Anzahl der Einträge: 22.
2024
2023
Meindl, Katrin ,
Issler, Naomi,
Afonso, Sara Cerqueira,
Cebrian-Serrano, Alberto,
Müller-Decker, Karin,
Sterner, Christina,
Othmen, Helga,
Tegtmeier, Ines,
Witzgall, Ralph ,
Klootwijk, Enriko D.,
Davies, Benjamin,
Kleta, Robert und
Warth, Richard
(2023)
A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility.
Frontiers in Cell and Developmental Biology 11.
Stanzick, Kira J. ,
Stark, Klaus J.,
Gorski, Mathias ,
Schödel, Johannes,
Krüger, René,
Kronenberg, Florian,
Warth, Richard ,
Heid, Iris M. und
Winkler, Thomas W.
(2023)
KidneyGPS: a user-friendly web application to help prioritize kidney function genes and variants based on evidence from genome-wide association studies.
BMC Bioinformatics 24 (1).
2022
Issler, Naomi,
Afonso, Sara,
Weissman, Irith,
Jordan, Katrin,
Cebrian-Serrano, Alberto,
Meindl, Katrin,
Dahlke, Eileen,
Tziridis, Konstantin,
Yan, Guanhua,
Robles-López, José M.,
Tabernero, Lydia ,
Patel, Vaksha,
Kesselheim, Anne,
Klootwijk, Enriko D.,
Stanescu, Horia C.,
Dumitriu, Simona,
Iancu, Daniela,
Tekman, Mehmet,
Mozere, Monika,
Jaureguiberry, Graciana,
Outtandy, Priya,
Russell, Claire,
Forst, Anna-Lena,
Sterner, Christina,
Heinl, Elena-Sofia,
Othmen, Helga,
Tegtmeier, Ines,
Reichold, Markus,
Schiessl, Ina Maria ,
Limm, Katharina,
Oefner, Peter,
Witzgall, Ralph,
Fu, Lifei,
Theilig, Franziska,
Schilling, Achim,
Shuster Biton, Efrat,
Kalfon, Limor,
Fedida, Ayalla,
Arnon-Sheleg, Elite,
Ben Izhak, Ofer,
Magen, Daniella,
Anikster, Yair,
Schulze, Holger,
Ziegler, Christine,
Lowe, Martin,
Davies, Benjamin,
Böckenhauer, Detlef,
Kleta, Robert,
Falik Zaccai, Tzipora C. und
Warth, Richard
(2022)
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Journal of the American Society of Nephrology 33 (4), S. 732-745.
Issler, Naomi,
Afonso, Sara Cerqueira,
Weissman, Irith,
Jordan, Katrin,
Cebrian-Serrano, Alberto,
Meindl, Katrin,
Dahlke, Eileen,
Tziridis, Konstantin,
Yan, Guanhua,
Robles-López, José M.,
Tabernero, Lydia ,
Patel, Vaksha,
Kesselheim, Anne,
Klootwijk, Enriko D.,
Stanescu, Horia C.,
Dumitriu, Simona,
Iancu, Daniela,
Tekman, Mehmet,
Mozere, Monika,
Jaureguiberry, Graciana,
Outtandy, Priya,
Russell, Claire,
Forst, Anna-Lena,
Sterner, Christina,
Heinl, Elena-Sofia,
Othmen, Helga,
Tegtmeier, Ines,
Reichold, Markus,
Schiessl, Ina Maria ,
Limm, Katharina,
Oefner, Peter J.,
Witzgall, Ralph,
Fu, Lifei,
Theilig, Franziska,
Schilling, Achim,
Shuster Biton, Efrat,
Kalfon, Limor,
Fedida, Ayalla,
Arnon-Sheleg, Elite,
Ben Izhak, Ofer,
Magen, Daniella,
Anikster, Yair,
Schulze, Holger,
Ziegler, Christine,
Lowe, Martin,
Davies, Benjamin,
Böckenhauer, Detlef,
Kleta, Robert,
Falik Zaccai, Tzipora C. und
Warth, Richard
(2022)
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Journal of the American Society of Nephrology 33.
Volltext nicht vorhanden.
Neubauer, Jacqueline ,
Forst, Anna-Lena,
Warth, Richard ,
Both, Christian Peter,
Haas, Cordula und
Thomas, Jörg
(2022)
Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome.
Pediatric Research 92 (4), S. 1026-1033.
Volltext nicht vorhanden.
2021
Schlingmann, Karl P.,
Renigunta, Aparna,
Hoorn, Ewout J.,
Forst, Anna-Lena,
Renigunta, Vijay,
Atanasov, Velko,
Mahendran, Sinthura,
Barakat, Tahsin Stefan ,
Gillion, Valentine,
Godefroid, Nathalie,
Brooks, Alice S.,
Lugtenberg, Dorien,
Lake, Jennifer ,
Debaix, Huguette,
Rudin, Christoph,
Knebelmann, Bertrand,
Tellier, Stephanie,
Rousset-Rouvière, Caroline,
Viering, Daan,
de Baaij, Jeroen H. F. ,
Weber, Stefanie,
Palygin, Oleg ,
Staruschenko, Alexander,
Kleta, Robert,
Houillier, Pascal,
Bockenhauer, Detlef,
Devuyst, Olivier,
Vargas-Poussou, Rosa,
Warth, Richard ,
Zdebik, Anselm A. und
Konrad, Martin
(2021)
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Journal of the American Society of Nephrology 32 (6), S. 1498-1512.
