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Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients. [electronic resource] by
- Gorvin, Caroline M
- Wilmer, Martijn J
- Piret, Sian E
- Harding, Brian
- van den Heuvel, Lambertus P
- Wrong, Oliver
- Jat, Parmjit S
- Lippiat, Jonathan D
- Levtchenko, Elena N
- Thakker, Rajesh V
Producer: 20130627
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 110
Availability: No items available.
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7.
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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. [electronic resource] by
- Esapa, Christopher T
- Piret, Sian E
- Nesbit, M Andrew
- Loh, Nellie Y
- Thomas, Gethin
- Croucher, Peter I
- Brown, Matthew A
- Brown, Steve D M
- Cox, Roger D
- Thakker, Rajesh V
Producer: 20170629
In:
PloS one vol. 11
Availability: No items available.
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8.
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A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation. [electronic resource] by
- 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, Rajesh V
Producer: 20130215
In:
PloS one vol. 7
Availability: No items available.
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9.
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Podocyte-Specific Loss of Krüppel-Like Factor 6 Increases Mitochondrial Injury in Diabetic Kidney Disease. [electronic resource] by
- Horne, Sylvia J
- Vasquez, Jessica M
- Guo, Yiqing
- Ly, Victoria
- Piret, Sian E
- Leonardo, Alexandra R
- Ling, Jason
- Revelo, Monica P
- Bogenhagen, Daniel
- Yang, Vincent W
- He, John C
- Mallipattu, Sandeep K
Producer: 20181224
In:
Diabetes vol. 67
Availability: No items available.
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10.
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Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2). [electronic resource] by
- 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, Rajesh V
Producer: 20171221
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 31
Availability: No items available.
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11.
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Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation. [electronic resource] by
- Howles, Sarah A
- Hannan, Fadil M
- Gorvin, Caroline M
- Piret, Sian E
- Paudyal, Anju
- Stewart, Michelle
- Hough, Tertius A
- Nesbit, M Andrew
- Wells, Sara
- Brown, Stephen Dm
- Cox, Roger D
- Thakker, Rajesh V
Producer: 20190708
In:
JCI insight vol. 2
Availability: No items available.
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12.
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Genetic background influences tumour development in heterozygous Men1 knockout mice. [electronic resource] by
- Lines, Kate E
- Javid, Mahsa
- Reed, Anita A C
- Walls, Gerard V
- Stevenson, Mark
- Simon, Michelle
- Kooblall, Kreepa G
- Piret, Sian E
- Christie, Paul T
- Newey, Paul J
- Mallon, Ann-Marie
- Thakker, Rajesh V
Publication details: Endocrine connections May 2020
In:
Endocrine connections vol. 9
Availability: No items available.
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13.
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Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21. [electronic resource] by
- Piret, Sian E
- Danoy, Patrick
- Dahan, Karin
- Reed, Anita A C
- Pryce, Karena
- Wong, William
- Torres, Rosa J
- Puig, Juan G
- Müller, Thomas
- Kotanko, Peter
- Lhotta, Karl
- Devuyst, Olivier
- Brown, Matthew A
- Thakker, Rajesh V
Producer: 20110202
In:
Human genetics vol. 129
Availability: No items available.
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14.
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Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. [electronic resource] by
- Bowl, Michael R
- Mirczuk, Samantha M
- Grigorieva, Irina V
- Piret, Sian E
- Cranston, Treena
- Southam, Lorraine
- Allgrove, Jeremy
- Bahl, Shailini
- Brain, Caroline
- Loughlin, John
- Mughal, Zulf
- Ryan, Fiona
- Shaw, Nick
- Thakker, Yogini V
- Tiosano, Dov
- Nesbit, M Andrew
- Thakker, Rajesh V
Producer: 20100721
In:
Human molecular genetics vol. 19
Availability: No items available.
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15.
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G [electronic resource] by
- Gorvin, Caroline M
- Hannan, Fadil M
- Howles, Sarah A
- Babinsky, Valerie N
- Piret, Sian E
- Rogers, Angela
- Freidin, Andrew J
- Stewart, Michelle
- Paudyal, Anju
- Hough, Tertius A
- Nesbit, M Andrew
- Wells, Sara
- Vincent, Tonia L
- Brown, Stephen Dm
- Cox, Roger D
- Thakker, Rajesh V
Producer: 20190621
In:
JCI insight vol. 2
Availability: No items available.
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16.
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An [electronic resource] by
- 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 A
- Croucher, Peter I
- Potter, Paul K
- Brown, Steve Dm
- Cox, Roger D
- Thakker, Rajesh V
Publication details: JBMR plus May 2018
In:
JBMR plus vol. 2
Availability: No items available.
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17.
