Anzahl der Einträge in dieser Kategorie: 50.
Artikel
Meindl, Katrin ![ORCID 0000-0001-5252-7654](/images/orcid_16x16.gif)
,
Issler, Naomi,
Afonso, Sara Cerqueira,
Cebrian-Serrano, Alberto,
Müller-Decker, Karin,
Sterner, Christina,
Othmen, Helga,
Tegtmeier, Ines,
Witzgall, Ralph ![ORCID 0000-0002-5283-4846](/images/orcid_16x16.gif)
,
Klootwijk, Enriko D.,
Davies, Benjamin,
Kleta, Robert und
Warth, Richard ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
(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 ![ORCID 0000-0001-8867-455X](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0003-1613-2000](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
(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 ![ORCID 0000-0001-8867-455X](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0003-1613-2000](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
(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 ![ORCID 0000-0002-9472-7803](/images/orcid_16x16.gif)
,
Forst, Anna-Lena,
Warth, Richard ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
,
Both, Christian Peter,
Haas, Cordula ![ORCID 0000-0001-8122-1427](/images/orcid_16x16.gif)
und
Thomas, Jörg ![ORCID 0000-0001-8452-356X](/images/orcid_16x16.gif)
(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.
Schöller, Eva,
Marks, James,
Marchand, Virginie ![ORCID 0000-0002-8537-1139](/images/orcid_16x16.gif)
,
Bruckmann, Astrid,
Powell, Christopher A.,
Reichold, Markus,
Mutti, Christian Daniel ![ORCID 0000-0001-5091-5055](/images/orcid_16x16.gif)
,
Dettmer, Katja ![ORCID 0000-0001-7337-2380](/images/orcid_16x16.gif)
,
Feederle, Regina ![ORCID 0000-0002-3981-367X](/images/orcid_16x16.gif)
,
Hüttelmaier, Stefan,
Helm, Mark,
Oefner, Peter J.,
Minczuk, Michal ![ORCID 0000-0001-8242-1420](/images/orcid_16x16.gif)
,
Motorin, Yuri ![ORCID 0000-0001-9622-4591](/images/orcid_16x16.gif)
,
Hafner, Markus und
Meister, Gunter
(2021)
Balancing of mitochondrial translation through METTL8-mediated m3C modification of mitochondrial tRNAs.
Molecular Cell 81 (23), 4810-4825.e12.
Volltext nicht vorhanden.
Schlingmann, Karl P.,
Renigunta, Aparna,
Hoorn, Ewout J.,
Forst, Anna-Lena,
Renigunta, Vijay,
Atanasov, Velko,
Mahendran, Sinthura,
Barakat, Tahsin Stefan ![ORCID 0000-0003-1231-1562](/images/orcid_16x16.gif)
,
Gillion, Valentine,
Godefroid, Nathalie,
Brooks, Alice S.,
Lugtenberg, Dorien,
Lake, Jennifer ![ORCID 0000-0002-9617-7438](/images/orcid_16x16.gif)
,
Debaix, Huguette,
Rudin, Christoph,
Knebelmann, Bertrand,
Tellier, Stephanie,
Rousset-Rouvière, Caroline,
Viering, Daan,
de Baaij, Jeroen H. F. ![ORCID 0000-0003-2372-8486](/images/orcid_16x16.gif)
,
Weber, Stefanie,
Palygin, Oleg ![ORCID 0000-0002-3680-5527](/images/orcid_16x16.gif)
,
Staruschenko, Alexander,
Kleta, Robert,
Houillier, Pascal,
Bockenhauer, Detlef,
Devuyst, Olivier,
Vargas-Poussou, Rosa,
Warth, Richard ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
,
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.
Gürtler, Florian,
Jordan, Katrin,
Tegtmeier, Ines,
Herold, Janina ![ORCID 0000-0002-2208-9742](/images/orcid_16x16.gif)
,
Stindl, Julia,
Warth, Richard ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
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 ![ORCID 0000-0002-9415-6588](/images/orcid_16x16.gif)
(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 ![ORCID 0000-0002-7985-592X](/images/orcid_16x16.gif)
,
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.
Reichold, M.,
Klootwijk, E. D.,
Reinders, Jörg ![ORCID 0000-0003-1025-7849](/images/orcid_16x16.gif)
,
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. ![ORCID 0000-0002-1499-3977](/images/orcid_16x16.gif)
,
Dettmer, Katja ![ORCID 0000-0001-7337-2380](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
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.
Reichold, Markus,
Klootwijk, Enriko D.,
Reinders, Joerg,
Otto, Edgar A.,
Milani, Mario ![ORCID 0000-0001-6098-3991](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0002-4181-2676](/images/orcid_16x16.gif)
,
Jaureguiberry, Graciana,
Issler, Naomi,
Kesselheim, Anne,
Walsh, Stephen B.,
Gale, Daniel P. ![ORCID 0000-0002-9170-1579](/images/orcid_16x16.gif)
,
Howie, Alexander J.,
Martins, Joana R. ![ORCID 0000-0002-3784-9775](/images/orcid_16x16.gif)
,
Hall, Andrew M.,
Kasgharian, Michael,
O’Brien, Kevin,
Ferreira, Carlos R.,
Atwal, Paldeep S.,
Jain, Mahim,
Hammers, Alexander ![ORCID 0000-0001-9530-4848](/images/orcid_16x16.gif)
,
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 ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
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.
Buehler, Philipp K.,
Bleiler, Doris,
Tegtmeier, Ines,
Heitzmann, Dirk,
Both, Christian,
Georgieff, Michael,
Lesage, Florian ![ORCID 0000-0002-4406-7106](/images/orcid_16x16.gif)
,
Warth, Richard ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
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 ![ORCID 0000-0003-4690-9896](/images/orcid_16x16.gif)
,
Neubauer, Jacqueline ![ORCID 0000-0002-9472-7803](/images/orcid_16x16.gif)
,
Haas, Cordula ![ORCID 0000-0001-8122-1427](/images/orcid_16x16.gif)
,
Heitzmann, Dirk,
Tegtmeier, Ines,
Sterner, Christina,
Barhanin, Jacques,
Georgieff, Michael,
Warth, Richard ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
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.
Assmann, Nadine,
Dettmer, Katja ![ORCID 0000-0001-7337-2380](/images/orcid_16x16.gif)
,
Simbürger, Johann,
Broeker, Carsten,
Nuernberger, Nadine,
Renner, Kathrin,
Courtneidge, H.,
Klootwijk, E. D.,
Duerkop, Axel ![ORCID 0000-0003-3007-6471](/images/orcid_16x16.gif)
,
Hall, A.,
Kleta, R.,
Oefner, Peter J. ![ORCID 0000-0002-1499-3977](/images/orcid_16x16.gif)
,
Reichold, Markus und
Reinders, Jörg
(2016)
Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.
Cell Reports (Cell Rep) 15 (7), S. 1423-1429.
Heitzmann, Dirk,
Buehler, Philipp ![ORCID 0000-0003-4690-9896](/images/orcid_16x16.gif)
,
Schweda, Frank,
Georgieff, Michael,
Warth, Richard ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
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.
Schmidt, Katharina,
Ripper, Maria,
Tegtmeier, Ines,
Humberg, Evelyn,
Sterner, Christina,
Reichold, Markus,
Warth, Richard ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
und
Bandulik, Sascha
(2013)
Dynamics of Renal Electrolyte Excretion in Growing Mice.
Nephron Physiology 124, S. 7-13.
Hochschulschrift der Universität Regensburg
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