Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis (Q33733949)

29 July 2017

title

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

1 reference

29 July 2017

1 reference

Ildem Akerman

3

0 references

Carlos Castaño

Carlos Castaño

29

0 references

Rosa Martínez

Rosa Martínez

28

0 references

Jorge Ferrer

Jorge Ferrer

37

0 references

Klemens Raile

Klemens Raile

32

0 references

Zdeněk Šumník

Zdenek Sumnik

Guiomar Perez de Nanclares

21

0 references

Guiomar Perez de Nanclares

38

0 references

Luis Castaño

Luis Castaño

35

0 references

Noel G Morgan

Noel Morgan

33

0 references

Sarah Flanagan

Sarah E Flanagan

27

0 references

Sian Ellard

Sian Ellard

36

0 references

Andrew Tym Hattersley

39

Andrew T Hattersley

1 reference

29 July 2017

1

Intza Garin

1 reference

ORCID Public Data File 2021

29 July 2017

1 reference

author name string

Emma L Edghill

2

1 reference

29 July 2017

Oscar Rubio-Cabezas

4

1 reference

29 July 2017

Itxaso Rica

5

1 reference

29 July 2017

Jonathan M Locke

6

1 reference

29 July 2017

Miguel Angel Maestro

7

1 reference

29 July 2017

Adnan Alshaikh

8

1 reference

29 July 2017

Ruveyde Bundak

9

1 reference

29 July 2017

Gabriel del Castillo

10

1 reference

29 July 2017

Asma Deeb

11

1 reference

29 July 2017

Dorothee Deiss

12

1 reference

29 July 2017

Juan M Fernandez

13

1 reference

29 July 2017

Koumudi Godbole

14

1 reference

29 July 2017

Khalid Hussain

15

1 reference

29 July 2017

Michele O'Connell

16

1 reference

29 July 2017

Thomasz Klupa

17

1 reference

29 July 2017

Stanislava Kolouskova

18

1 reference

29 July 2017

Fauzia Mohsin

19

1 reference

29 July 2017

Kusiel Perlman

20

1 reference

29 July 2017

Jose M Rial

22

1 reference

29 July 2017

Estibaliz Ugarte

23

1 reference

29 July 2017

Thiruvengadam Vasanthi

24

1 reference

29 July 2017

Neonatal Diabetes International Group

25

1 reference

29 July 2017

Karen Johnstone

26

1 reference

29 July 2017

Ann-Marie Patch

30

1 reference

29 July 2017

Eduardo Fernández-Rebollo

31

1 reference

29 July 2017

Lorna W Harries

34

1 reference

29 July 2017

language of work or name

English

0 references

publication date

28 January 2010

1 reference

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

29 July 2017

published in

1 reference

29 July 2017

volume

107

1 reference

29 July 2017

issue

7

1 reference

29 July 2017

page(s)

3105-3110

1 reference

Transcription factor Glis3, a novel critical player in the regulation of pancreatic beta-cell development and insulin gene expression

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Insulin gene mutations as a cause of permanent neonatal diabetes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Targeted deletion of a cis-regulatory region reveals differential gene dosage requirements for Pdx1 in foregut organ differentiation and pancreas formation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Glucagon-like peptide-1 stimulates human insulin promoter activity in part through cAMP-responsive elements that lie upstream and downstream of the transcription start site

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Relative contribution of PDX-1, MafA and E47/beta2 to the regulation of the human insulin promoter

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Members of the large Maf transcription family regulate insulin gene transcription in islet beta cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Identification of beta-cell-specific insulin gene transcription factor RIPE3b1 as mammalian MafA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Regulation of insulin gene transcription

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Control of insulin mRNA stability in rat pancreatic islets. Regulatory role of a 3'-untranslated region pyrimidine-rich sequence

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Translational regulation of proinsulin biosynthesis and proinsulin conversion in the pancreatic beta-cell

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

A novel glucose-responsive element in the human insulin gene functions uniquely in primary cultured islets

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Phenotypic alterations in insulin-deficient mutant mice.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Glucose-induced transcription of the insulin gene is mediated by factors required for beta-cell-type-specific expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Tissue-specific regulation of the insulin gene by a novel basic helix-loop-helix transcription factor

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

The insulin gene promoter. A simplified nomenclature.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Insulin biosynthesis. I. On the mechanism of glucose stimulation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

A mutational analysis of the insulin gene transcription control region: expression in beta cells is dependent on two related sequences within the enhancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Positive and negative regulation of the human insulin gene by multiple trans-acting factors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

c-Jun represses the human insulin promoter activity that depends on multiple cAMP response elements

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840338

Advances in male contraception

28 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910533107

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910533107

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

https://api.crossref.org/works/10.1073%2FPNAS.0910533107

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910533107

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

https://api.crossref.org/works/10.1073%2FPNAS.0910533107

Comparative analysis of insulin gene promoters: implications for diabetes research

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910533107

Cooperativity between the preproinsulin mRNA untranslated regions is necessary for glucose-stimulated translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910533107

Proinsulin maturation, misfolding, and proteotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910533107

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910533107

Human Krüppel-like factor 11 inhibits human proinsulin promoter activity in pancreatic beta cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910533107

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0910533107

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/10.1073%2FPNAS.0910533107

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

21 January 2018

1 reference

12 December 2020

A cis-element in the 5' untranslated region of the preproinsulin mRNA (ppIGE) is required for glucose regulation of proinsulin translation

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

Neonatal diabetes mellitus

1 reference

12 December 2020

Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes

1 reference

12 December 2020

Permanent diabetes mellitus in the first year of life

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0910533107

1 reference

29 July 2017

0 references

1 reference

29 July 2017

1 reference