List of works - Sian E Piret

A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress

scientific article

A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation

scientific article

An -Ethyl--Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion

article published in 2018

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

scientific article published on 14 December 2018

Association between genotype and phenotype in uromodulin-associated kidney disease

scientific article published on 30 May 2013

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5

scientific article

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.

scientific article

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

scientific article

Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.

scientific article

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

scientific article

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21

article

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

scientific article published on 09 February 2017

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

scientific article

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

scientific article published on 28 January 2016

Krüppel-like factor 6-mediated loss of BCAA catabolism contributes to kidney injury in mice and humans

scientific article published on 01 June 2021

MEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas

scientific article

Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis

scientific article published on 04 March 2019

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

scientific article

Mouse models for inherited endocrine and metabolic disorders.

scientific article published on 15 July 2011

Podocyte-Specific Loss of Krüppel-Like Factor 6 Increases Mitochondrial Injury in Diabetic Kidney Disease

scientific article published on 16 August 2018

Proximal Tubular Transcription Factors in Acute Kidney Injury: Recent Advances

scientific article published on 09 July 2020

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients

scientific article published on 9 April 2013

List of works by Sian E Piret

A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress

A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation

An -Ethyl--Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion

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

Association between genotype and phenotype in uromodulin-associated kidney disease

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

Krüppel-like factor 6-mediated loss of BCAA catabolism contributes to kidney injury in mice and humans

MEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas

Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis

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

Mouse models for inherited endocrine and metabolic disorders.

Podocyte-Specific Loss of Krüppel-Like Factor 6 Increases Mitochondrial Injury in Diabetic Kidney Disease

Proximal Tubular Transcription Factors in Acute Kidney Injury: Recent Advances

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients