(Q33688645)

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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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

endoplasmic reticulum

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1 reference

based on heuristic

inferred from title

Philippe Froguel

15

object named as

Philippe Froguel

0 references

Andrei I Tarasov

object named as

Andrei I Tarasov

8

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Amélie Bonnefond

object named as

Amélie Bonnefond

6

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Oluf Borbye Pedersen

object named as

Oluf Pedersen

11

0 references

16

object named as

Guy A Rutter

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Gargi Meur

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Albane Simon

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Nasret Harun

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Marie Virally

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Aurélie Dechaume

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Sabrina Fetita

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Pierre-Jean Guillausseau

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Trine Welløv Boesgaard

10

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Torben Hansen

12

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Michel Polak

13

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Jean-François Gautier

14

1 reference

Europe PubMed Central

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28 July 2017

Martine Vaxillaire

17

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Europe PubMed Central

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28 July 2017

language of work or name

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publication date

10 December 2009

1 reference

Europe PubMed Central

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28 July 2017

1 reference

Europe PubMed Central

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28 July 2017

59

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Europe PubMed Central

PubMed publication ID

28 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

653-661

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

copyright license

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

27 August 2021

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

Chop deletion reduces oxidative stress, improves beta cell function, and promotes cell survival in multiple mouse models of diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

Initiation and execution of lipotoxic ER stress in pancreatic beta-cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

The unfolded protein response: a pathway that links insulin demand with beta-cell failure and diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

Differential activation of ER stress and apoptosis in response to chronically elevated free fatty acids in pancreatic beta-cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

Proinsulin maturation, misfolding, and proteotoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

Insulin gene mutations as a cause of permanent neonatal diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

Signal integration in the endoplasmic reticulum unfolded protein response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

Mechanisms of pancreatic beta-cell death in type 1 and type 2 diabetes: many differences, few similarities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

Roles of CHOP/GADD153 in endoplasmic reticulum stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

The structure of T6 human insulin at 1.0 A resolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

Translational control in the endoplasmic reticulum stress response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

Analysis of the distribution of charged residues in the N-terminal region of signal sequences: implications for protein export in prokaryotic and eukaryotic cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

Identification of a mutant human insulin predicted to contain a serine-for-phenylalanine substitution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

Signal sequences. The limits of variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

Establishment of a pancreatic beta cell line that retains glucose-inducible insulin secretion: special reference to expression of glucose transporter isoforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

30 October 2018

Multiple forms of "kiss-and-run" exocytosis revealed by evanescent wave microscopy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

30 October 2018

Three mutant insulins in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

30 October 2018

Mutation screening in 18 Caucasian families suggest the existence of other MODY genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828668

30 October 2018

Mitochondrial localization as a determinant of capacitative Ca2+ entry in HeLa cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/20007936

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Insulin mutations in diabetes: the clinical spectrum

1 reference

https://pubmed.ncbi.nlm.nih.gov/20007936

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.2337/DB09-1091

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

release_2rbjufiz5vf7pmcjax7f5hmue4

1 reference

https://api.fatcat.wiki/v0/release/2rbjufiz5vf7pmcjax7f5hmue4

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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