Publications by authors named "Sarah A Howles"

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Kidney stone disease: risk factors, pathophysiology and management.
Matteo Bargagli, Martin Scoglio, Sarah A Howles, Daniel G Fuster

Nat Rev Nephrol· November 2025

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Genetic variants predisposing to an increased risk of kidney stone disease.
Catherine E Lovegrove, Michelle Goldsworthy, Jeremy Haley, Diane Smelser, Caroline Gorvin, Sarah A Howles

J Clin Invest· August 2025

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Calcium sensing receptor expression is downregulated in gastroenteropancreatic neuroendocrine tumours via epigenetic mechanisms.
Katherine A English, Michelle Goldsworthy, Brittannie Willis, Kreepa G Kooblall, Shweta Birla, Sarah A Howles

Int J Cancer· March 2025

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Rare disease gene association discovery in the 100,000 Genomes Project.
Valentina Cipriani, Letizia Vestito, Emma F Magavern, Julius O B Jacobsen, Gavin Arno, Sarah A Howles

Nature· February 2025

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Matched pair analysis of wide versus narrow focus during shockwave lithotripsy for urolithiasis.
Anna J Sharp, Catherine E Lovegrove, Roshan Sreekumar, Mandy Spencer, Benjamin W Turney, Sarah A Howles

Urolithiasis· December 2024

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Causal inference in health and disease: a review of the principles and applications of Mendelian randomization.
Catherine E Lovegrove, Sarah A Howles, Dominic Furniss, Michael V Holmes

J Bone Miner Res· October 2024

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Monitoring Calcium-Sensing Receptor (CaSR)-Induced Intracellular Calcium Flux Using an Indo-1 Flow Cytometry Assay.
Caroline M Gorvin, Sarah A Howles

Methods Mol Biol· October 2024

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Urology never events in the United Kingdom: A retrospective 10-year review.
Jerocin Vishani Loyala, Andrew Ang, Billy Down, Sarah A Howles

BJUI Compass· May 2024

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Mucinous Adenocarcinoma of the Prostate With Normal Prostate-Specific Antigen Levels, Pulmonary Metastasis, and the Absence of Nodal Disease: A Case Report.
Arham A Khokhar, Sarah A Howles, Aaron W Leiblich, Khubaib Samdani, Mubariz Ahmed

Cureus· March 2024

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Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.
Thomas Cuny, Pauline Romanet, Michelle Goldsworthy, Carole Guérin, Marie Wilkin, Sarah A Howles

J Clin Endocrinol Metab· January 2024

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Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations.
Catherine E Lovegrove, Jelena Bešević, Akira Wiberg, Ben Lacey, Thomas J Littlejohns, Sarah A Howles

J Am Soc Nephrol· December 2023

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Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Valentina Cipriani, Letizia Vestito, Emma F Magavern, Julius Ob Jacobsen, Gavin Arno, Sarah A Howles

medRxiv· December 2023

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Pregnancy and parenthood in surgical training: a cross-sectional survey in the UK.
Jessica Whitburn, Saiful Miah, Sarah A Howles

Br J Surg· November 2023

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GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Sarah A Howles, Caroline M Gorvin, Treena Cranston, Angela Rogers, Anna K Gluck

J Bone Miner Res· June 2023

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Author Correction: Genetic variants of calcium and vitamin D metabolism in kidney stone disease.
Sarah A Howles, Akira Wiberg, Michelle Goldsworthy, Asha L Bayliss, Anna K Gluck

Nat Commun· May 2022

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Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones.
M Reza Jabalameli, Fiona M Fitzpatrick, Roberto Colombo, Sarah A Howles, Gary Leggatt

Mol Genet Genomic Med· December 2021

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Utility of blood tests in screening for metabolic disorders in kidney stone disease.
Katie S Eyre, Francesca Lewis, Helen Cui, Emily Grout, Radu Mihai, Sarah A Howles

BJU Int· May 2021

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Genetics of kidney stone disease.
Sarah A Howles, Rajesh V Thakker

Nat Rev Urol· July 2020

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Genetic variants of calcium and vitamin D metabolism in kidney stone disease.
Sarah A Howles, Akira Wiberg, Michelle Goldsworthy, Asha L Bayliss, Anna K Gluck

Nat Commun· November 2019

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Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.
Sarah A Howles, Fadil M Hannan, Caroline M Gorvin, Sian E Piret, Anju Paudyal

JCI Insight· October 2017

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G mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.
Caroline M Gorvin, Fadil M Hannan, Sarah A Howles, Valerie N Babinsky, Sian E Piret

JCI Insight· February 2017

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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).
Sian E Piret, Caroline M Gorvin, Alistair T Pagnamenta, Sarah A Howles, Treena Cranston

J Bone Miner Res· June 2016

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Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.
Valerie N Babinsky, Fadil M Hannan, Caroline M Gorvin, Sarah A Howles, M Andrew Nesbit

J Biol Chem· May 2016

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Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.
Sarah A Howles, Fadil M Hannan, Valerie N Babinsky, Angela Rogers, Caroline M Gorvin

N Engl J Med· April 2016

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Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Fadil M Hannan, Sarah A Howles, Angela Rogers, Treena Cranston, Caroline M Gorvin

Hum Mol Genet· September 2015

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