Activating Mutations in the ABCC8 Gene in Neonatal Diabetes Mellitus
Open accessAbstract
BACKGROUND: The ATP-sensitive potassium (K(ATP)) channel, composed of the beta-cell proteins sulfonylurea receptor (SUR1) and inward-rectifying potassium channel subunit Kir6.2, is a key regulator of insulin release. It is inhibited by the binding of adenine nucleotides to subunit Kir6.2, which closes the channel, and activated by nucleotide binding or hydrolysis on SUR1, which opens the channel. The balance of these opposing actions determines the low open-channel probability, P(O), which controls the excitability of pancreatic beta cells. We hypothesized that activating mutations in ABCC8, which encodes SUR1, cause neonatal diabetes. METHODS: We screened the 39 exons of ABCC8 in 34 patients with permanent or transient neonatal diabetes of unknown origin. We assayed the electrophysiologic activity of mutant and wild-type K(ATP) channels. RESULTS: We identified seven missense mutations in nine patients. Four mutations were familial and showed vertical transmission with neonatal and adult-onset diabetes; the remaining mutations were not transmitted and not found in more than 300 patients without diabetes or with early-onset diabetes of similar genetic background. Mutant channels in intact cells and in physiologic concentrations of magnesium ATP had a markedly higher P(O) than did wild-type channels. These overactive channels remained sensitive to sulfonylurea, and treatment with sulfonylureas resulted in euglycemia. CONCLUSIONS: Dominant mutations in ABCC8 accounted for 12 percent of cases of neonatal diabetes in the study group. Diabetes results from a newly discovered mechanism whereby the basal magnesium-nucleotide-dependent stimulatory action of SUR1 on the Kir pore is elevated and blockade by sulfonylureas is preserved.
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Neonatal diabetes due to Kir6.2 or SUR1 mutations can be treated with high-dose sulfonylureas despite being insulin dependent.
“can be treated with high-dose sulfonylureas despite being insulin dependent also provide a compelling case for genetic evaluation of monogenic diabetes with therapeutic and prognostic implications ( 2 – 6 ).”
From β-Cell Failure in Type 2 Diabetes: Postulated Mechanisms and Prospects for Prevention and Treatment (2014) · cites this paper as [5]
The Clinical Studies and Diabetes sections report that patients with SUR1 mutations switched from insulin to sulfonylureas at doses at the high end of, or above, recommended adult doses. The Discussion reports sulfonylurea efficacy for Kir6.2 mutations, but does not establish the high-dose qualifier for those patients. It also says genetic testing has implications for counseling and therapy. (LLM, conf=0.86)
Experimental — accuracy not yet measuredNeonatal diabetes is most commonly due to activating mutations in genes encoding the ATP-sensitive potassium channel subunits Kir6.2 or SUR1.
“Findings that neonatal diabetes is most commonly due to activating mutations in genes encoding the ATP-sensitive potassium channel subunits Kir6.2 or SUR1”
From β-Cell Failure in Type 2 Diabetes: Postulated Mechanisms and Prospects for Prevention and Treatment (2014) · cites this paper as [5]
The Methods report KCNJ11 mutations, which affect Kir6.2, in 18% of the study group and chromosome 6q24 abnormalities in 34%. The Abstract reports ABCC8 mutations, which affect SUR1, in 12%. The paper supports that mutations in either channel subunit can cause neonatal diabetes, but its figures do not support calling them the most common cause overall. (LLM, conf=0.90)
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Cites
1 retracted
Chang, G. A. (2003) · Journal of Molecular Biology · doi:10.1016/s0022-2836(03)00587-4 · Cited by 260 · see citing works
RetractedBennett, C. L., Christie, J., Ramsdell, F., Brunkow, M., Ferguson, P., Whitesell, L., Kelly, T., Saulsbury, F., Chance, P., & Ochs, H. (2001) · Nature Genetics · doi:10.1038/83713 · Cited by 3,576 · see citing works
Inagaki, N., Gonoi, T., Clement, J. P., Namba, N., Inazawa, J., Gonzalez, G., Aguilar-Bryan, L., Seino, S., & Bryan, J. (1995) · Science · doi:10.1126/science.270.5239.1166 · Cited by 1,709 · see citing works
Self-citationCloning of the β Cell High-Affinity Sulfonylurea Receptor: a Regulator of Insulin Secretion
Aguilar-Bryan, L., Nichols, C. G., Wechsler, S. W., Clement, J. P., Boyd, A. E., González, G., Herrera-Sosa, H., Nguy, K., Bryan, J., & Nelson, D. A. (1995) · Science · doi:10.1126/science.7716547 · Cited by 1,315 · see citing works
Self-citationGloyn, A. L., Pearson, E. R., Antcliff, J. F., Proks, P., Bruining, G. J., Slingerland, A. S., Howard, N., Srinivasan, S., Silva, J. M. C. L., Molnes, J., et al. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa032922 · Cited by 1,137 · see citing works
Stoffers, D. A., Zinkin, N. T., Stanojevic, V., Clarke, W. L., & Habener, J. F. (1997) · Nature Genetics · doi:10.1038/ng0197-106 · Cited by 1,103 · see citing works
