Functional analysis of a mutant sulphonylurea receptor associated with a mild form of persistent hyperinsulinaemic hypoglycaemia of infancy

Functional analysis of a mutant sulphonylurea receptor associated with a mild form of persistent hyperinsulinaemic hypoglycaemia of infancy

Bibliografiska uppgifter
Huvudupphovsmän:	Trapp, S, Jones, P, Matsuo, M, Amachi, T, Ueda, K, Tanizawa, Y, Oka, Y, Ashcroft, F
Materialtyp:	Journal article
Publicerad:	2000

Liknande verk

Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy.
av: Matsuo, M, et al.
Publicerad: (2000)

Persistent Hyperinsulinaemic Hypoglycaemia of Infancy in 43 Children: Long-term Clinical and Surgical Follow-up
av: Saleh Al-Nassar, et al.
Publicerad: (2006-07-01)

Asymptomatic Hyperinsulinaemic Hypoglycaemia
av: Ana Ferreira, et al.
Publicerad: (2020-07-01)

Sulphonylureas and hypoglycaemia.
av: Ferner, R, et al.
Publicerad: (1988)

Varied presentation of hyperinsulinaemic hypoglycaemia
av: K.V. Sreedhar Babu, et al.
Publicerad: (2012-02-01)

The diagnosis and management of hyperinsulinaemic hypoglycaemia
av: Sita T. Clark, et al.
Publicerad: (2021-12-01)

Hyperinsulinaemic Hypoglycaemia - The Molecular Mechanisms
av: Azizun eNessa, et al.
Publicerad: (2016-03-01)

Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
av: Gloyn, A, et al.
Publicerad: (2006)

Somatostatin analogues for the treatment of hyperinsulinaemic hypoglycaemia
av: Basma Haris, et al.
Publicerad: (2020-12-01)

NEM modification prevents high-affinity ATP binding to the first nucleotide binding fold of the sulphonylurea receptor, SUR1.
av: Matsuo, M, et al.
Publicerad: (1999)

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.
av: Wabitsch, M, et al.
Publicerad: (2007)

Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1
av: Ellada Sotiridou, et al.
Publicerad: (2021-01-01)

Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
av: Gloyn, A, et al.
Publicerad: (2007)

Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia
av: Chris Worth, et al.
Publicerad: (2020-06-01)

Adult-onset hyperinsulinaemic hypoglycaemia in clinical practice: diagnosis, aetiology and management
av: Benjamin G Challis, et al.
Publicerad: (2017-09-01)

A tale of two sisters – delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia
av: F Stringer, et al.
Publicerad: (2024-08-01)

An Evaluation of Growth Hormone and IGF-1 Responses in Neonates with Hyperinsulinaemic Hypoglycaemia
av: Senthil Senniappan, et al.
Publicerad: (2013-01-01)

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease
av: Carolyn Bursle, et al.
Publicerad: (2020-01-01)

Sirolimus therapy in a child with partially diazoxide-responsive hyperinsulinaemic hypoglycaemia
av: Kah-Yin Loke, et al.
Publicerad: (2016-10-01)

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
av: Ewan R Pearson, et al.
Publicerad: (2007-04-01)

Hyperinsulinaemic hypoglycaemia - a diagnostic challenge. A report of two atypical cases.
av: Renata Baronaite Hansen, et al.
Publicerad: (2015-07-01)

Clinical presentation of 54 patients with endogenous hyperinsulinaemic hypoglycaemia: a neurological chameleon (observational study)
av: Luca G. Valente, et al.
Publicerad: (2018-11-01)

Accuracy and impact on quality of life of real-time continuous glucose monitoring in children with hyperinsulinaemic hypoglycaemia
av: Madhini Sivasubramanian, et al.
Publicerad: (2023-09-01)

Exceptional diazoxide sensitivity in hyperinsulinaemic hypoglycaemia due to a novel HNF4A mutation
av: Ved Bhushan Arya, et al.
Publicerad: (2019-05-01)

Diazoxide use for neonatal hyperinsulinaemic hypoglycaemia in a low-resource setting: A Case Report
av: Adekoya AO, et al.
Publicerad: (2020-08-01)

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
av: Heslegrave Amanda J, et al.
Publicerad: (2012-05-01)

Paternal uniparental isodisomy of chromosome 11p15.5 within the pancreas causes isolated hyperinsulinaemic hypoglycaemia
av: Sarah E Flanagan, et al.
Publicerad: (2011-11-01)

Hyperinsulinaemic hypoglycaemia in non-anaesthetized Göttingen minipigs induces a counter-regulatory endocrine response and electrocardiographic changes
av: Mille K. Lyhne, et al.
Publicerad: (2021-03-01)

Chronic Hyperinsulinaemic Hypoglycaemia in Rats Is Accompanied by Increased Body Weight, Hyperleptinaemia, and Decreased Neuronal Glucose Transporter Levels in the Brain
av: Vivi F. H. Jensen, et al.
Publicerad: (2017-01-01)

Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor.
av: Tucker, S, et al.
Publicerad: (1997)

Trends in Presentation and Management of Endogenous Hyperinsulinaemic Hypoglycaemia Over the Last Three Decades at a Tertiary Care Centre (1992–2022)
av: Setu Gupta, et al.
Publicerad: (2024-08-01)

New uses for old drugs: neonatal diabetes and sulphonylureas.
av: Ashcroft, F
Publicerad: (2010)

Congenital Hyperinsulinemic Hypoglycaemia of Infancy- A Case Report
av: Mani Raj, et al.
Publicerad: (2021-07-01)

Characterization of two novel forms of the rat sulphonylurea receptor SUR1A2 and SUR1BDelta31.
av: Gros, L, et al.
Publicerad: (2002)

Effects of protein phosphorylation on the sulphonylurea receptor of the pancreatic beta-cell.
av: Niki, I, et al.
Publicerad: (1997)

Interactions between nicorandil and sulphonylureas: a structural basis.
av: Reimann, F, et al.
Publicerad: (2001)

Binding of sulphonylureas to plasma proteins – a KATP channel perspective
av: Proks, P, et al.
Publicerad: (2018)

Binding of sulphonylureas to plasma proteins - A KATP channel perspective.
av: Peter Proks, et al.
Publicerad: (2018-01-01)

Involvement of the n-terminus of Kir6.2 in coupling to the sulphonylurea receptor.
av: Reimann, F, et al.
Publicerad: (1999)

Promiscuous coupling between the sulphonylurea receptor and inwardly rectifying potassium channels.
av: Ammälä, C, et al.
Publicerad: (1996)