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收藏分享 收藏 Somatic Mutations in MCOLN3 Are Associated With Aldosterone-Producing AdenomasMCOLN3中的体细胞突变与醛固酮分泌腺瘤相关
van Rooyen, Desmare; Bandulik, Sascha; Coon, Grace A.; Laukemper, Miriam; Kumar-Sinha, Chandan; Udager, Aaron M.; Lerario, Antonio M.; Lee, Chaelin; Wachtel, Heather; Cohen, Debbie L.; Luther, James M.; Giordano, Thomas J.; Scholl, Ute I.; Butz, Frederike; Popp, Bernt; Turcu, Adina F.; Warth, Richard; Rainey, William E.; Rege, Juilee 分享 收藏 Somatic SLC30A1 mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronismRege, Juilee; Bandulik, Sascha; Nanba, Kazutaka; Kosmann, Carla; Blinder, Amy R.; Plain, Allein; Vats, Pankaj; Kumar-Sinha, Chandan; Lerario, Antonio M.; Else, Tobias; Yamazaki, Yuto; Satoh, Fumitoshi; Sasano, Hironobu; Giordano, Thomas J.; Williams, Tracy Ann; Reincke, Martin; Turcu, Adina F.; Udager, Aaron M.; Warth, Richard; Rainey, William E. 分享 收藏 A Founder Mutation in EHD1 Presents with Tubular Proteinuria and DeafnessIssler, Naomi; Afonso, Sara; Weissman, Irith; Jordan, Katrin; Cebrian-Serrano, Alberto; Meindl, Katrin; Dahlke, Eileen; Tziridis, Konstantin; Yan, Guanhua; Robles-Lopez, Jose 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; Biton, Efrat Shuster; Kalfon, Limor; Fedida, Ayalla; Arnon-Sheleg, Elite; Ben Izhak, Ofer; Magen, Daniella; Anikster, Yair; Schulze, Holger; Ziegler, Christine; Lowe, Martin; Davies, Benjamin; Boeckenhauer, Detlef; Kleta, Robert; Zaccai, Tzipora C. Falik; Warth, Richard 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural DeafnessSchlingmann, 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-Rouviere, 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.; Konrad, Martin 分享 收藏 分享 收藏 分享 收藏 Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual DisabilitySchlingmann, Karl P.; Bandulik, Sascha; Mammen, Cherry; Tarailo-Graovac, Maja; Holm, Rikke; Baumann, Matthias; Koenig, Jens; Lee, Jessica J. Y.; Drogemoller, Britt; Imminger, Katrin; Beck, Bodo B.; Altmueller, Janine; Thiele, Holger; Waldegger, Siegfried; van't Hoff, William; Kleta, Robert; Warth, Richard; van Karnebeek, Clara D. M.; Vilsen, Bente; Bockenhauer, Detlef; Konrad, Martin 分享 收藏 Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney FailureReichold, 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; Kleta, Robert 分享 收藏 分享 收藏 分享 收藏 分享 收藏 A Novel KCNJ5-insT149 Somatic Mutation Close to, but Outside, the Selectivity Filter Causes Resistant Hypertension by Loss of Selectivity for PotassiumKuppusamy, Maniselvan; Caroccia, Brasilina; Stindl, Julia; Bandulik, Sascha; Lenzini, Livia; Gioco, Francesca; Fishman, Veniamin; Zanotti, Giuseppe; Gomez-Sanchez, Celso; Bader, Michael; Warth, Richard; Rossi, Gian Paolo 分享 收藏 Diastrophic Dysplasia Sulfate Transporter (SLC26A2) Is Expressed in the Adrenal Cortex and Regulates Aldosterone SecretionSpyroglou, Ariadni; Bozoglu, Tarik; Rawal, Rajesh; De Leonardis, Fabio; Sterner, Christina; Boulkroun, Sheerazed; Benecke, Arndt G.; Monti, Luca; Zennaro, Maria-Christina; Petersen, Ann-Kristin; Doering, Angela; Rossi, Antonio; Bidlingmaier, Martin; Warth, Richard; Gieger, Christian; Reincke, Martin; Beuschlein, Felix 分享 收藏 Pharmacology and Pathophysiology of Mutated KCNJ5 Found in Adrenal Aldosterone-Producing Adenomas肾上腺醛固酮腺瘤中发现的突变KCNJ5的药理学和病理生理学Tauber, P.; Penton, D.; Stindl, J.; Humberg, E.; Tegtmeier, I.; Sterner, C.; Beuschlein, F.; Reincke, M.; Barhanin, J.; Bandulik, S.; Warth, R. 分享 收藏 Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome过氧化物酶体EHHADH的错误定位和遗传性肾Fanconi综合征Klootwijk, Enriko D.; Reichold, Markus; Helip-Wooley, Amanda; Tolaymat, Asad; Broeker, Carsten; Robinette, Steven L.; Reinders, Joerg; Peindl, Dominika; 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, Graciana; Courtneidge, Holly; Hall, Andrew M.; Wijeyesekera, Anisha D.; 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.; Ilyas, Mohammad; Unwin, Robert J.; Gahl, William A.; Warth, Richard; Kleta, Robert 分享 收藏 
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