Publikationen

2024

Plain A, Kn?dl L, Tegtmeier I, Bandulik S, Warth R.
The ex vivo perfused mouse adrenal gland - a new model to study aldosterone secretion.
Pflugers Arch. 2024; online first.
https://doi.org/10.1007/s00424-024-02950-z
Video zur Methode: http://doi.org/10.5283/epub.57910
Pubmed

????????????????????

2023

Rege J, Bandulik S, Nanba K, Kosmann C, Blinder AR, Plain A, Vats P, Kumar-Sinha C, Lerario AM, Else T, Yamazaki Y, Satoh F, Sasano H, Giordano TJ, Williams TA, Reincke M, Turcu AF, Udager AM, Warth R, Rainey WE.
Somatic SLC30A1 mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronism.
Nat Genet. 2023 Sep 14. doi: 10.1038/s41588-023-01498-5. Epub ahead of print.
Pubmed

Stanzick KJ, Stark KJ, Gorski M, Sch?del J, Krüger R, Kronenberg F, Warth R, Heid IM, Winkler TW.
KidneyGPS: a user-friendly web application to help prioritize kidney function genes and variants based on evidence from genome-wide association studies.
BMC Bioinformatics. 2023 Sep 21;24(1):355. doi: 10.1186/s12859-023-05472-0.
Pubmed

Meindl K, Issler N, Afonso S, Cebrian-Serrano A, Müller K, Sterner C, Othmen H, Tegtmeier I, Witzgall R, Klootwijk E, Davies B, Kleta R, Warth R.
A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility.
Front Cell Dev Biol. 2023 Oct 12;11:1240558. doi: 10.3389/fcell.2023.1240558.
Pubmed

Beggs MR, Young K, Plain A, O'Neill DD, Raza A, Flockerzi V, Dimke H, Alexander RT.
Maternal Epidermal Growth Factor Promotes Neonatal Claudin-2 Dependent Increases in Small Intestinal Calcium Permeability.
Function (Oxf). 2023 Jun 27;4(5):zqad033. doi: 10.1093/function/zqad033.
Pubmed

???

2022

Lo J, Forst AL, Warth R, Zdebik AA.
EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.
Front Physiol. 2022 Mar 15;13:852674. doi: 10.3389/fphys.2022.852674.
Pubmed

Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, B?ckenhauer D, Kleta R, Falik Zaccai TC, Warth R.
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
J Am Soc Nephrol. 2022, 33(4):732-745. doi: 10.1681/ASN.2021101312.
Pubmed
Editorial

Neubauer J, Forst AL, Warth R, Both CP, Haas C, Thomas J.
Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome.
Pediatr Res. 2022 Feb 1. doi: 10.1038/s41390-021-01899-4.
Pubmed

??

2021

Sch?ller E, Marks J, Marchand V, Bruckmann A, Powell CA, Reichold M, Mutti CD, Dettmer K, Feederle R, Hüttelmaier S, Helm M, Oefner P, Minczuk M, Motorin Y, Hafner M, Meister G.
Balancing of mitochondrial translation through METTL8-mediated m3C modification of mitochondrial tRNAs.
Mol Cell. 2021 Dec 2;81(23):4810-4825.
Pubmed

Forst AL, Reichold M, Kleta R, Warth R.
Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM.
Front Physiol. 2021 Jul 19;12:715485.
Pubmed

Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V, Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier S, Rousset-Rouvière C, Viering D, deBaaij JHF, Weber S, Palygin O, Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O, Vargas-Poussou R, Warth R, Zdebik AA, Konrad M.
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
J Am Soc Nephrol. 2021,?32(6):1498-1512. doi: 10.1681/ASN.2020111587
Pubmed

Beggs MR, Young K, Pan W, O'Neill DD, Saurette M, Plain A, Rievaj J, Doschak MR, Cordat E, Dimke H, Alexander RT.
Claudin-2 and claudin-12 form independent, complementary pores required to maintain calcium homeostasis.
Proc Natl Acad Sci U S A. 2021 Nov 30;118(48):e2111247118. doi: 10.1073/pnas.2111247118.
Pubmed

????

2020

Gürtler F, Jordan K, Tegtmeier I, Herold J, Stindl J, Warth R, Bandulik S
Cellular pathophysiology of mutant voltage-dependent Ca2+ channel CACNA1H in primary aldosteronism
Endocrinology. 2020 Oct 1;161(10):bqaa135. doi: 10.1210/endocr/bqaa135.
Pubmed

Morin M, Forst AL, Pérez-Torre P, Jiménez-Escrig A, Barca-Tierno V, García-Galloway E, Warth R, Lopez-Sendón Moreno JL, Moreno-Pelayo MA
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
Neurogenetics. 2020 Apr;21(2):135-143, doi: 10.1007/s10048-020-00605-6.
Pubmed

Penton D, Vohra T, Banki E, Wengi A, Weigert M, Forst AL, Bandulik S, Warth R, Loffing J.
Collecting system-specific deletion of Kcnj10 predisposes for thiazide- and low-potassium diet-induced hypokalemia.
Kidney Int. 2020 Jun;97(6):1208-1218, doi: 10.1016/j.kint.2019.12.016.
Pubmed

Plain A, Pan W, O'Neill D, Ure M, Beggs MR, Farhan M, Dimke H, Cordat E, Alexander RT.
Claudin-12 Knockout Mice Demonstrate Reduced Proximal Tubule Calcium Permeability.
Int J Mol Sci. 2020 Mar 18;21(6):2074. doi: 10.3390/ijms21062074.
Pubmed

?????????

2019

Bandulik S, Barhanin J, Warth R.
Potassium channels in adrenocortical cells.
Current Opinion in Endocrine and Me