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Literature DB >> 23111732

Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype.

S E Flanagan, D J G Mackay, S A W Greeley, T J McDonald, V Mericq, J Hassing, E J Richmond, W R Martin, C Acerini, A M Kaulfers, D P Flynn, J Popovic, M A Sperling, K Hussain, S Ellard, A T Hattersley.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Year: 2012 PMID： 23111732 PMCID： PMC3982857 DOI： 10.1007/s00125-012-2766-z

Source DB: PubMed Journal: Diabetologia ISSN： 0012-186X Impact factor: 10.122

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8 in total

1. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

Authors: T Otonkoski; C Ammälä; H Huopio; G J Cote; J Chapman; K Cosgrove; R Ashfield; E Huang; J Komulainen; F M Ashcroft; M J Dunne; J Kere; P M Thomas
Journal: Diabetes Date: 1999-02 Impact factor: 9.461

2. Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.

Authors: Deborah J G Mackay; I Karen Temple; Julian P H Shield; David O Robinson
Journal: Hum Genet Date: 2005-01-06 Impact factor: 4.132

3. An imprinted locus associated with transient neonatal diabetes mellitus.

Authors: R J Gardner; D J Mackay; A J Mungall; C Polychronakos; R Siebert; J P Shield; I K Temple; D O Robinson
Journal: Hum Mol Genet Date: 2000-03-01 Impact factor: 6.150

Review 4. Transient neonatal diabetes mellitus type 1.

Authors: Deborah J G Mackay; I Karen Temple
Journal: Am J Med Genet C Semin Med Genet Date: 2010-08-15 Impact factor: 3.908

5. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM.

Authors: Dan Ma; Julian P H Shield; Wendy Dean; Isabelle Leclerc; Claude Knauf; R éMy Burcelin R; Guy A Rutter; Gavin Kelsey
Journal: J Clin Invest Date: 2004-08 Impact factor: 14.808

6. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.

Authors: Sarah E Flanagan; Ann-Marie Patch; Deborah J G Mackay; Emma L Edghill; Anna L Gloyn; David Robinson; Julian P H Shield; Karen Temple; Sian Ellard; Andrew T Hattersley
Journal: Diabetes Date: 2007-04-19 Impact factor: 9.461

Review 7. Hyperinsulinaemic hypoglycaemia.

Authors: R R Kapoor; S E Flanagan; C James; J Shield; S Ellard; K Hussain
Journal: Arch Dis Child Date: 2009-02-04 Impact factor: 3.791

8. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

Authors: Ewan R Pearson; Sylvia F Boj; Anna M Steele; Timothy Barrett; Karen Stals; Julian P Shield; Sian Ellard; Jorge Ferrer; Andrew T Hattersley
Journal: PLoS Med Date: 2007-04 Impact factor: 11.069

8 in total

9 in total

Review 1. DNA methylation and its role in the pathogenesis of diabetes.

Authors: Amita Bansal; Sara E Pinney
Journal: Pediatr Diabetes Date: 2017-05 Impact factor: 4.866

Review 2. Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.

Authors: Michelle Blanco Lemelman; Lisa Letourneau; Siri Atma W Greeley
Journal: Clin Perinatol Date: 2017-12-16 Impact factor: 3.430

3. Transient Neonatal Diabetes Mellitus with the Rare Association of Nonsuppurative Sialadenitis and Genetic Defects in 6q24.

Authors: Manal Mustafa; Nitin Ramdas; Mahmoud Elhalik; Arif Faquih
Journal: Case Rep Pediatr Date: 2021-08-11

Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype.

1. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

2. Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.

3. An imprinted locus associated with transient neonatal diabetes mellitus.

Review 4. Transient neonatal diabetes mellitus type 1.

5. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM.

6. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.

Review 7. Hyperinsulinaemic hypoglycaemia.

8. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

Review 1. DNA methylation and its role in the pathogenesis of diabetes.

Review 2. Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.

3. Transient Neonatal Diabetes Mellitus with the Rare Association of Nonsuppurative Sialadenitis and Genetic Defects in 6q24.

4. Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related.

Review 5. Monogenic diabetes: a gateway to precision medicine in diabetes.

6. 6q24 Transient Neonatal Diabetes - How to Manage while Waiting for Genetic Results.

7. Chromosome 6q24-related diabetes mellitus.

Review 8. Recent Advances in Neonatal Diabetes.

9. Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report.