KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
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The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in ChinaATP-sensitive potassium channelopathies: focus on insulin secretionNeonatal diabetes mellitus: a model for personalized medicinePermanent diabetes during the first year of life: multiple gene screening in 54 patientsPhenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene.Acute sulfonylurea therapy at disease onset can cause permanent remission of KATP-induced diabetes.Successful sulfonylurea treatment of an insulin-naïve neonate with diabetes mellitus due to a KCNJ11 mutationGenetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a reviewA Conserved Residue Cluster That Governs Kinetics of ATP-dependent Gating of Kir6.2 Potassium ChannelsMinimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live birthsMonogenic models: what have the single gene disorders taught us?A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complicationsDefining the genetic aetiology of monogenic diabetes can improve treatment.Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.Association of TRPC1 gene polymorphisms with type 2 diabetes and diabetic nephropathy in Han Chinese population.Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.Diagnosis and treatment of neonatal diabetes: a United States experienceDEND mutation in Kir6.2 (KCNJ11) reveals a flexible N-terminal region critical for ATP-sensing of the KATP channel.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.RNA processing and mRNA surveillance in monogenic diabetes.Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options.Diabetes induced by gain-of-function mutations in the Kir6.1 subunit of the KATP channel.Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.An Isogenic Human ESC Platform for Functional Evaluation of Genome-wide-Association-Study-Identified Diabetes Genes and Drug Discovery.Secondary consequences of beta cell inexcitability: identification and prevention in a murine model of K(ATP)-induced neonatal diabetes mellitus.Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic K(ATP) channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits.Improved diabetic control during oral sulfonylurea treatment in two children with permanent neonatal diabetes mellitus.Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation.Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide.Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.[Neonatal diabetes mellitus].Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 MutationKir2.1 is important for efficient BMP signaling in mammalian face development.Permanent neonatal diabetes with arthrogryposis multiplex congenita and neurogenic bladder - a new syndrome?
P2860
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P2860
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
@en
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
@nl
type
label
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
@en
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
@nl
prefLabel
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
@en
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
@nl
P2093
P2860
P50
P356
P1433
P1476
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
@en
P2093
Antonino Crinó
Bruno Pasquino
Dario Iafusco
Early Onset Diabetes Study Gro ...... Endocrinology and Diabetology
Elena D'Amato
Francesco Dammacco
Franco Cerutti
Franco Meschi
Gianfranco Bottazzo
Giorgio Tonini
P2860
P356
10.1002/HUMU.20124
P577
2005-01-01T00:00:00Z