Science 21 April 1995: Vol. 268. no. 5209, pp. 426 - 429 DOI: 10.1126/science.7716548

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Articles

3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency and Hyperinsulinemic Hypoglycemia: Characterization of a Novel Mutation and Severe Dietary Protein Sensitivity.

R. R. Kapoor, C. James, S. E. Flanagan, S. Ellard, S. Eaton, and K. Hussain (2009)
J. Clin. Endocrinol. Metab. 94, 2221-2225
 |  Abstract »  |  Full Text »  |  PDF »

Hyperinsulinaemic hypoglycaemia.

R R Kapoor, S E Flanagan, C James, J Shield, S Ellard, and K Hussain (2009)
Arch. Dis. Child. 94, 450-457
 |  Abstract »  |  Full Text »  |  PDF »

The genetic basis of congenital hyperinsulinism.

C James, R R Kapoor, D Ismail, and K Hussain (2009)
J. Med. Genet. 46, 289-299
 |  Abstract »  |  Full Text »  |  PDF »

KCNJ11 knockout morula re-engineered by stem cell diploid aggregation.

T. J Nelson, A. Martinez-Fernandez, and A. Terzic (2009)
Phil Trans R Soc B 364, 269-276
 |  Abstract »  |  Full Text »  |  PDF »

Metabolic cycling in control of glucose-stimulated insulin secretion.

M. V. Jensen, J. W. Joseph, S. M. Ronnebaum, S. C. Burgess, A. D. Sherry, and C. B. Newgard (2008)
Am J Physiol Endocrinol Metab 295, E1287-E1297
 |  Abstract »  |  Full Text »  |  PDF »

A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister.

M. Bruysters, S. Christin-Maitre, M. Verhoef-Post, C. Sultan, J. Auger, I. Faugeron, L. Larue, S. Lumbroso, A.P.N. Themmen, and P. Bouchard (2008)
Hum. Reprod. 23, 1917-1923
 |  Abstract »  |  Full Text »  |  PDF »

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation..

H. B T Christesen, N. D Tribble, A. Molven, J. Siddiqui, T. Sandal, K. Brusgaard, S. Ellard, P. R Njolstad, J. Alm, B. Brock Jacobsen, et al. (2008)
Eur. J. Endocrinol. 159, 27-34
 |  Abstract »  |  Full Text »  |  PDF »

Novel De Novo Mutation in Sulfonylurea Receptor 1 Presenting as Hyperinsulinism in Infancy Followed by Overt Diabetes in Early Adolescence.

M. Abdulhadi-Atwan, J. D. Bushman, S. Tornovsky-Babaey, A. Perry, A. Abu-Libdeh, B. Glaser, S.-L. Shyng, and D. H. Zangen (2008)
Diabetes 57, 1935-1940
 |  Abstract »  |  Full Text »  |  PDF »

Glucose Intolerance and Diabetes Are Observed in the Long-Term Follow-Up of Nonpancreatectomized Patients With Persistent Hyperinsulinemic Hypoglycemia of Infancy Due to Mutations in the ABCC8 Gene.

M. Gussinyer, M. Clemente, R. Cebrian, D. Yeste, M. Albisu, and A. Carrascosa (2008)
Diabetes Care 31, 1257-1259
 |  Abstract »  |  Full Text »  |  PDF »

Neonatal Diabetes Mellitus.

L. Aguilar-Bryan and J. Bryan (2008)
Endocr. Rev. 29, 265-291
 |  Abstract »  |  Full Text »  |  PDF »

CLC-0 and CFTR: Chloride Channels Evolved From Transporters.

T.-Y. Chen and T.-C. Hwang (2008)
Physiol Rev 88, 351-387
 |  Abstract »  |  Full Text »  |  PDF »

Role for SUR2A ED Domain in Allosteric Coupling within the KATP Channel Complex.

A. B. Karger, S. Park, S. Reyes, M. Bienengraeber, R. B. Dyer, A. Terzic, and A. E. Alekseev (2008)
J. Gen. Physiol. 131, 185-196
 |  Abstract »  |  Full Text »  |  PDF »

Hyperinsulinism in Infancy and Childhood: When an Insulin Level Is Not Always Enough.