Volltext nicht vorhanden.
2020
Gürtler, Florian,
Jordan, Katrin,
Tegtmeier, Ines,
Herold, Janina ,
Stindl, Julia,
Warth, Richard und
Bandulik, Sascha
(2020)
Cellular Pathophysiology of Mutant Voltage-Dependent Ca2+ Channel CACNA1H in Primary Aldosteronism.
Endocrinology 161 (10).
Volltext nicht vorhanden.
Penton, David,
Vohra, Twinkle,
Banki, Eszter,
Wengi, Agnieszka,
Weigert, Maria,
Forst, Anna-Lena,
Bandulik, Sascha,
Warth, Richard und
Loffing, Johannes
(2020)
Collecting system–specific deletion of Kcnj10 predisposes for thiazide- and low-potassium diet–induced hypokalemia.
Kidney International 97 (6), S. 1208-1218.
Volltext nicht vorhanden.
Morin, Matias ,
Forst, Anna-Lena,
Pérez-Torre, Paula,
Jiménez-Escrig, Adriano,
Barca-Tierno, Verónica,
García-Galloway, Eva,
Warth, Richard,
Lopez-Sendón Moreno, Jose Luis und
Moreno-Pelayo, Miguel Angel
(2020)
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
neurogenetics 21 (2), S. 135-143.
Volltext nicht vorhanden.
2018
Reichold, M.,
Klootwijk, E. D.,
Reinders, Jörg ,
Otto, E. A.,
Milani, M.,
Broeker, C.,
Laing, C.,
Wiesner, J.,
Devi, S.,
Zhou, W.,
Schmitt, R.,
Tegtmeier, I.,
Sterner, C.,
Doellerer, H.,
Renner, K.,
Oefner, Peter J. ,
Dettmer, Katja ,
Simbuerger, J.,
Witzgall, R.,
Stanescu, H. C.,
Dumitriu, S.,
Iancu, D.,
Patel, V.,
Mozere, M.,
Tekman, M.,
Jaureguiberry, G.,
Issler, N.,
Kesselheim, A.,
Walsh, S. B.,
Gale, D. P.,
Howie, A. J.,
Martins, J. R.,
Hall, A. M.,
Kasgharian, M.,
O'Brien, K.,
Ferreira, C. R.,
Atwal, P. S.,
Jain, M.,
Hammers, A.,
Charles-Edwards, G.,
Choe, C. U.,
Isbrandt, D.,
Cebrian-Serrano, A.,
Davies, B.,
Sandford, R. N.,
Pugh, C.,
Konecki, D. S.,
Povey, S.,
Bockenhauer, D.,
Lichter-Konecki, U.,
Gahl, W. A.,
Unwin, R. J.,
Warth, Richard und
Kleta, R.
(2018)
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
J. Am. Soc. Nephrol. 29 (7), S. 1849-1858.
Volltext nicht vorhanden.
Schlingmann, Karl P.,
Bandulik, Sascha,
Mammen, Cherry,
Tarailo-Graovac, Maja ,
Holm, Rikke,
Baumann, Matthias,
König, Jens,
Lee, Jessica J. Y.,
Drögemöller, Britt ,
Imminger, Katrin,
Beck, Bodo B.,
Altmüller, Janine,
Thiele, Holger,
Waldegger, Siegfried,
van’t Hoff, William,
Kleta, Robert,
Warth, Richard ,
van Karnebeek, Clara D. M.,
Vilsen, Bente ,
Bockenhauer, Detlef und
Konrad, Martin
(2018)
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
The American Journal of Human Genetics 103 (5), S. 808-816.
Volltext nicht vorhanden.
Reichold, Markus,
Klootwijk, Enriko D.,
Reinders, Joerg,
Otto, Edgar A.,
Milani, Mario ,
Broeker, Carsten,
Laing, Chris,
Wiesner, Julia,
Devi, Sulochana,
Zhou, Weibin,
Schmitt, Roland,
Tegtmeier, Ines,
Sterner, Christina,
Doellerer, Hannes,
Renner, Kathrin,
Oefner, Peter J.,
Dettmer, Katja,
Simbuerger, Johann M.,
Witzgall, Ralph,
Stanescu, Horia C.,
Dumitriu, Simona,
Iancu, Daniela,
Patel, Vaksha,
Mozere, Monika,
Tekman, Mehmet ,
Jaureguiberry, Graciana,
Issler, Naomi,
Kesselheim, Anne,
Walsh, Stephen B.,
Gale, Daniel P. ,
Howie, Alexander J.,
Martins, Joana R. ,
Hall, Andrew M.,
Kasgharian, Michael,
O’Brien, Kevin,
Ferreira, Carlos R.,
Atwal, Paldeep S.,
Jain, Mahim,
Hammers, Alexander ,
Charles-Edwards, Geoffrey,
Choe, Chi-Un,
Isbrandt, Dirk,
Cebrian-Serrano, Alberto,
Davies, Ben,
Sandford, Richard N.,
Pugh, Christopher,
Konecki, David S.,
Povey, Sue,
Bockenhauer, Detlef,
Lichter-Konecki, Uta,
Gahl, William A.,
Unwin, Robert J.,
Warth, Richard und
Kleta, Robert
(2018)
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Journal of the American Society of Nephrology 29 (7), S. 1849-1858.
