Locke J - Search Results

1

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.

Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S, Hussain K. Kapoor RR, et al. Among authors: locke j. Diabetes. 2008 Jun;57(6):1659-63. doi: 10.2337/db07-1657. Epub 2008 Feb 11. Diabetes. 2008. PMID: 18268044

2

The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development.

Harries LW, Locke JM, Shields B, Hanley NA, Hanley KP, Steele A, Njølstad PR, Ellard S, Hattersley AT. Harries LW, et al. Diabetes. 2008 Jun;57(6):1745-52. doi: 10.2337/db07-1742. Epub 2008 Mar 20. Diabetes. 2008. PMID: 18356407 Free article.

3

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.

Flanagan SE, Patch AM, Locke JM, Akcay T, Simsek E, Alaei M, Yekta Z, Desai M, Kapoor RR, Hussain K, Ellard S. Flanagan SE, et al. J Clin Endocrinol Metab. 2011 Mar;96(3):E498-502. doi: 10.1210/jc.2010-1906. Epub 2011 Jan 20. J Clin Endocrinol Metab. 2011. PMID: 21252247 Free PMC article.

4

The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.

Locke JM, Saint-Martin C, Laver TW, Patel KA, Wood AR, Sharp SA, Ellard S, Bellanné-Chantelot C, Hattersley AT, Harries LW, Weedon MN. Locke JM, et al. Diabetes. 2018 Sep;67(9):1903-1907. doi: 10.2337/db18-0133. Epub 2018 Jun 12. Diabetes. 2018. PMID: 29895593 Free PMC article.

5

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress.

Montaser H, Patel KA, Balboa D, Ibrahim H, Lithovius V, Näätänen A, Chandra V, Demir K, Acar S, Ben-Omran T, Colclough K, Locke JM, Wakeling M, Lindahl M, Hattersley AT, Saarimäki-Vire J, Otonkoski T. Montaser H, et al. Among authors: locke jm. Diabetes. 2021 Apr;70(4):1006-1018. doi: 10.2337/db20-1174. Epub 2021 Jan 26. Diabetes. 2021. PMID: 33500254 Free PMC article.

6

Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study.

Locke JM, Dusatkova P, Colclough K, Hughes AE, Dennis JM, Shields B, Flanagan SE, Shepherd MH, Dempster EL, Hattersley AT, Weedon MN, Pruhova S, Patel KA. Locke JM, et al. Diabetologia. 2022 Jan;65(1):246-249. doi: 10.1007/s00125-021-05581-6. Epub 2021 Oct 7. Diabetologia. 2022. PMID: 34618178 Free PMC article. No abstract available.

7

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.

Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T; Neonatal Diabetes International Group; Johnstone K, Flanagan SE, Martínez R, Castaño C, Patch AM, Fernández-Rebollo E, Raile K, Morgan N, Harries LW, Castaño L, Ellard S, Ferrer J, Perez de Nanclares G, Hattersley AT. Garin I, et al. Among authors: locke jm. Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3105-10. doi: 10.1073/pnas.0910533107. Epub 2010 Jan 28. Proc Natl Acad Sci U S A. 2010. PMID: 20133622 Free PMC article.

8

Variants in the isoform-specific coding regions of the HNF1A, HNF4A and HNF1B genes are not a common cause of familial, young-onset diabetes or renal cysts and diabetes (RCAD).

Locke JM, Ellard S, Norwood VF, Harries LW. Locke JM, et al. Diabet Med. 2009 May;26(5):569-70. doi: 10.1111/j.1464-5491.2009.02705.x. Diabet Med. 2009. PMID: 19646202 No abstract available.

9

Targeted allelic expression profiling in human islets identifies cis-regulatory effects for multiple variants identified by type 2 diabetes genome-wide association studies.

Locke JM, Hysenaj G, Wood AR, Weedon MN, Harries LW. Locke JM, et al. Diabetes. 2015 Apr;64(4):1484-91. doi: 10.2337/db14-0957. Epub 2014 Nov 12. Diabetes. 2015. PMID: 25392243

10

Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis.

Sharp SA, Rich SS, Wood AR, Jones SE, Beaumont RN, Harrison JW, Schneider DA, Locke JM, Tyrrell J, Weedon MN, Hagopian WA, Oram RA. Sharp SA, et al. Among authors: locke jm. Diabetes Care. 2019 Feb;42(2):200-207. doi: 10.2337/dc18-1785. Diabetes Care. 2019. PMID: 30655379 Free PMC article.

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