Single-Gene Causes of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) in Humans

Por Vivante, Asaf, Kohl, Stefan, Hwang, Daw-Yang, Dworschak, Gabriel C., Hildebrandt, Friedhelm
Publicado no Pediatr Nephrol (2014)

Identification of cyanobacterial non-coding RNAs by comparative genome analysis

Por Axmann, Ilka M, Kensche, Philip, Vogel, Jörg, Kohl, Stefan, Herzel, Hanspeter, Hess, Wolfgang R
Publicado em 2005

Metabolic and transcriptional transitions in barley glumes reveal a role as transitory resource buffers during endosperm filling

Por Kohl, Stefan, Hollmann, Julien, Erban, Alexander, Kopka, Joachim, Riewe, David, Weschke, Winfriede, Weber, Hans
Publicado no J Exp Bot (2015)

Gibberellin-to-abscisic acid balances govern development and differentiation of the nucellar projection of barley grains

Por Weier, Diana, Thiel, Johannes, Kohl, Stefan, Tarkowská, Danuše, Strnad, Miroslav, Schaarschmidt, Sara, Weschke, Winfriede, Weber, Hans, Hause, Bettina
Publicado em 2014

Microtubule Associated Protein 1b (MAP1B) Is a Marker of the Microtubular Cytoskeleton in Podocytes but Is Not Essential for the Function of the Kidney Filtration Barrier in Mice

Por Gödel, Markus, Temerinac, Dunja, Grahammer, Florian, Hartleben, Björn, Kretz, Oliver, Riederer, Beat M., Propst, Friedrich, Kohl, Stefan, Huber, Tobias B.
Publicado no PLoS One (2015)

Hormone-mediated growth dynamics of the barley pericarp as revealed by magnetic resonance imaging and transcript profiling

Por Pielot, Rainer, Kohl, Stefan, Manz, Bertram, Rutten, Twan, Weier, Diana, Tarkowská, Danuše, Rolčík, Jakub, Strnad, Miroslav, Volke, Frank, Weber, Hans, Weschke, Winfriede
Publicado no J Exp Bot (2015)

A putative role for amino acid permeases in sink-source communication of barley tissues uncovered by RNA-seq

Por Kohl, Stefan, Hollmann, Julien, Blattner, Frank R, Radchuk, Volodymyr, Andersch, Franka, Steuernagel, Burkhard, Schmutzer, Thomas, Scholz, Uwe, Krupinska, Karin, Weber, Hans, Weschke, Winfriede
Publicado em 2012

Increasing Sucrose Uptake Capacity of Wheat Grains Stimulates Storage Protein Synthesis

Por Weichert, Nicola, Saalbach, Isolde, Weichert, Heiko, Kohl, Stefan, Erban, Alexander, Kopka, Joachim, Hause, Bettina, Varshney, Alok, Sreenivasulu, Nese, Strickert, Marc, Kumlehn, Jochen, Weschke, Winfriede, Weber, Hans
Publicado em 2010

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

Por Halbritter, Jan, Porath, Jonathan D., Diaz, Katrina A., Braun, Daniela A., Kohl, Stefan, Chaki, Moumita, Allen, Susan J., Soliman, Neveen A., Hildebrandt, Friedhelm, Otto, Edgar A.
Publicado no Hum Genet (2013)

Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

Por Kohl, Stefan, Hwang, Daw-Yang, Dworschak, Gabriel C., Hilger, Alina C., Saisawat, Pawaree, Vivante, Asaf, Stajic, Natasa, Bogdanovic, Radovan, Reutter, Heiko M., Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
Publicado em 2014

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

Por Hwang, Daw-Yang, Dworschak, Gabriel C., Kohl, Stefan, Saisawat, Pawaree, Vivante, Asaf, Hilger, Alina C., Reutter, Heiko M., Soliman, Neveen A., Bogdanovic, Radovan, Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
Publicado em 2014

