Anna Gloyn
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Endocrinologist and geneticist
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Why Is Anna Gloyn Influential?
(Suggest an Edit or Addition)According to Wikipedia, Anna L Gloyn is a geneticist, who is Professor of Pediatrics and Genetics at the Stanford University. She was the recipient of the Minkowski Prize in 2014 for her research into causal mechanisms of diabetes pathogenesis. Her work has contributed to improved treatment options for people with rare forms of diabetes and helped advance our understanding of type 2 diabetes.
Anna Gloyn's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (2010) (2087)
- Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2010) (1801)
- Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. (2004) (1091)
- Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (1028)
- The genetic architecture of type 2 diabetes (2016) (927)
- 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. (2003) (770)
- Pancreatic islet enhancer clusters enriched in type 2 diabetes risk–associated variants (2013) (462)
- Update on mutations in glucokinase (GCK), which cause maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia (2009) (436)
- Mutations in PTF1A cause pancreatic and cerebellar agenesis (2004) (413)
- Human β cell transcriptome analysis uncovers lncRNAs that are tissue-specific, dynamically regulated, and abnormally expressed in type 2 diabetes. (2012) (378)
- Genetic fine-mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci (2015) (349)
- Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. (2004) (343)
- The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver (2009) (342)
- Global microRNA expression profiles in insulin target tissues in a spontaneous rat model of type 2 diabetes (2010) (288)
- Glucokinase (GCK) mutations in hyper‐ and hypoglycemia: Maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy (2003) (276)
- Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. (2008) (248)
- Update of mutations in the genes encoding the pancreatic beta‐cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism (2009) (237)
- Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. (2004) (231)
- Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype (2006) (222)
- Reduced Insulin Exocytosis in Human Pancreatic β-Cells With Gene Variants Linked to Type 2 Diabetes (2012) (214)
- Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood (2007) (207)
- PTEN mutations as a cause of constitutive insulin sensitivity and obesity in human beings (2012) (204)
- Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes (2011) (197)
- The miRNA Profile of Human Pancreatic Islets and Beta-Cells and Relationship to Type 2 Diabetes Pathogenesis (2013) (191)
- Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. (2004) (189)
- Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation (2015) (188)
- GLUT2 (SLC2A2) is not the principal glucose transporter in human pancreatic beta cells: implications for understanding genetic association signals at this locus. (2011) (188)
- Identification of type 2 diabetes loci in 433,540 East Asian individuals (2019) (188)
- Relapsing diabetes can result from moderately activating mutations in KCNJ11. (2005) (186)
- Association studies of variants in promoter and coding regions of beta‐cell ATP‐sensitive K‐channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53) (2001) (181)
- Role of KATP Channels in Glucose-Regulated Glucagon Secretion and Impaired Counterregulation in Type 2 Diabetes (2013) (180)
- 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. (2002) (160)
- 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 (2015) (159)
- Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. (2003) (154)
- The Trans-Ancestral Genomic Architecture of Glycemic Traits (2020) (151)
- KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes (2005) (143)
- Isocitrate-to-SENP1 signaling amplifies insulin secretion and rescues dysfunctional β cells. (2015) (136)
- KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features (2006) (134)
- Argonaute2 Mediates Compensatory Expansion of the Pancreatic β Cell (2014) (133)
- Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition (2018) (121)
- Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms (2014) (120)
- 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 (2009) (116)
- A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome (2005) (115)
- Comprehensive Human Adipose Tissue mRNA and MicroRNA Endogenous Control Selection for Quantitative Real‐Time‐PCR Normalization (2011) (111)
