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Bell, Graeme
One or more keywords matched the following properties of Bell, Graeme
PropertyValue
keywords Genetics of diabetes
keywords Insulin mutations and diabetes
overview Dr. Bell's research program focuses on the genetics of diabetes and other metabolic disorders.
One or more keywords matched the following items that are connected to Bell, Graeme
Item TypeName
Concept Diabetes Mellitus, Experimental
Concept Diabetes Mellitus, Type 1
Concept Diabetes Mellitus, Type 2
Concept Insulin
Concept Insulin-Like Growth Factor II
Concept Mutation
Concept Receptor, Insulin
Concept Insulin Resistance
Concept Diabetes, Gestational
Concept Point Mutation
Concept Mutation, Missense
Concept Insulin-Secreting Cells
Concept Frameshift Mutation
Concept Diabetes Complications
Concept Insulin Receptor Substrate Proteins
Concept Diabetes Mellitus
Concept Insulin, Regular, Human
Academic Article Human glucagon-like peptide-1 receptor gene. Localization to chromosome band 6p21 by fluorescence in situ hybridization and linkage of a highly polymorphic simple tandem repeat DNA polymorphism to other markers on chromosome 6.
Academic Article Hormonal/metabolic regulation of the human GLUT4/muscle-fat facilitative glucose transporter gene in transgenic mice.
Academic Article Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase.
Academic Article Human insulin receptor substrate-1 gene (IRS1): chromosomal localization to 2q35-q36.1 and identification of a simple tandem repeat DNA polymorphism.
Academic Article cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young.
Academic Article Identification of a simple tandem repeat DNA polymorphism in the human glycogen synthase gene and linkage to five markers on chromosome 19q.
Academic Article Human GLUT4/muscle-fat glucose-transporter gene. Characterization and genetic variation.
Academic Article Linkage and association studies in insulin-dependent diabetes with a new dinucleotide repeat polymorphism at the GAD65 locus.
Academic Article Human hexokinase II gene: exon-intron organization, mutation screening in NIDDM, and its relationship to muscle hexokinase activity.
Academic Article Glucokinase mutations, insulin secretion, and diabetes mellitus.
Academic Article Seminars in Medicine of the Beth Israel Hospital, Boston. Non-insulin-dependent diabetes mellitus - a genetically programmed failure of the beta cell to compensate for insulin resistance.
Academic Article The aggregation of the 5' insulin gene polymorphism in insulin dependent (type I) diabetes mellitus families.
Academic Article Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation.
Academic Article Characterization of a third simple tandem repeat polymorphism in the human glucokinase gene.
Academic Article NIDDM is associated with loss of pancreatic beta-cell L-type Ca2+ channel activity.
Academic Article Rat inwardly rectifying potassium channel Kir6.2: cloning electrophysiological characterization, and decreased expression in pancreatic islets of male Zucker diabetic fatty rats.
Academic Article Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
Academic Article Identification of microsatellite markers near the human genes encoding the beta-cell ATP-sensitive K+ channel and linkage studies with NIDDM in Japanese.
Academic Article Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)
Academic Article Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.
Academic Article Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle.
Academic Article Changes in pancreatic islet glucokinase and hexokinase activities with increasing age, obesity, and the onset of diabetes.
Academic Article Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene.
Academic Article Diabetes, dependence, asymptotics, selection and significance.
Academic Article Molecular analysis of the fructose transporter gene (GLUT5) in isolated fructose malabsorption.
Academic Article Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12.
Academic Article Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM.
Academic Article Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).
Academic Article Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM.
Academic Article Maturity onset diabetes of the young (MODY).
Academic Article An approach for identifying simple sequence repeat DNA polymorphisms near cloned cDNAs and genes. Linkage studies of the islet amyloid polypeptide/amylin and liver glycogen synthase genes and NIDDM.
Academic Article Linkage studies in NIDDM with markers near the sulphonylurea receptor gene.
Academic Article Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.
Academic Article Nature or nurture: an insightful illustration from a Chinese family with hepatocyte nuclear factor-1 alpha diabetes (MODY3)
Academic Article Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus.
Academic Article Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom.
Academic Article Evidence that insulin is imprinted in the human yolk sac.
Academic Article Mutations in the coding region of the neurogenin 3 gene (NEUROG3) are not a common cause of maturity-onset diabetes of the young in Japanese subjects.
Academic Article Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.
Academic Article Linkage analysis of maturity-onset diabetes of the young with microsatellite polymorphisms. No linkage to ADA or GLUT2 genes in two families.
Academic Article beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY.