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract

Por Vivante, Asaf, Hwang, Daw-Yang, Kohl, Stefan, Chen, Jing, Shril, Shirlee, Schulz, Julian, van der Ven, Amelie, Daouk, Ghaleb, Soliman, Neveen A., Kumar, Aravind Selvin, Senguttuvan, Prabha, Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
Publicado no J Am Soc Nephrol (2017)

Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract

Por Kohl, Stefan, Chen, Jing, Vivante, Asaf, Hwang, Daw-Yang, Shril, Shirlee, Dworschak, Gabriel C., Van Der Ven, Amelie, Sanna-Cherchi, Simone, Bauer, Stuart B., Lee, Richard S., Soliman, Neveen A., Kehinde, Elijah O., Reutter, Heiko M., Tasic, Velibor, Hildebrandt, Friedhelm
Publicado no Nephrol Dial Transplant (2016)

Targeted re-sequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association

Por Hilger, Alina C., Halbritter, Jan, Pennimpede, Tracie, van der Ven, Amelie, Sarma, Georgia, Braun, Daniela A., Porath, Jonathan D., Kohl, Stefan, Hwang, Daw-Yung, Dworschak, Gabriel C., Hermann, Bernhard G., Pavlova, Anna, El-Maarri, Osman, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko, Hildebrandt, Friedhelm
Publicado no Hum Mutat (2015)

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 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)

Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 Confer Risk for Congenital Anomalies of the Kidney and Urinary Tract

Por Hwang, Daw-Yang, Kohl, Stefan, Fan, Xueping, Vivante, Asaf, Chan, Stefanie, Dworschak, Gabriel C, Schulz, Julian, van Eerde, Albertien M, Hilger, Alina C, Gee, Heon Yung, Pennimpede, Tracie, Herrmann, Bernhard G, van de Hoek, Glenn, Renkema, Kirsten Y, Schell, Christoph, Huber, Tobias B, Reutter, Heiko M, Soliman, Neveen A, Stajic, Natasa, Bogdanovic, Radovan, Kehinde, Elijah O, Lifton, Richard P, Tasic, Velibor, Lu, Weining, Hildebrandt, Friedhelm
Publicado no Hum Genet (2015)

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Por Saisawat, Pawaree, Kohl, Stefan, Hilger, Alina C., Hwang, Daw-Yang, Gee, Heon Yung, Dworschak, Gabriel C., Tasic, Velibor, Pennimpede, Tracie, Natarajan, Sivakumar, Sperry, Ethan, Matassa, Danilo S., Stajić, Nataša, Bogdanovic, Radovan, de Blaauw, Ivo, Marcelis, Carlo L.M., Wijers, Charlotte H.W., Bartels, Enrika, Schmiedeke, Eberhard, Schmidt, Dominik, Mäzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Ludwig, Michael, Nöhen, Markus M., Draaken, Markus, Brosens, Erwin, Heij, Hugo, Tibboel, Dick, Herrmann, Bernhard G., Solomon, Benjamin D., de Klein, Annelies, van Rooij, Iris A.L.M., Esposito, Franca, Reutter, Heiko M., Hildebrandt, Friedhelm
Publicado em 2013

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

Por Vivante, Asaf, Kleppa, Marc-Jens, Schulz, Julian, Kohl, Stefan, Sharma, Amita, Chen, Jing, Shril, Shirlee, Hwang, Daw-Yang, Weiss, Anna-Carina, Kaminski, Michael M., Shukrun, Rachel, Kemper, Markus J., Lehnhardt, Anja, Beetz, Rolf, Sanna-Cherchi, Simone, Verbitsky, Miguel, Gharavi, Ali G., Stuart, Helen M., Feather, Sally A., Goodship, Judith A., Goodship, Timothy H.J., Woolf, Adrian S., Westra, Sjirk J., Doody, Daniel P., Bauer, Stuart B., Lee, Richard S., Adam, Rosalyn M., Lu, Weining, Reutter, Heiko M., Kehinde, Elijah O., Mancini, Erika J., Lifton, Richard P., Tasic, Velibor, Lienkamp, Soeren S., Jüppner, Harald, Kispert, Andreas, Hildebrandt, Friedhelm
Publicado no Am J Hum Genet (2015)