Number of items at this level: 50.
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 and
Warth, Richard
(2023)
A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility.
Frontiers in Cell and Developmental Biology 11.
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. and
Warth, Richard
(2022)
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Journal of the American Society of Nephrology 33 (4), pp. 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. and
Warth, Richard
(2022)
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Journal of the American Society of Nephrology 33.
Fulltext not available.
Neubauer, Jacqueline ,
Forst, Anna-Lena,
Warth, Richard ,
Both, Christian Peter,
Haas, Cordula and
Thomas, Jörg
(2022)
Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome.
Pediatric Research 92 (4), pp. 1026-1033.
Fulltext not available.
Schöller, Eva,
Marks, James,
Marchand, Virginie ,
Bruckmann, Astrid,
Powell, Christopher A.,
Reichold, Markus,
Mutti, Christian Daniel ,
Dettmer, Katja ,
Feederle, Regina ,
Hüttelmaier, Stefan,
Helm, Mark,
Oefner, Peter J.,
Minczuk, Michal ,
Motorin, Yuri ,
Hafner, Markus and
Meister, Gunter
(2021)
Balancing of mitochondrial translation through METTL8-mediated m3C modification of mitochondrial tRNAs.
Molecular Cell 81 (23), 4810-4825.e12.
Fulltext not available.
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. and
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), pp. 1498-1512.
Fulltext not available.
Gürtler, Florian,
Jordan, Katrin,
Tegtmeier, Ines,
Herold, Janina ,
Stindl, Julia,
Warth, Richard and
Bandulik, Sascha
(2020)
Cellular Pathophysiology of Mutant Voltage-Dependent Ca2+ Channel CACNA1H in Primary Aldosteronism.
Endocrinology 161 (10).
Fulltext not available.
Penton, David,
Vohra, Twinkle,
Banki, Eszter,
Wengi, Agnieszka,
Weigert, Maria,
Forst, Anna-Lena,
Bandulik, Sascha,
Warth, Richard and
Loffing, Johannes
(2020)
Collecting system–specific deletion of Kcnj10 predisposes for thiazide- and low-potassium diet–induced hypokalemia.
Kidney International 97 (6), pp. 1208-1218.
Fulltext not available.
Morin, Matias ,
Forst, Anna-Lena,
Pérez-Torre, Paula,
Jiménez-Escrig, Adriano,
Barca-Tierno, Verónica,
García-Galloway, Eva,
Warth, Richard,
Lopez-Sendón Moreno, Jose Luis and
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), pp. 135-143.
Fulltext not available.
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 and
Kleta, R.
(2018)
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
J. Am. Soc. Nephrol. 29 (7), pp. 1849-1858.
Fulltext not available.
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 and
Kleta, Robert
(2018)
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Journal of the American Society of Nephrology 29 (7), pp. 1849-1858.
Fulltext not available.
Buehler, Philipp K.,
Bleiler, Doris,
Tegtmeier, Ines,
Heitzmann, Dirk,
Both, Christian,
Georgieff, Michael,
Lesage, Florian ,
Warth, Richard and
Thomas, Jörg
(2017)
Abnormal respiration under hyperoxia in TASK-1/3 potassium channel double knockout mice.
Respiratory Physiology & Neurobiology 244, pp. 17-25.
Fulltext not available.
Jungbauer, Stefan,
Buehler, Philipp Karl ,
Neubauer, Jacqueline ,
Haas, Cordula ,
Heitzmann, Dirk,
Tegtmeier, Ines,
Sterner, Christina,
Barhanin, Jacques,
Georgieff, Michael,
Warth, Richard and
Thomas, Jörg
(2017)
Sex-dependent differences in the in vivo respiratory phenotype of the TASK-1 potassium channel knockout mouse.
Respiratory Physiology & Neurobiology 245, pp. 13-28.
Fulltext not available.
Assmann, Nadine,
Dettmer, Katja ,
Simbürger, Johann,
Broeker, Carsten,
Nuernberger, Nadine,
Renner, Kathrin,
Courtneidge, H.,
Klootwijk, E. D.,
Duerkop, Axel ,
Hall, A.,
Kleta, R.,
Oefner, Peter J. ,
Reichold, Markus and
Reinders, Jörg
(2016)
Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.
Cell Reports (Cell Rep) 15 (7), pp. 1423-1429.
Heitzmann, Dirk,
Buehler, Philipp ,
Schweda, Frank,
Georgieff, Michael,
Warth, Richard and
Thomas, Joerg
(2016)
The in vivo respiratory phenotype of the adenosine A1 receptor knockout mouse.
Respiratory Physiology & Neurobiology 222, pp. 16-28.
Fulltext not available.
Schmidt, Katharina,
Ripper, Maria,
Tegtmeier, Ines,
Humberg, Evelyn,
Sterner, Christina,
Reichold, Markus,
Warth, Richard and
Bandulik, Sascha
(2013)
Dynamics of Renal Electrolyte Excretion in Growing Mice.
Nephron Physiology 124, pp. 7-13.
This list was generated on Sat Sep 7 08:58:35 2024 CEST.