Publications by authors named "Jonathan M Locke"

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Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.
Jasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M E Männistö, Jayne A L Houghton, Jonathan M Locke

Genome Med· March 2025

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Accurate and cost-effective generation of a genetic risk score direct from blood lysates.
Jonathan M Locke, Benjamin Spurrier, Thomas W Laver, Jayne A L Houghton, Kevin Colclough

J Transl Med· December 2024

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Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height.
Gareth Hawkes, Robin N Beaumont, Zilin Li, Ravi Mandla, Xihao Li, Jonathan M Locke

Nat Commun· October 2024

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Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records.
Katherine S Ruth, Robin N Beaumont, Jonathan M Locke, Jessica Tyrrell, Carolyn J Crandall

BMC Med Genomics· October 2023

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Detection of enterovirus RNA in peripheral blood mononuclear cells correlates with the presence of the predisposing allele of the type 1 diabetes risk gene IFIH1 and with disease stage.
Amir-Babak Sioofy-Khojine, Sarah J Richardson, Jonathan M Locke, Sami Oikarinen, Noora Nurminen

Diabetologia· October 2022

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Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study.
Jonathan M Locke, Petra Dusatkova, Kevin Colclough, Alice E Hughes, John M Dennis

Diabetologia· January 2022

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Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress.
Hossam Montaser, Kashyap A Patel, Diego Balboa, Hazem Ibrahim, Väinö Lithovius, Jonathan M Locke

Diabetes· April 2021

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Methods for quick, accurate and cost-effective determination of the type 1 diabetes genetic risk score (T1D-GRS).
Jonathan M Locke, Mark J Latten, Renu Y Datta, Andrew R Wood, Martin A Crockard

Clin Chem Lab Med· March 2020

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Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis.
Seth A Sharp, Stephen S Rich, Andrew R Wood, Samuel E Jones, Robin N Beaumont, Jonathan M Locke

Diabetes Care· February 2019

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The Common Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.
Jonathan M Locke, Cécile Saint-Martin, Thomas W Laver, Kashyap A Patel, Andrew R Wood

Diabetes· September 2018

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Functional characterisation of ADIPOQ variants using individuals recruited by genotype.
Benjamin P Lee, Henry O Lloyd-Laney, Jonathan M Locke, Laura J McCulloch, Bridget Knight

Mol Cell Endocrinol· June 2016

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Role of microRNAs in the age-associated decline of pancreatic beta cell function in rat islets.
Ksenia Tugay, Claudiane Guay, Ana C Marques, Florent Allagnat, Jonathan M Locke

Diabetologia· January 2016

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Targeted allelic expression profiling in human islets identifies cis-regulatory effects for multiple variants identified by type 2 diabetes genome-wide association studies.
Jonathan M Locke, Gerald Hysenaj, Andrew R Wood, Michael N Weedon, Lorna W Harries

Diabetes· April 2015

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A cautionary tale: the non-causal association between type 2 diabetes risk SNP, rs7756992, and levels of non-coding RNA, CDKAL1-v1.
Jonathan M Locke, Fan-Yan Wei, Kazuhito Tomizawa, Michael N Weedon, Lorna W Harries

Diabetologia· April 2015

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A rare SNP in pre-miR-34a is associated with increased levels of miR-34a in pancreatic beta cells.
Jonathan M Locke, Hana Lango Allen, Lorna W Harries

Acta Diabetol· April 2014

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The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts.
Faer S Morrison, Jonathan M Locke, Andrew R Wood, Marcus Tuke, Dorota Pasko

BMC Genomics· September 2013

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MicroRNA expression profiling of human islets from individuals with and without type 2 diabetes: promises and pitfalls.
Jonathan M Locke, Lorna W Harries

Biochem Soc Trans· August 2012

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Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
Sarah E Flanagan, Ann-Marie Patch, Jonathan M Locke, Teoman Akcay, Enver Simsek

J Clin Endocrinol Metab· March 2011

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Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
Intza Garin, Emma L Edghill, Ildem Akerman, Oscar Rubio-Cabezas, Itxaso Rica, Jonathan M Locke

Proc Natl Acad Sci U S A· February 2010

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The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development.
Lorna W Harries, Jonathan M Locke, Beverley Shields, Neil A Hanley, Karen Piper Hanley

Diabetes· June 2008

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RNA processing and mRNA surveillance in monogenic diabetes.
Jonathan M Locke, Lorna W Harries

Gene Regul Syst Bio· May 2008

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