List of works - Sarah A. Howles

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

scientific article

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

scientific article published on 18 March 2016

Causal inference in health and disease: a review of the principles and applications of Mendelian randomization

scientific article published in 2024

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

scientific article

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations

scientific article published on April 2016

Flexible cystoscopy findings in patients investigated for profound lower urinary tract symptoms, recurrent urinary tract infection, and pain.

scientific article published on 30 July 2012

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

scientific article published on 15 November 2019

Genetics of kidney stone disease

scientific article published on 12 June 2020

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

scientific article published on 09 February 2017

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

Kidney stones: a fetal origins hypothesis

scientific article published on December 2013

Label-free quantitative proteomics reveals differentially regulated proteins influencing urolithiasis

scientific article

Lack of effectiveness of botulinum neurotoxin A on isolated detrusor strips and whole bladders from mice and guinea-pigs in vitro.

scientific article published on 19 May 2009

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

scientific article published on 7 April 2014

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia

scientific article

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

scientific article published on 9 December 2012

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

scientific article published on 23 September 2020

Vaccination with a modified vaccinia virus Ankara (MVA)-vectored HIV-1 immunogen induces modest vector-specific T cell responses in human subjects

scientific article published on 16 September 2010

List of works by Sarah A. Howles

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

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

Causal inference in health and disease: a review of the principles and applications of Mendelian randomization

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations

Flexible cystoscopy findings in patients investigated for profound lower urinary tract symptoms, recurrent urinary tract infection, and pain.

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

Genetics of kidney stone disease

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

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

Kidney stones: a fetal origins hypothesis

Label-free quantitative proteomics reveals differentially regulated proteins influencing urolithiasis

Lack of effectiveness of botulinum neurotoxin A on isolated detrusor strips and whole bladders from mice and guinea-pigs in vitro.

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

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

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

Vaccination with a modified vaccinia virus Ankara (MVA)-vectored HIV-1 immunogen induces modest vector-specific T cell responses in human subjects