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The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.
- Published in:
- Diabetologia, 2023, v. 66, n. 1, p. 116, doi. 10.1007/s00125-022-05806-2
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- Publication type:
- Article
Fostering improved human islet research: a European perspective.
- Published in:
- 2019
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- Publication type:
- Letter
Patterns of differential gene expression in a cellular model of human islet development, and relationship to type 2 diabetes predisposition.
- Published in:
- Diabetologia, 2018, v. 61, n. 7, p. 1614, doi. 10.1007/s00125-018-4612-4
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- Publication type:
- Article
Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?
- Published in:
- 2013
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- Publication type:
- journal article
Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?
- Published in:
- British Journal of Pharmacology, 2013, v. 168, n. 2, p. 335, doi. 10.1111/j.1476-5381.2012.02201.x
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- Publication type:
- Article
PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41860-z
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- Publication type:
- Article
Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.
- Published in:
- 2004
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- Publication type:
- journal article
Permanent Neonatal Diabetes due to Mutations in KCNJ11Encoding Kir6.2.
- Published in:
- Diabetes, 2004, v. 53, n. 10, p. 2713, doi. 10.2337/diabetes.53.10.2713
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- Publication type:
- Article
Kir6.2 Mutations Are a Common Cause of Permanent NeonatalDiabetes in a Large Cohort of French Patients.
- Published in:
- Diabetes, 2004, v. 53, n. 10, p. 2719, doi. 10.2337/diabetes.53.10.2719
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- Publication type:
- Article
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
- Published in:
- 2003
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- Publication type:
- journal article
Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.
- Published in:
- 2003
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- Publication type:
- journal article
A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations.
- Published in:
- 2002
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- Publication type:
- journal article
A Putative Functional Polymorphism in the IGF-I Gene.
- Published in:
- Diabetes, 2002, v. 51, n. 7, p. 2313, doi. 10.2337/diabetes.51.7.2313
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- Publication type:
- Article
Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.
- Published in:
- 2002
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- Publication type:
- journal article
Electrophysiological properties of human beta-cell lines EndoC-βH1 and -βH2 conform with human beta-cells.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34743-7
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- Publication type:
- Article
CD39 delineates chimeric antigen receptor regulatory T cell subsets with distinct cytotoxic & regulatory functions against human islets.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1415102
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- Publication type:
- Article
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 24, p. 6432
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- Publication type:
- Article
Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5570, doi. 10.1093/hmg/ddu269
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- Publication type:
- Article
The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 21, p. 4081, doi. 10.1093/hmg/ddp357
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- Publication type:
- Article
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 7, p. 925, doi. 10.1093/hmg/ddi086
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- Publication type:
- Article
Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0628-8
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- Publication type:
- Article
Electrophysiological Characterization of Inducible Pluripotent Stem Cell–Derived Human β-Like Cells and an SLC30A8 Disease Model.
- Published in:
- Diabetes, 2024, v. 73, n. 8, p. 1255, doi. 10.2337/db23-0776
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- Publication type:
- Article
2050-P: A Multiomics Investigation of a Patient-Derived HNF-1A MODY IPSC Disease Model Reveals Insights into Its Role in Pancreatic Islet Development and Function.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-2050-P
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- Publication type:
- Article
3-LB: The Type 2 Diabetes-Associated Transcription Factor RREB1 Affects Beta-Cell Function and Development.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-3-LB
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- Publication type:
- Article
309-OR: Deep Learning Model of Pancreatic Islet Epigenome Refines Association Signals at Type 2 Diabetes Susceptibility Loci.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-309-OR
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- Publication type:
- Article
25-OR: Investigating a Candidate Causal Allele in Type 2 Diabetes Susceptibility Gene PAM as a Cause of Neonatal Diabetes Mellitus.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-25-OR
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- Publication type:
- Article
A Partial Loss-of-Function Variant in Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study.
- Published in:
- 2018
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- Publication type:
- journal article
Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants.
