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Peer Reviewed Papers, Books, Chapters

Year Title Citation Authors
1. 2010 Bace2 is a b-cell enriched protease that regulates pancreatic b-cell function and mass    (Submitted)
2. 2010 Regulation of Wnt signalling in pancreatic islets from wildtype and obese mice Diabetologia 53:123-127
3. 2010 Multimodal imaging of pancreatic β-cells in vivo by targeting the cell surface receptor TMEM27.    (Submitted)
4. 2010 Metabolic syndrome in Micronesia: Longitudinal study shows increasing obesity and hyperglycemia with distinct lipid profiles    (Submitted)
5. 2010 MicroRNAs-103 and -107 regulate insulin sensitivity    (Submitted)
6. 2010 GABAB – GIRK2 Mediated Signaling in Down Syndrom.    (Submitted)
7. 2009 Whole population, genome-wide mapping of hidden relatedness Genome Res. Genome Res. 19:318-326
8. 2009 miR-375 maintains normal pancreatic a- and b-cell mass Proc. Natl. Acad. Sci. U.S.A. 106:5813-5818
9. 2009 DGCR8-dependent microRNA biogenesis is essential for skin development. Proc. Natl. Acad. Sci. U.S.A. 106: 498-502.
10. 2009 Maturity-onset diabetes of the young: Molecular genetics, clinical manifestations and therapy. In “The Principles of Diabetes Mellitus”, Chapter 3, 2nd Edition, eds. Leonid Poretzki, Kluwer Publishing.
11. 2009 Insulin-regulated, hypothalamic Foxa2 activity mediates metabolic and behavioral responses to fasting Nature 462:646-650.
12. 2009 Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae Proc. Natl. Acad. Sci. U.S.A. 106:13886-13891
13. 2009 Nuclear export-independent inhibition of Foxa2 by insulin. J. Biol. Chem. 284:24816-24824
14. 2009 European admixture on the Micronesian island of Kosrae: lessons from complete genetic information. Eur. J. Hum. Genet. Oct. 21, 2009
15. 2009 Genomewide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae Heart Rhythm 6:634-641
16. 2008 Whole-genome association studies in an inbred, isolated population from the Pacific island of Kosrae PLoS Genet. 5:e1000365
17. 2008 Common SNPs in HMGCR in Micronesians and Caucasians associated with LDL-cholesterol levels affect alternative splicing of exon13 Arterioscler. Thromb. Vasc. Biol. 28:2078-84
18. 2008 Foxa2 activity increases plasma HDL levels by regulating apolipoprotein M. J. Biol. Chem. 283:16940-16949
19. 2008 A skin microRNA promotes differentiation by repressing stemness. Nature 452:225-229
20. 2007 microRNAs and the regulation of glucose and lipid metabolism Diabetes Obes Metab. 9 S2:67-73.
21. 2007 Effective RNAi mediated gene silencing without interruption of the endogenous miRNA pathway Nature 449:745-748
22. 2007 Mechanisms of in vivo delivery of lipophilic siRNAs. Nature Biotechnology 25:1149-1157
23. 2007 Specificity, duplex cleavage and subcellular localization of antagomirs   Nucleic Acids Research 35:2885-2892.
24. 2007 Insulin receptors in b-cells are critical for islet compensatory growth response to insulin resistance Proc. Natl. Acad. Sci. U.S.A. 104:8977-8982.
25. 2006 MicroRNAs: a new class of regulatory genes affecting metabolism Cell Metabolism 4:9-12.
26. 2006 Approaches to study the function of microRNAs Nature Genetics 38:S14-S19.
27. 2006 Elevated expression of the G-protein activated inwardly rectifying potassium channel 2 (Girk2) in unipolar brush cells (UBCs) of Down Syndrome mouse model   Cell Mol Neurobiol. 26:717-732.
28. 2006 Coactivation of Foxa2 through Pgc1beta promotes liver fatty acid oxidation and triglyceride/VLDL secretion. Cell Metabolism 3:99-110.
29. 2006 Evaluating potential for whole genome studies in Kosrae - an isolated population in Micronesia. Nature Genetics 38:214-217.
30. 2006 A genome wide screen and genetic linkage analysis for obesity, type II diabetes, hypertension, and dyslipidemia (Syndrome X) on the island of Kosrae, Federated States of Micronesia    Proc. Natl. Acad. Sci. U.S.A. 103:3502-3509.