- Assessment of High-Sensitivity C-Reactive Protein Levels as Diagnostic Discriminator of Maturity-Onset Diabetes of the Young Due to HNF1A Mutations (2010) (109)
- Insights Into the Molecular Mechanism for Type 2 Diabetes Susceptibility at the KCNQ1 Locus From Temporal Changes in Imprinting Status in Human Islets (2013) (106)
- A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes (2011) (105)
- Mutations in the genes encoding the pancreatic beta‐cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism (2006) (103)
- SSTR2 is the functionally dominant somatostatin receptor in human pancreatic β- and α-cells. (2012) (102)
- Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk (2011) (99)
- Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus (2015) (98)
- Insights into the Structure and Regulation of Glucokinase from a Novel Mutation (V62M), Which Causes Maturity-onset Diabetes of the Young* (2005) (97)
- Translational genomics and precision medicine: Moving from the lab to the clinic (2019) (95)
- Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. (2004) (95)
- Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci (2017) (94)
- Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile (2013) (92)
- Precision medicine in the management of type 2 diabetes. (2018) (92)
- The search for type 2 diabetes genes (2003) (90)
- Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation (2020) (88)
- High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes (2011) (87)
- Glucokinase regulatory protein: complexity at the crossroads of triglyceride and glucose metabolism (2015) (87)
- Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. (2008) (82)
- Species-Specific Differences in the Expression of the HNF1A, HNF1B and HNF4A Genes (2009) (79)
- Loss of ZnT8 function protects against diabetes by enhanced insulin secretion (2018) (78)
- Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants (2016) (78)
- Understanding human fetal pancreas development using subpopulation sorting, RNA sequencing and single-cell profiling (2018) (69)
- Insights into pancreatic islet cell dysfunction from type 2 diabetes mellitus genetics (2020) (66)
- Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D (2020) (65)
- The genetics of type 2 diabetes. (2001) (63)
- Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity‐onset diabetes of the young (MODY) (2003) (60)
- Endocrine-Exocrine Signaling Drives Obesity-Associated Pancreatic Ductal Adenocarcinoma (2019) (60)
- Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy (2007) (60)
- Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. (2007) (59)
- Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. (2008) (58)
- Permanent neonatal diabetes in an Asian infant. (2005) (57)
- Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice (2017) (56)
- Type 2 Diabetes Susceptibility Gene TCF7L2 and Its Role in β-Cell Function (2009) (55)
- Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (55)
- 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. (2004) (52)
- Glucokinase and the Regulation of Blood Sugar (2004) (51)
- Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. (2012) (44)
- Evaluation of Serum 1,5 Anhydroglucitol Levels as a Clinical Test to Differentiate Subtypes of Diabetes (2010) (44)
- A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk (2017) (43)
- Monogenic diabetes: a gateway to precision medicine in diabetes. (2021) (43)
- Human islet function following 20 years of cryogenic biobanking (2015) (41)
- Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes (2002) (41)
- 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 (2009) (41)
- Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells (2018) (41)
- Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability (2014) (39)
- Plasma Fucosylated Glycans and C-Reactive Protein as Biomarkers of HNF1A-MODY in Young Adult–Onset Nonautoimmune Diabetes (2018) (39)
- Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans (2015) (38)
- Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data (2018) (34)
- Electrophysiological properties of human beta-cell lines EndoC-βH1 and -βH2 conform with human beta-cells (2018) (33)
- Prioritising Causal Genes at Type 2 Diabetes Risk Loci (2017) (32)
- A role for coding functional variants in HNF4A in type 2 diabetes susceptibility (2010) (32)
- From Genetic Association to Molecular Mechanism (2010) (32)
- Apolipoprotein M can discriminate HNF1A‐MODY from Type 1 diabetes (2013) (32)
- A Partial Loss-of-Function Variant in AKT2 Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study (2017) (31)
- A tale of two glucose transporters: how GLUT2 re-emerged as a contender for glucose transport into the human beta cell (2012) (31)