A. A. Palladino, M. J. Bennett, and C. A. Stanley (2008)
Clin. Chem. 54, 256-263
 |  Abstract »  |  Full Text »  |  PDF »

Pathological Features of Aberrant Pancreatic Development in Congenital Hyperinsulinism Due to ABCC8 Mutations.

N. Brunetti-Pierri, O. O. Olutoye, R. Heptulla, and N. Tatevian (2008)
Ann. Clin. Lab. Sci. 38, 386-389
 |  Abstract »  |  Full Text »  |  PDF »

An ABCC8 Gene Mutation and Mosaic Uniparental Isodisomy Resulting in Atypical Diffuse Congenital Hyperinsulinism.

K. Hussain, S. E. Flanagan, V. V. Smith, M. Ashworth, M. Day, A. Pierro, and S. Ellard (2008)
Diabetes 57, 259-263
 |  Abstract »  |  Full Text »  |  PDF »

Mosaic Paternal Uniparental Isodisomy and an ABCC8 Gene Mutation in a Patient With Permanent Neonatal Diabetes and Hemihypertrophy.

J. P.H. Shield, S. E. Flanagan, D. J. Mackay, L. W. Harries, P. Proks, C. Girard, F. M. Ashcroft, I. K. Temple, and S. Ellard (2008)
Diabetes 57, 255-258
 |  Abstract »  |  Full Text »  |  PDF »

Alchemy in the Soup: Transforming Metabolic Signals to Excitability.

C. G. Nichols (2007)
Sci. STKE 2007, pe59
 |  Abstract »  |  Full Text »  |  PDF »

ATP-sensitive K+ channels and disease: from molecule to malady.

F. M. Ashcroft (2007)
Am J Physiol Endocrinol Metab 293, E880-E889
 |  Abstract »  |  Full Text »  |  PDF »

Protection conferred by myocardial ATP-sensitive K+ channels in pressure overload-induced congestive heart failure revealed in KCNJ11 Kir6.2-null mutant.

S. Yamada, G. C. Kane, A. Behfar, X.-K. Liu, R. B. Dyer, R. S. Faustino, T. Miki, S. Seino, and A. Terzic (2006)
J. Physiol. 577, 1053-1065
 |  Abstract »  |  Full Text »  |  PDF »

Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

I. Vorechovsky (2006)
Nucleic Acids Res.
 |  Abstract »  |  Full Text »  |  PDF »

ATP-sensitive potassium channels--neonatal diabetes mellitus and beyond..

M. A. Sperling (2006)
N. Engl. J. Med. 355, 507-510
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The Diagnosis of Ectopic Focal Hyperinsulinism of Infancy with [18F]-Dopa Positron Emission Tomography.

K. Hussain, M. Seppanen, K. Nanto-Salonen, N. S. Adzick, C. A. Stanley, P. Thornton, and H. Minn (2006)
J. Clin. Endocrinol. Metab. 91, 2839-2842
 |  Abstract »  |  Full Text »  |  PDF »

KCNJ11 gene knockout of the Kir6.2 KATP channel causes maladaptive remodeling and heart failure in hypertension.

G. C. Kane, A. Behfar, R. B. Dyer, D. F. O'Cochlain, X.-K. Liu, D. M. Hodgson, S. Reyes, T. Miki, S. Seino, and A. Terzic (2006)
Hum. Mol. Genet. 15, 2285-2297
 |  Abstract »  |  Full Text »  |  PDF »

Hyperinsulinemic Hypoglycemia After Gastric Bypass Surgery Is Not Accompanied by Islet Hyperplasia or Increased {beta}-Cell Turnover.

J. J. Meier, A. E. Butler, R. Galasso, and P. C. Butler (2006)
Diabetes Care 29, 1554-1559
 |  Abstract »  |  Full Text »  |  PDF »

A Novel KCNJ11 Mutation Associated with Congenital Hyperinsulinism Reduces the Intrinsic Open Probability of beta-Cell ATP-sensitive Potassium Channels.

Y.-W. Lin, C. MacMullen, A. Ganguly, C. A. Stanley, and S.-L. Shyng (2006)
J. Biol. Chem. 281, 3006-3012
 |  Abstract »  |  Full Text »  |  PDF »

Overview of Molecular Relationships in the Voltage-Gated Ion Channel Superfamily.

F. H. Yu, V. Yarov-Yarovoy, G. A. Gutman, and W. A. Catterall (2005)
Pharmacol. Rev. 57, 387-395
 |  Full Text »  |  PDF »

Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and {beta} cell failure.