31. 2005 Combinatorial microRNA target predictions. Nature Genetics 37:495-500.
32. 2005 Tmem27: a cleaved and secreted transmembrane protein that stimulates pancreatic b-cell proliferation.   Cell Metabolism 2:385-397.
33. 2005 Silencing of microRNAs in vivo with “antagomirs”.    Nature 438:685-689.
34. 2005 G protein-gated potassium channels containing the GIRK2 subunit are molecular hubs for pharmacologically-induced hypothermic responses J Neurosci. 25:7801-7804
35. 2005 Apolipoprotein M is required for preb-HDL formation, reverse cholesterol efflux to HDL and protects against atherosclerosis     Nature Medicine 11:418-422.
36. 2005 Defective Ontogenesis in Foxa1-null Prostates Development 132:3431-3443.
37. 2004 Foxa2 regulates glucose and fatty acid metabolism in the liver during starvation and in diabetes Nature 432:1027-1032.
38. 2004 Phytosterolemia on the Island of Kosrae: A founder effect for a novel ABCG8 mutation results in a high carrier rate and increased plasma plant sterol levels. J. Lipid Res. 45:1608-1613.
39. 2004 Human insulin resistance and diabetes mellitus due to a missense mutation in AKT2 Science 304:1325-1328.
40. 2004 Islet secretory defect in IRS-1 null mice is linked with reduced calcium signaling and expression of SERCA-2b and –3 Diabetes 53:1517-1525.
41. 2004 Navigating the Pathway from Embryonic Stem Cells to Beta Cells: Towards a perfect beta cell replacement In Seminars in Cell and Developmental Biology, Editor Phillipe Halban 15:327-336.
42. 2004 Bi-directional effects of GABA(B) receptor agonists on the mesolimbic dopamine system. Nature Neuroscience 7: 153-9
43. 2004 A pancreatic islet-specific miRNA regulates insulin secretion Nature 432:226-230.
44. 2004 Regulation of transcriptional coactivator PGC-1b. Science PAGE. 9: 9-10
45. 2004 Spinal G-protein-gated K+channels formed by GIRK1 and GIRK2 subunits modulate thermal nociception and contribute to morphine analgesia J Neurosci. 24: 2806-2812.
46. 2004 Impaired insulin secretory function in mice with pancreatic beta-cell knockout of the insulin receptor   Am J Physiol Endocrinol Metab. 286: E41-E49.
47. 2003 Bone marrow: An extra-pancreatic hideout for the elusive pancreatic stem cell? J. Clin. Invest. 111:799-801
48. 2003 Endothelin-B receptor activation triggers an endogenous analgesic cascade at sites of peripheral injury   Nature Medicine 9: 1055-1061.
49. 2003 Regulation of Apolipoprotein M Gene Expression by MODY3 Gene Hepatocyte Nuclear Factor–1a: Haploinsufficiency is associated with reduced serum apoM levels. Diabetes 52: 2989-2995.
50. 2003 Insulin regulates the transcriptional activity of forkhead transcription factor Hnf-3b/Foxa-2 by Akt-mediated phosphorylation. Proc Natl Acad Sci U S A 100: 11624-11629.
51. 2003 Role of Foxa-2 in obesity, hyperinsulinemia and adipocyte differentiation.    J. Clin. Invest. 112:345-356.
52. 2003 Contribution of GIRK2-mediated postsynaptic signaling to opiate and alpha 2-adrenergic analgesia and analgesic sex differences Proc Natl Acad Sci U S A 100:271-276
53. 2003 Decreased cocaine self-administration in Kir3 potassium channel subunit knockout mice. Neuropsychopharmacology 28:932-938
54. 2003 A pervasive mechanism for analgesia: activation of GIRK2 channels Proc Natl Acad Sci U S A 100:277-282
55. 2002 Hyperalgesia and blunted morphine analgesia in G protein-gated potassium channel subunit knockout mice. Neuroreport 13:2509-13.
56. 2002 G-protein gated potassium channels containing GIRK2 and GIRK3 subunits mediate the acute opioid inhibition of locus coeruleus neurons J. Neuroscience 22:4328-4334.
57. 2002 Decreased clearance of glibenclamide in HNF-1a-deficient mice: a mechanism for hypersensitivity to sulfonylurea therapy in MODY3 patients   Diabetes 51:S343-348.
58. 2002 Maturity-onset diabetes of the young: Molecular genetics, clinical manifestations and therapy In “The Principles of Diabetes Mellitus”, eds. Leonid Poretzki, Kluwer Publishing.
