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

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

A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical salt bridge Kir3.4 residue

一例由影响关键盐桥 Kir3.4 残基的新生突变引起的严重醛固酮增多症病例

Monticone, Silvia; Bandulik, Sascha; Stindl, Julia; Zilbermint, Mihail; Dedov, Ivan; Mulatero, Paolo; Allgaeuer, Michael; Lee, Chyi-Chia Richard; Stratakis, Constantine A; Williams, Tracy A; Tiulpakov, Anatoly

Two-pore domain potassium channels in the adrenal cortex

肾上腺皮质中的双孔域钾通道

Bandulik, Sascha; Tauber, Philipp; Lalli, Enzo; Barhanin, Jacques; Warth, Richard

A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium

一种位于选择性过滤器附近但又在其外部的新型KCNJ5-insT149体细胞突变,由于钾选择性丧失,导致难治性高血压。

Kuppusamy, 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

Task2 potassium channels set central respiratory CO2 and O2 sensitivity

任务2:钾通道决定中枢呼吸系统对二氧化碳和氧气的敏感性

Gestreau, Christian; Heitzmann, Dirk; Thomas, Joerg; Dubreuil, Véronique; Bandulik, Sascha; Reichold, Markus; Bendahhou, Saïd; Pierson, Patricia; Sterner, Christina; Peyronnet-Roux, Julie; Benfriha, Chérif; Tegtmeier, Ines; Ehnes, Hannah; Georgieff, Michael; Lesage, Florian; Brunet, Jean-Francois; Goridis, Christo; Warth, Richard; Barhanin, Jacques

Invalidation of TASK1 potassium channels disrupts adrenal gland zonation and mineralocorticoid homeostasis

TASK1钾通道的失活会破坏肾上腺分区和盐皮质激素稳态。

Heitzmann, Dirk; Derand, Renaud; Jungbauer, Stefan; Bandulik, Sascha; Sterner, Christina; Schweda, Frank; El Wakil, Abeer; Lalli, Enzo; Guy, Nicolas; Mengual, Raymond; Reichold, Markus; Tegtmeier, Ines; Bendahhou, Saïd; Gomez-Sanchez, Celso E; Aller, M Isabel; Wisden, William; Weber, Achim; Lesage, Florian; Warth, Richard; Barhanin, Jacques