- TIGER: The gene expression regulatory variation landscape of human pancreatic islets (2021) (30)
- Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia (2008) (29)
- 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-4α (HNF4A) Gene (2002) (28)
- TCF7L2 and diabetes: a tale of two tissues, and of two species. (2013) (28)
- Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity. (2007) (27)
- The pancreatic β cell: recent insights from human genetics (2014) (27)
- Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2 (2009) (27)
- Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation. (2010) (27)
- Variation across the allele frequency spectrum (2010) (27)
- Analysis of Differentiation Protocols Defines a Common Pancreatic Progenitor Molecular Signature and Guides Refinement of Endocrine Differentiation (2019) (27)
- Maturity Onset Diabetes of the Young Type 2 (2004) (26)
- Defining the genetic aetiology of monogenic diabetes can improve treatment (2006) (26)
- Small molecular glucokinase activators: has another new anti‐diabetic therapeutic lost favour? (2013) (26)
- Discovery of a Novel Site Regulating Glucokinase Activity following Characterization of a New Mutation Causing Hyperinsulinemic Hypoglycemia in Humans* (2011) (26)
- Asian MODY: are we missing an important diagnosis? (2006) (26)
- Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2017) (25)
- Mutations in HNF 1 A Result in Marked Alterations of Plasma Glycan Pro fi le (2013) (25)
- Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model (2016) (24)
- Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families (2014) (23)
- From genetic association to molecular mechanisms for islet-cell dysfunction in type 2 diabetes. (2020) (23)
- Identification and Functional Characterisation of Novel Glucokinase Mutations Causing Maturity-Onset Diabetes of the Young in Slovakia (2012) (23)
- Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals (2019) (22)
- The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY (2011) (21)
- Human calcium/calmodulin-dependent protein kinase II gamma gene (CAMK2G): cloning, genomic structure and detection of variants in subjects with Type II diabetes (2002) (21)
- Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Nature Genetics (2010) 42 (105-116)) (2010) (20)
- Analysis of the co-operative interaction between the allosterically regulated proteins GK and GKRP using tryptophan fluorescence (2014) (20)
- Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation (2020) (20)
- Insights Into the Pathogenicity of Rare Missense GCK Variants From the Identification and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in Cis (2012) (19)
- When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes. (2015) (18)
- Maturity onset diabetes of the young due to HNF1A variants in Croatia (2018) (17)
- Human genetics as a model for target validation: finding new therapies for diabetes (2017) (17)
- Metabolic Profiling in Maturity-Onset Diabetes of the Young (MODY) and Young Onset Type 2 Diabetes Fails to Detect Robust Urinary Biomarkers (2012) (17)
- A Multi-omic Integrative Scheme Characterizes Tissues of Action at Loci Associated with Type 2 Diabetes (2020) (17)
- Influence of genetic variants on gene expression in human pancreatic islets – implications for type 2 diabetes (2019) (17)
- Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels (2007) (16)
- Identification and Functional Characterization of G 6 PC 2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G 6 PC 2-ABCB 11 Locus (2015) (16)
- Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach. (2008) (16)
- 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. (2002) (16)
- Monogenic β-cell dysfunction in children: clinical phenotypes, genetic etiology and mutational pathways (2008) (15)
- Erratum: Association studies of variants in promoter and coding regions of beta-cell ATP sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53) (Diabetic Medicine (2001) 18 (206-212)) (2003) (15)
- NKX6.1 induced pluripotent stem cell reporter lines for isolation and analysis of functionally relevant neuronal and pancreas populations. (2018) (15)
- Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2011) (15)
- Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka (2008) (15)
- Genes Associated with Pancreas Development and Function Maintain Open Chromatin in iPSCs Generated from Human Pancreatic Beta Cells (2017) (13)
- Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes (2020) (13)
- Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2 (2003) (13)
- The role of the HNF4α enhancer in type 2 diabetes: variants of the HNF4α enhancer are not a common cause of susceptibility to type 2 diabetes (2002) (13)