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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. [electronic resource] by
- 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, Jeshmi
- Christie, Paul T
- Wells, Sara
- Simon, Michelle M
- Mallon, Ann-Marie
- Schulz, Herbert
- Huebner, Norbert
- Brown, Matthew A
- Cox, Roger D
- Brown, Steve D
- Thakker, Rajesh V
Producer: 20200622
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 34
Availability: No items available.
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18.
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Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5. [electronic resource] by
- Loh, Nellie Y
- Bentley, Liz
- Dimke, Henrik
- Verkaart, Sjoerd
- Tammaro, Paolo
- Gorvin, Caroline M
- Stechman, Michael J
- Ahmad, Bushra N
- Hannan, Fadil M
- Piret, Sian E
- Evans, Holly
- Bellantuono, Ilaria
- Hough, Tertius A
- Fraser, William D
- Hoenderop, Joost G J
- Ashcroft, Frances M
- Brown, Steve D M
- Bindels, René J M
- Cox, Roger D
- Thakker, Rajesh V
Producer: 20130722
In:
PloS one vol. 8
Availability: No items available.
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19.
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Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis. [electronic resource] by
- 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
- Bass, Paul
- Roberts, Ian
- Sanderson, Jeremy
- Wells, Sara
- Hough, Tertius A
- Bentley, Liz
- Christie, Paul T
- Simon, Michelle M
- Mallon, Ann-Marie
- Schulz, Herbert
- Cox, Roger D
- Brown, Matthew A
- Huebner, Norbert
- Brown, Steve D
- Thakker, Rajesh V
Producer: 20200813
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 34
Availability: No items available.
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20.
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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. [electronic resource] by
- Taylor, Jenny C
- Martin, Hilary C
- Lise, Stefano
- Broxholme, John
- Cazier, Jean-Baptiste
- Rimmer, Andy
- Kanapin, Alexander
- Lunter, Gerton
- Fiddy, Simon
- Allan, Chris
- Aricescu, A Radu
- Attar, Moustafa
- Babbs, Christian
- Becq, Jennifer
- Beeson, David
- Bento, Celeste
- Bignell, Patricia
- Blair, Edward
- Buckle, Veronica J
- Bull, Katherine
- Cais, Ondrej
- Cario, Holger
- Chapel, Helen
- Copley, Richard R
- Cornall, Richard
- Craft, Jude
- Dahan, Karin
- Davenport, Emma E
- Dendrou, Calliope
- Devuyst, Olivier
- Fenwick, Aimée L
- Flint, Jonathan
- Fugger, Lars
- Gilbert, Rodney D
- Goriely, Anne
- Green, Angie
- Greger, Ingo H
- Grocock, Russell
- Gruszczyk, Anja V
- Hastings, Robert
- Hatton, Edouard
- Higgs, Doug
- Hill, Adrian
- Holmes, Chris
- Howard, Malcolm
- Hughes, Linda
- Humburg, Peter
- Johnson, David
- Karpe, Fredrik
- Kingsbury, Zoya
- Kini, Usha
- Knight, Julian C
- Krohn, Jonathan
- Lamble, Sarah
- Langman, Craig
- Lonie, Lorne
- Luck, Joshua
- McCarthy, Davis
- McGowan, Simon J
- McMullin, Mary Frances
- Miller, Kerry A
- Murray, Lisa
- Németh, Andrea H
- Nesbit, M Andrew
- Nutt, David
- Ormondroyd, Elizabeth
- Oturai, Annette Bang
- Pagnamenta, Alistair
- Patel, Smita Y
- Percy, Melanie
- Petousi, Nayia
- Piazza, Paolo
- Piret, Sian E
- Polanco-Echeverry, Guadalupe
- Popitsch, Niko
- Powrie, Fiona
- Pugh, Chris
- Quek, Lynn
- Robbins, Peter A
- Robson, Kathryn
- Russo, Alexandra
- Sahgal, Natasha
- van Schouwenburg, Pauline A
- Schuh, Anna
- Silverman, Earl
- Simmons, Alison
- Sørensen, Per Soelberg
- Sweeney, Elizabeth
- Taylor, John
- Thakker, Rajesh V
- Tomlinson, Ian
- Trebes, Amy
- Twigg, Stephen Rf
- Uhlig, Holm H
- Vyas, Paresh
- Vyse, Tim
- Wall, Steven A
- Watkins, Hugh
- Whyte, Michael P
- Witty, Lorna
- Wright, Ben
- Yau, Chris
- Buck, David
- Humphray, Sean
- Ratcliffe, Peter J
- Bell, John I
- Wilkie, Andrew Om
- Bentley, David
- Donnelly, Peter
- McVean, Gilean
Producer: 20150909
In:
Nature genetics vol. 47
Availability: No items available.
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