Cargando…

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans

Detalles Bibliográficos
Autores principales:	van de Bunt, Martijn, Edghill, Emma L., Hussain, Khalid, Ellard, Sian, Gloyn, Anna L.
Formato:	Texto
Lenguaje:	English
Publicado:	Academic Press 2008
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427397/ https://www.ncbi.nlm.nih.gov/pubmed/18325809 http://dx.doi.org/10.1016/j.ymgme.2008.01.008

Ejemplares similares

Identification and Functional Characterisation of Novel Glucokinase Mutations Causing Maturity-Onset Diabetes of the Young in Slovakia
por: Valentínová, Lucia, et al.
Publicado: (2012)

Glucokinase activating mutation causing hypoglycaemia diagnosed late in adult who fasts for Ramadhan
por: Loh, Wann Jia, et al.
Publicado: (2021)

RET gene mutations are not a common cause of congenital solitary functioning kidney in adults
por: Oram, Richard A., et al.
Publicado: (2009)

Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (−71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans
por: Gašperíková, Daniela, et al.
Publicado: (2009)

Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia
por: Senniappan, Senthil, et al.
Publicado: (2015)

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)
por: Islam, Sumaya, et al.
Publicado: (2021)

Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age
por: Arya, Ved Bhushan, et al.
Publicado: (2013)

Insights Into the Pathogenicity of Rare Missense GCK Variants From the Identification and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in Cis
por: Beer, Nicola L., et al.
Publicado: (2012)

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia
por: Laver, Thomas W., et al.
Publicado: (2018)

A Panel of Diverse Assays to Interrogate the Interaction between Glucokinase and Glucokinase Regulatory Protein, Two Vital Proteins in Human Disease
por: Rees, Matthew G., et al.
Publicado: (2014)

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
por: Heslegrave, Amanda J, et al.
Publicado: (2012)

Use of HbA1c in the Identification of Patients with Hyperglycaemia Caused by a Glucokinase Mutation: Observational Case Control Studies
por: Steele, Anna M., et al.
Publicado: (2013)

Sirolimus therapy following subtotal pancreatectomy in neonatal hyperinsulinemic hypoglycaemia: a case report
por: Abraham, Mary, et al.
Publicado: (2015)

Antenatal Diagnosis of Fetal Genotype Determines if Maternal Hyperglycemia Due to a Glucokinase Mutation Requires Treatment
por: Chakera, Ali J., et al.
Publicado: (2012)

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia
por: Roženková, Klára, et al.
Publicado: (2015)

A comprehensive map of human glucokinase variant activity
por: Gersing, Sarah, et al.
Publicado: (2023)

Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia
por: Stride, Amanda, et al.
Publicado: (2013)

Somatostatin analogues for the treatment of hyperinsulinaemic hypoglycaemia
por: Haris, Basma, et al.
Publicado: (2020)

Insights into the role of neuronal glucokinase
por: De Backer, Ivan, et al.
Publicado: (2016)

Role of Glucokinase in the Subcellular Localization of Glucokinase Regulatory Protein
por: Jin, Ling, et al.
Publicado: (2015)

Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia
por: Flanagan, SE, et al.
Publicado: (2011)

Hyperinsulinaemic Hypoglycaemia: Genetic Mechanisms, Diagnosis and Management
por: Mohamed, Zainaba, et al.
Publicado: (2012)

Comparative Structural and Functional Analysis of Staphylococcus aureus Glucokinase with other Bacterial Glucokinases
por: Kumar, P. S., et al.
Publicado: (2014)

Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene
por: Pearson, Ewan R, et al.
Publicado: (2007)

HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response
por: Arya, V B, et al.
Publicado: (2014)

Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2: New Insights Into Synergistic Pathways Involved in Growth and Metabolism
por: Suliman, Sara G.I., et al.
Publicado: (2009)

Ebb and Tide of Glucokinase
por: Matschinsky, Franz M.
Publicado: (2001)

Hypoglycaemia Unawareness: Causes, Consequences and Treatment
por: MacLeod, Kenneth M
Publicado: (2000)

Acetylation of glucokinase regulatory protein decreases glucose metabolism by suppressing glucokinase activity
por: Park, Joo-Man, et al.
Publicado: (2015)

An Evaluation of Growth Hormone and IGF-1 Responses in Neonates with Hyperinsulinaemic Hypoglycaemia
por: Senniappan, Senthil, et al.
Publicado: (2013)

Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes
por: Misra, Shivani, et al.
Publicado: (2020)

Association of common gene variants in glucokinase regulatory protein with cardiorenal disease: A systematic review and meta-analysis
por: Simons, Pomme I. H. G., et al.
Publicado: (2018)

In Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy
por: Powell, Philippa D., et al.
Publicado: (2011)

Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)
por: Cappella, Michela, et al.
Publicado: (2015)

Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology
por: Demirbilek, Huseyin, et al.
Publicado: (2017)

Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)—Diagnosis and Management
por: Rodd, Celia, et al.
Publicado: (2016)

Hypoglycæmia
Publicado: (1934)

Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations
por: Kapoor, R. R., et al.
Publicado: (2011)

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia
por: Flanagan, SE, et al.
Publicado: (2017)

Clinical Heterogeneity in Monogenic Diabetes Caused by Mutations in the Glucokinase Gene (GCK-MODY)
por: Cuesta-Muñoz, Antonio L., et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_p18m0fanaeecmkab8lrrts8grv