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
Pearson, E. R., Flechtner, I., Njølstad, P. R., Malecki, M. T., Flanagan, S. E., Larkin, B., Ashcroft, F. M., Klimes, I., Codner, E., Iotova, V., et al. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa061759 · Cited by 988 · see citing works
Self-citationDelépine, M., Nicolino, M., Barrett, T., Golamaully, M., Mark Lathrop, G., & Julier, C. (2000) · Nature Genetics · doi:10.1038/78085 · Cited by 813 · see citing works
Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor
Tucker, S. J., Gribble, F. M., Zhao, C., Trapp, S., & Ashcroft, F. M. (1997) · Nature · doi:10.1038/387179a0 · Cited by 753 · see citing works
Association and Stoichiometry of KATP Channel Subunits
Clement, J. P., Kunjilwar, K., Gonzalez, G., Schwanstecher, M., Panten, U., Aguilar-Bryan, L., & Bryan, J. (1997) · Neuron · doi:10.1016/s0896-6273(00)80321-9 · Cited by 692 · see citing works
Self-citationAdenosine Diphosphate as an Intracellular Regulator of Insulin Secretion
Nichols, C. G., Shyng, S., Nestorowicz, A., Gläser, B., Clement, J. P., González, G., Aguilar‐Bryan, L., Permutt, M. A., & Bryan, J. (1996) · Science · doi:10.1126/science.272.5269.1785 · Cited by 525 · see citing works
Self-citationOctameric Stoichiometry of the KATP Channel Complex
Shyng, S., & Nichols, C. G. (1997) · The Journal of General Physiology · doi:10.1085/jgp.110.6.655 · Cited by 495 · see citing works
Mutations in PTF1A cause pancreatic and cerebellar agenesis
Sellick, G. S., Barker, K. T., Stolte‐Dijkstra, I., Fleischmann, C., Coleman, R. J., Garrett, C., Gloyn, A. L., Edghill, E. L., Hattersley, A. T., Wellauer, P. K., et al. (2004) · Nature Genetics · doi:10.1038/ng1475 · Cited by 450 · see citing works
Neonatal Diabetes Mellitus Due to Complete Glucokinase Deficiency
Njølstad, P. R., Sövik, O., Cuesta-Muñoz, A. L., Bjørkhaug, L., Massa, O., Barbetti, F., Undlien, D. E., Shiota, C., Magnuson, M. A., Molven, A., et al. (2001) · New England Journal of Medicine · doi:10.1056/nejm200105243442104 · Cited by 420 · see citing works
Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes
Koster, J. C., Marshall, B. A., Ensor, N. J., Corbett, J. A., & Nichols, C. G. (2000) · Cell · doi:10.1016/s0092-8674(00)80701-1 · Cited by 287 · see citing works
A Novel Method for Measurement of Submembrane ATP Concentration
Gribble, F. M., Loussouarn, G., Tucker, S. J., Zhao, C., Nichols, C. G., & Ashcroft, F. M. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m001010200 · Cited by 280 · see citing works
Subunit stoichiometry of the pancreatic β‐cell ATP‐sensitive K+ channel
Inagaki, N., Gonoi, T., & Seino, S. (1997) · FEBS Letters · doi:10.1016/s0014-5793(97)00488-2 · Cited by 267 · see citing works
Proks, P., Antcliff, J. F., Lippiat, J. D., Gloyn, A. L., Hattersley, A. T., & Ashcroft, F. M. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0404756101 · Cited by 232 · see citing works
An imprinted locus associated with transient neonatal diabetes mellitus
Gardner, R. J. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.4.589 · Cited by 212 · see citing works
Proks, P., Arnold, A. L., Bruining, J., Girard, C. A. J., Flanagan, S. E., Larkin, B., Colclough, K., Hattersley, A. T., Ashcroft, F. M., & Ellard, S. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl101 · Cited by 209 · see citing works
Vaxillaire, M., Populaire, C., Busiah, K., Cavé, H., Gloyn, A. L., Hattersley, A. T., Czernichow, P., Froguel, P., & Polak, M. (2004) · Diabetes · doi:10.2337/diabetes.53.10.2719 · Cited by 182 · see citing works
Self-citationShyng, S., Ferrigni, T., Shepard, J. B., Nestorowicz, A., Gläser, B., Permutt, M. A., & Nichols, C. G. (1998) · Diabetes · doi:10.2337/diabetes.47.7.1145 · Cited by 165 · see citing works
Gribble, F. M., Tucker, S. J., & Ashcroft, F. M. (1997) · The Journal of Physiology · doi:10.1111/j.1469-7793.1997.00035.x · Cited by 161 · see citing works
SUR Domains That Associate with and Gate KATP Pores Define a Novel Gatekeeper
Babenko, A. P., & Bryan, J. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.c300363200 · Cited by 149 · see citing works
Self-citationToward Linking Structure With Function in ATP-Sensitive K+ Channels
Bryan, J., Vila‐Carriles, W. H., Zhao, G., Babenko, A. P., & Aguilar‐Bryan, L. (2004) · Diabetes · doi:10.2337/diabetes.53.suppl_3.s104 · Cited by 106 · see citing works
Self-citationNeonatal diabetes mellitus: Chromosomal analysis in transient and permanent cases
Metz, C., Cavé, H., Bertrand, A., Deffert, C., Gueguen-Giroux, B., Czernichow, P., & Polak, M. (2002) · The Journal of Pediatrics · doi:10.1067/mpd.2002.127089 · Cited by 103 · see citing works
Self-citationKlupa, T., Edghill, E. L., Nazim, J., Sieradzki, J., Ellard, S., Hattersley, A. T., & Malecki, M. T. (2005) · Diabetologia · doi:10.1007/s00125-005-1731-5 · Cited by 67 · see citing works
X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea.