J R Porter and T G Barrett (2005)
J. Med. Genet. 42, 893-902
 |  Abstract »  |  Full Text »  |  PDF »

Diabetes and Insulin Secretion: The ATP-Sensitive K+ Channel (KATP) Connection.

J. C. Koster, M. A. Permutt, and C. G. Nichols (2005)
Diabetes 54, 3065-3072
 |  Abstract »  |  Full Text »  |  PDF »

Serum Glucagon Counterregulatory Hormonal Response to Hypoglycemia Is Blunted in Congenital Hyperinsulinism.

K. Hussain, J. Bryan, H. T. Christesen, K. Brusgaard, and L. Aguilar-Bryan (2005)
Diabetes 54, 2946-2951
 |  Abstract »  |  Full Text »  |  PDF »

Severe Congenital Hyperinsulinism Caused by a Mutation in the Kir6.2 Subunit of the Adenosine Triphosphate-Sensitive Potassium Channel Impairing Trafficking and Function.

E. Marthinet, A. Bloc, Y. Oka, Y. Tanizawa, B. Wehrle-Haller, V. Bancila, J.-M. Dubuis, J. Philippe, and V. M. Schwitzgebel (2005)
J. Clin. Endocrinol. Metab. 90, 5401-5406
 |  Abstract »  |  Full Text »  |  PDF »

Hyperinsulinemic Hypoglycemia in Beckwith-Wiedemann Syndrome due to Defects in the Function of Pancreatic {beta}-Cell Adenosine Triphosphate-Sensitive Potassium Channels.

K. Hussain, K. E. Cosgrove, R. M. Shepherd, A. Luharia, V. V. Smith, S. Kassem, J. W. Gregory, A. Sivaprasadarao, H. T. Christesen, B. B. Jacobsen, et al. (2005)
J. Clin. Endocrinol. Metab. 90, 4376-4382
 |  Abstract »  |  Full Text »  |  PDF »

In vivo and in vitro functional characterization of Andersen's syndrome mutations.

S. Bendahhou, E. Fournier, D. Sternberg, G. Bassez, A. Furby, C. Sereni, M. R Donaldson, M.-M. Larroque, B. Fontaine, and J. Barhanin (2005)
J. Physiol. 565, 731-741
 |  Abstract »  |  Full Text »  |  PDF »

Characterization of Hyperinsulinism in Infancy Assessed with PET and 18F-Fluoro-L-DOPA.

M.-J. Ribeiro, P. De Lonlay, T. Delzescaux, N. Boddaert, F. Jaubert, S. Bourgeois, F. Dolle, C. Nihoul-Fekete, A. Syrota, and F. Brunelle (2005)
J. Nucl. Med. 46, 560-566
 |  Abstract »  |  Full Text »  |  PDF »

Activators of Cation Channels: Potential in Treatment of Channelopathies.

G. Seebohm (2005)
Mol. Pharmacol. 67, 585-588
 |  Abstract »  |  Full Text »  |  PDF »

Genotype-Phenotype Correlations in Children with Congenital Hyperinsulinism Due to Recessive Mutations of the Adenosine Triphosphate-Sensitive Potassium Channel Genes.

M. J. Henwood, A. Kelly, C. MacMullen, P. Bhatia, A. Ganguly, P. S. Thornton, and C. A. Stanley (2005)
J. Clin. Endocrinol. Metab. 90, 789-794
 |  Abstract »  |  Full Text »  |  PDF »

Hyperinsulinism of Infancy: Novel ABCC8 and KCNJ11 Mutations and Evidence for Additional Locus Heterogeneity.

S. Tornovsky, A. Crane, K. E. Cosgrove, K. Hussain, J. Lavie, M. Heyman, Y. Nesher, N. Kuchinski, E. Ben-Shushan, O. Shatz, et al. (2004)
J. Clin. Endocrinol. Metab. 89, 6224-6234
 |  Abstract »  |  Full Text »  |  PDF »

The VGL-Chanome: A Protein Superfamily Specialized for Electrical Signaling and Ionic Homeostasis.