Volltext nicht vorhanden.
2017
Buehler, Philipp K.,
Bleiler, Doris,
Tegtmeier, Ines,
Heitzmann, Dirk,
Both, Christian,
Georgieff, Michael,
Lesage, Florian ,
Warth, Richard und
Thomas, Jörg
(2017)
Abnormal respiration under hyperoxia in TASK-1/3 potassium channel double knockout mice.
Respiratory Physiology & Neurobiology 244, S. 17-25.
Volltext nicht vorhanden.
Jungbauer, Stefan,
Buehler, Philipp Karl ,
Neubauer, Jacqueline ,
Haas, Cordula ,
Heitzmann, Dirk,
Tegtmeier, Ines,
Sterner, Christina,
Barhanin, Jacques,
Georgieff, Michael,
Warth, Richard und
Thomas, Jörg
(2017)
Sex-dependent differences in the in vivo respiratory phenotype of the TASK-1 potassium channel knockout mouse.
Respiratory Physiology & Neurobiology 245, S. 13-28.
Volltext nicht vorhanden.
2016
Heitzmann, Dirk,
Buehler, Philipp ,
Schweda, Frank,
Georgieff, Michael,
Warth, Richard und
Thomas, Joerg
(2016)
The in vivo respiratory phenotype of the adenosine A1 receptor knockout mouse.
Respiratory Physiology & Neurobiology 222, S. 16-28.
Volltext nicht vorhanden.
2014
Klootwijk, Enriko D.,
Reichold, Markus,
Helip-Wooley, Amanda,
Tolaymat, Asad,
Broeker, Carsten,
Robinette, Steven,
Reinders, Jörg,
Peindl, Dominika Elisabeth,
Renner, Kathrin,
Eberhart, Karin,
Aßmann, Nadine,
Oefner, Peter J.,
Dettmer, Katja,
Sterner, Christina,
Schroeder, Josef,
Zorger, Niels,
Witzgall, Ralph,
Reinhold, Stephan W.,
Stanescu, Horia C.,
Bockenhauer, Detlef,
Jaureguiberry, Gracian,
Courtneidge, Holly,
Hall, Andrew M.,
Wijeyesekera, Anisha,
Holmes, Elaine,
Nicholson, Jeremy K.,
O'Brien, Kevin,
Bernardini, Isa,
Krasnewich, Donna M.,
Arcos-Burgos, Mauricio,
Izumi, Yuichiro,
Nonoguchi, Hiroshi,
Jia, Yuzhi,
Reddy, Janardan K.,
Ilya, Mohammad,
Unwin, Robert J.,
Gahl, William A.,
Warth, Richard und
Kleta, Robert
(2014)
Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome.
The New England Journal of Medicine 370, S. 129-138.
Volltext nicht vorhanden.
2013
Burghardt, Tillmann,
Kastner, Jürgen,
Suleiman, Hani,
Rivera-Milla, Eric,
Stepanova, Natalya,
Lottaz, Claudio,
Kubitza, Marion,
Böger, Carsten A.,
Schmidt, Sarah,
Gorski, Mathias,
de Vries, Uwe,
Schmidt, Helga,
Hertting, Irmgard,
Kopp, Jeffrey,
Rascle, Anne,
Moser, Markus,
Heid, Iris M.,
Warth, Richard,
Spang, Rainer,
Wegener, Joachim,
Mierke, Claudia T.,
Englert, Christoph und
Witzgall, Ralph
(2013)
LMX1B is essential for the maintenance of differentiated podocytes in adult kidneys.
Journal of the American Society of Nephrology : JASN 24 (11), S. 1830-1848.
Volltext nicht vorhanden.
Schmidt, Katharina,
Ripper, Maria,
Tegtmeier, Ines,
Humberg, Evelyn,
Sterner, Christina,
Reichold, Markus,
Warth, Richard und
Bandulik, Sascha
(2013)
Dynamics of Renal Electrolyte Excretion in Growing Mice.
Nephron Physiology 124, S. 7-13.
2007
Kurtz, Lisa,
Schweda, Frank,
de Wit, Cor,
Kriz, Wilhelm,
Witzgall, Ralph,
Warth, Richard,
Sauter, Alexander,
Kurtz, Armin und
Wagner, Charlotte
(2007)
Lack of connexin 40 causes displacement of renin-producing cells from afferent arterioles to the extraglomerular mesangium.
Journal of the American Society of Nephrology : JASN 18 (4), S. 1103-11.
Zugang zum Volltext eingeschränkt.
Diese Liste wurde erzeugt am Thu Mar 28 20:10:14 2024 CET.