Academic Article A simple test for the high-frequency P291fsinsC mutation in the HNF1 alpha/MODY3 gene.
Academic Article A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance.
Academic Article Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.
Academic Article Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome.
Academic Article Reduced pancreatic polypeptide response to hypoglycemia and amylin response to arginine in subjects with a mutation in the HNF-4alpha/MODY1 gene.
Academic Article Functional properties of the R154X HNF-4alpha protein generated by a mutation associated with maturity-onset diabetes of the young, type 1.
Academic Article Identification of three missense mutations in the peroxisome proliferator-activated receptor alpha gene in Japanese subjects with maturity-onset diabetes of the young.
Academic Article Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3beta gene (HNF3B) in Japanese patients with maturity-onset diabetes of the young.
Academic Article Neonatal diabetes mellitus due to complete glucokinase deficiency.
Academic Article Calpains play a role in insulin secretion and action.
Academic Article No diabetes-associated mutations in the coding region of the hepatocyte nuclear factor-4gamma gene (HNF4G) in Japanese patients with MODY.
Academic Article Improved glucose tolerance and insulin sensitivity after electrical stimulation-assisted cycling in people with spinal cord injury.
Academic Article Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome.
Academic Article Diabetes mellitus and genetically programmed defects in beta-cell function.
Academic Article Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome.
Academic Article Variants within the calpain-10 gene on chromosome 2q37 (NIDDM1) and relationships to type 2 diabetes, insulin resistance, and impaired acute insulin secretion among Scandinavian Caucasians.
Academic Article A 48-hour exposure of pancreatic islets to calpain inhibitors impairs mitochondrial fuel metabolism and the exocytosis of insulin.
Academic Article Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy.
Academic Article Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population.
Academic Article Control of pancreas and liver gene expression by HNF transcription factors.
Academic Article Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus.
Academic Article Transgenic mice with green fluorescent protein-labeled pancreatic beta -cells.
Academic Article Genome-wide scan for metabolic syndrome and related quantitative traits in Hong Kong Chinese and confirmation of a susceptibility locus on chromosome 1q21-q25.
Academic Article Mapping genes influencing type 2 diabetes risk and BMI in Japanese subjects.
Academic Article Genome-wide scan for type 2 diabetes loci in Hong Kong Chinese and confirmation of a susceptibility locus on chromosome 1q21-q25.
Academic Article Optical imaging of pancreatic beta cells in living mice expressing a mouse insulin I promoter-firefly luciferase transgene.
Academic Article Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility.
Academic Article Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes.
Academic Article Anti-diabetic effect of ginsenoside Re in ob/ob mice.
Academic Article Gene symbol: IPF1. Disease: MODY 4.
Academic Article Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses.
Academic Article Patterns of linkage disequilibrium in the type 2 diabetes gene calpain-10.
Academic Article Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees.
Academic Article Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Academic Article Insulin gene mutations as a cause of permanent neonatal diabetes.
Academic Article Noninvasive monitoring of changes in pancreatic beta-cell mass by bioluminescent imaging in MIP-luc transgenic mice.
Academic Article Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A).
Academic Article Diagnosis and treatment of neonatal diabetes: a United States experience.
Academic Article Sustained expression of hepatocyte nuclear factor-6 leads to loss of pancreatic beta-cells by apoptosis.
Academic Article 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.
Academic Article Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population.
Academic Article Subcellular recruitment by TSG118 and TSPYL implicates a role for zinc finger protein 106 in a novel developmental pathway.
Academic Article Association of the (AU)AT-rich element polymorphism in PPP1R3 with hormonal and metabolic features of polycystic ovary syndrome.
Academic Article Update in neonatal diabetes.
Academic Article The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population.
Academic Article From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
Academic Article Kir6.2 variant E23K increases ATP-sensitive K+ channel activity and is associated with impaired insulin release and enhanced insulin sensitivity in adults with normal glucose tolerance.
Academic Article Variation in the perilipin gene (PLIN) affects glucose and lipid metabolism in non-Hispanic white women with and without polycystic ovary syndrome.
Academic Article A brief perspective on insulin production.
Academic Article Common polymorphisms of calpain-10 are associated with abdominal obesity in subjects at high risk of type 2 diabetes.
Academic Article Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60.
Academic Article Glycemic control promotes pancreatic beta-cell regeneration in streptozotocin-induced diabetic mice.
Academic Article Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.
Academic Article Neonatal diabetes mellitus: a model for personalized medicine.
Academic Article Seeing is believing: how the MIP-luc mouse can advance the field of islet transplantation and ß-cell regeneration.