Peake, J., McCrossin, R., Byrne, G., & Shepherd, R. W. (1996) · Archives of Disease in Childhood Fetal & Neonatal · doi:10.1136/fn.74.3.f195 · Cited by 64 · see citing works
Babenko, A. P., Gonzalez, G., & Bryan, J. (1999) · FEBS Letters · doi:10.1016/s0014-5793(99)01215-6 · Cited by 63 · see citing works
Self-citationBabenko, A. P., González, G., Aguilar-Bryan, L., & Bryan, J. (1999) · FEBS Letters · doi:10.1016/s0014-5793(99)00102-7 · Cited by 49 · see citing works
Self-citationBabenko, A. P., & Bryan, J. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m108763200 · Cited by 48 · see citing works
Self-citationK channels “vingt ans après”: ATG to PDB to Mechanism
Babenko, A. P. (2005) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2004.12.004 · Cited by 28 · see citing works
Self-citation
Flagged first, then by citations
1 of the 33 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Report of the Committee on the Classification and Diagnostic Criteria of Diabetes Mellitus
Seino, Y., Nanjo, K., Tajima, N., Kadowaki, T., Kashiwagi, A., Araki, E., Ito, C., Inagaki, N., Iwamoto, Y., Kasuga, M., et al. (2010) · Journal of Diabetes Investigation · doi:10.1111/j.2040-1124.2010.00074.x · Cited by 1,790 · see citing works
Mahajan, A., Taliun, D., Thurner, M., Robertson, N. R., Torres, J. M., Rayner, N. W., Payne, A. J., Steinthorsdottir, V., Scott, R. A., Grarup, N., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0241-6 · Cited by 1,744 · see citing works
Self-citationInwardly Rectifying Potassium Channels: Their Structure, Function, and Physiological Roles
Hibino, H., Inanobe, A., Furutani, K., Murakami, S., Findlay, I., & Kurachi, Y. (2010) · Physiological Reviews · doi:10.1152/physrev.00021.2009 · Cited by 1,579 · see citing works
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
Pearson, E. R., Flechtner, I., Njølstad, P. R., Malecki, M. T., Flanagan, S. E., Larkin, B., Ashcroft, F. M., Klimes, I., Codner, E., Iotova, V., et al. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa061759 · Cited by 988 · see citing works
Self-citationPancreatic β-Cell Electrical Activity and Insulin Secretion: Of Mice and Men
Rorsman, P., & Ashcroft, F. M. (2018) · Physiological Reviews · doi:10.1152/physrev.00008.2017 · Cited by 793 · see citing works
Handelsman, Y., Bloomgarden, Z. T., Grunberger, G., Umpierrez, G. E., Zimmerman, R. S., Bailey, T. S., Blonde, L., Bray, G. A., Cohen, A. J., Dagogo-Jack, S. E., et al. (2015) · Endocrine Practice · doi:10.4158/ep15672.gl · Cited by 645 · see citing works
In utero undernourishment perturbs the adult sperm methylome and intergenerational metabolism
Radford, E. J., Ito, M., Shi, H., Corish, J. A., Yamazawa, K., ISGANAITIS, E. M., Seisenberger, S., Hore, T. A., Reik, W., Erkek, S., et al. (2014) · Science · doi:10.1126/science.1255903 · Cited by 627 · see citing works
Seino, Y., Nanjo, K., Tajima, N., Kadowaki, T., Kashiwagi, A., Araki, E., Ito, C., Inagaki, N., Iwamoto, Y., Kasuga, M., et al. (2010) · Diabetology International · doi:10.1007/s13340-010-0006-7 · Cited by 614 · see citing works
Handelsman, Y., Bloomgarden, Z. T., Grunberger, G., Umpierrez, G., Zimmerman, R. S., Bailey, T. S., Blonde, L., Bray, G. A., Cohen, A. J., Dagogo-Jack, S., et al. (2015) · Endocrine Practice · doi:10.4158/ep15672.glsuppl · Cited by 559 · see citing works
Handelsman, Y., Mechanick, J. I., Blonde, L., Grunberger, G., Bloomgarden, Z. T., Bray, G. A., Dagogo-Jack, S., Davidson, J. A., Einhorn, D., Ganda, O., et al. (2011) · Endocrine Practice · doi:10.4158/ep.17.s2.1 · Cited by 513 · see citing works
Clinical implications of a molecular genetic classification of monogenic β-cell diabetes
Murphy, R., Ellard, S., & Hattersley, A. T. (2008) · Nature Clinical Practice Endocrinology & Metabolism · doi:10.1038/ncpendmet0778 · Cited by 502 · see citing works
Osbak, K. K., Colclough, K., Saint‐Martin, C., Beer, N. L., Bellanné‐Chantelot, C., Ellard, S., & Gloyn, A. L. (2009) · Human Mutation · doi:10.1002/humu.21110 · Cited by 487 · see citing works
β-Cell Failure in Type 2 Diabetes: Postulated Mechanisms and Prospects for Prevention and Treatment
Halban, P. A., Polonsky, K. S., Bowden, D. W., Hawkins, M. A., Ling, C., Mather, K. J., Powers, A. C., Rhodes, C. J., Sussel, L., & Weir, G. C. (2014) · Diabetes Care · doi:10.2337/dc14-0396 · Cited by 460 · see citing works
“evaluation of monogenic diabetes with therapeutic and prognostic implications (2-6).”
