Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

CONTEXT: Activating mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic beta-cell K(ATP) channel, result in permanent and transient neonatal diabetes. The majority of KCNJ11 mutations are spontaneous, but the parental origin of these mutations is not known. OBJECTIVE: O...

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Bibliografiska uppgifter
Huvudupphovsmän:	Edghill, E, Gloyn, A, Goriely, A, Harries, L, Flanagan, SE, Rankin, J, Hattersley, A, Ellard, S
Materialtyp:	Journal article
Språk:	English
Publicerad:	2007

Liknande verk

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
av: Flanagan, SE, et al.
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Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
av: Gloyn, A, et al.
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KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
av: Gloyn, A, et al.
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Relapsing diabetes can result from moderately activating mutations in KCNJ11.
av: Gloyn, A, et al.
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Neonatal diabetes caused by homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensititvity markedly affect diabetes risk
av: Vedovato, N, et al.
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Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
av: Flanagan, SE, et al.
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Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.
av: Edghill, E, et al.
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KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
av: Massa, O, et al.
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Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.
av: Tarasov, A, et al.
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Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
av: Flanagan, SE, et al.
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Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
av: Gloyn, A, et al.
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Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007)
av: Flanagan, SE, et al.
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An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.
av: Craig, T, et al.
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Erratum: Mutations in ATP-sensitive K+ cannel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (Diabetes (2007) 56 (1930-1937))
av: Flanagan, SE, et al.
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The extent of K-ATP channel block by MgATP correlates with the clinical phenotype caused by gain-of-function KCNJ11 mutations
av: Proks, R, et al.
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Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.
av: Staník, J, et al.
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Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
av: Shimomura, K, et al.
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Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
av: Sagen, J, et al.
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Management of Neonatal Diabetes due to a KCNJ11 Mutation with Automated Insulin Delivery System and Remote Patient Monitoring
av: Ming Yeh Lee, et al.
Publicerad: (2023-01-01)

Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea‐treated KCNJ11 neonatal diabetes
av: Pamela Bowman, et al.
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A novel mutation KCNJ11 R136C caused KCNJ11-MODY
av: Yaning Chen, et al.
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Neonatal diabetes - The role of KCNJ11 (Kir6.2)
av: Tammaro, P
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Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
av: Ellard, S, et al.
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Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-KATP-channel pathways
av: Pamela Bowman, et al.
Publicerad: (2019-05-01)

Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking
av: McTaggart, J, et al.
Publicerad: (2013)

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.
av: Gloyn, A, et al.
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Permanent neonatal diabetes in an Asian infant.
av: Porter, JR, et al.
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Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
av: Männikkö, R, et al.
Publicerad: (2010)

Large-scale association studies of variants in genes encoding the pancreatic beta-cell K-ATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
av: Gloyn, A, et al.
Publicerad: (2003)

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.
av: Proks, P, et al.
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Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
av: Girard, C, et al.
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Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage
av: Bo Wu, et al.
Publicerad: (2023-03-01)

Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking.
av: James S McTaggart, et al.
Publicerad: (2013-01-01)

Neonatal diabetes due to KCNJ11 pathogenic variant and its associated late risks
av: Gabija Gaidamaviciene, et al.
Publicerad: (2024-12-01)

Challenges in diagnosis and treatment of KCNJ11-MODY
av: Juliana Gonçalves, et al.
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Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels.
av: Tammaro, P, et al.
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Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-up
av: Maja D Ješić, et al.
Publicerad: (2021-06-01)

The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
av: Chakera, A, et al.
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Permanent neonatal diabetes caused by an in-frame deletion in the N-terminus of Kir6.2
av: Craig, T, et al.
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Gestasyonel diyabet gelişiminde KCNJ11 geninin rolü
av: Funda İşcioğlu, et al.
Publicerad: (2015-12-01)