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Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 1, p. 205, doi. 10.1172/JCI46425
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- Publication type:
- Article
Analysis of the co-operative interaction between the allosterically regulated proteins GK and GKRP using tryptophan fluorescence.
- Published in:
- Biochemical Journal, 2014, v. 459, n. 3, p. 551, doi. 10.1042/BJ20131363
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- Publication type:
- Article
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.
- Published in:
- EMBO Reports, 2005, v. 6, n. 5, p. 470, doi. 10.1038/sj.embor.7400393
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- Publication type:
- Article
Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.51503
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- Publication type:
- Article
Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci.
- Published in:
- eLife, 2018, p. 1, doi. 10.7554/eLife.31977
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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
Reclassification of diabetes etiology in a family with multiple diabetes phenotypes.
- Published in:
- 2014
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- Publication type:
- journal article
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
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
A Panel of Diverse Assays to Interrogate the Interaction between Glucokinase and Glucokinase Regulatory Protein, Two Vital Proteins in Human Disease.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089335
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- Publication type:
- Article
The miRNA Profile of Human Pancreatic Islets and Beta- Cells and Relationship to Type 2 Diabetes Pathogenesis.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055272
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- Publication type:
- Article
Metabolic Profiling in Maturity-Onset Diabetes of the Young (MODY) and Young Onset Type 2 Diabetes Fails to Detect Robust Urinary Biomarkers.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040962
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- Publication type:
- Article
Identification and Functional Characterisation of Novel Glucokinase Mutations Causing Maturity-Onset Diabetes of the Young in Slovakia.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034541
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- Publication type:
- Article
Low Frequency Variants in the Exons Only Encoding Isoform A of HNF1A Do Not Contribute to Susceptibility to Type 2 Diabetes.
- Published in:
- PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006615
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- Publication type:
- Article
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
- Published in:
- 2007
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- Publication type:
- journal article
Permanent Neonatal Diabetes due to Paternal Germline Mosaicism for an Activating Mutation of the KCNJ11 Gene Encoding the Kir6.2 Subunit of the β-Cell Potassium Adenosine Triphosphate Channel.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 8, p. 3932, doi. 10.1210/jc.2004-0568
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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
Maturity onset diabetes of the young due to HNF1A variants in Croatia.
- Published in:
- Biochemia Medica, 2018, v. 28, n. 2, p. 1, doi. 10.11613/BM.2018.020703
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- Publication type:
- Article
Heterogeneity of increased biological age in type 2 diabetes correlates with differential tissue DNA methylation, biological variables, and pharmacological treatments.
- Published in:
- GeroScience, 2024, v. 46, n. 2, p. 2441, doi. 10.1007/s11357-023-01009-8
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- Publication type:
- Article
Monogenic diabetes: a gateway to precision medicine in diabetes.
- Published in:
- 2021
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- Publication type:
- journal article
Isocitrate-to-SENP1 signaling amplifies insulin secretion and rescues dysfunctional β cells.
- Published in:
- 2015
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- Publication type:
- journal article
An Atlas of Variant Effects to understand the genome at nucleotide resolution.
- Published in:
- 2023
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- Publication type:
- Editorial
A comprehensive map of human glucokinase variant activity.
- Published in:
- Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02935-8
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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
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
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
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
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
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
- Published in:
- 2003
- By:
- 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
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
- By:
- 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
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
Update on mutations in glucokinase ( GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
- Published in:
- 2009
- By:
- Publication type:
- Other
Update of mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub> channel subunits Kir6.2 ( KCNJ11) and sulfonylurea receptor 1 ( ABCC8) in diabetes mellitus and hyperinsulinism.
- Published in:
- 2009
- By:
- Publication type:
- Other
Mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub> channel subunits Kir6.2 ( KCNJ11) and SUR1 ( ABCC8) in diabetes mellitus and hyperinsulinism.
- Published in:
- 2006
- By:
- Publication type:
- Other