59. 2002 Pancreatic b-cell defects in mice with combined heterozygous mutations in the genes encoding Pdx-1, Hnf-1a and Hnf-3b. Proc Natl Acad Sci U S A. 99:3818-3823.
60. 2002 Molecular etiologies of MODY and other early-onset forms of diabetes. Current Diabetes Reports 2:125-134.
61. 2002 Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia. Am. J. Med. Genet. 110:234-242
62. 2002 b-cell-specific IGF-1 receptor knockout leads to hyperinsulinemia and glucose intolerance but does not alter b-cell mass. Nature Genetics 31:111-115
63. 2002 Hyperactivity and activation of dopamine D1 in mice lacking GIRK2 channels.   Psychopharmacology 159:370-378.
64. 2001 Dissecting the transcriptional network in pancreatic-b-cells. Proc Natl Acad Sci USA. 98:14189-14191
65. 2001 Loss of HNF-1a function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism    Diabetes 50, 2472-2480.
66. 2001 GIRK2-deficient mice: Evidence for hyperactivity and reduced anxiety. Physiology & Behavior 74:109-117.
67. 2001 Potassium channels as targets for ethanol: Studies of GIRK2 null mutant mice. J. Pharmacol. & Exp. Therap. 298:298-530.
68. 2001 HNF-1a is an essential regulator of bile acid and plasma cholesterol metabolism. Nature Genetics 27:375-383.
69. 2000 The Role of the Hepatocyte Nuclear Factor Network in Glucose Homeostasis, in "Molecular Basis of Pancreas Endocrine Development and Function" editors: M A. Hussain, C.P. Miller, J. F. Habener, Kluwer Academic Publishers (2001)
70. 2000 Epidemiology and factor analysis of obesity, type II diabetes, hypertension, and dyslipidemia (Syndrome X) on the island of Kosrae, Federated States of Micronesia Human Heredity 51:8-19.
71. 2000 Mutation screening of HNF-3 genes in early- and late-onset type 2 diabetes mellitus Human Heredity 50:370-381.
72. 2000 Genotype/ Phenotype Relationships in HNF-4a/MODY1 Diabetes: Haploinsufficiency is associated with reduced apolipoprotein AII serum levels Diabetes 49:832-837.
73. 2000 Pancreatic beta cell-specific transcriptionof the pdx-1 gene: The role of conserved upstream control regions and their HNF-3 sites J. Biol. Chem. 275:3485-3492.
74. 1999 Impaired glucose homeostasis and neonatal mortality in HNF-3a deficient mice. Proc Natl Acad Sci USA. 96:10152-10157.
75. 1999 The role of the hepatocyte nuclear factor network in maturity-onset diabetes of the young (MODY). In“Frontiers of Insulin secretion and Pancreatic ß-Cell Research”, edited by F. Matschinsky.
76. 1999 Human MAFB: cDNA cloning, genomic structure and evaluation as a candidate tumor suppressor gene in myeloid leukemias. Genomics 59:275-281.
77. 1999 Functional analysis of the MODY1 mutations HNF4(R127W), HNF4(V255M) and HNF4(E276Q). Diabetes 48:1459-1465.
78. 1999 Diabetes Research in the Next Millennium. Can. J. Diabetes Care
79. 1998 HNF-3a and HNF-3ß regulate a transcription factor network which is critical for cell differentiation and metabolism. Science 281:692-695.
80. 1998 Molecular basis for non-insulin dependent diabetes mellitus. In “Molecular Basis of Heart Disease”, A companion to Braunwald’s Heart Disease, Ed. K.R.Chien, W.B.Saunders.
81. 1998 Epilepsy genes: Excitement traced to K+-channels N&V Nature Genetics 18:6-8.
82. 1997 Mice lacking G protein-coupled inwardly-rectifying K+-channel GIRK2 are susceptible to seizures but have normal midbrain and cerebellum. Proc Natl Acad Sci USA. 94:923-927.
83. 1997 The MODY1 transcription factor HNF4a regulates expression of genes required for glucose transport and metabolism Proc Natl Acad Sci USA. 94:13209-13214.
84. 1997 Mapping NIDDM Genes: Studies with 19 candidate genes in 600 French affected sib-pairs. Diabetes 46:1062-1068.
85. 1997 Single stranded conformational polymorphism analysis of the mitochondrial glycerol phosphate dehydrogenase gene in patients with non-insulin-dependent diabetes mellitus. Diabetes 46:1660-1662.