F. H. Yu and W. A. Catterall (2004)
Sci. STKE 2004, re15
 |  Abstract »  |  Full Text »  |  PDF »

Characterization of Oligomeric Human ATP Binding Cassette Transporter A1: POTENTIAL IMPLICATIONS FOR DETERMINING THE STRUCTURE OF NASCENT HIGH DENSITY LIPOPROTEIN PARTICLES.

M. Denis, B. Haidar, M. Marcil, M. Bouvier, L. Krimbou, and J. Genest (2004)
J. Biol. Chem. 279, 41529-41536
 |  Abstract »  |  Full Text »  |  PDF »

Familial Leucine-Sensitive Hypoglycemia of Infancy Due to a Dominant Mutation of the {beta}-Cell Sulfonylurea Receptor.

S. N. Magge, S.-L. Shyng, C. MacMullen, L. Steinkrauss, A. Ganguly, L. E. L. Katz, and C. A. Stanley (2004)
J. Clin. Endocrinol. Metab. 89, 4450-4456
 |  Abstract »  |  Full Text »  |  PDF »

Disruption of Glucose Sensing and Insulin Secretion by Ribozyme Kir6.2-Gene Targeting in Insulin-Secreting Cells.

L. Li, A. Rojas, J. Wu, and C. Jiang (2004)
Endocrinology 145, 4408-4414
 |  Abstract »  |  Full Text »  |  PDF »

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.

A. L. Gloyn, E. A. Cummings, E. L. Edghill, L. W. Harries, R. Scott, T. Costa, I. K. Temple, A. T. Hattersley, and S. Ellard (2004)
J. Clin. Endocrinol. Metab. 89, 3932-3935
 |  Abstract »  |  Full Text »  |  PDF »

Severe Persistent Hyperinsulinemic Hypoglycemia due to a De Novo Glucokinase Mutation.

A. L. Cuesta-Munoz, H. Huopio, T. Otonkoski, J. M. Gomez-Zumaquero, K. Nanto-Salonen, J. Rahier, S. Lopez-Enriquez, M. A. Garcia-Gimeno, P. Sanz, F. C. Soriguer, et al. (2004)
Diabetes 53, 2164-2168
 |  Abstract »  |  Full Text »  |  PDF »

A Novel Syndrome of Autosomal-Dominant Hyperinsulinemic Hypoglycemia Linked to a Mutation in the Human Insulin Receptor Gene.

K. Hojlund, T. Hansen, M. Lajer, J. E. Henriksen, K. Levin, J. Lindholm, O. Pedersen, and H. Beck-Nielsen (2004)
Diabetes 53, 1592-1598
 |  Abstract »  |  Full Text »  |  PDF »

Restitution of defective glucose-stimulated insulin release of sulfonylurea type 1 receptor knockout mice by acetylcholine.

N. M. Doliba, W. Qin, M. Z. Vatamaniuk, C. Li, D. Zelent, H. Najafi, C. W. Buettger, H. W. Collins, R. D. Carr, M. A. Magnuson, et al. (2004)
Am J Physiol Endocrinol Metab 286, E834-E843
 |  Abstract »  |  Full Text »  |  PDF »

Open to Control -- New Hope for Patients with Neonatal Diabetes.

F. M. Gribble and F. Reimann (2004)
N. Engl. J. Med. 350, 1817-1818
 |  Full Text »  |  PDF »

Type 2 diabetes mellitus: not quite exciting enough?.

F. Ashcroft and P. Rorsman (2004)
Hum. Mol. Genet. 13, R21-R31
 |  Abstract »  |  Full Text »  |  PDF »

Preoperative Evaluation of Infants with Focal or Diffuse Congenital Hyperinsulinism by Intravenous Acute Insulin Response Tests and Selective Pancreatic Arterial Calcium Stimulation.

C. A. Stanley, P. S. Thornton, A. Ganguly, C. MacMullen, P. Underwood, P. Bhatia, L. Steinkrauss, L. Wanner, R. Kaye, E. Ruchelli, et al. (2004)
J. Clin. Endocrinol. Metab. 89, 288-296
 |  Abstract »  |  Full Text »  |  PDF »

Lack of Support for a Role of the Insulin Gene Variable Number of Tandem Repeats Minisatellite (INS-VNTR) Locus in Fetal Growth or Type 2 Diabetes-Related Intermediate Traits in United Kingdom Populations.