- Fostering improved human islet research: a European perspective (2019) (12)
- Assessment of the Role of Common Genetic Variation in the Transient Neonatal Diabetes Mellitus (TNDM) Region in Type 2 Diabetes (2006) (12)
- Identification of type 2 diabetes loci in 433,540 East Asian individuals (2020) (12)
- Patterns of differential gene expression in a cellular model of human islet development, and relationship to type 2 diabetes predisposition (2018) (12)
- Genome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biology (2016) (11)
- A CRISPR/Cas9 genome editing pipeline in the EndoC-βH1 cell line to study genes implicated in beta cell function. (2019) (11)
- Bridging the Gap Between Genetic Associations and Molecular Mechanisms for Type 2 Diabetes (2013) (11)
- Genetics: how the UKPDS contributed to determining the genetic landscape of Type 2 diabetes (2008) (10)
- A CRISPR/Cas9 genome editing pipeline in the EndoC-βH1 cell line to study genes implicated in beta cell function (2019) (10)
- Genetics of Type 2 Diabetes: Opportunities for Precision Medicine: JACC Focus Seminar. (2021) (10)
- Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation (2019) (9)
- Mutations in KATP Channel Genes cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood. Running Title: TNDM and KATP channel mutations Received for publication 15 January 2007 and accepted in revised form 6 April 2007. (2007) (9)
- Low Frequency Variants in the Exons Only Encoding Isoform A of HNF1A Do Not Contribute to Susceptibility to Type 2 Diabetes (2009) (8)
- Decreased STARD 10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice (2017) (7)
- Insights into metabolic disease from studying genetics in isolated populations: stories from Greece to Greenland (2016) (7)
- Monogenic disorders of the pancreatic β-cell: personalizing treatment for rare forms of diabetes and hypoglycemia. (2007) (7)
- Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition (2018) (6)
- A genome-wide CRISPR screen identifies regulators of beta cell function involved in type 2 diabetes risk (2021) (6)
- Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans (2008) (6)
- A Panel of Diverse Assays to Interrogate the Interaction between Glucokinase and Glucokinase Regulatory Protein, Two Vital Proteins in Human Disease (2014) (6)
- A brief history of diabetes genetics: insights for pancreatic beta-cell development and function. (2021) (6)
- Exocrine or endocrine? A circulating pancreatic elastase that regulates glucose homeostasis (2019) (5)
- Genetics for Endocrinologists: The Molecular Genetic Basis of Endocrine Disorders. (2003) (5)
- Human b CellTranscriptomeAnalysisUncovers lncRNAs That Are Tissue-Specific , Dynamically Regulated , and Abnormally Expressed in Type 2 Diabetes (2012) (5)
- Reclassification of Diabetes Etiology in a Family With Multiple Diabetes Phenotypes (2014) (5)
- The Importance of Context: Uncovering Species- and Tissue-Specific Effects of Genetic Risk Variants for Type 2 Diabetes (2016) (5)
- Glucose in the ICU — Evidence, Guidelines, and Outcomes (2012) (5)
- The role of the HNF4alpha enhancer in type 2 diabetes. (2002) (4)
- Investigating the role of the recently described Type 2 diabetes associated gene CDKN2A (p16) on pancreatic islet function using a human model of CDKN2A haploinsufficiency (vol 28, pg 53, 2011) (2011) (4)
- Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction (2007) (4)
- Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2018) (4)
- Every islet matters: improving the impact of human islet research (2022) (4)
- The beta-cell Ca2+/calmodulin-dependent protein kinase II (CaM kinase II) β3 isoform containing a proline-rich tandem repeat in the association domain can be found in the human genome (2001) (4)
- Type 2 Diabetes Risk Alleles Reveal a Role for Peptidylglycine Alpha-amidating Monooxygenase in Beta Cell Function (2017) (4)
- Electrophysiological properties of human β-cell lines EndoC-βH1 and -βH2 conform with human β-cells (2017) (3)
- Genetic regulation of RNA splicing in human pancreatic islets (2021) (3)
- Single-Cell Multi-Omic Roadmap of Human Fetal Pancreatic Development (2022) (3)
- A genome-wide CRISPR screen identifies CALCOCO2 as a regulator of beta cell function influencing type 2 diabetes risk (2022) (2)
- GCKR: How genetic variation across the allelic spectrum influences protein function and metabolic traits in humans (2016) (2)
- The genetics of diabetes: a progress report (2001) (2)
- Cell Biology Assessment of Glucokinase Mutations V62M and G72R in Pancreatic β-Cells (2007) (2)
- Mutations in the third gene shown to alter fasting glucose levels in the population (G6PC2) are not a common cause of monogenic forms of pancreatic B‐cell dysfunction (2009) (2)