BackgroundPearson, E. R., Boj, S. F., Steele, A. M., Barrett, T. G., Stals, K. L., Hamilton-Shield, J. P., Ellard, S., Ferrer, J. P., & Hattersley, A. T. (2007) · PLoS Medicine · doi:10.1371/journal.pmed.0040118 · Cited by 435 · see citing works
The genetics of type 2 diabetes: what have we learned from GWAS?
Billings, L. K., & Florez, J. C. (2010) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2010.05838.x · Cited by 402 · see citing works
Chung, W. K., Erion, K., Florez, J. C., Hattersley, A. T., Hivert, M.-F., Lee, C. G., McCarthy, M. I., Nolan, J. J., Norris, J. M., Pearson, E. R., et al. (2020) · Diabetes Care · doi:10.2337/dci20-0022 · Cited by 400 · see citing works
Insulin Mutation Screening in 1,044 Patients With Diabetes
Edghill, E. L., Flanagan, S. E., Patch, A.-M., Boustred, C., Parrish, A., Shields, B., Shepherd, M. H., Hussain, K., Kapoor, R. R., Malecki, M., et al. (2008) · Diabetes · doi:10.2337/db07-1405 · Cited by 397 · see citing works
Pharmacogenomics: current status and future perspectives
Pirmohamed, M. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-022-00572-8 · Cited by 390 · see citing works
Alam, S., Hasan, M. K., Neaz, S., Hussain, N., Hossain, M. F., & Rahman, T. (2021) · Diabetology · doi:10.3390/diabetology2020004 · Cited by 381 · see citing works
Flanagan, S. E., Patch, A., Mackay, D., Edghill, E. L., Gloyn, A. L., Robinson, D., Hamilton-Shield, J. P., Temple, I. K., Ellard, S., & Hattersley, A. T. (2007) · Diabetes · doi:10.2337/db07-0043 · Cited by 350 · see citing works
De Franco, E., Flanagan, S. E., Houghton, J. A., Allen, H. L., Mackay, D. J., Temple, I. K., Ellard, S., & Hattersley, A. T. (2015) · The Lancet · doi:10.1016/s0140-6736(15)60098-8 · Cited by 349 · see citing works
Human genetics illuminates the paths to metabolic disease
O’Rahilly, S. (2009) · Nature · doi:10.1038/nature08532 · Cited by 330 · see citing works
Hattersley, A. T., Greeley, S. A. W., Polak, M., Rubio-Cabezas, O., Njølstad, P. R., Mlynarski, W., Castano, L., Carlsson, A., Raile, K., Chi, D. V., et al. (2018) · Pediatric Diabetes · doi:10.1111/pedi.12772 · Cited by 319 · see citing works
Self-citationKATP channels and islet hormone secretion: new insights and controversies
Ashcroft, F. M., & Rorsman, P. (2013) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2013.166 · Cited by 272 · see citing works
Rafiq, M., Flanagan, S. E., Patch, A., Shields, B. M., Ellard, S., Hattersley, A. T., & The Neonatal Diabetes International Collaborative Group (2008) · Diabetes Care · doi:10.2337/dc07-1785 · Cited by 266 · see citing works
The diagnosis and management of monogenic diabetes in children and adolescents
Hattersley, A., Bruining, J., Shield, J., Njolstad, P., & Donaghue, K. C. (2009) · Pediatric Diabetes · doi:10.1111/j.1399-5448.2009.00571.x · Cited by 255 · see citing works
Aguilar‐Bryan, L., & Bryan, J. (2008) · Endocrine Reviews · doi:10.1210/er.2007-0029 · Cited by 255 · see citing works
Self-citationFlanagan, S. E., Clauin, S., Bellanné‐Chantelot, C., de Lonlay, P., Harries, L. W., Gloyn, A. L., & Ellard, S. (2008) · Human Mutation · doi:10.1002/humu.20838 · Cited by 246 · see citing works
β-Cell Failure in Type 2 Diabetes: Postulated Mechanisms and Prospects for Prevention and Treatment
Halban, P. A., Polonsky, K. S., Bowden, D. W., Hawkins, M. A., Ling, C., Mather, K. J., Powers, A. C., Rhodes, C. J., Sussel, L., & Weir, G. C. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-1425 · Cited by 240 · see citing works
Colombo, C., Porzio, O., Liu, M. R., Massa, O., Vasta, M., Salardi, S., Beccaria, L., Monciotti, C. M., Toni, S., Pedersen, O. B., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci33777 · Cited by 234 · see citing works
Ellard, S., Flanagan, S. E., Girard, C. A., Patch, A.-M., Harries, L. W., Parrish, A., Edghill, E. L., Mackay, D. J. G., Proks, P., Shimomura, K., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519174 · Cited by 215 · see citing works
Greeley, S. A. W., Polak, M., Njølstad, P. R., Barbetti, F., Williams, R., Castano, L., Raile, K., Chi, D. V., Habeb, A., Hattersley, A. T., et al. (2022) · Pediatric Diabetes · doi:10.1111/pedi.13426 · Cited by 211 · see citing works
