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Complementary computational and experimental evaluation of missense variants in the ROMK potassium channel

Luca Ponzoni, Nga H. Nguyen, Ivet Bahar, Jeffrey L. Brodsky, Bert L. de Groot
2020 PLoS Computational Biology  
The renal outer medullary potassium (ROMK) channel is essential for potassium transport in the kidney, and its dysfunction is associated with a salt-wasting disorder known as Bartter syndrome.  ...  Experimental tests performed for selected mutants in different classes validated the vast majority of our predictions and provided insights into variants implicated in ROMK dysfunction.  ...  Acknowledgments We thank Jen Goeckler-Fried, Tim Mackie, Sara Sannino, and Wes Bowman for reagents and/ or experimental advice. Author Contributions  ... 
doi:10.1371/journal.pcbi.1007749 pmid:32251469 fatcat:i7fwrudt65hkzfopgtlzbql6bq

Advances in Blood Pressure Genomics

P. B. Munroe, M. R. Barnes, M. J. Caulfield
2013 Circulation Research  
It is timely to reflect on recent advances in genomics, and the use of new resources, such as the 1000 Genomes Project and the Encyclopedia of DNA Elements, to annotate likely causal variants, and their  ...  In aggregate, these common variants explain <3% of the variance of blood pressure.  ...  We thank the Bioinformatics Group at Barts and The London Genome Center. Sources of Funding Disclosures None.  ... 
doi:10.1161/circresaha.112.300387 pmid:23661711 fatcat:wzeovigwobeypn6us4ltdszyny

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning [article]

Willow Coyote-Maestas, David Nedrud, Yungui He, Daniel Schmidt
2022 bioRxiv   pre-print
Here, we introduce 7,429 single residue missense mutation into the Inward Rectifier K+ channel Kir2.1 and determine how this affects folding, assembly, and trafficking, as well as regulation by allosteric  ...  By comparing fitness scores with expert-reviewed variant effects, we can predict the pathogenicity of variants of unknown significance and disease mechanisms of know pathogenic mutations.  ...  Acknowledgement We are grateful for helpful discussions with Anna Gloyn, James Fraser, Gabbriella Estevam, Eric Greene, the DMS crew, and the rest of the Fraser lab.  ... 
doi:10.1101/2022.01.06.475280 fatcat:vbxnz427zjbcfoagolixv3mo6m

Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes

Claude Szpirer
2020 Journal of Biomedical Science  
This article is an update of the progress made in this research and provides the reader with an inventory of these disease genes, a significant number of which have similar effects in rat and humans.  ...  the identification of novel human disease susceptibility genes, helping in studying the mechanisms underlying the pathological abnormalities and also suggesting new therapeutic approaches.  ...  voltage-gated channel, shaker-related subfamily, member 1, Kng2 Kininogen 2, Kcnj1 Potassium voltage-gated channel subfamily J member 1 (=Romk), Kcnj10 Potassium voltage-gated channel subfamily J member  ... 
doi:10.1186/s12929-020-00673-8 pmid:32741357 fatcat:vgtzyaelpnb7pbbcmqx6xfywhu

Hypertension, Kidney, and Transgenics: A Fresh Perspective

Linda J. Mullins, Matthew A. Bailey, John J. Mullins
2006 Physiological Reviews  
Efficient operating of this transporter (NKCC2) requires K ϩ to recycle across the apical membrane through a K ϩ channel (ROMK) and chloride to exit basolaterally through a chloride channel (CLCNKB; Fig  ...  TAL Mutations in the Na ϩ -K ϩ -2Cl Ϫ cotransporter, NKCC2, or any of the genes encoding ion channels required for its operation (ROMK, CLCNKB) cause Bartter's syndrome (see Fig. 8 ), characterized by  ... 
doi:10.1152/physrev.00016.2005 pmid:16601272 fatcat:mgncqlxfdfatdbncoa266cmoju

Towards Precision Medicine for Hypertension: A Review of Genomic, Epigenomic, and Microbiomic Effects on Blood Pressure in Experimental Rat Models and Humans

Sandosh Padmanabhan, Bina Joe
2017 Physiological Reviews  
Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans.  ...  Based on the chronological progression of research into the genetics of hypertension as the "structural backbone," this review catalogs and discusses the rat and human genetic elements mapped and implicated  ...  -ROMK channel, chloride channel Kb (ClC-Kb), Bartin, and calcium sensing receptor (CaSR) (341) .  ... 
doi:10.1152/physrev.00035.2016 pmid:28931564 pmcid:PMC6347103 fatcat:7e5tspd47jey5fh2q4ofxdvfgy

Intracellular cAMP Sensor EPAC: Physiology, Pathophysiology, and Therapeutics Development

William G. Robichaux, Xiaodong Cheng
2018 Physiological Reviews  
Although EPAC proteins are fairly new additions to the growing list of cAMP effectors, and relatively "young" in the cAMP discovery timeline, the significance of an EPAC presence in different cell systems  ...  This review comprehensively covers EPAC protein functions at the molecular, cellular, physiological, and pathophysiological levels; and in turn, the applications of employing EPAC-based biosensors as detection  ...  Furthermore, the kidney regulates K ϩ homeostasis by modulating the activity of K ϩ secretory channels, including the renal outer medullary potassium channel (ROMK), in the apical membrane of distal nephron  ... 
doi:10.1152/physrev.00025.2017 pmid:29537337 fatcat:2l6gw7vkprehxnszxg2dqni7ze

Rolle des antidiuretischen Hormons in der Regulation der renalen Na-(K)-Cl Transporter [article]

Kerim Mutig, Universitätsbibliothek Der FU Berlin, Universitätsbibliothek Der FU Berlin
2015
The publications presented in this thesis address critical issues in this field, namely the characterization of the cellular distribution of V2R along the nephron and the elucidation of the AVP-related  ...  Therefore, effects of AVP on NKCC2 and NCC were studied, and the molecular pathways involved in AVP signaling were characterized.  ...  Ellison (Portland, Oregon ACKNOWLEDGMENTS The authors thank Kerstin Riskowski, Petra Schrade, John Horn, Shaunessy Rogers, and Joshua Nelson for assistance and advice.  ... 
doi:10.17169/refubium-6378 fatcat:rksrh76na5btpmithbyqjmh3gi

Radiation vs Nuclear Size [chapter]

2008 Encyclopedia of Genetics, Genomics, Proteomics and Informatics  
ROMK: A potassium ion channel family member; it is encoded in human chromosome 11 and alternative splicing generates its isoforms.  ...  In the dark, the sodium ion channels are kept open by cGMP; in the light the channels are closed.  ...  The termination is rho independent in T7 and the end forms a stem-loop structure and a stretch of U bases.  ... 
doi:10.1007/978-1-4020-6754-9_14032 fatcat:sjsarml6jbh37bxjg25tyvucga

Functional analysis of Bicc1 and novel interacting proteins in renal tubule cell metabolism and polycystic kidneys

Lucía Carolina Leal Esteban
2017
Here, we found that Bicc1 is essential for normal expression of the gluconeogenic enzymes FBP1 and PEPCK specifically in kidneys, and to maintain euglycemia.  ...  Altered glucose and lipid metabolism also sustain cystic growth in polycystic kidneys, but the cause of these perturbations is unclear.  ...  Computations were performed at Vital-IT (http://www.vital -it.ch) of the SIB Swiss Institute of Bioinformatics.  ... 
doi:10.5075/epfl-thesis-8266 fatcat:ata26iofqzhe3pgastzha3bdmi