- Cell Metabolism Previews TCF 7 L 2 and Diabetes : A Tale of Two Tissues , and of Two Species (2013) (2)
- The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations (2022) (2)
- Congenital Hyperinsullnism: Prevalence Prevalence of activating glucokinase mutations and a novel mutation (2008) (2)
- There is more than one way to reach type 2 diabetes (2021) (1)
- ANRIL, THE NON CODING RNA PRESENT IN THE CHROMOSOME 9 CAD ASSOCIATED LOCUS, HAS MULTIPLE SPLICE VARIANTS AND A POTENTIAL REGULATORY ROLE IN CDKN2B EXPRESSION (2009) (1)
- Multiple subtypes of diabetes are associated with activating mutations in KCNJ11, which encodes the Kir6.2 sub-unit of the beta-cell ATP sensitive potassium (K-ATP) channel (2004) (1)
- Familial hyperinsulinism caused by a novel activating glucokinase mutation (2002) (1)
- 3-LB: The Type 2 Diabetes-Associated Transcription Factor RREB1 Affects Beta-Cell Function and Development (2019) (1)
- Unsupervised clustering of missense variants in the HNF1A gene using multidimensional functional data aids clinical interpretation (2019) (1)
- Response to Comment on Misra et al. Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909–912 (2020) (1)
- Maturity onset diabetes of the young due to HNF 1 A variants in Croatia (2018) (1)
- High-Throughput HPLC-based N-Glycan Analysis of Human Plasma Proteins Identifies Potential Biomarkers for Maturity Onset Diabetes of the Young (MODY) (2011) (1)
- Novel Genetic Loci Implicated in Fasting Glucose Homeostasis and Their Impact on Related Metabolic Traits (2009) (1)
- Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity (2009) (1)
- A multiplexed assay of human glucokinase reveals thousands of potential disease variants with both decreased and increased activity (2022) (1)
- Microenvironmental adaptations drive obesity-associated pancreatic cancer (2019) (1)
- Genetically Programmed Defects in β-Cell Function (2011) (1)
- Molecular basis of Kir6.2 mutations causing neonatal diabetes and neonatal diabetes with neurological features (2005) (1)
- A comprehensive map of human glucokinase variant activity (2022) (1)
- Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia (2010) (1)
- Translational genomics: from genetic discovery to translational impact (0)
- Insulin resistance and intrauterine growth retardation due to a novel balanced translocation [46,t (7;19) (p15.2;p13.2)1 which disrupts the insulin receptor gene (2007) (0)
- Investigating PTEN expression in tissues of insulin action illustrates reduced mRNA expression in adipose tissue of patients with type 2 diabetes (2009) (0)
- Faculty Opinions recommendation of β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome. (2016) (0)
- RD Lawrence Lecture 2009 Old genes, new tricks: learning about blood glucose regulation from naturally occurring genetic variation in humans (2009) (0)
- 249-LB: PAX4 Loss of Function Alters Human Endocrine Cell Development and Influences Diabetes Risk (2022) (0)
- Insights into glucokinase regulatory protein regulation from the cellular and kinetic characterisation of rare coding variants (2010) (0)
- 25-OR: Investigating a Candidate Causal Allele in Type 2 Diabetes Susceptibility Gene PAM as a Cause of Neonatal Diabetes Mellitus (2019) (0)
- Electrophysiological properties of human beta-cell lines EndoC-βH1 and -βH2 conform with human beta-cells (2018) (0)
- Faculty Opinions recommendation of Phospho-BAD BH3 mimicry protects β cells and restores functional β cell mass in diabetes. (2015) (0)
- Type 2 Diabetes Risk Variants in PAM Reduce Chromogranin A-mediated Insulin Availability and Secretion from Beta Cells (2016) (0)
- ManageMent perspective (2011) (0)
- Insulin resistance and intrauterine growth retardation due to a novel balanced translocation (46,t(7;19)(p15.2;p13.2)) which disrupts the insulin receptor (INSR) gene (2007) (0)
- Loss of ZnT8 function protects against diabetes by enhanced insulin secretion (2019) (0)
- Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy (2007) (0)
- Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity (2008) (0)
- Risk genotypes, allele-specific expression and methylation status in human islets at the KCNQ1 type 2 diabetes-susceptibility locus (2010) (0)
- 309-OR: Deep Learning Model of Pancreatic Islet Epigenome Refines Association Signals at Type 2 Diabetes Susceptibility Loci (2019) (0)
- Type 2 Diabetes Risk Alleles Reveal a Role for Peptidylglycine Alpha-amidating Monooxygenase in Beta Cell Function Running title : Effects of PAM on beta cell function (2017) (0)
- Translating advances in our understanding of the genetics of diabetes into the clinic (2014) (0)
- Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia (2011) (0)
