Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment - Test2 - elhamkhani - TriplyDB

Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment

Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment

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New insights from monogenic diabetes for "common" type 2 diabetes Prioritizing Environmental Chemicals for Obesity and Diabetes Outcomes Research: A Screening Approach Using ToxCast™ High-Throughput Data Transgenic zebrafish model of the C43G human insulin gene mutation Neonatal Diabetes: Case Report of a 9-Week-Old Presenting Diabetic Ketoacidosis Due to an Activating ABCC8 Gene Mutation.ABCC5 transporter is a novel type 2 diabetes susceptibility gene in European and African American populations.Treatment of transient neonatal diabetes mellitus: insulin pump or insulin glargine? Our experience.Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons Perk gene dosage regulates glucose homeostasis by modulating pancreatic β-cell functions.Beta-cell destruction and preservation in childhood and adult onset type 1 diabetes.Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation.Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism.Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach Metabolic disruption in context: Clinical avenues for synergistic perturbations in energy homeostasis by endocrine disrupting chemicals Gene-environment and gene-treatment interactions in type 2 diabetes: progress, pitfalls, and prospects Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.Diabetes mellitus due to the toxic misfolding of proinsulin variants.Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder Pharmacogenetics in type 2 diabetes: precision medicine or discovery tool?Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls A Novel Approach to the Management of Neonatal Diabetes Using Sensor-Augmented Insulin Pump Therapy With Threshold Suspend Technology at Diagnosis.Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up.Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3.Hypoglycemia in sulfonylurea-treated KCNJ11-neonatal diabetes: Mild-moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures.Neonatal diabetes mellitus: improved screening and early management of an underestimated disease.Human leucocyte antigens class II allele and haplotype association with Type 1 Diabetes in Madeira Island (Portugal).FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.Short stature in child with early-onset diabetes.The protein kinase PERK/EIF2AK3 regulates proinsulin processing not via protein synthesis but by controlling endoplasmic reticulum chaperones.Early Intensive Insulin Use May Preserve β-Cell Function in Neonatal Diabetes Due to Mutations in the Proinsulin Gene.

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Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment

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2011 nî lūn-bûn

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2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment

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S11892-011-0234-7

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Current diabetes report

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Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment

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Graeme I. Bell

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Louis H. Philipson

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Rochelle N. Naylor

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Siri Atma W. Greeley

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P2860

Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism

Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic development

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

PAX6 mutation as a genetic factor common to aniridia and glucose intolerance

Rfx6 directs islet formation and insulin production in mice and humans

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Mutations in PTF1A cause pancreatic and cerebellar agenesis

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s11892-011-0234-7

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scholarly article

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10.1007/S11892-011-0234-7

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6

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11

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51714062

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1018624966

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21993633

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3226065

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