Cargando…

The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

In infants, especially with novel previously undescribed mutations of the K(ATP) channel causing neonatal diabetes, in vitro studies can be used to both predict the response to sulphonylurea treatment and support a second trial of glibenclamide at higher than standard doses if the expected response...

Descripción completa

Detalles Bibliográficos
Autores principales:	O'Connell, Susan M, Proks, Peter, Kramer, Holger, Mattis, Katia K, Sachse, Gregor, Joyce, Caroline, Houghton, Jayne A L, Ellard, Sian, Hattersley, Andrew T, Ashcroft, Frances M, O'Riordan, Stephen M P
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Ltd 2015
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614663/ https://www.ncbi.nlm.nih.gov/pubmed/26509030 http://dx.doi.org/10.1002/ccr3.370

Ejemplares similares

Sulfonylureas suppress the stimulatory action of Mg-nucleotides on Kir6.2/SUR1 but not Kir6.2/SUR2A K(ATP) channels: A mechanistic study
por: Proks, Peter, et al.
Publicado: (2014)

Mutations within the P-Loop of Kir6.2 Modulate the Intraburst Kinetics of the Atp-Sensitive Potassium Channel
por: Proks, Peter, et al.
Publicado: (2001)

Phenotype of a transient neonatal diabetes point mutation (SUR1-R1183W) in mice
por: Sachse, Gregor, et al.
Publicado: (2021)

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism
por: Shimomura, Kenju, et al.
Publicado: (2009)

A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications
por: Tammaro, P., et al.
Publicado: (2008)

Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk
por: Vedovato, Natascia, et al.
Publicado: (2016)

Running out of time: the decline of channel activity and nucleotide activation in adenosine triphosphate-sensitive K-channels
por: Proks, Peter, et al.
Publicado: (2016)

Correction to ‘Running out of time: the decline of channel activity and nucleotide activation in adenosine triphosphate-sensitive K-channels’
por: Proks, Peter, et al.
Publicado: (2016)

Equivalent Impedance Models for Electrochemical Nanosensor-Based Integrated System Design
por: Wang, Zhongzheng, et al.
Publicado: (2021)

Mutations of the Same Conserved Glutamate Residue in NBD2 of the Sulfonylurea Receptor 1 Subunit of the K(ATP) Channel Can Result in Either Hyperinsulinism or Neonatal Diabetes
por: Männikkö, Roope, et al.
Publicado: (2011)

PIP(2)-Binding Site in Kir Channels: Definition by Multiscale Biomolecular Simulations
por: Stansfeld, Phillip J., et al.
Publicado: (2009)

How ATP Inhibits the Open K(ATP) Channel
por: Craig, Tim J., et al.
Publicado: (2008)

Activation of the K(ATP) channel by Mg-nucleotide interaction with SUR1
por: Proks, Peter, et al.
Publicado: (2010)

Molecular Mechanism of Sulphonylurea Block of K(ATP) Channels Carrying Mutations That Impair ATP Inhibition and Cause Neonatal Diabetes
por: Proks, Peter, et al.
Publicado: (2013)

An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression
por: Flanagan, Sarah E., et al.
Publicado: (2017)

Simulating PIP(2)-Induced Gating Transitions in Kir6.2 Channels
por: Bründl, Michael, et al.
Publicado: (2021)

Binding of sulphonylureas to plasma proteins – A K(ATP) channel perspective
por: Proks, Peter, et al.
Publicado: (2018)

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
por: De Franco, Elisa, et al.
Publicado: (2015)

Control of Rectification and Gating of Cloned K(ATP) Channels by the Kir6.2 Subunit
por: Shyng, S.-L., et al.
Publicado: (1997)

Molecular Analysis of ATP-sensitive K Channel Gating and Implications for Channel Inhibition by ATP
por: Trapp, Stefan, et al.
Publicado: (1998)

Conference on Becquerel's Legacy: a Century of Radioactivity
por: O'Riordan, M C
Publicado: (1996)

Role of the C‐terminus of SUR in the differential regulation of β‐cell and cardiac K(ATP) channels by MgADP and metabolism
por: Vedovato, Natascia, et al.
Publicado: (2018)

Ligand-induced Closure of Inward Rectifier Kir6.2 Channels Traps Spermine in the Pore
por: Phillips, L. Revell, et al.
Publicado: (2003)

Kir6.2-containing ATP-sensitive K(+) channel is required for cardioprotection of resveratrol in mice
por: Du, Ren-Hong, et al.
Publicado: (2014)

Kir6.2-deficient mice develop somatosensory dysfunction and axonal loss in the peripheral nerves
por: Nakai-Shimoda, Hiromi, et al.
Publicado: (2021)

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes
por: Johnson, Matthew B., et al.
Publicado: (2018)

P.96 Development of effective and safe virtual pre-operative assessment during the Covid-19 pandemic through utilisation of telemedicine: a quality improvement project in a stand-alone maternity hospital
por: O’Riordan, E., et al.
Publicado: (2021)

Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
por: Joyce, Caroline M., et al.
Publicado: (2020)

Coincidence of a Novel KCNJ11 Missense Variant R365H With a Paternally Inherited 6q24 Duplication in a Patient With Transient Neonatal Diabetes
por: Staník, Juraj, et al.
Publicado: (2008)

Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities
por: Rubio-Cabezas, Oscar, et al.
Publicado: (2010)

Structural and Functional Determinants of Conserved Lipid Interaction Domains of Inward Rectifying Kir6.2 Channels
por: Cukras, Catherine A., et al.
Publicado: (2002)

Role of Kir6.2 subunits of ATP-sensitive potassium channels in endotoxemia-induced cardiac dysfunction
por: Yang, Zhong-Wei, et al.
Publicado: (2013)

A family of orthologous proteins from centipede venoms inhibit the hKir6.2 channel
por: Ramu, Yajamana, et al.
Publicado: (2019)

Expression of truncated Kir6.2 promotes insertion of functionally inverted ATP-sensitive K(+) channels
por: Heitz, Benjamin A., et al.
Publicado: (2021)

Stabilization of the Activity of ATP-sensitive Potassium Channels by Ion Pairs Formed between Adjacent Kir6.2 Subunits
por: Lin, Yu-Wen, et al.
Publicado: (2003)

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation
por: Işık, Emregül, et al.
Publicado: (2019)

Evaluating inositol phospholipid interactions with inward rectifier potassium channels and characterising their role in disease
por: Pipatpolkai, Tanadet, et al.
Publicado: (2020)

Reversible changes in pancreatic islet structure and function produced by elevated blood glucose
por: Brereton, Melissa F., et al.
Publicado: (2014)

Introducing a graph topology for robust cooperation
por: Locodi, A. M., et al.
Publicado: (2021)

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes
por: Babiker, Tarig, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_fnuhcfl426bs1adaao3ooe2afe