toole, John F., Hoskins, Bethan E., Wolf, Matthias T. F., Hinkes, Bernward G., Chaib, Hassan, Ashraf, Shazia, Schoeb, Dominik S., Ovunc, Bugsu, Allen, Susan J., Vega-Warner, Virginia, Wise, Eric, Harville, Heather M., Lyons, Robert H., Washburn, Joseph, MacDonald, James, Nürnberg, Peter, Otto, Edgar A.
Publicado em 2009

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

Por Gee, Heon Yung, Saisawat, Pawaree, Ashraf, Shazia, Hurd, Toby W., Vega-Warner, Virginia, Fang, Humphrey, Beck, Bodo B., Gribouval, Olivier, Zhou, Weibin, Diaz, Katrina A., Natarajan, Sivakumar, Wiggins, Roger C., Lovric, Svjetlana, Chernin, Gil, Schoeb, Dominik S., Ovunc, Bugsu, Frishberg, Yaacov, Soliman, Neveen A., Fathy, Hanan M., Goebel, Heike, Hoefele, Julia, Weber, Lutz T., Innis, Jeffrey W., Faul, Christian, Han, Zhe, Washburn, Joseph, Antignac, Corinne, Levy, Shawn, Otto, Edgar A., Hildebrandt, Friedhelm
Publicado em 2013