Sian E. Piret: search on Z-Library

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1

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

Piret, Sian E., Gorvin, Caroline M., Trinh, Anne, Taylor, John, Lise, Stefano, Taylor, Jenny C., Ebeling, Peter R., Thakker, Rajesh V.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 319 KB

english, 2016

2

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

Esapa, Christopher T, Piret, Sian E, Nesbit, M Andrew, Thomas, Gethin P, Coulton, Leslie A, Gallagher, Orla M, Simon, Michelle M, Kumar, Saumya, Mallon, Ann-Marie, Bellantuono, Ilaria, Brown, Matthew

Journal:

Year:

2018

Language:

english

File:

PDF, 1.78 MB

english, 2018

3

Proximal Tubular Transcription Factors in Acute Kidney Injury: Recent Advances

Piret, Sian E., Mallipattu, Sandeep K.

Journal:

Year:

2020

File:

PDF, 200 KB

2020

4

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

Horne, Sylvia J., Vasquez, Jessica, Guo, Yiqing, Ly, Victoria, Piret, Sian, Leonardo, Alexandria, Ling, Jason, Revelo, Monica P., Bogenhagen, Daniel, Yang, Vincent W., He, John C., Mallipattu, Sandeep

Journal:

Year:

2018

Language:

english

File:

PDF, 2.56 MB

english, 2018

5

A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation

Piret, Sian E., Esapa, Christopher T., Gorvin, Caroline M., Head, Rosie, Loh, Nellie Y., Devuyst, Olivier, Thomas, Gethin, Brown, Steve D. M., Brown, Matthew, Croucher, Peter, Cox, Roger, Thakker, Raj

Journal:

Year:

2012

Language:

english

File:

PDF, 7.81 MB

english, 2012

6

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

Gorvin, Caroline M., Ahmad, Bushra N., Stechman, Michael J., Loh, Nellie Y., Hough, Tertius A., Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bentley, Liz, Piret, Sian E., Reed, Anita, Jeyabalan, Jes

Journal:

Journal of Bone and Mineral Research

Year:

2018

Language:

english

File:

PDF, 912 KB

english, 2018

7

Mice With a Brd4 Mutation Represent a New Model of Nephrocalcinosis

Gorvin, Caroline M, Loh, Nellie Y, Stechman, Michael J, Falcone, Sara, Hannan, Fadil M, Ahmad, Bushra N, Piret, Sian E, Reed, Anita AC, Jeyabalan, Jeshmi, Leo, Paul, Marshall, Mhairi, Sethi, Siddharth

Journal:

Journal of Bone and Mineral Research

Year:

2019

Language:

english

File:

PDF, 1.72 MB

english, 2019

8

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

Sian E. Piret, Patrick Danoy, Karin Dahan, Anita A. C. Reed, Karena Pryce, William Wong, Rosa J. Torres, Juan G. Puig, Thomas Müller, Peter Kotanko, Karl Lhotta, Olivier Devuyst, Matthew A. Brown, Raj

Journal:

Year:

2011

Language:

english

File:

PDF, 403 KB

english, 2011

9

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

Piret, Sian E, Gorvin, Caroline M, Pagnamenta, Alistair T, Howles, Sarah A, Cranston, Treena, Rust, Nigel, Nesbit, M Andrew, Glaser, Ben, Taylor, Jenny C, Buchs, Andreas E, Hannan, Fadil M, Thakker, R

Journal:

Journal of Bone and Mineral Research

Year:

2016

Language:

english

File:

PDF, 1.38 MB

english, 2016

10

Genetics of Bone Biology and Skeletal Disease || Mouse Models: Approaches to Generate In Vivo Models for Hereditary Disorders of Mineral and Skeletal Homeostasis

Piret, Siân E.

Year:

2018

Language:

english

File:

PDF, 1.99 MB

english, 2018

11

Mice With a Brd4 Mutation Represent a New Model of Nephrocalcinosis

Gorvin, Caroline M, Loh, Nellie Y, Stechman, Michael J, Falcone, Sara, Hannan, Fadil M, Ahmad, Bushra N, Piret, Sian E, Reed, Anita AC, Jeyabalan, Jeshmi, Leo, Paul, Marshall, Mhairi, Sethi, Siddharth

Journal:

Journal of Bone and Mineral Research

Year:

2019

File:

PDF, 1.72 MB

2019

12

Mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress

Piret, Sian E., Olinger, Eric, Reed, Anita A. C., Nesbit, M. Andrew, Hough, Tertius A., Bentley, Liz, Devuyst, Olivier, Cox, Roger, Thakker, Rajesh V.

Journal:

Disease Models & Mechanisms

Year:

2017

Language:

english

File:

PDF, 1.96 MB

english, 2017

13

Genetics of Bone Biology and Skeletal Disease || Mouse Models

Piret, Siân E.

Year:

2013

Language:

english

File:

PDF, 810 KB

english, 2013

14

Epidemiology of Uromodulin-Associated Kidney Disease – Results from a Nation-Wide Survey

Lhotta, Karl, Piret, Sian E., Kramar, Reinhard, Thakker, Rajesh V., Sunder-Plassmann, Gere, Kotanko, Peter

Journal:

Year:

2012

Language:

english

File:

PDF, 1.15 MB

english, 2012

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