Colclough K - Search Results

1

A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes.

Murphy R, Colclough K, Pollin TI, Ikle JM, Svalastoga P, Maloney KA, Saint-Martin C, Molnes J; ADA/EASD Precision Medicine Diabetes Initiative; Misra S, Aukrust I, de Franco A, Flanagan SE, Njølstad PR, Billings LK, Owen KR, Gloyn AL. Murphy R, et al. Among authors: colclough k. medRxiv [Preprint]. 2023 Apr 19:2023.04.15.23288269. doi: 10.1101/2023.04.15.23288269. medRxiv. 2023. PMID: 37131594 Free PMC article. Preprint.

2

Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications.

Kyithar MP, Bacon S, Pannu KK, Rizvi SR, Colclough K, Ellard S, Byrne MM. Kyithar MP, et al. Among authors: colclough k. Diabetes Metab. 2011 Dec;37(6):512-9. doi: 10.1016/j.diabet.2011.04.002. Epub 2011 Jun 16. Diabetes Metab. 2011. PMID: 21683639

3

MODY in Ukraine: genes, clinical phenotypes and treatment.

Globa E, Zelinska N, Elblova L, Dusatkova P, Cinek O, Lebl J, Colclough K, Ellard S, Pruhova S. Globa E, et al. Among authors: colclough k. J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1095-1103. doi: 10.1515/jpem-2017-0075. J Pediatr Endocrinol Metab. 2017. PMID: 28862987

4

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Thomson KL, Gloyn AL, Colclough K, Batten M, Allen LI, Beards F, Hattersley AT, Ellard S. Thomson KL, et al. Among authors: colclough k. Hum Mutat. 2003 Nov;22(5):417. doi: 10.1002/humu.9186. Hum Mutat. 2003. PMID: 14517956

5

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S. Proks P, et al. Among authors: colclough k. Hum Mol Genet. 2006 Jun 1;15(11):1793-800. doi: 10.1093/hmg/ddl101. Epub 2006 Apr 13. Hum Mol Genet. 2006. PMID: 16613899

6

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL. Osbak KK, et al. Among authors: colclough k. Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. Hum Mutat. 2009. PMID: 19790256 Review.

7

Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.

Lango Allen H, Johansson S, Ellard S, Shields B, Hertel JK, Raeder H, Colclough K, Molven A, Frayling TM, Njølstad PR, Hattersley AT, Weedon MN. Lango Allen H, et al. Among authors: colclough k. Diabetes. 2010 Jan;59(1):266-71. doi: 10.2337/db09-0555. Epub 2009 Sep 30. Diabetes. 2010. PMID: 19794065 Free PMC article.

8

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.

Beer NL, van de Bunt M, Colclough K, Lukacs C, Arundel P, Chik CL, Grimsby J, Ellard S, Gloyn AL. Beer NL, et al. Among authors: colclough k. J Biol Chem. 2011 May 27;286(21):19118-26. doi: 10.1074/jbc.M111.223362. Epub 2011 Mar 29. J Biol Chem. 2011. PMID: 21454522 Free PMC article.

9

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S. Colclough K, et al. Hum Mutat. 2013 May;34(5):669-85. doi: 10.1002/humu.22279. Epub 2013 Apr 2. Hum Mutat. 2013. PMID: 23348805

10

Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations.

Thanabalasingham G, Kaur K, Talbot F, Colclough K, Mathews A, Taylor J, Ellard S, Owen KR. Thanabalasingham G, et al. Among authors: colclough k. Diabet Med. 2013 Aug;30(8):e233-8. doi: 10.1111/dme.12210. Diabet Med. 2013. PMID: 23586928

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