- Integrating Pancreatic Islet eQTL and Regulatory State Data to Identify Putative Causal Mechanisms at T2D Associated Loci (2014) (0)
- Faculty Opinions recommendation of Age-Dependent Pancreatic Gene Regulation Reveals Mechanisms Governing Human β Cell Function. (2016) (0)
- Edinburgh Research Explorer Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes (2018) (0)
- Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V (2006) (0)
- Corrigendum (2011) (0)
- Abstract A35: Microenvironmental adaptations drive obesity-associated pancreatic cancer (2019) (0)
- Functional analysis of GCKR mutations identified in subjects with hypertriglyceridaemia demonstrates the inherent challenges in clinical interpretation of rare variants (2012) (0)
- The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits. (2023) (0)
- Role of low frequency variants in HNF1A exons 8-10 encoding hepatocyte nuclear factor-1 alpha isoform A to susceptibility to Type 2 diabetes (2010) (0)
- One is never enough: a case report of three different diabetes phenotypes in a single family (2013) (0)
- The miRNA Expression Profile of Human Islets and Beta-Cells, and Relationship to Type 2 Diabetes Predisposition (2012) (0)
- A genome wide scan for linkage in families with early onset maturity-onset diabetes of the young suggests a potential role for genes on chromosomes 2p 3q, 4q and 10q in glucose homeostasis (2007) (0)
- Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells (2018) (0)
- PTEN mutations predisposing to monogenic cancer syndrome cause constitutive insulin sensitivity and obesity in humans (2012) (0)
- Persistent hyperinsulinemic hypoglycemia in a 7 yr old girl due to a novel activating glucokinase mutation (2007) (0)
- Response to Comment on: McDonald et al. High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes. Diabetes Care 2011;34:1860–1862 (2011) (0)
- Developing high throughput assay for functional classification of novel missense variants in HNF1A (2017) (0)
- Diabetes due to the mt3243 A > G mutation among young adult diabetic subjects in Sri Lanka - prevalence and clinical heterogeneity (2007) (0)
- Genome-wide association studies of Type 2 diabetes: are these ready to make an impact in the clinic? (2011) (0)
- A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes (2023) (0)
- The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity (2014) (0)
- Genome-Wide Association Identi fi es Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes (2011) (0)
- Stem Cell Repor ts Repor t Genes Associated with Pancreas Development and Function Maintain Open Chromatin in iPSCs Generated from Human Pancreatic Beta Cells (2017) (0)
- Distinguishing HNF1A-MODY from Type 2 diabetes in young adults: The biomarkers hsCRP and plasma N-glycan profile can assist in identifying high-risk cases (2018) (0)
- Coding variants in G6PC and G6PC2 identified from large-scale exome array meta-analysis impact on fasting glucose homeostasis through effects on different tissues (2016) (0)
- Precision Medicine for Type 2 Diabetes (2018) (0)
- Hypoglycemia Characterization of a New Mutation Glucokinase Activity following Discovery of a Novel Site Regulating Molecular Bases of Disease : (2011) (0)
- Genetics in Diabetes: Type 2 Diabetes and Related Traits (2014) (0)
- Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition (2018) (0)
- Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (0)
- Genetics Can Unravel the Pathogenesis of Diabetes (2014) (0)
- SSTR 2 is the functionally dominant somatostatin receptor in human 2 pancreatic β-and α-cells 3 4 (2012) (0)
- The molecular genetics of insulin secretion and signalling (2011) (0)
- Faculty Opinions recommendation of Proinflammatory Cytokines Induce Endocrine Differentiation in Pancreatic Ductal Cells via STAT3-Dependent NGN3 Activation. (2016) (0)
- The majority of genome-wide association studies findings have highlighted genetic variants primarily affecting b- cell function rather than insulin resistance. (2011) (0)
- Strategies for improving statistical power for detailed physiological characterisation of individuals with type 2 diabetes-associated variants (2016) (0)
- Glycosylation of plasma proteins in diagnosis of HNF1A-maturity onset diabetes of the young (2015) (0)
- Screening of sulphonylurea receptor 1 (SUR1) for mutations in different types of NIDDM (1997) (0)
- Mechanisms of genome regulation in human islets and their role in the pathogenesis of type 2 diabetes (2014) (0)
- The extent of K-ATP channel block by MgATP correlates with the clinical phenotype caused by gain-of-function KCNJ11 mutations (2005) (0)
- Inferring causal genes at type 2 diabetes GWAS loci through chromosome interactions in islet cells (2022) (0)