86. 1997 Pancreatic Islet Expression studies and polymorphic DNA markers in the genes encoding hepatocyte nuclear factors HNF-3a, HNF-3b, HNF-3g, HNF-4g, and HNF-6 Diabetes 46:1364-1367.
87. 1997 Refinement of the commonly deleted segment in myeloid leukemias with a deletion on chromosome 20q Genes, Chromosomes and Cancer 21:75-81.
88. 1997 Role of G-protein coupled inwardly rectifying K+ channels for transmitter actions in hippocampal neurons. Neuron 19:687-695.
89. 1997 Defective GABAB receptor activated inwardly rectifying K+ currents in cerebellar granule cells isolated from weaver and GIRK2 knockout mice. Proc Natl Acad Sci USA. 94:12210-12217.
90. 1996 Mutations in hepatic nuclear factor 4 alpha gene in maturity-onset diabetes of the young (MODY1) Nature 384:458-460.
91. 1996 Human Leptin Receptor Gene: Localization and integration into the physical and genetic map of chromosome 1. Genomics 36:221-222.
92. 1996 Leptin mediated activation of Stat3 in the hypothalamus of wild type and ob/ob mice but not db/db mice Nature Genetics 14:95-97.
93. 1996 The human mitochondrial citrate transporter gene maps to chromosome 22q11 within a region implicated in DiGeorge syndrome, velo-cardia-facial syndrome and schizophrenia. Hum Genetics 98:113-115.
94. 1996 bsence of mutations in the human ob gene in obese/diabetic subjects   Diabetes 45:679-683.
95. 1996 A YAC-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene. Proc Natl Acad Sci USA 93:3937-3941.
96. 1996 Structural organization and mapping of the mitochondrial glycerol phosphate dehydrogenase gene and pseudogene. Gene 172: 309-312.
97. 1996 Mitochondrial FAD-glycerolphosphate dehydrogenase and G protein-coupled inwardly rectifying K+-channel GIRK1 - No evidence for linkage in MODY or NIDDM Diabetes 45:639-642.
98. 1995 Candidate gene studies in pedigrees with maturity-onset diabetes of the young characterizedby more severe diabetes than that associated with glucokinase mutations. Diabetologia 38: 1055-1060.
99. 1995 Human fructose-1,6-biphosphatase gene (FGBP1): Exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-biphosphatase deficiency. Genomics 27:520-525.
100. 1995 No evidence for mutations in the putative ß-cell ATP-sensitive K+-channel in MODY, NIDDM, or GDM Diabetes 44:597-599.
101. 1995 Assignment of the gastric inhibitory polypeptide receptor gene (GIPR) to chromosome bands 19q13.2-q13.3 by fluorescence in situ hybridization. Genomics 28:607-609.
102. 1995 Cloning and Expression Studies of an Islet ATP-Sensitive K+-Channel in Normal and Zucker Diabetic Fatty Rats   Biochem. Biophys. Res. Com. 212: 894-899.
103. 1995 Evolution of b-cell dysfunction in the male Zucker diabetic fatty rat Diabetes 44: 1447-1458.
104. 1995 Structure and function of ASP, the human homologue of the mouse agouti gene Hum Mol Genet. 2: 223-230.
105. 1995 The human homeodomain transcription factor XIHbox 8/STF-1 gene is located on chromosome band 13q12.1 Genomics 28: 125-126.
106. 1994 Human G-protein coupled inwardly rectifying potassium channel (GIRK1) gene (KCNF3): localization to chromosome 2 and identification of a simple tandem repeat polymorphism Genomics 21: 154-256.
107. 1994 Isolation of a cDNA clone encoding a KATP-channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies in Mexican Americans with NIDDM Diabetes 44: 592-59
108. 1994 Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20 Diabetes 44: 699-705.
109. 1994 Human type I pituitary adenylate cyclase activating polypeptide recepror (ADCYAP1R): localization to chromosome band 7p14 and integration into the cytogenetic, physical and genetic map of chromosome 7. Genomics 23: 697-699.
110. 1994 Distribution of G-protein activated inwardly rectifying potassium channel (GIRK1/KGA) mRNA in adult rat brain and heart by in situ hybridization histochemistry Mol Cell Neurosci 5: 515-522.
111. 1994 Glukokinase Defekte bei Patienten mit jugendlichem, nicht insulinabhängigem Diabetes mellitus Deutsches Ärzteblatt 42: 2853-2857.