- Published in:
- 2016
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- Publication type:
- journal article
Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans.
- Published in:
- 2016
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- Publication type:
- journal article
Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile.
- Published in:
- Diabetes, 2013, v. 62, n. 4, p. 1329, doi. 10.2337/db12-0880
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- Publication type:
- Article
Insights Into the Molecular Mechanism for Type 2 Diabetes Susceptibility at the KCNQ1 Locus From Temporal Changes in Imprinting Status in Human Islets.
- Published in:
- Diabetes, 2013, v. 62, n. 3, p. 987, doi. 10.2337/db12-0819
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- Publication type:
- Article
Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2.
- Published in:
- Diabetes, 2009, v. 58, n. 12, p. 2954, doi. 10.2337/db09-0787
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- Publication type:
- Article
Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel.
- Published in:
- 2009
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- Publication type:
- journal article
Coexpression of the Type 2 Diabetes Susceptibility Gene Variants KCNJ11 E23K andABCC8 S1369A Alter the ATP and Sulfonylurea Sensitivities of the ATP-Sensitive K<sup>+</sup> Channel.
- Published in:
- Diabetes, 2009, v. 58, n. 10, p. 2419, doi. 10.2337/db09-0143
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- Publication type:
- Article
Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (-71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans.
- Published in:
- Diabetes, 2009, v. 58, n. 8, p. 1929, doi. 10.2337/db09-0070
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- Publication type:
- Article
Type 2 diabetes susceptibility gene TCF7L2 and its role in beta-cell function.
- Published in:
- 2009
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- Publication type:
- journal article
Type 2 Diabetes Susceptibility Gene TCF7L2 and Its Role in β-Cell Function.
- Published in:
- 2009
- By:
- Publication type:
- Opinion
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
- Published in:
- 2007
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- Publication type:
- journal article
Mutations in ATP-Sensitive K[sup +] Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood.
- Published in:
- Diabetes, 2007, v. 56, n. 7, p. 1930, doi. 10.2337/db07-0043
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- Publication type:
- Article
Cell Biology Assessment of Glucokinase Mutations V62M and G72R in Pancreatic β-Cells.
- Published in:
- Diabetes, 2007, v. 56, n. 7, p. 1773, doi. 10.2337/db06-1151
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- Publication type:
- Article
Prevalence and Clinical Characteristics of the Maternally Inherited Mt 3243A>G Mutation Among Young Adult Diabetic Subjects in Sri Lanka.
- Published in:
- Diabetes, 2007, v. 56, p. A300
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- Publication type:
- Article
Assessment of the Role of Common Genetic Variation in the Transient Neonatal Diabetes Mellitus (TNDM) Region in Type 2 Diabetes.
- Published in:
- Diabetes, 2006, v. 55, n. 8, p. 2272, doi. 10.2337/db06-0216
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- Publication type:
- Article
Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 679, doi. 10.1038/sj.ejhg.5201802
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- Publication type:
- Article
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 824, doi. 10.1038/sj.ejhg.5201629
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- Publication type:
- Article
Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants.
- Published in:
- Nature Genetics, 2014, v. 46, n. 2, p. 136, doi. 10.1038/ng.2870
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- Publication type:
- Article
Variation across the allele frequency spectrum.
- Published in:
- Nature Genetics, 2010, v. 42, n. 8, p. 648, doi. 10.1038/ng0810-648
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- Publication type:
- Article
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
- Published in:
- 2010
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- Publication type:
- Correction notice
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
- Published in:
- Nature Genetics, 2010, v. 42, n. 2, p. 105, doi. 10.1038/ng.520
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- Publication type:
- Article
Mutations in PTF1A cause pancreatic and cerebellar agenesis.
- Published in:
- Nature Genetics, 2004, v. 36, n. 12, p. 1301, doi. 10.1038/ng1475
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- Publication type:
- Article
Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 12, p. 1, doi. 10.1371/journal.pgen.1005694
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- Publication type:
- Article