S. M. S. Mitchell, A. T. Hattersley, B. Knight, T. Turner, B. S. Metcalf, L. D. Voss, D. Davies, A. McCarthy, T. J. Wilkin, G. D. Smith, et al. (2004)
J. Clin. Endocrinol. Metab. 89, 310-317
 |  Abstract »  |  Full Text »  |  PDF »

Hyperinsulinism in Infancy: From Basic Science to Clinical Disease.

M. J. DUNNE, K. E. COSGROVE, R. M. SHEPHERD, A. AYNSLEY-GREEN, and K. J. LINDLEY (2004)
Physiol Rev 84, 239-275
 |  Abstract »  |  Full Text »  |  PDF »

Familial Hyperinsulinemic Hypoglycemia Caused by a Defect in the SCHAD Enzyme of Mitochondrial Fatty Acid Oxidation.

A. Molven, G. E. Matre, M. Duran, R. J. Wanders, U. Rishaug, P. R. Njolstad, E. Jellum, and O. Sovik (2004)
Diabetes 53, 221-227
 |  Abstract »  |  Full Text »  |  PDF »

Defective Potassium Channel Kir2.1 Trafficking Underlies Andersen-Tawil Syndrome.

S. Bendahhou, M. R. Donaldson, N. M. Plaster, M. Tristani-Firouzi, Y.-H. Fu, and L. J. Ptacek (2003)
J. Biol. Chem. 278, 51779-51785
 |  Abstract »  |  Full Text »  |  PDF »

Clinical and Molecular Characterization of a Dominant Form of Congenital Hyperinsulinism Caused by a Mutation in the High-Affinity Sulfonylurea Receptor.

P. S. Thornton, C. MacMullen, A. Ganguly, E. Ruchelli, L. Steinkrauss, A. Crane, L. Aguilar-Bryan, and C. A. Stanley (2003)
Diabetes 52, 2403-2410
 |  Abstract »  |  Full Text »  |  PDF »

The Distribution of Abcc6 in Normal Mouse Tissues Suggests Multiple Functions for this ABC Transporter.

K. Beck, K. Hayashi, B. Nishiguchi, O. Le Saux, M. Hayashi, and C. D. Boyd (2003)
J. Histochem. Cytochem. 51, 887-902
 |  Abstract »  |  Full Text »  |  PDF »

The Focal Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy: Morphological and Molecular Studies Show Structural and Functional Differences With Insulinoma.

C. Sempoux, Y. Guiot, K. Dahan, P. Moulin, M. Stevens, V. Lambot, P. d. Lonlay, J.-C. Fournet, C. Junien, F. Jaubert, et al. (2003)
Diabetes 52, 784-794
 |  Abstract »  |  Full Text »  |  PDF »

cAMP induces ABCA1 phosphorylation activity and promotes cholesterol efflux from fibroblasts.

B. Haidar, M. Denis, L. Krimbou, M. Marcil, and J. Genest Jr. (2002)
J. Lipid Res. 43, 2087-2094
 |  Abstract »  |  Full Text »  |  PDF »

Advances in Diagnosis and Treatment of Hyperinsulinism in Infants and Children.

C. A. Stanley (2002)
J. Clin. Endocrinol. Metab. 87, 4857-4859
 |  Full Text »  |  PDF »

Ion channel diseases.

C. A. Hubner and T. J. Jentsch (2002)
Hum. Mol. Genet. 11, 2435-2445
 |  Abstract »  |  Full Text »  |  PDF »

Glucagon-Like Peptide-1 Inhibits Pancreatic ATP-Sensitive Potassium Channels via a Protein Kinase A- and ADP-Dependent Mechanism.

P. E. Light, J. E. Manning Fox, M. J. Riedel, and M. B. Wheeler (2002)
Mol. Endocrinol. 16, 2135-2144
 |  Abstract »  |  Full Text »  |  PDF »

Diabetes and insulin secretion: whither KATP?.

C. G. Nichols and J. C. Koster (2002)
Am J Physiol Endocrinol Metab 283, E403-E412
 |  Abstract »  |  Full Text »  |  PDF »

Hypoglycemia after Pancreas Transplantation: Association with Allograft Nesidiodysplasia and Expression of Islet Neogenesis-Associated Peptide.

C. Semakula, S. Pambuccian, R. Gruessner, D. Kendall, G. Pittenger, A. Vinik, and E. R. Seaquist (2002)
J. Clin. Endocrinol. Metab. 87, 3548-3554
 |  Abstract »  |  Full Text »  |  PDF »

KATP channels and insulin secretion disorders.