Self-citationGarin, I., Edghill, E. L., Akerman, I., Rubio-Cabezas, O., Rica, I., Locke, J. M., Maestro, M. A., Alshaikh, A., Bundak, R., del Castillo, G., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910533107 · Cited by 211 · see citing works
Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene
Bonnefond, A., Philippe, J., Durand, E., Dechaume, A., Huyvaert, M., Montagne, L., Marre, M., Balkau, B., Fajardy, I., Vambergue, A., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0037423 · Cited by 209 · see citing works
Self-citationGao, P., Yee, R. K., Gula, L. J., Krahn, A. D., Skanes, A. C., Leong‐Sit, P., Klein, G. J., Stirrat, J., Fine, N. M., Pallaveshi, L., et al. (2012) · Circulation Cardiovascular Imaging · doi:10.1161/circimaging.111.971549 · Cited by 209 · see citing works
Kim, J.-B. (2014) · Korean Journal of Pediatrics · doi:10.3345/kjp.2014.57.1.1 · Cited by 209 · see citing works
Chung, W. K., Erion, K., Florez, J. C., Hattersley, A. T., Hivert, M.-F., Lee, C. G., McCarthy, M. I., Nolan, J. J., Norris, J. M., Pearson, E. R., et al. (2020) · Diabetologia · doi:10.1007/s00125-020-05181-w · Cited by 203 · see citing works
Monogenic diabetes: a gateway to precision medicine in diabetes
Zhang, H., Colclough, K., Gloyn, A. L., & Pollin, T. I. (2021) · Journal of Clinical Investigation · doi:10.1172/jci142244 · Cited by 202 · see citing works
Precision medicine in the management of type 2 diabetes
Gloyn, A. L., & Drucker, D. J. (2018) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(18)30052-4 · Cited by 201 · see citing works
Neonatal diabetes mellitus: a disease linked to multiple mechanisms
Polak, M., & Cavé, H. (2007) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-2-12 · Cited by 200 · see citing works
Self-citationThe diagnosis and management of monogenic diabetes in children and adolescents
Rubio-Cabezas, O., Hattersley, A. T., Njølstad, P. R., Mlynarski, W., Ellard, S., White, N., Chi, D. V., & Craig, M. E. (2014) · Pediatric Diabetes · doi:10.1111/pedi.12192 · Cited by 196 · see citing works
Franco, E. D., Saint‐Martin, C., Brusgaard, K., Johnson, A. E. K., Aguilar‐Bryan, L., Bowman, P., Arnoux, J., Larsen, A. R., Sanyoura, M., Greeley, S. A. W., et al. (2020) · Human Mutation · doi:10.1002/humu.23995 · Cited by 181 · see citing works
Self-citationHeterozygous ABCC8 mutations are a cause of MODY
Bowman, P., Flanagan, S. E., Edghill, E. L., Damhuis, A., Shepherd, M. H., Paisey, R., Hattersley, A. T., & Ellard, S. (2011) · Diabetologia · doi:10.1007/s00125-011-2319-x · Cited by 180 · see citing works
KATPChannels and Cardiovascular Disease
Nichols, C. G., Singh, G. K., & Grange, D. K. (2013) · Circulation Research · doi:10.1161/circresaha.112.300514 · Cited by 178 · see citing works
Cantú Syndrome Is Caused by Mutations in ABCC9
van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., Reutter, H. M., Østergaard, J. R., Morava, É., Tsiakas, K., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.04.014 · Cited by 166 · see citing works
ABCC8 and ABCC9: ABC transporters that regulate K+ channels
Bryan, J., Muñoz, A., Zhang, X., Düfer, M., Drews, G., Krippeit‐Drews, P., & Aguilar‐Bryan, L. (2006) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-006-0116-z · Cited by 166 · see citing works
Self-citationBonnefond, A., Ranjit Unnikrishnan, I., Doria, A., Vaxillaire, M., Kulkarni, R., Mohan, V., Trischitta, V., & Froguel, P. (2023) · Nature Reviews Disease Primers · doi:10.1038/s41572-023-00421-w · Cited by 165 · see citing works
Self-citationMaturity onset diabetes of the young: identification and diagnosis
McDonald, T. J., & Ellard, S. (2013) · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · doi:10.1177/0004563213483458 · Cited by 162 · see citing works
SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator
Aittoniemi, J., Fotinou, C., Craig, T. J., de Wet, H., Proks, P., & Ashcroft, F. M. (2008) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2008.0142 · Cited by 159 · see citing works
Feng, Y., Mao, G., Ren, X., Xing, H., Tang, G., Li, Q., Li, X., Sun, L., Yang, J., Ma, W.-Q., et al. (2008) · Diabetes Care · doi:10.2337/dc07-2248 · Cited by 157 · see citing works
