Insulin gene mutations as a cause of permanent neonatal diabetes (Q36002587)

11 August 2017

Insulin gene mutations as a cause of permanent neonatal diabetes (English)

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11 August 2017

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Jennifer Elizabeth Below

Jennifer E Below

7

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M. Geoffrey Hayes

M Geoffrey Hayes

8

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Sarah Flanagan

Sarah E Flanagan

3

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Sian Ellard

Sian Ellard

14

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Nancy J Cox

9

Nancy J Cox

1 reference

11 August 2017

Andrew Tym Hattersley

16

Andrew T Hattersley

1 reference

11 August 2017

18

Graeme I Bell

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11 August 2017

Julie Støy

1

1 reference

11 August 2017

Emma L Edghill

2

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11 August 2017

Honggang Ye

4

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11 August 2017

Veronica P Paz

5

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11 August 2017

Anna Pluzhnikov

6

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11 August 2017

Gregory M Lipkind

10

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11 August 2017

Rebecca B Lipton

11

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11 August 2017

Siri Atma W Greeley

12

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11 August 2017

Ann-Marie Patch

13

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11 August 2017

Donald F Steiner

15

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11 August 2017

Louis H Philipson

17

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11 August 2017

Neonatal Diabetes International Collaborative Group

19

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11 August 2017

language of work or name

English

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publication date

12 September 2007

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Proceedings of the National Academy of Sciences of the United States of America

11 August 2017

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11 August 2017

104

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11 August 2017

15040-15044

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11 August 2017

38

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PLINK: a tool set for whole-genome association and population-based linkage analyses

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identificati

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

EXtENDINg beta cell survival by UPRegulating ATF4 translation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Neonatal diabetes: how research unravelling the genetic puzzle has both widened our understanding of pancreatic development whilst improving children's quality of life

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Combining information from common type 2 diabetes risk polymorphisms improves disease prediction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Chiral mutagenesis of insulin. Foldability and function are inversely regulated by a stereospecific switch in the B chain

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Proteotoxicity in the endoplasmic reticulum: lessons from the Akita diabetic mouse

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Allegro, a new computer program for multipoint linkage analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Aetiopathology and genetic basis of neonatal diabetes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Cross sectional stature and weight reference curves for the UK, 1990.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Sequence of the human insulin gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

A structurally abnormal insulin causing human diabetes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

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.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

In vitro refolding of human proinsulin. Kinetic intermediates, putative disulfide-forming pathway folding initiation site, and potential role of C-peptide in folding process

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1986609

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

14 November 2018

1 reference

12 December 2020

Chiral mutagenesis of insulin. Contribution of the B20-B23 beta-turn to activity and stability

1 reference

12 December 2020

Toward the active conformation of insulin: stereospecific modulation of a structural switch in the B chain

1 reference

12 December 2020

The folding nucleus of the insulin superfamily: a flexible peptide model foreshadows the native state

1 reference

12 December 2020

GLP-1 receptor activation improves beta cell function and survival following induction of endoplasmic reticulum stress

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

Genetics of type 2 diabetes

1 reference

12 December 2020

Predicted structural alterations in proinsulin during its interactions with prohormone convertases

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0707291104

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11 August 2017

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11 August 2017

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