This study shows that ClC-2 chloride channels in adrenal zona glomerulosa cells mediate hypoosmotic stress responses by enabling chloride efflux, depolarization, and calcium influx, which drive aldosterone production.

Acta Physiologica · Jan 28, 2026Peer-reviewedPhysiology

Expression and Function of Connexin 43 and Connexin 37 in the Murine Zona Glomerulosa

Gabriel Stölting, Nicole Hellmig, Hoang An Dinh, Frederike Butz, Kerim Secener, Marina Volkert, Ute I. Scholl

The paper examines connexin 43 and 37 expression and function in murine zona glomerulosa, finding that while these proteins are expressed, functional gap junctions are rare and do not significantly affect calcium signaling.

Physiological Reports · Jan 29, 2025Peer-reviewedPhysiology

Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels

Henrike Heyne, David Báez-Nieto, Sumaiya Iqbal, Duncan S. Palmer, Andreas Brunklaus, Patrick May, Epi25 Collaborative, Katrine M. Johannesen, Stephan Lauxmann, Johannes R. Lemke, Rikke Steensbjerre Møller, Eduardo Pérez‐Palma, Ute I. Scholl, Steffen Syrbe, Holger Lerche, , Mark J. Daly

The paper predicts functional effects of missense variants in voltage-gated sodium and calcium channels using machine learning, achieving high accuracy in distinguishing gain and loss of function variants.

Science Translational Medicine · Aug 12, 2020Peer-reviewedGenetics

VarFish - Collaborative and Comprehensive Variant Analysis for Diagnosis and Research

Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen, Stefan Mundlos, Alexej Knaus, Uwe Kornak, Dominik Seelow, Lara Segebrecht, Malte Spielmann, Björn Fischer‐Zirnsak, Felix Boschann, Ute I. Scholl, Nadja Ehmke, Dieter Beule

VarFish is a web application for variant analysis in rare disease genetics, offering quality control, filtering, annotation, and collaboration tools for diagnostic and research use.

bioRxiv · Jan 27, 2020 · PreprintBioinformatics