(Q34284056)

1 August 2017

10 references

13 March 2019

14 March 2019

24 March 2019

20 June 2019

30 June 2019

14 September 2019

17 November 2019

20 November 2019

6 November 2020

6 February 2021

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene (English)

1 reference

Erratum to: Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene

1 August 2017

9 references

13 March 2019

14 March 2019

24 March 2019

20 June 2019

30 June 2019

14 September 2019

17 November 2019

20 November 2019

6 November 2020

10 references

13 March 2019

14 March 2019

24 March 2019

20 June 2019

30 June 2019

14 September 2019

17 November 2019

20 November 2019

6 November 2020

6 February 2021

1 reference

14 September 2019

1 reference

17 November 2019

1 reference

20 November 2019

1 reference

1 reference

6 November 2020

corrigendum / erratum

0 references

6

Graeme I Bell

1 reference

1 August 2017

Julie Støy

1

1 reference

1 August 2017

Donald F Steiner

2

1 reference

1 August 2017

Soo-Young Park

3

1 reference

1 August 2017

Honggang Ye

4

1 reference

1 August 2017

Louis H Philipson

5

1 reference

1 August 2017

language of work or name

1 reference

1 September 2010

11 references

Reviews in Endocrine and Metabolic Disorders

1 August 2017

13 March 2019

14 March 2019

24 March 2019

20 June 2019

30 June 2019

14 September 2019

17 November 2019

20 November 2019

6 November 2020

6 February 2021

11 references

1 August 2017

13 March 2019

14 March 2019

24 March 2019

20 June 2019

30 June 2019

14 September 2019

17 November 2019

20 November 2019

6 November 2020

6 February 2021

11

1 reference

1 August 2017

issue

3

1 reference

1 August 2017

page(s)

205-215

1 reference

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

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Misfolded proinsulin affects bystander proinsulin in neonatal diabetes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Insulin gene mutations as a cause of permanent neonatal diabetes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Chemistry of insulin; determination of the structure of insulin opens the way to greater understanding of life processes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Targeted disruption of the Chop gene delays endoplasmic reticulum stress-mediated diabetes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

A mutation in the insulin 2 gene induces diabetes with severe pancreatic beta-cell dysfunction in the Mody mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mapping

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

A novel point mutation in the insulin gene giving rise to hyperproinsulinemia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Hyperproinsulinemia in a three-generation Caucasian family due to mutant proinsulin (Arg65-His) not associated with imparied glucose tolerance: the contribution of mutant proinsulin to insulin bioactivity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Diabetes due to secretion of an abnormal insulin.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Sequence of the human insulin gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Studies on human proinsulin. Isolation and amino acid sequence of the human pancreatic C-peptide

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Studies of human insulin from nondiabetic and diabetic pancreas.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Insulin biosynthesis: evidence for a precursor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

A new case of abnormal insulinemia with diabetes. Reduced insulin values determined by radioreceptor assay

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Diabetes due to secretion of a structurally abnormal insulin (insulin Wakayama). Clinical and functional characteristics of [LeuA3] insulin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

A mutant human proinsulin is secreted from islets of Langerhans in increased amounts via an unregulated pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Nucleotide sequence of a cDNA clone encoding human preproinsulin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

A structurally abnormal insulin causing human diabetes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Familial hyperproinsulinemia: partial characterization of circulating proinsulin-like material

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

A brief perspective on insulin production

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Probe-independent and direct quantification of insulin mRNA and growth hormone mRNA in enriched cell preparations.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Polymorphisms of the insulin gene among Japanese subjects

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Familial hyperproinsulinemia associated with NIDDM. A case study.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Familial hyperproinsulinemia due to a proposed defect in conversion of proinsulin to insulin.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Familial hyperinsulinemia due to a structurally abnormal insulin. Definition of an emerging new clinical syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2974937

Insulin Wakayama: familial mutant insulin syndrome in Japan

28 October 2018

1 reference

12 December 2020

1 reference

12 December 2020

Measuring the balance between insulin synthesis and insulin release

1 reference

12 December 2020

Amino-Acid Sequence of Human Insulin

1 reference

12 December 2020

Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report

1 reference

12 December 2020

10.1007/S11154-010-9151-3

Identifiers

DOI

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference