The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY

Autor: Anna L. Gloyn, Richard Caswell, Andrew T. Hattersley, Anna M. Steele, N. D. Tribble, Sian Ellard, Kirsty J. Wensley

Publikováno v: Diabetologia; Vol 54

Keywords Glucokinase.Glucokinase mutation.Hyperglycaemia.Missense mutation.MODY.Non-pathogenicAbbreviationsGCK GlucokinaseSNP Single nucleotide polymorphismTo the Editor: There is renewed interest in the difficulties ofinterpreting the role of missen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::815e08d61b66c6b006b31125c7c94fe5
https://ora.ox.ac.uk/objects/uuid:0532989f-3a86-4870-8705-d9baaa6229ee

Permanent Neonatal Diabetes Mellitus Caused by a Novel Homozygous (T168A) Glucokinase (GCK) Mutation: Initial Response to Oral Sulphonylurea Therapy

Autor: N. D. Tribble, Sian Ellard, Iffet Bircan, Sema Akçurin, Anna L. Gloyn, Doga Turkkahraman

Publikováno v: The Journal of Pediatrics. 153:122-126

Objective To evaluate the clinical response to sulphonylurea treatment in a child with a homozygous T168A GCK (glucokinase) mutation, causing permanent neonatal diabetes mellitus (PNDM). Study design Oral glibenclamide was given for 3 months. Pancrea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::107a9f6a0d3c5097a39a85dfd496af23
https://doi.org/10.1016/j.jpeds.2007.12.037

Evidence for changes in the transcription levels of two putative P-glycoprotein genes in sea lice (Lepeophtheirus salmonis) in response to emamectin benzoate exposure

Autor: Frederick S. B. Kibenge, N. D. Tribble, John F. Burka

Publikováno v: Molecular and Biochemical Parasitology. 153:59-65

Overexpression of P-glycoproteins (Pgps) is assumed to be a principal mechanism of resistance of nematodes and arthropods to macrocyclic lactones. Quantitative RT-PCR (Q-RT-PCR) was used to demonstrate changes in transcription levels of two putative

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5ded1166ff69023b5a4cbf39cb4e326
https://doi.org/10.1016/j.molbiopara.2007.02.002

Naturally Occurring Glucokinase Mutations Are Associated with Defects in Posttranslational S-Nitrosylation

Autor: N. D. Tribble, Michele L. Markwardt, Catherine A. Kraft, Mark A. Rizzo, Anna L. Gloyn, Shi-Ying Ding

Posttranslational activation of glucokinase (GCK) through S-nitrosylation has been recently observed in the insulin-secreting pancreatic β-cell; however, the function of this molecular mechanism in regulating the physiology of insulin secretion is n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d0bad51138b5224329d2edd95d2b9d8
https://europepmc.org/articles/PMC2802892/

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation

Autor: Anders Molven, Jan Alm, Sian Ellard, Klaus Brusgaard, Henrik Thybo Christesen, Tone Sandal, Juveria Siddiqui, Khalid Hussain, Pål R. Njølstad, Anna L. Gloyn, Bendt Brock Jacobsen, N. D. Tribble

Publikováno v: Christesen, H B T, Tribble, N D, Molven, A, Siddiqui, J, Sandal, T, Brusgaard, K, Ellard, S, Njølstad, P R, Alm, J, Brock Jacobsen, B, Hussain, K & Gloyn, A L 2008, ' Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation ', European Journal of Endocrinology, vol. 159, no. 1, pp. 27-34 . https://doi.org/10.1530/EJE-08-0203

ObjectiveActivating glucokinase (GCK) mutations are a rarely reported cause of congenital hyperinsulinism (CHI), but the prevalence of GCK mutations is not known.MethodsFrom a pooled cohort of 201 non-syndromic children with CHI from three European r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb537a215ceaeb317de35e4b744317d
https://pubmed.ncbi.nlm.nih.gov/18450771