H. Huopio, S.-L. Shyng, T. Otonkoski, and C. G. Nichols (2002)
Am J Physiol Endocrinol Metab 283, E207-E216
 |  Abstract »  |  Full Text »  |  PDF »

Foxa2 (HNF3beta ) Controls Multiple Genes Implicated in Metabolism-Secretion Coupling of Glucose-induced Insulin Release.

H. Wang, B. R. Gauthier, K. A. Hagenfeldt-Johansson, M. Iezzi, and C. B. Wollheim (2002)
J. Biol. Chem. 277, 17564-17570
 |  Abstract »  |  Full Text »  |  PDF »

Loss of ATP-dependent Transport Activity in Pseudoxanthoma Elasticum-associated Mutants of Human ABCC6 (MRP6).

A. Ilias, Z. Urban, T. L. Seidl, O. Le Saux, E. Sinko, C. D. Boyd, B. Sarkadi, and A. Varadi (2002)
J. Biol. Chem. 277, 16860-16867
 |  Abstract »  |  Full Text »  |  PDF »

Transactivation of the Mouse Sulfonylurea Receptor I Gene by BETA2/NeuroD.

J.-W. Kim, V. Seghers, J.-H. Cho, Y. Kang, S. Kim, Y. Ryu, K. Baek, L. Aguilar-Bryan, Y.-D. Lee, J. Bryan, et al. (2002)
Mol. Endocrinol. 16, 1097-1107
 |  Abstract »  |  Full Text »  |  PDF »

Compound Heterozygosity for the Common Sulfonylurea Receptor Mutations Can Cause Mild Diazoxide-Sensitive Hyperinsulinism.

B. Dekel, D. Lubin, D. Modan-Moses, J. Quint, B. Glaser, and J. Meyerovitch (2002)
Clinical Pediatrics 41, 183-186
 |  Abstract »  |  PDF »

The role of genetic susceptibility in the association of low birth weight with type 2 diabetes.

T. M Frayling and A. T Hattersley (2001)
Br. Med. Bull. 60, 89-101
 |  Abstract »  |  Full Text »  |  PDF »

The human ATP-binding cassette (ABC) transporter superfamily.

M. Dean, Y. Hamon, and G. Chimini (2001)
J. Lipid Res. 42, 1007-1017
 |  Abstract »  |  Full Text »  |  PDF »

Tissue-specific deletion of Foxa2 in pancreatic {beta} cells results in hyperinsulinemic hypoglycemia.

N. J. Sund, M. Z. Vatamaniuk, M. Casey, S.-L. Ang, M. A. Magnuson, D. A. Stoffers, F. M. Matschinsky, and K. H. Kaestner (2001)
Genes & Dev. 15, 1706-1715
 |  Abstract »  |  Full Text »  |  PDF »

Unbalanced Expression of 11p15 Imprinted Genes in Focal Forms of Congenital Hyperinsulinism : Association with a Reduction to Homozygosity of a Mutation in ABCC8 or KCNJ11.

J.-C. Fournet, C. Mayaud, P. de Lonlay, M.-S. Gross-Morand, V. Verkarre, M. Castanet, M. Devillers, J. Rahier, F. Brunelle, J.-J. Robert, et al. (2001)
Am. J. Pathol. 158, 2177-2184
 |  Abstract »  |  Full Text »  |  PDF »

Hyperinsulinism/Hyperammonemia Syndrome in Children with Regulatory Mutations in the Inhibitory Guanosine Triphosphate-Binding Domain of Glutamate Dehydrogenase.

C. MacMullen, J. Fang, B. Y. L. Hsu, A. Kelly, P. de Lonlay-Debeney, J.-M. Saudubray, A. Ganguly, T. J. Smith, and C. A. Stanley (2001)
J. Clin. Endocrinol. Metab. 86, 1782-1787
 |  Abstract »  |  Full Text »

Neurologic Outcomes of 90 Neonates and Infants With Persistent Hyperinsulinemic Hypoglycemia.

F. Menni, P. de Lonlay, C. Sevin, G. Touati, C. Peigné, V. Barbier, C. Nihoul-Fékété, J.-M. Saudubray, and J.-J. Robert (2001)
Pediatrics 107, 476-479
 |  Abstract »  |  Full Text »

Exercise induced hypoglycaemic hyperinsulinism.

