(Q33733949)

29 July 2017

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

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Rosa Martínez

Rosa Martínez

28

0 references

Jorge Ferrer

Jorge Ferrer

37

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Klemens Raile

Klemens Raile

32

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Zdeněk Šumník

Zdenek Sumnik

Guiomar Perez de Nanclares

21

0 references

Guiomar Perez de Nanclares

38

0 references

Luis Castaño

Luis Castaño

35

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Noel G Morgan

Noel Morgan

33

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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

1 reference

29 July 2017

107

1 reference

29 July 2017

7

1 reference

29 July 2017

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

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