Academic Article Onset features and subsequent clinical evolution of childhood diabetes over several years.
Academic Article The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes.
Academic Article Calpain-10 gene and protein expression in human skeletal muscle: effect of acute lipid-induced insulin resistance and type 2 diabetes.
Academic Article TCF7L2 variant rs7903146 affects the risk of type 2 diabetes by modulating incretin action.
Academic Article MODY: history, genetics, pathophysiology, and clinical decision making.
Academic Article Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.
Academic Article Association of the KCNJ11 variant E23K with type 2 diabetes in Indo-Trinidadians.
Academic Article An in vivo cis-regulatory screen at the type 2 diabetes associated TCF7L2 locus identifies multiple tissue-specific enhancers.
Academic Article Characterization of Japanese families with early-onset type 2 (non-insulin dependent) diabetes mellitus and screening for mutations in the glucokinase and mitochondrial tRNA(Leu(UUR)) genes.
Academic Article Identification of microsatellite markers near the human ob gene and linkage studies in NIDDM-affected sib pairs.
Academic Article Identification of two novel amino acid polymorphisms in beta-cell/liver (GLUT2) glucose transporter in Japanese subjects.
Academic Article Compensation in pancreatic beta-cell function in subjects with glucokinase mutations.
Academic Article Localization of inositol trisphosphate receptor subtype 3 to insulin and somatostatin secretory granules and regulation of expression in islets and insulinoma cells.
Academic Article Mutation of an aspartate at residue 89 in somatostatin receptor subtype 2 prevents Na+ regulation of agonist binding but does not alter receptor-G protein association.
Academic Article Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations.
Academic Article HLA-DQ haplotypes differ by ethnicity in patients with childhood-onset diabetes.
Academic Article Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.
Academic Article Evolution of beta-cell dysfunction in the male Zucker diabetic fatty rat.
Academic Article No evidence for mutations in a putative beta-cell ATP-sensitive K+ channel subunit in MODY, NIDDM, or GDM.
Academic Article Clinical characteristics of subjects with a missense mutation in glucokinase.
Academic Article Localization of the genes encoding two transcription factors, LMX1 and CDX3, regulating insulin gene expression to human chromosomes 1 and 13.
Academic Article Mutations in the glucokinase gene are not a major cause of late-onset type 2 (non-insulin-dependent) diabetes mellitus in Japanese subjects.
Academic Article Glucokinase: structural analysis of a protein involved in susceptibility to diabetes.
Academic Article Expression of calcium channel mRNAs in rat pancreatic islets and downregulation after glucose infusion.
Academic Article Structure and function of ASP, the human homolog of the mouse agouti gene.
Academic Article Mutations of the human glucokinase gene and diabetes mellitus.
Academic Article The population association of glucokinase gene with type 2 (noninsulin-dependent) diabetes mellitus in Chinese.
Academic Article Maturity-onset diabetes of the young.
Academic Article Repression of the insulin-like growth factor II gene by the Wilms tumor suppressor WT1.
Academic Article In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.
Academic Article Organization of the human GLUT2 (pancreatic beta-cell and hepatocyte) glucose transporter gene.
Academic Article Differential effects of overexpressed glucokinase and hexokinase I in isolated islets. Evidence for functional segregation of the high and low Km enzymes.
Academic Article A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene.
Academic Article A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.
Academic Article Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.
Academic Article Alterations in TCF7L2 expression define its role as a key regulator of glucose metabolism.
Academic Article Exome sequencing and genetic testing for MODY.
Academic Article Genetic contribution of polymorphism of the GLUT1 and GLUT4 genes to the susceptibility to type 2 (non-insulin-dependent) diabetes mellitus in different populations.
Academic Article Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
Academic Article Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.
Academic Article Localization of human homeodomain transcription factor insulin promoter factor 1 (IPF1) to chromosome band 13q12.1.
Academic Article Cloning of rat KATP-2 channel and decreased expression in pancreatic islets of male Zucker diabetic fatty rats.
Academic Article The 31-cM region of chromosome 11 including the obesity gene tubby and ATP-sensitive potassium channel genes, SUR1 and Kir6.2, does not contain a major susceptibility locus for NIDDM in 127 non-Hispanic white affected sibships.
Academic Article Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.
Academic Article Mapping diabetes-susceptibility genes. Lessons learned from search for DNA marker for maturity-onset diabetes of the young.
Academic Article Variation in the calpain-10 gene affects blood glucose levels in the British population.
Academic Article Organ alchemy: producing insulin in the liver.
