Author details

Full Name

Sian E Piret

Affiliation

ORCID

Career Start Year

2007

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37263229	Roles of KrÃ¼ppel-Like Transcription Factors KLF6 and KLF15 in Proximal Tubular Metabolism.		2023
36181578	Transcriptional regulation of proximal tubular metabolism in acute kidney injury.	Pediatr Nephrol	2023
34634362	Loss of proximal tubular transcription factor KrÃ¼ppel-like factor 15 exacerbates kidney injury through loss of fatty acid oxidation.	Kidney Int	2021
34074766	KrÃ¼ppel-like factor 6-mediated loss of BCAA catabolism contributes to kidney injury in mice and humans.	Proc Natl Acad Sci U S A	2021
32645697	Proximal Tubular Transcription Factors in Acute Kidney Injury: Recent Advances.	Nephron	2020
32348957	Genetic background influences tumour development in heterozygous Men1 knockout mice.	Endocr Connect	2020
30830987	Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.	J Bone Miner Res	2019
30395686	An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.	J Bone Miner Res	2019
30283900	An <i>N</i>-Ethyl-<i>N</i>-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion.	JBMR Plus	2018
30115650	Podocyte-Specific Loss of KrÃ¼ppel-Like Factor 6 Increases Mitochondrial Injury in Diabetic Kidney Disease.	Diabetes	2018
28194447	GÎ±11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.	JCI Insight	2017
28325753	A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress.	Dis Model Mech	2017
29046478	Cinacalcet corrects hypercalcemia in mice with an inactivating GÎ±11 mutation.	JCI Insight	2017
27959934	Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway.	PLoS One	2016
26818911	Identification of a G-Protein Subunit-Î±11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).	J Bone Miner Res	2016
27540713	Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.	Am J Med Genet A	2016
25985138	Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.	Nat Genet	2015
23723338	Association between genotype and phenotype in uromodulin-associated kidney disease.	Clinical journal of the American Society of Nephrology : CJASN	2013
23383183	Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.	PLoS One	2013
23572577	Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.	Proc Natl Acad Sci U S A	2013
22071328	Alveolarization continues during childhood and adolescence: new evidence from helium-3 magnetic resonance.	Am J Respir Crit Care Med	2012
22740033	Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.	Nephron Extra	2012
22915754	MEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas.	Cancer Research	2012
23024809	A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation.	PLoS One	2012
21765099	Mouse models for inherited endocrine and metabolic disorders.	Journal of Endocrinology	2011
20976470	Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.	Hum Genet	2011
20190276	Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.	Human Molecular Genetics	2010
19940036	CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease.	Am J Physiol Renal Physiol	2010
19465746	Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.	Human Molecular Genetics	2009
19546591	Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.	Nephron - Physiology	2009
16964291	Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal.	Oncogene	2007
17151335	Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy.	Journal of the American Society of Nephrology : JASN	2007