T Meissner, T Otonkoski, R Feneberg, B Beinbrech, S Apostolidou, I Sipilä, F Schaefer, and E Mayatepek (2001)
Arch. Dis. Child. 84, 254-257
 |  Abstract »  |  Full Text »

ATP-Binding Cassette Transporter ABC2/ABCA2 in the Rat Brain: A Novel Mammalian Lysosome-Associated Membrane Protein and a Specific Marker for Oligodendrocytes But Not for Myelin Sheaths.

C.-J. Zhou, L.-X. Zhao, N. Inagaki, J.-L. Guan, S. Nakajo, T. Hirabayashi, S. Kikuyama, and S. Shioda (2001)
J. Neurosci. 21, 849-857
 |  Abstract »  |  Full Text »  |  PDF »

Dysregulation of Insulin Secretion in Children With Congenital Hyperinsulinism due to Sulfonylurea Receptor Mutations.

A. Grimberg, R.J. Ferry Jr., A. Kelly, S. Koo-McCoy, K. Polonsky, B. Glaser, M.A. Permutt, L. Aguilar-Bryan, D. Stafford, P.S. Thornton, et al. (2001)
Diabetes 50, 322-328
 |  Abstract »  |  Full Text »

Inhibition of Protein Synthesis Sequentially Impairs Distinct Steps of Stimulus-secretion Coupling in Pancreatic {beta} Cells.

M.-J. Garcia-Barrado, M. A. Ravier, J.-F. Rolland, P. Gilon, M. Nenquin, and J.-C. Henquin (2001)
Endocrinology 142, 299-307
 |  Abstract »  |  Full Text »  |  PDF »

Glucose- and arginine-induced insulin secretion by human pancreatic {beta}-cells: the role of HERG K+ channels in firing and release.

B. ROSATI, P. MARCHETTI, O. CROCIANI, M. LECCHI, R. LUPI, A. ARCANGELI, M. OLIVOTTO, and E. WANKE (2000)
FASEB J 14, 2601-2610
 |  Abstract »  |  Full Text »

Potassium Channels: Molecular Defects, Diseases, and Therapeutic Opportunities.

C.-C. Shieh, M. Coghlan, J. P. Sullivan, and M. Gopalakrishnan (2000)
Pharmacol. Rev. 52, 557-594
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Neonatal Insulin Secretion and Persistent Hyperinsulinemia of Infancy.

P. M. Thomas (2000)
NeoReviews 1, e210-214
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MTABC3, a Novel Mitochondrial ATP-binding Cassette Protein Involved in Iron Homeostasis.

N. Mitsuhashi, T. Miki, H. Senbongi, N. Yokoi, H. Yano, M. Miyazaki, N. Nakajima, T. Iwanaga, Y. Yokoyama, T. Shibata, et al. (2000)
J. Biol. Chem. 275, 17536-17540
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Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds.

M. E. Brousseau, E. J. Schaefer, J. Dupuis, B. Eustace, P. Van Eerdewegh, A. L. Goldkamp, L. M. Thurston, M. G. FitzGerald, D. Yasek-McKenna, G. O'Neill, et al. (2000)
J. Lipid Res. 41, 433-441
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Genetics of neonatal hyperinsulinism.

B. Glaser, P. Thornton, T. Otonkoski, and C. Junien (2000)
Arch. Dis. Child. Fetal Neonatal Ed. 82, 79F-86
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Hyperinsulinism of infancy: towards an understanding of unregulated insulin release.

R. M Shepherd, K. E Cosgrove, R. E O'Brien, P. D Barnes, C. Ämmälä, and M. J Dunne (2000)
Arch. Dis. Child. Fetal Neonatal Ed. 82, 87F-97
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Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis.

J Rahier, Y Guiot, and C Sempoux (2000)
Arch. Dis. Child. Fetal Neonatal Ed. 82, 108F-112
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Interactions of the Sulfonylurea Receptor 1 Subunit in the Molecular Assembly of beta -Cell KATP Channels.

M. V. Mikhailov and S. J. H. Ashcroft (2000)
J. Biol. Chem. 275, 3360-3364
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Engineering a Glucose-responsive Human Insulin-secreting Cell Line from Islets of Langerhans Isolated from a Patient with Persistent Hyperinsulinemic Hypoglycemia of Infancy.

