Genetics and pathophysiology of neonatal diabetes mellitus (Q27865274)

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

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2

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158-69

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3

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cites work

1 reference

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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

20 March 2017

1 reference

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Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

20 March 2017

1 reference

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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

20 March 2017

1 reference

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Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

20 March 2017

1 reference

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Mutations in PTF1A cause pancreatic and cerebellar agenesis

20 March 2017

1 reference

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Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM

20 March 2017

1 reference

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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

20 March 2017

1 reference

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Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

20 March 2017

1 reference

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Intensive blood-glucose control with sulphonylureas or insulin compared with conventional treatment and risk of complications in patients with type 2 diabetes (UKPDS 33). UK Prospective Diabetes Study (UKPDS) Group

20 March 2017

1 reference

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The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes

20 March 2017

1 reference

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The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas

20 March 2017

1 reference

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Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival

20 March 2017

1 reference

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The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes

20 March 2017

1 reference

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Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities

29 September 2017

1 reference

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Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV).

29 September 2017

1 reference

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Neonatal diabetes mellitus: a model for personalized medicine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Discovery, structure-activity relationships, pharmacokinetics, and efficacy of glucokinase activator (2R)-3-cyclopentyl-2-(4-methanesulfonylphenyl)-N-thiazol-2-yl-propionamide (RO0281675).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency

29 September 2017

1 reference

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Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Update in neonatal diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Misfolded proinsulin affects bystander proinsulin in neonatal diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Medicinal chemistry approaches for glucokinase activation to treat type 2 diabetes

29 September 2017

1 reference

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Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Genetics of type 1A diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Diagnosis and treatment of neonatal diabetes: a United States experience

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Reduction of Ptf1a gene dosage causes pancreatic hypoplasia and diabetes in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: report of 4 more cases and a review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Insulin gene mutations as a cause of permanent neonatal diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Peroxisome proliferator-activated receptor gamma is a Zac target gene mediating Zac antiproliferation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Pancreatic Duodenal Homeobox (PDX-1) in health and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Transient neonatal diabetes, a disorder of imprinting.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Aetiopathology and genetic basis of neonatal diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Tissue-specific regulation of the insulin gene by a novel basic helix-loop-helix transcription factor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.

2 June 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Dominant-Negative Effects of a Novel Mutated Ins2 Allele Causes Early-Onset Diabetes and Severe -Cell Loss in Munich Ins2C95S Mutant Mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Neonatal diabetes mellitus due to complete glucokinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

A small-molecule glucokinase activator lowers blood glucose in the sulfonylurea-desensitized rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

A murine model of neonatal diabetes mellitus in Glis3-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Molecular basis of neonatal diabetes in Japanese patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Glibenclamide treatment in relapsed transient neonatal diabetes as a result of a KCNJ11 activating mutation (N48D).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Genetic Testing in Diabetes Mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Glibenclamide controls ketosis-prone diabetes in a 38-year-old woman with Kir6.2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.2040-1124.2011.00106.X

Familial permanent neonatal diabetes with KCNJ11 mutation and the response to glyburide therapy--a three-year follow-up.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Misfolded proinsulin accumulates in expanded pre-Golgi intermediates and endoplasmic reticulum subdomains in pancreatic beta cells of Akita mice

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014912

Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes

27 November 2018

1 reference

12 December 2020

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

1 reference

12 December 2020

HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months

1 reference

12 December 2020

Letter Re: Neonatal diabetes mellitus and mutation in the HNF-1beta gene

1 reference

12 December 2020

HLA-DRB1 and DQB1 genotypes in patients with insulin-dependent neonatal diabetes mellitus. A study of 13 cases

1 reference

12 December 2020

ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children

1 reference

12 December 2020

An imprinted gene(s) for diabetes?

1 reference

12 December 2020

Neonatal diabetes in a child positive for islet cell antibodies at onset and Kir6.2 activating mutation

1 reference

12 December 2020

Islet-specific antibody seroconversion in patients with long duration of permanent neonatal diabetes caused by mutations in the KCNJ11 gene

1 reference

12 December 2020

Permanent diabetes mellitus in the first year of life

1 reference

12 December 2020

10.1111/J.2040-1124.2011.00106.X

Identifiers

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2596627

2596627

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