Role of DNA methylation in imprinting disorders: an updated review
Elhamamsy, A. R. (2017) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-017-0895-5 · Cited by 155 · see citing works
Rubio‐Cabezas, O., Patch, A., Minton, J. A. L., Flanagan, S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, A., Buchanan, C. R., Jefferson, I. G., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-1137 · Cited by 154 · see citing works
The emerging genetics of type 2 diabetes
Bonnefond, A., Froguel, P., & Vaxillaire, M. (2010) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2010.06.004 · Cited by 153 · see citing works
Self-citationFranco, E. D., Shaw-Smith, C. J., Flanagan, S. E., Shepherd, M. H., Hattersley, A. T., & Ellard, S. (2012) · Diabetes · doi:10.2337/db12-0885 · Cited by 148 · see citing works
ATP‐Sensitive Potassium Channels and Their Physiological and Pathophysiological Roles
Tinker, A., Aziz, Q. H., Li, Y., & Specterman, M. J. (2018) · Comprehensive physiology · doi:10.1002/cphy.c170048 · Cited by 145 · see citing works
Type 2 Diabetes Risk Alleles Are Associated With Reduced Size at Birth
Freathy, R. M., Bennett, A. J., Ring, S. M., Shields, B. M., Groves, C. J., Timpson, N. J., Weedon, M. N., Zeggini, E., Lindgren, C. M., Allen, H. L., et al. (2009) · Diabetes · doi:10.2337/db08-1739 · Cited by 144 · see citing works
Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene
Støy, J., Steiner, D. F., Park, S. Y., Ye, H., Philipson, L. H., & Bell, G. I. (2010) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-010-9151-3 · Cited by 138 · see citing works
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes
Yang, Y., & Chan, L. (2016) · Endocrine Reviews · doi:10.1210/er.2015-1116 · Cited by 138 · see citing works
Nutrigenomics research for personalized nutrition and medicine
Kaput, J. (2008) · Current Opinion in Biotechnology · doi:10.1016/j.copbio.2008.02.005 · Cited by 138 · see citing works
Learning From Molecular Genetics
McCarthy, M. I., & Hattersley, A. T. (2008) · Diabetes · doi:10.2337/db08-0343 · Cited by 132 · see citing works
Insights into pancreatic islet cell dysfunction from type 2 diabetes mellitus genetics
Krentz, N. A. J., & Gloyn, A. L. (2020) · Nature Reviews Endocrinology · doi:10.1038/s41574-020-0325-0 · Cited by 129 · see citing works
Polak, M., Dechaume, A., Cavé, H., Nimri, R., Crosnier, H., Sulmont, V., de Kerdanet, M., Scharfmann, R., Lebenthal, Y., Froguel, P., et al. (2008) · Diabetes · doi:10.2337/db07-1358 · Cited by 129 · see citing works
Self-citationDiagnosis and treatment of neonatal diabetes: an United States experience†
Støy, J., Greeley, S. A. W., Paz, V. P., Ye, H., Pastore, A. N., Skowron, K. B., Lipton, R. B., Cogen, F. R., Bell, G. I., Philipson, L. H., et al. (2008) · Pediatric Diabetes · doi:10.1111/j.1399-5448.2008.00433.x · Cited by 126 · see citing works
Bonnefond, A., Durand, E., Sand, O., Graeve, F. D., Gallina, S., Busiah, K., Lobbens, S., Simon, A., Bellanné‐Chantelot, C., Létourneau, L., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0013630 · Cited by 126 · see citing works
Self-citationPrevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry
Irgens, H. U., Molnes, J., Johansson, B. B., Ringdal, M., Skrivarhaug, T., Undlien, D. E., Søvik, O., Joner, G., Molven, A., & Njølstad, P. R. (2013) · Diabetologia · doi:10.1007/s00125-013-2916-y · Cited by 126 · see citing works
Burke, M. A., Mutharasan, R. K., & Ardehali, H. (2008) · Circulation Research · doi:10.1161/circresaha.107.165324 · Cited by 125 · see citing works
New insights into KATP channel gene mutations and neonatal diabetes mellitus
Pipatpolkai, T., Usher, S., Stansfeld, P. J., & Ashcroft, F. M. (2020) · Nature Reviews Endocrinology · doi:10.1038/s41574-020-0351-y · Cited by 122 · see citing works
Pancreatic Development and Disease
Cano, D. A., Hebrok, M., & Zenker, M. (2007) · Gastroenterology · doi:10.1053/j.gastro.2006.12.054 · Cited by 121 · see citing works
Riddle, M. C., Philipson, L. H., Rich, S. S., Carlsson, A., Franks, P. W., Greeley, S. A. W., Nolan, J. J., Pearson, E. R., Zeitler, P. S., & Hattersley, A. T. (2020) · Diabetes Care · doi:10.2337/dci20-0065 · Cited by 117 · see citing works