W. M. MacFarlane, J. C. Chapman, R. M. Shepherd, M. N. Hashmi, N. Kamimura, K. E. Cosgrove, R. E. O'Brien, P. D. Barnes, A. W. Hart, H. M. Docherty, et al. (1999)
J. Biol. Chem. 274, 34059-34066
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Defects in inositol 1,4,5-trisphosphate receptor expression, Ca2+ signaling, and insulin secretion in the anx7(+/-) knockout mouse.

M. Srivastava, I. Atwater, M. Glasman, X. Leighton, G. Goping, H. Caohuy, G. Miller, J. Pichel, H. Westphal, D. Mears, et al. (1999)
PNAS 96, 13783-13788
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Channelopathies of inwardly rectifying potassium channels.

M. R. ABRAHAM, A. JAHANGIR, A. E. ALEKSEEV, and A. TERZIC (1999)
FASEB J 13, 1901-1910
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A Novel Sulfonylurea Receptor Family Member Expressed in the Embryonic Drosophila Dorsal Vessel and Tracheal System.

I. Nasonkin, A. Alikasifoglu, C. Ambrose, P. Cahill, M. Cheng, A. Sarniak, M. Egan, and P. M. Thomas (1999)
J. Biol. Chem. 274, 29420-29425
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Role of the sulfonylurea receptor in regulating human adipocyte metabolism.

H. SHI, N. MOUSTAID-MOUSSA, W. O. WILKISON, and M. B. ZEMEL (1999)
FASEB J 13, 1833-1838
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Voltage-Gated Ion Channels and Hereditary Disease.

F. Lehmann-Horn and K. Jurkat-Rott (1999)
Physiol Rev 79, 1317-1372
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Relative Hypoglycemia and Hyperinsulinemia in Mice with Heterozygous Lipoprotein Lipase (LPL) Deficiency. ISLET LPL REGULATES INSULIN SECRETION.

B. A. Marshall, K. Tordjman, H. H. Host, N. J. Ensor, G. Kwon, C. A. Marshall, T. Coleman, M. L. McDaniel, and C. F. Semenkovich (1999)
J. Biol. Chem. 274, 27426-27432
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CLINICAL REVIEW 109: Contrasting Paradigms for Hereditary Hyperfunction of Endocrine Cells.

S. J. Marx (1999)
J. Clin. Endocrinol. Metab. 84, 3001-3009
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Suppression of Insulin Oversecretion by Subcutaneous Recombinant Human Insulin-Like Growth Factor I in Children with Congenital Hyperinsulinism Due to Defective {beta}-Cell Sulfonylurea Receptor.

L. E. Levitt Katz, R. J. Ferry Jr., C. A. Stanley, P. F. Collett-Solberg, L. Baker, and P. Cohen (1999)
J. Clin. Endocrinol. Metab. 84, 3117-3124
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Characterization of the Mouse Sulfonylurea Receptor 1 Promoter and Its Regulation.

C. Hernandez-Sanchez, Y. Ito, J. Ferrer, M. Reitman, and D. LeRoith (1999)
J. Biol. Chem. 274, 18261-18270
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Noninsulinoma Pancreatogenous Hypoglycemia: A Novel Syndrome of Hyperinsulinemic Hypoglycemia in Adults Independent of Mutations in Kir6.2 and SUR1 Genes.

F. J. Service, N. Natt, G. B. Thompson, C. S. Grant, J. A. van Heerden, J. C. Andrews, E. Lorenz, A. Terzic, and R. V. Lloyd (1999)
J. Clin. Endocrinol. Metab. 84, 1582-1589
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Cloning of a New Mouse Two-P Domain Channel Subunit and a Human Homologue with a Unique Pore Structure.

M. Salinas, R. Reyes, F. Lesage, M. Fosset, C. Heurteaux, G. Romey, and M. Lazdunski (1999)
J. Biol. Chem. 274, 11751-11760
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Clinical Features of 52 Neonates with Hyperinsulinism.

P. de Lonlay-Debeney, F. Poggi-Travert, J.-C. Fournet, C. Sempoux, C. D. Vici, F. Brunelle, G. Touati, J. Rahier, C. Junien, C. Nihoul-Fekete, et al. (1999)
N. Engl. J. Med. 340, 1169-1175
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