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The pancreatic β cell: recent insights from human genetics
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
24986330
retrieved
2 August 2017
title
The pancreatic β cell: recent insights from human genetics
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
24986330
retrieved
2 August 2017
main subject
human genetics
1 reference
based on heuristic
inferred from title
author
Soren K Thomsen
object named as
Soren K Thomsen
series ordinal
1
0 references
Anna Gloyn
object named as
Anna L Gloyn
series ordinal
2
0 references
publication date
28 June 2014
1 reference
stated in
Europe PubMed Central
PubMed ID
24986330
retrieved
2 August 2017
published in
Trends in Endocrinology and Metabolism
1 reference
stated in
Europe PubMed Central
PubMed ID
24986330
retrieved
2 August 2017
volume
25
1 reference
stated in
Europe PubMed Central
PubMed ID
24986330
retrieved
2 August 2017
issue
8
1 reference
stated in
Europe PubMed Central
PubMed ID
24986330
retrieved
2 August 2017
page(s)
425-434
1 reference
stated in
Europe PubMed Central
PubMed ID
24986330
retrieved
2 August 2017
cites work
Zinc transporter 8 (ZnT8) and β cell function
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Genome-wide DNA methylation analysis of human pancreatic islets from type 2 diabetic and non-diabetic donors identifies candidate genes that influence insulin secretion
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7 July 2018
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
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PubMed Central
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7 July 2018
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
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PubMed Central
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7 July 2018
Searching for missing heritability: designing rare variant association studies
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PubMed Central
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7 July 2018
Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants
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Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
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Epigenetic regulation of the DLK1-MEG3 microRNA cluster in human type 2 diabetic islets.
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7 July 2018
KCNQ1 long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia
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7 July 2018
Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity
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7 July 2018
Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes
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7 July 2018
β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome
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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
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Identification of genetic variants that affect histone modifications in human cells
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Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription
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7 July 2018
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants
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7 July 2018
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7 July 2018
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
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7 July 2018
iPSC-derived β cells model diabetes due to glucokinase deficiency
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7 July 2018
Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome
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7 July 2018
Animal models of GWAS-identified type 2 diabetes genes
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7 July 2018
Strong parent-of-origin effects in the association of KCNQ1 variants with type 2 diabetes in American Indians
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7 July 2018
Selective inhibition of tumor oncogenes by disruption of super-enhancers
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7 July 2018
Master transcription factors and mediator establish super-enhancers at key cell identity genes
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7 July 2018
The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis
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PubMed Central
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7 July 2018
Multiplex genome engineering using CRISPR/Cas systems
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PubMed Central
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7 July 2018
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion
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PubMed Central
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7 July 2018
Diabetes risk gene and Wnt effector Tcf7l2/TCF4 controls hepatic response to perinatal and adult metabolic demand
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PubMed Central
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7 July 2018
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency
1 reference
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PubMed Central
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7 July 2018
Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Human β cell transcriptome analysis uncovers lncRNAs that are tissue-specific, dynamically regulated, and abnormally expressed in type 2 diabetes
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Regulation of insulin secretion in human pancreatic islets
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
TCF7L2 rs7903146 impairs islet function and morphology in non-diabetic individuals
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
retrieved
7 July 2018
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
retrieved
7 July 2018
The physiological effects of deleting the mouse SLC30A8 gene encoding zinc transporter-8 are influenced by gender and genetic background
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
A systems genetics approach identifies genes and pathways for type 2 diabetes in human islets
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Reduced insulin exocytosis in human pancreatic β-cells with gene variants linked to type 2 diabetes
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Diabetes mellitus and the β cell: the last ten years
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
DNA methylation profiling identifies epigenetic dysregulation in pancreatic islets from type 2 diabetic patients
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
GATA6 haploinsufficiency causes pancreatic agenesis in humans
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
GLUT2 (SLC2A2) is not the principal glucose transporter in human pancreatic beta cells: implications for understanding genetic association signals at this locus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
A genetically engineered human pancreatic β cell line exhibiting glucose-inducible insulin secretion
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Globalization of diabetes: the role of diet, lifestyle, and genes
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Deep resequencing reveals excess rare recent variants consistent with explosive population growth
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Genome-wide analysis of histone modifications in human pancreatic islets
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Rfx6 directs islet formation and insulin production in mice and humans
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
A map of open chromatin in human pancreatic islets
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Cyclin D2 is essential for the compensatory beta-cell hyperplastic response to insulin resistance in rodents
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Parental origin of sequence variants associated with complex diseases
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Finding the missing heritability of complex diseases
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Generation of pluripotent stem cells from patients with type 1 diabetes
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Insulin crystallization depends on zinc transporter ZnT8 expression, but is not required for normal glucose homeostasis in mice.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation.
1 reference
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PubMed Central
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7 July 2018
Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variants
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Deletion of the mouse Slc30a8 gene encoding zinc transporter-8 results in impaired insulin secretion
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
retrieved
7 July 2018
TCF7L2 regulates late events in insulin secretion from pancreatic islet beta-cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Variants in MTNR1B influence fasting glucose levels
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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7 July 2018
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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27 October 2018
A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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27 October 2018
Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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27 October 2018
Abnormal glucose tolerance and insulin secretion in pancreas-specific Tcf7l2-null mice.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
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27 October 2018
A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
retrieved
27 October 2018
Beta cell-specific Znt8 deletion in mice causes marked defects in insulin processing, crystallisation and secretion.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
retrieved
27 October 2018
GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
retrieved
27 October 2018
Heritability and familiality of type 2 diabetes and related quantitative traits in the Botnia Study
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229643
retrieved
27 October 2018
Identifiers
DOI
10.1016/J.TEM.2014.05.001
1 reference
stated in
Europe PubMed Central
PubMed ID
24986330
retrieved
2 August 2017
PMCID
4229643
1 reference
stated in
Europe PubMed Central
PubMed ID
24986330
retrieved
2 August 2017
PubMed ID
24986330
1 reference
stated in
Europe PubMed Central
PubMed ID
24986330
retrieved
2 August 2017
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