In vivo measurement and biological characterisation of the diabetes-associated mutant insulin p.R46Q (GlnB22-insulin). (Q50646974)

17 March 2018

title

In vivo measurement and biological characterisation of the diabetes-associated mutant insulin p.R46Q (GlnB22-insulin). (English)

1 reference

17 March 2018

6

Graeme I Bell

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17 March 2018

author name string

Julie Støy

1

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17 March 2018

Jørgen Olsen

2

1 reference

17 March 2018

Soo-Young Park

3

1 reference

17 March 2018

Søren Gregersen

4

1 reference

17 March 2018

Claudia U Hjørringgaard

5

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17 March 2018

publication date

6 May 2017

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17 March 2018

published in

Diabetologia

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17 March 2018

volume

60

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17 March 2018

issue

8

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17 March 2018

page(s)

1423-1431

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17 March 2018

Insulin gene mutations as a cause of permanent neonatal diabetes

cites work

1 reference

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young

21 January 2018

1 reference

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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

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

21 January 2018

1 reference

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

21 January 2018

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Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse

21 January 2018

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INS-gene mutations: from genetics and beta cell biology to clinical disease

21 January 2018

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Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth

21 January 2018

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Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.

21 January 2018

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Importance of the solvent-exposed residues of the insulin B chain alpha-helix for receptor binding

21 January 2018

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Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity

21 January 2018

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Structural and functional study of the GlnB22-insulin mutant responsible for maturity-onset diabetes of the young

21 January 2018

1 reference

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Protective hinge in insulin opens to enable its receptor engagement

21 January 2018

1 reference

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A novel locus, Mody4, distal to D7Mit189 on chromosome 7 determines early-onset NIDDM in nonobese C57BL/6 (Akita) mutant mice

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28478482

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Enzyme immunoassay for intact human insulin in serum or plasma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28478482

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28478482

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00125-017-4295-2

1 reference

17 March 2018

1 reference

17 March 2018