112. 1994 Glucokinase mutations and impaired insulin secretion.: New insights into the pathogenesis of NIDDM In“Frontiers of Insulin secretion and Pancreatic ß-Cell Research”, edited by Flatt, P.R.
113. 1994 Glucokinase deficient diabetes mellitus: a subtype of non-insulin-dependent (Type 2) diabetes mellitus characterized by a defect in glucose-stimulated insulin secretion In Proceedings of the Fourth International Symposium on Treatment of Diabetes Mellitus: Pathogenesis and Treatment of NIDDM and its related Problems, Sakamoto, N., Alberti, K.G.M.M. and Hotta, N. Elsevier, Amsterdam, pp91-98.
114. 1994 Non-linkage of the glucagon-like peptide receptor gene with maturity onset diabetes of the young Diabetologia 37: 721-724.
115. 1994 Localization of glucagon receptor gene to human chromosome band 17q25 Genomics 20: 327-328.
116. 1994 Insulin secretion abnormalities in subjects with hyperglycemia due to glucokinase mutations J Clin Invest. 93:1120-1130.
117. 1994 Search for a third susceptibility gene for maturity-onset diabetes of the young: studies with eleven candidate genes   Diabetes 43: 389-395.
118. 1993 Molecular genetics of myeloid leucemia: identification of the commonly deleted segment of chromosome 20 Blood 82: 3424-3439.
119. 1993 Human hexokinase II: localization of the polymorphic gene to chromosome 2 Diabetologia 36:1299-1302.
120. 1993 Structure/function studies of human ß-cell glucokinase: enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants. J Biol Chem 268: 15200-15204.
121. 1993 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 Diabetes 42: 1215-1218.
122. 1993 Identification of glucokinase mutations in subjects with gestational diabetes mellitus. Diabetes 42: 937-940.
123. 1993 Mutations in the human glucokinase gene and diabetes mellitus Trends Endocrinol Metab 4: 86-90.
124. 1993 cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, Band q13.31: PCK is not tightly linked to maturity-onset diabetes of the young Hum Mol Genet 2: 1-4.
125. 1993 Human insulin receptor substrate-1 gene (IRS1): Chromosomal localization to 2q35-q36.1 and identification of a simple tandem repeat DNA polymorphism Diabetologia 36: 335-337.
126. 1993 Assignment of the gene encoding glycogen synthase (GYS) to human chromosome 19, bands q13.3   Genomics 15: 460-461.
127. 1993 Glucokinase mutations associated with non-insulin dependent (Type 2) diabetes mellitus have decreased enzymatic activity: Implications for structure/function relationships. Proc Natl Acad Sci USA 90: 1932-1936.
128. 1993 Human somatostatin receptor genes: localization to human chromosomes 14, 17, and 22, and identification of simple tandem repeat polymorphisms Genomics 15: 449-452.
129. 1993 Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus N Engl J Med 328: 697-702.
130. 1993 Characterization of a third simple tandem repeat polymorphism in the human glucokinase gene Diabetologia 36: 170-171.
131. 1992 Dinucleotide repeat polymorphism at the human ribophorin II locus (RPN2) on chromosome 20q Hum Mol Genet 1: 656-666.
132. 1992 Human glucokinase gene: Isolation, characterization and identification of two missense mutations linked to early-onset non-insulin-dependent (Type 2) diabetes mellitus. Proc Natl Acad Sci USA 89: 7698-7702.
133. 1992 Characterization of a missense glucokinase mutation in maturity-onset diabetes of the young (MODY) and mutation screening in late-onset diabetes. Nature Genetics 2: 153-156.
134. 1992 Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus Nature 356: 721-722. (*auhors contributed equally)
135. 1992 Microsatellite polymorphism in the human platelet glycoprotein IIIa (GP3A) on chromosome 17 Nucleic Acids Res 20: 1172-1173.
136. 1992 Human pancreatic ß-cell glucokinase: cDNA sequence and localization of the polymorphic gene to chromosome 7, band 7p13 Diabetologia 35: 743-747.
137. 1992 The UL16 gene of human cytomegalovirus encodes a glycoprotein that is dispensable for growth in vitro J Virol 66: 6609-6615.
138. 1992 The gene for erythropoetin receptor is expressed in multipotential hematopoetic and embryonal stem cells: evidence for differentiation stage-specific regulation Mol Cell Biol 12: 1815-1826.


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