Hamming, K. S. C., Soliman, D., Matemisz, L. C., Niazi, O., Lang, Y. V., Gloyn, A. L., & Light, P. E. (2009) · Diabetes · doi:10.2337/db09-0143 · Cited by 117 · see citing works
Rubio‐Cabezas, O., & Ellard, S. (2013) · Hormone Research in Paediatrics · doi:10.1159/000354219 · Cited by 116 · see citing works
Precision Medicine: A New Paradigm in Therapeutics
Akhoon, N. (2021) · International Journal of Preventive Medicine · doi:10.4103/ijpvm.ijpvm_375_19 · Cited by 116 · see citing works
Busiah, K., Drunat, S., Vaivre‐Douret, L., Bonnefond, A., Simon, A., Flechtner, I., Gérard, B., Pouvreau, N., Elie, C., Nimri, R., et al. (2013) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(13)70059-7 · Cited by 116 · see citing works
Self-citationA novel mutation causing DEND syndrome
Shimomura, K., Hörster, F., de Wet, H., Flanagan, S. E., Ellard, S., Hattersley, A. T., Wolf, N. I., Ashcroft, F. M., & Ebinger, F. (2007) · Neurology · doi:10.1212/01.wnl.0000268488.51776.53 · Cited by 114 · see citing works
Exome Sequencing and Genetic Testing for MODY
Johansson, S., Irgens, H. U., Chudasama, K., Molnes, J., Aerts, J. A., Roque, F. S., Jonassen, I., Levy, S., Lima, K., Knappskog, P. M., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0038050 · Cited by 112 · see citing works
Human KATP channelopathies: diseases of metabolic homeostasis
Olson, T. M., & Terzic, A. (2009) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-009-0771-y · Cited by 112 · see citing works
Staník, J., Gašperíková, D., Paskova, M., Barák, Ľ., Javorkova, J., Jancova, E., Čiljaková, M., Hlava, P., Michálek, J., Flanagan, S. E., et al. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-2490 · Cited by 112 · see citing works
Insm1 cooperates with Neurod1 and Foxa2 to maintain mature pancreatic β‐cell function
Jia, S., Ivanov, A., Blasevic, D., Müller, T. H., Purfürst, B., Sun, W., Chen, W., Poy, M. N., Rajewsky, N., & Birchmeier, C. (2015) · The EMBO Journal · doi:10.15252/embj.201490819 · Cited by 107 · see citing works
Koster, J. C., Cadario, F., Peruzzi, C., Colombo, C., Nichols, C. G., & Barbetti, F. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-1826 · Cited by 107 · see citing works
ATP-sensitive K <sup>+</sup> channels and disease: from molecule to malady
Ashcroft, F. M. (2007) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00348.2007 · Cited by 107 · see citing works
Yamada, S., Kane, G. C., Behfar, A., Liu, X., Dyer, R. B., Faustino, R. S., Miki, T., Seino, S., & Terzic, A. (2006) · The Journal of Physiology · doi:10.1113/jphysiol.2006.119511 · Cited by 106 · see citing works
Neonatal Diabetes and the K ATP Channel: From Mutation to Therapy
Ashcroft, F. M., Puljung, M. C., & Vedovato, N. (2017) · Trends in Endocrinology & Metabolism · doi:10.1016/j.tem.2017.02.003 · Cited by 106 · see citing works
Klemen, M. S., Dolenšek, J., Rupnik, M. S., & Stožer, A. (2017) · Islets · doi:10.1080/19382014.2017.1342022 · Cited by 102 · see citing works
Kalra, S., Bahendeka, S., Sahay, R., Ghosh, S., Md, F., Orabi, A., Ramaiya, K., Al Shammari, S., Shrestha, D., Shaikh, K., et al. (2018) · Indian Journal of Endocrinology and Metabolism · doi:10.4103/ijem.ijem_556_17 · Cited by 101 · see citing works
Beltrand, J., Busiah, K., Vaivre‐Douret, L., Fauret‐Amsellem, A., Berdugo, M., Cavé, H., & Polak, M. (2020) · Frontiers in Pediatrics · doi:10.3389/fped.2020.540718 · Cited by 101 · see citing works
Self-citationGenetics and pathophysiology of neonatal diabetes mellitus
Naylor, R. N., Greeley, S. A. W., Bell, G. I., & Philipson, L. H. (2011) · Journal of Diabetes Investigation · doi:10.1111/j.2040-1124.2011.00106.x · Cited by 99 · see citing works
Beltrand, J., Elie, C., Busiah, K., Fournier, E., Boddaert, N., Bahi‐Buisson, N., Vera, M., Quoc, E. B., Ingster-Moati, I., Berdugo, M., et al. (2015) · Diabetes Care · doi:10.2337/dc15-0837 · Cited by 98 · see citing works
Self-citationPharmacogenetics of Anti-Diabetes Drugs
DiStefano, J. K., & Watanabe, R. M. (2010) · Pharmaceuticals · doi:10.3390/ph3082610 · Cited by 96 · see citing works
RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells
Chandra, V., Albagli, O., Hastoy, B., Piccand, J., Randriamampita, C., Vaillant, E., Cavé, H., Busiah, K., Froguel, P., Vaxillaire, M., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.11.010 · Cited by 94 · see citing works
Self-citationMaitra, A. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4377-0792-2.50029-8 · Cited by 94 · see citing works
Patch, A., Flanagan, S. E., Boustred, C. R., Hattersley, A. T., & Ellard, S. (2007) · Diabetes Obesity and Metabolism · doi:10.1111/j.1463-1326.2007.00772.x · Cited by 93 · see citing works
Alkorta‐Aranburu, G., Carmody, D., Cheng, Y., Nelakuditi, V., Ma, L., Dickens, J. T., Das, S., Greeley, S. A. W., & del Gaudio, D. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.09.007 · Cited by 93 · see citing works
The Cost-Effectiveness of Personalized Genetic Medicine
Greeley, S. A. W., John, P. M., Winn, A. N., Ornelas, J., Lipton, R. B., Philipson, L. H., Bell, G. I., & Huang, E. S. (2011) · Diabetes Care · doi:10.2337/dc10-1616 · Cited by 92 · see citing works
Diagnostik, Therapie und Verlaufskontrolle des Diabetes mellitus im Kindes- und Jugendalter
Neu, A., Bürger-Büsing, J., Danne, T., Dost, A., Holder, M., Holl, R. W., Holterhus, P., Kapellen, T., Karges, B., Kordonouri, O., et al. (2016) · Diabetologie und Stoffwechsel · doi:10.1055/s-0042-111213 · Cited by 91 · see citing works
Genomics of type 2 diabetes mellitus: implications for the clinician
Stolerman, E. S., & Florez, J. C. (2009) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2009.129 · Cited by 91 · see citing works
Proinsulin and the Genetics of Diabetes Mellitus
Weiss, M. A. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.r109.009936 · Cited by 91 · see citing works
Many faces of monogenic diabetes
Schwitzgebel, V. (2014) · Journal of Diabetes Investigation · doi:10.1111/jdi.12197 · Cited by 89 · see citing works
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11
Edghill, E. L., Flanagan, S. E., & Ellard, S. (2010) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-010-9149-x · Cited by 87 · see citing works
Bonnefond, A., Philippe, J., Durand, E., Muller, J., Saeed, S., Arslan, M., Martı́nez, R., Graeve, F. D., Dhennin, V., Rabearivelo, I., et al. (2013) · Diabetes Care · doi:10.2337/dc13-0698 · Cited by 86 · see citing works
Self-citationThe Human Islet: Mini-Organ With Mega-Impact
Walker, J. T., Saunders, D. C., Briššová, M., & Powers, A. C. (2021) · Endocrine Reviews · doi:10.1210/endrev/bnab010 · Cited by 86 · see citing works
- Authors
- Babenko, A. P., Polak, M., Cavé, H., Busiah, K., Czernichow, P., Scharfmann, R., Bryan, J., Aguilar-Bryan, L., Vaxillaire, M., & Froguel, P.
- Affiliations
- Baylor College of Medicine (US)
- Hôpital Necker-Enfants Malades (FR)
- Hôpital Robert-Debré (FR)
- Centre National de la Recherche Scientifique (FR)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2006-08-03
- Volume
- 355
- Issue
- 5
- Pages
- 456-466
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2155078339
- Cited by
- 655
- References
- 33
- Citations by year
- 2026: 11 · 2025: 16 · 2024: 15 · 2023: 27 · 2022: 20 · 2021: 32 · 2020: 28 · 2019: 33 · 2018: 32 · 2017: 29 · 2016: 37 · 2015: 33 · 2014: 42 · 2013: 42 · 2012: 26
- FWCI
- 51.85
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- HAL (submittedVersion, other-oa)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (DK44311, DK52771, R01DK044311, R01DK052771)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Keywords
- ABCC8, neonatal diabetes, SUR1, Kir6.2, ATP-sensitive potassium channels, activating mutations, missense mutations, open probability, type 2 diabetes
- MeSH terms
- Kcnj11 Channel, Birth Weight, Developmental Disabilities, Diabetes Mellitus, Female, Heterozygote, Humans, Hypoglycemic Agents, Infant, Newborn, Male, Pedigree, Receptors, Drug, Sulfonylurea Compounds, Tolbutamide, Potassium Channels, ATP-Binding Cassette Transporters, Mutation, Missense, Potassium Channels, Inwardly Rectifying, Diabetes Complications, Insulin-Secreting Cells, Sulfonylurea Receptors
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