Siân E. Piret
Publications by Year
Research Areas
Parathyroid Disorders and Treatments, Renal Diseases and Glomerulopathies, Genetic Syndromes and Imprinting, Kruppel-like factors research, Chronic Kidney Disease and Diabetes
Most-Cited Works
- → Factors influencing success of clinical genome sequencing across a broad spectrum of disorders(2015)386 cited
- → Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients(2013)84 cited
- → Loss of proximal tubular transcription factor Krüppel-like factor 15 exacerbates kidney injury through loss of fatty acid oxidation(2021)83 cited
- → Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy(2017)68 cited
- → Krüppel-like factor 6–mediated loss of BCAA catabolism contributes to kidney injury in mice and humans(2021)66 cited
- → Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease(2013)59 cited
- → Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism(2010)52 cited
- → Mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress(2017)45 cited
- → Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5(2013)42 cited
- → Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)(2016)38 cited