Publications — Radcliffe Department of Medicine

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GNA11 variants identified in patients with hypercalcemia or hypocalcemia

Howles S. et al, (2023), Journal of Bone and Mineral Research

Impact of COVID-19 on the management and outcomes of ureteric stones in the UK: a multicentre retrospective study.

Byrne MHV. et al, (2022), BJU Int

Associations of adiposity, kidney stone disease, and serum calcium concentrations; observational and genetic epidemiological studies

Lovegrove C. et al, (2022)

Author Correction: Genetic variants of calcium and vitamin D metabolism in kidney stone disease.

Howles SA. et al, (2022), Nat Commun, 13

Natural history of small asymptomatic kidney and residual stones over a long-term follow-up: systematic review over 25 years.

Lovegrove CE. et al, (2022), BJU Int, 129, 442 - 456

Utility of Blood Tests in Screening for Metabolic Disorders in Kidney Stone Disease

Howles S. et al, (2020), British Journal of Urology (BJU) International

The COVID Stones Collaborative: How has the Management of Ureteric Stones Changed During and After the COVID-19 Pandemic? Rationale and Study Protocol.

Georgiades F. et al, (2020), Journal of Endoluminal Endourology, 3, e22 - e28

Genetics of kidney stone disease.

Howles SA. and Thakker RV., (2020), Nat Rev Urol, 17, 407 - 421

Genetic variants of calcium and vitamin D metabolism in kidney stone disease

HOWLES S. et al, (2019), Nature Communications

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Howles SA. et al, (2017), JCI Insight, 2

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

Gorvin CM. et al, (2017), JCI Insight, 2

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

Piret SE. et al, (2016), J Bone Miner Res, 31, 1207 - 1214

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.

Babinsky VN. et al, (2016), J Biol Chem, 291, 10876 - 10885

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.

Howles SA. et al, (2016), N Engl J Med, 374, 1396 - 1398

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.

Hannan FM. et al, (2015), Hum Mol Genet, 24, 5079 - 5092

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Rogers A. et al, (2014), J Clin Endocrinol Metab, 99, E1300 - E1305

Kidney stones: a fetal origins hypothesis.

Howles SA. et al, (2013), J Bone Miner Res, 28, 2535 - 2539

Familial Hypocalciuric Hypercalcaemia Type 3 (FHH3) Identified in a Family in Northern Ireland Leading to Identification of a Causative Mutation in the Adaptor Protein 2 Sigma 1 (AP2S1) Gene

Graham UM. et al, (2013), IRISH JOURNAL OF MEDICAL SCIENCE, 182, S421 - S421

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

Nesbit MA. et al, (2013), N Engl J Med, 368, 2476 - 2486

Gain-of-Function Mutations in G alpha 11 Cause a Novel Form of Autosomal-Dominant Hypoparathyroidism

Mannstadt M. et al, (2013), JOURNAL OF BONE AND MINERAL RESEARCH, 28

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