Academic Article Linkage of calpain 10 to type 2 diabetes: the biological rationale.
Academic Article Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family.
Academic Article Abnormal insulin secretion, not insulin resistance, is the genetic or primary defect of MODY in the RW pedigree.
Academic Article 5-amino-imidazole carboxamide riboside acutely potentiates glucose-stimulated insulin secretion from mouse pancreatic islets by KATP channel-dependent and -independent pathways.
Academic Article Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies.
Academic Article Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
Academic Article Impaired insulin secretion in transgenic mice over-expressing calpastatin in pancreatic ß-cells.
Academic Article Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals.
Academic Article Three Strikes and You're Cured.
Academic Article Linkage and association between insulin-dependent diabetes mellitus (IDDM) susceptibility and markers near the glucokinase gene on chromosome 7.
Academic Article Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20.
Academic Article Creation of an inositol 1,4,5-trisphosphate-sensitive Ca2+ store in secretory granules of insulin-producing cells.
Academic Article Molecular model of human beta-cell glucokinase built by analogy to the crystal structure of yeast hexokinase B.
Academic Article Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family.
Academic Article Inhibition of cell proliferation by the somatostatin analogue RC-160 is mediated by somatostatin receptor subtypes SSTR2 and SSTR5 through different mechanisms.
Academic Article The length distribution of perfect dimer repetitive DNA is consistent with its evolution by an unbiased single-step mutation process.
Academic Article The advantage of sex in evolving yeast populations.
Academic Article The oligogenic view of adaptation.
Academic Article Enhancing pancreatic Beta-cell regeneration in vivo with pioglitazone and alogliptin.
Academic Article In vitro scan for enhancers at the TCF7L2 locus.
Academic Article Role of BH3-only molecules Bim and Puma in ß-cell death in Pdx1 deficiency.
Academic Article Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications.
Academic Article Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
Academic Article Genetics and pathophysiology of neonatal diabetes mellitus.
Academic Article GSK-3ß function in bone regulates skeletal development, whole-body metabolism, and male life span.
Academic Article Evidence of non-pancreatic beta cell-dependent roles of Tcf7l2 in the regulation of glucose metabolism in mice.
Academic Article Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
Academic Article Effect of genetic variation in a Drosophila model of diabetes-associated misfolded human proinsulin.
Academic Article Sex and the spread of retrotransposon Ty3 in experimental populations of Saccharomyces cerevisiae.
Academic Article Genetic complexity in a Drosophila model of diabetes-associated misfolded human proinsulin.
Academic Article Localization of hepatocyte nuclear factor-4a in the nucleolus and nucleus is regulated by its C-terminus.
Academic Article Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.
Academic Article Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
Academic Article Systemic alterations in the metabolome of diabetic NOD mice delineate increased oxidative stress accompanied by reduced inflammation and hypertriglyceremia.
Academic Article Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism.
Academic Article Beyond type 2 diabetes, obesity and hypertension: an axis including sleep apnea, left ventricular hypertrophy, endothelial dysfunction, and aortic stiffness among Mexican Americans in Starr County, Texas.
Academic Article Resting beta-cells - A functional reserve?
Academic Article The genetic architecture of type 2 diabetes.
Academic Article Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms.
Academic Article A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.
Academic Article In vivo measurement and biological characterisation of the diabetes-associated mutant insulin p.R46Q (GlnB22-insulin).
Award or Honor Receipt Manpei Suzuki International Prize for Diabetes Research
Award or Honor Receipt The Banting Medal for Scientific Achievement of the American Diabetes Association
Academic Article Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
Academic Article Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Academic Article A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes.
Academic Article Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Academic Article Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Academic Article In celebration of a century with insulin - Update of insulin gene mutations in diabetes.
Academic Article Insight on Diagnosis and Treatment From Over a Decade of Research Through the University of Chicago Monogenic Diabetes Registry.
Grant GENES FOR NON-INSULIN-DEPENDENT DIABETES MELLITUS
Grant MOLECULAR MECHANISMS/BETA CELL DYSFUNCTION IN DIABETES
Grant Diabetes Research and Training Center
Grant Diabetes Research and Training Center
Grant GENES RESPONSIBLE IN INSULIN-DEPENDENT DIABETES MELLITUS
Grant A Fly Model of Complex Protein Misfolding Disease
Grant Functional follow-up of the association between TCF7L2 and T2D
Grant Transcriptional Regulatory Networks in Pancreatic Islets
Academic Article Implementing genetic testing in diabetes: Knowledge, perceptions of healthcare professionals, and barriers in a developing country.
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  • mutations
  • diabetes