(Q35031648)

5 August 2017

title

Permanent diabetes during the first year of life: multiple gene screening in 54 patients (English)

1 reference

5 August 2017

S Brescianini

3

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Carla Bizzarri

C Bizzarri

5

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Fabrizio Barbetti

F Barbetti

19

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Lorenzo Iughetti

L Iughetti

10

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Francesco Cerutti

7

F Cerutti

1 reference

5 August 2017

L Russo

1

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5 August 2017

D Iafusco

2

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5 August 2017

V Nocerino

4

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5 August 2017

S Toni

6

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5 August 2017

C Monciotti

8

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5 August 2017

R Pesavento

9

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5 August 2017

L Bernardini

11

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5 August 2017

R Bonfanti

12

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5 August 2017

L Gargantini

13

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5 August 2017

M Vanelli

14

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5 August 2017

L Aguilar-Bryan

15

1 reference

5 August 2017

M A Stazi

16

1 reference

5 August 2017

V Grasso

17

1 reference

5 August 2017

C Colombo

18

1 reference

5 August 2017

ISPED Early Diabetes Study Group

20

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5 August 2017

publication date

10 March 2011

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5 August 2017

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5 August 2017

volume

54

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5 August 2017

issue

7

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5 August 2017

page(s)

1693-1701

1 reference

https://scigraph.springernature.com/pub.10.1007/s00125-011-2094-8

5 August 2017

exact match

0 references

cites work

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Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

8 July 2018

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Rfx6 directs islet formation and insulin production in mice and humans

8 July 2018

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

Defective secretion of islet hormones in chromogranin-B deficient mice

8 July 2018

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

8 July 2018

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8 July 2018

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8 July 2018

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Detailed transcriptome atlas of the pancreatic beta cell

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

Diagnosis and treatment of neonatal diabetes: a United States experience

8 July 2018

1 reference

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

Insulin gene mutations as a cause of permanent neonatal diabetes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

Regulation of insulin biosynthesis in pancreatic beta cells by an endoplasmic reticulum-resident protein kinase IRE1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

Mutant neurogenin-3 in congenital malabsorptive diarrhea

8 July 2018

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Mutations in PTF1A cause pancreatic and cerebellar agenesis

8 July 2018

1 reference

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Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

Isoform-specific regulation of mood behavior and pancreatic beta cell and cardiovascular function by L-type Ca 2+ channels

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

Long-term course of neonatal diabetes.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.

8 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2094-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2094-8

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/10.1007%2FS00125-011-2094-8

Neonatal diabetes mellitus due to complete glucokinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2094-8

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2094-8

Characterization of the abnormal pancreatic development, reduced growth and infertility in Cdk4 mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2094-8

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2094-8

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2094-8

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2094-8

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2094-8

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/10.1007%2FS00125-011-2094-8

Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-011-2094-8

Homeobox gene Nkx6.1 lies downstream of Nkx2.2 in the major pathway of beta-cell formation in the pancreas.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110270

Mutations in IAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood-onset diabetes

25 October 2018

1 reference

12 December 2020

Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene

1 reference

12 December 2020

SlC30A8 is a major target of humoral autoimmunity in type 1 diabetes and a predictive marker in prediabetes

1 reference

12 December 2020

Neonatal diabetes mellitus

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

Permanent diabetes mellitus in the first year of life

1 reference

12 December 2020

10.1007/S00125-011-2094-8

Identifiers

DOI

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5 August 2017

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5 August 2017

1 reference