- Type 2 Diabetes risk alleles in Peptidyl-glycine Alpha-amidating Monooxygenase influence GLP-1 levels and response to GLP-1 Receptor Agonists (2023) (0)
- Small but mighty: microexons in glucose homeostasis. (2023) (0)
- The use of 1,5 anhydroglucitol level as a clinical test to differentiate subtypes of diabetes (2009) (0)
- Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics (2009) (0)
- Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data (2019) (0)
- Gene expression analysis demonstrates presence of a non-coding RNA (ANRIL) in human islets and FACs sorted beta cells which has a potential regulatory role on CDKN2B expression (2009) (0)
- Zmiz1 is required for mature β-cell function and mass expansion upon high fat feeding (2022) (0)
- Enhanced insulin sensitivity in obese patients with a rare cancer predisposition syndrome (Cowden syndrome) due to PTEN mutations: further evidence for the Yin-Yang hypothesis (2008) (0)
- Calcium/calmodulin dependent protein kinase II genes: Genomic structure and screening for variants in subjects with Type 2 diabetes (2001) (0)
- The evaluation of the contribution of low frequency, intermediate penetrance sequence variants to the pathogenesis of Type 2 Diabetes (2012) (0)
- 3D score plot of a two-class PLS-DA model of HNF1A versus T2D/GCK; green triangle = HNF1A, red triangle = GCK and blue triangle = T2D. (2012) (0)
- PAX4 loss of function alters human endocrine cell development and influences diabetes risk (2022) (0)
- Analysis of the imprinted transient neonatal diabetes critical region (ZAC/HYMAI) locus in Type 2 diabetes parent-offspring trios (2002) (0)
- 61-OR: Machine Learning Framework Predicts Metabolic Subphenotypes Using Glucose Dynamics during Oral Glucose Tolerance Test (2022) (0)
- Assessment of the pathogenicity of the previously reported D526N Hepatocyte Nuclear factor-1 alpha (HNF1A) variant using a combined genetic, in silico and functional approach (2013) (0)
- Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition (2018) (0)
- Faculty Opinions recommendation of Generation of stem cell-derived β-cells from patients with type 1 diabetes. (2016) (0)
- Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials (2007) (0)
- Assessing the likely function of HNF1A missense variants using CRP and allele frequency data (2016) (0)
- SSTR2 is the functionally dominant somatostatin receptor in human pancreatic (cid:1) - and (cid:2) -cells (2012) (0)
- Loss of RREB1 in pancreatic beta cells reduces cellular insulin content and affects endocrine cell gene expression (2022) (0)
- Translating Genetic Association Signals for Diabetes and Metabolic Traits into Molecular Mechanisms for Disease (2014) (0)
- Editorial Overview: "Islet Biology in Type 2 Diabetes". (2019) (0)
- Mechanisms of Type 2 diabetes susceptibility (2013) (0)
- A Homozygous Loss of Function HNF1A Variant Resulting in Sulfonylurea-Responsive Early-Onset Diabetes (2016) (0)
- Familial diabetes in Asian families; remember MODY (2005) (0)
- 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 (2020) (0)
- Identification and assessment of glycan profiles as a biomarker for maturity onset diabetes of the young (MODY) due to hepatocyte nuclear factor 1 alpha (HNF1A) mutations (2011) (0)
- siblings mutations and risk of neonatal diabetes for subsequent de novo KCNJ11 Origin of (2007) (0)
- Assessment of the role of genetic variation in the transient neonatal diabetes (TNDM) region on chromosome 6q24 in type 2 diabetes: a comparative genomic and haplotype approach (2005) (0)
- Large-scale type 2 diabetes association analysis of low-frequency nonsynonymous coding variants in the HNF4A gene including up to 17,600 individuals (2008) (0)
- C 24 Calcineurin A α regulates Kir 6 . 1 / SUR 2 B in HEK 293 cells through an interaction with protein kinase A (2005) (0)
- Catalytic instability of the glucokinase MODY-2 mutants V62M and G72R in pancreatic beta cells (2006) (0)
- Activating mutations in the KCNJ11 gene encoding the ATP-sensitive potassium channel subunit Kir6.2 are associated with a spectrum of early-onset syndromic and non-syndromic diabetes (2004) (0)
- Sequencing of 12,940 exomes identifies additional coding variants in G6PC2 which influence fasting glucose levels through effects on protein stability or activity (2015) (0)
- Patient recruitment strategy for family studies investigating novel genetic causes of maturity-onset diabetes of the young (2005) (0)
- (2019). Plasma fucosylated glycans and C-reactive protein as biomarkers of HNF1A-MODY in young adult–onset nonautoimmune diabetes. (1), 17-26. (2019) (0)
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