日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Inhibition of (interstitial) P2Y(6) receptors attenuates fibrosis progression

抑制(间质)P2Y(6)受体可减缓纤维化进展

Süß, Lena Marie; Petzendorfer, Anna; Tran, Minh Linh; Firmke, Bettina; Süß, Anja; Warth, Richard; Broeker, Katharina Anna-Elisabeth; Forst, Anna-Lena

Inhibition of (interstitial) P2Y(6) receptors attenuates renal fibrosis progression.

抑制(间质)P2Y(6)受体可减轻肾纤维化的进展。

Süß Lena Marie, Petzendorfer Anna, Firmke Bettina, Süß Anja, Warth Richard, Broeker Katharina Anna-Elisabeth, Forst Anna-Lena

Somatic Mutations in MCOLN3 Are Associated With Aldosterone-Producing Adenomas

MCOLN3基因的体细胞突变与醛固酮瘤相关

van Rooyen, Desmaré; 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

Somatic SLC30A1 mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronism.

体细胞 SLC30A1 突变改变锌转运蛋白 ZnT1 导致醛固酮生成腺瘤和原发性醛固酮增多症

Rege 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

KidneyGPS: a user-friendly web application to help prioritize kidney function genes and variants based on evidence from genome-wide association studies

KidneyGPS:一款用户友好的网络应用程序,可根据全基因组关联研究的证据,帮助确定肾功能基因和变异的优先级。

Stanzick, Kira J; Stark, Klaus J; Gorski, Mathias; Schödel, Johannes; Krüger, René; Kronenberg, Florian; Warth, Richard; Heid, Iris M; Winkler, Thomas W

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness

EHD1基因的创始突变表现为肾小管蛋白尿和耳聋

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; Warth, Richard

EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies

EAST/SeSAME综合征及其他:Kir4.1和Kir5.1相关离子通道病谱

Lo, Jacky; Forst, Anna-Lena; Warth, Richard; Zdebik, Anselm A

Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome

婴儿猝死综合征中11个中枢和外周化学感受器基因的遗传变异

Neubauer, Jacqueline; Forst, Anna-Lena; Warth, Richard; Both, Christian Peter; Haas, Cordula; Thomas, Jörg

Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM

近端小管酶 EHHADH 和 GATM 突变引起的不同线粒体病变

Forst, Anna-Lena; Reichold, Markus; Kleta, Robert; Warth, Richard

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

甘氨酸脒基转移酶(GATM)、肾性范可尼综合征和肾衰竭

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; Kleta, Robert