Publications by authors named "Zachary W Pitluk"
Article Synopsis
- Bartter syndrome is a rare genetic disorder affecting kidney function by impairing electrolyte reabsorption, leading to potentially fatal conditions like hyponatremia and dehydration, with type II linked to mutations in the KCNJ1 gene.
- The study focused on identifying new, uncharacterized mutations in KCNJ1 that may cause disease by using genomic databases and advanced computational tools to analyze phenotypic and genomic data, particularly from the UK Biobank, NIH TOPMed, and ClinVar.
- Two mutations were highlighted: G228E, which destabilizes the potassium channel ROMK and leads to its degradation, and T300R, which is resistant to ER degradation but shows impaired channel activity, suggesting that these findings can help
Article Synopsis
- Bartter syndrome is a rare genetic disorder affecting kidney function by disrupting electrolyte reabsorption, leading to severe health issues if untreated, including fatal hyponatremia and hypokalemia.
- The study focuses on Bartter syndrome type II, which is linked to mutations in the ROMK gene; researchers identified over 40 associated mutations but most remain poorly understood.
- Utilizing genomic databases and computational tools, the study discovered four new mutations in ROMK that affect its stability and function, with some mutations leading to premature degradation of the protein while others demonstrated resistance to degradation.
Background: Single-cell (sc) sequencing performs unbiased profiling of individual cells and enables evaluation of less prevalent cellular populations, often missed using bulk sequencing. However, the scale and the complexity of the sc datasets poses a great challenge in its utility and this problem is further exacerbated when working with larger datasets typically generated by consortium efforts. As the scale of single cell datasets continues to increase exponentially, there is an unmet technological need to develop database platforms that can evaluate key biological hypotheses by querying extensive single-cell datasets.
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